Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.54627885C>ACA370980948RP1c.4003C>A (p.Pro1335Thr)
c.787+5597C>A (n.787+5597C>A)
c.4024C>A (p.Pro1342Thr)
8g.54627885C>GCA370980950RP1c.4003C>G (p.Pro1335Ala)
c.787+5597C>G (n.787+5597C>G)
c.4024C>G (p.Pro1342Ala)
 gnomAD v4
8g.54627885C>TCA370980953RP1c.4003C>T (p.Pro1335Ser)
c.787+5597C>T (n.787+5597C>T)
c.4024C>T (p.Pro1342Ser)
 COSMIC
8g.54627886C>ACA370980956RP1c.4004C>A (p.Pro1335His)
c.787+5598C>A (n.787+5598C>A)
c.4025C>A (p.Pro1342His)
 COSMIC
8g.54627886C>GCA370980960RP1c.4004C>G (p.Pro1335Arg)
c.787+5598C>G (n.787+5598C>G)
c.4025C>G (p.Pro1342Arg)
8g.54627886C>TCA370980958RP1c.4004C>T (p.Pro1335Leu)
c.787+5598C>T (n.787+5598C>T)
c.4025C>T (p.Pro1342Leu)
 COSMIC
8g.54627887T>ACA461099651RP1c.4005T>A (p.Pro1335=)
c.787+5599T>A (n.787+5599T>A)
c.4026T>A (p.Pro1342=)
8g.54627887T>CCA461099652RP1c.4005T>C (p.Pro1335=)
c.787+5599T>C (n.787+5599T>C)
c.4026T>C (p.Pro1342=)
 gnomAD v4
8g.54627887T>GCA461099655RP1c.4005T>G (p.Pro1335=)
c.787+5599T>G (n.787+5599T>G)
c.4026T>G (p.Pro1342=)
8g.54627888G>ACA370980963RP1c.4006G>A (p.Val1336Ile)
c.787+5600G>A (n.787+5600G>A)
c.4027G>A (p.Val1343Ile)
 ClinVar
8g.54627888G>CCA370980966RP1c.4006G>C (p.Val1336Leu)
c.787+5600G>C (n.787+5600G>C)
c.4027G>C (p.Val1343Leu)
8g.54627888G>TCA370980968RP1c.4006G>T (p.Val1336Phe)
c.787+5600G>T (n.787+5600G>T)
c.4027G>T (p.Val1343Phe)
8g.54627889T>ACA370980971RP1c.4007T>A (p.Val1336Asp)
c.787+5601T>A (n.787+5601T>A)
c.4028T>A (p.Val1343Asp)
8g.54627889T>CCA370980972RP1c.4007T>C (p.Val1336Ala)
c.787+5601T>C (n.787+5601T>C)
c.4028T>C (p.Val1343Ala)
8g.54627889T>GCA370980975RP1c.4007T>G (p.Val1336Gly)
c.787+5601T>G (n.787+5601T>G)
c.4028T>G (p.Val1343Gly)
8g.54627890C>ACA461099659RP1c.4008C>A (p.Val1336=)
c.787+5602C>A (n.787+5602C>A)
c.4029C>A (p.Val1343=)
8g.54627890C>GCA461099660RP1c.4008C>G (p.Val1336=)
c.787+5602C>G (n.787+5602C>G)
c.4029C>G (p.Val1343=)
 dbSNP
8g.54627890C>TCA461099661RP1c.4008C>T (p.Val1336=)
c.787+5602C>T (n.787+5602C>T)
c.4029C>T (p.Val1343=)
8g.54627891A>CCA370980977RP1c.4009A>C (p.Asn1337His)
c.787+5603A>C (n.787+5603A>C)
c.4030A>C (p.Asn1344His)
8g.54627891A>GCA370980979RP1c.4009A>G (p.Asn1337Asp)
c.787+5603A>G (n.787+5603A>G)
c.4030A>G (p.Asn1344Asp)
8g.54627891A>TCA370980981RP1c.4009A>T (p.Asn1337Tyr)
