Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.48381248_48381444delCA645578673RB1c.1500_1695+1del
c.1239_1434+1del
 COSMIC
13g.48381336_48381343delCA2728038099RB1c.1588_1595del (p.Lys530ArgfsTer22)
c.87_94del
c.1327_1334del (p.Lys443ArgfsTer22)
 dbSNP
13g.48381342A>CCA388163673RB1c.1594A>C (p.Ile532Leu)
c.93A>C
c.1333A>C (p.Ile445Leu)
13g.48381342A>GCA388163678RB1c.1594A>G (p.Ile532Val)
c.93A>G
c.1333A>G (p.Ile445Val)
 ClinVar dbSNP
13g.48381342A>TCA388163676RB1c.1594A>T (p.Ile532Phe)
c.93A>T
c.1333A>T (p.Ile445Phe)
 ClinVar dbSNP gnomAD v4
13g.48381343T>ACA388163680RB1c.1595T>A (p.Ile532Asn)
c.94T>A
c.1334T>A (p.Ile445Asn)
 ClinVar dbSNP
13g.48381343T>CCA388163682RB1c.1595T>C (p.Ile532Thr)
c.94T>C
c.1334T>C (p.Ile445Thr)
 dbSNP
13g.48381343T>GCA388163684RB1c.1595T>G (p.Ile532Ser)
c.94T>G
c.1334T>G (p.Ile445Ser)
 gnomAD v4
13g.48381343T=CA2089972455RB1c.1595T= (p.Ile532=)
c.94T=
c.1334T= (p.Ile445=)
13g.48381344C>ACA029120RB1c.1596C>A (p.Ile532=)
c.95C>A
c.1335C>A (p.Ile445=)
 ClinVar dbSNP ExAC gnomAD v4
13g.48381344C=CA2089972460RB1c.1596C= (p.Ile532=)
c.95C=
c.1335C= (p.Ile445=)
13g.48381344C>GCA388163688RB1c.1596C>G (p.Ile532Met)
c.95C>G
c.1335C>G (p.Ile445Met)
 ClinVar
13g.48381344C>TCA029127RB1c.1596C>T (p.Ile532=)
c.95C>T
c.1335C>T (p.Ile445=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
13g.48381345G>ACA388163690RB1c.1597G>A (p.Glu533Lys)
c.96G>A
c.1336G>A (p.Glu446Lys)
 ClinVar dbSNP gnomAD v4
13g.48381345G>CCA388163692RB1c.1597G>C (p.Glu533Gln)
c.96G>C
c.1336G>C (p.Glu446Gln)
 ClinVar dbSNP gnomAD v4
13g.48381345G=CA2089972462RB1c.1597G= (p.Glu533=)
c.96G=
c.1336G= (p.Glu446=)
13g.48381345G>TCA388163694RB1c.1597G>T (p.Glu533Ter)
c.96G>T
c.1336G>T (p.Glu446Ter)
 ClinVar dbSNP COSMIC COSMIC
13g.48381346A>CCA388163698RB1c.1598A>C (p.Glu533Ala)
c.97A>C
c.1337A>C (p.Glu446Ala)
13g.48381346A>GCA388163699RB1c.1598A>G (p.Glu533Gly)
c.97A>G
c.1337A>G (p.Glu446Gly)
13g.48381346A>TCA388163701RB1c.1598A>T (p.Glu533Val)
c.97A>T
c.1337A>T (p.Glu446Val)
 dbSNP
13g.48381347A>CCA388163704RB1c.1599A>C (p.Glu533Asp)
c.98A>C
c.1338A>C (p.Glu446Asp)
13g.48381347A>GCA483559491RB1c.1599A>G (p.Glu533=)
c.98A>G
c.1338A>G (p.Glu446=)
13g.48381347A>TCA388163705RB1c.1599A>T (p.Glu533Asp)
c.98A>T
c.1338A>T (p.Glu446Asp)
 gnomAD v4
13g.48381348A>CCA388163708RB1c.1600A>C (p.Ser534Arg)
c.99A>C
c.1339A>C (p.Ser447Arg)
13g.48381348A>GCA388163710RB1c.1600A>G (p.Ser534Gly)
c.99A>G
c.1339A>G (p.Ser447Gly)
 gnomAD v4
13g.48381348A>TCA388163713RB1c.1600A>T (p.Ser534Cys)
c.99A>T
c.1339A>T (p.Ser447Cys)
 dbSNP
13g.48381349G>ACA388163716RB1c.1601G>A (p.Ser534Asn)
c.100G>A
c.1340G>A (p.Ser447Asn)
13g.48381349G>CCA388163717RB1c.1601G>C (p.Ser534Thr)
c.100G>C
c.1340G>C (p.Ser447Thr)
13g.48381349G>TCA388163718RB1c.1601G>T (p.Ser534Ile)
c.100G>T
c.1340G>T (p.Ser447Ile)
13g.48381350T>ACA388163719RB1c.1602T>A (p.Ser534Arg)
c.101T>A
c.1341T>A (p.Ser447Arg)
 dbSNP
13g.48381350T>CCA483559493RB1c.1602T>C (p.Ser534=)
c.101T>C
c.1341T>C (p.Ser447=)
 dbSNP gnomAD v4
13g.48381350T>GCA388163720RB1c.1602T>G (p.Ser534Arg)
c.101T>G
c.1341T>G (p.Ser447Arg)
13g.48381350T=CA2089972463RB1c.1602T= (p.Ser534=)
c.101T=
c.1341T= (p.Ser447=)
13g.48381353delCA2695218502RB1c.1605del (p.Phe535LeufsTer8)
c.104del
c.1344del (p.Phe448LeufsTer8)
 ClinVar
13g.48381351T>ACA388163722RB1c.1603T>A (p.Phe535Ile)
c.102T>A
c.1342T>A (p.Phe448Ile)
13g.48381351T>CCA388163723RB1c.1603T>C (p.Phe535Leu)
c.102T>C
c.1342T>C (p.Phe448Leu)
 ClinVar gnomAD v4
13g.48381351T>GCA388163725RB1c.1603T>G (p.Phe535Val)
c.102T>G
c.1342T>G (p.Phe448Val)
13g.48381352T>ACA388163729RB1c.1604T>A (p.Phe535Tyr)
c.103T>A
c.1343T>A (p.Phe448Tyr)
 dbSNP
13g.48381352T>CCA388163731RB1c.1604T>C (p.Phe535Ser)
c.103T>C
c.1343T>C (p.Phe448Ser)
 dbSNP
13g.48381352T>GCA388163728RB1c.1604T>G (p.Phe535Cys)
c.103T>G
c.1343T>G (p.Phe448Cys)
13g.48381353T>ACA388163734RB1c.1605T>A (p.Phe535Leu)
c.104T>A
c.1344T>A (p.Phe448Leu)
13g.48381353T>CCA483559495RB1c.1605T>C (p.Phe535=)
c.104T>C
c.1344T>C (p.Phe448=)
 dbSNP
13g.48381353T>GCA388163735RB1c.1605T>G (p.Phe535Leu)
c.104T>G
c.1344T>G (p.Phe448Leu)
13g.48381353T=CA2089972465RB1c.1605T= (p.Phe535=)
c.104T=
c.1344T= (p.Phe448=)
13g.48381354A=CA2089972466RB1c.1606A= (p.Ile536=)
c.105A=
c.1345A= (p.Ile449=)
13g.48381354A>CCA388163738RB1c.1606A>C (p.Ile536Leu)
c.105A>C
c.1345A>C (p.Ile449Leu)
13g.48381354A>GCA388163739RB1c.1606A>G (p.Ile536Val)
c.105A>G
c.1345A>G (p.Ile449Val)
 ClinVar dbSNP
