NM_024577.3(SH3TC2):c.*882G>A
|
rs775429372 |
NM_024577.3(SH3TC2):c.1000A>G (p.Met334Val)
|
rs139653980 |
NM_024577.3(SH3TC2):c.1002-5T>A
|
rs769711653 |
NM_024577.3(SH3TC2):c.1017C>T (p.Ala339=)
|
rs201779392 |
NM_024577.3(SH3TC2):c.1177+10G>A
|
rs139257109 |
NM_024577.3(SH3TC2):c.1178-1G>A
|
rs80338922 |
NM_024577.3(SH3TC2):c.1194T>C (p.Gly398=)
|
rs1432793 |
NM_024577.3(SH3TC2):c.1194_1195delinsCC (p.Phe399Leu)
|
rs1554121791 |
NM_024577.3(SH3TC2):c.1254G>T (p.Gln418His)
|
rs146997517 |
NM_024577.3(SH3TC2):c.1285G>T (p.Glu429Ter)
|
rs111995807 |
NM_024577.3(SH3TC2):c.1298C>T (p.Ser433Leu)
|
rs200967041 |
NM_024577.3(SH3TC2):c.1299G>A (p.Ser433=)
|
rs140904010 |
NM_024577.3(SH3TC2):c.1318C>T (p.Arg440Cys)
|
rs768012192 |
NM_024577.3(SH3TC2):c.1342G>C (p.Asp448His)
|
rs587781252 |
NM_024577.3(SH3TC2):c.1350G>A (p.Pro450=)
|
rs17722227 |
NM_024577.3(SH3TC2):c.1378C>T (p.Gln460Ter)
|
rs1580901350 |
NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro)
|
rs146162276 |
NM_024577.3(SH3TC2):c.1384G>T (p.Glu462Ter)
|
rs749850181 |
NM_024577.3(SH3TC2):c.1402G>T (p.Ala468Ser)
|
rs6875902 |
NM_024577.3(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe)
|
rs863224780 |
NM_024577.3(SH3TC2):c.1403C>T (p.Ala468Val)
|
rs6874630 |
NM_024577.3(SH3TC2):c.1443C>T (p.Asp481=)
|
rs146666910 |
NM_024577.3(SH3TC2):c.1482C>T (p.Leu494=)
|
rs200665714 |
NM_024577.3(SH3TC2):c.1483A>G (p.Thr495Ala)
|
rs10077543 |
NM_024577.3(SH3TC2):c.1587T>G (p.Arg529=)
|
rs1432794 |
NM_024577.3(SH3TC2):c.1607G>A (p.Arg536Gln)
|
rs369977771 |
NM_024577.3(SH3TC2):c.1651T>C (p.Phe551Leu)
|
rs1554121720 |
NM_024577.3(SH3TC2):c.1721A>G (p.Asn574Ser)
|
rs201256776 |
NM_024577.3(SH3TC2):c.1767C>T (p.Ser589=)
|
rs139898175 |
NM_024577.3(SH3TC2):c.1768G>A (p.Ala590Thr)
|
rs149244124 |
NM_024577.3(SH3TC2):c.1814G>A (p.Arg605His)
|
rs186864272 |
NM_024577.3(SH3TC2):c.1839C>T (p.Leu613=)
|
rs182893450 |
NM_024577.3(SH3TC2):c.1842C>T (p.Asp614=)
|
rs138411915 |
NM_024577.3(SH3TC2):c.1862G>A (p.Arg621His)
|
rs143032801 |
NM_024577.3(SH3TC2):c.1894_1897delinsAAA (p.Glu632fs)
|
rs1580900758 |
NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys)
|
rs80338925 |
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys)
|
rs80338926 |
NM_024577.3(SH3TC2):c.1973G>A (p.Arg658His)
|
rs138040787 |
