Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.154465349_154465359dupCA2648156788IL6Rc.1376_1386dup (p.Asp463SerfsTer?)
c.*184_*194dup (n.*184_*194dup)
c.*57_*67dup (n.*57_*67dup)
c.*217_*227dup (n.*217_*227dup)
c.1424_1434dup (p.Asp479SerfsTer?)
c.1523_1533dup (p.Asp512SerfsTer?)
c.1475_1485dup (p.Asp496SerfsTer?)
c.1469_1479dup (p.Asp494SerfsTer?)
c.1370_1380dup (p.Asp461SerfsTer?)
c.1016_1026dup (p.Asp343SerfsTer?)
gnomAD v4
1g.154465349_154465351delCA1129361IL6Rc.1376_1378del (p.Ile459del)
c.*184_*186del (n.*184_*186del)
c.*57_*59del (n.*57_*59del)
c.*217_*219del (n.*217_*219del)
c.1424_1426del (p.Ile475del)
c.1523_1525del (p.Ile508del)
c.1475_1477del (p.Ile492del)
c.1469_1471del (p.Ile490del)
c.1370_1372del (p.Ile457del)
c.1016_1018del (p.Ile339del)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.154465351A>CCA342628777IL6Rc.1378A>C (p.Ser460Arg)
c.*186A>C (n.*186A>C)
c.*59A>C (n.*59A>C)
c.*219A>C (n.*219A>C)
c.1426A>C (p.Ser476Arg)
c.1525A>C (p.Ser509Arg)
c.1477A>C (p.Ser493Arg)
c.1471A>C (p.Ser491Arg)
c.1372A>C (p.Ser458Arg)
c.1018A>C (p.Ser340Arg)
1g.154465351A>GCA342628779IL6Rc.1378A>G (p.Ser460Gly)
c.*186A>G (n.*186A>G)
c.*59A>G (n.*59A>G)
c.*219A>G (n.*219A>G)
c.1426A>G (p.Ser476Gly)
c.1525A>G (p.Ser509Gly)
c.1477A>G (p.Ser493Gly)
c.1471A>G (p.Ser491Gly)
c.1372A>G (p.Ser458Gly)
c.1018A>G (p.Ser340Gly)
1g.154465351A>TCA342628781IL6Rc.1378A>T (p.Ser460Cys)
c.*186A>T (n.*186A>T)
c.*59A>T (n.*59A>T)
c.*219A>T (n.*219A>T)
c.1426A>T (p.Ser476Cys)
c.1525A>T (p.Ser509Cys)
c.1477A>T (p.Ser493Cys)
c.1471A>T (p.Ser491Cys)
c.1372A>T (p.Ser458Cys)
c.1018A>T (p.Ser340Cys)
1g.154465352G>ACA342628786IL6Rc.1379G>A (p.Ser460Asn)
c.*187G>A (n.*187G>A)
c.*60G>A (n.*60G>A)
c.*220G>A (n.*220G>A)
c.1427G>A (p.Ser476Asn)
c.1526G>A (p.Ser509Asn)
c.1478G>A (p.Ser493Asn)
c.1472G>A (p.Ser491Asn)
c.1373G>A (p.Ser458Asn)
c.1019G>A (p.Ser340Asn)
gnomAD v4
1g.154465352G>CCA342628783IL6Rc.1379G>C (p.Ser460Thr)
c.*187G>C (n.*187G>C)
c.*60G>C (n.*60G>C)
c.*220G>C (n.*220G>C)
c.1427G>C (p.Ser476Thr)
c.1526G>C (p.Ser509Thr)
c.1478G>C (p.Ser493Thr)
c.1472G>C (p.Ser491Thr)
c.1373G>C (p.Ser458Thr)
c.1019G>C (p.Ser340Thr)
1g.154465352G>TCA342628784IL6Rc.1379G>T (p.Ser460Ile)
c.*187G>T (n.*187G>T)
c.*60G>T (n.*60G>T)
c.*220G>T (n.*220G>T)
c.1427G>T (p.Ser476Ile)
