|
DFNB31, IVS2DS, G-A, +1
|
|
|
MYO7A, IVS27AS, G-C, -1
|
|
|
NC_000001.10:g.216144119_216591855del447737
|
|
|
NC_000001.11:g.(215728385_215741374)_(215759844_215766680)dup
|
|
|
NC_000005.10:g.(90694702_90696936)_(90829187_90840577)del
|
|
|
NC_000005.10:g.(?_140676634)_(140678035_?)del
|
|
|
NC_000005.10:g.(?_140679002)_(140683219_?)dup
|
|
|
NC_000005.9:g.140059894_140070834del
|
|
|
NG_007083.1:g.371658_507674del
|
|
|
NM_000260.3(MYO7A):c.*546C>T
|
rs115812166 |
|
NM_000260.3(MYO7A):c.*560C>T
|
rs35776264 |
|
NM_000260.3(MYO7A):c.1969C>T
|
rs878853236 |
|
NM_000260.3(MYO7A):c.22dup (p.Asp8Glyfs)
|
rs1555051390 |
|
NM_000260.3(MYO7A):c.29T>C
|
rs878853237 |
|
NM_000260.4(MYO7A):c.*100C>T
|
|
|
NM_000260.4(MYO7A):c.*101G>A
|
rs886048683 |
|
NM_000260.4(MYO7A):c.*142A>G
|
rs369873505 |
|
NM_000260.4(MYO7A):c.*201T>C
|
|
|
NM_000260.4(MYO7A):c.*208C>G
|
rs886048684 |
|
NM_000260.4(MYO7A):c.*230A>G
|
rs112830819 |
|
NM_000260.4(MYO7A):c.*315C>G
|
|
|
NM_000260.4(MYO7A):c.*363A>C
|
rs115872143 |
|
NM_000260.4(MYO7A):c.*38G>A
|
|
|
NM_000260.4(MYO7A):c.*392A>G
|
|
|
NM_000260.4(MYO7A):c.*416C>T
|
|
|
NM_000260.4(MYO7A):c.*440G>A
|
|
|
NM_000260.4(MYO7A):c.*442T>C
|
rs115238711 |
|
NM_000260.4(MYO7A):c.*504C>T
|
rs34765389 |
|
NM_000260.4(MYO7A):c.*75C>T
|
|
|
NM_000260.4(MYO7A):c.-154G>A
|
rs545774605 |
|
NM_000260.4(MYO7A):c.-160G>A
|
rs576789908 |
|
NM_000260.4(MYO7A):c.-170C>T
|
rs886048667 |
|
NM_000260.4(MYO7A):c.-196C>T
|
rs886048666 |
|
NM_000260.4(MYO7A):c.-20G>A
|
rs886048668 |
|
NM_000260.4(MYO7A):c.-211A>G
|
rs41298129 |
|
NM_000260.4(MYO7A):c.-52C>G
|
|
|
NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys)
|
rs369997614 |
|
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)
|
rs45629132 |
|
NM_000260.4(MYO7A):c.1085_1086del (p.Asn362fs)
|
rs1591286221 |
|
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro)
|
rs397516281 |
|
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys)
|
rs868979094 |
|
NM_000260.4(MYO7A):c.1123C>G (p.Leu375Val)
|
rs782728522 |
|
NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val)
|
rs368716988 |
|
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys)
|
rs199818783 |
|
NM_000260.4(MYO7A):c.1133G>A (p.Arg378His)
|
rs397516282 |
|
NM_000260.4(MYO7A):c.1134_1146dup (p.Ser383fs)
|
rs1591286671 |
|
NM_000260.4(MYO7A):c.1135G>A (p.Gly379Arg)
|
rs878853377 |
|
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met)
|
rs782681743 |
|
NM_000260.4(MYO7A):c.1168C>T (p.Gln390Ter)
|
rs1555067598 |
|
NM_000260.4(MYO7A):c.1172C>T (p.Ala391Val)
|
rs1555067608 |
|
NM_000260.4(MYO7A):c.117_132+6del
|
rs1555051567 |
|
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys)
|
rs782279338 |
|
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr)
|
rs1297886521 |
|
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp)
|
rs1555067667 |
|
NM_000260.4(MYO7A):c.1200+1G>A
|
rs397516283 |
|
NM_000260.4(MYO7A):c.1201-12A>G
|
|
|
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys)
|
rs797044511 |
|
NM_000260.4(MYO7A):c.1232T>C (p.Val411Ala)
|
rs369916141 |
|
NM_000260.4(MYO7A):c.1242C>T (p.Ile414=)
|
rs886048673 |
|
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter)
|
rs782539587 |
|
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys)
|
rs201839693 |
|
NM_000260.4(MYO7A):c.133-14C>T
|
rs116228809 |
|
NM_000260.4(MYO7A):c.133-2A>C
|
rs782064437 |
|
NM_000260.4(MYO7A):c.133-2A>G
|
rs782064437 |
|
NM_000260.4(MYO7A):c.133-7C>T
|
rs111033221 |
|
NM_000260.4(MYO7A):c.133-7_146dup
|
rs1555054558 |
|
NM_000260.4(MYO7A):c.1343+1G>A
|
rs914189193 |
|
NM_000260.4(MYO7A):c.1343+8G>A
|
rs2276278 |
|
NM_000260.4(MYO7A):c.1343+8G>T
|
rs2276278 |
|
NM_000260.4(MYO7A):c.1344-2A>G
|
rs111033415 |
|
NM_000260.4(MYO7A):c.1344-7C>G
|
rs886048674 |
|
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln)
|
rs1269622956 |
|
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val)
|
rs1555069238 |
|
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr)
|
rs202080237 |
|
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=)
|
rs559209306 |
|
NM_000260.4(MYO7A):c.1401_1403dup (p.His468_Val469insGln)
|
rs111033219 |
|
NM_000260.4(MYO7A):c.1403A>G (p.His468Arg)
|
rs200304238 |
|
NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr)
|
rs397516286 |
|
NM_000260.4(MYO7A):c.1506G>A (p.Lys502=)
|
rs181126043 |
|
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln)
|
rs782023308 |
|
NM_000260.4(MYO7A):c.1554+7C>T
|
rs150114658 |
|
NM_000260.4(MYO7A):c.1554+8G>A
|
rs111033227 |
|
NM_000260.4(MYO7A):c.1554G>A (p.Lys518=)
|
rs886048675 |
|
NM_000260.4(MYO7A):c.1555-8C>G
|
rs1057517774 |
|
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp)
|
rs111033206 |
|
NM_000260.4(MYO7A):c.156C>G (p.Asn52Lys)
|
rs886048669 |
|
NM_000260.4(MYO7A):c.1575_1592del (p.Ser530_Asn535del)
|
rs1555070062 |
|
NM_000260.4(MYO7A):c.1588_1605dup (p.Ser530_Asn535dup)
|
rs1555070084 |
|
NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter)
|
rs781951909 |
|
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=)
|
rs111033228 |
|
NM_000260.4(MYO7A):c.160A>G (p.Thr54Ala)
|
rs369142107 |
|
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His)
|
rs782607566 |
|
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs)
|
rs782077721 |
|
NM_000260.4(MYO7A):c.1690+4C>T
|
|
|
NM_000260.4(MYO7A):c.1690+9G>T
|
rs371146074 |
|
NM_000260.4(MYO7A):c.1691-2A>G
|
rs1555072299 |
|
NM_000260.4(MYO7A):c.1719G>T (p.Leu573=)
|
|
|
NM_000260.4(MYO7A):c.1721A>C (p.His574Pro)
|
rs397516287 |
|
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn)
|
rs187165412 |
|
NM_000260.4(MYO7A):c.1797+13C>T
|
|
|
NM_000260.4(MYO7A):c.1797G>A (p.Met599Ile)
|
rs121965082 |
|
NM_000260.4(MYO7A):c.1798-1G>A
|
rs1555076948 |
|
NM_000260.4(MYO7A):c.1798-3C>G
|
rs1555076939 |
|
NM_000260.4(MYO7A):c.18+2T>A
|
rs564622720 |
|
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr)
|
rs782481491 |
|
NM_000260.4(MYO7A):c.1817G>A (p.Arg606His)
|
rs782311929 |
|
NM_000260.4(MYO7A):c.182C>G (p.Pro61Arg)
|
rs397516289 |
|
NM_000260.4(MYO7A):c.1845del (p.Lys615fs)
|
rs886037762 |
|
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp)
|
rs369195493 |
|
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)
|
rs782063761 |
|
NM_000260.4(MYO7A):c.1854G>A (p.Leu618=)
|
rs35429535 |
|
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His)
|
rs111033416 |
|
NM_000260.4(MYO7A):c.186G>A (p.Thr62=)
|
rs368267301 |
|
NM_000260.4(MYO7A):c.1871C>T (p.Thr624Met)
|
|
|
NM_000260.4(MYO7A):c.1884C>A (p.Cys628Ter)
|
rs121965083 |
|
NM_000260.4(MYO7A):c.19-1G>A
|
rs111033426 |
|
NM_000260.4(MYO7A):c.19-2A>G
|
rs1555051384 |
|
NM_000260.4(MYO7A):c.19-9C>T
|
rs368452072 |
|
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter)
|
rs111033180 |
|
NM_000260.4(MYO7A):c.1935+1G>C
|
rs1343207038 |
|
NM_000260.4(MYO7A):c.1942G>A (p.Asp648Asn)
|
|
|
NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp)
|
rs782503314 |
|
NM_000260.4(MYO7A):c.1952T>C (p.Leu651Pro)
|
rs876657416 |
|
NM_000260.4(MYO7A):c.1956C>T (p.Cys652=)
|
rs367693437 |
|
NM_000260.4(MYO7A):c.196_210del (p.Gly66_Met70del)
|
rs1555054736 |
|
NM_000260.4(MYO7A):c.1970G>A (p.Arg657Gln)
|
|
|
NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter)
|
rs878853378 |
|
NM_000260.4(MYO7A):c.1977del (p.Gly660fs)
|
rs1555078942 |
|
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter)
|
rs121965085 |
|
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln)
|
rs782396605 |
|
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys)
|
rs397516292 |
|
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)
|
rs111033201 |
|
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln)
|
rs201178011 |
|
NM_000260.4(MYO7A):c.2023C>T (p.Arg675Cys)
|
rs782459520 |
|
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile)
|
rs35641839 |
|
NM_000260.4(MYO7A):c.2057G>A (p.Arg686His)
|
rs781991817 |
|
NM_000260.4(MYO7A):c.2106C>T (p.Arg702=)
|
rs369787754 |
|
NM_000260.4(MYO7A):c.2107G>A (p.Gly703Arg)
|
rs572300575 |
|
NM_000260.4(MYO7A):c.2120G>A (p.Arg707His)
|
|
|
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)
|
rs397516293 |
|
NM_000260.4(MYO7A):c.2146C>G (p.His716Asp)
|
rs886048676 |
|
NM_000260.4(MYO7A):c.215G>T (p.Arg72Leu)
|
rs886048670 |
|
NM_000260.4(MYO7A):c.2181T>C (p.Phe727=)
|
rs373656667 |
|
NM_000260.4(MYO7A):c.2187+1G>A
|
rs111033290 |
|
NM_000260.4(MYO7A):c.2187+1G>T
|
rs111033290 |
|
NM_000260.4(MYO7A):c.218T>C (p.Leu73Pro)
|
rs372188355 |
|
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp)
|
rs201234369 |
|
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn)
|
rs36090425 |
|
NM_000260.4(MYO7A):c.2239_2240AG[1] (p.Arg747fs)
|
rs1555080760 |
|
NM_000260.4(MYO7A):c.223del (p.Asp75fs)
|
rs876657415 |
|
NM_000260.4(MYO7A):c.224dup (p.Asp75fs)
|
rs1224819887 |
|
NM_000260.4(MYO7A):c.225C>A (p.Asp75Glu)
|
rs782757893 |
|
NM_000260.4(MYO7A):c.2266C>T (p.Arg756Trp)
|
rs782174733 |
|
NM_000260.4(MYO7A):c.2282+5G>A
|
rs540145750 |
|
NM_000260.4(MYO7A):c.2283-1G>T
|
rs397516295 |
|
NM_000260.4(MYO7A):c.2283-2_2293del
|
rs1555082041 |
|
NM_000260.4(MYO7A):c.2283G>A (p.Arg761=)
|
rs111033229 |
|
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met)
|
rs201203036 |
|
NM_000260.4(MYO7A):c.2307del (p.Asn769fs)
|
rs1060499800 |
|
NM_000260.4(MYO7A):c.2311G>T (p.Ala771Ser)
|
rs782384464 |
|
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter)
|
rs201892914 |
|
NM_000260.4(MYO7A):c.2355del (p.Asn786fs)
|
rs1591369118 |
|
NM_000260.4(MYO7A):c.2361C>A (p.Tyr787Ter)
|
rs1555082145 |
|
NM_000260.4(MYO7A):c.2372G>A (p.Arg791His)
|
rs782693893 |
|
NM_000260.4(MYO7A):c.2386C>G (p.Arg796Gly)
|
rs111033339 |
|
NM_000260.4(MYO7A):c.2387G>A (p.Arg796Gln)
|
rs111033224 |
|
NM_000260.4(MYO7A):c.239G>A (p.Gly80Asp)
|
rs376796087 |
|
NM_000260.4(MYO7A):c.2410C>T (p.Arg804Trp)
|
|
|
NM_000260.4(MYO7A):c.2411G>A (p.Arg804Gln)
|
rs561347333 |
|
NM_000260.4(MYO7A):c.2421C>T (p.His807=)
|
rs782218928 |
|
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His)
|
rs148343670 |
|
NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter)
|
rs1279918132 |
|
NM_000260.4(MYO7A):c.2475C>T (p.Arg825=)
|
rs782711428 |
|
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)
|
rs368341987 |
|
NM_000260.4(MYO7A):c.2488C>T (p.Arg830Cys)
|
rs797044493 |
|
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His)
|
rs371029653 |
|
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys)
|
rs375510570 |
|
NM_000260.4(MYO7A):c.2507G>A (p.Arg836His)
|
rs782179888 |
|
NM_000260.4(MYO7A):c.2522T>C (p.Leu841Pro)
|
rs397516296 |
|
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met)
|
rs140559111 |
|
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)
|
rs111033437 |
|
NM_000260.4(MYO7A):c.2598C>T (p.Arg866=)
|
|
|
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)
|
rs200454015 |
|
NM_000260.4(MYO7A):c.2618G>A (p.Arg873Gln)
|
rs1052032 |
|
NM_000260.4(MYO7A):c.2679C>T (p.Ala893=)
|
rs782279442 |
|
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=)
|
rs782531164 |
|
NM_000260.4(MYO7A):c.2724C>G (p.Asp908Glu)
|
rs199979876 |
|
NM_000260.4(MYO7A):c.2724C>T (p.Asp908=)
|
rs199979876 |
|
NM_000260.4(MYO7A):c.2754C>T (p.Ala918=)
|
rs78072361 |
|
NM_000260.4(MYO7A):c.2755G>A (p.Ala919Thr)
|
|
|
NM_000260.4(MYO7A):c.2759G>A (p.Arg920Gln)
|
rs565162134 |
|
NM_000260.4(MYO7A):c.2787G>A (p.Met929Ile)
|
|
|
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His)
|
rs201489714 |
|
NM_000260.4(MYO7A):c.2837T>G (p.Met946Arg)
|
rs1296612982 |
|
NM_000260.4(MYO7A):c.285+1G>C
|
rs782661097 |
|
NM_000260.4(MYO7A):c.285+2T>G
|
rs782292032 |
|
NM_000260.4(MYO7A):c.2850G>A (p.Leu950=)
|
rs397516297 |
|
NM_000260.4(MYO7A):c.286-5C>T
|
rs111033471 |
|
NM_000260.4(MYO7A):c.2878G>T (p.Glu960Ter)
|
rs782131913 |
|
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp)
|
rs199575418 |
|
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His)
|
rs200641606 |
|
NM_000260.4(MYO7A):c.288G>A (p.Thr96=)
|
rs56023295 |
|
NM_000260.4(MYO7A):c.288G>T (p.Thr96=)
|
rs56023295 |
|
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=)
|
rs111033233 |
|
NM_000260.4(MYO7A):c.2905-1G>A
|
rs1171417339 |
|
NM_000260.4(MYO7A):c.2960C>T (p.Pro987Leu)
|
rs397516298 |
|
NM_000260.4(MYO7A):c.3014C>T (p.Ala1005Val)
|
rs113326082 |
|
NM_000260.4(MYO7A):c.3028_3029insTACACCCGGTTGTCC (p.Gln1010_Gly1011insLeuHisProValVal)
|
rs782367511 |
|
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=)
|
rs111033507 |
|
NM_000260.4(MYO7A):c.3049_3051del (p.Tyr1017del)
|
rs1180304045 |
|
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg)
|
rs60103800 |
|
NM_000260.4(MYO7A):c.3090C>A (p.Asp1030Glu)
|
|
|
NM_000260.4(MYO7A):c.3109-15C>T
|
|
|
NM_000260.4(MYO7A):c.3109-27_3109-7dup
|
rs1555085333 |
|
NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr)
|
rs377326213 |
|
NM_000260.4(MYO7A):c.313del (p.Ala104_Val105insTer)
|
rs1555061466 |
|
NM_000260.4(MYO7A):c.318C>G (p.Asn106Lys)
|
rs1555061483 |
|
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=)
|
rs35963362 |
|
NM_000260.4(MYO7A):c.324C>A (p.Tyr108Ter)
|
rs116892396 |
|
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=)
|
rs116892396 |
|
NM_000260.4(MYO7A):c.3260T>C (p.Leu1087Pro)
|
rs375050157 |
|
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter)
|
rs376535635 |
|
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys)
|
rs199810429 |
|
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=)
|
rs367668576 |
|
NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter)
|
rs782468194 |
|
NM_000260.4(MYO7A):c.3310A>T (p.Lys1104Ter)
|
rs1555085978 |
|
NM_000260.4(MYO7A):c.3375+12C>T
|
|
|
NM_000260.4(MYO7A):c.3375+14C>A
|
rs782500012 |
|
NM_000260.4(MYO7A):c.3375+3G>A
|
rs397516299 |
|
NM_000260.4(MYO7A):c.3397G>A (p.Gly1133Arg)
|
rs782313913 |
|
NM_000260.4(MYO7A):c.3415G>A (p.Gly1139Ser)
|
rs200840044 |
|
NM_000260.4(MYO7A):c.3437G>A (p.Arg1146Gln)
|
rs782140421 |
|
NM_000260.4(MYO7A):c.3451C>G (p.Leu1151Val)
|
rs782465732 |
|
NM_000260.4(MYO7A):c.3472A>G (p.Ile1158Val)
|
rs797044517 |
|
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=)
|
rs201834743 |
|
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln)
|
rs782350886 |
|
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp)
|
rs554073390 |
|
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln)
|
rs797044516 |
|
NM_000260.4(MYO7A):c.3504-1G>C
|
rs1555090171 |
|
NM_000260.4(MYO7A):c.3504-2A>G
|
rs1555090168 |
|
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys)
|
rs111033214 |
|
NM_000260.4(MYO7A):c.351G>T (p.Glu117Asp)
|
rs886048671 |
|
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn)
|
rs373147966 |
|
NM_000260.4(MYO7A):c.3536T>A (p.Leu1179Gln)
|
rs199918940 |
|
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys)
|
rs1555090294 |
|
NM_000260.4(MYO7A):c.3560G>T (p.Ser1187Ile)
|
rs1555090314 |
|
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter)
|
rs1253943370 |
|
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser)
|
rs397516302 |
|
NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter)
|
rs782694195 |
|
NM_000260.4(MYO7A):c.3594C>T (p.Cys1198=)
|
|
|
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser)
|
rs117966637 |
|
NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr)
|
rs1555090442 |
|
NM_000260.4(MYO7A):c.3631-1G>C
|
rs1555090885 |
|
NM_000260.4(MYO7A):c.3638G>A (p.Arg1213Gln)
|
|
|
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu)
|
rs727504710 |
|
NM_000260.4(MYO7A):c.3662C>G (p.Pro1221Arg)
|
rs780594308 |
|
NM_000260.4(MYO7A):c.3669C>T (p.Tyr1223=)
|
rs727504631 |
|
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His)
|
rs368705036 |
|
NM_000260.4(MYO7A):c.3701C>G (p.Thr1234Ser)
|
rs775908821 |
|
NM_000260.4(MYO7A):c.3702C>G (p.Thr1234=)
|
rs77299211 |
|
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)
|
rs111033178 |
|
NM_000260.4(MYO7A):c.3723A>T (p.Thr1241=)
|
rs767426033 |
|
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter)
|
rs1057517857 |
|
NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu)
|
rs750358148 |
|
NM_000260.4(MYO7A):c.3750+5G>A
|
rs111033391 |
|
NM_000260.4(MYO7A):c.3750+9G>A
|
rs111033252 |
|
NM_000260.4(MYO7A):c.3751-14T>C
|
|
|
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)
|
rs111033347 |
|
NM_000260.4(MYO7A):c.3783C>T (p.Pro1261=)
|
rs754599732 |
|
NM_000260.4(MYO7A):c.3797A>G (p.Asp1266Gly)
|
rs781670345 |
|
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr)
|
rs41298131 |
|
NM_000260.4(MYO7A):c.3815_3822del (p.Leu1272fs)
|
rs1555091636 |
|
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu)
|
rs369458838 |
|
NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=)
|
rs78871677 |
|
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr)
|
rs727503328 |
|
NM_000260.4(MYO7A):c.3858G>A (p.Ala1286=)
|
rs372623270 |
|
NM_000260.4(MYO7A):c.3862G>T (p.Ala1288Ser)
|
|
|
NM_000260.4(MYO7A):c.3872_3873TC[3] (p.Leu1293fs)
|
rs760251968 |
|
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg)
|
rs727503329 |
|
NM_000260.4(MYO7A):c.3924+12C>T
|
rs2276285 |
|
NM_000260.4(MYO7A):c.3924+1G>C
|
rs1226046110 |
|
NM_000260.4(MYO7A):c.3924G>A (p.Lys1308=)
|
rs1349274983 |
|
NM_000260.4(MYO7A):c.3925-8G>A
|
rs367645097 |
|
NM_000260.4(MYO7A):c.392C>T (p.Pro131Leu)
|
rs1555061692 |
|
NM_000260.4(MYO7A):c.3943G>A (p.Gly1315Ser)
|
rs769771981 |
|
NM_000260.4(MYO7A):c.394C>T (p.Pro132Ser)
|
|
|
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=)
|
rs111033376 |
|
NM_000260.4(MYO7A):c.397C>A (p.His133Asn)
|
rs111033403 |
|
NM_000260.4(MYO7A):c.397C>G (p.His133Asp)
|
rs111033403 |
|
NM_000260.4(MYO7A):c.397dup (p.His133fs)
|
rs111033187 |
|
NM_000260.4(MYO7A):c.3998_4012del (p.Gln1333_Glu1337del)
|
rs1555092931 |
|
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile)
|
rs782787126 |
|
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter)
|
rs750647872 |
|
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr)
|
rs376291076 |
|
NM_000260.4(MYO7A):c.4018delinsCC (p.Ala1340fs)
|
rs1555092993 |
|
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)
|
rs111033181 |
|
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=)
|
rs73495790 |
|
NM_000260.4(MYO7A):c.4024del (p.Trp1342fs)
|
rs1555093028 |
|
NM_000260.4(MYO7A):c.4029G>C (p.Arg1343Ser)
|
rs763469001 |
|
NM_000260.4(MYO7A):c.4033_4035TTC[1] (p.Phe1346del)
|
rs1437625274 |
|
NM_000260.4(MYO7A):c.4039C>A (p.Arg1347Ser)
|
rs111534474 |
|
NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys)
|
rs111534474 |
|
NM_000260.4(MYO7A):c.4051T>C (p.Phe1351Leu)
|
|
|
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=)
|
rs78996818 |
|
NM_000260.4(MYO7A):c.4108_4111del (p.Gln1370fs)
|
rs1480697910 |
|
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly)
|
rs869312181 |
|
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter)
|
rs766641715 |
|
NM_000260.4(MYO7A):c.4118G>A (p.Arg1373Gln)
|
rs886048677 |
|
NM_000260.4(MYO7A):c.4128G>C (p.Lys1376Asn)
|
|
|
NM_000260.4(MYO7A):c.4153-10C>G
|
rs397516306 |
|
NM_000260.4(MYO7A):c.4153-11C>T
|
rs727503330 |
|
NM_000260.4(MYO7A):c.4153-7C>A
|
rs369489756 |
|
NM_000260.4(MYO7A):c.4153-8C>G
|
rs143216377 |
|
NM_000260.4(MYO7A):c.4153-8C>T
|
rs143216377 |
|
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs)
|
rs1555095933 |
|
NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His)
|
rs373080197 |
|
NM_000260.4(MYO7A):c.4254del (p.Asp1419fs)
|
rs1555096070 |
|
NM_000260.4(MYO7A):c.4280C>T (p.Thr1427Met)
|
rs547006116 |
|
NM_000260.4(MYO7A):c.4297del (p.Gln1433fs)
|
rs1555096223 |
|
NM_000260.4(MYO7A):c.4338_4340GAG[1] (p.Arg1448del)
|
rs1432069074 |
|
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile)
|
rs397516309 |
|
NM_000260.4(MYO7A):c.4432A>C (p.Lys1478Gln)
|
|
|
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe)
|
rs200416912 |
|
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=)
|
rs56174006 |
|
NM_000260.4(MYO7A):c.4476C>T (p.Ala1492=)
|
|
|
NM_000260.4(MYO7A):c.448C>A (p.Arg150=)
|
rs121965079 |
|
NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter)
|
rs121965079 |
|
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln)
|
rs202245413 |
|
NM_000260.4(MYO7A):c.4500_4501TG[1] (p.Val1501fs)
|
rs1555099541 |
|
NM_000260.4(MYO7A):c.4568+12C>G
|
rs72933642 |
|
NM_000260.4(MYO7A):c.4568+13G>A
|
rs532356676 |
|
NM_000260.4(MYO7A):c.4569-1G>A
|
rs775792432 |
|
NM_000260.4(MYO7A):c.4576del (p.Arg1526fs)
|
rs1555100200 |
|
NM_000260.4(MYO7A):c.4577G>A (p.Arg1526His)
|
rs397516311 |
|
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu)
|
rs111033183 |
|
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=)
|
rs41298745 |
|
NM_000260.4(MYO7A):c.4630G>A (p.Gly1544Ser)
|
rs886048678 |
|
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer)
|
rs1555100273 |
|
NM_000260.4(MYO7A):c.4647C>A (p.Thr1549=)
|
rs757971917 |
|
NM_000260.4(MYO7A):c.4659_4660del (p.Cys1554fs)
|
rs1555100315 |
|
NM_000260.4(MYO7A):c.4689G>A (p.Ala1563=)
|
|
|
NM_000260.4(MYO7A):c.468C>T (p.Ile156=)
|
rs12420129 |
|
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met)
|
rs41298747 |
|
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=)
|
rs200207753 |
|
NM_000260.4(MYO7A):c.470+1G>A
|
rs797044510 |
|
