ClinVar Miner

List of variants in gene WASHC5 studied for Ritscher-Schinzel syndrome 1

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 364
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HGVS dbSNP gnomAD frequency
NM_014846.4(WASHC5):c.2770+18_2770+19insG rs11370883 0.99994
NM_014846.4(WASHC5):c.979-20C>T rs12546285 0.18463
NM_014846.4(WASHC5):c.187-3C>T rs16900368 0.13363
NM_014846.4(WASHC5):c.417+11A>G rs2384917 0.13320
NM_014846.4(WASHC5):c.1764+12A>G rs3765213 0.11313
NM_014846.4(WASHC5):c.186+17G>A rs59134934 0.03280
NM_014846.4(WASHC5):c.1408+7A>G rs16900312 0.02845
NM_014846.4(WASHC5):c.1151-8G>A rs16900335 0.02839
NM_014846.4(WASHC5):c.1245A>G (p.Leu415=) rs10429323 0.02837
NM_014846.4(WASHC5):c.597A>G (p.Pro199=) rs7812319 0.02380
NM_014846.4(WASHC5):c.867A>C (p.Val289=) rs79464415 0.00491
NM_014846.4(WASHC5):c.2100G>A (p.Val700=) rs148936723 0.00357
NM_014846.4(WASHC5):c.617A>G (p.Asn206Ser) rs150026441 0.00235
NM_014846.4(WASHC5):c.2771-7T>C rs142685897 0.00181
NM_014846.4(WASHC5):c.1818C>T (p.Pro606=) rs140063111 0.00156
NM_014846.4(WASHC5):c.2485C>T (p.Leu829=) rs80242901 0.00128
NM_014846.4(WASHC5):c.655G>A (p.Glu219Lys) rs143719918 0.00127
NM_014846.4(WASHC5):c.1346G>A (p.Arg449Gln) rs202165114 0.00108
NM_014846.4(WASHC5):c.2199+5C>G rs149763012 0.00100
NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu) rs72720524 0.00098
NM_014846.4(WASHC5):c.1187A>G (p.Lys396Arg) rs142423043 0.00086
NM_014846.4(WASHC5):c.1029A>G (p.Gln343=) rs140523354 0.00083
NM_014846.4(WASHC5):c.1605C>T (p.Ile535=) rs143654828 0.00080
NM_014846.4(WASHC5):c.732G>A (p.Pro244=) rs146320386 0.00079
NM_014846.4(WASHC5):c.3181+4C>T rs372154199 0.00073
NM_014846.4(WASHC5):c.316A>G (p.Ile106Val) rs142907217 0.00053
NM_014846.4(WASHC5):c.2668-19C>T rs368313044 0.00038
NM_014846.4(WASHC5):c.1945A>G (p.Ile649Val) rs774897141 0.00031
NM_014846.4(WASHC5):c.12T>C (p.Phe4=) rs202120400 0.00028
NM_014846.4(WASHC5):c.2422A>G (p.Ile808Val) rs144507279 0.00024
NM_014846.4(WASHC5):c.2017-13T>C rs74458977 0.00021
NM_014846.4(WASHC5):c.1178G>A (p.Arg393His) rs151298198 0.00016
NM_014846.4(WASHC5):c.2199+4C>A rs145721086 0.00016
NM_014846.4(WASHC5):c.555T>C (p.Asp185=) rs145934920 0.00016
NM_014846.4(WASHC5):c.405A>G (p.Gly135=) rs529518868 0.00013
NM_014846.4(WASHC5):c.1217A>G (p.Asn406Ser) rs200456170 0.00012