c.787+5603A>T (n.787+5603A>T)
c.4030A>T (p.Asn1344Tyr)
8g.54627892A>CCA370980983RP1c.4010A>C (p.Asn1337Thr)
c.787+5604A>C (n.787+5604A>C)
c.4031A>C (p.Asn1344Thr)
8g.54627892A>GCA370980984RP1c.4010A>G (p.Asn1337Ser)
c.787+5604A>G (n.787+5604A>G)
c.4031A>G (p.Asn1344Ser)
 gnomAD v4
8g.54627892A>TCA370980986RP1c.4010A>T (p.Asn1337Ile)
c.787+5604A>T (n.787+5604A>T)
c.4031A>T (p.Asn1344Ile)
8g.54627893T>ACA370980991RP1c.4011T>A (p.Asn1337Lys)
c.787+5605T>A (n.787+5605T>A)
c.4032T>A (p.Asn1344Lys)
8g.54627893T>CCA4751788RP1c.4011T>C (p.Asn1337=)
c.787+5605T>C (n.787+5605T>C)
c.4032T>C (p.Asn1344=)
 dbSNP ExAC gnomAD v2 COSMIC
8g.54627893T>GCA370980989RP1c.4011T>G (p.Asn1337Lys)
c.787+5605T>G (n.787+5605T>G)
c.4032T>G (p.Asn1344Lys)
8g.54627893T=CA1785188933RP1c.4011T= (p.Asn1337=)
c.787+5605T= (n.787+5605T=)
c.4032T= (p.Asn1344=)
8g.54627894G>ACA370980995RP1c.4012G>A (p.Val1338Ile)
c.787+5606G>A (n.787+5606G>A)
c.4033G>A (p.Val1345Ile)
8g.54627894G>CCA370980996RP1c.4012G>C (p.Val1338Leu)
c.787+5606G>C (n.787+5606G>C)
c.4033G>C (p.Val1345Leu)
8g.54627894G>TCA370980999RP1c.4012G>T (p.Val1338Phe)
c.787+5606G>T (n.787+5606G>T)
c.4033G>T (p.Val1345Phe)
8g.54627895T>ACA370981000RP1c.4013T>A (p.Val1338Asp)
c.787+5607T>A (n.787+5607T>A)
c.4034T>A (p.Val1345Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.54627895T>CCA370981003RP1c.4013T>C (p.Val1338Ala)
c.787+5607T>C (n.787+5607T>C)
c.4034T>C (p.Val1345Ala)
 COSMIC
8g.54627895T>GCA4751789RP1c.4013T>G (p.Val1338Gly)
c.787+5607T>G (n.787+5607T>G)
c.4034T>G (p.Val1345Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54627895T=CA1785188934RP1c.4013T= (p.Val1338=)
c.787+5607T= (n.787+5607T=)
c.4034T= (p.Val1345=)
8g.54627896C>ACA461099675RP1c.4014C>A (p.Val1338=)
c.787+5608C>A (n.787+5608C>A)
c.4035C>A (p.Val1345=)
8g.54627896C>GCA461099673RP1c.4014C>G (p.Val1338=)
c.787+5608C>G (n.787+5608C>G)
c.4035C>G (p.Val1345=)
 gnomAD v4
8g.54627896C>TCA461099674RP1c.4014C>T (p.Val1338=)
c.787+5608C>T (n.787+5608C>T)
c.4035C>T (p.Val1345=)
8g.54627897T>ACA370981008RP1c.4015T>A (p.Cys1339Ser)
c.787+5609T>A (n.787+5609T>A)
c.4036T>A (p.Cys1346Ser)
8g.54627897T>CCA370981011RP1c.4015T>C (p.Cys1339Arg)
c.787+5609T>C (n.787+5609T>C)
c.4036T>C (p.Cys1346Arg)
8g.54627897T>GCA370981013RP1c.4015T>G (p.Cys1339Gly)