13g.48381354A>TCA388163740RB1c.1606A>T (p.Ile536Phe)
c.105A>T
c.1345A>T (p.Ile449Phe)
 dbSNP
13g.48381355T>ACA388163741RB1c.1607T>A (p.Ile536Asn)
c.106T>A
c.1346T>A (p.Ile449Asn)
 dbSNP
13g.48381355T>CCA388163742RB1c.1607T>C (p.Ile536Thr)
c.106T>C
c.1346T>C (p.Ile449Thr)
13g.48381355T>GCA388163743RB1c.1607T>G (p.Ile536Ser)
c.106T>G
c.1346T>G (p.Ile449Ser)
13g.48381356C>ACA483559497RB1c.1608C>A (p.Ile536=)
c.107C>A
c.1347C>A (p.Ile449=)
 ClinVar
13g.48381356C=CA2089972468RB1c.1608C= (p.Ile536=)
c.107C=
c.1347C= (p.Ile449=)
13g.48381356C>GCA388163744RB1c.1608C>G (p.Ile536Met)
c.107C>G
c.1347C>G (p.Ile449Met)
 ClinVar dbSNP
13g.48381356C>TCA483559499RB1c.1608C>T (p.Ile536=)
c.107C>T
c.1347C>T (p.Ile449=)
 dbSNP
13g.48381357_48381358insGACACA2568560401RB1c.1609_1610insGACA (p.Lys537ArgfsTer19)
c.108_109insGACA
c.1348_1349insGACA (p.Lys450ArgfsTer19)
13g.48381357A>CCA388163745RB1c.1609A>C (p.Lys537Gln)
c.108A>C
c.1348A>C (p.Lys450Gln)
13g.48381357A>GCA388163746RB1c.1609A>G (p.Lys537Glu)
c.108A>G
c.1348A>G (p.Lys450Glu)
13g.48381357A>TCA388163748RB1c.1609A>T (p.Lys537Ter)
c.108A>T
c.1348A>T (p.Lys450Ter)
 dbSNP
13g.48381358A>CCA388163752RB1c.1610A>C (p.Lys537Thr)
c.109A>C
c.1349A>C (p.Lys450Thr)
13g.48381358A>GCA388163754RB1c.1610A>G (p.Lys537Arg)
c.109A>G
c.1349A>G (p.Lys450Arg)
13g.48381358A>TCA388163750RB1c.1610A>T (p.Lys537Ile)
c.109A>T
c.1349A>T (p.Lys450Ile)
 dbSNP
13g.48381359A>CCA388163755RB1c.1611A>C (p.Lys537Asn)
c.110A>C
c.1350A>C (p.Lys450Asn)
 gnomAD v4
13g.48381359A>GCA483559503RB1c.1611A>G (p.Lys537=)
c.110A>G
c.1350A>G (p.Lys450=)
13g.48381359A>TCA388163757RB1c.1611A>T (p.Lys537Asn)
c.110A>T
c.1350A>T (p.Lys450Asn)
 dbSNP
13g.48381360G>ACA388163760RB1c.1612G>A (p.Ala538Thr)
c.111G>A
c.1351G>A (p.Ala451Thr)
 dbSNP
13g.48381360G>CCA388163761RB1c.1612G>C (p.Ala538Pro)
c.111G>C
c.1351G>C (p.Ala451Pro)
 dbSNP
13g.48381360G>TCA388163762RB1c.1612G>T (p.Ala538Ser)
c.111G>T
c.1351G>T (p.Ala451Ser)
13g.48381360_48381361insAAAACA2553717066RB1c.1612_1613insAAAA (p.Ala538GlufsTer18)
c.111_112insAAAA
c.1351_1352insAAAA (p.Ala451GlufsTer18)
13g.48381361delCA2695218503RB1c.1613del (p.Ala538GlufsTer5)
c.112del
c.1352del (p.Ala451GlufsTer5)
13g.48381361C>ACA388163767RB1c.1613C>A (p.Ala538Glu)
c.112C>A
c.1352C>A (p.Ala451Glu)
 dbSNP
13g.48381361C>GCA388163764RB1c.1613C>G (p.Ala538Gly)
c.112C>G
c.1352C>G (p.Ala451Gly)
 dbSNP
13g.48381361C>TCA388163766RB1c.1613C>T (p.Ala538Val)
c.112C>T
c.1352C>T (p.Ala451Val)
 ClinVar dbSNP
13g.48381362A>CCA483559507RB1c.1614A>C (p.Ala538=)
c.113A>C
c.1353A>C (p.Ala451=)
13g.48381362A>GCA483559508RB1c.1614A>G (p.Ala538=)
c.113A>G
c.1353A>G (p.Ala451=)
 gnomAD v4
13g.48381362A>TCA483559509RB1c.1614A>T (p.Ala538=)
c.113A>T
c.1353A>T (p.Ala451=)
 dbSNP
13g.48381366_48381383delCA2695218504RB1c.1618_1635del (p.Gly540_Glu545del)
c.117_134del
c.1357_1374del (p.Gly453_Glu458del)
13g.48381363G>ACA249281961RB1c.1615G>A (p.Glu539Lys)
c.114G>A
c.1354G>A (p.Glu452Lys)
 dbSNP
13g.48381363G>CCA388163771RB1c.1615G>C (p.Glu539Gln)
c.114G>C
c.1354G>C (p.Glu452Gln)
 dbSNP
13g.48381363G=CA2089972470RB1c.1615G= (p.Glu539=)
c.114G=
c.1354G= (p.Glu452=)
13g.48381363G>TCA388163773RB1c.1615G>T (p.Glu539Ter)
c.114G>T
c.1354G>T (p.Glu452Ter)
13g.48381364A>CCA388163775RB1c.1616A>C (p.Glu539Ala)
c.115A>C
c.1355A>C (p.Glu452Ala)
13g.48381364A>GCA388163777RB1c.1616A>G (p.Glu539Gly)
c.115A>G
c.1355A>G (p.Glu452Gly)
13g.48381364A>TCA388163778RB1c.1616A>T (p.Glu539Val)
c.115A>T
c.1355A>T (p.Glu452Val)
 dbSNP
13g.48381364_48381365dupCA2825002184RB1c.1616_1617dup (p.Gly540LysfsTer4)
c.115_116dup
c.1355_1356dup (p.Gly453LysfsTer4)
 ClinVar
13g.48381365A=CA2089972471RB1c.1617A= (p.Glu539=)
c.116A=
c.1356A= (p.Glu452=)
13g.48381365A>CCA029151RB1c.1617A>C (p.Glu539Asp)
c.116A>C
c.1356A>C (p.Glu452Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48381365A>GCA483559513RB1c.1617A>G (p.Glu539=)
c.116A>G
c.1356A>G (p.Glu452=)
 gnomAD v4
13g.48381365A>TCA388163780RB1c.1617A>T (p.Glu539Asp)
c.116A>T
c.1356A>T (p.Glu452Asp)
 dbSNP
13g.48381366G>ACA388163782RB1c.1618G>A (p.Gly540Ser)
c.117G>A
c.1357G>A (p.Gly453Ser)
 dbSNP gnomAD v4
13g.48381366G>CCA388163785RB1c.1618G>C (p.Gly540Arg)
c.117G>C
c.1357G>C (p.Gly453Arg)
 dbSNP
13g.48381366G>TCA388163784RB1c.1618G>T (p.Gly540Cys)
c.117G>T
c.1357G>T (p.Gly453Cys)
 dbSNP
13g.48381366_48381367delCA2695218505RB1c.1618_1619del (p.Gly540GlnfsTer14)
c.117_118del
c.1357_1358del (p.Gly453GlnfsTer14)
13g.48381367G>ACA388163787RB1c.1619G>A (p.Gly540Asp)
c.118G>A