NM_014846.4(WASHC5):c.187-6T>C rs200227798 0.00012
NM_014846.4(WASHC5):c.2332A>G (p.Ile778Val) rs146623998 0.00012
NM_014846.4(WASHC5):c.2829G>A (p.Ala943=) rs369339497 0.00012
NM_014846.4(WASHC5):c.1007G>C (p.Arg336Thr) rs150430170 0.00011
NM_014846.4(WASHC5):c.2098-13G>A rs375720047 0.00011
NM_014846.4(WASHC5):c.552C>T (p.Asp184=) rs140203497 0.00011
NM_014846.4(WASHC5):c.639G>C (p.Gln213His) rs141234822 0.00011
NM_014846.4(WASHC5):c.122G>A (p.Arg41Lys) rs200850741 0.00009
NM_014846.4(WASHC5):c.1942G>A (p.Asp648Asn) rs758919422 0.00009
NM_014846.4(WASHC5):c.2139G>A (p.Glu713=) rs201066199 0.00009
NM_014846.4(WASHC5):c.418-9T>G rs760094704 0.00009
NM_014846.4(WASHC5):c.1522-10T>A rs200283018 0.00007
NM_014846.4(WASHC5):c.2580C>T (p.Leu860=) rs375214976 0.00007
NM_014846.4(WASHC5):c.451C>T (p.Leu151=) rs6470336 0.00007
NM_014846.4(WASHC5):c.1550A>G (p.Asn517Ser) rs368546546 0.00006
NM_014846.4(WASHC5):c.18C>T (p.Ala6=) rs17852424 0.00006
NM_014846.4(WASHC5):c.2151C>T (p.Arg717=) rs766145087 0.00006
NM_014846.4(WASHC5):c.2850+4T>C rs770743674 0.00006
NM_014846.4(WASHC5):c.2972T>C (p.Ile991Thr) rs142883794 0.00006
NM_014846.4(WASHC5):c.1866T>C (p.Tyr622=) rs202216835 0.00005
NM_014846.4(WASHC5):c.2013C>T (p.Tyr671=) rs769262318 0.00005
NM_014846.4(WASHC5):c.2575C>T (p.Arg859Cys) rs202015963 0.00005
NM_014846.4(WASHC5):c.1576G>A (p.Asp526Asn) rs766834356 0.00004
NM_014846.4(WASHC5):c.1830C>T (p.Ser610=) rs190138661 0.00004
NM_014846.4(WASHC5):c.2076G>A (p.Thr692=) rs746121315 0.00004
NM_014846.4(WASHC5):c.2238G>A (p.Ala746=) rs376307168 0.00004
NM_014846.4(WASHC5):c.2489G>A (p.Arg830Gln) rs749703625 0.00004
NM_014846.4(WASHC5):c.2533A>G (p.Thr845Ala) rs553869211 0.00004
NM_014846.4(WASHC5):c.2716C>G (p.Gln906Glu) rs757250722 0.00004
NM_014846.4(WASHC5):c.2752C>T (p.Pro918Ser) rs367744328 0.00004
NM_014846.4(WASHC5):c.3103C>T (p.Arg1035Cys) rs758843087 0.00004
NM_014846.4(WASHC5):c.439G>A (p.Gly147Arg) rs979115163 0.00004
NM_014846.4(WASHC5):c.612A>G (p.Pro204=) rs376240904 0.00004
NM_014846.4(WASHC5):c.875T>C (p.Ile292Thr) rs1218811554 0.00004
NM_014846.4(WASHC5):c.1094G>C (p.Cys365Ser) rs756457820 0.00003
NM_014846.4(WASHC5):c.1173C>A (p.Arg391=) rs1344658074 0.00003
NM_014846.4(WASHC5):c.1642A>G (p.Met548Val) rs138176168 0.00003