c.787+5609T>G (n.787+5609T>G)
c.4036T>G (p.Cys1346Gly)
8g.54627898G>ACA370981015RP1c.4016G>A (p.Cys1339Tyr)
c.787+5610G>A (n.787+5610G>A)
c.4037G>A (p.Cys1346Tyr)
8g.54627898G>CCA370981018RP1c.4016G>C (p.Cys1339Ser)
c.787+5610G>C (n.787+5610G>C)
c.4037G>C (p.Cys1346Ser)
8g.54627898G>TCA370981020RP1c.4016G>T (p.Cys1339Phe)
c.787+5610G>T (n.787+5610G>T)
c.4037G>T (p.Cys1346Phe)
8g.54627899C>ACA370981024RP1c.4017C>A (p.Cys1339Ter)
c.787+5611C>A (n.787+5611C>A)
c.4038C>A (p.Cys1346Ter)
8g.54627899C=CA1785188935RP1c.4017C= (p.Cys1339=)
c.787+5611C= (n.787+5611C=)
c.4038C= (p.Cys1346=)
8g.54627899C>GCA370981023RP1c.4017C>G (p.Cys1339Trp)
c.787+5611C>G (n.787+5611C>G)
c.4038C>G (p.Cys1346Trp)
8g.54627899C>TCA461099677RP1c.4017C>T (p.Cys1339=)
c.787+5611C>T (n.787+5611C>T)
c.4038C>T (p.Cys1346=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54627900A=CA1785188936RP1c.4018A= (p.Asn1340=)
c.787+5612A= (n.787+5612A=)
c.4039A= (p.Asn1347=)
8g.54627900A>CCA370981028RP1c.4018A>C (p.Asn1340His)
c.787+5612A>C (n.787+5612A>C)
c.4039A>C (p.Asn1347His)
8g.54627900A>GCA370981031RP1c.4018A>G (p.Asn1340Asp)
c.787+5612A>G (n.787+5612A>G)
c.4039A>G (p.Asn1347Asp)
 dbSNP gnomAD v2 gnomAD v4
8g.54627900A>TCA370981030RP1c.4018A>T (p.Asn1340Tyr)
c.787+5612A>T (n.787+5612A>T)
c.4039A>T (p.Asn1347Tyr)
 gnomAD v4
8g.54627901A>CCA370981039RP1c.4019A>C (p.Asn1340Thr)
c.787+5613A>C (n.787+5613A>C)
c.4040A>C (p.Asn1347Thr)
8g.54627901A>GCA370981041RP1c.4019A>G (p.Asn1340Ser)
c.787+5613A>G (n.787+5613A>G)
c.4040A>G (p.Asn1347Ser)
8g.54627901A>TCA370981044RP1c.4019A>T (p.Asn1340Ile)
c.787+5613A>T (n.787+5613A>T)
c.4040A>T (p.Asn1347Ile)
8g.54627902T>ACA370981046RP1c.4020T>A (p.Asn1340Lys)
c.787+5614T>A (n.787+5614T>A)
c.4041T>A (p.Asn1347Lys)
8g.54627902T>CCA461099777RP1c.4020T>C (p.Asn1340=)
c.787+5614T>C (n.787+5614T>C)
c.4041T>C (p.Asn1347=)
8g.54627902T>GCA370981048RP1c.4020T>G (p.Asn1340Lys)
c.787+5614T>G (n.787+5614T>G)
c.4041T>G (p.Asn1347Lys)
8g.54627903A>CCA370981051RP1c.4021A>C (p.Thr1341Pro)
c.787+5615A>C (n.787+5615A>C)
c.4042A>C (p.Thr1348Pro)
8g.54627903A>GCA370981053RP1c.4021A>G (p.Thr1341Ala)
c.787+5615A>G (n.787+5615A>G)
c.4042A>G (p.Thr1348Ala)
 gnomAD v4
8g.54627903A>TCA370981055RP1c.4021A>T (p.Thr1341Ser)
c.787+5615A>T (n.787+5615A>T)
c.4042A>T (p.Thr1348Ser)