c.1358G>A (p.Gly453Asp)
 ClinVar dbSNP
13g.48381367G>CCA388163789RB1c.1619G>C (p.Gly540Ala)
c.118G>C
c.1358G>C (p.Gly453Ala)
 dbSNP
13g.48381367G=CA2089972474RB1c.1619G= (p.Gly540=)
c.118G=
c.1358G= (p.Gly453=)
13g.48381367G>TCA029168RB1c.1619G>T (p.Gly540Val)
c.118G>T
c.1358G>T (p.Gly453Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48381368C>ACA483559515RB1c.1620C>A (p.Gly540=)
c.119C>A
c.1359C>A (p.Gly453=)
 dbSNP
13g.48381368C>GCA483559516RB1c.1620C>G (p.Gly540=)
c.119C>G
c.1359C>G (p.Gly453=)
 dbSNP
13g.48381368C>TCA483559517RB1c.1620C>T (p.Gly540=)
c.119C>T
c.1359C>T (p.Gly453=)
 dbSNP COSMIC COSMIC
13g.48381369A>CCA388163791RB1c.1621A>C (p.Asn541His)
c.120A>C
c.1360A>C (p.Asn454His)
13g.48381369A>GCA388163793RB1c.1621A>G (p.Asn541Asp)
c.120A>G
c.1360A>G (p.Asn454Asp)
13g.48381369A>TCA388163795RB1c.1621A>T (p.Asn541Tyr)
c.120A>T
c.1360A>T (p.Asn454Tyr)
 dbSNP
13g.48381370A=CA2089972476RB1c.1622A= (p.Asn541=)
c.121A=
c.1361A= (p.Asn454=)
13g.48381370A>CCA388163796RB1c.1622A>C (p.Asn541Thr)
c.121A>C
c.1361A>C (p.Asn454Thr)
 dbSNP
13g.48381370A>GCA388163797RB1c.1622A>G (p.Asn541Ser)
c.121A>G
c.1361A>G (p.Asn454Ser)
 dbSNP
13g.48381370A>TCA388163798RB1c.1622A>T (p.Asn541Ile)
c.121A>T
c.1361A>T (p.Asn454Ile)
 dbSNP
13g.48381371delCA923726263RB1c.1623del (p.Leu542Ter)
c.122del
c.1362del (p.Leu455Ter)
 ClinVar
13g.48381371C>ACA388163800RB1c.1623C>A (p.Asn541Lys)
c.122C>A
c.1362C>A (p.Asn454Lys)
 dbSNP
13g.48381371C>GCA388163801RB1c.1623C>G (p.Asn541Lys)
c.122C>G
c.1362C>G (p.Asn454Lys)
 dbSNP
13g.48381371C>TCA483559521RB1c.1623C>T (p.Asn541=)
c.122C>T
c.1362C>T (p.Asn454=)
 dbSNP
13g.48381372T>ACA388163804RB1c.1624T>A (p.Leu542Met)
c.123T>A
c.1363T>A (p.Leu455Met)
 dbSNP
13g.48381372T>CCA483559524RB1c.1624T>C (p.Leu542=)
c.123T>C
c.1363T>C (p.Leu455=)
 dbSNP gnomAD v4
13g.48381372T>GCA388163805RB1c.1624T>G (p.Leu542Val)
c.123T>G
c.1363T>G (p.Leu455Val)
 gnomAD v4
13g.48381373T>ACA388163807RB1c.1625T>A (p.Leu542Ter)
c.124T>A
c.1364T>A (p.Leu455Ter)
 ClinVar dbSNP
13g.48381373T>CCA388163811RB1c.1625T>C (p.Leu542Ser)
c.124T>C
c.1364T>C (p.Leu455Ser)
 dbSNP
13g.48381373T>GCA388163809RB1c.1625T>G (p.Leu542Trp)
c.124T>G
c.1364T>G (p.Leu455Trp)
13g.48381373T=CA2089972478RB1c.1625T= (p.Leu542=)
c.124T=
c.1364T= (p.Leu455=)
13g.48381374G>ACA483559531RB1c.1626G>A (p.Leu542=)
c.125G>A
c.1365G>A (p.Leu455=)
 dbSNP
13g.48381374G>CCA388163813RB1c.1626G>C (p.Leu542Phe)
c.125G>C
c.1365G>C (p.Leu455Phe)
 dbSNP
13g.48381374G>TCA388163815RB1c.1626G>T (p.Leu542Phe)
c.125G>T
c.1365G>T (p.Leu455Phe)
 dbSNP
13g.48381375A>CCA388163817RB1c.1627A>C (p.Thr543Pro)
c.126A>C
c.1366A>C (p.Thr456Pro)
 dbSNP gnomAD v4
13g.48381375A>GCA388163818RB1c.1627A>G (p.Thr543Ala)
c.126A>G
c.1366A>G (p.Thr456Ala)
 gnomAD v4
13g.48381375A>TCA388163820RB1c.1627A>T (p.Thr543Ser)
c.126A>T
c.1366A>T (p.Thr456Ser)
 dbSNP
13g.48381376C>ACA388163822RB1c.1628C>A (p.Thr543Lys)
c.127C>A
c.1367C>A (p.Thr456Lys)
13g.48381376C>GCA388163824RB1c.1628C>G (p.Thr543Arg)
c.127C>G
c.1367C>G (p.Thr456Arg)
 dbSNP
13g.48381376C>TCA388163826RB1c.1628C>T (p.Thr543Ile)
c.127C>T
c.1367C>T (p.Thr456Ile)
 dbSNP
13g.48381376_48381378delinsCAACA2089972480RB1c.1628_1630delinsCAA (p.Thr543=)
c.127_129delinsCAA
c.1367_1369delinsCAA (p.Thr456=)
13g.48381377A=CA2089972482RB1c.1629A= (p.Thr543=)
c.128A=
c.1368A= (p.Thr456=)
13g.48381377A>CCA483559536RB1c.1629A>C (p.Thr543=)
c.128A>C
c.1368A>C (p.Thr456=)
13g.48381377A>GCA483559537RB1c.1629A>G (p.Thr543=)
c.128A>G
c.1368A>G (p.Thr456=)
13g.48381377A>TCA483559538RB1c.1629A>T (p.Thr543=)
c.128A>T
c.1368A>T (p.Thr456=)
 ClinVar dbSNP
13g.48381377_48381378delCA915948555RB1c.1629_1630del (p.Glu545AsnfsTer9)
c.128_129del
c.1368_1369del (p.Glu458AsnfsTer9)
 ClinVar dbSNP
13g.48381378delCA913189107RB1c.1630del (p.Arg544GlufsTer3)
c.129del
c.1369del (p.Arg457GlufsTer3)
13g.48381378A>CCA483559541RB1c.1630A>C (p.Arg544=)
c.129A>C
c.1369A>C (p.Arg457=)
13g.48381378A>GCA388163828RB1c.1630A>G (p.Arg544Gly)
c.129A>G
c.1369A>G (p.Arg457Gly)
 ClinVar dbSNP
13g.48381378A>TCA388163830RB1c.1630A>T (p.Arg544Ter)
c.129A>T
c.1369A>T (p.Arg457Ter)
 dbSNP
13g.48381379G>ACA249281976RB1c.1631G>A (p.Arg544Lys)
c.130G>A
c.1370G>A (p.Arg457Lys)
 dbSNP
13g.48381379G>CCA388163834RB1c.1631G>C (p.Arg544Thr)
c.130G>C
c.1370G>C (p.Arg457Thr)
13g.48381379G=CA2089972484RB1c.1631G= (p.Arg544=)
c.130G=
c.1370G= (p.Arg457=)
13g.48381379G>TCA388163832RB1c.1631G>T (p.Arg544Ile)
c.130G>T
c.1370G>T (p.Arg457Ile)