NM_014846.4(WASHC5):c.1779C>T (p.Leu593=) rs147434450 0.00003
NM_014846.4(WASHC5):c.2257C>T (p.Arg753Cys) rs780719370 0.00003
NM_014846.4(WASHC5):c.2426C>G (p.Pro809Arg) rs747787888 0.00003
NM_014846.4(WASHC5):c.777C>T (p.Tyr259=) rs781517421 0.00003
NM_014846.4(WASHC5):c.1210C>T (p.Arg404Trp) rs758878691 0.00002
NM_014846.4(WASHC5):c.1589T>C (p.Phe530Ser) rs184557946 0.00002
NM_014846.4(WASHC5):c.161T>C (p.Ile54Thr) rs199936194 0.00002
NM_014846.4(WASHC5):c.1668C>T (p.Phe556=) rs199725572 0.00002
NM_014846.4(WASHC5):c.1689-4A>G rs777297323 0.00002
NM_014846.4(WASHC5):c.1968G>A (p.Leu656=) rs750122277 0.00002
NM_014846.4(WASHC5):c.2025G>A (p.Lys675=) rs769221945 0.00002
NM_014846.4(WASHC5):c.2380-6T>C rs375887732 0.00002
NM_014846.4(WASHC5):c.3356C>G (p.Pro1119Arg) rs202184316 0.00002
NM_014846.4(WASHC5):c.417+9T>C rs758034244 0.00002
NM_014846.4(WASHC5):c.625G>A (p.Glu209Lys) rs565980279 0.00002
NM_014846.4(WASHC5):c.1211G>A (p.Arg404Gln) rs753133551 0.00001
NM_014846.4(WASHC5):c.1235A>G (p.Gln412Arg) rs1328488239 0.00001
NM_014846.4(WASHC5):c.1297T>C (p.Ser433Pro) rs766713240 0.00001
NM_014846.4(WASHC5):c.1408+4A>C rs780340651 0.00001
NM_014846.4(WASHC5):c.143A>G (p.Gln48Arg) rs1357562835 0.00001
NM_014846.4(WASHC5):c.1521+10C>T rs760233617 0.00001
NM_014846.4(WASHC5):c.1611C>G (p.Thr537=) rs1375065582 0.00001
NM_014846.4(WASHC5):c.1650C>T (p.Ile550=) rs780912744 0.00001
NM_014846.4(WASHC5):c.166T>C (p.Phe56Leu) rs751591590 0.00001
NM_014846.4(WASHC5):c.1688+10G>A rs200755877 0.00001
NM_014846.4(WASHC5):c.1728A>G (p.Pro576=) rs767965256 0.00001
NM_014846.4(WASHC5):c.1785G>T (p.Leu595=) rs1044612540 0.00001
NM_014846.4(WASHC5):c.2008C>T (p.Arg670Ter) rs762401591 0.00001
NM_014846.4(WASHC5):c.2032C>T (p.His678Tyr) rs1403229183 0.00001
NM_014846.4(WASHC5):c.2098-6A>G rs984555140 0.00001
NM_014846.4(WASHC5):c.2199+14A>G rs754889043 0.00001
NM_014846.4(WASHC5):c.2379+8A>T rs1198647443 0.00001
NM_014846.4(WASHC5):c.2505-1G>C rs953586472 0.00001
NM_014846.4(WASHC5):c.2627T>C (p.Leu876Ser) rs1289915533 0.00001
NM_014846.4(WASHC5):c.2769C>T (p.Val923=) rs545318648 0.00001
NM_014846.4(WASHC5):c.2846T>C (p.Met949Thr) rs1182525812 0.00001
NM_014846.4(WASHC5):c.2955-10C>G rs1388469388 0.00001
NM_014846.4(WASHC5):c.3104G>A (p.Arg1035His) rs761500521 0.00001
NM_014846.4(WASHC5):c.3118C>G (p.Pro1040Ala) rs775752911 0.00001