8g.54627904C>ACA370981058RP1c.4022C>A (p.Thr1341Asn)
c.787+5616C>A (n.787+5616C>A)
c.4043C>A (p.Thr1348Asn)
 gnomAD v4
8g.54627904C=CA1785188937RP1c.4022C= (p.Thr1341=)
c.787+5616C= (n.787+5616C=)
c.4043C= (p.Thr1348=)
8g.54627904C>GCA177181066RP1c.4022C>G (p.Thr1341Ser)
c.787+5616C>G (n.787+5616C>G)
c.4043C>G (p.Thr1348Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54627904C>TCA370981060RP1c.4022C>T (p.Thr1341Ile)
c.787+5616C>T (n.787+5616C>T)
c.4043C>T (p.Thr1348Ile)
8g.54627904_54627905insAGTCA2780387039RP1c.4022_4023insAGT (p.Thr1341_Ile1342insVal)
c.787+5616_787+5617insAGT (n.787+5616_787+5617insAGT)
c.4043_4044insAGT (p.Thr1348_Ile1349insVal)
8g.54627905C>ACA461099780RP1c.4023C>A (p.Thr1341=)
c.787+5617C>A (n.787+5617C>A)
c.4044C>A (p.Thr1348=)
8g.54627905C>GCA461099781RP1c.4023C>G (p.Thr1341=)
c.787+5617C>G (n.787+5617C>G)
c.4044C>G (p.Thr1348=)
8g.54627905C>TCA461099782RP1c.4023C>T (p.Thr1341=)
c.787+5617C>T (n.787+5617C>T)
c.4044C>T (p.Thr1348=)
8g.54627906A=CA1785188938RP1c.4024A= (p.Ile1342=)
c.787+5618A= (n.787+5618A=)
c.4045A= (p.Ile1349=)
8g.54627906A>CCA370981066RP1c.4024A>C (p.Ile1342Leu)
c.787+5618A>C (n.787+5618A>C)
c.4045A>C (p.Ile1349Leu)
8g.54627906A>GCA370981064RP1c.4024A>G (p.Ile1342Val)
c.787+5618A>G (n.787+5618A>G)
c.4045A>G (p.Ile1349Val)
 dbSNP gnomAD v2 gnomAD v4
8g.54627906A>TCA370981063RP1c.4024A>T (p.Ile1342Phe)
c.787+5618A>T (n.787+5618A>T)
c.4045A>T (p.Ile1349Phe)
8g.54627907T>ACA370981069RP1c.4025T>A (p.Ile1342Asn)
c.787+5619T>A (n.787+5619T>A)
c.4046T>A (p.Ile1349Asn)
 dbSNP gnomAD v2 gnomAD v4
8g.54627907T>CCA4751790RP1c.4025T>C (p.Ile1342Thr)
c.787+5619T>C (n.787+5619T>C)
c.4046T>C (p.Ile1349Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54627907T>GCA177181071RP1c.4025T>G (p.Ile1342Ser)
c.787+5619T>G (n.787+5619T>G)
c.4046T>G (p.Ile1349Ser)
 dbSNP gnomAD v3 gnomAD v4
8g.54627907T=CA1785188939RP1c.4025T= (p.Ile1342=)
c.787+5619T= (n.787+5619T=)
c.4046T= (p.Ile1349=)
8g.54627908T>ACA461099787RP1c.4026T>A (p.Ile1342=)
c.787+5620T>A (n.787+5620T>A)
c.4047T>A (p.Ile1349=)
8g.54627908T>CCA461099788RP1c.4026T>C (p.Ile1342=)
c.787+5620T>C (n.787+5620T>C)
c.4047T>C (p.Ile1349=)
8g.54627908T>GCA370981074RP1c.4026T>G (p.Ile1342Met)
c.787+5620T>G (n.787+5620T>G)
c.4047T>G (p.Ile1349Met)
8g.54627909G>ACA370981076RP1c.4027G>A (p.Asp1343Asn)