c.1526G>T (p.Ser509Ile)
c.1478G>T (p.Ser493Ile)
c.1472G>T (p.Ser491Ile)
c.1373G>T (p.Ser458Ile)
c.1019G>T (p.Ser340Ile)
1g.154465353C>ACA342628789IL6Rc.1380C>A (p.Ser460Arg)
c.*188C>A (n.*188C>A)
c.*61C>A (n.*61C>A)
c.*221C>A (n.*221C>A)
c.1428C>A (p.Ser476Arg)
c.1527C>A (p.Ser509Arg)
c.1479C>A (p.Ser493Arg)
c.1473C>A (p.Ser491Arg)
c.1374C>A (p.Ser458Arg)
c.1020C>A (p.Ser340Arg)
1g.154465353C>GCA342628790IL6Rc.1380C>G (p.Ser460Arg)
c.*188C>G (n.*188C>G)
c.*61C>G (n.*61C>G)
c.*221C>G (n.*221C>G)
c.1428C>G (p.Ser476Arg)
c.1527C>G (p.Ser509Arg)
c.1479C>G (p.Ser493Arg)
c.1473C>G (p.Ser491Arg)
c.1374C>G (p.Ser458Arg)
c.1020C>G (p.Ser340Arg)
1g.154465353C>TCA420976040IL6Rc.1380C>T (p.Ser460=)
c.*188C>T (n.*188C>T)
c.*61C>T (n.*61C>T)
c.*221C>T (n.*221C>T)
c.1428C>T (p.Ser476=)
c.1527C>T (p.Ser509=)
c.1479C>T (p.Ser493=)
c.1473C>T (p.Ser491=)
c.1374C>T (p.Ser458=)
c.1020C>T (p.Ser340=)
1g.154465354A=CA2480880342IL6Rc.1381A= (p.Asn461=)
c.*189A= (n.*189A=)
c.*62A= (n.*62A=)
c.*222A= (n.*222A=)
c.1429A= (p.Asn477=)
c.1528A= (p.Asn510=)
c.1480A= (p.Asn494=)
c.1474A= (p.Asn492=)
c.1375A= (p.Asn459=)
c.1021A= (p.Asn341=)
1g.154465354A>CCA342628791IL6Rc.1381A>C (p.Asn461His)
c.*189A>C (n.*189A>C)
c.*62A>C (n.*62A>C)
c.*222A>C (n.*222A>C)
c.1429A>C (p.Asn477His)
c.1528A>C (p.Asn510His)
c.1480A>C (p.Asn494His)
c.1474A>C (p.Asn492His)
c.1375A>C (p.Asn459His)
c.1021A>C (p.Asn341His)
1g.154465354A>GCA1129363IL6Rc.1381A>G (p.Asn461Asp)
c.*189A>G (n.*189A>G)
c.*62A>G (n.*62A>G)
c.*222A>G (n.*222A>G)
c.1429A>G (p.Asn477Asp)
c.1528A>G (p.Asn510Asp)
c.1480A>G (p.Asn494Asp)
c.1474A>G (p.Asn492Asp)
c.1375A>G (p.Asn459Asp)
c.1021A>G (p.Asn341Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.154465354A>TCA342628794IL6Rc.1381A>T (p.Asn461Tyr)
c.*189A>T (n.*189A>T)
c.*62A>T (n.*62A>T)
c.*222A>T (n.*222A>T)
c.1429A>T (p.Asn477Tyr)
c.1528A>T (p.Asn510Tyr)
c.1480A>T (p.Asn494Tyr)
c.1474A>T (p.Asn492Tyr)
c.1375A>T (p.Asn459Tyr)
c.1021A>T (p.Asn341Tyr)
1g.154465355A=CA2480880343IL6Rc.1382A= (p.Asn461=)
c.*190A= (n.*190A=)
c.*63A= (n.*63A=)
c.*223A= (n.*223A=)
c.1430A= (p.Asn477=)
c.1529A= (p.Asn510=)
c.1481A= (p.Asn494=)
c.1475A= (p.Asn492=)
c.1376A= (p.Asn459=)
c.1022A= (p.Asn341=)
1g.154465355A>CCA342628796IL6Rc.1382A>C (p.Asn461Thr)
c.*190A>C (n.*190A>C)
c.*63A>C (n.*63A>C)