NM_014846.4(WASHC5):c.3121A>G (p.Ile1041Val) rs1184928685 0.00001
NM_014846.4(WASHC5):c.3145G>A (p.Ala1049Thr) rs375664674 0.00001
NM_014846.4(WASHC5):c.348C>T (p.Leu116=) rs1817292048 0.00001
NM_014846.4(WASHC5):c.435A>G (p.Leu145=) rs145842027 0.00001
NM_014846.4(WASHC5):c.511C>T (p.Arg171Ter) rs1462319941 0.00001
NM_014846.4(WASHC5):c.518+12C>T rs776771436 0.00001
NM_014846.4(WASHC5):c.654C>T (p.Asn218=) rs144085283 0.00001
NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter) rs754463353 0.00001
NM_014846.4(WASHC5):c.735G>C (p.Glu245Asp) rs765982075 0.00001
NM_014846.4(WASHC5):c.863G>C (p.Trp288Ser) rs1019440298 0.00001
NM_014846.4(WASHC5):c.864+5G>C rs772529893 0.00001
NM_014846.4(WASHC5):c.872G>A (p.Ser291Asn) rs753529606 0.00001
NM_014846.4(WASHC5):c.885G>A (p.Gly295=) rs1435894101 0.00001
NM_014846.4(WASHC5):c.975A>G (p.Glu325=) rs773768832 0.00001
NC_000008.10:g.(?_126049459)_(126075913_?)del
NC_000008.10:g.(?_126079753)_(126096155_?)del
NC_000008.11:g.(?_125024607)_(125044104_?)del
NM_014846.4(WASHC5):c.1005A>G (p.Glu335=)
NM_014846.4(WASHC5):c.1024C>T (p.Gln342Ter)
NM_014846.4(WASHC5):c.1037AAG[1] (p.Glu347del) rs764020658
NM_014846.4(WASHC5):c.1060A>G (p.Met354Val)
NM_014846.4(WASHC5):c.1074T>C (p.Asn358=)
NM_014846.4(WASHC5):c.1089G>A (p.Leu363=)
NM_014846.4(WASHC5):c.1102_1103del (p.Asp368fs)
NM_014846.4(WASHC5):c.1121G>A (p.Arg374Gln)
NM_014846.4(WASHC5):c.1133T>G (p.Leu378Arg) rs758822672
NM_014846.4(WASHC5):c.1136A>G (p.His379Arg)
NM_014846.4(WASHC5):c.113C>G (p.Ala38Gly)
NM_014846.4(WASHC5):c.1140A>G (p.Thr380=)
NM_014846.4(WASHC5):c.1151-16C>T
NM_014846.4(WASHC5):c.1151-17A>T
NM_014846.4(WASHC5):c.1151-2A>G rs1563627853
NM_014846.4(WASHC5):c.1163A>G (p.Asn388Ser)
NM_014846.4(WASHC5):c.1166A>G (p.Asn389Ser)
NM_014846.4(WASHC5):c.1172G>A (p.Arg391His)
NM_014846.4(WASHC5):c.117G>A (p.Val39=)
NM_014846.4(WASHC5):c.1188G>C (p.Lys396Asn)
NM_014846.4(WASHC5):c.1205A>G (p.Asp402Gly)
NM_014846.4(WASHC5):c.1278+13G>T
NM_014846.4(WASHC5):c.1278+9A>G
NM_014846.4(WASHC5):c.1340C>T (p.Ser447Leu) rs886062654
NM_014846.4(WASHC5):c.1341G>A (p.Ser447=)
NM_014846.4(WASHC5):c.1341G>T (p.Ser447=) rs763975296
NM_014846.4(WASHC5):c.1345C>A (p.Arg449=) rs886062653
NM_014846.4(WASHC5):c.1368del (p.Ser458fs)
NM_014846.4(WASHC5):c.136G>A (p.Ala46Thr)