13g.48381380A=CA2089972487RB1c.1632A= (p.Arg544=)
c.131A=
c.1371A= (p.Arg457=)
13g.48381380A>CCA388163837RB1c.1632A>C (p.Arg544Ser)
c.131A>C
c.1371A>C (p.Arg457Ser)
13g.48381380A>GCA029191RB1c.1632A>G (p.Arg544=)
c.131A>G
c.1371A>G (p.Arg457=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48381380A>TCA029212RB1c.1632A>T (p.Arg544Ser)
c.131A>T
c.1371A>T (p.Arg457Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.48381380_48381388delinsAGAAATGATCA2089972489RB1c.1632_1640delinsAGAAATGAT (p.Arg544=)
c.131_139delinsAGAAATGAT
c.1371_1379delinsAGAAATGAT (p.Arg457=)
13g.48381381G>ACA388163838RB1c.1633G>A (p.Glu545Lys)
c.132G>A
c.1372G>A (p.Glu458Lys)
 dbSNP
13g.48381381G>CCA388163839RB1c.1633G>C (p.Glu545Gln)
c.132G>C
c.1372G>C (p.Glu458Gln)
 ClinVar dbSNP
13g.48381381G=CA2089972493RB1c.1633G= (p.Glu545=)
c.132G=
c.1372G= (p.Glu458=)
13g.48381381G>TCA388163841RB1c.1633G>T (p.Glu545Ter)
c.132G>T
c.1372G>T (p.Glu458Ter)
 ClinVar dbSNP COSMIC COSMIC
13g.48381381_48381388delCA658798146RB1c.1633_1640del (p.Glu545LysfsTer7)
c.132_139del
c.1372_1379del (p.Glu458LysfsTer7)
 ClinVar dbSNP
13g.48381382A>CCA388163843RB1c.1634A>C (p.Glu545Ala)
c.133A>C
c.1373A>C (p.Glu458Ala)
13g.48381382A>GCA388163845RB1c.1634A>G (p.Glu545Gly)
c.133A>G
c.1373A>G (p.Glu458Gly)
13g.48381382A>TCA388163847RB1c.1634A>T (p.Glu545Val)
c.133A>T
c.1373A>T (p.Glu458Val)
13g.48381384delCA2728040319RB1c.1636del (p.Met546Ter)
c.135del
c.1375del (p.Met459Ter)
 dbSNP
13g.48381383_48381384delCA2739277609RB1c.1635_1636del (p.Glu545AspfsTer9)
c.134_135del
c.1374_1375del (p.Glu458AspfsTer9)
 ClinVar
13g.48381383A>CCA388163848RB1c.1635A>C (p.Glu545Asp)
c.134A>C
c.1374A>C (p.Glu458Asp)
13g.48381383A>GCA483559558RB1c.1635A>G (p.Glu545=)
c.134A>G
c.1374A>G (p.Glu458=)
 ClinVar
13g.48381383A>TCA388163850RB1c.1635A>T (p.Glu545Asp)
c.134A>T
c.1374A>T (p.Glu458Asp)
 dbSNP
13g.48381384A>CCA388163852RB1c.1636A>C (p.Met546Leu)
c.135A>C
c.1375A>C (p.Met459Leu)
13g.48381384A>GCA388163854RB1c.1636A>G (p.Met546Val)
c.135A>G
c.1375A>G (p.Met459Val)
13g.48381384A>TCA388163855RB1c.1636A>T (p.Met546Leu)
c.135A>T
c.1375A>T (p.Met459Leu)
13g.48381385delCA2695218506RB1c.1637del (p.Met546ArgfsTer2)
c.136del
c.1376del (p.Met459ArgfsTer2)
13g.48381385T>ACA388163861RB1c.1637T>A (p.Met546Lys)
c.136T>A
c.1376T>A (p.Met459Lys)
 dbSNP
13g.48381385T>CCA388163858RB1c.1637T>C (p.Met546Thr)
c.136T>C
c.1376T>C (p.Met459Thr)
 COSMIC COSMIC
13g.48381385T>GCA388163860RB1c.1637T>G (p.Met546Arg)
c.136T>G
c.1376T>G (p.Met459Arg)
 dbSNP
13g.48381386G>ACA388163862RB1c.1638G>A (p.Met546Ile)
c.137G>A
c.1377G>A (p.Met459Ile)
 dbSNP
13g.48381386G>CCA388163864RB1c.1638G>C (p.Met546Ile)
c.137G>C
c.1377G>C (p.Met459Ile)
 dbSNP
13g.48381386G>TCA388163865RB1c.1638G>T (p.Met546Ile)
c.137G>T
c.1377G>T (p.Met459Ile)
13g.48381387A>CCA388163867RB1c.1639A>C (p.Ile547Leu)
c.138A>C
c.1378A>C (p.Ile460Leu)
13g.48381387A>GCA388163868RB1c.1639A>G (p.Ile547Val)
c.138A>G
c.1378A>G (p.Ile460Val)
 gnomAD v4
13g.48381387A>TCA388163871RB1c.1639A>T (p.Ile547Leu)
c.138A>T
c.1378A>T (p.Ile460Leu)
13g.48381388T>ACA388163873RB1c.1640T>A (p.Ile547Lys)
c.139T>A
c.1379T>A (p.Ile460Lys)
13g.48381388T>CCA388163875RB1c.1640T>C (p.Ile547Thr)
c.139T>C
c.1379T>C (p.Ile460Thr)
13g.48381388T>GCA388163877RB1c.1640T>G (p.Ile547Arg)
c.139T>G
c.1379T>G (p.Ile460Arg)
13g.48381389A>CCA483559574RB1c.1641A>C (p.Ile547=)
c.140A>C
c.1380A>C (p.Ile460=)
 dbSNP
13g.48381389A>GCA388163879RB1c.1641A>G (p.Ile547Met)
c.140A>G
c.1380A>G (p.Ile460Met)
 dbSNP
13g.48381389A>TCA483559577RB1c.1641A>T (p.Ile547=)
c.140A>T
c.1380A>T (p.Ile460=)
 dbSNP
13g.48381392dupCA2695218507RB1c.1644dup (p.His549ThrfsTer6)
c.143dup
c.1383dup (p.His462ThrfsTer6)
 dbSNP
13g.48381392delCA645578679RB1c.1644del (p.Lys548AsnfsTer3)
c.143del
c.1383del (p.Lys461AsnfsTer3)
 COSMIC COSMIC
13g.48381390A>CCA388163881RB1c.1642A>C (p.Lys548Gln)
c.141A>C
c.1381A>C (p.Lys461Gln)
13g.48381390A>GCA388163882RB1c.1642A>G (p.Lys548Glu)
c.141A>G
c.1381A>G (p.Lys461Glu)
 dbSNP
13g.48381390A>TCA388163884RB1c.1642A>T (p.Lys548Ter)
c.141A>T
c.1381A>T (p.Lys461Ter)
 dbSNP
13g.48381391A>CCA388163888RB1c.1643A>C (p.Lys548Thr)
c.142A>C
c.1382A>C (p.Lys461Thr)
 gnomAD v4 COSMIC COSMIC
13g.48381391A>GCA388163890RB1c.1643A>G (p.Lys548Arg)
c.142A>G
c.1382A>G (p.Lys461Arg)
13g.48381391A>TCA388163887RB1c.1643A>T (p.Lys548Ile)
c.142A>T
c.1382A>T (p.Lys461Ile)
 dbSNP
13g.48381392A>CCA388163892RB1c.1644A>C (p.Lys548Asn)
c.143A>C
c.1383A>C (p.Lys461Asn)
 dbSNP COSMIC