c.787+5621G>A (n.787+5621G>A)
c.4048G>A (p.Asp1350Asn)
8g.54627909G>CCA370981078RP1c.4027G>C (p.Asp1343His)
c.787+5621G>C (n.787+5621G>C)
c.4048G>C (p.Asp1350His)
8g.54627909G>TCA370981080RP1c.4027G>T (p.Asp1343Tyr)
c.787+5621G>T (n.787+5621G>T)
c.4048G>T (p.Asp1350Tyr)
8g.54627910A>CCA370981083RP1c.4028A>C (p.Asp1343Ala)
c.787+5622A>C (n.787+5622A>C)
c.4049A>C (p.Asp1350Ala)
8g.54627910A>GCA370981085RP1c.4028A>G (p.Asp1343Gly)
c.787+5622A>G (n.787+5622A>G)
c.4049A>G (p.Asp1350Gly)
 gnomAD v4
8g.54627910A>TCA370981086RP1c.4028A>T (p.Asp1343Val)
c.787+5622A>T (n.787+5622A>T)
c.4049A>T (p.Asp1350Val)
8g.54627911C>ACA370981087RP1c.4029C>A (p.Asp1343Glu)
c.787+5623C>A (n.787+5623C>A)
c.4050C>A (p.Asp1350Glu)
8g.54627911C>GCA370981089RP1c.4029C>G (p.Asp1343Glu)
c.787+5623C>G (n.787+5623C>G)
c.4050C>G (p.Asp1350Glu)
8g.54627911C>TCA461099792RP1c.4029C>T (p.Asp1343=)
c.787+5623C>T (n.787+5623C>T)
c.4050C>T (p.Asp1350=)
8g.54627911_54627912delinsCTCA1785188940RP1c.4029_4030delinsCT (p.Asp1343=)
c.787+5623_787+5624delinsCT (n.787+5623_787+5624delinsCT)
c.4050_4051delinsCT (p.Asp1350=)
8g.54627912T>ACA370981095RP1c.4030T>A (p.Phe1344Ile)
c.787+5624T>A (n.787+5624T>A)
c.4051T>A (p.Phe1351Ile)
8g.54627912T>CCA4751791RP1c.4030T>C (p.Phe1344Leu)
c.787+5624T>C (n.787+5624T>C)
c.4051T>C (p.Phe1351Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54627912T>GCA370981093RP1c.4030T>G (p.Phe1344Val)
c.787+5624T>G (n.787+5624T>G)
c.4051T>G (p.Phe1351Val)
8g.54627912T=CA1785188942RP1c.4030T= (p.Phe1344=)
c.787+5624T= (n.787+5624T=)
c.4051T= (p.Phe1351=)
8g.54627916delCA1785188941RP1c.4034del (p.Leu1345Ter)
c.787+5628del (n.787+5628del)
c.4055del (p.Leu1352Ter)
 dbSNP gnomAD v4
8g.54627913T>ACA370981098RP1c.4031T>A (p.Phe1344Tyr)
c.787+5625T>A (n.787+5625T>A)
c.4052T>A (p.Phe1351Tyr)
8g.54627913T>CCA370981101RP1c.4031T>C (p.Phe1344Ser)
c.787+5625T>C (n.787+5625T>C)
c.4052T>C (p.Phe1351Ser)
 gnomAD v4
8g.54627913T>GCA370981103RP1c.4031T>G (p.Phe1344Cys)
c.787+5625T>G (n.787+5625T>G)
c.4052T>G (p.Phe1351Cys)
 dbSNP gnomAD v2 gnomAD v4
8g.54627913T=CA1785188943RP1c.4031T= (p.Phe1344=)
c.787+5625T= (n.787+5625T=)
c.4052T= (p.Phe1351=)
8g.54627913_54627914insACACA2780387040RP1c.4031_4032insACA (p.Phe1344delinsLeuHis)
c.787+5625_787+5626insACA (n.787+5625_787+5626insACA)