NM_014846.4(WASHC5):c.1378G>T (p.Val460Leu)
NM_014846.4(WASHC5):c.1409-8A>C rs878854986
NM_014846.4(WASHC5):c.1413C>T (p.Asn471=)
NM_014846.4(WASHC5):c.1424G>A (p.Trp475Ter) rs1030054011
NM_014846.4(WASHC5):c.1450T>C (p.Leu484=)
NM_014846.4(WASHC5):c.1473T>C (p.Ser491=)
NM_014846.4(WASHC5):c.1481C>T (p.Ala494Val)
NM_014846.4(WASHC5):c.1504A>T (p.Ile502Leu)
NM_014846.4(WASHC5):c.1510G>A (p.Ala504Thr)
NM_014846.4(WASHC5):c.1522-20A>G
NM_014846.4(WASHC5):c.1540T>G (p.Leu514Val)
NM_014846.4(WASHC5):c.1543G>C (p.Glu515Gln)
NM_014846.4(WASHC5):c.1557A>G (p.Gln519=) rs1374104992
NM_014846.4(WASHC5):c.1578T>C (p.Asp526=) rs1340926359
NM_014846.4(WASHC5):c.1580C>T (p.Thr527Ile)
NM_014846.4(WASHC5):c.1583G>A (p.Arg528Gln)
NM_014846.4(WASHC5):c.1651G>A (p.Val551Ile)
NM_014846.4(WASHC5):c.1688+10del rs757113799
NM_014846.4(WASHC5):c.1688+5T>G
NM_014846.4(WASHC5):c.1689-19G>A
NM_014846.4(WASHC5):c.1705C>G (p.Gln569Glu) rs1816510758
NM_014846.4(WASHC5):c.1747A>G (p.Arg583Gly) rs761801345
NM_014846.4(WASHC5):c.1749A>C (p.Arg583Ser)
NM_014846.4(WASHC5):c.1764+14A>G
NM_014846.4(WASHC5):c.1765-19T>A
NM_014846.4(WASHC5):c.1765-3dup
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) rs1554593901
NM_014846.4(WASHC5):c.1772C>T (p.Ser591Phe) rs1554593899
NM_014846.4(WASHC5):c.1788C>G (p.Pro596=)
NM_014846.4(WASHC5):c.1850G>T (p.Gly617Val)
NM_014846.4(WASHC5):c.1857G>C (p.Leu619Phe) rs80338866
NM_014846.4(WASHC5):c.1859T>C (p.Val620Ala)
NM_014846.4(WASHC5):c.186+14A>C
NM_014846.4(WASHC5):c.186+16A>C
NM_014846.4(WASHC5):c.186+1G>C
NM_014846.4(WASHC5):c.186+3A>G
NM_014846.4(WASHC5):c.187-18T>C
NM_014846.4(WASHC5):c.187-19_187-18del
NM_014846.4(WASHC5):c.187-5C>A
NM_014846.4(WASHC5):c.187-6dup rs745362878
NM_014846.4(WASHC5):c.1875+14C>T
NM_014846.4(WASHC5):c.1875+3A>C
NM_014846.4(WASHC5):c.1876-11T>C
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe) rs80338867
NM_014846.4(WASHC5):c.187G>A (p.Gly63Ser)
NM_014846.4(WASHC5):c.1883A>G (p.Gln628Arg) rs1816420898
NM_014846.4(WASHC5):c.1885A>T (p.Ile629Phe) rs1277499447
NM_014846.4(WASHC5):c.1892C>T (p.Pro631Leu) rs1586359734
NM_014846.4(WASHC5):c.1901T>A (p.Met634Lys) rs768146940
NM_014846.4(WASHC5):c.193G>A (p.Glu65Lys)
NM_014846.4(WASHC5):c.1941C>T (p.His647=)
NM_014846.4(WASHC5):c.1948A>G (p.Ile650Val) rs1188960621
NM_014846.4(WASHC5):c.1956G>T (p.Val652=)