c.*223A>C (n.*223A>C)
c.1430A>C (p.Asn477Thr)
c.1529A>C (p.Asn510Thr)
c.1481A>C (p.Asn494Thr)
c.1475A>C (p.Asn492Thr)
c.1376A>C (p.Asn459Thr)
c.1022A>C (p.Asn341Thr)
1g.154465355A>GCA342628798IL6Rc.1382A>G (p.Asn461Ser)
c.*190A>G (n.*190A>G)
c.*63A>G (n.*63A>G)
c.*223A>G (n.*223A>G)
c.1430A>G (p.Asn477Ser)
c.1529A>G (p.Asn510Ser)
c.1481A>G (p.Asn494Ser)
c.1475A>G (p.Asn492Ser)
c.1376A>G (p.Asn459Ser)
c.1022A>G (p.Asn341Ser)
dbSNP gnomAD v3 gnomAD v4
1g.154465355A>TCA342628800IL6Rc.1382A>T (p.Asn461Ile)
c.*190A>T (n.*190A>T)
c.*63A>T (n.*63A>T)
c.*223A>T (n.*223A>T)
c.1430A>T (p.Asn477Ile)
c.1529A>T (p.Asn510Ile)
c.1481A>T (p.Asn494Ile)
c.1475A>T (p.Asn492Ile)
c.1376A>T (p.Asn459Ile)
c.1022A>T (p.Asn341Ile)
1g.154465356T>ACA342628801IL6Rc.1383T>A (p.Asn461Lys)
c.*191T>A (n.*191T>A)
c.*64T>A (n.*64T>A)
c.*224T>A (n.*224T>A)
c.1431T>A (p.Asn477Lys)
c.1530T>A (p.Asn510Lys)
c.1482T>A (p.Asn494Lys)
c.1476T>A (p.Asn492Lys)
c.1377T>A (p.Asn459Lys)
c.1023T>A (p.Asn341Lys)
1g.154465356T>CCA420976041IL6Rc.1383T>C (p.Asn461=)
c.*191T>C (n.*191T>C)
c.*64T>C (n.*64T>C)
c.*224T>C (n.*224T>C)
c.1431T>C (p.Asn477=)
c.1530T>C (p.Asn510=)
c.1482T>C (p.Asn494=)
c.1476T>C (p.Asn492=)
c.1377T>C (p.Asn459=)
c.1023T>C (p.Asn341=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.154465356T>GCA342628802IL6Rc.1383T>G (p.Asn461Lys)
c.*191T>G (n.*191T>G)
c.*64T>G (n.*64T>G)
c.*224T>G (n.*224T>G)
c.1431T>G (p.Asn477Lys)
c.1530T>G (p.Asn510Lys)
c.1482T>G (p.Asn494Lys)
c.1476T>G (p.Asn492Lys)
c.1377T>G (p.Asn459Lys)
c.1023T>G (p.Asn341Lys)
1g.154465356T=CA2480880344IL6Rc.1383T= (p.Asn461=)
c.*191T= (n.*191T=)
c.*64T= (n.*64T=)
c.*224T= (n.*224T=)
c.1431T= (p.Asn477=)
c.1530T= (p.Asn510=)
c.1482T= (p.Asn494=)
c.1476T= (p.Asn492=)
c.1377T= (p.Asn459=)
c.1023T= (p.Asn341=)
1g.154465357A>CCA342628804IL6Rc.1384A>C (p.Thr462Pro)
c.*192A>C (n.*192A>C)
c.*65A>C (n.*65A>C)
c.*225A>C (n.*225A>C)
c.1432A>C (p.Thr478Pro)
c.1531A>C (p.Thr511Pro)
c.1483A>C (p.Thr495Pro)
c.1477A>C (p.Thr493Pro)
c.1378A>C (p.Thr460Pro)
c.1024A>C (p.Thr342Pro)
1g.154465357A>GCA342628805IL6Rc.1384A>G (p.Thr462Ala)
c.*192A>G (n.*192A>G)
c.*65A>G (n.*65A>G)
c.*225A>G (n.*225A>G)
c.1432A>G (p.Thr478Ala)
c.1531A>G (p.Thr511Ala)
c.1483A>G (p.Thr495Ala)
c.1477A>G (p.Thr493Ala)
c.1378A>G (p.Thr460Ala)
c.1024A>G (p.Thr342Ala)