NM_000260.4(MYO7A):c.471-1G>A
|
rs548172627 |
|
NM_000260.4(MYO7A):c.4728G>A (p.Lys1576=)
|
rs758921557 |
|
NM_000260.4(MYO7A):c.4739A>G (p.Tyr1580Cys)
|
rs370232066 |
|
NM_000260.4(MYO7A):c.4755C>T (p.Ser1585=)
|
rs7927472 |
|
NM_000260.4(MYO7A):c.4762G>A (p.Glu1588Lys)
|
|
|
NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter)
|
rs1052030 |
|
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser)
|
rs1052030 |
|
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln)
|
rs139889944 |
|
NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter)
|
rs397516315 |
|
NM_000260.4(MYO7A):c.4828dup (p.Ala1610fs)
|
rs1555100603 |
|
NM_000260.4(MYO7A):c.4837_4839dup (p.Asp1613dup)
|
rs1555100610 |
|
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs)
|
rs1199012623 |
|
NM_000260.4(MYO7A):c.4842C>A (p.Asn1614Lys)
|
rs749146420 |
|
NM_000260.4(MYO7A):c.4844C>T (p.Pro1615Leu)
|
rs201321140 |
|
NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=)
|
rs61900036 |
|
NM_000260.4(MYO7A):c.4845del (p.Asn1616fs)
|
rs1555100625 |
|
NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr)
|
rs111033485 |
|
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=)
|
rs372535399 |
|
NM_000260.4(MYO7A):c.486C>T (p.Ala162=)
|
rs367687624 |
|
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg)
|
rs1472566324 |
|
NM_000260.4(MYO7A):c.4894del (p.Leu1632fs)
|
rs1188637368 |
|
NM_000260.4(MYO7A):c.4919del (p.Gly1640fs)
|
rs1555101858 |
|
NM_000260.4(MYO7A):c.4921G>A (p.Glu1641Lys)
|
rs767975012 |
|
NM_000260.4(MYO7A):c.4950C>T (p.Asn1650=)
|
rs80033599 |
|
NM_000260.4(MYO7A):c.495G>A (p.Thr165=)
|
|
|
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=)
|
rs111033331 |
|
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=)
|
rs181573957 |
|
NM_000260.4(MYO7A):c.4996A>T (p.Ser1666Cys)
|
rs2276288 |
|
NM_000260.4(MYO7A):c.4996_4997del (p.Ser1666fs)
|
rs1591467894 |
|
NM_000260.4(MYO7A):c.4997_4998GT[2] (p.Tyr1668fs)
|
rs1591467918 |
|
NM_000260.4(MYO7A):c.5013del (p.Thr1672fs)
|
rs1555102041 |
|
NM_000260.4(MYO7A):c.5018T>A (p.Val1673Asp)
|
|
|
NM_000260.4(MYO7A):c.5037G>A (p.Glu1679=)
|
rs886048679 |
|
NM_000260.4(MYO7A):c.5043+1G>T
|
rs1555102147 |
|
NM_000260.4(MYO7A):c.5065G>A (p.Asp1689Asn)
|
rs544639673 |
|
NM_000260.4(MYO7A):c.5069_5070insC (p.Gln1690fs)
|
rs1591470904 |
|
NM_000260.4(MYO7A):c.5088G>T (p.Arg1696=)
|
rs886048680 |
|
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu)
|
rs530520654 |
|
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter)
|
rs111033182 |
|
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val)
|
rs199561332 |
|
NM_000260.4(MYO7A):c.510G>A (p.Leu170=)
|
rs34477144 |
|
NM_000260.4(MYO7A):c.514C>T (p.Leu172=)
|
rs368246776 |
|
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys)
|
rs77625410 |
|
NM_000260.4(MYO7A):c.5168+2T>C
|
rs1192104600 |
|
NM_000260.4(MYO7A):c.5169-6C>T
|
rs768594224 |
|
NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=)
|
rs727505004 |
|
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu)
|
rs1478464275 |
|
NM_000260.4(MYO7A):c.5186C>T (p.Thr1729Met)
|
|
|
NM_000260.4(MYO7A):c.5214C>A (p.Ala1738=)
|
rs886048681 |
|
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=)
|
rs111033477 |
|
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp)
|
rs111033287 |
|
NM_000260.4(MYO7A):c.5229del (p.Leu1744fs)
|
rs1555103458 |
|
NM_000260.4(MYO7A):c.5245C>T (p.Arg1749Trp)
|
|
|
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln)
|
rs781537330 |
|
NM_000260.4(MYO7A):c.5259del (p.Lys1753fs)
|
rs1555103532 |
|
NM_000260.4(MYO7A):c.5265G>A (p.Ala1755=)
|
rs773557376 |
|
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter)
|
rs1555051455 |
|
NM_000260.4(MYO7A):c.5326+13C>T
|
rs114157944 |
|
NM_000260.4(MYO7A):c.5327-10C>G
|
|
|
NM_000260.4(MYO7A):c.5373C>T (p.Ser1791=)
|
rs376301325 |
|
NM_000260.4(MYO7A):c.5380G>A (p.Glu1794Lys)
|
rs762836180 |
|
NM_000260.4(MYO7A):c.5397C>A (p.Ile1799=)
|
|
|
NM_000260.4(MYO7A):c.5418C>T (p.Ala1806=)
|
rs368749248 |
|
NM_000260.4(MYO7A):c.5480+10G>A
|
rs768513428 |
|
NM_000260.4(MYO7A):c.5481-14G>A
|
rs113075052 |
|
NM_000260.4(MYO7A):c.5481-1G>C
|
rs1555105118 |
|
NM_000260.4(MYO7A):c.5488dup (p.Glu1830fs)
|
rs1555105135 |
|
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp)
|
rs748080151 |
|
NM_000260.4(MYO7A):c.549G>A (p.Ser183=)
|
rs188198404 |
|
NM_000260.4(MYO7A):c.5507T>C (p.Leu1836Pro)
|
rs1164918878 |
|
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro)
|
rs1385324903 |
|
NM_000260.4(MYO7A):c.5543del (p.Asn1848fs)
|
rs1555105202 |
|
NM_000260.4(MYO7A):c.5559C>T (p.His1853=)
|
rs373612656 |
|
NM_000260.4(MYO7A):c.5560G>A (p.Val1854Met)
|
rs754761542 |
|
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro)
|
rs368657015 |
|
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter)
|
rs878864531 |
|
NM_000260.4(MYO7A):c.5589C>T (p.His1863=)
|
|
|
NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=)
|
rs111033504 |
|
NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=)
|
rs111033504 |
|
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp)
|
rs397516321 |
|
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)
|
rs397516322 |
|
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=)
|
rs45450893 |
|
NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu)
|
rs572959359 |
|
NM_000260.4(MYO7A):c.5632del (p.Ala1877_Leu1878insTer)
|
rs1299898646 |
|
NM_000260.4(MYO7A):c.5637-173C>T
|
rs207472020 |
|
NM_000260.4(MYO7A):c.5640C>T (p.Asn1880=)
|
rs140664109 |
|
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln)
|
rs111033215 |
|
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu)
|
rs199606180 |
|
NM_000260.4(MYO7A):c.5661G>A (p.Pro1887=)
|
rs375627342 |
|
NM_000260.4(MYO7A):c.5665C>T (p.Leu1889=)
|
rs778051833 |
|
NM_000260.4(MYO7A):c.5667G>C (p.Leu1889=)
|
rs747516555 |
|
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=)
|
rs570316231 |
|
NM_000260.4(MYO7A):c.5715A>G (p.Lys1905=)
|
rs2276293 |
|
NM_000260.4(MYO7A):c.571G>C (p.Glu191Gln)
|
rs886048672 |
|
NM_000260.4(MYO7A):c.5743-12T>C
|
rs2276291 |
|
NM_000260.4(MYO7A):c.5753T>A (p.Val1918Glu)
|
rs1555106562 |
|
NM_000260.4(MYO7A):c.5772C>A (p.Ala1924=)
|
rs749438001 |
|
NM_000260.4(MYO7A):c.578C>T (p.Thr193Ile)
|
rs1188616455 |
|
NM_000260.4(MYO7A):c.5797del (p.Thr1933fs)
|
rs1555106609 |
|
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro)
|
rs397516323 |
|
NM_000260.4(MYO7A):c.5820A>G (p.Ser1940=)
|
rs886048682 |
|
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg)
|
rs111033192 |
|
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter)
|
rs111033192 |
|
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=)
|
rs111033476 |
|
NM_000260.4(MYO7A):c.5851G>C (p.Asp1951His)
|
rs767931313 |
|
NM_000260.4(MYO7A):c.5856G>A (p.Lys1952=)
|
rs1453053718 |
|
NM_000260.4(MYO7A):c.5857-2A>G
|
rs1555107286 |
|
NM_000260.4(MYO7A):c.5857-3C>A
|
rs727505114 |
|
NM_000260.4(MYO7A):c.5857-7A>T
|
rs1320703 |
|
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile)
|
rs948962 |
|
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile)
|
rs142293185 |
|
NM_000260.4(MYO7A):c.5886_5889del (p.Phe1962fs)
|
rs1397834886 |
|
NM_000260.4(MYO7A):c.5896G>A (p.Val1966Ile)
|
rs371313080 |
|
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter)
|
rs376764423 |
|
NM_000260.4(MYO7A):c.5904C>T (p.His1968=)
|
rs41298753 |
|
NM_000260.4(MYO7A):c.593-4G>A
|
rs876657534 |
|
NM_000260.4(MYO7A):c.593-5C>T
|
rs762666 |
|
NM_000260.4(MYO7A):c.5930G>A (p.Arg1977Gln)
|
rs762420918 |
|
NM_000260.4(MYO7A):c.5943C>T (p.Asp1981=)
|
|
|
NM_000260.4(MYO7A):c.5945-1G>A
|
rs1268984037 |
|
NM_000260.4(MYO7A):c.5945-9G>C
|
|
|
NM_000260.4(MYO7A):c.5950G>A (p.Val1984Met)
|
rs377517717 |
|
NM_000260.4(MYO7A):c.5956_5959TCAC[3] (p.Tyr1989fs)
|
rs1555107555 |
|
NM_000260.4(MYO7A):c.5963C>T (p.Thr1988Ile)
|
|
|
NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter)
|
rs773844428 |
|
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs)
|
rs397516326 |
|
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn)
|
rs755934966 |
|
NM_000260.4(MYO7A):c.6051+1G>A
|
rs1403288739 |
|
NM_000260.4(MYO7A):c.6052-11G>C
|
rs112564978 |
|
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg)
|
rs876657655 |
|
NM_000260.4(MYO7A):c.6063G>A (p.Lys2021=)
|
rs111033209 |
|
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)
|
rs111033198 |
|
NM_000260.4(MYO7A):c.6090G>A (p.Thr2030=)
|
rs1381141633 |
|
NM_000260.4(MYO7A):c.6092G>A (p.Arg2031Gln)
|
rs762258869 |
|
NM_000260.4(MYO7A):c.6111G>A (p.Leu2037=)
|
|
|
NM_000260.4(MYO7A):c.616C>T (p.Arg206Cys)
|
rs782361954 |
|
NM_000260.4(MYO7A):c.617G>A (p.Arg206His)
|
rs781998354 |
|
NM_000260.4(MYO7A):c.618C>T (p.Arg206=)
|
rs375851346 |
|
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter)
|
rs1060499801 |
|
NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile)
|
rs200313391 |
|
NM_000260.4(MYO7A):c.6220C>T (p.Pro2074Ser)
|
rs747131589 |
|
NM_000260.4(MYO7A):c.6235C>T (p.Arg2079Trp)
|
rs759614902 |
|
NM_000260.4(MYO7A):c.6238-2A>C
|
rs1555109612 |
|
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=)
|
rs41298757 |
|
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr)
|
rs41298759 |
|
NM_000260.4(MYO7A):c.6318G>A (p.Lys2106=)
|
rs11237123 |
|
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)
|
rs111033486 |
|
NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter)
|
rs773945008 |
|
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile)
|
rs377670513 |
|
NM_000260.4(MYO7A):c.6345C>T (p.Phe2115=)
|
rs397516329 |
|
NM_000260.4(MYO7A):c.6349G>T (p.Val2117Leu)
|
rs1555109788 |
|
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys)
|
rs121965080 |
|
NM_000260.4(MYO7A):c.6350T>C (p.Val2117Ala)
|
rs1555109806 |
|
NM_000260.4(MYO7A):c.635G>A (p.Arg212His)
|
rs28934610 |
|
NM_000260.4(MYO7A):c.6363G>A (p.Thr2121=)
|
rs367738288 |
|
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg)
|
rs111033283 |
|
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn)
|
rs1132036 |
|
NM_000260.4(MYO7A):c.6433del (p.Thr2145fs)
|
rs1555110680 |
|
NM_000260.4(MYO7A):c.6439-2A>G
|
rs397516330 |
|
NM_000260.4(MYO7A):c.6459del (p.Phe2154fs)
|
rs1555111077 |
|
NM_000260.4(MYO7A):c.6478T>G (p.Trp2160Gly)
|
rs1003695470 |
|
NM_000260.4(MYO7A):c.6509C>T (p.Thr2170Ile)
|
rs544709413 |
|
NM_000260.4(MYO7A):c.6512T>C (p.Ile2171Thr)
|
|
|
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=)
|
rs111033230 |
|
NM_000260.4(MYO7A):c.652_657del (p.Asp218_Ile219del)
|
rs1555062984 |
|
NM_000260.4(MYO7A):c.6551C>T (p.Thr2184Met)
|
rs1383147250 |
|
NM_000260.4(MYO7A):c.6552G>A (p.Thr2184=)
|
rs370866578 |
|
NM_000260.4(MYO7A):c.6557T>C (p.Leu2186Pro)
|
rs876657417 |
|
NM_000260.4(MYO7A):c.6559-11C>T
|
rs34517202 |
|
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp)
|
rs397516332 |
|
NM_000260.4(MYO7A):c.6600G>C (p.Gln2200His)
|
rs779431269 |
|
NM_000260.4(MYO7A):c.6628_6643del (p.Gly2210fs)
|
rs1555111501 |
|
NM_000260.4(MYO7A):c.6632C>T (p.Ser2211Phe)
|
|
|
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser)
|
rs111033231 |
|
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr)
|
rs201753022 |
|
NM_000260.4(MYO7A):c.687C>T (p.Gly229=)
|
rs371142158 |
|
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter)
|
rs41298133 |
|
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys)
|
rs782166819 |
|
NM_000260.4(MYO7A):c.736-3C>T
|
rs1555063792 |
|
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg)
|
rs782252317 |
|
NM_000260.4(MYO7A):c.741G>A (p.Leu247=)
|
|
|
NM_000260.4(MYO7A):c.759C>T (p.His253=)
|
rs182220009 |
|
NM_000260.4(MYO7A):c.783T>C (p.Gly261=)
|
rs762667 |
|
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg)
|
rs184866544 |
|
NM_000260.4(MYO7A):c.813C>T (p.Gly271=)
|
|
|
NM_000260.4(MYO7A):c.849+5G>A
|
rs1060499716 |
|
NM_000260.4(MYO7A):c.874C>T (p.Arg292Trp)
|
rs782505601 |
|
NM_000260.4(MYO7A):c.895G>A (p.Ala299Thr)
|
rs372344870 |
|
NM_000260.4(MYO7A):c.905G>A (p.Arg302His)
|
rs41298135 |
|
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)
|
rs35689081 |
|
NM_000260.4(MYO7A):c.93C>T (p.Cys31=)
|
rs35689081 |
|
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln)
|
rs797044491 |
|
NM_000409.4(GUCA1A):c.149C>T (p.Pro50Leu)
|
rs104893968 |
|
NM_001142763.1:c.-189197_c.610-5166del
|
|
|
NM_001142769.3(PCDH15):c.4410-943G>A
|
rs1554816509 |
|
NM_001142769.3(PCDH15):c.4450C>A (p.Pro1484Thr)
|
rs1554816211 |
|
NM_001142769.3(PCDH15):c.4454C>T (p.Pro1485Leu)
|
rs1554816210 |
|
NM_001142769.3(PCDH15):c.4465G>T (p.Glu1489Ter)
|
rs1554816196 |
|
NM_001142769.3(PCDH15):c.4492_4503del (p.Ala1498_Glu1501del)
|
rs1554816165 |
|
NM_001142769.3(PCDH15):c.4519-1G>A
|
rs1554815909 |
|
NM_001142771.2(PCDH15):c.4497+1077_4497+1082del
|
rs1588876049 |
|
NM_001142771.2(PCDH15):c.4497+1257_4497+1258del
|
rs1554815781 |
|
NM_001142771.2(PCDH15):c.4497+1297_4497+1300dup
|
rs1343032451 |
|
NM_001142771.2(PCDH15):c.4497+1355_4497+1359dup
|
rs1588874677 |
|
NM_001142771.2(PCDH15):c.4497+1403GAG[5]
|
rs1272584101 |
|
NM_001142771.2(PCDH15):c.4497+1412G>T
|
rs1467453189 |
|
NM_001142771.2(PCDH15):c.4497+1420del
|
rs778088114 |
|
NM_001142771.2(PCDH15):c.4497+1511_4497+1519del
|
rs1554815654 |
|
NM_001142771.2(PCDH15):c.4497+1523G>T
|
rs755005336 |
|
NM_001142771.2(PCDH15):c.4497+1550C>T
|
rs765589050 |
|
NM_001142771.2(PCDH15):c.4497+1559C>T
|
rs368397508 |
|
NM_001142771.2(PCDH15):c.4497+1577GAA[3]
|
rs774006219 |
|
NM_001142771.2(PCDH15):c.4497+1617_4497+1637del
|
rs769671738 |
|
NM_001142771.2(PCDH15):c.4497+1708_4497+1711dup
|
rs1554815534 |
|
NM_001142771.2(PCDH15):c.4498-1564T>C
|
rs193186244 |
|
NM_001142771.2(PCDH15):c.4498-1648_4498-1644dup
|
rs1554815468 |
|
NM_001142771.2(PCDH15):c.4498-1662del
|
rs1554815484 |
|
NM_001142771.2(PCDH15):c.4498-1666G>T
|
rs1297423576 |
|
NM_001142771.2(PCDH15):c.4498-1709_4498-1706dup
|
rs1554815527 |
|
NM_001142771.2(PCDH15):c.4498-2A>G
|
rs1554814991 |
|
NM_001142771.2(PCDH15):c.4514_4517dup (p.Lys1507fs)
|
rs1589057333 |
|
NM_001142771.2(PCDH15):c.4534C>T (p.Arg1512Ter)
|
rs770416107 |
|
NM_001142771.2(PCDH15):c.4548del (p.Ser1517fs)
|
rs778963761 |
|
NM_001142771.2(PCDH15):c.4555_4560dup (p.Thr1519_Gly1520dup)
|
rs1554814938 |
|
NM_001142771.2(PCDH15):c.4565_4568dup (p.Ser1523fs)
|
rs1554814927 |
|
NM_001142771.2(PCDH15):c.4654_4661del (p.Ser1552fs)
|
rs750833316 |
|
NM_001142771.2(PCDH15):c.4692_4695dup (p.Lys1566fs)
|
rs757520086 |
|
NM_001142771.2(PCDH15):c.4740del (p.Asp1581fs)
|
rs1554814800 |
|
NM_001142771.2(PCDH15):c.4814_4817dup (p.Met1606fs)
|
rs760669176 |
|
NM_001142771.2(PCDH15):c.4816dup (p.Met1606fs)
|
rs766484375 |
|
NM_001142771.2(PCDH15):c.4869_4871dup (p.Asn1624dup)
|
rs1554814729 |
|
NM_001142771.2(PCDH15):c.4880T>C (p.Val1627Ala)
|
rs755487351 |
|
NM_001142771.2(PCDH15):c.4908_4909CA[1] (p.Thr1637fs)
|
rs1320916581 |
|
NM_001142771.2(PCDH15):c.4908_4915del (p.Ser1636fs)
|
rs1554814684 |
|
NM_001142771.2(PCDH15):c.4918C>T (p.Gln1640Ter)
|
rs1554814683 |
|
NM_001142771.2(PCDH15):c.4932_4935dup (p.Ser1646Ter)
|
rs1198732380 |
|
NM_001142771.2(PCDH15):c.4934_4937dup (p.Ser1646fs)
|
rs1554814669 |
|
NM_001142771.2(PCDH15):c.4982A>C (p.Gln1661Pro)
|
rs17704703 |
|
NM_001142771.2(PCDH15):c.4986_4988TGA[2] (p.Asp1664del)
|
rs1554814635 |
|
NM_001142771.2(PCDH15):c.5041A>T (p.Lys1681Ter)
|
rs1554814611 |
|
NM_001195263.2(PDZD7):c.1012del (p.Ser338fs)
|
rs1564634581 |
|
NM_001195263.2(PDZD7):c.166dup (p.Arg56fs)
|
rs587776894 |
|
NM_001195263.2(PDZD7):c.878G>A (p.Arg293Gln)
|
rs368026275 |
|
NM_001195794.1(CLRN1):c.-141C>T
|
|
|
NM_001195794.1(CLRN1):c.-186A>G
|
|
|
NM_001195794.1(CLRN1):c.-229A>G
|
|
|
NM_001195794.1(CLRN1):c.-274A>C
|
rs886058092 |
|
NM_001195794.1(CLRN1):c.-289G>A
|
rs55842922 |
|
NM_001195794.1(CLRN1):c.-71A>G
|
rs3796240 |
|
NM_001195794.1(CLRN1):c.-82T>C
|
rs778235601 |
|
NM_001195794.1(CLRN1):c.-91C>T
|
|
|
NM_001195794.1(CLRN1):c.118T>G (p.Cys40Gly)
|
rs121908143 |
|
NM_001195794.1(CLRN1):c.128G>T (p.Gly43Val)
|
rs933370216 |
|
NM_001195794.1(CLRN1):c.13C>T (p.Gln5Ter)
|
rs1057517224 |
|
NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258 |
|
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs)
|
rs786204428 |
|
NM_001195794.1(CLRN1):c.151_154del (p.Gly51fs)
|
rs1553776061 |
|
NM_001195794.1(CLRN1):c.183G>A (p.Met61Ile)
|
rs140094683 |
|
NM_001195794.1(CLRN1):c.184C>T (p.Gln62Ter)
|
rs1553776052 |
|
NM_001195794.1(CLRN1):c.185A>G (p.Gln62Arg)
|
|
|
NM_001195794.1(CLRN1):c.188_210del (p.Tyr63fs)
|
rs1553776036 |
|
NM_001195794.1(CLRN1):c.189C>A (p.Tyr63Ter)
|
rs111033267 |
|
NM_001195794.1(CLRN1):c.209G>A (p.Gly70Asp)
|
rs1559996059 |
|
NM_001195794.1(CLRN1):c.20A>T (p.Lys7Ile)
|
rs3796241 |
|
NM_001195794.1(CLRN1):c.218A>G (p.Gln73Arg)
|
rs201008540 |
|
NM_001195794.1(CLRN1):c.2T>C (p.Met1Thr)
|
rs1553776135 |
|
NM_001195794.1(CLRN1):c.3G>A (p.Met1Ile)
|
rs1553776132 |
|
NM_001195794.1(CLRN1):c.40G>T (p.Gly14Ter)
|
rs1553776112 |
|
NM_001195794.1(CLRN1):c.454_460ACCAGGC[3] (p.Gln157fs)
|
rs768093614 |
|
NM_001195794.1(CLRN1):c.57A>T (p.Ala19=)
|
rs3796242 |
|
NM_001195794.1(CLRN1):c.658C>T (p.Arg220Ter)
|
rs373208120 |
|
NM_001195794.1(CLRN1):c.65T>A (p.Leu22His)
|
rs1576651623 |
|
NM_001195794.1(CLRN1):c.699C>T (p.Asp233=)
|
rs148752352 |
|
NM_001195794.1(CLRN1):c.6A>C (p.Pro2=)
|
rs111033422 |
|
NM_001258040.2(HARS1):c.-126T>C
|
rs886060022 |
|
NM_002109.6(HARS1):c.*281C>T
|
rs77576083 |
|
NM_002109.6(HARS1):c.*312C>G
|
rs145532449 |
|
NM_002109.6(HARS1):c.*331A>T
|
rs886060018 |
|
NM_002109.6(HARS1):c.-1G>A
|
rs746588443 |
|
NM_002109.6(HARS1):c.-23G>A
|
rs545016707 |
|
NM_002109.6(HARS1):c.-3G>A
|
rs754488411 |
|
NM_002109.6(HARS1):c.-46A>G
|
rs369183621 |
|
NM_002109.6(HARS1):c.-64C>T
|
rs113209109 |
|
NM_002109.6(HARS1):c.1000G>A (p.Val334Met)
|
rs1554106875 |
|
NM_002109.6(HARS1):c.1009G>A (p.Glu337Lys)
|
|
|
NM_002109.6(HARS1):c.1009G>T (p.Glu337Ter)
|
rs1370029240 |
|
NM_002109.6(HARS1):c.1028C>T (p.Thr343Ile)
|
rs1562005331 |
|
NM_002109.6(HARS1):c.103G>A (p.Val35Met)
|
rs144588417 |
|
NM_002109.6(HARS1):c.1053C>G (p.Pro351=)
|
rs1435212159 |
|
NM_002109.6(HARS1):c.1067G>A (p.Ser356Asn)
|
rs144322728 |
|
NM_002109.6(HARS1):c.1084C>T (p.Arg362Cys)
|
rs751272874 |
|
NM_002109.6(HARS1):c.1110C>T (p.Phe370=)
|
rs761267344 |
|
NM_002109.6(HARS1):c.1111G>A (p.Asp371Asn)
|
rs753104645 |
|
NM_002109.6(HARS1):c.1123C>T (p.Arg375Cys)
|
rs774682373 |
|
NM_002109.6(HARS1):c.1124G>A (p.Arg375His)
|
rs151258227 |
|
NM_002109.6(HARS1):c.1127A>G (p.Lys376Arg)
|
rs139447495 |
|
NM_002109.6(HARS1):c.1133C>T (p.Pro378Leu)
|
rs377410852 |
|
NM_002109.6(HARS1):c.1151T>A (p.Ile384Asn)
|
|
|
NM_002109.6(HARS1):c.1160A>G (p.Glu387Gly)
|
rs1581503971 |
|
NM_002109.6(HARS1):c.1194+4G>A
|
rs370189312 |
|
NM_002109.6(HARS1):c.1196C>T (p.Ala399Val)
|
rs34732372 |
|
NM_002109.6(HARS1):c.1213C>A (p.Arg405=)
|
rs908109064 |
|
NM_002109.6(HARS1):c.1217C>A (p.Thr406Asn)
|
rs369070016 |
|
NM_002109.6(HARS1):c.1221G>A (p.Thr407=)
|
rs150274370 |
|
NM_002109.6(HARS1):c.1228C>T (p.Gln410Ter)
|
rs201011416 |
|
NM_002109.6(HARS1):c.1252_1254AAG[1] (p.Lys419del)
|
rs779289896 |
|
NM_002109.6(HARS1):c.1255_1256delinsCT (p.Lys419Leu)
|
|
|
NM_002109.6(HARS1):c.1261C>G (p.Leu421Val)
|
rs34790864 |
|
NM_002109.6(HARS1):c.1311+4T>C
|
rs958234389 |
|
NM_002109.6(HARS1):c.1312-8C>T
|
rs772505507 |
|
NM_002109.6(HARS1):c.1329_1331GAA[1] (p.Lys444del)
|
|
|
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser)
|
rs387906639 |
|
NM_002109.6(HARS1):c.1369G>A (p.Glu457Lys)
|
rs1204851184 |
|
NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr)
|
rs891844407 |
|
NM_002109.6(HARS1):c.1393A>G (p.Ile465Val)
|
|
|
NM_002109.6(HARS1):c.1402G>A (p.Glu468Lys)
|
rs199615869 |
|
NM_002109.6(HARS1):c.1420G>A (p.Gly474Arg)
|
|
|
NM_002109.6(HARS1):c.142G>A (p.Asp48Asn)
|
|
|
NM_002109.6(HARS1):c.1433T>G (p.Leu478Arg)
|
rs1024985302 |
|
NM_002109.6(HARS1):c.1439C>T (p.Ser480Leu)
|
rs1581500046 |
|
NM_002109.6(HARS1):c.1445C>T (p.Thr482Met)
|
rs147372931 |
|
NM_002109.6(HARS1):c.1458+7G>A
|
rs58302597 |
|
NM_002109.6(HARS1):c.1459-1G>C
|
rs1300317175 |
|
NM_002109.6(HARS1):c.1461G>A (p.Val487=)
|
rs931036155 |
|
NM_002109.6(HARS1):c.1468C>T (p.Arg490Ter)
|
|
|
NM_002109.6(HARS1):c.1469G>A (p.Arg490Gln)
|
|
|
NM_002109.6(HARS1):c.14C>A (p.Ala5Glu)
|
rs78741041 |
|
NM_002109.6(HARS1):c.1526G>T (p.Cys509Phe)
|
|
|
NM_002109.6(HARS1):c.155A>C (p.Gln52Pro)
|
rs201398055 |
|
NM_002109.6(HARS1):c.159A>G (p.Lys53=)
|
|
|
NM_002109.6(HARS1):c.182G>A (p.Gly61Asp)
|
rs886060021 |
|
NM_002109.6(HARS1):c.199C>T (p.Pro67Ser)
|
rs1581516557 |
|
NM_002109.6(HARS1):c.203G>A (p.Arg68Gln)
|
rs753788498 |
|
NM_002109.6(HARS1):c.218G>A (p.Arg73His)
|
rs767325912 |
|
NM_002109.6(HARS1):c.220G>A (p.Glu74Lys)
|
rs774017621 |
|
NM_002109.6(HARS1):c.234C>T (p.Asp78=)
|
rs142994969 |
|
NM_002109.6(HARS1):c.244C>T (p.Arg82Cys)
|
rs769340873 |
|
NM_002109.6(HARS1):c.296T>G (p.Leu99Arg)
|
|
|
NM_002109.6(HARS1):c.364G>A (p.Gly122Arg)
|
rs749493279 |
|
NM_002109.6(HARS1):c.382C>T (p.Arg128Cys)
|
rs138582560 |
|
NM_002109.6(HARS1):c.390C>T (p.Asp130=)
|
rs754863405 |
|
NM_002109.6(HARS1):c.397-10_397-9del
|
rs886060020 |
|
NM_002109.6(HARS1):c.39T>G (p.Leu13=)
|
rs1453807986 |
|
NM_002109.6(HARS1):c.407C>T (p.Ala136Val)