NM_014846.4(WASHC5):c.1960A>G (p.Thr654Ala)
NM_014846.4(WASHC5):c.1963C>T (p.Arg655Cys)
NM_014846.4(WASHC5):c.1972A>G (p.Lys658Glu)
NM_014846.4(WASHC5):c.1991A>C (p.Tyr664Ser)
NM_014846.4(WASHC5):c.2003G>T (p.Gly668Val) rs763639768
NM_014846.4(WASHC5):c.2014G>A (p.Glu672Lys)
NM_014846.4(WASHC5):c.2016+10C>G rs1260941212
NM_014846.4(WASHC5):c.2016+20T>C
NM_014846.4(WASHC5):c.2016+6G>C
NM_014846.4(WASHC5):c.2017-16T>A
NM_014846.4(WASHC5):c.2017-20C>A rs759179193
NM_014846.4(WASHC5):c.2034T>C (p.His678=)
NM_014846.4(WASHC5):c.2042C>A (p.Ser681Tyr)
NM_014846.4(WASHC5):c.204A>G (p.Glu68=)
NM_014846.4(WASHC5):c.2052T>G (p.Thr684=) rs886062652
NM_014846.4(WASHC5):c.2086G>A (p.Gly696Ser) rs1060502725
NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp) rs397515564
NM_014846.4(WASHC5):c.2090TCA[1] (p.Ile698del) rs1554593551
NM_014846.4(WASHC5):c.2097+3A>G
NM_014846.4(WASHC5):c.2097+6A>G
NM_014846.4(WASHC5):c.2098-5C>G
NM_014846.4(WASHC5):c.2098G>A (p.Val700Met) rs777613204
NM_014846.4(WASHC5):c.210del (p.Lys70fs)
NM_014846.4(WASHC5):c.2119G>C (p.Glu707Gln)
NM_014846.4(WASHC5):c.2137G>A (p.Glu713Lys) rs878854987
NM_014846.4(WASHC5):c.2158T>G (p.Phe720Val) rs1586352875
NM_014846.4(WASHC5):c.2190T>C (p.Pro730=) rs955321507
NM_014846.4(WASHC5):c.2199+15_2199+16delinsTG
NM_014846.4(WASHC5):c.2199+6C>T
NM_014846.4(WASHC5):c.2200-18G>A
NM_014846.4(WASHC5):c.2238G>T (p.Ala746=) rs376307168
NM_014846.4(WASHC5):c.2255A>G (p.His752Arg)
NM_014846.4(WASHC5):c.2258G>A (p.Arg753His)
NM_014846.4(WASHC5):c.2273T>C (p.Ile758Thr)
NM_014846.4(WASHC5):c.232C>T (p.Gln78Ter) rs1586390087
NM_014846.4(WASHC5):c.234G>A (p.Gln78=)
NM_014846.4(WASHC5):c.2410A>G (p.Thr804Ala) rs1419129064
NM_014846.4(WASHC5):c.2429A>T (p.Lys810Met) rs780468544
NM_014846.4(WASHC5):c.2430G>A (p.Lys810=) rs140742485
NM_014846.4(WASHC5):c.2430G>C (p.Lys810Asn) rs140742485
NM_014846.4(WASHC5):c.2438_2439del (p.Pro813fs)
NM_014846.4(WASHC5):c.2468G>A (p.Arg823Gln)
NM_014846.4(WASHC5):c.2491A>T (p.Ile831Phe)
NM_014846.4(WASHC5):c.2504+5G>A
NM_014846.4(WASHC5):c.2506A>G (p.Met836Val) rs2130023977
NM_014846.4(WASHC5):c.2521G>C (p.Asp841His) rs2130023882
NM_014846.4(WASHC5):c.2532C>T (p.Asn844=) rs760598224
NM_014846.4(WASHC5):c.2545A>G (p.Met849Val) rs1355658998
NM_014846.4(WASHC5):c.2562A>G (p.Glu854=)