1g.154465357A>TCA342628807IL6Rc.1384A>T (p.Thr462Ser)
c.*192A>T (n.*192A>T)
c.*65A>T (n.*65A>T)
c.*225A>T (n.*225A>T)
c.1432A>T (p.Thr478Ser)
c.1531A>T (p.Thr511Ser)
c.1483A>T (p.Thr495Ser)
c.1477A>T (p.Thr493Ser)
c.1378A>T (p.Thr460Ser)
c.1024A>T (p.Thr342Ser)
1g.154465358C>ACA342628809IL6Rc.1385C>A (p.Thr462Lys)
c.*193C>A (n.*193C>A)
c.*66C>A (n.*66C>A)
c.*226C>A (n.*226C>A)
c.1433C>A (p.Thr478Lys)
c.1532C>A (p.Thr511Lys)
c.1484C>A (p.Thr495Lys)
c.1478C>A (p.Thr493Lys)
c.1379C>A (p.Thr460Lys)
c.1025C>A (p.Thr342Lys)
1g.154465358C>GCA342628812IL6Rc.1385C>G (p.Thr462Arg)
c.*193C>G (n.*193C>G)
c.*66C>G (n.*66C>G)
c.*226C>G (n.*226C>G)
c.1433C>G (p.Thr478Arg)
c.1532C>G (p.Thr511Arg)
c.1484C>G (p.Thr495Arg)
c.1478C>G (p.Thr493Arg)
c.1379C>G (p.Thr460Arg)
c.1025C>G (p.Thr342Arg)
1g.154465358C>TCA342628811IL6Rc.1385C>T (p.Thr462Ile)
c.*193C>T (n.*193C>T)
c.*66C>T (n.*66C>T)
c.*226C>T (n.*226C>T)
c.1433C>T (p.Thr478Ile)
c.1532C>T (p.Thr511Ile)
c.1484C>T (p.Thr495Ile)
c.1478C>T (p.Thr493Ile)
c.1379C>T (p.Thr460Ile)
c.1025C>T (p.Thr342Ile)
gnomAD v4
1g.154465359A>CCA420976044IL6Rc.1386A>C (p.Thr462=)
c.*194A>C (n.*194A>C)
c.*67A>C (n.*67A>C)
c.*227A>C (n.*227A>C)
c.1434A>C (p.Thr478=)
c.1533A>C (p.Thr511=)
c.1485A>C (p.Thr495=)
c.1479A>C (p.Thr493=)
c.1380A>C (p.Thr460=)
c.1026A>C (p.Thr342=)
1g.154465359A>GCA420976043IL6Rc.1386A>G (p.Thr462=)
c.*194A>G (n.*194A>G)
c.*67A>G (n.*67A>G)
c.*227A>G (n.*227A>G)
c.1434A>G (p.Thr478=)
c.1533A>G (p.Thr511=)
c.1485A>G (p.Thr495=)
c.1479A>G (p.Thr493=)
c.1380A>G (p.Thr460=)
c.1026A>G (p.Thr342=)
1g.154465359A>TCA420976042IL6Rc.1386A>T (p.Thr462=)
c.*194A>T (n.*194A>T)
c.*67A>T (n.*67A>T)
c.*227A>T (n.*227A>T)
c.1434A>T (p.Thr478=)
c.1533A>T (p.Thr511=)
c.1485A>T (p.Thr495=)
c.1479A>T (p.Thr493=)
c.1380A>T (p.Thr460=)
c.1026A>T (p.Thr342=)
gnomAD v4
1g.154465360G>ACA342628814IL6Rc.1387G>A (p.Asp463Asn)
c.*195G>A (n.*195G>A)
c.*68G>A (n.*68G>A)
c.*228G>A (n.*228G>A)
c.1435G>A (p.Asp479Asn)
c.1534G>A (p.Asp512Asn)
c.1486G>A (p.Asp496Asn)
c.1480G>A (p.Asp494Asn)
c.1381G>A (p.Asp461Asn)
c.1027G>A (p.Asp343Asn)
1g.154465360G>CCA342628816IL6Rc.1387G>C (p.Asp463His)
c.*195G>C (n.*195G>C)
c.*68G>C (n.*68G>C)
c.*228G>C (n.*228G>C)
c.1435G>C (p.Asp479His)
c.1534G>C (p.Asp512His)
c.1486G>C (p.Asp496His)
c.1480G>C (p.Asp494His)