13g.48381392A>GCA483559587RB1c.1644A>G (p.Lys548=)
c.143A>G
c.1383A>G (p.Lys461=)
13g.48381392A>TCA388163894RB1c.1644A>T (p.Lys548Asn)
c.143A>T
c.1383A>T (p.Lys461Asn)
 dbSNP
13g.48381393C>ACA388163896RB1c.1645C>A (p.His549Asn)
c.144C>A
c.1384C>A (p.His462Asn)
 ClinVar dbSNP
13g.48381393C=CA2089972495RB1c.1645C= (p.His549=)
c.144C=
c.1384C= (p.His462=)
13g.48381393C>GCA388163898RB1c.1645C>G (p.His549Asp)
c.144C>G
c.1384C>G (p.His462Asp)
 ClinVar dbSNP
13g.48381393C>TCA249281991RB1c.1645C>T (p.His549Tyr)
c.144C>T
c.1384C>T (p.His462Tyr)
 dbSNP gnomAD v3 gnomAD v4
13g.48381394A>CCA388163901RB1c.1646A>C (p.His549Pro)
c.145A>C
c.1385A>C (p.His462Pro)
13g.48381394A>GCA388163903RB1c.1646A>G (p.His549Arg)
c.145A>G
c.1385A>G (p.His462Arg)
 ClinVar dbSNP
13g.48381394A>TCA388163904RB1c.1646A>T (p.His549Leu)
c.145A>T
c.1385A>T (p.His462Leu)
13g.48381395T>ACA388163906RB1c.1647T>A (p.His549Gln)
c.146T>A
c.1386T>A (p.His462Gln)
 dbSNP
13g.48381395T>CCA483559597RB1c.1647T>C (p.His549=)
c.146T>C
c.1386T>C (p.His462=)
 gnomAD v4
13g.48381395T>GCA388163907RB1c.1647T>G (p.His549Gln)
c.146T>G
c.1386T>G (p.His462Gln)
13g.48381397delCA2580574595RB1c.1649del (p.Leu550Ter)
c.148del
c.1388del (p.Leu463Ter)
13g.48381396T>ACA388163909RB1c.1648T>A (p.Leu550Ile)
c.147T>A
c.1387T>A (p.Leu463Ile)
 dbSNP COSMIC COSMIC
13g.48381396T>CCA483559600RB1c.1648T>C (p.Leu550=)
c.147T>C
c.1387T>C (p.Leu463=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48381396T>GCA388163911RB1c.1648T>G (p.Leu550Val)
c.147T>G
c.1387T>G (p.Leu463Val)
13g.48381396T=CA2089972496RB1c.1648T= (p.Leu550=)
c.147T=
c.1387T= (p.Leu463=)
13g.48381397T>ACA388163914RB1c.1649T>A (p.Leu550Ter)
c.148T>A
c.1388T>A (p.Leu463Ter)
 dbSNP
13g.48381397T>CCA388163915RB1c.1649T>C (p.Leu550Ser)
c.148T>C
c.1388T>C (p.Leu463Ser)
13g.48381397T>GCA388163917RB1c.1649T>G (p.Leu550Ter)
c.148T>G
c.1388T>G (p.Leu463Ter)
 COSMIC
13g.48381398delCA483559607RB1c.1650del (p.Glu551AsnfsTer?)
c.149del
c.1389del (p.Glu464AsnfsTer?)
 COSMIC COSMIC
13g.48381398A=CA2089972498RB1c.1650A= (p.Leu550=)
c.149A=
c.1389A= (p.Leu463=)
13g.48381398A>CCA388163919RB1c.1650A>C (p.Leu550Phe)
c.149A>C
c.1389A>C (p.Leu463Phe)
 dbSNP gnomAD v2 gnomAD v4
13g.48381398A>GCA483559610RB1c.1650A>G (p.Leu550=)
c.149A>G
c.1389A>G (p.Leu463=)
 ClinVar dbSNP gnomAD v4
13g.48381398A>TCA388163921RB1c.1650A>T (p.Leu550Phe)
c.149A>T
c.1389A>T (p.Leu463Phe)
 dbSNP
13g.48381399G>ACA249281995RB1c.1651G>A (p.Glu551Lys)
c.150G>A
c.1390G>A (p.Glu464Lys)
 ClinVar dbSNP
13g.48381399G>CCA388163924RB1c.1651G>C (p.Glu551Gln)
c.150G>C
c.1390G>C (p.Glu464Gln)
 dbSNP
13g.48381399G=CA2089972501RB1c.1651G= (p.Glu551=)
c.150G=
c.1390G= (p.Glu464=)
13g.48381399G>TCA388163926RB1c.1651G>T (p.Glu551Ter)
c.150G>T
c.1390G>T (p.Glu464Ter)
 dbSNP
13g.48381400A>CCA388163928RB1c.1652A>C (p.Glu551Ala)
c.151A>C
c.1391A>C (p.Glu464Ala)
13g.48381400A>GCA388163930RB1c.1652A>G (p.Glu551Gly)
c.151A>G
c.1391A>G (p.Glu464Gly)
13g.48381400A>TCA388163931RB1c.1652A>T (p.Glu551Val)
c.151A>T
c.1391A>T (p.Glu464Val)
 dbSNP
13g.48381401A>CCA388163933RB1c.1653A>C (p.Glu551Asp)
c.152A>C
c.1392A>C (p.Glu464Asp)
 dbSNP
13g.48381401A>GCA483559621RB1c.1653A>G (p.Glu551=)
c.152A>G
c.1392A>G (p.Glu464=)
13g.48381401A>TCA388163935RB1c.1653A>T (p.Glu551Asp)
c.152A>T
c.1392A>T (p.Glu464Asp)
 dbSNP
13g.48381402C>ACA483559624RB1c.1654C>A (p.Arg552=)
c.153C>A
c.1393C>A (p.Arg465=)
 dbSNP
13g.48381402C=CA2089972502RB1c.1654C= (p.Arg552=)
c.153C=
c.1393C= (p.Arg465=)
13g.48381402C>GCA388163937RB1c.1654C>G (p.Arg552Gly)
c.153C>G
c.1393C>G (p.Arg465Gly)
 dbSNP
13g.48381402C>TCA026383RB1c.1654C>T (p.Arg552Ter)
c.153C>T
c.1393C>T (p.Arg465Ter)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
13g.48381403G>ACA249282003RB1c.1655G>A (p.Arg552Gln)
c.154G>A
c.1394G>A (p.Arg465Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48381403G>CCA388163941RB1c.1655G>C (p.Arg552Pro)
c.154G>C
c.1394G>C (p.Arg465Pro)
 dbSNP
13g.48381403G=CA2089972504RB1c.1655G= (p.Arg552=)
c.154G=
c.1394G= (p.Arg465=)
13g.48381403G>TCA388163943RB1c.1655G>T (p.Arg552Leu)
c.154G>T
c.1394G>T (p.Arg465Leu)
 ClinVar dbSNP
13g.48381404A>CCA483559631RB1c.1656A>C (p.Arg552=)
c.155A>C
c.1395A>C (p.Arg465=)
13g.48381404A>GCA483559632RB1c.1656A>G (p.Arg552=)
c.155A>G
c.1395A>G (p.Arg465=)
13g.48381404A>TCA483559635RB1c.1656A>T (p.Arg552=)
c.155A>T
c.1395A>T (p.Arg465=)
 dbSNP
13g.48381407_48381422delCA645578680RB1c.1659_1674del (p.Cys553TrpfsTer?)
c.158_173del
c.1398_1413del (p.Cys466TrpfsTer?)