|
rs1334234821 |
|
NM_002109.6(HARS1):c.409C>T (p.Arg137Trp)
|
|
|
NM_002109.6(HARS1):c.40C>A (p.Gln14Lys)
|
rs117579809 |
|
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln)
|
rs191391414 |
|
NM_002109.6(HARS1):c.457G>T (p.Ala153Ser)
|
rs746887565 |
|
NM_002109.6(HARS1):c.465A>G (p.Val155=)
|
rs1202503765 |
|
NM_002109.6(HARS1):c.527T>A (p.Phe176Tyr)
|
rs745780898 |
|
NM_002109.6(HARS1):c.52G>A (p.Val18Met)
|
rs774632798 |
|
NM_002109.6(HARS1):c.545T>G (p.Phe182Cys)
|
|
|
NM_002109.6(HARS1):c.588C>T (p.Cys196=)
|
rs2230361 |
|
NM_002109.6(HARS1):c.602C>G (p.Ser201Ter)
|
rs780654800 |
|
NM_002109.6(HARS1):c.612A>G (p.Ile204Met)
|
rs1562008815 |
|
NM_002109.6(HARS1):c.614G>A (p.Gly205Asp)
|
rs147288996 |
|
NM_002109.6(HARS1):c.61C>T (p.Leu21Phe)
|
rs762976181 |
|
NM_002109.6(HARS1):c.622C>T (p.Leu208=)
|
rs754094386 |
|
NM_002109.6(HARS1):c.629_630+4del
|
rs1562008713 |
|
NM_002109.6(HARS1):c.62T>G (p.Leu21Arg)
|
|
|
NM_002109.6(HARS1):c.639T>G (p.Asp213Glu)
|
rs1562008284 |
|
NM_002109.6(HARS1):c.655G>A (p.Gly219Arg)
|
|
|
NM_002109.6(HARS1):c.677T>A (p.Val226Asp)
|
|
|
NM_002109.6(HARS1):c.679T>G (p.Ser227Ala)
|
rs768076848 |
|
NM_002109.6(HARS1):c.694C>T (p.Arg232Cys)
|
rs186526524 |
|
NM_002109.6(HARS1):c.695G>A (p.Arg232His)
|
|
|
NM_002109.6(HARS1):c.729+3A>G
|
rs938453967 |
|
NM_002109.6(HARS1):c.72G>A (p.Gln24=)
|
rs148516171 |
|
NM_002109.6(HARS1):c.782C>G (p.Pro261Arg)
|
rs1319398620 |
|
NM_002109.6(HARS1):c.797G>A (p.Arg266His)
|
rs765223763 |
|
NM_002109.6(HARS1):c.797G>T (p.Arg266Leu)
|
|
|
NM_002109.6(HARS1):c.800T>C (p.Ile267Thr)
|
rs766324898 |
|
NM_002109.6(HARS1):c.811G>A (p.Val271Ile)
|
rs149018062 |
|
NM_002109.6(HARS1):c.88C>A (p.Leu30Met)
|
rs1247070065 |
|
NM_002109.6(HARS1):c.90+1G>C
|
rs1554109203 |
|
NM_002109.6(HARS1):c.903C>T (p.Asp301=)
|
rs146835587 |
|
NM_002109.6(HARS1):c.911_922del (p.Leu304_Glu307del)
|
rs794727969 |
|
NM_002109.6(HARS1):c.951+15G>T
|
rs886060019 |
|
NM_002778.4(PSAP):c.*238G>C
|
|
|
NM_002778.4(PSAP):c.*891G>A
|
rs7869 |
|
NM_002778.4(PSAP):c.1350+5G>A
|
rs11000016 |
|
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs)
|
rs397515359 |
|
NM_005709.4(USH1C):c.1284+6880del
|
rs745622612 |
|
NM_006017.3(PROM1):c.1462G>T (p.Gly488Ter)
|
rs1560449207 |
|
NM_006017.3(PROM1):c.1983+5G>T
|
rs1560421595 |
|
NM_006383.4(CIB2):c.192G>C (p.Glu64Asp)
|
rs145415848 |
|
NM_007123.5(USH2A):c.*1024T>C
|
rs439940 |
|
NM_007123.5(USH2A):c.*1077T>C
|
rs886045945 |
|
NM_007123.5(USH2A):c.*1128G>T
|
rs401269 |
|
NM_007123.5(USH2A):c.*131T>G
|
rs55761862 |
|
NM_007123.5(USH2A):c.*147T>C
|
rs771693146 |
|
NM_007123.5(USH2A):c.*267T>C
|
rs570544314 |
|
NM_007123.5(USH2A):c.*316A>G
|
rs886045949 |
|
NM_007123.5(USH2A):c.*397A>G
|
rs772732997 |
|
NM_007123.5(USH2A):c.*547T>C
|
rs566131886 |
|
NM_007123.5(USH2A):c.*548C>T
|
rs769348449 |
|
NM_007123.5(USH2A):c.*575C>A
|
rs886045948 |
|
NM_007123.5(USH2A):c.*596G>A
|
rs886045947 |
|
NM_007123.5(USH2A):c.*685C>A
|
rs59704861 |
|
NM_007123.5(USH2A):c.*787C>G
|
rs41277222 |
|
NM_007123.5(USH2A):c.*799C>T
|
rs192047831 |
|
NM_007123.5(USH2A):c.*837A>G
|
rs779885066 |
|
NM_007123.5(USH2A):c.-159G>C
|
rs886045955 |
|
NM_007123.5(USH2A):c.-181C>T
|
rs866904288 |
|
NM_007123.5(USH2A):c.-229C>T
|
rs151238022 |
|
NM_007123.5(USH2A):c.-289C>A
|
rs886045956 |
|
NM_007123.5(USH2A):c.-289C>T
|
rs886045956 |
|
NM_007123.5(USH2A):c.-355C>G
|
rs868097748 |
|
NM_007123.5(USH2A):c.1039_1041del (p.Asp347del)
|
rs1553250786 |
|
NM_007123.5(USH2A):c.126C>T (p.Asn42=)
|
rs774473277 |
|
NM_007123.5(USH2A):c.1312_1327dup (p.Asn443fs)
|
rs1415157305 |
|
NM_007123.5(USH2A):c.1327A>G (p.Asn443Asp)
|
rs775075026 |
|
NM_007123.5(USH2A):c.1363A>G (p.Ser455Gly)
|
rs866877329 |
|
NM_007123.5(USH2A):c.1438G>A (p.Val480Ile)
|
rs138694314 |
|
NM_007123.5(USH2A):c.1516_1518TAT[1] (p.Tyr507del)
|
rs1553250595 |
|
NM_007123.5(USH2A):c.1539C>T (p.Thr513=)
|
rs199939890 |
|
NM_007123.5(USH2A):c.1547G>T (p.Gly516Val)
|
rs1415484067 |
|
NM_007123.5(USH2A):c.1586_1588CAA[1] (p.Thr530del)
|
rs1553250409 |
|
NM_007123.5(USH2A):c.1789C>A (p.His597Asn)
|
rs201127450 |
|
NM_007123.5(USH2A):c.1803del (p.Gly602fs)
|
rs1553327452 |
|
NM_007123.5(USH2A):c.1829A>C (p.His610Pro)
|
rs1571668556 |
|
NM_007123.5(USH2A):c.1900G>T (p.Ala634Ser)
|
rs759589036 |
|
NM_007123.5(USH2A):c.1903A>G (p.Ile635Val)
|
rs201808654 |
|
NM_007123.5(USH2A):c.2279A>G (p.Asn760Ser)
|
rs776095235 |
|
NM_007123.5(USH2A):c.2279_2280del (p.Asn760fs)
|
rs1553320542 |
|
NM_007123.5(USH2A):c.2299del (p.Glu767fs)
|
rs80338903 |
|
NM_007123.5(USH2A):c.2309_2311AAG[1] (p.Glu771del)
|
rs1553320519 |
|
NM_007123.5(USH2A):c.2390_2410dup (p.Pro804_Gly805insArgAspThrAlaGlySerLeu)
|
rs1553320498 |
|
NM_007123.5(USH2A):c.2435_2446del (p.Thr812_Cys815del)
|
rs757082108 |
|
NM_007123.5(USH2A):c.2459A>G (p.Asn820Ser)
|
rs34447581 |
|
NM_007123.5(USH2A):c.2534del (p.Leu845fs)
|
rs1572088481 |
|
NM_007123.5(USH2A):c.2616del (p.Gly873_Val874insTer)
|
rs1553320451 |
|
NM_007123.5(USH2A):c.2810G>T (p.Gly937Val)
|
rs1572074313 |
|
NM_007123.5(USH2A):c.2898del (p.Thr967fs)
|
rs397518008 |
|
NM_007123.5(USH2A):c.302del (p.Phe101fs)
|
rs1553258076 |
|
NM_007123.5(USH2A):c.3129dup (p.Val1044fs)
|
rs786205115 |
|
NM_007123.5(USH2A):c.313_321del (p.Leu105_Ser107del)
|
rs1396847135 |
|
NM_007123.5(USH2A):c.3157+12C>T
|
rs199853422 |
|
NM_007123.5(USH2A):c.3158-47_3158-17del
|
rs1553315049 |
|
NM_007123.5(USH2A):c.3177G>A (p.Pro1059=)
|
rs767648070 |
|
NM_007123.5(USH2A):c.3199_3201TCT[1] (p.Ser1068del)
|
rs1461275915 |
|
NM_007123.5(USH2A):c.3250_3251insTACTTACAGTTTACT (p.Trp1084_Leu1085insLeuLeuThrValTyr)
|
rs1553314999 |
|
NM_007123.5(USH2A):c.3317-14del
|
rs376363548 |
|
NM_007123.5(USH2A):c.3342C>T (p.Asp1114=)
|
rs755765979 |
|
NM_007123.5(USH2A):c.3435del (p.Val1147fs)
|
rs397518012 |
|
NM_007123.5(USH2A):c.3489C>T (p.Asp1163=)
|
rs139156019 |
|
NM_007123.5(USH2A):c.3492_3493TG[1] (p.Val1165fs)
|
rs1553313844 |
|
NM_007123.5(USH2A):c.3596_3598del (p.Glu1199del)
|
rs1294733964 |
|
NM_007123.5(USH2A):c.3680dup (p.Cys1228fs)
|
rs1553313793 |
|
NM_007123.5(USH2A):c.3725C>T (p.Pro1242Leu)
|
rs886045954 |
|
NM_007123.5(USH2A):c.3831_3834delinsG (p.Leu1278del)
|
rs1215540106 |
|
NM_007123.5(USH2A):c.3891del (p.Gln1298fs)
|
rs1553313551 |
|
NM_007123.5(USH2A):c.3967del (p.Thr1322_Met1323insTer)
|
rs527236136 |
|
NM_007123.5(USH2A):c.3969G>A (p.Met1323Ile)
|
rs886045953 |
|
NM_007123.5(USH2A):c.402del (p.Cys135fs)
|
rs1255535680 |
|
NM_007123.5(USH2A):c.415_417CCT[1] (p.Pro140del)
|
rs773595155 |
|
NM_007123.5(USH2A):c.4189_4193dup (p.Ile1399fs)
|
rs1553313308 |
|
NM_007123.5(USH2A):c.4252-36CTTT[5]
|
rs372388546 |
|
NM_007123.5(USH2A):c.4252-36CTTT[7]
|
rs372388546 |
|
NM_007123.5(USH2A):c.4276G>A (p.Glu1426Lys)
|
rs886045952 |
|
NM_007123.5(USH2A):c.4349T>C (p.Val1450Ala)
|
rs886045951 |
|
NM_007123.5(USH2A):c.4366G>A (p.Ala1456Thr)
|
rs886045950 |
|
NM_007123.5(USH2A):c.4412G>C (p.Arg1471Thr)
|
rs369357349 |
|
NM_007123.5(USH2A):c.442_443inv (p.Phe148Asn)
|
|
|
NM_007123.5(USH2A):c.4521_4522insCAGTCA (p.Ser1508_Leu1509insGlnSer)
|
rs1553310736 |
|
NM_007123.5(USH2A):c.4603dup (p.His1535fs)
|
rs1572020896 |
|
NM_007123.5(USH2A):c.485+3A>T
|
rs1553258031 |
|
NM_007123.5(USH2A):c.545_546del (p.Lys182fs)
|
rs780779563 |
|
NM_007123.5(USH2A):c.586C>T (p.Pro196Ser)
|
rs756041909 |
|
NM_007123.5(USH2A):c.651+15A>G
|
rs765252898 |
|
NM_007123.5(USH2A):c.779T>G (p.Leu260Ter)
|
rs121912598 |
|
NM_007123.5(USH2A):c.849-4A>G
|
rs765189933 |
|
NM_007123.5(USH2A):c.895del (p.Gln299fs)
|
rs1338169194 |
|
NM_007123.5(USH2A):c.920_923dup (p.His308fs)
|
rs397518043 |
|
NM_007123.5(USH2A):c.950G>A (p.Arg317Gln)
|
rs760741238 |
|
NM_007123.5(USH2A):c.999_1000dup (p.Arg334fs)
|
rs1571703770 |
|
NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter)
|
rs749314857 |
|
NM_012208.4(HARS2):c.-117G>C
|
rs886060023 |
|
NM_012208.4(HARS2):c.-160C>A
|
rs781279092 |
|
NM_012208.4(HARS2):c.-166G>C
|
rs570668430 |
|
NM_012208.4(HARS2):c.-187C>G
|
rs537319282 |
|
NM_012208.4(HARS2):c.7C>G (p.Leu3Val)
|
rs186043734 |
|
NM_014960.5(ARSG):c.133G>T (p.Asp45Tyr)
|
rs1568445893 |
|
NM_015404.4(WHRN):c.*126C>A
|
|
|
NM_015404.4(WHRN):c.*149A>G
|
rs563858014 |
|
NM_015404.4(WHRN):c.*156G>A
|
rs567661962 |
|
NM_015404.4(WHRN):c.*175C>T
|
|
|
NM_015404.4(WHRN):c.*187A>G
|
rs779279060 |
|
NM_015404.4(WHRN):c.*188A>T
|
rs549537695 |
|
NM_015404.4(WHRN):c.*325dup
|
rs886063369 |
|
NM_015404.4(WHRN):c.*339C>A
|
|
|
NM_015404.4(WHRN):c.*357C>G
|
rs886063368 |
|
NM_015404.4(WHRN):c.*37C>G
|
rs549195233 |
|
NM_015404.4(WHRN):c.*438T>G
|
|
|
NM_015404.4(WHRN):c.*495T>C
|
|
|
NM_015404.4(WHRN):c.*554C>T
|
rs886063367 |
|
NM_015404.4(WHRN):c.*583C>T
|
|
|
NM_015404.4(WHRN):c.*613A>G
|
|
|
NM_015404.4(WHRN):c.*633T>C
|
rs886063366 |
|
NM_015404.4(WHRN):c.-204C>G
|
|
|
NM_015404.4(WHRN):c.-23C>G
|
rs770413185 |
|
NM_015404.4(WHRN):c.-257C>G
|
rs73555447 |
|
NM_015404.4(WHRN):c.-269C>A
|
rs551952938 |
|
NM_015404.4(WHRN):c.-295C>G
|
rs7861589 |
|
NM_015404.4(WHRN):c.-305C>T
|
|
|
NM_015404.4(WHRN):c.-310G>T
|
|
|
NM_015404.4(WHRN):c.-314C>T
|
|
|
NM_015404.4(WHRN):c.-391C>A
|
rs4527950 |
|
NM_015404.4(WHRN):c.-483G>A
|
rs886063374 |
|
NM_015404.4(WHRN):c.-499G>A
|
rs886063375 |
|
NM_015404.4(WHRN):c.-505C>T
|
|
|
NM_015404.4(WHRN):c.-510G>A
|
rs10759714 |
|
NM_015404.4(WHRN):c.-517C>T
|
rs886063376 |
|
NM_015404.4(WHRN):c.-570C>G
|
|
|
NM_015404.4(WHRN):c.-581C>T
|
rs886063377 |
|
NM_015404.4(WHRN):c.-583C>T
|
rs755158483 |
|
NM_015404.4(WHRN):c.-595G>A
|
|
|
NM_015404.4(WHRN):c.-608_-601del
|
rs150944893 |
|
NM_015404.4(WHRN):c.-91C>T
|
rs2297814 |
|
NM_015404.4(WHRN):c.-92C>T
|
|
|
NM_015404.4(WHRN):c.1014A>G (p.Leu338=)
|
rs886063373 |
|
NM_015404.4(WHRN):c.1072G>A (p.Asp358Asn)
|
|
|
NM_015404.4(WHRN):c.1075G>A (p.Val359Ile)
|
rs147500559 |
|
NM_015404.4(WHRN):c.1091= (p.His364=)
|
rs10817610 |
|
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp)
|
rs56059137 |
|
NM_015404.4(WHRN):c.1148C>A (p.Thr383Asn)
|
rs147283064 |
|
NM_015404.4(WHRN):c.1149C>T (p.Thr383=)
|
rs149558159 |
|
NM_015404.4(WHRN):c.1160C>T (p.Ser387Leu)
|
rs763451514 |
|
NM_015404.4(WHRN):c.1161G>A (p.Ser387=)
|
rs201105262 |
|
NM_015404.4(WHRN):c.1166G>A (p.Gly389Glu)
|
|
|
NM_015404.4(WHRN):c.117G>A (p.Val39=)
|
rs2297815 |
|
NM_015404.4(WHRN):c.1227C>T (p.Ala409=)
|
rs758129253 |
|
NM_015404.4(WHRN):c.1305C>T (p.Asn435=)
|
rs150407952 |
|
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr)
|
rs4978584 |
|
NM_015404.4(WHRN):c.1331A>G (p.Tyr444Cys)
|
rs45530335 |
|
NM_015404.4(WHRN):c.1349G>A (p.Arg450His)
|
rs200377723 |
|
NM_015404.4(WHRN):c.1351G>C (p.Gly451Arg)
|
rs886063372 |
|
NM_015404.4(WHRN):c.1352G>A (p.Gly451Asp)
|
rs117352600 |
|
NM_015404.4(WHRN):c.1353T>C (p.Gly451=)
|
rs4979387 |
|
NM_015404.4(WHRN):c.1365T>C (p.Ser455=)
|
rs111033459 |
|
NM_015404.4(WHRN):c.1378G>A (p.Val460Ile)
|
rs373389359 |
|
NM_015404.4(WHRN):c.1381A>C (p.Met461Leu)
|
rs144878400 |
|
NM_015404.4(WHRN):c.1389G>T (p.Leu463=)
|
|
|
NM_015404.4(WHRN):c.139A>G (p.Thr47Ala)
|
rs556585167 |
|
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu)
|
rs79572315 |
|
NM_015404.4(WHRN):c.1455G>A (p.Pro485=)
|
rs141807746 |
|
NM_015404.4(WHRN):c.1515G>A (p.Ala505=)
|
rs34252199 |
|
NM_015404.4(WHRN):c.1555A>G (p.Met519Val)
|
|
|
NM_015404.4(WHRN):c.1608C>G (p.Thr536=)
|
rs139337135 |
|
NM_015404.4(WHRN):c.1626+8T>G
|
rs547616329 |
|
NM_015404.4(WHRN):c.1627-12G>A
|
rs2274160 |
|
NM_015404.4(WHRN):c.1627-5T>A
|
rs187221008 |
|
NM_015404.4(WHRN):c.1627-7T>G
|
|
|
NM_015404.4(WHRN):c.164G>C (p.Arg55Pro)
|
rs775066754 |
|
NM_015404.4(WHRN):c.1683C>T (p.Leu561=)
|
rs886063371 |
|
NM_015404.4(WHRN):c.1684C>G (p.Pro562Ala)
|
rs12339210 |
|
NM_015404.4(WHRN):c.1716C>T (p.Thr572=)
|
rs760471578 |
|
NM_015404.4(WHRN):c.1838T>C (p.Met613Thr)
|
rs942519 |
|
NM_015404.4(WHRN):c.1887G>A (p.Pro629=)
|
rs143443833 |
|
NM_015404.4(WHRN):c.1892C>T (p.Ala631Val)
|
rs141168514 |
|
NM_015404.4(WHRN):c.1909C>A (p.Pro637Thr)
|
|
|
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp)
|
rs146655362 |
|
NM_015404.4(WHRN):c.1929G>A (p.Gln643=)
|
|
|
NM_015404.4(WHRN):c.1992G>A (p.Pro664=)
|
rs142568702 |
|
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg)
|
rs572671060 |
|
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg)
|
rs139279977 |
|
NM_015404.4(WHRN):c.2046G>C (p.Arg682=)
|
rs35258467 |
|
NM_015404.4(WHRN):c.2056C>A (p.Pro686Thr)
|
rs201690920 |
|
NM_015404.4(WHRN):c.2130C>A (p.Gly710=)
|
rs781674400 |
|
NM_015404.4(WHRN):c.2173G>C (p.Glu725Gln)
|
rs376805417 |
|
NM_015404.4(WHRN):c.2231C>T (p.Thr744Met)
|
|
|
NM_015404.4(WHRN):c.2234G>A (p.Arg745His)
|
|
|
NM_015404.4(WHRN):c.2237-10C>G
|
rs200131193 |
|
NM_015404.4(WHRN):c.2248C>G (p.Leu750Val)
|
rs751455932 |
|
NM_015404.4(WHRN):c.2256= (p.Gln752=)
|
rs6478078 |
|
NM_015404.4(WHRN):c.2261C>T (p.Ser754Leu)
|
rs768714315 |
|
NM_015404.4(WHRN):c.2283C>T (p.Ser761=)
|
rs34963246 |
|
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser)
|
rs56204273 |
|
NM_015404.4(WHRN):c.2322C>T (p.Ser774=)
|
rs55966714 |
|
NM_015404.4(WHRN):c.2348T>C (p.Val783Ala)
|
rs2274159 |
|
NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile)
|
rs201555289 |
|
NM_015404.4(WHRN):c.2381C>T (p.Pro794Leu)
|
rs886063370 |
|
NM_015404.4(WHRN):c.2383C>T (p.Arg795Trp)
|
rs545286422 |
|
NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln)
|
rs143763650 |
|
NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys)
|
rs2274158 |
|
NM_015404.4(WHRN):c.2419-5C>T
|
|
|
NM_015404.4(WHRN):c.2419C>G (p.Pro807Ala)
|
rs569112844 |
|
NM_015404.4(WHRN):c.2438C>T (p.Thr813Met)
|
|
|
NM_015404.4(WHRN):c.2439G>A (p.Thr813=)
|
rs61743618 |
|
NM_015404.4(WHRN):c.2509C>T (p.Arg837Cys)
|
|
|
NM_015404.4(WHRN):c.2569C>T (p.Gln857Ter)
|
rs727504817 |
|
NM_015404.4(WHRN):c.2586C>A (p.His862Gln)
|
rs117592152 |
|
NM_015404.4(WHRN):c.2612C>T (p.Thr871Met)
|
|
|
NM_015404.4(WHRN):c.2633G>A (p.Arg878Gln)
|
|
|
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser)
|
rs150586098 |
|
NM_015404.4(WHRN):c.2653G>A (p.Ala885Thr)
|
|
|
NM_015404.4(WHRN):c.2665A>G (p.Lys889Glu)
|
|
|
NM_015404.4(WHRN):c.307C>T (p.Gln103Ter)
|
rs137852840 |
|
NM_015404.4(WHRN):c.324A>G (p.Gln108=)
|
|
|
NM_015404.4(WHRN):c.328A>G (p.Thr110Ala)
|
rs572312301 |
|
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg)
|
rs45527543 |
|
NM_015404.4(WHRN):c.549G>A (p.Arg183=)
|
rs147477922 |
|
NM_015404.4(WHRN):c.667C>T (p.Arg223Cys)
|
rs76593842 |
|
NM_015404.4(WHRN):c.668G>A (p.Arg223His)
|
rs146273185 |
|
NM_015404.4(WHRN):c.680G>T (p.Gly227Val)
|
|
|
NM_015404.4(WHRN):c.680dup (p.Tyr228fs)
|
rs1306987034 |
|
NM_015404.4(WHRN):c.684C>T (p.Tyr228=)
|
|
|
NM_015404.4(WHRN):c.690C>T (p.Thr230=)
|
rs779112096 |
|
NM_015404.4(WHRN):c.695A>C (p.His232Pro)
|
|
|
NM_015404.4(WHRN):c.737del (p.Pro246fs)
|
rs1589229634 |
|
NM_015404.4(WHRN):c.762C>T (p.His254=)
|
|
|
NM_015404.4(WHRN):c.837+5G>C
|
rs201863779 |
|
NM_015404.4(WHRN):c.933A>C (p.Pro311=)
|
rs569159249 |
|
NM_015404.4(WHRN):c.955G>T (p.Gly319Trp)
|
rs143165834 |
|
NM_015404.4(WHRN):c.958C>T (p.Leu320Phe)
|
rs780855079 |
|
NM_022124.6(CDH23):c.*104G>C
|
rs377312107 |
|
NM_022124.6(CDH23):c.*117dup
|
rs886047145 |
|
NM_022124.6(CDH23):c.*141G>A
|
rs535544696 |
|
NM_022124.6(CDH23):c.*173C>T
|
|
|
NM_022124.6(CDH23):c.*1C>G
|
rs768199443 |
|
NM_022124.6(CDH23):c.*204A>G
|
rs2290022 |
|
NM_022124.6(CDH23):c.*247C>T
|
|
|
NM_022124.6(CDH23):c.*349A>G
|
rs1867978 |
|
NM_022124.6(CDH23):c.*361C>A
|
rs115033851 |
|
NM_022124.6(CDH23):c.*408G>A
|
|
|
NM_022124.6(CDH23):c.*430A>T
|
rs562268606 |
|
NM_022124.6(CDH23):c.*434G>A
|
rs529522213 |
|
NM_022124.6(CDH23):c.*439C>T
|
rs140312023 |
|
NM_022124.6(CDH23):c.*478G>C
|
rs564392413 |
|
NM_022124.6(CDH23):c.*481G>A
|
|
|
NM_022124.6(CDH23):c.*509C>T
|
|
|
NM_022124.6(CDH23):c.*510G>A
|
rs1054635 |
|
NM_022124.6(CDH23):c.*515C>A
|
rs16929375 |
|
NM_022124.6(CDH23):c.*56G>A
|
|
|
NM_022124.6(CDH23):c.*588del
|
rs148667421 |
|
NM_022124.6(CDH23):c.*612G>A
|
rs886047147 |
|
NM_022124.6(CDH23):c.*68G>C
|
rs527311705 |
|
NM_022124.6(CDH23):c.*76G>A
|
|
|
NM_022124.6(CDH23):c.*80G>A
|
rs75715348 |
|
NM_022124.6(CDH23):c.*83G>A
|
rs886047143 |
|
NM_022124.6(CDH23):c.*85G>A
|
rs886047144 |
|
NM_022124.6(CDH23):c.-15C>A
|
rs760922529 |
|
NM_022124.6(CDH23):c.-168C>T
|
rs886047126 |
|
NM_022124.6(CDH23):c.-185G>C
|
rs545081281 |
|
NM_022124.6(CDH23):c.-197_-191GAGCGGC[3]
|
rs527578984 |
|
NM_022124.6(CDH23):c.-197_-191GAGCGGC[5]
|
rs527578984 |
|
NM_022124.6(CDH23):c.-1C>T
|
rs41281302 |
|
NM_022124.6(CDH23):c.-258G>A
|
rs139742443 |
|
NM_022124.6(CDH23):c.-276G>A
|
rs886047123 |
|
NM_022124.6(CDH23):c.-346G>T
|
rs886047122 |
|
NM_022124.6(CDH23):c.-353C>G
|
rs886047121 |
|
NM_022124.6(CDH23):c.-38G>C
|
rs886047128 |
|
NM_022124.6(CDH23):c.-45_-41AGGCG[2]
|
rs71012280 |
|
NM_022124.6(CDH23):c.-45_-41AGGCG[4]
|
rs71012280 |
|
NM_022124.6(CDH23):c.-55G>A
|
|
|
NM_022124.6(CDH23):c.-6+13A>C
|
|
|
NM_022124.6(CDH23):c.10010T>C (p.Leu3337Pro)
|
rs746750273 |
|
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)
|
rs377118941 |
|
NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln)
|
rs562525508 |
|
NM_022124.6(CDH23):c.10042C>A (p.Pro3348Thr)
|
rs745358868 |
|
NM_022124.6(CDH23):c.10044C>G (p.Pro3348=)
|
rs370568585 |
|
NM_022124.6(CDH23):c.1038G>A (p.Pro346=)
|
rs74608315 |
|
NM_022124.6(CDH23):c.1053C>T (p.Ser351=)
|
rs7903475 |
|
NM_022124.6(CDH23):c.1061G>A (p.Ser354Asn)
|
rs200792189 |
|
NM_022124.6(CDH23):c.1062C>T (p.Ser354=)
|
rs775091135 |
|
NM_022124.6(CDH23):c.1068C>T (p.Ala356=)
|
rs141247813 |
|
NM_022124.6(CDH23):c.1078C>T (p.Leu360=)
|
rs185917383 |
|
NM_022124.6(CDH23):c.1089C>T (p.Val363=)
|
rs556135873 |
|
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr)
|
rs143282422 |
|
NM_022124.6(CDH23):c.1134+13A>G
|
rs7903502 |
|
NM_022124.6(CDH23):c.1140+14T>C
|
|
|
NM_022124.6(CDH23):c.1168T>C (p.Leu390=)
|
rs369803887 |
|
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)
|
rs188376296 |
|
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn)
|
rs111033369 |
|
NM_022124.6(CDH23):c.1363G>A (p.Asp455Asn)
|
rs727502920 |
|
NM_022124.6(CDH23):c.1421C>T (p.Thr474Ile)
|
|
|
NM_022124.6(CDH23):c.1423G>A (p.Val475Met)
|
rs62622410 |
|
NM_022124.6(CDH23):c.1450-10G>A
|
rs751220612 |
|
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala)
|
rs1227049 |
|
NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile)
|
rs397517307 |
|
NM_022124.6(CDH23):c.1487G>A (p.Ser496Asn)
|
rs10999947 |
|
NM_022124.6(CDH23):c.1515-12G>A
|
rs369396703 |
|
NM_022124.6(CDH23):c.1566C>T (p.Asp522=)
|
|
|
NM_022124.6(CDH23):c.1584C>T (p.Arg528=)
|
rs397517309 |
|
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met)
|
rs201297042 |
|
NM_022124.6(CDH23):c.1607G>A (p.Arg536Gln)
|
rs376414013 |
|
NM_022124.6(CDH23):c.1621G>A (p.Glu541Lys)
|
rs562019725 |
|
NM_022124.6(CDH23):c.1665C>T (p.Asn555=)
|
rs397517310 |
|
NM_022124.6(CDH23):c.1672G>A (p.Val558Met)
|
rs780661396 |
|
NM_022124.6(CDH23):c.1719C>T (p.Asn573=)
|
rs761913744 |
|
NM_022124.6(CDH23):c.173A>G (p.Gln58Arg)
|
rs61732490 |
|
NM_022124.6(CDH23):c.1751G>A (p.Arg584Gln)
|
rs776970952 |
|
NM_022124.6(CDH23):c.1756A>G (p.Thr586Ala)
|
|
|
NM_022124.6(CDH23):c.1778A>C (p.Asn593Thr)
|
rs756958499 |
|
NM_022124.6(CDH23):c.1803C>G (p.Val601=)
|
rs201024982 |
|
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val)
|
rs201475055 |
|
NM_022124.6(CDH23):c.1858+6T>C
|
rs745522676 |
|
NM_022124.6(CDH23):c.193del (p.Leu65fs)
|
rs796051861 |
|
NM_022124.6(CDH23):c.1963G>A (p.Val655Ile)
|
rs374805957 |
|
NM_022124.6(CDH23):c.1986+10C>A
|
|
|
NM_022124.6(CDH23):c.1987-1G>A
|
rs1060499714 |
|
NM_022124.6(CDH23):c.198G>A (p.Val66=)
|
rs111033288 |
|
NM_022124.6(CDH23):c.2038G>A (p.Val680Met)
|
|
|
NM_022124.6(CDH23):c.204C>T (p.Gly68=)
|
rs116624130 |
|
NM_022124.6(CDH23):c.2059+6G>A
|
rs727502923 |
|
NM_022124.6(CDH23):c.205G>A (p.Val69Met)
|
|
|
NM_022124.6(CDH23):c.2112C>T (p.Tyr704=)
|
rs565266663 |
|
NM_022124.6(CDH23):c.2176+12C>T
|
rs371967419 |
|
NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter)
|
rs1230303971 |
|
NM_022124.6(CDH23):c.2235C>T (p.Ile745=)
|
rs368841307 |
|
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile)
|
rs550384315 |
|
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys)
|
rs200649500 |
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269 |
|
NM_022124.6(CDH23):c.2289+1G>A
|
rs769433759 |
|
NM_022124.6(CDH23):c.2289C>T (p.Thr763=)
|
|
|
NM_022124.6(CDH23):c.2290-13del
|
rs397517316 |
|
NM_022124.6(CDH23):c.2290-3C>T
|
|
|
NM_022124.6(CDH23):c.2310C>T (p.Asp770=)
|
rs886047131 |
|
NM_022124.6(CDH23):c.2316T>C (p.Asn772=)
|
rs3752752 |
|
NM_022124.6(CDH23):c.2337G>A (p.Lys779=)
|
rs111033461 |
|
NM_022124.6(CDH23):c.2353A>C (p.Ile785Leu)
|
rs886047132 |
|
NM_022124.6(CDH23):c.2388T>C (p.Asp796=)
|
rs3752751 |
|
NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn)
|
rs1554857840 |
|
NM_022124.6(CDH23):c.2424G>A (p.Gly808=)
|
rs76601590 |
|
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp)
|
rs368496658 |
|
NM_022124.6(CDH23):c.2568C>G (p.Ile856Met)
|
rs188498736 |
|
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile)
|
rs181275139 |
|
NM_022124.6(CDH23):c.259G>T (p.Val87Leu)
|