NM_024577.3(SH3TC2):c.1982T>C (p.Leu661Pro)
|
rs80338927 |
NM_024577.3(SH3TC2):c.1985T>C (p.Leu662Pro)
|
rs1580900642 |
NM_024577.3(SH3TC2):c.2087A>G (p.His696Arg)
|
rs17109261 |
NM_024577.3(SH3TC2):c.217_227delinsCCAGTAA (p.Ala73fs)
|
rs80338919 |
NM_024577.3(SH3TC2):c.2211_2213del (p.Cys737_Pro738delinsTer)
|
rs1580900438 |
NM_024577.3(SH3TC2):c.2235T>G (p.Ala745=)
|
rs78120278 |
NM_024577.3(SH3TC2):c.2257C>T (p.Arg753Trp)
|
rs530824367 |
NM_024577.3(SH3TC2):c.2273C>A (p.Ala758Asp)
|
rs200006756 |
NM_024577.3(SH3TC2):c.2304C>T (p.Leu768=)
|
rs140829706 |
NM_024577.3(SH3TC2):c.2322C>T (p.Asp774=)
|
rs17795193 |
NM_024577.3(SH3TC2):c.2385C>T (p.Ser795=)
|
rs145345364 |
NM_024577.3(SH3TC2):c.238G>A (p.Ala80Thr)
|
rs112507765 |
NM_024577.3(SH3TC2):c.2492G>A (p.Ser831Asn)
|
rs375034766 |
NM_024577.3(SH3TC2):c.2528G>T (p.Gly843Val)
|
rs1463859150 |
NM_024577.3(SH3TC2):c.2581C>T (p.Arg861Trp)
|
rs147490172 |
NM_024577.3(SH3TC2):c.2582G>A (p.Arg861Gln)
|
rs142971473 |
NM_024577.3(SH3TC2):c.2633C>A (p.Ala878Asp)
|
rs1580899932 |
NM_024577.3(SH3TC2):c.2642A>G (p.Asn881Ser)
|
rs80338930 |
NM_024577.3(SH3TC2):c.2642A>T (p.Asn881Ile)
|
rs80338930 |
NM_024577.3(SH3TC2):c.2674C>T (p.Gln892Ter)
|
rs757797985 |
NM_024577.3(SH3TC2):c.2691C>G (p.Asn897Lys)
|
rs73795753 |
NM_024577.3(SH3TC2):c.279+4A>G
|
rs371909418 |
NM_024577.3(SH3TC2):c.279G>A (p.Lys93=)
|
rs776221160 |
NM_024577.3(SH3TC2):c.280-5C>T
|
rs201937366 |
NM_024577.3(SH3TC2):c.2812C>T (p.His938Tyr)
|
rs144688852 |
NM_024577.3(SH3TC2):c.2873-14T>A
|
rs1580899613 |
NM_024577.3(SH3TC2):c.2873-18T>C
|
rs113514936 |
NM_024577.3(SH3TC2):c.28del (p.Glu10fs)
|
rs80338918 |
NM_024577.3(SH3TC2):c.2913C>T (p.Ser971=)
|
rs13436308 |
NM_024577.3(SH3TC2):c.2954A>G (p.Glu985Gly)
|
rs575937427 |
NM_024577.3(SH3TC2):c.2990G>A (p.Arg997Gln)
|
rs140307699 |
NM_024577.3(SH3TC2):c.3013G>T (p.Glu1005Ter)
|
rs147895061 |
NM_024577.3(SH3TC2):c.3127G>T (p.Ala1043Ser)
|
rs200819602 |
NM_024577.3(SH3TC2):c.3154C>T (p.Arg1052Ter)
|
rs370115218 |
NM_024577.3(SH3TC2):c.3160C>T (p.His1054Tyr)
|
rs769133498 |
NM_024577.3(SH3TC2):c.31C>T (p.Arg11Trp)
|
rs149762843 |
NM_024577.3(SH3TC2):c.3202C>T (p.Gln1068Ter)
|
rs774698284 |
NM_024577.3(SH3TC2):c.3233_3234delAG
|
rs1580889962 |
NM_024577.3(SH3TC2):c.3294C>T (p.Thr1098=)
|
rs193067884 |