NM_014846.4(WASHC5):c.2566A>G (p.Thr856Ala)
NM_014846.4(WASHC5):c.2572A>G (p.Ser858Gly)
NM_014846.4(WASHC5):c.2595_2599del (p.Gln865fs)
NM_014846.4(WASHC5):c.2635C>A (p.Leu879Ile)
NM_014846.4(WASHC5):c.2647A>G (p.Met883Val)
NM_014846.4(WASHC5):c.2654T>C (p.Val885Ala)
NM_014846.4(WASHC5):c.265A>G (p.Ile89Val)
NM_014846.4(WASHC5):c.2668-18G>A
NM_014846.4(WASHC5):c.2671T>G (p.Phe891Val)
NM_014846.4(WASHC5):c.26A>G (p.Asn9Ser)
NM_014846.4(WASHC5):c.2711C>T (p.Thr904Ile)
NM_014846.4(WASHC5):c.2733C>T (p.Thr911=)
NM_014846.4(WASHC5):c.2734C>T (p.Leu912Phe)
NM_014846.4(WASHC5):c.2770+6T>C rs2130019658
NM_014846.4(WASHC5):c.2771-17A>G
NM_014846.4(WASHC5):c.2789A>C (p.Tyr930Ser) rs1815970512
NM_014846.4(WASHC5):c.2794T>A (p.Ser932Thr)
NM_014846.4(WASHC5):c.2833C>G (p.Leu945Val)
NM_014846.4(WASHC5):c.2836G>A (p.Glu946Lys)
NM_014846.4(WASHC5):c.2842A>G (p.Ile948Val)
NM_014846.4(WASHC5):c.2849A>G (p.Lys950Arg) rs1815967070
NM_014846.4(WASHC5):c.2851-18del
NM_014846.4(WASHC5):c.2860A>T (p.Met954Leu)
NM_014846.4(WASHC5):c.2904T>G (p.Ser968=)
NM_014846.4(WASHC5):c.2928G>C (p.Leu976=)
NM_014846.4(WASHC5):c.292G>T (p.Ala98Ser)
NM_014846.4(WASHC5):c.2938C>T (p.Leu980=)
NM_014846.4(WASHC5):c.2944A>G (p.Asn982Asp)
NM_014846.4(WASHC5):c.2949C>T (p.Leu983=)
NM_014846.4(WASHC5):c.2954+3_2954+4delinsCG
NM_014846.4(WASHC5):c.2954+3_2954+4delinsGC
NM_014846.4(WASHC5):c.2955-7C>T rs767591968
NM_014846.4(WASHC5):c.2971A>G (p.Ile991Val) rs1554591077
NM_014846.4(WASHC5):c.2973T>G (p.Ile991Met)
NM_014846.4(WASHC5):c.3024_3025del (p.Leu1009fs) rs765926045
NM_014846.4(WASHC5):c.3047A>G (p.Tyr1016Cys) rs767608029
NM_014846.4(WASHC5):c.3065T>C (p.Ile1022Thr) rs150819213
NM_014846.4(WASHC5):c.3084+18A>G
NM_014846.4(WASHC5):c.3085-8C>T
NM_014846.4(WASHC5):c.3129C>G (p.Asn1043Lys)
NM_014846.4(WASHC5):c.3144C>T (p.Ile1048=)
NM_014846.4(WASHC5):c.3146C>T (p.Ala1049Val)
NM_014846.4(WASHC5):c.3160C>G (p.Leu1054Val)
NM_014846.4(WASHC5):c.3163C>T (p.Gln1055Ter)
NM_014846.4(WASHC5):c.3165A>G (p.Gln1055=) rs777978845
NM_014846.4(WASHC5):c.332+11A>G rs755037747
NM_014846.4(WASHC5):c.332+4T>C
NM_014846.4(WASHC5):c.333-19A>G rs2384916
NM_014846.4(WASHC5):c.333-19A>T
NM_014846.4(WASHC5):c.333-20_333-19inv
NM_014846.4(WASHC5):c.3375C>T (p.Ala1125=) rs2129947881
NM_014846.4(WASHC5):c.3400C>T (p.Arg1134Trp)
NM_014846.4(WASHC5):c.3423+16T>A