 COSMIC
13g.48381405T>ACA388163945RB1c.1657T>A (p.Cys553Ser)
c.156T>A
c.1396T>A (p.Cys466Ser)
 ClinVar dbSNP gnomAD v4
13g.48381405T>CCA388163949RB1c.1657T>C (p.Cys553Arg)
c.156T>C
c.1396T>C (p.Cys466Arg)
13g.48381405T>GCA388163947RB1c.1657T>G (p.Cys553Gly)
c.156T>G
c.1396T>G (p.Cys466Gly)
13g.48381405T=CA2089972506RB1c.1657T= (p.Cys553=)
c.156T=
c.1396T= (p.Cys466=)
13g.48381406G>ACA388163952RB1c.1658G>A (p.Cys553Tyr)
c.157G>A
c.1397G>A (p.Cys466Tyr)
 dbSNP
13g.48381406G>CCA388163953RB1c.1658G>C (p.Cys553Ser)
c.157G>C
c.1397G>C (p.Cys466Ser)
 dbSNP
13g.48381406G>TCA388163954RB1c.1658G>T (p.Cys553Phe)
c.157G>T
c.1397G>T (p.Cys466Phe)
13g.48381407T>ACA388163957RB1c.1659T>A (p.Cys553Ter)
c.158T>A
c.1398T>A (p.Cys466Ter)
 ClinVar dbSNP
13g.48381407T>CCA483559641RB1c.1659T>C (p.Cys553=)
c.158T>C
c.1398T>C (p.Cys466=)
 dbSNP
13g.48381407T>GCA388163959RB1c.1659T>G (p.Cys553Trp)
c.158T>G
c.1398T>G (p.Cys466Trp)
13g.48381407T=CA2089972507RB1c.1659T= (p.Cys553=)
c.158T=
c.1398T= (p.Cys466=)
13g.48381408G>ACA388163960RB1c.1660G>A (p.Glu554Lys)
c.159G>A
c.1399G>A (p.Glu467Lys)
 dbSNP
13g.48381408G>CCA388163962RB1c.1660G>C (p.Glu554Gln)
c.159G>C
c.1399G>C (p.Glu467Gln)
 dbSNP
13g.48381408G>TCA388163963RB1c.1660G>T (p.Glu554Ter)
c.159G>T
c.1399G>T (p.Glu467Ter)
 COSMIC COSMIC
13g.48381409A>CCA388163965RB1c.1661A>C (p.Glu554Ala)
c.160A>C
c.1400A>C (p.Glu467Ala)
13g.48381409A>GCA388163966RB1c.1661A>G (p.Glu554Gly)
c.160A>G
c.1400A>G (p.Glu467Gly)
 ClinVar dbSNP
13g.48381409A>TCA388163968RB1c.1661A>T (p.Glu554Val)
c.160A>T
c.1400A>T (p.Glu467Val)
13g.48381410A>CCA388163970RB1c.1662A>C (p.Glu554Asp)
c.161A>C
c.1401A>C (p.Glu467Asp)
13g.48381410A>GCA483559642RB1c.1662A>G (p.Glu554=)
c.161A>G
c.1401A>G (p.Glu467=)
13g.48381410A>TCA388163972RB1c.1662A>T (p.Glu554Asp)
c.161A>T
c.1401A>T (p.Glu467Asp)
 dbSNP
13g.48381411C>ACA388163974RB1c.1663C>A (p.His555Asn)
c.162C>A
c.1402C>A (p.His468Asn)
13g.48381411C=CA2089972508RB1c.1663C= (p.His555=)
c.162C=
c.1402C= (p.His468=)
13g.48381411C>GCA388163977RB1c.1663C>G (p.His555Asp)
c.162C>G
c.1402C>G (p.His468Asp)
 dbSNP
13g.48381411C>TCA029262RB1c.1663C>T (p.His555Tyr)
c.162C>T
c.1402C>T (p.His468Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
13g.48381412A=CA2089972510RB1c.1664A= (p.His555=)
c.163A=
c.1403A= (p.His468=)
13g.48381412A>CCA388163979RB1c.1664A>C (p.His555Pro)
c.163A>C
c.1403A>C (p.His468Pro)
 COSMIC COSMIC
13g.48381412A>GCA388163981RB1c.1664A>G (p.His555Arg)
c.163A>G
c.1403A>G (p.His468Arg)
 ClinVar dbSNP gnomAD v4
13g.48381412A>TCA388163982RB1c.1664A>T (p.His555Leu)
c.163A>T
c.1403A>T (p.His468Leu)
 dbSNP
13g.48381413T>ACA388163985RB1c.1665T>A (p.His555Gln)
c.164T>A
c.1404T>A (p.His468Gln)
 dbSNP
13g.48381413T>CCA483559643RB1c.1665T>C (p.His555=)
c.164T>C
c.1404T>C (p.His468=)
13g.48381413T>GCA388163987RB1c.1665T>G (p.His555Gln)
c.164T>G
c.1404T>G (p.His468Gln)
13g.48381414C>ACA483559644RB1c.1666C>A (p.Arg556=)
c.165C>A
c.1405C>A (p.Arg469=)
 dbSNP
13g.48381414C=CA2089972515RB1c.1666C= (p.Arg556=)
c.165C=
c.1405C= (p.Arg469=)
13g.48381414C>GCA388163988RB1c.1666C>G (p.Arg556Gly)
c.165C>G
c.1405C>G (p.Arg469Gly)
 dbSNP
13g.48381414C>TCA026386RB1c.1666C>T (p.Arg556Ter)
c.165C>T
c.1405C>T (p.Arg469Ter)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
13g.48381415G>ACA029288RB1c.1667G>A (p.Arg556Gln)
c.166G>A
c.1406G>A (p.Arg469Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.48381415G>CCA388163992RB1c.1667G>C (p.Arg556Pro)
c.166G>C
c.1406G>C (p.Arg469Pro)
13g.48381415G=CA2089972524RB1c.1667G= (p.Arg556=)
c.166G=
c.1406G= (p.Arg469=)
13g.48381415G>TCA388163994RB1c.1667G>T (p.Arg556Leu)
c.166G>T
c.1406G>T (p.Arg469Leu)
 ClinVar dbSNP gnomAD v4
13g.48381416A>CCA483559647RB1c.1668A>C (p.Arg556=)
c.167A>C
c.1407A>C (p.Arg469=)
 ClinVar
13g.48381416A>GCA483559646RB1c.1668A>G (p.Arg556=)
c.167A>G
c.1407A>G (p.Arg469=)
13g.48381416A>TCA483559645RB1c.1668A>T (p.Arg556=)
c.167A>T
c.1407A>T (p.Arg469=)
 dbSNP gnomAD v4
13g.48381417delCA2695218508RB1c.1669del (p.Ile557SerfsTer?)
c.168del
c.1408del (p.Ile470SerfsTer?)
13g.48381417A=CA2089972526RB1c.1669A= (p.Ile557=)
c.168A=
c.1408A= (p.Ile470=)
13g.48381417A>CCA388163997RB1c.1669A>C (p.Ile557Leu)
c.168A>C
c.1408A>C (p.Ile470Leu)
 ClinVar dbSNP gnomAD v4
13g.48381417A>GCA388164000RB1c.1669A>G (p.Ile557Val)
c.168A>G
c.1408A>G (p.Ile470Val)
 ClinVar dbSNP gnomAD v4
13g.48381417A>TCA388163998RB1c.1669A>T (p.Ile557Phe)
c.168A>T
c.1408A>T (p.Ile470Phe)
 dbSNP
13g.48381417_48381418insGGCTTTTAAATCA2510345242RB1c.1669_1670insGGCTTTTAAAT (p.Ile557ArgfsTer?)
c.168_169insGGCTTTTAAAT
c.1408_1409insGGCTTTTAAAT (p.Ile470ArgfsTer?)