rs759917997 |
|
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu)
|
rs199894395 |
|
NM_022124.6(CDH23):c.2792T>C (p.Val931Ala)
|
|
|
NM_022124.6(CDH23):c.2794G>A (p.Gly932Ser)
|
rs373305209 |
|
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly)
|
rs188098974 |
|
NM_022124.6(CDH23):c.2869C>T (p.Arg957Cys)
|
rs532018311 |
|
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys)
|
rs111033458 |
|
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln)
|
rs376560330 |
|
NM_022124.6(CDH23):c.28C>T (p.His10Tyr)
|
|
|
NM_022124.6(CDH23):c.2909C>T (p.Ala970Val)
|
|
|
NM_022124.6(CDH23):c.2915C>T (p.Thr972Met)
|
rs762772276 |
|
NM_022124.6(CDH23):c.2940G>A (p.Thr980=)
|
rs373631099 |
|
NM_022124.6(CDH23):c.2953+10C>T
|
rs781572688 |
|
NM_022124.6(CDH23):c.2954-14G>A
|
rs191534381 |
|
NM_022124.6(CDH23):c.2954-15C>T
|
rs376377077 |
|
NM_022124.6(CDH23):c.2958G>A (p.Leu986=)
|
rs74702249 |
|
NM_022124.6(CDH23):c.2970C>T (p.Asp990=)
|
rs56216952 |
|
NM_022124.6(CDH23):c.3009T>C (p.Ser1003=)
|
rs10823829 |
|
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)
|
rs201053044 |
|
NM_022124.6(CDH23):c.3069C>T (p.Asp1023=)
|
|
|
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp)
|
rs143179070 |
|
NM_022124.6(CDH23):c.3092G>C (p.Ser1031Thr)
|
rs397517320 |
|
NM_022124.6(CDH23):c.3106+11G>A
|
|
|
NM_022124.6(CDH23):c.3109G>A (p.Gly1037Ser)
|
rs886047133 |
|
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr)
|
rs200177873 |
|
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp)
|
rs201536811 |
|
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=)
|
rs201589645 |
|
NM_022124.6(CDH23):c.3213G>A (p.Glu1071=)
|
rs140255091 |
|
NM_022124.6(CDH23):c.321C>G (p.Val107=)
|
rs761122371 |
|
NM_022124.6(CDH23):c.3249G>A (p.Thr1083=)
|
rs79805606 |
|
NM_022124.6(CDH23):c.324C>T (p.Ser108=)
|
rs373668614 |
|
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)
|
rs200632520 |
|
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser)
|
rs41281310 |
|
NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val)
|
rs199510686 |
|
NM_022124.6(CDH23):c.3328A>G (p.Ser1110Gly)
|
rs757508152 |
|
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile)
|
rs397517321 |
|
NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val)
|
rs77821631 |
|
NM_022124.6(CDH23):c.3369+12G>A
|
rs187975106 |
|
NM_022124.6(CDH23):c.3407G>A (p.Arg1136His)
|
|
|
NM_022124.6(CDH23):c.3428dup (p.His1143fs)
|
rs1253419936 |
|
NM_022124.6(CDH23):c.3480G>T (p.Met1160Ile)
|
rs111033519 |
|
NM_022124.6(CDH23):c.3547C>A (p.His1183Asn)
|
|
|
NM_022124.6(CDH23):c.3574G>A (p.Val1192Ile)
|
rs80028391 |
|
NM_022124.6(CDH23):c.3580-12C>T
|
rs73275848 |
|
NM_022124.6(CDH23):c.3580-13C>T
|
rs150894638 |
|
NM_022124.6(CDH23):c.3613G>T (p.Ala1205Ser)
|
rs886047134 |
|
NM_022124.6(CDH23):c.3614C>T (p.Ala1205Val)
|
rs886047135 |
|
NM_022124.6(CDH23):c.3619G>A (p.Val1207Met)
|
rs111033488 |
|
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)
|
rs41281314 |
|
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr)
|
rs41281316 |
|
NM_022124.6(CDH23):c.366T>C (p.Val122=)
|
rs3802720 |
|
NM_022124.6(CDH23):c.3678G>A (p.Thr1226=)
|
|
|
NM_022124.6(CDH23):c.367G>A (p.Gly123Arg)
|
rs727504513 |
|
NM_022124.6(CDH23):c.367G>C (p.Gly123Arg)
|
rs727504513 |
|
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys)
|
rs202204597 |
|
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=)
|
rs56107171 |
|
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly)
|
rs876657754 |
|
NM_022124.6(CDH23):c.3839_3841TGA[1] (p.Met1281del)
|
rs796051860 |
|
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser)
|
rs149073355 |
|
NM_022124.6(CDH23):c.3852G>A (p.Ser1284=)
|
rs372172457 |
|
NM_022124.6(CDH23):c.385G>A (p.Ala129Thr)
|
rs200328570 |
|
NM_022124.6(CDH23):c.386C>T (p.Ala129Val)
|
rs183046743 |
|
NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter)
|
rs121908350 |
|
NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile)
|
rs201610096 |
|
NM_022124.6(CDH23):c.3915C>T (p.Asn1305=)
|
rs568924674 |
|
NM_022124.6(CDH23):c.3929C>A (p.Ala1310Asp)
|
rs483353051 |
|
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp)
|
rs201877610 |
|
NM_022124.6(CDH23):c.3999G>A (p.Val1333=)
|
rs111033453 |
|
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp)
|
rs373276722 |
|
NM_022124.6(CDH23):c.4005C>G (p.Val1335=)
|
rs886047136 |
|
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys)
|
rs41281318 |
|
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp)
|
rs1227065 |
|
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=)
|
rs143136329 |
|
NM_022124.6(CDH23):c.4103C>T (p.Thr1368Met)
|
rs762247872 |
|
NM_022124.6(CDH23):c.4104+4A>T
|
rs483353052 |
|
NM_022124.6(CDH23):c.4147G>A (p.Asp1383Asn)
|
rs752442832 |
|
NM_022124.6(CDH23):c.4179C>T (p.Asp1393=)
|
rs571668370 |
|
NM_022124.6(CDH23):c.4203C>T (p.Thr1401=)
|
rs202166096 |
|
NM_022124.6(CDH23):c.4210-12G>A
|
|
|
NM_022124.6(CDH23):c.4210-2A>G
|
rs557620034 |
|
NM_022124.6(CDH23):c.4210-7C>T
|
rs79271090 |
|
NM_022124.6(CDH23):c.4275G>A (p.Ala1425=)
|
|
|
NM_022124.6(CDH23):c.429+13G>A
|
rs3802719 |
|
NM_022124.6(CDH23):c.429+4G>A
|
rs397517328 |
|
NM_022124.6(CDH23):c.4299T>A (p.Pro1433=)
|
rs12218559 |
|
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter)
|
rs397517329 |
|
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln)
|
rs56181447 |
|
NM_022124.6(CDH23):c.4341T>C (p.Asp1447=)
|
rs12218564 |
|
NM_022124.6(CDH23):c.4346G>A (p.Gly1449Asp)
|
rs544278944 |
|
NM_022124.6(CDH23):c.4356G>A (p.Gly1452=)
|
|
|
NM_022124.6(CDH23):c.4359+11G>A
|
rs12242607 |
|
NM_022124.6(CDH23):c.4390G>A (p.Ala1464Thr)
|
rs756674688 |
|
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val)
|
rs374362883 |
|
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val)
|
rs200635365 |
|
NM_022124.6(CDH23):c.4451C>T (p.Pro1484Leu)
|
rs371145622 |
|
NM_022124.6(CDH23):c.446C>T (p.Thr149Met)
|
rs370947344 |
|
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His)
|
rs121908347 |
|
NM_022124.6(CDH23):c.4509C>T (p.Gly1503=)
|
rs10999978 |
|
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln)
|
|
|
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu)
|
rs554938323 |
|
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu)
|
rs771353319 |
|
NM_022124.6(CDH23):c.4687C>A (p.Leu1563Met)
|
|
|
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr)
|
rs1227051 |
|
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp)
|
|
|
NM_022124.6(CDH23):c.4780C>T (p.Arg1594Cys)
|
rs200664666 |
|
NM_022124.6(CDH23):c.4795T>C (p.Phe1599Leu)
|
rs886047137 |
|
NM_022124.6(CDH23):c.4842G>C (p.Leu1614=)
|
rs368377560 |
|
NM_022124.6(CDH23):c.4846-16805A>C
|
rs3747869 |
|
NM_022124.6(CDH23):c.4846-4260A>G
|
rs3747862 |
|
NM_022124.6(CDH23):c.4857C>T (p.His1619=)
|
rs369817589 |
|
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)
|
rs41281330 |
|
NM_022124.6(CDH23):c.4875G>A (p.Val1625=)
|
rs149664909 |
|
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val)
|
rs370762269 |
|
NM_022124.6(CDH23):c.4897A>G (p.Met1633Val)
|
|
|
NM_022124.6(CDH23):c.4913A>C (p.His1638Pro)
|
rs886047138 |
|
NM_022124.6(CDH23):c.4984C>T (p.Leu1662=)
|
rs886047139 |
|
NM_022124.6(CDH23):c.5002G>A (p.Gly1668Ser)
|
|
|
NM_022124.6(CDH23):c.5022C>T (p.Ile1674=)
|
rs376952695 |
|
NM_022124.6(CDH23):c.5023G>A (p.Val1675Ile)
|
rs17712523 |
|
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr)
|
rs56043301 |
|
NM_022124.6(CDH23):c.5037C>T (p.Ile1679=)
|
rs757049933 |
|
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys)
|
rs111033522 |
|
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr)
|
rs397517334 |
|
NM_022124.6(CDH23):c.5067+15G>A
|
rs367928867 |
|
NM_022124.6(CDH23):c.5100C>T (p.Tyr1700=)
|
rs10762480 |
|
NM_022124.6(CDH23):c.510C>T (p.Ser170=)
|
rs143341423 |
|
NM_022124.6(CDH23):c.5112C>T (p.His1704=)
|
rs774919846 |
|
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile)
|
rs181611778 |
|
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn)
|
rs191021194 |
|
NM_022124.6(CDH23):c.5236C>T (p.Arg1746Trp)
|
rs201763918 |
|
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)
|
rs111033270 |
|
NM_022124.6(CDH23):c.5248G>A (p.Gly1750Arg)
|
rs372822465 |
|
NM_022124.6(CDH23):c.5257G>A (p.Glu1753Lys)
|
rs759706770 |
|
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser)
|
rs114745089 |
|
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter)
|
rs750027965 |
|
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln)
|
rs111033480 |
|
NM_022124.6(CDH23):c.5328C>A (p.Asn1776Lys)
|
rs371522191 |
|
NM_022124.6(CDH23):c.5397G>A (p.Gly1799=)
|
rs749913488 |
|
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp)
|
rs376271562 |
|
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln)
|
rs3802711 |
|
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu)
|
rs74145660 |
|
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=)
|
rs373768157 |
|
NM_022124.6(CDH23):c.5503-10A>G
|
rs2394839 |
|
NM_022124.6(CDH23):c.5519G>A (p.Arg1840Gln)
|
rs375083901 |
|
NM_022124.6(CDH23):c.5523G>A (p.Val1841=)
|
rs369513655 |
|
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=)
|
rs148632119 |
|
NM_022124.6(CDH23):c.5542G>A (p.Asp1848Asn)
|
rs188078418 |
|
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=)
|
rs142131750 |
|
NM_022124.6(CDH23):c.559G>A (p.Val187Ile)
|
|
|
NM_022124.6(CDH23):c.5627G>A (p.Ser1876Asn)
|
|
|
NM_022124.6(CDH23):c.5647A>C (p.Asn1883His)
|
rs747488431 |
|
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys)
|
rs368848049 |
|
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile)
|
rs397517340 |
|
NM_022124.6(CDH23):c.5686G>C (p.Glu1896Gln)
|
|
|
NM_022124.6(CDH23):c.5689C>T (p.Arg1897Trp)
|
|
|
NM_022124.6(CDH23):c.5711C>T (p.Thr1904Met)
|
rs372981760 |
|
NM_022124.6(CDH23):c.5721C>A (p.Ile1907=)
|
|
|
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile)
|
rs368828743 |
|
NM_022124.6(CDH23):c.5727T>C (p.Thr1909=)
|
rs756919394 |
|
NM_022124.6(CDH23):c.574G>C (p.Glu192Gln)
|
rs199514829 |
|
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln)
|
rs115113440 |
|
NM_022124.6(CDH23):c.5821-13C>T
|
rs117317626 |
|
NM_022124.6(CDH23):c.5865C>T (p.Asn1955=)
|
rs762382800 |
|
NM_022124.6(CDH23):c.5871C>G (p.Pro1957=)
|
rs368122233 |
|
NM_022124.6(CDH23):c.588G>A (p.Glu196=)
|
rs886047129 |
|
NM_022124.6(CDH23):c.5931T>C (p.Pro1977=)
|
rs373457993 |
|
NM_022124.6(CDH23):c.5937G>A (p.Thr1979=)
|
rs397517347 |
|
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser)
|
rs555432123 |
|
NM_022124.6(CDH23):c.5970A>G (p.Ala1990=)
|
|
|
NM_022124.6(CDH23):c.5985C>T (p.Tyr1995=)
|
rs370762205 |
|
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser)
|
rs11592462 |
|
NM_022124.6(CDH23):c.6000C>A (p.Tyr2000Ter)
|
rs1564794944 |
|
NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val)
|
rs756459547 |
|
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)
|
rs183431253 |
|
NM_022124.6(CDH23):c.6050-9G>A
|
rs367928692 |
|
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys)
|
rs10466026 |
|
NM_022124.6(CDH23):c.6138C>T (p.Ile2046=)
|
rs568741210 |
|
NM_022124.6(CDH23):c.6197G>A (p.Arg2066Gln)
|
rs201887949 |
|
NM_022124.6(CDH23):c.6249G>A (p.Pro2083=)
|
rs55964031 |
|
NM_022124.6(CDH23):c.6285dup (p.Glu2096Ter)
|
rs1564796487 |
|
NM_022124.6(CDH23):c.6320G>T (p.Arg2107Leu)
|
|
|
NM_022124.6(CDH23):c.6333G>A (p.Gly2111=)
|
rs368155422 |
|
NM_022124.6(CDH23):c.6376C>T (p.Arg2126Cys)
|
rs776269225 |
|
NM_022124.6(CDH23):c.6421A>G (p.Arg2141Gly)
|
rs376414352 |
|
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=)
|
rs142788731 |
|
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)
|
rs111033271 |
|
NM_022124.6(CDH23):c.6446G>A (p.Arg2149Gln)
|
rs377376107 |
|
NM_022124.6(CDH23):c.6492C>T (p.Ile2164=)
|
rs41281332 |
|
NM_022124.6(CDH23):c.6547G>A (p.Val2183Met)
|
rs370794439 |
|
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)
|
rs397517349 |
|
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=)
|
rs186394654 |
|
NM_022124.6(CDH23):c.6649A>G (p.Lys2217Glu)
|
|
|
NM_022124.6(CDH23):c.6687C>T (p.Asp2229=)
|
rs76463072 |
|
NM_022124.6(CDH23):c.67+12C>T
|
rs74144963 |
|
NM_022124.6(CDH23):c.67+8C>T
|
rs186548927 |
|
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=)
|
rs114827737 |
|
NM_022124.6(CDH23):c.6713-8G>A
|
rs369946986 |
|
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile)
|
rs41281334 |
|
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=)
|
rs56013867 |
|
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)
|
rs201434373 |
|
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=)
|
rs146819206 |
|
NM_022124.6(CDH23):c.6990G>T (p.Leu2330=)
|
rs111033495 |
|
NM_022124.6(CDH23):c.699C>T (p.Asp233=)
|
|
|
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu)
|
rs371522435 |
|
NM_022124.6(CDH23):c.7050G>A (p.Ser2350=)
|
|
|
NM_022124.6(CDH23):c.7054+6T>C
|
|
|
NM_022124.6(CDH23):c.7055-15G>A
|
rs371872394 |
|
NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln)
|
rs4747194 |
|
NM_022124.6(CDH23):c.7091A>G (p.Glu2364Gly)
|
rs758727384 |
|
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu)
|
rs4747195 |
|
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)
|
rs121908354 |
|
NM_022124.6(CDH23):c.7225-11C>G
|
|
|
NM_022124.6(CDH23):c.7362+14G>A
|
rs78158757 |
|
NM_022124.6(CDH23):c.7362+5G>A
|
rs727502931 |
|
NM_022124.6(CDH23):c.7382C>T (p.Ser2461Phe)
|
|
|
NM_022124.6(CDH23):c.7461C>T (p.Asn2487=)
|
|
|
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=)
|
rs111033289 |
|
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)
|
rs41281336 |
|
NM_022124.6(CDH23):c.7482+12C>A
|
rs370000472 |
|
NM_022124.6(CDH23):c.7551C>T (p.Ser2517=)
|
rs886047140 |
|
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met)
|
rs376617494 |
|
NM_022124.6(CDH23):c.7572G>A (p.Ala2524=)
|
rs10823849 |
|
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=)
|
rs114819374 |
|
NM_022124.6(CDH23):c.7661-8A>G
|
rs754067214 |
|
NM_022124.6(CDH23):c.7661-9C>T
|
rs577559462 |
|
NM_022124.6(CDH23):c.7720T>C (p.Tyr2574His)
|
rs886047141 |
|
NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=)
|
rs111033483 |
|
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln)
|
rs41281338 |
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174 |
|
NM_022124.6(CDH23):c.7872G>A (p.Glu2624=)
|
rs1292050472 |
|
NM_022124.6(CDH23):c.789G>A (p.Gln263=)
|
|
|
NM_022124.6(CDH23):c.7999G>C (p.Asp2667His)
|
rs200251748 |
|
NM_022124.6(CDH23):c.7C>T (p.Arg3Cys)
|
rs7902757 |
|
NM_022124.6(CDH23):c.8009G>A (p.Ser2670Asn)
|
rs749342092 |
|
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=)
|
rs201733315 |
|
NM_022124.6(CDH23):c.8062A>G (p.Ser2688Gly)
|
|
|
NM_022124.6(CDH23):c.8064+13C>A
|
|
|
NM_022124.6(CDH23):c.8065-5C>A
|
|
|
NM_022124.6(CDH23):c.806G>A (p.Arg269Gln)
|
|
|
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu)
|
rs142857685 |
|
NM_022124.6(CDH23):c.8239del (p.Val2747fs)
|
rs1554877007 |
|
NM_022124.6(CDH23):c.8244C>T (p.Gly2748=)
|
|
|
NM_022124.6(CDH23):c.8290G>A (p.Val2764Met)
|
rs556148352 |
|
NM_022124.6(CDH23):c.8309-3C>T
|
rs371910002 |
|
NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser)
|
rs201076440 |
|
NM_022124.6(CDH23):c.8344G>C (p.Asp2782His)
|
|
|
NM_022124.6(CDH23):c.836A>G (p.Asn279Ser)
|
rs886047130 |
|
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln)
|
rs547034667 |
|
NM_022124.6(CDH23):c.8401T>G (p.Phe2801Val)
|
rs3802707 |
|
NM_022124.6(CDH23):c.8444G>A (p.Arg2815His)
|
rs376835293 |
|
NM_022124.6(CDH23):c.8533C>T (p.Arg2845Cys)
|
rs727505254 |
|
NM_022124.6(CDH23):c.856C>T (p.Leu286=)
|
rs727502918 |
|
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu)
|
rs761210350 |
|
NM_022124.6(CDH23):c.8672T>G (p.Phe2891Cys)
|
|
|
NM_022124.6(CDH23):c.8743C>T (p.Arg2915Cys)
|
rs185818081 |
|
NM_022124.6(CDH23):c.8775C>T (p.Pro2925=)
|
rs766541944 |
|
NM_022124.6(CDH23):c.8823C>T (p.Asn2941=)
|
rs370184182 |
|
NM_022124.6(CDH23):c.8824G>A (p.Asp2942Asn)
|
rs371286324 |
|
NM_022124.6(CDH23):c.8859C>T (p.Asp2953=)
|
rs11000008 |
|
NM_022124.6(CDH23):c.8878G>A (p.Val2960Ile)
|
rs748152139 |
|
NM_022124.6(CDH23):c.8886C>A (p.Asn2962Lys)
|
|
|
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=)
|
rs11000009 |
|
NM_022124.6(CDH23):c.8899C>T (p.Arg2967Cys)
|
rs373602652 |
|
NM_022124.6(CDH23):c.8900G>A (p.Arg2967His)
|
|
|
NM_022124.6(CDH23):c.8907C>T (p.Arg2969=)
|
rs11000010 |
|
NM_022124.6(CDH23):c.8914G>A (p.Glu2972Lys)
|
rs746716712 |
|
NM_022124.6(CDH23):c.8931C>T (p.His2977=)
|
rs781099726 |
|
NM_022124.6(CDH23):c.8979+13C>T
|
rs886047142 |
|
NM_022124.6(CDH23):c.8980-12C>T
|
rs111583276 |
|
NM_022124.6(CDH23):c.8980-14C>A
|
rs45522532 |
|
NM_022124.6(CDH23):c.8986G>A (p.Val2996Met)
|
|
|
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly)
|
rs188966938 |
|
NM_022124.6(CDH23):c.9014C>T (p.Ala3005Val)
|
rs188966938 |
|
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=)
|
rs376497158 |
|
NM_022124.6(CDH23):c.9077+7C>T
|
rs76114420 |
|
NM_022124.6(CDH23):c.9077+8G>A
|
rs11818398 |
|
NM_022124.6(CDH23):c.9108G>A (p.Glu3036=)
|
rs768198017 |
|
NM_022124.6(CDH23):c.9116G>A (p.Arg3039Gln)
|
|
|
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp)
|
rs375907609 |
|
NM_022124.6(CDH23):c.9198+13C>T
|
rs375384238 |
|
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr)
|
rs369395479 |
|
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn)
|
rs368441850 |
|
NM_022124.6(CDH23):c.9319+11G>A
|
rs11000013 |
|
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His)
|
rs200188029 |
|
NM_022124.6(CDH23):c.9337G>C (p.Asp3113His)
|
|
|
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu)
|
rs45583140 |
|
NM_022124.6(CDH23):c.945+1G>A
|
rs727502919 |
|
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=)
|
rs144906721 |
|
NM_022124.6(CDH23):c.9510+13C>T
|
rs183692794 |
|
NM_022124.6(CDH23):c.9510+14G>A
|
|
|
NM_022124.6(CDH23):c.9510+14G>T
|
|
|
NM_022124.6(CDH23):c.9510+19_9510+25del
|
rs149704197 |
|
NM_022124.6(CDH23):c.9511-7T>C
|
rs531195164 |
|
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)
|
rs140884994 |
|
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp)
|
rs121908353 |
|
NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln)
|
rs727502936 |
|
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)
|
rs111033536 |
|
NM_022124.6(CDH23):c.960C>T (p.Asn320=)
|
rs756644736 |
|
NM_022124.6(CDH23):c.9616C>T (p.Arg3206Cys)
|
rs778711089 |
|
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)
|
rs144688588 |
|
NM_022124.6(CDH23):c.9633+14G>A
|
|
|
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp)
|
rs111033457 |
|
NM_022124.6(CDH23):c.968G>A (p.Arg323His)
|
|
|
NM_022124.6(CDH23):c.9694C>T (p.Arg3232Trp)
|
|
|
NM_022124.6(CDH23):c.9739-12G>A
|
rs200638595 |
|
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala)
|
rs140463385 |
|
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys)
|
rs201727938 |
|
NM_022124.6(CDH23):c.9805C>G (p.Arg3269Gly)
|
|
|
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr)
|
rs374545987 |
|
NM_022124.6(CDH23):c.9832G>A (p.Gly3278Arg)
|
|
|
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp)
|
rs562590210 |
|
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=)
|
rs2290021 |
|
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=)
|
rs55717455 |
|
NM_022124.6(CDH23):c.9928C>T (p.Arg3310Cys)
|
rs200124827 |
|
NM_022124.6(CDH23):c.9933G>A (p.Ser3311=)
|
|
|
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=)
|
rs376804660 |
|
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=)
|
rs73277900 |
|
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His)
|
rs148475933 |
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356 |
|
NM_031475.3(ESPN):c.2369_2386del (p.Arg790_Arg795del)
|
rs1557720377 |
|
NM_032119.3:c.16079-1455_c.16196+155del
|
|
|
NM_032119.4(ADGRV1):c.*101T>C
|
|
|
NM_032119.4(ADGRV1):c.*124C>T
|
|
|
NM_032119.4(ADGRV1):c.*17C>T
|
|
|
NM_032119.4(ADGRV1):c.*18G>C
|
|
|
NM_032119.4(ADGRV1):c.*193G>A
|
|
|
NM_032119.4(ADGRV1):c.*259A>G
|
|
|
NM_032119.4(ADGRV1):c.*270C>A
|
|
|
NM_032119.4(ADGRV1):c.*60A>G
|
|
|
NM_032119.4(ADGRV1):c.-44C>T
|
rs192362302 |
|
NM_032119.4(ADGRV1):c.-47G>C
|
rs116110048 |
|
NM_032119.4(ADGRV1):c.-67A>T
|
|
|
NM_032119.4(ADGRV1):c.-98G>A
|
rs7706355 |
|
NM_032119.4(ADGRV1):c.10039T>C (p.Phe3347Leu)
|
rs10067636 |
|
NM_032119.4(ADGRV1):c.10053+9A>G
|
|
|
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=)
|
rs376298949 |
|
NM_032119.4(ADGRV1):c.10228G>A (p.Val3410Met)
|
|
|
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=)
|
rs113938044 |
|
NM_032119.4(ADGRV1):c.10267A>G (p.Ile3423Val)
|
|
|
NM_032119.4(ADGRV1):c.10308A>T (p.Arg3436Ser)
|
|
|
NM_032119.4(ADGRV1):c.10362A>G (p.Thr3454=)
|
|
|
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys)
|
rs2366928 |
|
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg)
|
rs1060499795 |
|
NM_032119.4(ADGRV1):c.10440A>T (p.Ser3480=)
|
|
|
NM_032119.4(ADGRV1):c.10458G>A (p.Trp3486Ter)
|
rs1580905929 |
|
NM_032119.4(ADGRV1):c.10517G>A (p.Arg3506Lys)
|
|
|
NM_032119.4(ADGRV1):c.10527C>T (p.Ser3509=)
|
rs201475256 |
|
NM_032119.4(ADGRV1):c.10550-7C>T
|
rs191228562 |
|