c.1381G>C (p.Asp461His)
c.1027G>C (p.Asp343His)
1g.154465360G=CA2480880346IL6Rc.1387G= (p.Asp463=)
c.*195G= (n.*195G=)
c.*68G= (n.*68G=)
c.*228G= (n.*228G=)
c.1435G= (p.Asp479=)
c.1534G= (p.Asp512=)
c.1486G= (p.Asp496=)
c.1480G= (p.Asp494=)
c.1381G= (p.Asp461=)
c.1027G= (p.Asp343=)
1g.154465360G>TCA342628818IL6Rc.1387G>T (p.Asp463Tyr)
c.*195G>T (n.*195G>T)
c.*68G>T (n.*68G>T)
c.*228G>T (n.*228G>T)
c.1435G>T (p.Asp479Tyr)
c.1534G>T (p.Asp512Tyr)
c.1486G>T (p.Asp496Tyr)
c.1480G>T (p.Asp494Tyr)
c.1381G>T (p.Asp461Tyr)
c.1027G>T (p.Asp343Tyr)
dbSNP gnomAD v2 gnomAD v4
1g.154465360_154465361delinsGACA2480880345IL6Rc.1387_1388delinsGA (p.Asp463=)
c.*195_*196delinsGA (n.*195_*196delinsGA)
c.*68_*69delinsGA (n.*68_*69delinsGA)
c.*228_*229delinsGA (n.*228_*229delinsGA)
c.1435_1436delinsGA (p.Asp479=)
c.1534_1535delinsGA (p.Asp512=)
c.1486_1487delinsGA (p.Asp496=)
c.1480_1481delinsGA (p.Asp494=)
c.1381_1382delinsGA (p.Asp461=)
c.1027_1028delinsGA (p.Asp343=)
1g.154465361delCA30816650IL6Rc.1388del (p.Asp463AlafsTer?)
c.*196del (n.*196del)
c.*69del (n.*69del)
c.*229del (n.*229del)
c.1436del (p.Asp479AlafsTer?)
c.1535del (p.Asp512AlafsTer?)
c.1487del (p.Asp496AlafsTer?)
c.1481del (p.Asp494AlafsTer?)
c.1382del (p.Asp461AlafsTer?)
c.1028del (p.Asp343AlafsTer?)
dbSNP gnomAD v3 gnomAD v4
1g.154465361A=CA2480880347IL6Rc.1388A= (p.Asp463=)
c.*196A= (n.*196A=)
c.*69A= (n.*69A=)
c.*229A= (n.*229A=)
c.1436A= (p.Asp479=)
c.1535A= (p.Asp512=)
c.1487A= (p.Asp496=)
c.1481A= (p.Asp494=)
c.1382A= (p.Asp461=)
c.1028A= (p.Asp343=)
1g.154465361A>CCA342628820IL6Rc.1388A>C (p.Asp463Ala)
c.*196A>C (n.*196A>C)
c.*69A>C (n.*69A>C)
c.*229A>C (n.*229A>C)
c.1436A>C (p.Asp479Ala)
c.1535A>C (p.Asp512Ala)
c.1487A>C (p.Asp496Ala)
c.1481A>C (p.Asp494Ala)
c.1382A>C (p.Asp461Ala)
c.1028A>C (p.Asp343Ala)
1g.154465361A>GCA1129364IL6Rc.1388A>G (p.Asp463Gly)
c.*196A>G (n.*196A>G)
c.*69A>G (n.*69A>G)
c.*229A>G (n.*229A>G)
c.1436A>G (p.Asp479Gly)
c.1535A>G (p.Asp512Gly)
c.1487A>G (p.Asp496Gly)
c.1481A>G (p.Asp494Gly)
c.1382A>G (p.Asp461Gly)
c.1028A>G (p.Asp343Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154465361A>TCA342628823IL6Rc.1388A>T (p.Asp463Val)
c.*196A>T (n.*196A>T)
c.*69A>T (n.*69A>T)
c.*229A>T (n.*229A>T)
c.1436A>T (p.Asp479Val)
c.1535A>T (p.Asp512Val)
c.1487A>T (p.Asp496Val)