13g.48381418T>ACA388164003RB1c.1670T>A (p.Ile557Asn)
c.169T>A
c.1409T>A (p.Ile470Asn)
 dbSNP
13g.48381418T>CCA388164006RB1c.1670T>C (p.Ile557Thr)
c.169T>C
c.1409T>C (p.Ile470Thr)
13g.48381418T>GCA388164004RB1c.1670T>G (p.Ile557Ser)
c.169T>G
c.1409T>G (p.Ile470Ser)
13g.48381419C>ACA483559648RB1c.1671C>A (p.Ile557=)
c.170C>A
c.1410C>A (p.Ile470=)
 dbSNP
13g.48381419C>GCA388164008RB1c.1671C>G (p.Ile557Met)
c.170C>G
c.1410C>G (p.Ile470Met)
 dbSNP
13g.48381419C>TCA483559649RB1c.1671C>T (p.Ile557=)
c.170C>T
c.1410C>T (p.Ile470=)
 dbSNP
13g.48381420delCA2739291800RB1c.1672del (p.Met558TrpfsTer?)
c.171del
c.1411del (p.Met471TrpfsTer?)
13g.48381420A=CA2089972532RB1c.1672A= (p.Met558=)
c.171A=
c.1411A= (p.Met471=)
13g.48381420A>CCA388164012RB1c.1672A>C (p.Met558Leu)
c.171A>C
c.1411A>C (p.Met471Leu)
 ClinVar dbSNP
13g.48381420A>GCA388164011RB1c.1672A>G (p.Met558Val)
c.171A>G
c.1411A>G (p.Met471Val)
 ClinVar dbSNP gnomAD v2
13g.48381420A>TCA388164014RB1c.1672A>T (p.Met558Leu)
c.171A>T
c.1411A>T (p.Met471Leu)
13g.48381421T>ACA388164017RB1c.1673T>A (p.Met558Lys)
c.172T>A
c.1412T>A (p.Met471Lys)
13g.48381421T>CCA388164019RB1c.1673T>C (p.Met558Thr)
c.172T>C
c.1412T>C (p.Met471Thr)
 ClinVar
13g.48381421T>GCA249282019RB1c.1673T>G (p.Met558Arg)
c.172T>G
c.1412T>G (p.Met471Arg)
 dbSNP
13g.48381421T=CA2089972549RB1c.1673T= (p.Met558=)
c.172T=
c.1412T= (p.Met471=)
13g.48381421_48381422dupCA16614058RB1c.1673_1674dup (p.Glu559TrpfsTer?)
c.172_173dup
c.1412_1413dup (p.Glu472TrpfsTer?)
 ClinVar dbSNP
13g.48381422G>ACA388164021RB1c.1674G>A (p.Met558Ile)
c.173G>A
c.1413G>A (p.Met471Ile)
 dbSNP
13g.48381422G>CCA388164025RB1c.1674G>C (p.Met558Ile)
c.173G>C
c.1413G>C (p.Met471Ile)
 dbSNP
13g.48381422G>TCA388164023RB1c.1674G>T (p.Met558Ile)
c.173G>T
c.1413G>T (p.Met471Ile)
 dbSNP
13g.48381423delCA2573149616RB1c.1675del (p.Glu559AsnfsTer?)
c.174del
c.1414del (p.Glu472AsnfsTer?)
 ClinVar dbSNP
13g.48381423G>ACA388164027RB1c.1675G>A (p.Glu559Lys)
c.174G>A
c.1414G>A (p.Glu472Lys)
 ClinVar dbSNP
13g.48381423G>CCA388164029RB1c.1675G>C (p.Glu559Gln)
c.174G>C
c.1414G>C (p.Glu472Gln)
 ClinVar dbSNP
13g.48381423G=CA2089972559RB1c.1675G= (p.Glu559=)
c.174G=
c.1414G= (p.Glu472=)
13g.48381423G>TCA388164031RB1c.1675G>T (p.Glu559Ter)
c.174G>T
c.1414G>T (p.Glu472Ter)
 dbSNP gnomAD v2
13g.48381424A>CCA388164033RB1c.1676A>C (p.Glu559Ala)
c.175A>C
c.1415A>C (p.Glu472Ala)
13g.48381424A>GCA388164034RB1c.1676A>G (p.Glu559Gly)
c.175A>G
c.1415A>G (p.Glu472Gly)
 dbSNP
13g.48381424A>TCA388164035RB1c.1676A>T (p.Glu559Val)
c.175A>T
c.1415A>T (p.Glu472Val)
 dbSNP
13g.48381425A=CA2089972565RB1c.1677A= (p.Glu559=)
c.176A=
c.1416A= (p.Glu472=)
13g.48381425A>CCA388164036RB1c.1677A>C (p.Glu559Asp)
c.176A>C
c.1416A>C (p.Glu472Asp)
 dbSNP
13g.48381425A>GCA483559650RB1c.1677A>G (p.Glu559=)
c.176A>G
c.1416A>G (p.Glu472=)
13g.48381425A>TCA026387RB1c.1677A>T (p.Glu559Asp)
c.176A>T
c.1416A>T (p.Glu472Asp)
 ClinVar dbSNP
13g.48381426T>ACA388164037RB1c.1678T>A (p.Ser560Thr)
c.177T>A
c.1417T>A (p.Ser473Thr)
 ClinVar
13g.48381426T>CCA388164038RB1c.1678T>C (p.Ser560Pro)
c.177T>C
c.1417T>C (p.Ser473Pro)
 ClinVar dbSNP
13g.48381426T>GCA388164039RB1c.1678T>G (p.Ser560Ala)
c.177T>G
c.1417T>G (p.Ser473Ala)
13g.48381426T=CA2089972570RB1c.1678T= (p.Ser560=)
c.177T=
c.1417T= (p.Ser473=)
13g.48381427C>ACA388164042RB1c.1679C>A (p.Ser560Tyr)
c.178C>A
c.1418C>A (p.Ser473Tyr)
 dbSNP
13g.48381427C=CA2089972578RB1c.1679C= (p.Ser560=)
c.178C=
c.1418C= (p.Ser473=)
13g.48381427C>GCA388164040RB1c.1679C>G (p.Ser560Cys)
c.178C>G
c.1418C>G (p.Ser473Cys)
 dbSNP
13g.48381427C>TCA388164041RB1c.1679C>T (p.Ser560Phe)
c.178C>T
c.1418C>T (p.Ser473Phe)
 dbSNP
13g.48381428C>ACA483559651RB1c.1680C>A (p.Ser560=)
c.179C>A
c.1419C>A (p.Ser473=)
 dbSNP
13g.48381428C>GCA483559652RB1c.1680C>G (p.Ser560=)
c.179C>G
c.1419C>G (p.Ser473=)
 dbSNP
13g.48381428C>TCA483559653RB1c.1680C>T (p.Ser560=)
c.179C>T
c.1419C>T (p.Ser473=)
13g.48381429C>ACA388164043RB1c.1681C>A (p.Leu561Ile)
c.180C>A
c.1420C>A (p.Leu474Ile)
 dbSNP
13g.48381429C=CA2089972583RB1c.1681C= (p.Leu561=)
c.180C=
c.1420C= (p.Leu474=)
13g.48381429C>GCA388164044RB1c.1681C>G (p.Leu561Val)
c.180C>G
c.1420C>G (p.Leu474Val)
13g.48381429C>TCA029297RB1c.1681C>T (p.Leu561Phe)
c.180C>T
c.1420C>T (p.Leu474Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48381430T>ACA388164045RB1c.1682T>A (p.Leu561His)
c.181T>A
c.1421T>A (p.Leu474His)
 dbSNP
13g.48381430T>CCA249282023RB1c.1682T>C (p.Leu561Pro)
c.181T>C
c.1421T>C (p.Leu474Pro)
 dbSNP
13g.48381430T>GCA388164046RB1c.1682T>G (p.Leu561Arg)
c.181T>G
c.1421T>G (p.Leu474Arg)
13g.48381430T=CA2089972590RB1c.1682T= (p.Leu561=)