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr)
|
rs41311343 |
|
NM_032119.4(ADGRV1):c.10614A>G (p.Gln3538=)
|
rs182626712 |
|
NM_032119.4(ADGRV1):c.1071G>A (p.Ser357=)
|
rs756805245 |
|
NM_032119.4(ADGRV1):c.10727A>G (p.Tyr3576Cys)
|
rs778286042 |
|
NM_032119.4(ADGRV1):c.10769+9A>G
|
rs116184119 |
|
NM_032119.4(ADGRV1):c.10820T>C (p.Val3607Ala)
|
|
|
NM_032119.4(ADGRV1):c.1086A>G (p.Leu362=)
|
rs186639101 |
|
NM_032119.4(ADGRV1):c.10872A>G (p.Gln3624=)
|
rs17624033 |
|
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro)
|
rs13171868 |
|
NM_032119.4(ADGRV1):c.11031C>T (p.Asn3677=)
|
rs75480336 |
|
NM_032119.4(ADGRV1):c.11122-1G>C
|
rs1561660434 |
|
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala)
|
rs113498662 |
|
NM_032119.4(ADGRV1):c.1131T>G (p.Ser377=)
|
rs200435877 |
|
NM_032119.4(ADGRV1):c.11390C>T (p.Thr3797Ile)
|
|
|
NM_032119.4(ADGRV1):c.11457A>G (p.Gln3819=)
|
|
|
NM_032119.4(ADGRV1):c.11472G>A (p.Leu3824=)
|
rs74327115 |
|
NM_032119.4(ADGRV1):c.11481T>C (p.Asp3827=)
|
rs16869083 |
|
NM_032119.4(ADGRV1):c.11568T>C (p.Val3856=)
|
rs143004930 |
|
NM_032119.4(ADGRV1):c.11579C>T (p.Pro3860Leu)
|
rs759908554 |
|
NM_032119.4(ADGRV1):c.11599G>A (p.Glu3867Lys)
|
rs10062026 |
|
NM_032119.4(ADGRV1):c.11682C>T (p.Pro3894=)
|
rs2438349 |
|
NM_032119.4(ADGRV1):c.11745T>C (p.Phe3915=)
|
rs201453118 |
|
NM_032119.4(ADGRV1):c.11760C>T (p.Gly3920=)
|
|
|
NM_032119.4(ADGRV1):c.11761G>A (p.Ala3921Thr)
|
rs200576500 |
|
NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=)
|
rs144269892 |
|
NM_032119.4(ADGRV1):c.11950A>G (p.Met3984Val)
|
|
|
NM_032119.4(ADGRV1):c.11954T>C (p.Ile3985Thr)
|
|
|
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn)
|
rs201386977 |
|
NM_032119.4(ADGRV1):c.12125del (p.Met4042fs)
|
rs1581041519 |
|
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr)
|
rs375632680 |
|
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe)
|
rs200816323 |
|
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln)
|
rs202190568 |
|
NM_032119.4(ADGRV1):c.12222G>A (p.Trp4074Ter)
|
rs1366388721 |
|
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn)
|
rs199839743 |
|
NM_032119.4(ADGRV1):c.12291G>A (p.Glu4097=)
|
|
|
NM_032119.4(ADGRV1):c.12335T>G (p.Leu4112Trp)
|
|
|
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys)
|
rs138908576 |
|
NM_032119.4(ADGRV1):c.12350G>A (p.Arg4117His)
|
rs202067248 |
|
NM_032119.4(ADGRV1):c.12356C>T (p.Thr4119Ile)
|
|
|
NM_032119.4(ADGRV1):c.1239-8C>G
|
rs869312178 |
|
NM_032119.4(ADGRV1):c.12403+1G>T
|
rs527236132 |
|
NM_032119.4(ADGRV1):c.12425G>A (p.Arg4142Gln)
|
|
|
NM_032119.4(ADGRV1):c.12436C>T (p.Arg4146Ter)
|
rs369793306 |
|
NM_032119.4(ADGRV1):c.12464C>T (p.Pro4155Leu)
|
rs765063091 |
|
NM_032119.4(ADGRV1):c.12476A>C (p.His4159Pro)
|
rs200805176 |
|
NM_032119.4(ADGRV1):c.12479T>A (p.Ile4160Asn)
|
|
|
NM_032119.4(ADGRV1):c.12489G>C (p.Gly4163=)
|
rs727503080 |
|
NM_032119.4(ADGRV1):c.12527+6G>T
|
rs141701016 |
|
NM_032119.4(ADGRV1):c.1252A>G (p.Thr418Ala)
|
|
|
NM_032119.4(ADGRV1):c.12536G>A (p.Arg4179Gln)
|
|
|
NM_032119.4(ADGRV1):c.12542C>T (p.Pro4181Leu)
|
rs200957385 |
|
NM_032119.4(ADGRV1):c.12586C>T (p.Pro4196Ser)
|
rs397517420 |
|
NM_032119.4(ADGRV1):c.12592G>A (p.Val4198Met)
|
rs2460169 |
|
NM_032119.4(ADGRV1):c.12641A>G (p.Gln4214Arg)
|
|
|
NM_032119.4(ADGRV1):c.12704A>G (p.Tyr4235Cys)
|
rs200644004 |
|
NM_032119.4(ADGRV1):c.12786C>T (p.Ser4262=)
|
rs201777525 |
|
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter)
|
rs777309662 |
|
NM_032119.4(ADGRV1):c.12830G>T (p.Arg4277Leu)
|
rs571603222 |
|
NM_032119.4(ADGRV1):c.12927G>A (p.Ala4309=)
|
rs35092519 |
|
NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys)
|
rs182452385 |
|
NM_032119.4(ADGRV1):c.13153A>G (p.Ile4385Val)
|
rs200584854 |
|
NM_032119.4(ADGRV1):c.1317C>T (p.Ser439=)
|
rs368171530 |
|
NM_032119.4(ADGRV1):c.13186G>A (p.Ala4396Thr)
|
|
|
NM_032119.4(ADGRV1):c.13227C>T (p.Phe4409=)
|
rs368497021 |
|
NM_032119.4(ADGRV1):c.13232-1G>A
|
rs764583867 |
|
NM_032119.4(ADGRV1):c.13293T>C (p.Tyr4431=)
|
rs375468899 |
|
NM_032119.4(ADGRV1):c.13305T>G (p.Asp4435Glu)
|
|
|
NM_032119.4(ADGRV1):c.13358A>G (p.His4453Arg)
|
rs200212083 |
|
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg)
|
rs182698253 |
|
NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His)
|
rs375122809 |
|
NM_032119.4(ADGRV1):c.13550T>C (p.Ile4517Thr)
|
|
|
NM_032119.4(ADGRV1):c.13590C>T (p.Pro4530=)
|
rs41311745 |
|
NM_032119.4(ADGRV1):c.13599A>G (p.Thr4533=)
|
rs17554631 |
|
NM_032119.4(ADGRV1):c.13654-5C>T
|
rs367554300 |
|
NM_032119.4(ADGRV1):c.13655dup (p.Asn4553fs)
|
rs765376986 |
|
NM_032119.4(ADGRV1):c.1367T>C (p.Leu456Pro)
|
|
|
NM_032119.4(ADGRV1):c.13718C>T (p.Ala4573Val)
|
|
|
NM_032119.4(ADGRV1):c.13722C>T (p.Asp4574=)
|
|
|
NM_032119.4(ADGRV1):c.137C>T (p.Thr46Ile)
|
|
|
NM_032119.4(ADGRV1):c.13838A>G (p.His4613Arg)
|
|
|
NM_032119.4(ADGRV1):c.13868C>T (p.Ser4623Phe)
|
|
|
NM_032119.4(ADGRV1):c.13897C>T (p.Gln4633Ter)
|
|
|
NM_032119.4(ADGRV1):c.13996A>G (p.Ile4666Val)
|
rs765672841 |
|
NM_032119.4(ADGRV1):c.14005T>C (p.Phe4669Leu)
|
rs199792315 |
|
NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu)
|
rs62000408 |
|
NM_032119.4(ADGRV1):c.14043+7C>T
|
rs563519322 |
|
NM_032119.4(ADGRV1):c.14119G>T (p.Asp4707Tyr)
|
rs1057519383 |
|
NM_032119.4(ADGRV1):c.1419T>G (p.Asp473Glu)
|
|
|
NM_032119.4(ADGRV1):c.14223C>T (p.Ala4741=)
|
rs61999270 |
|
NM_032119.4(ADGRV1):c.14303C>T (p.Ser4768Leu)
|
rs200130204 |
|
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His)
|
rs41304892 |
|
NM_032119.4(ADGRV1):c.14315C>G (p.Ser4772Ter)
|
rs1561740143 |
|
NM_032119.4(ADGRV1):c.14319A>G (p.Ile4773Met)
|
|
|
NM_032119.4(ADGRV1):c.14320C>T (p.Leu4774Phe)
|
|
|
NM_032119.4(ADGRV1):c.14405G>A (p.Arg4802Gln)
|
rs534266547 |
|
NM_032119.4(ADGRV1):c.14427A>G (p.Glu4809=)
|
rs727504605 |
|
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln)
|
rs201747452 |
|
NM_032119.4(ADGRV1):c.14466G>A (p.Val4822=)
|
rs117641264 |
|
NM_032119.4(ADGRV1):c.14467dup (p.Val4823fs)
|
rs1581135405 |
|
NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu)
|
rs79464236 |
|
NM_032119.4(ADGRV1):c.14517G>C (p.Gln4839His)
|
rs1554117973 |
|
NM_032119.4(ADGRV1):c.14654A>G (p.Asn4885Ser)
|
rs61731030 |
|
NM_032119.4(ADGRV1):c.14719G>T (p.Val4907Phe)
|
rs373391623 |
|
NM_032119.4(ADGRV1):c.14901T>C (p.Pro4967=)
|
|
|
NM_032119.4(ADGRV1):c.14905T>C (p.Trp4969Arg)
|
rs7729495 |
|
NM_032119.4(ADGRV1):c.14959G>A (p.Gly4987Arg)
|
rs190988309 |
|
NM_032119.4(ADGRV1):c.14973-2A>G
|
rs371981035 |
|
NM_032119.4(ADGRV1):c.15009C>T (p.Gly5003=)
|
|
|
NM_032119.4(ADGRV1):c.1510-7A>T
|
rs182260529 |
|
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser)
|
rs183633457 |
|
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu)
|
rs61744480 |
|
NM_032119.4(ADGRV1):c.15353G>A (p.Ser5118Asn)
|
rs756275299 |
|
NM_032119.4(ADGRV1):c.15394G>A (p.Gly5132Arg)
|
|
|
NM_032119.4(ADGRV1):c.15401A>G (p.Asp5134Gly)
|
|
|
NM_032119.4(ADGRV1):c.15471C>T (p.Ser5157=)
|
rs146082509 |
|
NM_032119.4(ADGRV1):c.15476C>T (p.Thr5159Ile)
|
|
|
NM_032119.4(ADGRV1):c.15494del (p.Lys5165fs)
|
rs1581196586 |
|
NM_032119.4(ADGRV1):c.15496A>T (p.Thr5166Ser)
|
|
|
NM_032119.4(ADGRV1):c.15497C>T (p.Thr5166Met)
|
|
|
NM_032119.4(ADGRV1):c.15498G>A (p.Thr5166=)
|
|
|
NM_032119.4(ADGRV1):c.15560C>T (p.Ala5187Val)
|
|
|
NM_032119.4(ADGRV1):c.15583C>T (p.Leu5195Phe)
|
|
|
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly)
|
rs202106463 |
|
NM_032119.4(ADGRV1):c.15669G>A (p.Gly5223=)
|
rs61741955 |
|
NM_032119.4(ADGRV1):c.15697A>G (p.Met5233Val)
|
|
|
NM_032119.4(ADGRV1):c.15736C>T (p.Arg5246Ter)
|
rs527236131 |
|
NM_032119.4(ADGRV1):c.1578G>T (p.Gln526His)
|
|
|
NM_032119.4(ADGRV1):c.15830G>A (p.Arg5277His)
|
rs747856236 |
|
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly)
|
rs2438374 |
|
NM_032119.4(ADGRV1):c.1608C>G (p.Tyr536Ter)
|
rs1561416879 |
|
NM_032119.4(ADGRV1):c.16114G>T (p.Glu5372Ter)
|
rs377650415 |
|
NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter)
|
rs1561790371 |
|
NM_032119.4(ADGRV1):c.16164A>G (p.Arg5388=)
|
rs41304884 |
|
NM_032119.4(ADGRV1):c.16197-1G>T
|
rs1561805689 |
|
NM_032119.4(ADGRV1):c.16248C>T (p.Val5416=)
|
rs3763073 |
|
NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met)
|
rs2438378 |
|
NM_032119.4(ADGRV1):c.16308C>T (p.Thr5436=)
|
|
|
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala)
|
rs201890097 |
|
NM_032119.4(ADGRV1):c.16325G>A (p.Gly5442Asp)
|
rs376505416 |
|
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys)
|
rs370906851 |
|
NM_032119.4(ADGRV1):c.16337G>C (p.Cys5446Ser)
|
|
|
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His)
|
rs371947306 |
|
NM_032119.4(ADGRV1):c.16439G>A (p.Ser5480Asn)
|
rs772117132 |
|
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala)
|
rs6889939 |
|
NM_032119.4(ADGRV1):c.16677T>C (p.Phe5559=)
|
|
|
NM_032119.4(ADGRV1):c.16699G>A (p.Val5567Ile)
|
rs201677553 |
|
NM_032119.4(ADGRV1):c.1678A>G (p.Ile560Val)
|
|
|
NM_032119.4(ADGRV1):c.16826A>T (p.Asp5609Val)
|
|
|
NM_032119.4(ADGRV1):c.16949C>G (p.Thr5650Ser)
|
rs61748627 |
|
NM_032119.4(ADGRV1):c.16999A>G (p.Met5667Val)
|
rs201767389 |
|
NM_032119.4(ADGRV1):c.17017A>C (p.Lys5673Gln)
|
|
|
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu)
|
rs41303350 |
|
NM_032119.4(ADGRV1):c.17024C>T (p.Thr5675Ile)
|
|
|
NM_032119.4(ADGRV1):c.17033G>C (p.Gly5678Ala)
|
|
|
NM_032119.4(ADGRV1):c.17062C>T (p.Arg5688Ter)
|
rs747622607 |
|
NM_032119.4(ADGRV1):c.17075A>G (p.Tyr5692Cys)
|
|
|
NM_032119.4(ADGRV1):c.1707A>C (p.Gln569His)
|
|
|
NM_032119.4(ADGRV1):c.170G>A (p.Arg57Lys)
|
|
|
NM_032119.4(ADGRV1):c.17108G>A (p.Arg5703His)
|
rs201073459 |
|
NM_032119.4(ADGRV1):c.17188G>T (p.Gly5730Cys)
|
|
|
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)
|
rs200789563 |
|
NM_032119.4(ADGRV1):c.17200G>T (p.Glu5734Ter)
|
rs1561843914 |
|
NM_032119.4(ADGRV1):c.17204+12T>C
|
|
|
NM_032119.4(ADGRV1):c.17204+4A>G
|
rs376691612 |
|
NM_032119.4(ADGRV1):c.17314C>T (p.Arg5772Ter)
|
rs749956288 |
|
NM_032119.4(ADGRV1):c.17402G>A (p.Ser5801Asn)
|
rs749894314 |
|
NM_032119.4(ADGRV1):c.17455-6T>C
|
|
|
NM_032119.4(ADGRV1):c.17460A>G (p.Leu5820=)
|
|
|
NM_032119.4(ADGRV1):c.17595-4C>T
|
|
|
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile)
|
rs2247870 |
|
NM_032119.4(ADGRV1):c.17667C>G (p.His5889Gln)
|
|
|
NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs)
|
rs757696771 |
|
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile)
|
rs202110635 |
|
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=)
|
rs184127858 |
|
NM_032119.4(ADGRV1):c.17856+11G>A
|
rs187039736 |
|
NM_032119.4(ADGRV1):c.17974-1G>C
|
rs1581711527 |
|
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser)
|
rs200058876 |
|
NM_032119.4(ADGRV1):c.17992G>A (p.Val5998Met)
|
rs557989446 |
|
NM_032119.4(ADGRV1):c.18001A>T (p.Met6001Leu)
|
rs200530343 |
|
NM_032119.4(ADGRV1):c.18094T>C (p.Leu6032=)
|
rs766197164 |
|
NM_032119.4(ADGRV1):c.18131A>G (p.Tyr6044Cys)
|
rs121909763 |
|
NM_032119.4(ADGRV1):c.18153-13A>T
|
|
|
NM_032119.4(ADGRV1):c.18217G>A (p.Val6073Met)
|
|
|
NM_032119.4(ADGRV1):c.18228C>T (p.Phe6076=)
|
rs562067191 |
|
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=)
|
rs137853918 |
|
NM_032119.4(ADGRV1):c.18348C>T (p.Ser6116=)
|
rs774124713 |
|
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys)
|
rs199587998 |
|
NM_032119.4(ADGRV1):c.1839+7G>A
|
rs142011700 |
|
NM_032119.4(ADGRV1):c.18433-13T>C
|
|
|
NM_032119.4(ADGRV1):c.18470A>G (p.Asn6157Ser)
|
rs200111522 |
|
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val)
|
rs77469944 |
|
NM_032119.4(ADGRV1):c.18479G>T (p.Cys6160Phe)
|
|
|
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met)
|
rs199988872 |
|
NM_032119.4(ADGRV1):c.18515A>G (p.Asn6172Ser)
|
|
|
NM_032119.4(ADGRV1):c.18516T>C (p.Asn6172=)
|
|
|
NM_032119.4(ADGRV1):c.18519G>T (p.Gly6173=)
|
rs752223599 |
|
NM_032119.4(ADGRV1):c.1854G>A (p.Glu618=)
|
rs376904160 |
|
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val)
|
rs202064612 |
|
NM_032119.4(ADGRV1):c.18610G>A (p.Gly6204Ser)
|
|
|
NM_032119.4(ADGRV1):c.18625-7T>C
|
rs7726023 |
|
NM_032119.4(ADGRV1):c.18668A>C (p.Gln6223Pro)
|
|
|
NM_032119.4(ADGRV1):c.18711G>A (p.Thr6237=)
|
|
|
NM_032119.4(ADGRV1):c.18732_18750del (p.Gly6243_Tyr6244insTer)
|
rs796051865 |
|
NM_032119.4(ADGRV1):c.18741G>A (p.Gly6247=)
|
rs13158963 |
|
NM_032119.4(ADGRV1):c.18746T>G (p.Leu6249Arg)
|
rs41311625 |
|
NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn)
|
rs201800819 |
|
NM_032119.4(ADGRV1):c.18803-13A>G
|
rs41305902 |
|
NM_032119.4(ADGRV1):c.18803-4G>T
|
rs80335659 |
|
NM_032119.4(ADGRV1):c.18906C>T (p.Ala6302=)
|
rs369528456 |
|
NM_032119.4(ADGRV1):c.199A>G (p.Ile67Val)
|
|
|
NM_032119.4(ADGRV1):c.2001T>C (p.Asp667=)
|
rs9293547 |
|
NM_032119.4(ADGRV1):c.2039A>G (p.Asp680Gly)
|
|
|
NM_032119.4(ADGRV1):c.207+3A>G
|
rs142356935 |
|
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=)
|
rs182990046 |
|
NM_032119.4(ADGRV1):c.2119A>T (p.Ile707Leu)
|
rs200897149 |
|
NM_032119.4(ADGRV1):c.2241-10A>T
|
rs150996234 |
|
NM_032119.4(ADGRV1):c.2258_2270del (p.Gln753fs)
|
rs796051866 |
|
NM_032119.4(ADGRV1):c.2301G>T (p.Leu767Phe)
|
|
|
NM_032119.4(ADGRV1):c.2320G>T (p.Gly774Ter)
|
rs1561441451 |
|
NM_032119.4(ADGRV1):c.2330A>C (p.Glu777Ala)
|
|
|
NM_032119.4(ADGRV1):c.2340T>C (p.Pro780=)
|
|
|
NM_032119.4(ADGRV1):c.2367+8C>T
|
rs2366773 |
|
NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter)
|
rs373780305 |
|
NM_032119.4(ADGRV1):c.2409G>T (p.Gly803=)
|
|
|
NM_032119.4(ADGRV1):c.2412C>T (p.Ser804=)
|
|
|
NM_032119.4(ADGRV1):c.2539G>A (p.Asp847Asn)
|
|
|
NM_032119.4(ADGRV1):c.2553+11T>A
|
rs73181640 |
|
NM_032119.4(ADGRV1):c.2590G>A (p.Gly864Arg)
|
|
|
NM_032119.4(ADGRV1):c.2596C>T (p.Arg866Trp)
|
rs200389929 |
|
NM_032119.4(ADGRV1):c.2636C>T (p.Thr879Met)
|
|
|
NM_032119.4(ADGRV1):c.2666T>C (p.Ile889Thr)
|
|
|
NM_032119.4(ADGRV1):c.267C>T (p.Ala89=)
|
rs759771981 |
|
NM_032119.4(ADGRV1):c.2680del (p.Ser894fs)
|
rs1580567084 |
|
NM_032119.4(ADGRV1):c.2735-10C>A
|
rs78625945 |
|
NM_032119.4(ADGRV1):c.2769T>C (p.Phe923=)
|
|
|
NM_032119.4(ADGRV1):c.2833G>T (p.Gly945Trp)
|
|
|
NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=)
|
rs1060499796 |
|
NM_032119.4(ADGRV1):c.2926G>A (p.Val976Ile)
|
|
|
NM_032119.4(ADGRV1):c.3022+8T>C
|
rs375286987 |
|
NM_032119.4(ADGRV1):c.3022+9G>C
|
|
|
NM_032119.4(ADGRV1):c.3129G>A (p.Gly1043=)
|
|
|
NM_032119.4(ADGRV1):c.3133G>C (p.Ala1045Pro)
|
|
|
NM_032119.4(ADGRV1):c.3133del (p.Ala1045fs)
|
rs1439933768 |
|
NM_032119.4(ADGRV1):c.3141A>G (p.Ala1047=)
|
rs950692 |
|
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr)
|
rs145556097 |
|
NM_032119.4(ADGRV1):c.3180G>A (p.Thr1060=)
|
rs201516498 |
|
NM_032119.4(ADGRV1):c.3185T>C (p.Ile1062Thr)
|
|
|
NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala)
|
rs190922596 |
|
NM_032119.4(ADGRV1):c.3203G>A (p.Arg1068Lys)
|
rs202151375 |
|
NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=)
|
rs183447491 |
|
NM_032119.4(ADGRV1):c.3269T>C (p.Ile1090Thr)
|
rs771410054 |
|
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe)
|
rs2366777 |
|
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=)
|
rs61753944 |
|
NM_032119.4(ADGRV1):c.3289G>A (p.Gly1097Ser)
|
rs148097083 |
|
NM_032119.4(ADGRV1):c.3295A>G (p.Thr1099Ala)
|
rs61754947 |
|
NM_032119.4(ADGRV1):c.3303A>G (p.Val1101=)
|
rs80069610 |
|
NM_032119.4(ADGRV1):c.3338C>A (p.Ala1113Asp)
|
|
|
NM_032119.4(ADGRV1):c.3346G>T (p.Asp1116Tyr)
|
rs761253411 |
|
NM_032119.4(ADGRV1):c.3416+9A>G
|
|
|
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)
|
rs200945405 |
|
NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys)
|
rs147062294 |
|
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys)
|
rs188772875 |
|
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val)
|
rs16868935 |
|
NM_032119.4(ADGRV1):c.3731T>C (p.Leu1244Ser)
|
|
|
NM_032119.4(ADGRV1):c.3775T>A (p.Ser1259Thr)
|
rs376900429 |
|
NM_032119.4(ADGRV1):c.380T>G (p.Leu127Arg)
|
rs41311333 |
|
NM_032119.4(ADGRV1):c.3928A>C (p.Thr1310Pro)
|
|
|
NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln)
|
rs73181648 |
|
NM_032119.4(ADGRV1):c.3969T>C (p.Ser1323=)
|
|
|
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met)
|
rs756414393 |
|
NM_032119.4(ADGRV1):c.3993C>T (p.Thr1331=)
|
|
|
NM_032119.4(ADGRV1):c.3996A>G (p.Gly1332=)
|
|
|
NM_032119.4(ADGRV1):c.4032C>T (p.Tyr1344=)
|
rs376636949 |
|
NM_032119.4(ADGRV1):c.409A>G (p.Ile137Val)
|
|
|
NM_032119.4(ADGRV1):c.4108T>G (p.Phe1370Val)
|
rs1561464218 |
|
NM_032119.4(ADGRV1):c.4118C>T (p.Ala1373Val)
|
|
|
NM_032119.4(ADGRV1):c.4119G>A (p.Ala1373=)
|
rs111033484 |
|
NM_032119.4(ADGRV1):c.4128C>T (p.Asp1376=)
|
rs373730163 |
|
NM_032119.4(ADGRV1):c.4148A>G (p.Tyr1383Cys)
|
rs1580609185 |
|
NM_032119.4(ADGRV1):c.4168A>G (p.Asn1390Asp)
|
rs794727329 |
|
NM_032119.4(ADGRV1):c.4171G>A (p.Glu1391Lys)
|
|
|
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe)
|
rs41305898 |
|
NM_032119.4(ADGRV1):c.4254T>C (p.Tyr1418=)
|
rs149459739 |
|
NM_032119.4(ADGRV1):c.4260A>G (p.Glu1420=)
|
rs61740119 |
|
NM_032119.4(ADGRV1):c.4378+11T>C
|
|
|
NM_032119.4(ADGRV1):c.4391T>G (p.Leu1464Arg)
|
rs1580624630 |
|
NM_032119.4(ADGRV1):c.4487A>G (p.Tyr1496Cys)
|
rs376401006 |
|
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=)
|
rs17543819 |
|
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr)
|
rs201391886 |
|
NM_032119.4(ADGRV1):c.4556G>A (p.Gly1519Glu)
|
|
|
NM_032119.4(ADGRV1):c.463A>G (p.Ile155Val)
|
rs199873924 |
|
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys)
|
rs200955930 |
|
NM_032119.4(ADGRV1):c.4770A>G (p.Ser1590=)
|
|
|
NM_032119.4(ADGRV1):c.4851T>C (p.Thr1617=)
|
|
|
NM_032119.4(ADGRV1):c.4878C>T (p.Asp1626=)
|
|
|
NM_032119.4(ADGRV1):c.4929+6C>A
|
|
|
NM_032119.4(ADGRV1):c.4930-13T>C
|
|
|
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val)
|
rs72782753 |
|
NM_032119.4(ADGRV1):c.4952A>G (p.Asp1651Gly)
|
|
|
NM_032119.4(ADGRV1):c.4977G>A (p.Glu1659=)
|
|
|
NM_032119.4(ADGRV1):c.5207A>G (p.Asp1736Gly)
|
|
|
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=)
|
rs371831553 |
|
NM_032119.4(ADGRV1):c.5265G>A (p.Ala1755=)
|
rs189232336 |
|
NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys)
|
rs200392821 |
|
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu)
|
rs201388114 |
|
NM_032119.4(ADGRV1):c.5304G>A (p.Glu1768=)
|
rs41303346 |
|
NM_032119.4(ADGRV1):c.5313+4A>G
|
rs748976832 |
|
NM_032119.4(ADGRV1):c.5346A>G (p.Gly1782=)
|
rs10067298 |
|
NM_032119.4(ADGRV1):c.5357_5358del (p.Lys1786fs)
|
rs796051867 |
|
NM_032119.4(ADGRV1):c.5522G>A (p.Arg1841His)
|
|
|
NM_032119.4(ADGRV1):c.5525-7C>T
|
rs137853919 |
|
NM_032119.4(ADGRV1):c.5574C>A (p.Asp1858Glu)
|
rs771317730 |
|
NM_032119.4(ADGRV1):c.5576A>G (p.His1859Arg)
|
rs200974394 |
|
NM_032119.4(ADGRV1):c.5657C>G (p.Thr1886Arg)
|
|
|
NM_032119.4(ADGRV1):c.5665G>A (p.Val1889Ile)
|
|
|
NM_032119.4(ADGRV1):c.5674C>T (p.His1892Tyr)
|
|
|
NM_032119.4(ADGRV1):c.5739C>T (p.Leu1913=)
|
|
|
NM_032119.4(ADGRV1):c.5747C>T (p.Thr1916Ile)
|
rs35791889 |
|
NM_032119.4(ADGRV1):c.5776C>A (p.Gln1926Lys)
|
|
|
NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met)
|
rs17544552 |
|
NM_032119.4(ADGRV1):c.5785G>A (p.Ala1929Thr)
|
|
|
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser)
|
rs41311335 |
|
NM_032119.4(ADGRV1):c.5800G>C (p.Glu1934Gln)
|
|
|
NM_032119.4(ADGRV1):c.581C>A (p.Pro194His)
|
rs61745498 |
|
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn)
|
rs41302834 |
|
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile)
|
rs4916684 |
|
NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp)
|
rs41303352 |
|
NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu)
|
rs4916685 |
|
NM_032119.4(ADGRV1):c.596G>T (p.Ser199Ile)
|
rs61745496 |
|
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe)
|
rs16868972 |
|
NM_032119.4(ADGRV1):c.6017G>T (p.Gly2006Val)
|
|
|
NM_032119.4(ADGRV1):c.6062T>C (p.Met2021Thr)
|
|
|
NM_032119.4(ADGRV1):c.6083C>T (p.Pro2028Leu)
|
|
|
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg)
|
rs41308846 |
|
NM_032119.4(ADGRV1):c.6187T>C (p.Leu2063=)
|
rs75019370 |
|
NM_032119.4(ADGRV1):c.6228C>T (p.Ile2076=)
|
rs376325671 |
|
NM_032119.4(ADGRV1):c.6235C>T (p.Leu2079Phe)
|
|
|
NM_032119.4(ADGRV1):c.6289C>T (p.Arg2097Cys)
|
rs16868974 |
|
NM_032119.4(ADGRV1):c.6313A>G (p.Ile2105Val)
|
|
|
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val)
|
rs186999408 |
|
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=)
|
rs190981860 |
|
NM_032119.4(ADGRV1):c.6320A>C (p.Gln2107Pro)
|
rs181475191 |
|
NM_032119.4(ADGRV1):c.6383G>A (p.Arg2128Gln)
|
rs149390094 |
|
NM_032119.4(ADGRV1):c.6469G>A (p.Val2157Met)
|
|
|
NM_032119.4(ADGRV1):c.6491-10G>A
|
|
|
NM_032119.4(ADGRV1):c.6526T>A (p.Leu2176Met)
|
|
|
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val)
|
rs200512504 |
|
NM_032119.4(ADGRV1):c.6599C>G (p.Ser2200Cys)
|
|
|
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala)
|
rs200055351 |
|
NM_032119.4(ADGRV1):c.6695A>G (p.Tyr2232Cys)
|
rs10037067 |
|
NM_032119.4(ADGRV1):c.6705T>G (p.Phe2235Leu)
|
|
|
NM_032119.4(ADGRV1):c.6772A>G (p.Ile2258Val)
|
|
|
NM_032119.4(ADGRV1):c.6795C>T (p.Leu2265=)
|
rs760814922 |
|
NM_032119.4(ADGRV1):c.6849C>T (p.Gly2283=)