NM_024577.3(SH3TC2):c.3303del (p.Arg1101fs)
|
rs864622664 |
NM_024577.3(SH3TC2):c.3315G>A (p.Val1105=)
|
rs375970910 |
NM_024577.3(SH3TC2):c.3321C>A (p.Tyr1107Ter)
|
rs1580889866 |
NM_024577.3(SH3TC2):c.3326G>C (p.Arg1109Pro)
|
rs80338935 |
NM_024577.3(SH3TC2):c.3332G>T (p.Gly1111Val)
|
rs200801053 |
NM_024577.3(SH3TC2):c.3362C>T (p.Ala1121Val)
|
rs115577291 |
NM_024577.3(SH3TC2):c.3379C>T (p.Arg1127Trp)
|
rs1580888993 |
NM_024577.3(SH3TC2):c.3380G>A (p.Arg1127Gln)
|
rs139192433 |
NM_024577.3(SH3TC2):c.3413G>A (p.Ser1138Asn)
|
rs150805608 |
NM_024577.3(SH3TC2):c.3472G>A (p.Val1158Ile)
|
rs55853803 |
NM_024577.3(SH3TC2):c.3479-8A>G
|
rs147800229 |
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys)
|
rs759785462 |
NM_024577.3(SH3TC2):c.3512G>T (p.Arg1171Leu)
|
rs200728983 |
NM_024577.3(SH3TC2):c.3550A>G (p.Met1184Val)
|
rs142451273 |
NM_024577.3(SH3TC2):c.3594A>C (p.Pro1198=)
|
rs6871030 |
NM_024577.3(SH3TC2):c.3594A>G (p.Pro1198=)
|
rs6871030 |
NM_024577.3(SH3TC2):c.3596G>A (p.Trp1199Ter)
|
rs761972717 |
NM_024577.3(SH3TC2):c.3611A>G (p.Lys1204Arg)
|
rs143436632 |
NM_024577.3(SH3TC2):c.3676-1G>A
|
rs1306229414 |
NM_024577.3(SH3TC2):c.3676-8G>A
|
rs772823083 |
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val)
|
rs146920285 |
NM_024577.3(SH3TC2):c.3723G>A (p.Ala1241=)
|
rs777895612 |
NM_024577.3(SH3TC2):c.3795G>C (p.Leu1265=)
|
rs144873879 |
NM_024577.3(SH3TC2):c.3813C>T (p.Ser1271=)
|
rs140985600 |
NM_024577.3(SH3TC2):c.3834G>A (p.Ala1278=)
|
rs117804174 |
NM_024577.3(SH3TC2):c.3847G>T (p.Gly1283Cys)
|
rs370844006 |
NM_024577.3(SH3TC2):c.385+3A>G
|
rs184593694 |
NM_024577.3(SH3TC2):c.477T>A (p.Ser159=)
|
rs77574155 |
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890 |
NM_024577.3(SH3TC2):c.512G>A (p.Gly171Glu)
|
rs17722293 |
NM_024577.3(SH3TC2):c.517C>A (p.Leu173Met)
|
rs147633804 |
NM_024577.3(SH3TC2):c.524del (p.Gln175fs)
|
rs1561770179 |
NM_024577.3(SH3TC2):c.529+8T>A
|
rs780594631 |
NM_024577.3(SH3TC2):c.530-1G>A
|
rs1580910061 |
NM_024577.3(SH3TC2):c.530-2A>G
|
rs80338920 |
NM_024577.3(SH3TC2):c.549C>T (p.Ala183=)
|
rs147013935 |
NM_024577.3(SH3TC2):c.558C>T (p.Ser186=)
|
rs141289653 |
NM_024577.3(SH3TC2):c.559G>A (p.Val187Met)
|
rs745613768 |
NM_024577.3(SH3TC2):c.596C>T (p.Thr199Ile)
|
rs368872316 |
NM_024577.3(SH3TC2):c.645C>T (p.Ser215=)