c.181T=
c.1421T= (p.Leu474=)
13g.48381431dupCA2695218509RB1c.1683dup (p.Ala562CysfsTer10)
c.182dup
c.1422dup (p.Ala475CysfsTer10)
13g.48381431T>ACA483559654RB1c.1683T>A (p.Leu561=)
c.182T>A
c.1422T>A (p.Leu474=)
 dbSNP
13g.48381431T>CCA249282024RB1c.1683T>C (p.Leu561=)
c.182T>C
c.1422T>C (p.Leu474=)
 dbSNP
13g.48381431T>GCA483559655RB1c.1683T>G (p.Leu561=)
c.182T>G
c.1422T>G (p.Leu474=)
 ClinVar gnomAD v3 gnomAD v4
13g.48381431T=CA2089972594RB1c.1683T= (p.Leu561=)
c.182T=
c.1422T= (p.Leu474=)
13g.48381432G>ACA388164047RB1c.1684G>A (p.Ala562Thr)
c.183G>A
c.1423G>A (p.Ala475Thr)
 ClinVar dbSNP
13g.48381432G>CCA388164048RB1c.1684G>C (p.Ala562Pro)
c.183G>C
c.1423G>C (p.Ala475Pro)
 ClinVar dbSNP COSMIC COSMIC
13g.48381432G>TCA388164049RB1c.1684G>T (p.Ala562Ser)
c.183G>T
c.1423G>T (p.Ala475Ser)
 ClinVar gnomAD v4
13g.48381433C>ACA388164051RB1c.1685C>A (p.Ala562Glu)
c.184C>A
c.1424C>A (p.Ala475Glu)
13g.48381433C=CA2089972597RB1c.1685C= (p.Ala562=)
c.184C=
c.1424C= (p.Ala475=)
13g.48381433C>GCA388164052RB1c.1685C>G (p.Ala562Gly)
c.184C>G
c.1424C>G (p.Ala475Gly)
 dbSNP
13g.48381433C>TCA388164050RB1c.1685C>T (p.Ala562Val)
c.184C>T
c.1424C>T (p.Ala475Val)
 ClinVar dbSNP
13g.48381434A=CA2089972598RB1c.1686A= (p.Ala562=)
c.185A=
c.1425A= (p.Ala475=)
13g.48381434A>CCA483559656RB1c.1686A>C (p.Ala562=)
c.185A>C
c.1425A>C (p.Ala475=)
 ClinVar dbSNP
13g.48381434A>GCA483559657RB1c.1686A>G (p.Ala562=)
c.185A>G
c.1425A>G (p.Ala475=)
 ClinVar dbSNP
13g.48381434A>TCA483559658RB1c.1686A>T (p.Ala562=)
c.185A>T
c.1425A>T (p.Ala475=)
 dbSNP
13g.48381434dupCA915948556RB1c.1686dup (p.Trp563MetfsTer9)
c.185dup
c.1425dup (p.Trp476MetfsTer9)
 ClinVar dbSNP
13g.48381435T>ACA388164053RB1c.1687T>A (p.Trp563Arg)
c.186T>A
c.1426T>A (p.Trp476Arg)
13g.48381435T>CCA388164054RB1c.1687T>C (p.Trp563Arg)
c.186T>C
c.1426T>C (p.Trp476Arg)
13g.48381435T>GCA249282026RB1c.1687T>G (p.Trp563Gly)
c.186T>G
c.1426T>G (p.Trp476Gly)
 dbSNP
13g.48381435T=CA2089972606RB1c.1687T= (p.Trp563=)
c.186T=
c.1426T= (p.Trp476=)
13g.48381436G>ACA026388RB1c.1688G>A (p.Trp563Ter)
c.187G>A
c.1427G>A (p.Trp476Ter)
 ClinVar dbSNP
13g.48381436G>CCA388164055RB1c.1688G>C (p.Trp563Ser)
c.187G>C
c.1427G>C (p.Trp476Ser)
 dbSNP
13g.48381436G=CA2089972609RB1c.1688G= (p.Trp563=)
c.187G=
c.1427G= (p.Trp476=)
13g.48381436G>TCA388164056RB1c.1688G>T (p.Trp563Leu)
c.187G>T
c.1427G>T (p.Trp476Leu)
 dbSNP
13g.48381437G>ACA388164057RB1c.1689G>A (p.Trp563Ter)
c.188G>A
c.1428G>A (p.Trp476Ter)
 dbSNP COSMIC
13g.48381437G>CCA388164058RB1c.1689G>C (p.Trp563Cys)
c.188G>C
c.1428G>C (p.Trp476Cys)
 dbSNP
13g.48381437G>TCA388164059RB1c.1689G>T (p.Trp563Cys)
c.188G>T
c.1428G>T (p.Trp476Cys)
 dbSNP
13g.48381438C>ACA388164060RB1c.1690C>A (p.Leu564Ile)
c.189C>A
c.1429C>A (p.Leu477Ile)
 dbSNP
13g.48381438C>GCA388164061RB1c.1690C>G (p.Leu564Val)
c.189C>G
c.1429C>G (p.Leu477Val)
 ClinVar dbSNP COSMIC COSMIC
13g.48381438C>TCA388164062RB1c.1690C>T (p.Leu564Phe)
c.189C>T
c.1429C>T (p.Leu477Phe)
 ClinVar dbSNP
13g.48381441_48381442dupCA2695218510RB1c.1693_1694dup (p.Asp566GlnfsTer?)
c.192_193dup
c.1432_1433dup (p.Asp479GlnfsTer?)
13g.48381439T>ACA388164065RB1c.1691T>A (p.Leu564His)
c.190T>A
c.1430T>A (p.Leu477His)
 dbSNP
13g.48381439T>CCA388164063RB1c.1691T>C (p.Leu564Pro)
c.190T>C
c.1430T>C (p.Leu477Pro)
13g.48381439T>GCA388164064RB1c.1691T>G (p.Leu564Arg)
c.190T>G
c.1430T>G (p.Leu477Arg)
13g.48381440C>ACA483559659RB1c.1692C>A (p.Leu564=)
c.191C>A
c.1431C>A (p.Leu477=)
 dbSNP
13g.48381440C=CA2089972616RB1c.1692C= (p.Leu564=)
c.191C=
c.1431C= (p.Leu477=)
13g.48381440C>GCA483559660RB1c.1692C>G (p.Leu564=)
c.191C>G
c.1431C>G (p.Leu477=)
 ClinVar dbSNP
13g.48381440C>TCA483559661RB1c.1692C>T (p.Leu564=)
c.191C>T
c.1431C>T (p.Leu477=)
 ClinVar dbSNP
13g.48381441T>ACA388164066RB1c.1693T>A (p.Ser565Thr)
c.192T>A
c.1432T>A (p.Ser478Thr)
 dbSNP
13g.48381441T>CCA249282041RB1c.1693T>C (p.Ser565Pro)
c.192T>C
c.1432T>C (p.Ser478Pro)
 ClinVar dbSNP
13g.48381441T>GCA388164067RB1c.1693T>G (p.Ser565Ala)
c.192T>G
c.1432T>G (p.Ser478Ala)
13g.48381441T=CA2089972620RB1c.1693T= (p.Ser565=)
c.192T=
c.1432T= (p.Ser478=)
13g.48381442_48381445delCA2695218511RB1c.1694_1695+2del
c.193_194+2del
c.1433_1434+2del
13g.48381442C>ACA388164068RB1c.1694C>A (p.Ser565Ter)
c.193C>A
c.1433C>A (p.Ser478Ter)
 dbSNP
13g.48381442C>GCA388164069RB1c.1694C>G (p.Ser565Ter)
c.193C>G
c.1433C>G (p.Ser478Ter)
 dbSNP
13g.48381442C>TCA388164070RB1c.1694C>T (p.Ser565Leu)
c.193C>T
c.1433C>T (p.Ser478Leu)
 dbSNP
13g.48381442_48381443delCA645578681RB1c.1694_1695del (p.Ser565Ter)
c.193_194del
c.1433_1434del (p.Ser478Ter)
 COSMIC COSMIC

Number of alleles fetched