|
|
|
NM_032119.4(ADGRV1):c.686A>G (p.Asp229Gly)
|
|
|
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)
|
rs121909762 |
|
NM_032119.4(ADGRV1):c.6951+13G>A
|
rs143356203 |
|
NM_032119.4(ADGRV1):c.6952-10G>A
|
rs10040165 |
|
NM_032119.4(ADGRV1):c.6952G>T (p.Val2318Phe)
|
rs1338945655 |
|
NM_032119.4(ADGRV1):c.6962_6963del (p.Val2321fs)
|
rs1276890742 |
|
NM_032119.4(ADGRV1):c.6975T>C (p.Asp2325=)
|
rs202030777 |
|
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe)
|
rs193030567 |
|
NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter)
|
rs527236133 |
|
NM_032119.4(ADGRV1):c.7034A>G (p.Asn2345Ser)
|
rs2366926 |
|
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His)
|
rs111033470 |
|
NM_032119.4(ADGRV1):c.709A>C (p.Lys237Gln)
|
|
|
NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=)
|
rs111033452 |
|
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=)
|
rs111033429 |
|
NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=)
|
rs16876822 |
|
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys)
|
rs111033430 |
|
NM_032119.4(ADGRV1):c.7264C>T (p.Leu2422Phe)
|
|
|
NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=)
|
rs148932387 |
|
NM_032119.4(ADGRV1):c.7293C>T (p.Ala2431=)
|
rs77791584 |
|
NM_032119.4(ADGRV1):c.7334A>G (p.Lys2445Arg)
|
|
|
NM_032119.4(ADGRV1):c.7464G>C (p.Arg2488Ser)
|
|
|
NM_032119.4(ADGRV1):c.7468G>A (p.Ala2490Thr)
|
rs143632883 |
|
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys)
|
rs41303344 |
|
NM_032119.4(ADGRV1):c.7527A>G (p.Gln2509=)
|
|
|
NM_032119.4(ADGRV1):c.7571T>A (p.Val2524Glu)
|
rs191036195 |
|
NM_032119.4(ADGRV1):c.7576A>G (p.Ile2526Val)
|
rs75191159 |
|
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser)
|
rs201733037 |
|
NM_032119.4(ADGRV1):c.7606G>T (p.Glu2536Ter)
|
rs886039893 |
|
NM_032119.4(ADGRV1):c.7684C>A (p.Gln2562Lys)
|
|
|
NM_032119.4(ADGRV1):c.7702G>A (p.Val2568Ile)
|
|
|
NM_032119.4(ADGRV1):c.7751A>G (p.Asn2584Ser)
|
rs1878878 |
|
NM_032119.4(ADGRV1):c.7754T>C (p.Ile2585Thr)
|
|
|
NM_032119.4(ADGRV1):c.777T>C (p.Asn259=)
|
rs775845081 |
|
NM_032119.4(ADGRV1):c.7813T>G (p.Leu2605Val)
|
rs79915053 |
|
NM_032119.4(ADGRV1):c.7866C>T (p.Val2622=)
|
|
|
NM_032119.4(ADGRV1):c.7867G>A (p.Glu2623Lys)
|
rs146526977 |
|
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys)
|
rs201583659 |
|
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His)
|
rs201214794 |
|
NM_032119.4(ADGRV1):c.7885G>T (p.Gly2629Ter)
|
rs1561543496 |
|
NM_032119.4(ADGRV1):c.7892C>G (p.Ala2631Gly)
|
|
|
NM_032119.4(ADGRV1):c.7893T>C (p.Ala2631=)
|
|
|
NM_032119.4(ADGRV1):c.7945+6C>T
|
rs139278305 |
|
NM_032119.4(ADGRV1):c.8034T>G (p.Thr2678=)
|
|
|
NM_032119.4(ADGRV1):c.8068A>G (p.Thr2690Ala)
|
|
|
NM_032119.4(ADGRV1):c.8091C>T (p.Ala2697=)
|
|
|
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe)
|
rs376318779 |
|
NM_032119.4(ADGRV1):c.8156-4G>A
|
|
|
NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val)
|
rs201963060 |
|
NM_032119.4(ADGRV1):c.8169A>G (p.Gln2723=)
|
|
|
NM_032119.4(ADGRV1):c.8287-1G>C
|
|
|
NM_032119.4(ADGRV1):c.8291C>T (p.Ser2764Leu)
|
rs16869016 |
|
NM_032119.4(ADGRV1):c.8369A>G (p.Tyr2790Cys)
|
rs751129081 |
|
NM_032119.4(ADGRV1):c.8386+12T>C
|
|
|
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr)
|
rs111033530 |
|
NM_032119.4(ADGRV1):c.8488C>G (p.Leu2830Val)
|
|
|
NM_032119.4(ADGRV1):c.8538T>G (p.Leu2846=)
|
rs6880570 |
|
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly)
|
rs200197273 |
|
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val)
|
rs41308297 |
|
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala)
|
rs111033517 |
|
NM_032119.4(ADGRV1):c.8668A>G (p.Ile2890Val)
|
|
|
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp)
|
rs201586455 |
|
NM_032119.4(ADGRV1):c.8713_8716dup (p.Ile2906fs)
|
rs796051863 |
|
NM_032119.4(ADGRV1):c.8769T>C (p.Asn2923=)
|
|
|
NM_032119.4(ADGRV1):c.8778C>T (p.Tyr2926=)
|
|
|
NM_032119.4(ADGRV1):c.8790del (p.Met2931fs)
|
rs796051864 |
|
NM_032119.4(ADGRV1):c.8807C>G (p.Ser2936Ter)
|
rs1554090072 |
|
NM_032119.4(ADGRV1):c.8824+10G>A
|
rs180693049 |
|
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln)
|
rs73175207 |
|
NM_032119.4(ADGRV1):c.9143C>G (p.Thr3048Arg)
|
|
|
NM_032119.4(ADGRV1):c.9181A>G (p.Ile3061Val)
|
rs759038879 |
|
NM_032119.4(ADGRV1):c.9182T>G (p.Ile3061Arg)
|
|
|
NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr)
|
rs1580845586 |
|
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=)
|
rs56329646 |
|
NM_032119.4(ADGRV1):c.9280G>A (p.Val3094Ile)
|
rs13157270 |
|
NM_032119.4(ADGRV1):c.9314G>A (p.Arg3105Gln)
|
|
|
NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=)
|
rs200412477 |
|
NM_032119.4(ADGRV1):c.940G>A (p.Ala314Thr)
|
|
|
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)
|
rs200792658 |
|
NM_032119.4(ADGRV1):c.9447+6G>A
|
rs201481219 |
|
NM_032119.4(ADGRV1):c.9448-14G>A
|
|
|
NM_032119.4(ADGRV1):c.9558C>T (p.Thr3186=)
|
rs201089046 |
|
NM_032119.4(ADGRV1):c.9607T>A (p.Ser3203Thr)
|
rs116480183 |
|
NM_032119.4(ADGRV1):c.961G>T (p.Asp321Tyr)
|
|
|
NM_032119.4(ADGRV1):c.9624-4T>A
|
|
|
NM_032119.4(ADGRV1):c.9635T>C (p.Ile3212Thr)
|
rs199833843 |
|
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys)
|
rs199499672 |
|
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val)
|
rs114137750 |
|
NM_032119.4(ADGRV1):c.9679C>T (p.Arg3227Ter)
|
rs267600727 |
|
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp)
|
rs16869032 |
|
NM_032119.4(ADGRV1):c.9748+2T>C
|
rs1580864592 |
|
NM_032119.4(ADGRV1):c.9763G>A (p.Val3255Met)
|
|
|
NM_032119.4(ADGRV1):c.9765G>A (p.Val3255=)
|
|
|
NM_032119.4(ADGRV1):c.9771C>T (p.Ser3257=)
|
rs16869039 |
|
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=)
|
rs16869042 |
|
NM_032119.4(ADGRV1):c.9992A>G (p.Asn3331Ser)
|
|
|
NM_033056.4(PCDH15):c.*109A>G
|
|
|
NM_033056.4(PCDH15):c.*127dup
|
rs548021914 |
|
NM_033056.4(PCDH15):c.*135T>C
|
rs886047058 |
|
NM_033056.4(PCDH15):c.*147_*150dup
|
rs886047057 |
|
NM_033056.4(PCDH15):c.*268_*269del
|
rs886047056 |
|
NM_033056.4(PCDH15):c.*366G>A
|
rs187860910 |
|
NM_033056.4(PCDH15):c.*389G>A
|
rs886047055 |
|
NM_033056.4(PCDH15):c.*414G>C
|
rs16937780 |
|
NM_033056.4(PCDH15):c.*421C>T
|
rs74134797 |
|
NM_033056.4(PCDH15):c.*459A>G
|
|
|
NM_033056.4(PCDH15):c.*486G>A
|
rs549184328 |
|
NM_033056.4(PCDH15):c.*510T>C
|
|
|
NM_033056.4(PCDH15):c.*512G>C
|
rs571779869 |
|
NM_033056.4(PCDH15):c.*558T>A
|
rs886047054 |
|
NM_033056.4(PCDH15):c.*600C>A
|
|
|
NM_033056.4(PCDH15):c.*64A>T
|
rs188426462 |
|
NM_033056.4(PCDH15):c.*73C>T
|
|
|
NM_033056.4(PCDH15):c.*93T>C
|
|
|
NM_033056.4(PCDH15):c.-126G>A
|
rs551107079 |
|
NM_033056.4(PCDH15):c.-155G>C
|
rs886047069 |
|
NM_033056.4(PCDH15):c.-180C>T
|
rs375866561 |
|
NM_033056.4(PCDH15):c.-288T>C
|
rs566733932 |
|
NM_033056.4(PCDH15):c.-5A>G
|
rs142016527 |
|
NM_033056.4(PCDH15):c.-5_-3AGA[1] (p.Met1del)
|
rs1555135527 |
|
NM_033056.4(PCDH15):c.1006C>T (p.Arg336Ter)
|
rs370261904 |
|
NM_033056.4(PCDH15):c.1039C>T (p.Leu347Phe)
|
rs111033436 |
|
NM_033056.4(PCDH15):c.1088del (p.Leu363fs)
|
rs199469706 |
|
NM_033056.4(PCDH15):c.1098+14A>G
|
rs764625426 |
|
NM_033056.4(PCDH15):c.1138G>A (p.Gly380Ser)
|
rs10825269 |
|
NM_033056.4(PCDH15):c.1167del (p.Asn389fs)
|
rs1591095476 |
|
NM_033056.4(PCDH15):c.1169A>G (p.Asn390Ser)
|
rs397517450 |
|
NM_033056.4(PCDH15):c.1172A>G (p.Gln391Arg)
|
rs758680936 |
|
NM_033056.4(PCDH15):c.1179A>G (p.Pro393=)
|
|
|
NM_033056.4(PCDH15):c.1205G>C (p.Gly402Ala)
|
rs145017164 |
|
NM_033056.4(PCDH15):c.1220C>T (p.Ser407Phe)
|
rs886047067 |
|
NM_033056.4(PCDH15):c.1256A>G (p.Asn419Ser)
|
rs143827620 |
|
NM_033056.4(PCDH15):c.1263T>C (p.Thr421=)
|
rs7921598 |
|
NM_033056.4(PCDH15):c.1304A>C (p.Asp435Ala)
|
rs4935502 |
|
NM_033056.4(PCDH15):c.1305+1G>A
|
rs758947077 |
|
NM_033056.4(PCDH15):c.1305+1G>C
|
rs758947077 |
|
NM_033056.4(PCDH15):c.1305+1del
|
rs1554833699 |
|
NM_033056.4(PCDH15):c.1339G>A (p.Asp447Asn)
|
rs150509146 |
|
NM_033056.4(PCDH15):c.1360G>A (p.Val454Ile)
|
rs61735473 |
|
NM_033056.4(PCDH15):c.1362C>T (p.Val454=)
|
rs61735479 |
|
NM_033056.4(PCDH15):c.1373G>A (p.Gly458Asp)
|
|
|
NM_033056.4(PCDH15):c.139del (p.Asp47fs)
|
rs1555032952 |
|
NM_033056.4(PCDH15):c.1440+11T>G
|
|
|
NM_033056.4(PCDH15):c.1456G>A (p.Gly486Ser)
|
rs1196401374 |
|
NM_033056.4(PCDH15):c.145G>T (p.Glu49Ter)
|
rs1168400018 |
|
NM_033056.4(PCDH15):c.146A>G (p.Glu49Gly)
|
|
|
NM_033056.4(PCDH15):c.157+1G>C
|
rs1057516770 |
|
NM_033056.4(PCDH15):c.157+3A>G
|
rs41274636 |
|
NM_033056.4(PCDH15):c.157+59097T>C
|
rs75443986 |
|
NM_033056.4(PCDH15):c.158-16930T>C
|
rs207470941 |
|
NM_033056.4(PCDH15):c.158-1G>A
|
rs876657418 |
|
NM_033056.4(PCDH15):c.158-2A>T
|
rs1304228309 |
|
NM_033056.4(PCDH15):c.1590+15A>G
|
rs565203752 |
|
NM_033056.4(PCDH15):c.1591C>T (p.Leu531Phe)
|
rs750009006 |
|
NM_033056.4(PCDH15):c.1627del (p.Glu543fs)
|
rs1057516892 |
|
NM_033056.4(PCDH15):c.1631T>G (p.Ile544Ser)
|
rs886047066 |
|
NM_033056.4(PCDH15):c.1635_1636AT[1] (p.Thr545_Tyr546insTer)
|
rs1554816541 |
|
NM_033056.4(PCDH15):c.1643T>G (p.Ile548Ser)
|
|
|
NM_033056.4(PCDH15):c.1649T>G (p.Val550Gly)
|
rs61735482 |
|
NM_033056.4(PCDH15):c.16del (p.Tyr6fs)
|
rs397517451 |
|
NM_033056.4(PCDH15):c.1702G>A (p.Ala568Thr)
|
rs61730754 |
|
NM_033056.4(PCDH15):c.1737C>G (p.Tyr579Ter)
|
rs1057517251 |
|
NM_033056.4(PCDH15):c.1757C>T (p.Ala586Val)
|
|
|
NM_033056.4(PCDH15):c.1770_1771del (p.Pro591fs)
|
rs1057517150 |
|
NM_033056.4(PCDH15):c.1780C>A (p.Arg594=)
|
|
|
NM_033056.4(PCDH15):c.1785-2A>C
|
rs1057516474 |
|
NM_033056.4(PCDH15):c.1806T>G (p.Tyr602Ter)
|
rs1057517443 |
|
NM_033056.4(PCDH15):c.1808T>C (p.Ile603Thr)
|
|
|
NM_033056.4(PCDH15):c.1830_1833del (p.Asn610fs)
|
rs1057517261 |
|
NM_033056.4(PCDH15):c.1863T>G (p.Tyr621Ter)
|
rs1590691343 |
|
NM_033056.4(PCDH15):c.1900G>A (p.Val634Ile)
|
rs146199636 |
|
NM_033056.4(PCDH15):c.1910A>G (p.Asn637Ser)
|
rs61731389 |
|
NM_033056.4(PCDH15):c.1915C>T (p.Gln639Ter)
|
rs138983888 |
|
NM_033056.4(PCDH15):c.1917+2T>C
|
rs1554806149 |
|
NM_033056.4(PCDH15):c.1924G>A (p.Asp642Asn)
|
rs1455035148 |
|
NM_033056.4(PCDH15):c.1927C>T (p.Arg643Ter)
|
rs727504301 |
|
NM_033056.4(PCDH15):c.1934G>T (p.Gly645Val)
|
rs763226433 |
|
NM_033056.4(PCDH15):c.1940C>G (p.Ser647Ter)
|
rs137853004 |
|
NM_033056.4(PCDH15):c.1997+1G>T
|
rs763797356 |
|
NM_033056.4(PCDH15):c.1997C>T (p.Thr666Ile)
|
|
|
NM_033056.4(PCDH15):c.1998-2A>G
|
rs397517452 |
|
NM_033056.4(PCDH15):c.1A>G (p.Met1Val)
|
rs1040514625 |
|
NM_033056.4(PCDH15):c.2047C>T (p.Arg683Cys)
|
rs573043647 |
|
NM_033056.4(PCDH15):c.2052C>A (p.Tyr684Ter)
|
rs1554956088 |
|
NM_033056.4(PCDH15):c.2091+2T>C
|
rs1554956023 |
|
NM_033056.4(PCDH15):c.2102C>T (p.Ala701Val)
|
rs199537178 |
|
NM_033056.4(PCDH15):c.2138A>G (p.Asn713Ser)
|
rs190878515 |
|
NM_033056.4(PCDH15):c.2220+9A>G
|
rs886047065 |
|
NM_033056.4(PCDH15):c.2290C>T (p.Arg764Cys)
|
rs192813057 |
|
NM_033056.4(PCDH15):c.2361_2363TGT[2] (p.Val790del)
|
rs483352837 |
|
NM_033056.4(PCDH15):c.2419dup (p.Ile807fs)
|
rs781148814 |
|
NM_033056.4(PCDH15):c.2435T>C (p.Ile812Thr)
|
rs61731363 |
|
NM_033056.4(PCDH15):c.243G>A (p.Val81=)
|
rs151119732 |
|
NM_033056.4(PCDH15):c.2445C>T (p.Asn815=)
|
rs768200772 |
|
NM_033056.4(PCDH15):c.2487dup (p.Glu830fs)
|
rs757027638 |
|
NM_033056.4(PCDH15):c.2539G>A (p.Asp847Asn)
|
rs751941551 |
|
NM_033056.4(PCDH15):c.2563C>T (p.Arg855Trp)
|
rs138010738 |
|
NM_033056.4(PCDH15):c.2581G>A (p.Val861Met)
|
rs142512524 |
|
NM_033056.4(PCDH15):c.2624C>A (p.Ser875Ter)
|
rs201328768 |
|
NM_033056.4(PCDH15):c.2625G>A (p.Ser875=)
|
rs111033516 |
|
NM_033056.4(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer)
|
rs1589950125 |
|
NM_033056.4(PCDH15):c.2685G>C (p.Leu895=)
|
|
|
NM_033056.4(PCDH15):c.2709A>G (p.Gly903=)
|
rs886047064 |
|
NM_033056.4(PCDH15):c.2717C>T (p.Pro906Leu)
|
rs374205826 |
|
NM_033056.4(PCDH15):c.2723G>A (p.Gly908Asp)
|
|
|
NM_033056.4(PCDH15):c.2728G>T (p.Ala910Ser)
|
rs139175351 |
|
NM_033056.4(PCDH15):c.274C>T (p.Gln92Ter)
|
rs143842048 |
|
NM_033056.4(PCDH15):c.2751+2T>C
|
rs754543131 |
|
NM_033056.4(PCDH15):c.2768C>T (p.Pro923Leu)
|
rs191577774 |
|
NM_033056.4(PCDH15):c.2785C>T (p.Arg929Ter)
|
rs1057516342 |
|
NM_033056.4(PCDH15):c.2786G>A (p.Arg929Gln)
|
rs2135720 |
|
NM_033056.4(PCDH15):c.2807C>T (p.Ala936Val)
|
rs369029215 |
|
NM_033056.4(PCDH15):c.2823G>T (p.Lys941Asn)
|
rs773599066 |
|
NM_033056.4(PCDH15):c.2825del (p.Gly942fs)
|
rs758685587 |
|
NM_033056.4(PCDH15):c.2869-1G>T
|
rs1554883705 |
|
NM_033056.4(PCDH15):c.2884C>T (p.Arg962Cys)
|
rs201816080 |
|
NM_033056.4(PCDH15):c.2885G>A (p.Arg962His)
|
rs45483395 |
|
NM_033056.4(PCDH15):c.2885G>T (p.Arg962Leu)
|
rs45483395 |
|
NM_033056.4(PCDH15):c.2971C>T (p.Arg991Ter)
|
rs754391973 |
|
NM_033056.4(PCDH15):c.2992C>G (p.Pro998Ala)
|
rs397517454 |
|
NM_033056.4(PCDH15):c.299del (p.Gly100fs)
|
rs1554940316 |
|
NM_033056.4(PCDH15):c.29del (p.Cys10fs)
|
rs1555135419 |
|
NM_033056.4(PCDH15):c.3018G>T (p.Val1006=)
|
rs41307518 |
|
NM_033056.4(PCDH15):c.3023del (p.Ala1008fs)
|
rs1057517284 |
|
NM_033056.4(PCDH15):c.3082del (p.His1028fs)
|
rs1057517325 |
|
NM_033056.4(PCDH15):c.3122+2T>A
|
rs1554882546 |
|
NM_033056.4(PCDH15):c.3123-1G>A
|
rs1554873550 |
|
NM_033056.4(PCDH15):c.3195A>G (p.Gln1065=)
|
rs776720353 |
|
NM_033056.4(PCDH15):c.3211del (p.Ile1071fs)
|
rs1057516974 |
|
NM_033056.4(PCDH15):c.3233-2A>G
|
rs1554872194 |
|
NM_033056.4(PCDH15):c.323del (p.Pro108fs)
|
rs1554934073 |
|
NM_033056.4(PCDH15):c.3313C>A (p.Leu1105Ile)
|
|
|
NM_033056.4(PCDH15):c.3316C>T (p.Arg1106Ter)
|
rs202033121 |
|
NM_033056.4(PCDH15):c.333dup (p.His112fs)
|
rs1057516992 |
|
NM_033056.4(PCDH15):c.3341del (p.Val1114fs)
|
rs1057516656 |
|
NM_033056.4(PCDH15):c.3374-1G>T
|
rs1554852472 |
|
NM_033056.4(PCDH15):c.3374-4C>T
|
rs111739360 |
|
NM_033056.4(PCDH15):c.3416_3418ATC[1] (p.His1140del)
|
rs1554852410 |
|
NM_033056.4(PCDH15):c.3441dup (p.Phe1148fs)
|
rs770832663 |
|
NM_033056.4(PCDH15):c.3450C>A (p.Ile1150=)
|
rs146374856 |
|
NM_033056.4(PCDH15):c.3451G>A (p.Gly1151Arg)
|
rs149478475 |
|
NM_033056.4(PCDH15):c.3456T>C (p.Gly1152=)
|
rs202091131 |
|
NM_033056.4(PCDH15):c.3501+13A>G
|
rs727503365 |
|
NM_033056.4(PCDH15):c.3501+1G>T
|
rs1402893508 |
|
NM_033056.4(PCDH15):c.3501+7G>T
|
rs756402556 |
|
NM_033056.4(PCDH15):c.3502-10del
|
rs750835578 |
|
NM_033056.4(PCDH15):c.3502-2A>G
|
rs1554836566 |
|
NM_033056.4(PCDH15):c.3502-8C>T
|
rs184144118 |
|
NM_033056.4(PCDH15):c.3532G>A (p.Val1178Ile)
|
rs147835286 |
|
NM_033056.4(PCDH15):c.3555A>G (p.Ile1185Met)
|
|
|
NM_033056.4(PCDH15):c.358_359del (p.Cys120fs)
|
rs1057517264 |
|
NM_033056.4(PCDH15):c.3653del (p.Phe1218fs)
|
rs1057516268 |
|
NM_033056.4(PCDH15):c.3717+1G>A
|
rs748706627 |
|
NM_033056.4(PCDH15):c.3717+2dup
|
rs1248401224 |
|
NM_033056.4(PCDH15):c.3724G>A (p.Val1242Met)
|
rs201137087 |
|
NM_033056.4(PCDH15):c.3731_3734del (p.Asn1244fs)
|
rs1554833314 |
|
NM_033056.4(PCDH15):c.3782A>C (p.Glu1261Ala)
|
rs201106387 |
|
NM_033056.4(PCDH15):c.3791_3794del (p.Ile1264fs)
|
rs1554833249 |
|
NM_033056.4(PCDH15):c.3792_3798dup (p.Leu1267fs)
|
rs1554833242 |
|
NM_033056.4(PCDH15):c.3795A>T (p.Glu1265Asp)
|
rs111033496 |
|
NM_033056.4(PCDH15):c.3806+1G>C
|
rs1554833227 |
|
NM_033056.4(PCDH15):c.3806+2T>C
|
rs756692340 |
|
NM_033056.4(PCDH15):c.3807-2A>G
|
rs1328440878 |
|
NM_033056.4(PCDH15):c.3807-6T>G
|
rs727504791 |
|
NM_033056.4(PCDH15):c.3817C>A (p.Arg1273Ser)
|
rs111033363 |
|
NM_033056.4(PCDH15):c.3857T>A (p.Val1286Glu)
|
rs375292203 |
|
NM_033056.4(PCDH15):c.3862T>C (p.Ser1288Pro)
|
rs1554827269 |
|
NM_033056.4(PCDH15):c.3885_3889dup (p.Ala1297fs)
|
rs1057516780 |
|
NM_033056.4(PCDH15):c.394dup (p.Glu132fs)
|
rs397515566 |
|
NM_033056.4(PCDH15):c.3983+12T>C
|
rs149867749 |
|
NM_033056.4(PCDH15):c.3983+1G>T
|
rs758921360 |
|
NM_033056.4(PCDH15):c.3983+2dup
|
rs1554827124 |
|
NM_033056.4(PCDH15):c.3984-1G>C
|
rs1057520709 |
|
NM_033056.4(PCDH15):c.3984-2A>G
|
rs1554824185 |
|
NM_033056.4(PCDH15):c.4006_4008dup (p.Asp1336dup)
|
rs1554824158 |
|
NM_033056.4(PCDH15):c.400C>A (p.Arg134=)
|
|
|
NM_033056.4(PCDH15):c.400C>T (p.Arg134Ter)
|
rs137853003 |
|
NM_033056.4(PCDH15):c.4024C>A (p.Gln1342Lys)
|
rs61731387 |
|
NM_033056.4(PCDH15):c.4080G>A (p.Val1360=)
|
rs111033499 |
|
NM_033056.4(PCDH15):c.4103A>G (p.Glu1368Gly)
|
rs111033449 |
|
NM_033056.4(PCDH15):c.4114_4119del (p.Tyr1372_Thr1373del)
|
rs1394411772 |
|
NM_033056.4(PCDH15):c.4118C>T (p.Thr1373Ile)
|
rs756490783 |
|
NM_033056.4(PCDH15):c.4127C>A (p.Ala1376Asp)
|
rs752371584 |
|
NM_033056.4(PCDH15):c.4147del (p.Ile1383fs)
|
rs1554824058 |
|
NM_033056.4(PCDH15):c.416_444del (p.Asp139fs)
|
rs1057517182 |
|
NM_033056.4(PCDH15):c.4197_4198insGTAG (p.Arg1400fs)
|
rs1057516821 |
|
NM_033056.4(PCDH15):c.4202+5G>A
|
rs886047063 |
|
NM_033056.4(PCDH15):c.4211+1G>A
|
rs1554823229 |
|
NM_033056.4(PCDH15):c.4211+1del
|
rs1554823231 |
|
NM_033056.4(PCDH15):c.4211+2T>G
|
rs753832779 |
|
NM_033056.4(PCDH15):c.4211+2dup
|
rs1057517419 |
|
NM_033056.4(PCDH15):c.4214G>A (p.Arg1405His)
|
rs143538460 |
|
NM_033056.4(PCDH15):c.4227T>A (p.Cys1409Ter)
|
rs1057516472 |
|
NM_033056.4(PCDH15):c.4231_4234dup (p.Thr1412fs)
|
rs1554822897 |
|
NM_033056.4(PCDH15):c.4237_4238del (p.Ala1413fs)
|
rs1554822891 |
|
NM_033056.4(PCDH15):c.4247_4258del (p.Gln1416_Leu1419del)
|
rs1296979751 |
|
NM_033056.4(PCDH15):c.4260C>T (p.Pro1420=)
|
rs775658931 |
|
NM_033056.4(PCDH15):c.4272A>G (p.Pro1424=)
|
rs759109238 |
|
NM_033056.4(PCDH15):c.4275A>C (p.Ala1425=)
|
|
|
NM_033056.4(PCDH15):c.4305_4310dup (p.Pro1442_Pro1443dup)
|
rs1327987212 |
|
NM_033056.4(PCDH15):c.4308_4310GCC[2] (p.Pro1441_Pro1443del)
|
rs559130985 |
|
NM_033056.4(PCDH15):c.4308_4310GCC[7] (p.Pro1442_Pro1443dup)
|
rs559130985 |
|
NM_033056.4(PCDH15):c.4308_4310GCC[9] (p.Pro1440_Pro1443dup)
|
rs559130985 |
|
NM_033056.4(PCDH15):c.4313del (p.Pro1438fs)
|
rs1057516351 |
|
NM_033056.4(PCDH15):c.4317_4328dup (p.Pro1440_Pro1443dup)
|
rs1554822754 |
|
NM_033056.4(PCDH15):c.4334C>G (p.Ala1445Gly)
|
rs146745502 |
|
NM_033056.4(PCDH15):c.4367+1G>A
|
rs1057516613 |
|
NM_033056.4(PCDH15):c.4367+2T>C
|
rs1554822703 |
|
NM_033056.4(PCDH15):c.4368-14TCTTT[3]
|
rs1452730552 |
|
NM_033056.4(PCDH15):c.4368-15_4368-2del
|
rs1057516560 |
|
NM_033056.4(PCDH15):c.4368-1_4369dup
|
rs1554821139 |
|
NM_033056.4(PCDH15):c.4368-2A>T
|
rs989521806 |
|
NM_033056.4(PCDH15):c.4368-3_4379dup
|
rs1554821131 |
|
NM_033056.4(PCDH15):c.4368-76C>T
|
rs375657329 |
|
NM_033056.4(PCDH15):c.4368-77G>A
|
rs776152870 |
|
NM_033056.4(PCDH15):c.4368-77del
|
rs1554821197 |
|
NM_033056.4(PCDH15):c.4368-79_4368-76del
|
rs1554821194 |
|
NM_033056.4(PCDH15):c.4383C>A (p.Tyr1461Ter)
|
rs1033803342 |
|
NM_033056.4(PCDH15):c.4385A>G (p.His1462Arg)
|
|
|
NM_033056.4(PCDH15):c.4399_4410dup (p.Arg1467_Asn1470dup)
|
rs1554821093 |
|
NM_033056.4(PCDH15):c.4409_4413dup (p.Val1472fs)
|
rs749884609 |
|
NM_033056.4(PCDH15):c.4410_4420del (p.Asn1470fs)
|
rs767621707 |
|
NM_033056.4(PCDH15):c.4435_4437CAA[1] (p.Gln1480del)
|
rs1358121247 |
|
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs)
|
rs774056663 |
|
NM_033056.4(PCDH15):c.4546_4553dup (p.Glu1519fs)
|
rs1554820916 |
|
NM_033056.4(PCDH15):c.4548_4551del (p.Ser1517fs)
|
rs1233449433 |
|
NM_033056.4(PCDH15):c.4556_4557dup (p.Asp1520fs)
|
rs1554820902 |
|
NM_033056.4(PCDH15):c.4561_4565dup (p.Ser1523fs)
|
rs1554820894 |
|
NM_033056.4(PCDH15):c.4563_4566dup (p.Ser1523fs)
|
rs1554820891 |
|
NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=)
|
rs10825114 |
|
NM_033056.4(PCDH15):c.4603_4607del (p.Gln1535fs)
|
rs771473483 |
|
NM_033056.4(PCDH15):c.4618del (p.Ser1540fs)
|
rs1554820847 |
|
NM_033056.4(PCDH15):c.4621_4624dup (p.Ile1542fs)
|
rs1363726588 |
|
NM_033056.4(PCDH15):c.4639_4656dup (p.Asp1547_Phe1552dup)
|
rs1554820809 |
|
NM_033056.4(PCDH15):c.466G>A (p.Val156Met)
|
rs534173969 |
|
NM_033056.4(PCDH15):c.466G>C (p.Val156Leu)
|
rs534173969 |
|
NM_033056.4(PCDH15):c.4705_4708dup (p.Ile1570fs)
|
rs1554820749 |
|
NM_033056.4(PCDH15):c.4724_4726dup (p.Gln1576_Ser1577insArg)
|
rs762814533 |
|
NM_033056.4(PCDH15):c.4725_4728TCAG[4] (p.Leu1580fs)
|
rs770063261 |
|
NM_033056.4(PCDH15):c.4726C>T (p.Gln1576Ter)
|
rs758204385 |
|
NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=)
|
rs767811568 |
|
NM_033056.4(PCDH15):c.475-3C>T
|
rs41304641 |
|
NM_033056.4(PCDH15):c.4754dup (p.Met1585fs)
|
rs1554820712 |
|
NM_033056.4(PCDH15):c.4768_4771dup (p.Arg1591delinsLysTer)
|
rs1554820690 |
|
NM_033056.4(PCDH15):c.4769_4771dup (p.Asn1590dup)
|
rs1554820687 |
|
NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu)
|
rs397517461 |
|
NM_033056.4(PCDH15):c.4792C>T (p.Gln1598Ter)
|
rs1554820663 |
|
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser)
|
rs148718874 |
|
NM_033056.4(PCDH15):c.4812del (p.Arg1604fs)
|
rs1554820651 |
|
NM_033056.4(PCDH15):c.4813C>T (p.Gln1605Ter)
|
rs1554820648 |
|
NM_033056.4(PCDH15):c.4832del (p.Asn1611fs)
|
rs1554820630 |
|
NM_033056.4(PCDH15):c.4834dup (p.Thr1612fs)
|
rs1554820628 |
|
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser)
|
rs111033362 |
|
NM_033056.4(PCDH15):c.4853_4864dup (p.Lys1618_Ser1621dup)
|
rs1554820580 |
|
NM_033056.4(PCDH15):c.4875_4894del (p.Leu1626fs)
|
rs772393186 |
|
NM_033056.4(PCDH15):c.4875_4896del (p.Leu1625fs)
|
rs1240582095 |
|