|
rs80227512 |
NM_024577.3(SH3TC2):c.661T>C (p.Ser221Pro)
|
rs747024391 |
NM_024577.3(SH3TC2):c.680G>A (p.Arg227Gln)
|
rs1257812868 |
NM_024577.3(SH3TC2):c.689T>C (p.Val230Ala)
|
rs148634904 |
NM_024577.3(SH3TC2):c.73G>T (p.Asp25Tyr)
|
rs10066882 |
NM_024577.3(SH3TC2):c.751C>T (p.Pro251Ser)
|
rs144963732 |
NM_024577.3(SH3TC2):c.793T>A (p.Ser265Thr)
|
rs1580909284 |
NM_024577.3(SH3TC2):c.79A>G (p.Thr27Ala)
|
rs141649676 |
NM_024577.3(SH3TC2):c.830C>T (p.Thr277Met)
|
rs757969875 |
NM_024577.3(SH3TC2):c.894C>T (p.Ile298=)
|
rs779808918 |
NM_024577.3(SH3TC2):c.920G>A (p.Trp307Ter)
|
rs80338921 |
NM_024577.3(SH3TC2):c.957del (p.Phe320fs)
|
rs1554122541 |
NM_024577.4(SH3TC2):c.*858_*862del
|
rs1561755591 |
NM_024577.4(SH3TC2):c.*861dup
|
rs5872107 |
NM_024577.4(SH3TC2):c.1002-8C>T
|
rs748766254 |
NM_024577.4(SH3TC2):c.1096A>G (p.Thr366Ala)
|
rs0 |
NM_024577.4(SH3TC2):c.1136-12A>G
|
rs0 |
NM_024577.4(SH3TC2):c.1163C>T (p.Pro388Leu)
|
rs0 |
NM_024577.4(SH3TC2):c.1168G>T (p.Asp390Tyr)
|
rs0 |
NM_024577.4(SH3TC2):c.1177+18T>A
|
rs0 |
NM_024577.4(SH3TC2):c.1306T>A (p.Ser436Thr)
|
rs0 |
NM_024577.4(SH3TC2):c.1322T>C (p.Leu441Pro)
|
rs0 |
NM_024577.4(SH3TC2):c.1349C>T (p.Pro450Leu)
|
rs0 |
NM_024577.4(SH3TC2):c.1405C>T (p.Pro469Ser)
|
rs0 |
NM_024577.4(SH3TC2):c.1436A>G (p.Tyr479Cys)
|
rs0 |
NM_024577.4(SH3TC2):c.151+15_151+16del
|
rs0 |
NM_024577.4(SH3TC2):c.1583C>T (p.Ala528Val)
|
rs0 |
NM_024577.4(SH3TC2):c.1584C>G (p.Ala528=)
|
rs0 |
NM_024577.4(SH3TC2):c.1623G>A (p.Lys541=)
|
rs372749343 |
NM_024577.4(SH3TC2):c.1748G>C (p.Arg583Thr)
|
rs0 |
NM_024577.4(SH3TC2):c.1813C>T (p.Arg605Cys)
|
rs778936762 |
NM_024577.4(SH3TC2):c.1890G>A (p.Pro630=)
|
rs0 |
NM_024577.4(SH3TC2):c.1915del (p.Ala639fs)
|
rs1580900732 |
NM_024577.4(SH3TC2):c.192G>T (p.Arg64Ser)
|
rs0 |
NM_024577.4(SH3TC2):c.2036T>G (p.Leu679Arg)
|
rs0 |
NM_024577.4(SH3TC2):c.2095C>T (p.Gln699Ter)
|
rs0 |
NM_024577.4(SH3TC2):c.2140G>C (p.Val714Leu)
|
rs0 |
NM_024577.4(SH3TC2):c.214G>A (p.Glu72Lys)
|
rs0 |
NM_024577.4(SH3TC2):c.2184C>A (p.Gly728=)
|
rs0 |
NM_024577.4(SH3TC2):c.2228C>G (p.Ala743Gly)
|
rs974346945 |
NM_024577.4(SH3TC2):c.2263A>G (p.Thr755Ala)
|
rs0 |
NM_024577.4(SH3TC2):c.2275C>A (p.Leu759Met)
|
rs0 |
NM_024577.4(SH3TC2):c.229C>T (p.Arg77Trp)
|
rs0 |
NM_024577.4(SH3TC2):c.2317C>T (p.Pro773Ser)