NM_014846.4(WASHC5):c.3424-19_3424-15del
NM_014846.4(WASHC5):c.3450C>G (p.Phe1150Leu)
NM_014846.4(WASHC5):c.350A>G (p.Asn117Ser)
NM_014846.4(WASHC5):c.375C>G (p.Thr125=)
NM_014846.4(WASHC5):c.408A>G (p.Lys136=)
NM_014846.4(WASHC5):c.413T>G (p.Leu138Arg) rs1563636568
NM_014846.4(WASHC5):c.417+9T>G
NM_014846.4(WASHC5):c.420T>A (p.Cys140Ter) rs148562491
NM_014846.4(WASHC5):c.420T>G (p.Cys140Trp)
NM_014846.4(WASHC5):c.445A>G (p.Met149Val) rs1817270519
NM_014846.4(WASHC5):c.450A>G (p.Leu150=) rs778468473
NM_014846.4(WASHC5):c.498G>A (p.Leu166=) rs1586388281
NM_014846.4(WASHC5):c.50G>C (p.Arg17Thr)
NM_014846.4(WASHC5):c.518+13T>C
NM_014846.4(WASHC5):c.526C>T (p.Arg176Ter) rs1362286755
NM_014846.4(WASHC5):c.541T>A (p.Ser181Thr) rs1817146560
NM_014846.4(WASHC5):c.572G>A (p.Arg191Gln) rs1586384678
NM_014846.4(WASHC5):c.633T>G (p.Tyr211Ter)
NM_014846.4(WASHC5):c.656A>G (p.Glu219Gly)
NM_014846.4(WASHC5):c.666C>T (p.Ile222=) rs367837906
NM_014846.4(WASHC5):c.672G>T (p.Met224Ile)
NM_014846.4(WASHC5):c.683G>A (p.Arg228Gln)
NM_014846.4(WASHC5):c.689G>A (p.Arg230Lys) rs1817137048
NM_014846.4(WASHC5):c.704dup (p.Tyr235Ter) rs1563633906
NM_014846.4(WASHC5):c.711+16A>G
NM_014846.4(WASHC5):c.712-13C>G
NM_014846.4(WASHC5):c.712-15G>A
NM_014846.4(WASHC5):c.712-16C>T
NM_014846.4(WASHC5):c.712-7A>G
NM_014846.4(WASHC5):c.720G>A (p.Ala240=) rs758215702
NM_014846.4(WASHC5):c.733G>C (p.Glu245Gln)
NM_014846.4(WASHC5):c.740G>A (p.Arg247His)
NM_014846.4(WASHC5):c.746C>G (p.Thr249Arg)
NM_014846.4(WASHC5):c.747A>T (p.Thr249=)
NM_014846.4(WASHC5):c.778G>A (p.Val260Met)
NM_014846.4(WASHC5):c.786C>T (p.Leu262=)
NM_014846.4(WASHC5):c.81T>C (p.Ala27=)
NM_014846.4(WASHC5):c.860A>G (p.Asn287Ser) rs1020805660
NM_014846.4(WASHC5):c.864+9T>G
NM_014846.4(WASHC5):c.880A>C (p.Met294Leu) rs755946575
NM_014846.4(WASHC5):c.880A>G (p.Met294Val)
NM_014846.4(WASHC5):c.884G>A (p.Gly295Glu)
NM_014846.4(WASHC5):c.88T>C (p.Leu30=)
NM_014846.4(WASHC5):c.913G>T (p.Glu305Ter) rs377540152
NM_014846.4(WASHC5):c.925G>A (p.Ala309Thr)
NM_014846.4(WASHC5):c.93A>G (p.Arg31=) rs2130220935
NM_014846.4(WASHC5):c.96C>G (p.Leu32=) rs1060504698
NM_014846.4(WASHC5):c.978+15G>A
NM_014846.4(WASHC5):c.978+20C>T
NM_014846.4(WASHC5):c.979-6G>A
NM_014846.4(WASHC5):c.990T>C (p.Tyr330=)

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