NM_033056.4(PCDH15):c.4892C>A (p.Ala1631Glu)
|
rs56332160 |
|
NM_033056.4(PCDH15):c.4895_4897dup (p.Leu1633_Thr1634insTyr)
|
rs1554820541 |
|
NM_033056.4(PCDH15):c.4905_4907dup (p.Lys1636dup)
|
rs750133663 |
|
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs)
|
rs1491209806 |
|
NM_033056.4(PCDH15):c.4915_4918dup (p.Arg1640fs)
|
rs780945310 |
|
NM_033056.4(PCDH15):c.4921C>T (p.Gln1641Ter)
|
rs1484672299 |
|
NM_033056.4(PCDH15):c.4925del (p.Gly1642fs)
|
rs1554820498 |
|
NM_033056.4(PCDH15):c.4936A>G (p.Met1646Val)
|
rs141103437 |
|
NM_033056.4(PCDH15):c.4955_4963dup (p.Ser1655Ter)
|
rs1554820445 |
|
NM_033056.4(PCDH15):c.4964_4965CT[3] (p.Ser1657fs)
|
rs1491078644 |
|
NM_033056.4(PCDH15):c.4968_4970dup (p.Ser1658dup)
|
rs1554820428 |
|
NM_033056.4(PCDH15):c.4973C>A (p.Ser1658Ter)
|
rs902963615 |
|
NM_033056.4(PCDH15):c.4974A>C (p.Ser1658=)
|
rs147993163 |
|
NM_033056.4(PCDH15):c.4983_4986dup (p.Cys1663fs)
|
rs1554820394 |
|
NM_033056.4(PCDH15):c.4987dup (p.Cys1663fs)
|
rs775238614 |
|
NM_033056.4(PCDH15):c.4993C>A (p.Pro1665Thr)
|
rs886047062 |
|
NM_033056.4(PCDH15):c.5003_5007dup (p.Ser1670fs)
|
rs1554820378 |
|
NM_033056.4(PCDH15):c.5014_5022dup (p.Ser1672_Leu1674dup)
|
rs1554820353 |
|
NM_033056.4(PCDH15):c.5029_5032dup (p.Ser1678fs)
|
rs773160902 |
|
NM_033056.4(PCDH15):c.5047_5050dup (p.Lys1684fs)
|
rs1554820332 |
|
NM_033056.4(PCDH15):c.5061_5067dup (p.Ile1690Ter)
|
rs1554820318 |
|
NM_033056.4(PCDH15):c.5109_5129del (p.Arg1704_Ser1710del)
|
rs1554820270 |
|
NM_033056.4(PCDH15):c.5134_5135CT[5] (p.Arg1714delinsLeuTer)
|
rs1554820255 |
|
NM_033056.4(PCDH15):c.5161_5162del (p.Met1721fs)
|
rs1554820230 |
|
NM_033056.4(PCDH15):c.5177C>T (p.Thr1726Ile)
|
rs772619593 |
|
NM_033056.4(PCDH15):c.5193dup (p.Glu1732Ter)
|
rs1554820212 |
|
NM_033056.4(PCDH15):c.5245_5247CCT[3] (p.Pro1752del)
|
rs397517462 |
|
NM_033056.4(PCDH15):c.5252_5259del (p.Pro1751fs)
|
rs1554820145 |
|
NM_033056.4(PCDH15):c.5254_5280del (p.Pro1752_Pro1760del)
|
rs767526540 |
|
NM_033056.4(PCDH15):c.5257_5262del (p.Ile1753_Ser1754del)
|
rs1554820140 |
|
NM_033056.4(PCDH15):c.5257_5268dup (p.Ile1753_Pro1756dup)
|
rs756858099 |
|
NM_033056.4(PCDH15):c.5257_5277del (p.Ile1753_Pro1759del)
|
rs752658191 |
|
NM_033056.4(PCDH15):c.5266_5319del (p.Pro1756_Pro1773del)
|
rs1554820050 |
|
NM_033056.4(PCDH15):c.5269_5295del (p.Ser1757_Leu1765del)
|
rs957797299 |
|
NM_033056.4(PCDH15):c.526G>A (p.Ala176Thr)
|
|
|
NM_033056.4(PCDH15):c.5272_5274CCT[1] (p.Pro1759_Pro1760del)
|
rs754779351 |
|
NM_033056.4(PCDH15):c.5272_5274CCT[4] (p.Pro1760dup)
|
rs754779351 |
|
NM_033056.4(PCDH15):c.5274_5278del (p.Pro1759fs)
|
rs1554820127 |
|
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del)
|
rs373916538 |
|
NM_033056.4(PCDH15):c.5281_5286GCTCCT[1] (p.1761_1762AP[1])
|
rs397517465 |
|
NM_033056.4(PCDH15):c.5283T>A (p.Ala1761=)
|
rs375134176 |
|
NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=)
|
rs58461416 |
|
NM_033056.4(PCDH15):c.5294_5302dup (p.Leu1765_Pro1767dup)
|
rs557936064 |
|
NM_033056.4(PCDH15):c.5296_5304del (p.Ala1766_Pro1768del)
|
rs397517466 |
|
NM_033056.4(PCDH15):c.5308_5310del (p.Asp1770del)
|
rs1554820073 |
|
NM_033056.4(PCDH15):c.5313T>G (p.Ile1771Met)
|
rs886047061 |
|
NM_033056.4(PCDH15):c.5317_5319del (p.Pro1773del)
|
rs1415161284 |
|
NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg)
|
rs745583797 |
|
NM_033056.4(PCDH15):c.5332dup (p.Cys1778fs)
|
rs1338600699 |
|
NM_033056.4(PCDH15):c.5336del (p.Pro1779fs)
|
rs1554820022 |
|
NM_033056.4(PCDH15):c.5343del (p.Ser1782fs)
|
rs1554820009 |
|
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs)
|
rs748086016 |
|
NM_033056.4(PCDH15):c.5349_5359del (p.Pro1784fs)
|
rs1554819982 |
|
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro)
|
rs144261647 |
|
NM_033056.4(PCDH15):c.5355_5365del (p.Ile1786fs)
|
rs1554819970 |
|
NM_033056.4(PCDH15):c.5357dup (p.Leu1788fs)
|
rs1376879405 |
|
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser)
|
rs61862390 |
|
NM_033056.4(PCDH15):c.5361_5376del (p.Pro1789fs)
|
rs1554819957 |
|
NM_033056.4(PCDH15):c.5363_5368TTCCTC[3] (p.1788_1789LP[3])
|
rs779691085 |
|
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs)
|
rs753690225 |
|
NM_033056.4(PCDH15):c.5388dup (p.Pro1797fs)
|
rs1554819925 |
|
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile)
|
rs111033463 |
|
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu)
|
rs114137983 |
|
NM_033056.4(PCDH15):c.5430_5438del (p.Leu1811_Pro1813del)
|
rs1554819833 |
|
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu)
|
rs139668636 |
|
NM_033056.4(PCDH15):c.5439A>C (p.Pro1813=)
|
rs150303579 |
|
NM_033056.4(PCDH15):c.5445_5456del (p.Thr1816_Pro1819del)
|
rs764759018 |
|
NM_033056.4(PCDH15):c.5450C>T (p.Pro1817Leu)
|
rs759208006 |
|
NM_033056.4(PCDH15):c.5463_5489del (p.Pro1823_Pro1831del)
|
rs1554819787 |
|
NM_033056.4(PCDH15):c.546A>G (p.Gly182=)
|
rs34164469 |
|
NM_033056.4(PCDH15):c.5472_5495del (p.Ile1825_Ser1832del)
|
rs763534924 |
|
NM_033056.4(PCDH15):c.5480G>T (p.Cys1827Phe)
|
rs776844300 |
|
NM_033056.4(PCDH15):c.5510C>T (p.Ser1837Phe)
|
|
|
NM_033056.4(PCDH15):c.5511_5512CA[1] (p.Thr1838fs)
|
rs1554819767 |
|
NM_033056.4(PCDH15):c.5520dup (p.Val1841fs)
|
rs1554819761 |
|
NM_033056.4(PCDH15):c.5550C>A (p.Thr1850=)
|
rs112097891 |
|
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu)
|
rs145903555 |
|
NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=)
|
rs111033445 |
|
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=)
|
rs111033445 |
|
NM_033056.4(PCDH15):c.5566G>A (p.Glu1856Lys)
|
rs371269732 |
|
NM_033056.4(PCDH15):c.5566G>T (p.Glu1856Ter)
|
rs371269732 |
|
NM_033056.4(PCDH15):c.556C>T (p.Gln186Ter)
|
rs1384677442 |
|
NM_033056.4(PCDH15):c.5598_5600AAC[1] (p.Thr1869del)
|
rs113363047 |
|
NM_033056.4(PCDH15):c.55T>G (p.Ser19Ala)
|
rs11004439 |
|
NM_033056.4(PCDH15):c.5600_5603delinsT (p.Thr1867_Thr1868delinsMet)
|
rs1554819686 |
|
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met)
|
rs191736346 |
|
NM_033056.4(PCDH15):c.5617dup (p.Thr1873fs)
|
rs1554819653 |
|
NM_033056.4(PCDH15):c.5619_5623dup (p.Pro1875fs)
|
rs1418472770 |
|
NM_033056.4(PCDH15):c.5626C>T (p.Gln1876Ter)
|
rs750274894 |
|
NM_033056.4(PCDH15):c.5628_5629GA[2] (p.Glu1878fs)
|
rs794727570 |
|
NM_033056.4(PCDH15):c.5653C>T (p.His1885Tyr)
|
rs886047060 |
|
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs)
|
rs1287068204 |
|
NM_033056.4(PCDH15):c.5684C>G (p.Ser1895Ter)
|
rs1554819599 |
|
NM_033056.4(PCDH15):c.5702_5705dup (p.Ile1903fs)
|
rs1554819570 |
|
NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val)
|
rs79854148 |
|
NM_033056.4(PCDH15):c.5710_5711del (p.Glu1904fs)
|
rs1554819558 |
|
NM_033056.4(PCDH15):c.5713A>T (p.Lys1905Ter)
|
rs780553426 |
|
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs)
|
rs568470164 |
|
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His)
|
rs145851144 |
|
NM_033056.4(PCDH15):c.5726G>T (p.Arg1909Leu)
|
rs145851144 |
|
NM_033056.4(PCDH15):c.5743_5766del (p.Leu1915_Glu1922del)
|
rs1554819513 |
|
NM_033056.4(PCDH15):c.5753del (p.Met1918fs)
|
rs1554819525 |
|
NM_033056.4(PCDH15):c.575A>G (p.Gln192Arg)
|
rs201496062 |
|
NM_033056.4(PCDH15):c.5798_5816dup (p.Asn1939fs)
|
rs755876430 |
|
NM_033056.4(PCDH15):c.5806_5807del (p.Ser1936fs)
|
rs1554819488 |
|
NM_033056.4(PCDH15):c.5806del (p.Ser1936fs)
|
rs1554819493 |
|
NM_033056.4(PCDH15):c.5818_5820dup (p.Ile1940dup)
|
rs750168790 |
|
NM_033056.4(PCDH15):c.5824G>A (p.Glu1942Lys)
|
|
|
NM_033056.4(PCDH15):c.5838_5841del (p.Lys1946fs)
|
rs1368908688 |
|
NM_033056.4(PCDH15):c.5849_5852dup (p.Thr1953fs)
|
rs757543551 |
|
NM_033056.4(PCDH15):c.5863del (p.Leu1955fs)
|
rs1554819436 |
|
NM_033056.4(PCDH15):c.5864T>C (p.Leu1955Pro)
|
rs751586980 |
|
NM_033056.4(PCDH15):c.593C>T (p.Pro198Leu)
|
rs145232643 |
|
NM_033056.4(PCDH15):c.594+1G>T
|
rs1057516470 |
|
NM_033056.4(PCDH15):c.594G>A (p.Pro198=)
|
rs368308772 |
|
NM_033056.4(PCDH15):c.647T>G (p.Leu216Ter)
|
rs1554903979 |
|
NM_033056.4(PCDH15):c.665A>G (p.Tyr222Cys)
|
rs755845400 |
|
NM_033056.4(PCDH15):c.705+1G>A
|
rs1554903842 |
|
NM_033056.4(PCDH15):c.705+2_705+3insTT
|
rs1554903836 |
|
NM_033056.4(PCDH15):c.706-17_706-14del
|
rs886047068 |
|
NM_033056.4(PCDH15):c.706-8C>T
|
rs10740579 |
|
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260 |
|
NM_033056.4(PCDH15):c.7C>T (p.Arg3Ter)
|
rs137853001 |
|
NM_033056.4(PCDH15):c.803G>A (p.Cys268Tyr)
|
rs1283739647 |
|
NM_033056.4(PCDH15):c.833G>A (p.Arg278His)
|
|
|
NM_033056.4(PCDH15):c.84T>A (p.Tyr28Ter)
|
rs903145299 |
|
NM_033056.4(PCDH15):c.851C>T (p.Ala284Val)
|
rs777071595 |
|
NM_033056.4(PCDH15):c.875C>G (p.Pro292Arg)
|
rs138744579 |
|
NM_033056.4(PCDH15):c.8G>A (p.Arg3Gln)
|
|
|
NM_033056.4(PCDH15):c.901dup (p.Thr301fs)
|
rs1057517048 |
|
NM_033056.4(PCDH15):c.92-515T>G
|
rs1283842168 |
|
NM_033056.4(PCDH15):c.942A>G (p.Gln314=)
|
rs149481989 |
|
NM_033056.4(PCDH15):c.944C>T (p.Pro315Leu)
|
|
|
NM_033056.4(PCDH15):c.952G>C (p.Asp318His)
|
|
|
NM_033056.4(PCDH15):c.960A>G (p.Pro320=)
|
rs41274634 |
|
NM_033056.4(PCDH15):c.986-11A>G
|
|
|
NM_052995.2(CLRN1):c.*107T>C
|
|
|
NM_052995.2(CLRN1):c.*178G>A
|
|
|
NM_052995.2(CLRN1):c.*246T>C
|
rs374292166 |
|
NM_052995.2(CLRN1):c.*247C>T
|
rs763746069 |
|
NM_052995.2(CLRN1):c.*81C>G
|
rs769315815 |
|
NM_052995.2(CLRN1):c.*97T>C
|
|
|
NM_052995.2(CLRN1):c.-103dup
|
rs1553772899 |
|
NM_052995.2(CLRN1):c.-16_-3del
|
rs1553772861 |
|
NM_052995.2(CLRN1):c.-28del
|
rs1211060908 |
|
NM_052995.2(CLRN1):c.-32del
|
rs1032160668 |
|
NM_052995.2(CLRN1):c.-49C>T
|
rs758741442 |
|
NM_052995.2(CLRN1):c.108C>G (p.Thr36=)
|
rs565400473 |
|
NM_052995.2(CLRN1):c.121_130del (p.Ala41fs)
|
rs1576631624 |
|
NM_052995.2(CLRN1):c.131T>A (p.Met44Lys)
|
rs121908141 |
|
NM_052995.2(CLRN1):c.140C>A (p.Ala47Asp)
|
rs374963432 |
|
NM_052995.2(CLRN1):c.144del (p.Phe48fs)
|
rs1553772595 |
|
NM_052995.2(CLRN1):c.179G>A (p.Gly60Glu)
|
rs779258184 |
|
NM_052995.2(CLRN1):c.183G>A (p.Leu61=)
|
|
|
NM_052995.2(CLRN1):c.205+1061A>T
|
rs567709615 |
|
NM_052995.2(CLRN1):c.205+1102G>T
|
rs1553772414 |
|
NM_052995.2(CLRN1):c.205+1G>A
|
rs201205811 |
|
NM_052995.2(CLRN1):c.205+2dup
|
rs1057516687 |
|
NM_052995.2(CLRN1):c.206-3C>A
|
|
|
NM_052995.2(CLRN1):c.209C>A (p.Ser70Tyr)
|
rs201625237 |
|
NM_052995.2(CLRN1):c.221T>C (p.Leu74Pro)
|
rs121908142 |
|
NM_052995.2(CLRN1):c.228_230del (p.Met76del)
|
rs1553770929 |
|
NM_052995.2(CLRN1):c.231_233del (p.Ile77_Leu78delinsMet)
|
rs1085307049 |
|
NM_052995.2(CLRN1):c.245A>G (p.Glu82Gly)
|
rs369185342 |
|
NM_052995.2(CLRN1):c.25+2T>C
|
rs778574679 |
|
NM_052995.2(CLRN1):c.274A>T (p.Ile92Phe)
|
|
|
NM_052995.2(CLRN1):c.274dup (p.Ile92fs)
|
rs746523071 |
|
NM_052995.2(CLRN1):c.2T>G (p.Met1Arg)
|
rs963890618 |
|
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)
|
rs121908140 |
|
NM_052995.2(CLRN1):c.313C>T (p.Gln105Ter)
|
rs376155416 |
|
NM_052995.2(CLRN1):c.342+138C>G
|
|
|
NM_052995.2(CLRN1):c.342+219A>G
|
rs780643561 |
|
NM_052995.2(CLRN1):c.342+222T>C
|
|
|
NM_052995.2(CLRN1):c.342+244G>A
|
rs182501934 |
|
NM_052995.2(CLRN1):c.342+378G>A
|
|
|
NM_052995.2(CLRN1):c.342+394AT[5]
|
rs550716419 |
|
NM_052995.2(CLRN1):c.342+404A>G
|
rs570356810 |
|
NM_052995.2(CLRN1):c.342+406G>A
|
rs200685524 |
|
NM_052995.2(CLRN1):c.342+406GT[11]
|
rs34027634 |
|
NM_052995.2(CLRN1):c.342+406GT[12]
|
rs34027634 |
|
NM_052995.2(CLRN1):c.342+406GT[13]
|
rs34027634 |
|
NM_052995.2(CLRN1):c.342+406GT[15]
|
rs34027634 |
|
NM_052995.2(CLRN1):c.342+406GT[16]
|
rs34027634 |
|
NM_052995.2(CLRN1):c.342+427T>C
|
|
|
NM_052995.2(CLRN1):c.342+436G>T
|
rs886058091 |
|
NM_052995.2(CLRN1):c.342+444C>T
|
rs1456138 |
|
NM_052995.2(CLRN1):c.342+501C>T
|
rs4680058 |
|
NM_052995.2(CLRN1):c.342+554G>A
|
rs778645950 |
|
NM_052995.2(CLRN1):c.343-100C>T
|
rs16863066 |
|
NM_052995.2(CLRN1):c.343-180A>C
|
rs12635299 |
|
NM_052995.2(CLRN1):c.343-208G>A
|
rs748935256 |
|
NM_052995.2(CLRN1):c.343-229G>T
|
|
|
NM_052995.2(CLRN1):c.343-249T>C
|
|
|
NM_052995.2(CLRN1):c.343-25A>T
|
rs200446881 |
|
NM_052995.2(CLRN1):c.343-26G>A
|
rs201534956 |
|
NM_052995.2(CLRN1):c.343-32T>C
|
|
|
NM_052995.2(CLRN1):c.343-37T>G
|
|
|
NM_052995.2(CLRN1):c.343-472G>C
|
|
|
NM_052995.2(CLRN1):c.343-527T>C
|
|
|
NM_052995.2(CLRN1):c.3G>A (p.Met1Ile)
|
rs780023517 |
|
NM_052995.2(CLRN1):c.63C>T (p.Ile21=)
|
rs1231233910 |
|
NM_052995.2(CLRN1):c.73_77del (p.Val25fs)
|
rs397517932 |
|
NM_052995.2(CLRN1):c.95T>C (p.Leu32Pro)
|
rs1559982739 |
|
NM_153676.4(USH1C):c.*110C>G
|
|
|
NM_153676.4(USH1C):c.*117C>G
|
|
|
NM_153676.4(USH1C):c.*131G>C
|
|
|
NM_153676.4(USH1C):c.*140C>T
|
rs886048058 |
|
NM_153676.4(USH1C):c.*186C>T
|
rs1055577 |
|
NM_153676.4(USH1C):c.*211A>G
|
rs1055581 |
|
NM_153676.4(USH1C):c.*241C>G
|
|
|
NM_153676.4(USH1C):c.*376A>C
|
rs886048057 |
|
NM_153676.4(USH1C):c.*405C>G
|
rs11827649 |
|
NM_153676.4(USH1C):c.*419_*420insAACA
|
rs10626485 |
|
NM_153676.4(USH1C):c.*427T>C
|
|
|
NM_153676.4(USH1C):c.*42C>T
|
rs16934270 |
|
NM_153676.4(USH1C):c.*46T>C
|
rs1055574 |
|
NM_153676.4(USH1C):c.*95C>T
|
rs552838747 |
|
NM_153676.4(USH1C):c.-109A>T
|
|
|
NM_153676.4(USH1C):c.-60T>C
|
rs371444878 |
|
NM_153676.4(USH1C):c.-60T>G
|
|
|
NM_153676.4(USH1C):c.-71T>G
|
rs571065113 |
|
NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala)
|
rs876658109 |
|
NM_153676.4(USH1C):c.1016G>A (p.Arg339Gln)
|
rs765571023 |
|
NM_153676.4(USH1C):c.101A>G (p.His34Arg)
|
rs75157409 |
|
NM_153676.4(USH1C):c.1020-2A>C
|
rs147956944 |
|
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)
|
rs762551629 |
|
NM_153676.4(USH1C):c.104+1G>A
|
rs1287021691 |
|
NM_153676.4(USH1C):c.105-4A>G
|
rs201374986 |
|
NM_153676.4(USH1C):c.1064G>T (p.Arg355Ile)
|
|
|
NM_153676.4(USH1C):c.1069C>T (p.Arg357Trp)
|
rs140934960 |
|
NM_153676.4(USH1C):c.1085+7A>G
|
|
|
NM_153676.4(USH1C):c.1086-12G>A
|
rs11024318 |
|
NM_153676.4(USH1C):c.1086-13G>T
|
rs200490320 |
|
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer)
|
rs1554960390 |
|
NM_153676.4(USH1C):c.1146dup (p.Gln383fs)
|
rs1554960388 |
|
NM_153676.4(USH1C):c.114C>T (p.Asp38=)
|
rs137962152 |
|
NM_153676.4(USH1C):c.1188A>G (p.Pro396=)
|
rs2240487 |
|
NM_153676.4(USH1C):c.1210+5G>A
|
rs372285784 |
|
NM_153676.4(USH1C):c.1211-1106G>A
|
|
|
NM_153676.4(USH1C):c.1211-1129G>A
|
rs35188020 |
|
NM_153676.4(USH1C):c.1211-1134G>A
|
rs115931035 |
|
NM_153676.4(USH1C):c.1211-1152G>A
|
rs116996553 |
|
NM_153676.4(USH1C):c.1211-1175G>A
|
rs143923730 |
|
NM_153676.4(USH1C):c.1211-1175G>C
|
|
|
NM_153676.4(USH1C):c.1211-1175del
|
rs1207247951 |
|
NM_153676.4(USH1C):c.1216G>T (p.Gly406Ter)
|
rs1554959148 |
|
NM_153676.4(USH1C):c.1233C>T (p.Tyr411=)
|
rs377439949 |
|
NM_153676.4(USH1C):c.1265del (p.Gly422fs)
|
rs1554957912 |
|
NM_153676.4(USH1C):c.1290T>G (p.Tyr430Ter)
|
rs1406224812 |
|
NM_153676.4(USH1C):c.1292G>T (p.Gly431Val)
|
rs751388655 |
|
NM_153676.4(USH1C):c.1351_1356AAAGAG[1] (p.451_452KE[1])
|
rs1554957867 |
|
NM_153676.4(USH1C):c.1363G>T (p.Glu455Ter)
|
rs148115969 |
|
NM_153676.4(USH1C):c.1413+2T>C
|
rs1344670523 |
|
NM_153676.4(USH1C):c.1414-2_1414-1insCTG
|
rs769675063 |
|
NM_153676.4(USH1C):c.1415_1416insCTGAGACCCCCTGG (p.Ser473_Glu474insTer)
|
rs781176348 |
|
NM_153676.4(USH1C):c.1531-11A>G
|
rs397517872 |
|
NM_153676.4(USH1C):c.1543_1551CCCCCGCCT[3] (p.Pro518_Pro520dup)
|
rs777764626 |
|
NM_153676.4(USH1C):c.1548G>A (p.Pro516=)
|
rs780428813 |
|
NM_153676.4(USH1C):c.1556C>T (p.Pro519Leu)
|
rs778703128 |
|
NM_153676.4(USH1C):c.1559dup (p.Ser521fs)
|
rs1554957167 |
|
NM_153676.4(USH1C):c.164G>A (p.Arg55His)
|
rs1042393529 |
|
NM_153676.4(USH1C):c.1654_1660del (p.Tyr552fs)
|
rs758580540 |
|
NM_153676.4(USH1C):c.1712_1716dup (p.Pro573fs)
|
rs1554957020 |
|
NM_153676.4(USH1C):c.1739_1744del (p.Pro580_Val581del)
|
rs1175090344 |
|
NM_153676.4(USH1C):c.1806del (p.Ile603fs)
|
rs765346539 |
|
NM_153676.4(USH1C):c.1806dup (p.Ile603fs)
|
rs765346539 |
|
NM_153676.4(USH1C):c.1807dup (p.Ile603fs)
|
rs1554956941 |
|
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser)
|
rs727505247 |
|
NM_153676.4(USH1C):c.1824del (p.Pro609fs)
|
rs1389725640 |
|
NM_153676.4(USH1C):c.1840C>T (p.Gln614Ter)
|
rs1554956913 |
|
NM_153676.4(USH1C):c.1840del (p.Gln614fs)
|
rs1554956916 |
|
NM_153676.4(USH1C):c.186T>C (p.Ile62=)
|
rs200239508 |
|
NM_153676.4(USH1C):c.1871C>A (p.Ser624Ter)
|
rs778700091 |
|
NM_153676.4(USH1C):c.1874C>T (p.Ala625Val)
|
rs727505187 |
|
NM_153676.4(USH1C):c.187C>T (p.Arg63Trp)
|
rs375741564 |
|
NM_153676.4(USH1C):c.188G>A (p.Arg63Gln)
|
rs372497947 |
|
NM_153676.4(USH1C):c.192G>A (p.Pro64=)
|
rs1040470628 |
|
NM_153676.4(USH1C):c.1954_1955CA[1] (p.His652fs)
|
rs766725582 |
|
NM_153676.4(USH1C):c.1A>G (p.Met1Val)
|
rs1554965967 |
|
NM_153676.4(USH1C):c.2006_2010del (p.Thr669fs)
|
rs1554956821 |
|
NM_153676.4(USH1C):c.200C>T (p.Pro67Leu)
|
|
|
NM_153676.4(USH1C):c.2014-1G>A
|
rs150567427 |
|
NM_153676.4(USH1C):c.2041C>T (p.Arg681Ter)
|
rs369369849 |
|
NM_153676.4(USH1C):c.2089G>T (p.Glu697Ter)
|
rs139116036 |
|
NM_153676.4(USH1C):c.2124T>C (p.Ser708=)
|
rs369021714 |
|
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
|
rs146451547 |
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328 |
|
NM_153676.4(USH1C):c.2185-2A>G
|
rs1358056232 |
|
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp)
|
rs397517874 |
|
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln)
|
rs371626423 |
|
NM_153676.4(USH1C):c.2194A>G (p.Lys732Glu)
|
rs148168494 |
|
NM_153676.4(USH1C):c.2226+12C>T
|
rs17703528 |
|
NM_153676.4(USH1C):c.2227-1G>A
|
rs778110397 |
|
NM_153676.4(USH1C):c.2227-1G>T
|
rs778110397 |
|
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg)
|
rs201600193 |
|
NM_153676.4(USH1C):c.2253G>A (p.Lys751=)
|
|
|
NM_153676.4(USH1C):c.225T>C (p.Asp75=)
|
rs111033279 |
|
NM_153676.4(USH1C):c.2265C>G (p.Leu755=)
|
rs151251262 |
|
NM_153676.4(USH1C):c.2280+15G>A
|
rs886048059 |
|
NM_153676.4(USH1C):c.2280+2T>C
|
rs1554954681 |
|
NM_153676.4(USH1C):c.2281-1G>A
|
rs1554954574 |
|
NM_153676.4(USH1C):c.2281-2A>G
|
rs921755529 |
|
NM_153676.4(USH1C):c.2326dup (p.Ile776fs)
|
rs758555088 |
|
NM_153676.4(USH1C):c.2340C>T (p.Val780=)
|
rs10832796 |
|
NM_153676.4(USH1C):c.2341G>A (p.Val781Ile)
|
rs397517875 |
|
NM_153676.4(USH1C):c.2362G>A (p.Gly788Arg)
|
|
|
NM_153676.4(USH1C):c.2378A>G (p.His793Arg)
|
rs868121889 |
|
NM_153676.4(USH1C):c.2381-2A>G
|
rs1465352266 |
|
NM_153676.4(USH1C):c.2410G>A (p.Ala804Thr)
|
rs150593932 |
|
NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys)
|
rs397517876 |
|
NM_153676.4(USH1C):c.2418C>T (p.Asn806=)
|
rs397517876 |
|
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser)
|
rs142652588 |
|
NM_153676.4(USH1C):c.241C>T (p.Arg81Cys)
|
rs876658111 |
|
NM_153676.4(USH1C):c.2431_2451del (p.Thr811_Glu817del)
|
rs779253356 |
|
NM_153676.4(USH1C):c.2437T>G (p.Tyr813Asp)
|
|
|
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn)
|
rs397517877 |
|
NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp)
|
rs1064074 |
|
NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr)
|
rs397517878 |
|
NM_153676.4(USH1C):c.245C>G (p.Ser82Cys)
|
rs769021971 |
|
NM_153676.4(USH1C):c.248+1G>A
|
rs1482487617 |
|
NM_153676.4(USH1C):c.2487C>T (p.Gly829=)
|
rs142801489 |
|
NM_153676.4(USH1C):c.2490+12G>C
|
rs2072232 |
|
NM_153676.4(USH1C):c.2490+1G>T
|
rs1554953746 |
|
NM_153676.4(USH1C):c.2490+1del
|
rs1366154374 |
|
NM_153676.4(USH1C):c.2490+2T>C
|
rs1554953745 |
|
NM_153676.4(USH1C):c.2490+6A>C
|
|
|
NM_153676.4(USH1C):c.2499C>T (p.Ile833=)
|
rs34581703 |
|
NM_153676.4(USH1C):c.2528dup (p.Glu844fs)
|
rs1554953360 |
|
NM_153676.4(USH1C):c.2541T>C (p.Asp847=)
|
|
|
NM_153676.4(USH1C):c.2546+1G>T
|
rs1554953350 |
|
NM_153676.4(USH1C):c.2547-1G>T
|
rs571304936 |
|
NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter)
|
rs767767573 |
|
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr)
|
rs56165709 |
|
NM_153676.4(USH1C):c.2617G>A (p.Val873Met)
|
rs201533059 |
|
NM_153676.4(USH1C):c.2655+12G>A
|
rs727504552 |
|
NM_153676.4(USH1C):c.2656-1G>A
|
rs747133793 |
|
NM_153676.4(USH1C):c.2661_2663TCT[1] (p.Leu889del)
|
rs1474458620 |
|
NM_153676.4(USH1C):c.266G>A (p.Arg89His)
|
rs749647539 |
|
NM_153676.4(USH1C):c.2681del (p.Gly894fs)
|
rs1554952757 |
|
NM_153676.4(USH1C):c.2688_2695dup (p.Arg899fs)
|
rs1554952752 |
|
NM_153676.4(USH1C):c.294C>T (p.Leu98=)
|
rs34055234 |
|
NM_153676.4(USH1C):c.308G>A (p.Arg103His)
|
rs397514500 |
|
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp)
|
rs1317951509 |
|
NM_153676.4(USH1C):c.36+1G>T
|
rs1403777293 |
|
NM_153676.4(USH1C):c.379G>A (p.Gly127Arg)
|
rs768207716 |
|
NM_153676.4(USH1C):c.381G>T (p.Gly127=)
|
rs41282942 |
|
NM_153676.4(USH1C):c.388-8T>A
|
rs777486804 |
|
NM_153676.4(USH1C):c.388G>A (p.Val130Ile)
|
rs55843567 |
|
NM_153676.4(USH1C):c.403G>A (p.Val135Ile)
|
rs145013633 |
|
NM_153676.4(USH1C):c.406C>T (p.Arg136Trp)
|
rs368903400 |
|
NM_153676.4(USH1C):c.440A>G (p.His147Arg)
|
rs777591673 |
|
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter)
|
rs377145777 |
|
NM_153676.4(USH1C):c.464G>C (p.Arg155Pro)
|
rs142730611 |
|
NM_153676.4(USH1C):c.496+1G>A
|
rs138138689 |
|
NM_153676.4(USH1C):c.496+1G>T
|
rs138138689 |
|
NM_153676.4(USH1C):c.496+21GCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG[9]
|
rs55983148 |
|
NM_153676.4(USH1C):c.496C>T (p.His166Tyr)
|