|
rs0 |
NM_024577.4(SH3TC2):c.2433G>T (p.Gln811His)
|
rs0 |
NM_024577.4(SH3TC2):c.2487_2488AG[1] (p.Glu830fs)
|
rs0 |
NM_024577.4(SH3TC2):c.2535A>C (p.Ala845=)
|
rs0 |
NM_024577.4(SH3TC2):c.253del (p.Asp85fs)
|
rs1580914356 |
NM_024577.4(SH3TC2):c.2551_2554dup (p.Val852fs)
|
rs0 |
NM_024577.4(SH3TC2):c.2554G>A (p.Val852Met)
|
rs0 |
NM_024577.4(SH3TC2):c.2718T>C (p.Tyr906=)
|
rs0 |
NM_024577.4(SH3TC2):c.280-1334dup
|
rs752479043 |
NM_024577.4(SH3TC2):c.280-4G>A
|
rs0 |
NM_024577.4(SH3TC2):c.2818C>A (p.Leu940Ile)
|
rs0 |
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933 |
NM_024577.4(SH3TC2):c.2873-16C>T
|
rs0 |
NM_024577.4(SH3TC2):c.2873-17C>T
|
rs0 |
NM_024577.4(SH3TC2):c.2873G>A (p.Ser958Asn)
|
rs0 |
NM_024577.4(SH3TC2):c.2962C>A (p.Leu988Met)
|
rs0 |
NM_024577.4(SH3TC2):c.2989del (p.Arg997fs)
|
rs1174949678 |
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro)
|
rs537759361 |
NM_024577.4(SH3TC2):c.3204+5G>A
|
rs0 |
NM_024577.4(SH3TC2):c.3292A>C (p.Thr1098Pro)
|
rs77636085 |
NM_024577.4(SH3TC2):c.3295dup (p.Arg1099fs)
|
rs1580889900 |
NM_024577.4(SH3TC2):c.3296G>A (p.Arg1099His)
|
rs0 |
NM_024577.4(SH3TC2):c.3305del (p.His1102fs)
|
rs1580889892 |
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)
|
rs80338934 |
NM_024577.4(SH3TC2):c.3479-20C>T
|
rs0 |
NM_024577.4(SH3TC2):c.3522A>G (p.Thr1174=)
|
rs762263591 |
NM_024577.4(SH3TC2):c.3531C>T (p.Tyr1177=)
|
rs0 |
NM_024577.4(SH3TC2):c.3616G>A (p.Ala1206Thr)
|
rs0 |
NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp)
|
rs0 |
NM_024577.4(SH3TC2):c.3773A>G (p.Asp1258Gly)
|
rs0 |
NM_024577.4(SH3TC2):c.3818G>A (p.Cys1273Tyr)
|
rs0 |
NM_024577.4(SH3TC2):c.3856C>G (p.Leu1286Val)
|
rs0 |
NM_024577.4(SH3TC2):c.52+4A>G
|
rs0 |
NM_024577.4(SH3TC2):c.53-17del
|
rs0 |
NM_024577.4(SH3TC2):c.543C>T (p.Cys181=)
|
rs371302639 |
NM_024577.4(SH3TC2):c.54dup (p.Lys19Ter)
|
rs1580917136 |
NM_024577.4(SH3TC2):c.620C>T (p.Ser207Leu)
|
rs0 |
NM_024577.4(SH3TC2):c.660G>C (p.Val220=)
|
rs202052720 |
NM_024577.4(SH3TC2):c.679C>T (p.Arg227Trp)
|
rs0 |
NM_024577.4(SH3TC2):c.687G>C (p.Leu229=)
|
rs0 |
NM_024577.4(SH3TC2):c.688del (p.Val230fs)
|
rs775740308 |
NM_024577.4(SH3TC2):c.731+17C>A
|
rs0 |
NM_024577.4(SH3TC2):c.822_850dup (p.Lys284delinsArgProTer)
|
rs0 |
NM_024577.4(SH3TC2):c.945A>G (p.Ser315=)
|
rs0 |