c.1481A>T (p.Asp494Val)
c.1382A>T (p.Asp461Val)
c.1028A>T (p.Asp343Val)
1g.154465364_154465366delCA2648156789IL6Rc.1391_1393del (p.Tyr464del)
c.*199_*201del (n.*199_*201del)
c.*72_*74del (n.*72_*74del)
c.*232_*234del (n.*232_*234del)
c.1439_1441del (p.Tyr480del)
c.1538_1540del (p.Tyr513del)
c.1490_1492del (p.Tyr497del)
c.1484_1486del (p.Tyr495del)
c.1385_1387del (p.Tyr462del)
c.1031_1033del (p.Tyr344del)
gnomAD v4
1g.154465362C>ACA342628827IL6Rc.1389C>A (p.Asp463Glu)
c.*197C>A (n.*197C>A)
c.*70C>A (n.*70C>A)
c.*230C>A (n.*230C>A)
c.1437C>A (p.Asp479Glu)
c.1536C>A (p.Asp512Glu)
c.1488C>A (p.Asp496Glu)
c.1482C>A (p.Asp494Glu)
c.1383C>A (p.Asp461Glu)
c.1029C>A (p.Asp343Glu)
1g.154465362C=CA2480880348IL6Rc.1389C= (p.Asp463=)
c.*197C= (n.*197C=)
c.*70C= (n.*70C=)
c.*230C= (n.*230C=)
c.1437C= (p.Asp479=)
c.1536C= (p.Asp512=)
c.1488C= (p.Asp496=)
c.1482C= (p.Asp494=)
c.1383C= (p.Asp461=)
c.1029C= (p.Asp343=)
1g.154465362C>GCA342628825IL6Rc.1389C>G (p.Asp463Glu)
c.*197C>G (n.*197C>G)
c.*70C>G (n.*70C>G)
c.*230C>G (n.*230C>G)
c.1437C>G (p.Asp479Glu)
c.1536C>G (p.Asp512Glu)
c.1488C>G (p.Asp496Glu)
c.1482C>G (p.Asp494Glu)
c.1383C>G (p.Asp461Glu)
c.1029C>G (p.Asp343Glu)
1g.154465362C>TCA420976045IL6Rc.1389C>T (p.Asp463=)
c.*197C>T (n.*197C>T)
c.*70C>T (n.*70C>T)
c.*230C>T (n.*230C>T)
c.1437C>T (p.Asp479=)
c.1536C>T (p.Asp512=)
c.1488C>T (p.Asp496=)
c.1482C>T (p.Asp494=)
c.1383C>T (p.Asp461=)
c.1029C>T (p.Asp343=)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.154465363T>ACA342628830IL6Rc.1390T>A (p.Tyr464Asn)
c.*198T>A (n.*198T>A)
c.*71T>A (n.*71T>A)
c.*231T>A (n.*231T>A)
c.1438T>A (p.Tyr480Asn)
c.1537T>A (p.Tyr513Asn)
c.1489T>A (p.Tyr497Asn)
c.1483T>A (p.Tyr495Asn)
c.1384T>A (p.Tyr462Asn)
c.1030T>A (p.Tyr344Asn)
1g.154465363T>CCA342628831IL6Rc.1390T>C (p.Tyr464His)
c.*198T>C (n.*198T>C)
c.*71T>C (n.*71T>C)
c.*231T>C (n.*231T>C)
c.1438T>C (p.Tyr480His)
c.1537T>C (p.Tyr513His)
c.1489T>C (p.Tyr497His)
c.1483T>C (p.Tyr495His)
c.1384T>C (p.Tyr462His)
c.1030T>C (p.Tyr344His)
1g.154465363T>GCA342628833IL6Rc.1390T>G (p.Tyr464Asp)
c.*198T>G (n.*198T>G)
c.*71T>G (n.*71T>G)
c.*231T>G (n.*231T>G)
c.1438T>G (p.Tyr480Asp)
c.1537T>G (p.Tyr513Asp)
c.1489T>G (p.Tyr497Asp)
c.1483T>G (p.Tyr495Asp)
c.1384T>G (p.Tyr462Asp)
c.1030T>G (p.Tyr344Asp)

Number of alleles fetched