rs367996370 |
|
NM_153676.4(USH1C):c.497-2del
|
rs1480243085 |
|
NM_153676.4(USH1C):c.497-4G>A
|
rs397517881 |
|
NM_153676.4(USH1C):c.540C>T (p.Leu180=)
|
rs145510974 |
|
NM_153676.4(USH1C):c.569C>T (p.Ser190Leu)
|
rs200319849 |
|
NM_153676.4(USH1C):c.570G>A (p.Ser190=)
|
rs756709989 |
|
NM_153676.4(USH1C):c.579+1G>C
|
rs1283092935 |
|
NM_153676.4(USH1C):c.582C>T (p.Gly194=)
|
rs397517882 |
|
NM_153676.4(USH1C):c.598G>A (p.Gly200Ser)
|
rs770543827 |
|
NM_153676.4(USH1C):c.629A>C (p.Lys210Thr)
|
rs372789934 |
|
NM_153676.4(USH1C):c.634G>A (p.Val212Ile)
|
rs886048060 |
|
NM_153676.4(USH1C):c.648G>A (p.Leu216=)
|
rs77137413 |
|
NM_153676.4(USH1C):c.651A>G (p.Val217=)
|
rs75977878 |
|
NM_153676.4(USH1C):c.669C>A (p.Gly223=)
|
rs144761543 |
|
NM_153676.4(USH1C):c.66G>A (p.Glu22=)
|
rs768165881 |
|
NM_153676.4(USH1C):c.672C>A (p.Cys224Ter)
|
rs1223763703 |
|
NM_153676.4(USH1C):c.674+1G>A
|
rs775496999 |
|
NM_153676.4(USH1C):c.674+1del
|
rs1554961872 |
|
NM_153676.4(USH1C):c.674+2T>G
|
rs1298596518 |
|
NM_153676.4(USH1C):c.674+4G>A
|
rs202095395 |
|
NM_153676.4(USH1C):c.684C>T (p.Ser228=)
|
rs149172005 |
|
NM_153676.4(USH1C):c.748_759+5del
|
rs1355262412 |
|
NM_153676.4(USH1C):c.759+10G>T
|
rs368528034 |
|
NM_153676.4(USH1C):c.760-1G>T
|
rs1187887456 |
|
NM_153676.4(USH1C):c.76C>T (p.Leu26Phe)
|
rs267602805 |
|
NM_153676.4(USH1C):c.789C>G (p.Gly263=)
|
rs376197674 |
|
NM_153676.4(USH1C):c.790G>A (p.Val264Ile)
|
rs79875849 |
|
NM_153676.4(USH1C):c.793G>A (p.Asp265Asn)
|
rs199537187 |
|
NM_153676.4(USH1C):c.7C>T (p.Arg3Ter)
|
rs876657624 |
|
NM_153676.4(USH1C):c.819+10G>C
|
rs41282936 |
|
NM_153676.4(USH1C):c.819+1G>A
|
rs1554961152 |
|
NM_153676.4(USH1C):c.841_848del (p.Ser281fs)
|
rs1064797153 |
|
NM_153676.4(USH1C):c.845G>A (p.Arg282His)
|
rs779111365 |
|
NM_153676.4(USH1C):c.851T>A (p.Leu284Gln)
|
rs756485601 |
|
NM_153676.4(USH1C):c.875C>G (p.Ala292Gly)
|
|
|
NM_153676.4(USH1C):c.877-1G>A
|
rs771279169 |
|
NM_153676.4(USH1C):c.880C>T (p.Arg294Trp)
|
rs555152976 |
|
NM_153676.4(USH1C):c.881G>A (p.Arg294Gln)
|
rs773481791 |
|
NM_153676.4(USH1C):c.883G>A (p.Glu295Lys)
|
rs200127622 |
|
NM_153676.4(USH1C):c.915_920del (p.Glu306_Ala307del)
|
rs1554960929 |
|
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter)
|
rs121908370 |
|
NM_153676.4(USH1C):c.921G>A (p.Ala307=)
|
rs778447994 |
|
NM_153676.4(USH1C):c.923G>A (p.Arg308Gln)
|
|
|
NM_153676.4(USH1C):c.92G>A (p.Arg31Gln)
|
rs776511246 |
|
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln)
|
rs35336155 |
|
NM_173477.2(USH1G):c.*371delA
|
|
|
NM_173477.5(USH1G):c.*1018G>A
|
rs780234900 |
|
NM_173477.5(USH1G):c.*1052C>T
|
|
|
NM_173477.5(USH1G):c.*1053G>A
|
rs113583471 |
|
NM_173477.5(USH1G):c.*1093=
|
rs690566 |
|
NM_173477.5(USH1G):c.*1098T>A
|
|
|
NM_173477.5(USH1G):c.*1112C>T
|
|
|
NM_173477.5(USH1G):c.*1119G>A
|
rs182142592 |
|
NM_173477.5(USH1G):c.*1130T>C
|
|
|
NM_173477.5(USH1G):c.*1150_*1151TG[5]
|
rs368387485 |
|
NM_173477.5(USH1G):c.*1154T>A
|
|
|
NM_173477.5(USH1G):c.*1168_*1169TG[6]
|
rs746904393 |
|
NM_173477.5(USH1G):c.*1168_*1169TG[8]
|
rs746904393 |
|
NM_173477.5(USH1G):c.*1174T>G
|
|
|
NM_173477.5(USH1G):c.*1191G>A
|
|
|
NM_173477.5(USH1G):c.*1224A>C
|
rs111922548 |
|
NM_173477.5(USH1G):c.*1303C>T
|
rs1013013 |
|
NM_173477.5(USH1G):c.*1376G>A
|
|
|
NM_173477.5(USH1G):c.*1447C>T
|
|
|
NM_173477.5(USH1G):c.*1656T>C
|
rs8067775 |
|
NM_173477.5(USH1G):c.*1719G>T
|
rs886053384 |
|
NM_173477.5(USH1G):c.*1732C>T
|
rs886053383 |
|
NM_173477.5(USH1G):c.*1821C>G
|
|
|
NM_173477.5(USH1G):c.*1900G>C
|
rs1568448 |
|
NM_173477.5(USH1G):c.*1903_*1905dup
|
rs886053382 |
|
NM_173477.5(USH1G):c.*1922A>G
|
|
|
NM_173477.5(USH1G):c.*1987C>T
|
rs886053381 |
|
NM_173477.5(USH1G):c.*198T>C
|
|
|
NM_173477.5(USH1G):c.*1990A>G
|
rs113905467 |
|
NM_173477.5(USH1G):c.*202G>A
|
rs557845589 |
|
NM_173477.5(USH1G):c.*233C>G
|
|
|
NM_173477.5(USH1G):c.*256C>T
|
|
|
NM_173477.5(USH1G):c.*279G>T
|
rs886053387 |
|
NM_173477.5(USH1G):c.*482C>T
|
|
|
NM_173477.5(USH1G):c.*498G>A
|
rs569461974 |
|
NM_173477.5(USH1G):c.*49C>T
|
rs199648830 |
|
NM_173477.5(USH1G):c.*553A>C
|
rs111899313 |
|
NM_173477.5(USH1G):c.*567C>G
|
|
|
NM_173477.5(USH1G):c.*571T>A
|
rs111611253 |
|
NM_173477.5(USH1G):c.*63C>T
|
rs113765180 |
|
NM_173477.5(USH1G):c.*680C>G
|
|
|
NM_173477.5(USH1G):c.*704G>A
|
|
|
NM_173477.5(USH1G):c.*776G>A
|
|
|
NM_173477.5(USH1G):c.*809C>A
|
rs886053386 |
|
NM_173477.5(USH1G):c.*831C>T
|
|
|
NM_173477.5(USH1G):c.*940C>G
|
|
|
NM_173477.5(USH1G):c.*95C>G
|
rs886053388 |
|
NM_173477.5(USH1G):c.-173G>C
|
rs570755897 |
|
NM_173477.5(USH1G):c.-2C>T
|
rs758940726 |
|
NM_173477.5(USH1G):c.-76A>G
|
|
|
NM_173477.5(USH1G):c.-8C>T
|
rs769903865 |
|
NM_173477.5(USH1G):c.1057G>A (p.Asp353Asn)
|
|
|
NM_173477.5(USH1G):c.1060G>T (p.Asp354Tyr)
|
rs1316299165 |
|
NM_173477.5(USH1G):c.113G>A (p.Trp38Ter)
|
rs104894652 |
|
NM_173477.5(USH1G):c.1142T>C (p.Leu381Ser)
|
|
|
NM_173477.5(USH1G):c.1152C>T (p.Asp384=)
|
rs569032124 |
|
NM_173477.5(USH1G):c.1170C>T (p.Ser390=)
|
rs199724052 |
|
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val)
|
rs139897506 |
|
NM_173477.5(USH1G):c.126T>C (p.His42=)
|
|
|
NM_173477.5(USH1G):c.1311del (p.Lys438fs)
|
rs886043626 |
|
NM_173477.5(USH1G):c.143T>C (p.Leu48Pro)
|
rs104894651 |
|
NM_173477.5(USH1G):c.186_187del (p.Ile63fs)
|
rs730880268 |
|
NM_173477.5(USH1G):c.205dup (p.Leu69fs)
|
rs1598584825 |
|
NM_173477.5(USH1G):c.327C>T (p.Gly109=)
|
|
|
NM_173477.5(USH1G):c.344G>A (p.Arg115His)
|
rs775117744 |
|
NM_173477.5(USH1G):c.348C>T (p.Tyr116=)
|
rs886053390 |
|
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu)
|
rs111033465 |
|
NM_173477.5(USH1G):c.394dup (p.Val132fs)
|
rs587776546 |
|
NM_173477.5(USH1G):c.424G>A (p.Glu142Lys)
|
rs111033466 |
|
NM_173477.5(USH1G):c.424G>C (p.Glu142Gln)
|
|
|
NM_173477.5(USH1G):c.436C>T (p.Arg146Cys)
|
rs141791769 |
|
NM_173477.5(USH1G):c.46C>G (p.Leu16Val)
|
rs876657419 |
|
NM_173477.5(USH1G):c.474C>G (p.His158Gln)
|
rs765860407 |
|
NM_173477.5(USH1G):c.478C>G (p.Arg160Gly)
|
rs376527217 |
|
NM_173477.5(USH1G):c.501C>G (p.Arg167=)
|
rs141688757 |
|
NM_173477.5(USH1G):c.511G>T (p.Glu171Ter)
|
rs201866631 |
|
NM_173477.5(USH1G):c.563G>T (p.Arg188Leu)
|
rs201123735 |
|
NM_173477.5(USH1G):c.566G>A (p.Arg189Gln)
|
rs201644674 |
|
NM_173477.5(USH1G):c.635G>C (p.Gly212Ala)
|
|
|
NM_173477.5(USH1G):c.644del (p.Lys215fs)
|
rs1567940040 |
|
NM_173477.5(USH1G):c.753C>T (p.Ser251=)
|
rs886053389 |
|
NM_173477.5(USH1G):c.832_851del (p.Ser278fs)
|
rs397515345 |
|
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu)
|
rs142486910 |
|
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu)
|
rs145448362 |
|
NM_206933.2(USH2A):c.(1971+1_1972-1)_(2993+1_2994-1)dup
|
|
|
NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup
|
|
|
NM_206933.2(USH2A):c.1644+10004_1972-12164del
|
|
|
NM_206933.2(USH2A):c.3368A>G
|
rs775177930 |
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524 |
|
NM_206933.2(USH2A):c.4396+6857_6486-425del
|
|
|
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs)
|
rs774573692 |
|
NM_206933.2(USH2A):c.852_853delGA (p.Glu284Aspfs)
|
rs1188025733 |
|
NM_206933.2(USH2A):c.[12100G>A];[3367T>C]
|
|
|
NM_206933.2(USH2A):c.[2299del;4714C>T]
|
|
|
NM_206933.2:c.(?_4628)_(9371_?)del
|
|
|
NM_206933.2:c.6326-3582_6658-1028del
|
|
|
NM_206933.3(USH2A):c.1001G>A (p.Arg334Gln)
|
rs758303489 |
|
NM_206933.3(USH2A):c.100C>T (p.Arg34Ter)
|
rs772808534 |
|
NM_206933.3(USH2A):c.10151C>A (p.Ser3384Tyr)
|
rs553202000 |
|
NM_206933.3(USH2A):c.10179del (p.Met3393fs)
|
rs1553262411 |
|
NM_206933.3(USH2A):c.10183-1375_10387+1389del
|
|
|
NM_206933.3(USH2A):c.10246T>G (p.Cys3416Gly)
|
rs527236140 |
|
NM_206933.3(USH2A):c.10317_10318delinsT (p.Ile3440fs)
|
rs1553261898 |
|
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814 |
|
NM_206933.3(USH2A):c.1036A>C (p.Asn346His)
|
rs369522997 |
|
NM_206933.3(USH2A):c.10385C>T (p.Thr3462Ile)
|
rs1416602859 |
|
NM_206933.3(USH2A):c.10388-1G>A
|
rs1553261478 |
|
NM_206933.3(USH2A):c.10388-2A>G
|
rs1553261479 |
|
NM_206933.3(USH2A):c.1040A>G (p.Asp347Gly)
|
rs762384558 |
|
NM_206933.3(USH2A):c.10421A>G (p.Tyr3474Cys)
|
rs749121941 |
|
NM_206933.3(USH2A):c.10465G>A (p.Ala3489Thr)
|
rs1553261464 |
|
NM_206933.3(USH2A):c.10525A>T (p.Lys3509Ter)
|
rs944675223 |
|
NM_206933.3(USH2A):c.10559A>G (p.Asn3520Ser)
|
rs777043718 |
|
NM_206933.3(USH2A):c.10586-2A>G
|
rs370327669 |
|
NM_206933.3(USH2A):c.10596_10597insAT (p.Tyr3533fs)
|
rs1553261387 |
|
NM_206933.3(USH2A):c.10634G>A (p.Arg3545Gln)
|
rs375978706 |
|
NM_206933.3(USH2A):c.10636G>A (p.Gly3546Arg)
|
rs1553261372 |
|
NM_206933.3(USH2A):c.10657G>A (p.Asp3553Asn)
|
rs910086490 |
|
NM_206933.3(USH2A):c.10842_10845del (p.Glu3614fs)
|
rs1553261118 |
|
NM_206933.3(USH2A):c.10852G>A (p.Gly3618Ser)
|
rs778158900 |
|
NM_206933.3(USH2A):c.10859T>C (p.Ile3620Thr)
|
rs779716464 |
|
NM_206933.3(USH2A):c.10999A>C (p.Thr3667Pro)
|
rs150822759 |
|
NM_206933.3(USH2A):c.11048-2A>G
|
rs200871041 |
|
NM_206933.3(USH2A):c.11096_11098del (p.Glu3699_Leu3700delinsVal)
|
rs1553259182 |
|
NM_206933.3(USH2A):c.11100_11104del (p.Tyr3701fs)
|
rs1553259179 |
|
NM_206933.3(USH2A):c.11105G>A (p.Trp3702Ter)
|
rs1057519193 |
|
NM_206933.3(USH2A):c.1111_1112del (p.Ile371fs)
|
rs1366496013 |
|
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His)
|
rs527236139 |
|
NM_206933.3(USH2A):c.11174del (p.Phe3725fs)
|
rs1571657875 |
|
NM_206933.3(USH2A):c.11231+1G>A
|
rs111033382 |
|
NM_206933.3(USH2A):c.11241C>A (p.Tyr3747Ter)
|
rs777465132 |
|
NM_206933.3(USH2A):c.11290dup (p.Ile3764fs)
|
rs1553259060 |
|
NM_206933.3(USH2A):c.11328T>A (p.Tyr3776Ter)
|
rs749726310 |
|
NM_206933.3(USH2A):c.11389+1G>A
|
rs368770647 |
|
NM_206933.3(USH2A):c.11389+1del
|
rs1414935620 |
|
NM_206933.3(USH2A):c.11389+3A>T
|
rs753886165 |
|
NM_206933.3(USH2A):c.11390-2del
|
rs760100733 |
|
NM_206933.3(USH2A):c.11403_11404delinsTTT (p.Glu3802fs)
|
rs1553257707 |
|
NM_206933.3(USH2A):c.1142A>G (p.Gln381Arg)
|
rs1553250774 |
|
NM_206933.3(USH2A):c.11431_11434del (p.Leu3811fs)
|
rs1553257705 |
|
NM_206933.3(USH2A):c.11434_11436del (p.Asn3812del)
|
rs1553257704 |
|
NM_206933.3(USH2A):c.11534A>C (p.Gln3845Pro)
|
rs1553257674 |
|
NM_206933.3(USH2A):c.11549-1G>A
|
rs878853407 |
|
NM_206933.3(USH2A):c.11594C>A (p.Ala3865Glu)
|
rs1064797132 |
|
NM_206933.3(USH2A):c.11687_11689TCA[2] (p.Ile3898del)
|
rs727504714 |
|
NM_206933.3(USH2A):c.11694del (p.Asn3899fs)
|
rs1553257502 |
|
NM_206933.3(USH2A):c.11703del (p.Phe3901fs)
|
rs1553257497 |
|
NM_206933.3(USH2A):c.11712-2A>C
|
rs753505333 |
|
NM_206933.3(USH2A):c.11712-2A>G
|
rs753505333 |
|
NM_206933.3(USH2A):c.11713C>T (p.Arg3905Cys)
|
rs368675850 |
|
NM_206933.3(USH2A):c.11734dup (p.Glu3912fs)
|
rs1553256587 |
|
NM_206933.3(USH2A):c.11815dup (p.Glu3939fs)
|
rs1553256576 |
|
NM_206933.3(USH2A):c.11831C>A (p.Ala3944Asp)
|
rs1431048303 |
|
NM_206933.3(USH2A):c.11873_11874CA[1] (p.Gln3959fs)
|
rs779791079 |
|
NM_206933.3(USH2A):c.12079C>T (p.Gln4027Ter)
|
rs527236138 |
|
NM_206933.3(USH2A):c.12126_12128TGT[1] (p.Val4044del)
|
rs1553252937 |
|
NM_206933.3(USH2A):c.12139_12147del (p.Asn4047_Ala4049del)
|
rs1553252931 |
|
NM_206933.3(USH2A):c.1214del (p.Asn405fs)
|
rs750228923 |
|
NM_206933.3(USH2A):c.12151G>T (p.Glu4051Ter)
|
rs1262416703 |
|
NM_206933.3(USH2A):c.12232G>T (p.Glu4078Ter)
|
rs988693758 |
|
NM_206933.3(USH2A):c.12268C>A (p.Pro4090Thr)
|
rs780893919 |
|
NM_206933.3(USH2A):c.1227G>A (p.Trp409Ter)
|
rs397517979 |
|
NM_206933.3(USH2A):c.12295-?_14133+?del
|
|
|
NM_206933.3(USH2A):c.12309del (p.Phe4103fs)
|
rs1553252528 |
|
NM_206933.3(USH2A):c.1246G>T (p.Ala416Ser)
|
rs187897763 |
|
NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala)
|
rs113107803 |
|
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys)
|
rs750396156 |
|
NM_206933.3(USH2A):c.12580T>C (p.Cys4194Arg)
|
rs769001387 |
|
NM_206933.3(USH2A):c.12602del (p.Gly4201fs)
|
rs1553252499 |
|
NM_206933.3(USH2A):c.12697_12698del (p.Trp4233fs)
|
rs764917754 |
|
NM_206933.3(USH2A):c.12712T>C (p.Tyr4238His)
|
rs1571949388 |
|
NM_206933.3(USH2A):c.12737_12738delinsGG (p.Ala4246Gly)
|
rs1553252489 |
|
NM_206933.3(USH2A):c.12790G>A (p.Glu4264Lys)
|
rs200792578 |
|
NM_206933.3(USH2A):c.12806C>G (p.Pro4269Arg)
|
rs1553252475 |
|
NM_206933.3(USH2A):c.12819T>A (p.Tyr4273Ter)
|
rs1362058696 |
|
NM_206933.3(USH2A):c.12859_12863del (p.Pro4287fs)
|
rs1553252469 |
|
NM_206933.3(USH2A):c.12954C>A (p.Tyr4318Ter)
|
rs762159022 |
|
NM_206933.3(USH2A):c.13094G>A (p.Trp4365Ter)
|
rs1163061829 |
|
NM_206933.3(USH2A):c.13112_13115del (p.Gln4371fs)
|
rs768161313 |
|
NM_206933.3(USH2A):c.13126T>G (p.Trp4376Gly)
|
rs775490668 |
|
NM_206933.3(USH2A):c.13168_13171TTAG[1] (p.Val4391fs)
|
rs1553252409 |
|
NM_206933.3(USH2A):c.1316T>C (p.Leu439Pro)
|
rs1558038097 |
|
NM_206933.3(USH2A):c.13207_13208del (p.Gly4403fs)
|
rs746447649 |
|
NM_206933.3(USH2A):c.13217T>C (p.Leu4406Pro)
|
rs745693690 |
|
NM_206933.3(USH2A):c.13257_13263del (p.Phe4419fs)
|
rs1057517533 |
|
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile)
|
rs753330544 |
|
NM_206933.3(USH2A):c.13337delinsGTC (p.Asn4446fs)
|
rs1553252389 |
|
NM_206933.3(USH2A):c.13339A>G (p.Met4447Val)
|
rs139474806 |
|
NM_206933.3(USH2A):c.1340A>G (p.Tyr447Cys)
|
rs1553250638 |
|
NM_206933.3(USH2A):c.13441A>G (p.Arg4481Gly)
|
rs878853406 |
|
NM_206933.3(USH2A):c.1346G>A (p.Arg449His)
|
rs766715882 |
|
NM_206933.3(USH2A):c.13556del (p.Ile4518_Leu4519insTer)
|
rs1553252363 |
|
NM_206933.3(USH2A):c.13621C>T (p.Gln4541Ter)
|
rs765476745 |
|
NM_206933.3(USH2A):c.13664C>T (p.Pro4555Leu)
|
rs772415448 |
|
NM_206933.3(USH2A):c.13665_13667dup (p.Val4556dup)
|
rs1553252347 |
|
NM_206933.3(USH2A):c.13700del (p.Leu4567fs)
|
rs1212608410 |
|
NM_206933.3(USH2A):c.13750dup (p.Thr4584fs)
|
rs1553252328 |
|
NM_206933.3(USH2A):c.13776G>C (p.Gln4592His)
|
rs1350039852 |
|
NM_206933.3(USH2A):c.13778C>T (p.Ser4593Leu)
|
rs1202573136 |
|
NM_206933.3(USH2A):c.13811+1G>A
|
rs1177257719 |
|
NM_206933.3(USH2A):c.13811+2T>C
|
rs766515318 |
|
NM_206933.3(USH2A):c.13812-1G>A
|
rs199782530 |
|
NM_206933.3(USH2A):c.13822C>T (p.Arg4608Ter)
|
rs367674026 |
|
NM_206933.3(USH2A):c.13898del (p.Pro4632_Leu4633insTer)
|
rs1553252052 |
|
NM_206933.3(USH2A):c.1390C>T (p.Arg464Cys)
|
rs1423536179 |
|
NM_206933.3(USH2A):c.1397G>T (p.Gly466Val)
|
rs1553250627 |
|
NM_206933.3(USH2A):c.13985del (p.Gln4662fs)
|
rs1553252041 |
|
NM_206933.3(USH2A):c.14017T>C (p.Tyr4673His)
|
rs1040917329 |
|
NM_206933.3(USH2A):c.14131C>T (p.Gln4711Ter)
|
rs747063294 |
|
NM_206933.3(USH2A):c.14139_14152del (p.Trp4713fs)
|
rs1553250416 |
|
NM_206933.3(USH2A):c.14204C>G (p.Pro4735Arg)
|
rs1333608275 |
|
NM_206933.3(USH2A):c.14243C>T (p.Ser4748Phe)
|
rs527236126 |
|
NM_206933.3(USH2A):c.14276G>A (p.Gly4759Glu)
|
rs112459877 |
|
NM_206933.3(USH2A):c.14344-1G>A
|
rs919142559 |
|
NM_206933.3(USH2A):c.14384T>G (p.Leu4795Arg)
|
rs199851839 |
|
NM_206933.3(USH2A):c.14402_14403del (p.Tyr4801fs)
|
rs1553250192 |
|
NM_206933.3(USH2A):c.14419G>A (p.Ala4807Thr)
|
rs534656527 |
|
NM_206933.3(USH2A):c.14424C>A (p.Cys4808Ter)
|
rs1553250184 |
|
NM_206933.3(USH2A):c.14426C>T (p.Thr4809Ile)
|
rs770553471 |
|
NM_206933.3(USH2A):c.14570G>C (p.Gly4857Ala)
|
rs749889050 |
|
NM_206933.3(USH2A):c.14582+1G>C
|
rs1553250150 |
|
NM_206933.3(USH2A):c.14679del (p.Ala4894fs)
|
rs1553250077 |
|
NM_206933.3(USH2A):c.14791+2T>A
|
rs1553250050 |
|
NM_206933.3(USH2A):c.1481A>G (p.Tyr494Cys)
|
rs898430789 |
|
NM_206933.3(USH2A):c.14894_14915del (p.Val4965fs)
|
rs1553249452 |
|
NM_206933.3(USH2A):c.14914C>T (p.Arg4972Cys)
|
rs766759858 |
|
NM_206933.3(USH2A):c.14965_14968dup (p.Thr4990fs)
|
rs781625683 |
|
NM_206933.3(USH2A):c.14969-1G>A
|
rs1553249311 |
|
NM_206933.3(USH2A):c.14970_14972CTT[1] (p.Phe4993del)
|
rs1553249310 |
|
NM_206933.3(USH2A):c.14977_14978del (p.Phe4993fs)
|
rs747160949 |
|
NM_206933.3(USH2A):c.14995A>G (p.Thr4999Ala)
|
rs1553249303 |
|
NM_206933.3(USH2A):c.15017C>T (p.Thr5006Met)
|
rs757676723 |
|
NM_206933.3(USH2A):c.15037_15043del (p.Thr5013fs)
|
rs1553249294 |
|
NM_206933.3(USH2A):c.15052+1G>A
|
rs1553249290 |
|
NM_206933.3(USH2A):c.15115_15117del (p.Ser5039del)
|
rs1553248836 |
|
NM_206933.3(USH2A):c.15147_15160del (p.Met5049fs)
|
rs1553248832 |
|
NM_206933.3(USH2A):c.15178T>C (p.Ser5060Pro)
|
rs752377040 |
|
NM_206933.3(USH2A):c.15200del (p.Ile5067fs)
|
rs1295968274 |
|
NM_206933.3(USH2A):c.15233C>G (p.Pro5078Arg)
|
rs527236122 |
|
NM_206933.3(USH2A):c.15297+3A>G
|
rs57754754 |
|
NM_206933.3(USH2A):c.15298-1176A>G
|
rs144467375 |
|
NM_206933.3(USH2A):c.15298-18_15301dup
|
rs1553248238 |
|
NM_206933.3(USH2A):c.15322del (p.Arg5108fs)
|
rs1553248234 |
|
NM_206933.3(USH2A):c.15331_15333del (p.Thr5111del)
|
rs766970587 |
|
NM_206933.3(USH2A):c.15380C>T (p.Pro5127Leu)
|
rs201513512 |
|
NM_206933.3(USH2A):c.15380del (p.Pro5127fs)
|
rs1553248216 |
|
NM_206933.3(USH2A):c.15412C>T (p.Gln5138Ter)
|
rs763463859 |
|
NM_206933.3(USH2A):c.1541T>C (p.Ile514Thr)
|
rs768813865 |
|
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile)
|
rs111033269 |
|
NM_206933.3(USH2A):c.15494C>G (p.Ala5165Gly)
|
rs146892520 |
|
NM_206933.3(USH2A):c.1550G>C (p.Arg517Thr)
|
rs1393503590 |
|
NM_206933.3(USH2A):c.15562A>G (p.Ser5188Gly)
|
rs58257972 |
|
NM_206933.3(USH2A):c.15577G>T (p.Glu5193Ter)
|
rs1365989569 |
|
NM_206933.3(USH2A):c.15577del (p.Glu5193fs)
|
rs1553313073 |
|
NM_206933.3(USH2A):c.1558del (p.Cys520fs)
|
rs878853410 |
|
NM_206933.3(USH2A):c.1571C>T (p.Ala524Val)
|
rs772624410 |
|
NM_206933.3(USH2A):c.1678C>G (p.Pro560Ala)
|
rs147509797 |
|
NM_206933.3(USH2A):c.1724G>A (p.Cys575Tyr)
|
rs483353054 |
|
NM_206933.3(USH2A):c.1724G>T (p.Cys575Phe)
|
rs483353054 |
|
NM_206933.3(USH2A):c.1729T>C (p.Cys577Arg)
|
rs1553327470 |
|
NM_206933.3(USH2A):c.1808G>A (p.Gly603Glu)
|
rs1427232199 |
|
NM_206933.3(USH2A):c.1859G>T (p.Cys620Phe)
|
rs758571672 |
|
NM_206933.3(USH2A):c.187C>T (p.Arg63Ter)
|
rs781223647 |
|
NM_206933.3(USH2A):c.1935A>T (p.Thr645=)
|
rs146670690 |
|
NM_206933.3(USH2A):c.1972-1G>A
|
rs372927796 |
|
NM_206933.3(USH2A):c.1A>G (p.Met1Val)
|
rs924627806 |
|
NM_206933.3(USH2A):c.2023C>T (p.Gln675Ter)
|
rs868562952 |
|
NM_206933.3(USH2A):c.206G>T (p.Ser69Ile)
|
rs377254440 |
|
NM_206933.3(USH2A):c.2081G>A (p.Cys694Tyr)
|
rs137954284 |
|
NM_206933.3(USH2A):c.2167+5G>A
|
rs771583281 |
|
NM_206933.3(USH2A):c.2168-1G>C
|
rs748961218 |
|
NM_206933.3(USH2A):c.2168-2A>G
|
rs993185407 |
|
NM_206933.3(USH2A):c.232T>G (p.Phe78Val)
|
rs775094277 |
|
NM_206933.3(USH2A):c.236_239dup (p.Gln81fs)
|
rs1553258097 |
|
NM_206933.3(USH2A):c.240_241insGATC (p.Gln81fs)
|
rs587776538 |
|
NM_206933.3(USH2A):c.2414G>C (p.Gly805Ala)
|
rs587783023 |
|
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr)
|
rs111033282 |
|
NM_206933.3(USH2A):c.2610C>A (p.Cys870Ter)
|
rs767078782 |
|
NM_206933.3(USH2A):c.2617G>A (p.Gly873Arg)
|
rs1037325220 |
|
NM_206933.3(USH2A):c.2653C>T (p.His885Tyr)
|
rs746071929 |
|
NM_206933.3(USH2A):c.2776C>T (p.Arg926Cys)
|
rs749621457 |
|
NM_206933.3(USH2A):c.2797C>T (p.Gln933Ter)
|
rs1394737087 |
|
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662 |
|
NM_206933.3(USH2A):c.2809+1G>A
|
rs759433119 |
|
NM_206933.3(USH2A):c.2983C>T (p.Gln995Ter)
|
rs527236135 |
|
NM_206933.3(USH2A):c.2994-2A>G
|
rs1553316430 |
|
NM_206933.3(USH2A):c.2994A>T (p.Arg998Ser)
|
rs1553316429 |
|
NM_206933.3(USH2A):c.3086G>T (p.Gly1029Val)
|
rs768158580 |
|
NM_206933.3(USH2A):c.3158-2A>G
|
rs878853404 |
|
NM_206933.3(USH2A):c.3176C>T (p.Pro1059Leu)
|
rs547581739 |
|
NM_206933.3(USH2A):c.3187_3188del (p.Gln1063fs)
|
rs886039450 |
|
NM_206933.3(USH2A):c.3317-1G>A
|
rs1553313909 |
|
NM_206933.3(USH2A):c.3320T>G (p.Ile1107Ser)
|
rs146372677 |
|
NM_206933.3(USH2A):c.3507G>A (p.Trp1169Ter)
|
rs1064793745 |
|
NM_206933.3(USH2A):c.3543_3544AT[2] (p.Ile1183fs)
|
rs397518013 |
|
NM_206933.3(USH2A):c.3558del (p.Cys1186fs)
|
rs397518014 |
|
NM_206933.3(USH2A):c.3589del (p.Ser1197fs)
|
rs1553313810 |
|
NM_206933.3(USH2A):c.3724C>T (p.Pro1242Ser)
|
rs755849364 |
|
NM_206933.3(USH2A):c.3780T>C (p.His1260=)
|
rs759937489 |
|
NM_206933.3(USH2A):c.387del (p.Phe129fs)
|
rs1484339054 |
|
NM_206933.3(USH2A):c.3883C>T (p.Arg1295Ter)
|
rs764797292 |
|
NM_206933.3(USH2A):c.3884G>A (p.Arg1295Gln)
|
rs372993160 |
|
NM_206933.3(USH2A):c.3920C>G (p.Ser1307Ter)
|
rs756623509 |
|
NM_206933.3(USH2A):c.4027A>C (p.Asn1343His)
|
rs754634823 |
|
NM_206933.3(USH2A):c.4070C>T (p.Thr1357Met)
|
rs201190539 |
|
NM_206933.3(USH2A):c.4081+2T>C
|
rs1553313505 |
|
NM_206933.3(USH2A):c.4082-2A>G
|
rs1553313340 |
|
NM_206933.3(USH2A):c.4174G>T (p.Gly1392Ter)
|
rs1177198729 |
|
NM_206933.3(USH2A):c.419C>A (p.Pro140His)
|
rs759474177 |
|
NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter)
|
rs746551311 |
|
NM_206933.3(USH2A):c.4307C>T (p.Pro1436Leu)
|
rs1230923403 |
|
NM_206933.3(USH2A):c.4334_4335CT[2] (p.Cys1447fs)
|
rs111033367 |
|
NM_206933.3(USH2A):c.4397-1G>A
|
rs199982344 |
|
NM_206933.3(USH2A):c.43C>T (p.Gln15Ter)
|
rs1553258122 |
|
NM_206933.3(USH2A):c.4445C>T (p.Thr1482Ile)
|
rs200790812 |
|
NM_206933.3(USH2A):c.4474G>T (p.Glu1492Ter)
|
rs869312179 |
|
NM_206933.3(USH2A):c.449T>A (p.Leu150Ter)
|
rs1553258037 |
|
NM_206933.3(USH2A):c.4616C>T (p.Thr1539Ile)
|
rs758095361 |
|
NM_206933.3(USH2A):c.4618G>A (p.Asp1540Asn)
|
rs752238803 |
|
NM_2069 |