c.4052_4053insACA (p.Phe1351delinsLeuHis)
8g.54627914T>ACA370981106RP1c.4032T>A (p.Phe1344Leu)
c.787+5626T>A (n.787+5626T>A)
c.4053T>A (p.Phe1351Leu)
8g.54627914T>CCA461099802RP1c.4032T>C (p.Phe1344=)
c.787+5626T>C (n.787+5626T>C)
c.4053T>C (p.Phe1351=)
 gnomAD v4
8g.54627914T>GCA370981107RP1c.4032T>G (p.Phe1344Leu)
c.787+5626T>G (n.787+5626T>G)
c.4053T>G (p.Phe1351Leu)
8g.54627915T>ACA370981110RP1c.4033T>A (p.Leu1345Ile)
c.787+5627T>A (n.787+5627T>A)
c.4054T>A (p.Leu1352Ile)
 COSMIC
8g.54627915T>CCA461099804RP1c.4033T>C (p.Leu1345=)
c.787+5627T>C (n.787+5627T>C)
c.4054T>C (p.Leu1352=)
8g.54627915T>GCA370981112RP1c.4033T>G (p.Leu1345Val)
c.787+5627T>G (n.787+5627T>G)
c.4054T>G (p.Leu1352Val)
8g.54627915_54627918delCA2780387041RP1c.4033_4036del (p.Leu1345ThrfsTer17)
c.787+5627_787+5630del (n.787+5627_787+5630del)
c.4054_4057del (p.Leu1352ThrfsTer17)
8g.54627916T>ACA370981115RP1c.4034T>A (p.Leu1345Ter)
c.787+5628T>A (n.787+5628T>A)
c.4055T>A (p.Leu1352Ter)
8g.54627916T>CCA370981116RP1c.4034T>C (p.Leu1345Ser)
c.787+5628T>C (n.787+5628T>C)
c.4055T>C (p.Leu1352Ser)
8g.54627916T>GCA370981117RP1c.4034T>G (p.Leu1345Ter)
c.787+5628T>G (n.787+5628T>G)
c.4055T>G (p.Leu1352Ter)
8g.54627917A>CCA370981118RP1c.4035A>C (p.Leu1345Phe)
c.787+5629A>C (n.787+5629A>C)
c.4056A>C (p.Leu1352Phe)
8g.54627917A>GCA461099805RP1c.4035A>G (p.Leu1345=)
c.787+5629A>G (n.787+5629A>G)
c.4056A>G (p.Leu1352=)
8g.54627917A>TCA370981119RP1c.4035A>T (p.Leu1345Phe)
c.787+5629A>T (n.787+5629A>T)
c.4056A>T (p.Leu1352Phe)
8g.54627918A=CA1785188944RP1c.4036A= (p.Asn1346=)
c.787+5630A= (n.787+5630A=)
c.4057A= (p.Asn1353=)
8g.54627918A>CCA370981121RP1c.4036A>C (p.Asn1346His)
c.787+5630A>C (n.787+5630A>C)
c.4057A>C (p.Asn1353His)
8g.54627918A>GCA4751792RP1c.4036A>G (p.Asn1346Asp)
c.787+5630A>G (n.787+5630A>G)
c.4057A>G (p.Asn1353Asp)
 dbSNP ExAC gnomAD v2
8g.54627918A>TCA370981120RP1c.4036A>T (p.Asn1346Tyr)
c.787+5630A>T (n.787+5630A>T)
c.4057A>T (p.Asn1353Tyr)
8g.54627919A>CCA370981122RP1c.4037A>C (p.Asn1346Thr)
c.787+5631A>C (n.787+5631A>C)
c.4058A>C (p.Asn1353Thr)
8g.54627919A>GCA370981123RP1c.4037A>G (p.Asn1346Ser)
c.787+5631A>G (n.787+5631A>G)
c.4058A>G (p.Asn1353Ser)
8g.54627919A>TCA370981124RP1c.4037A>T (p.Asn1346Ile)
c.787+5631A>T (n.787+5631A>T)
c.4058A>T (p.Asn1353Ile)
8g.54627920C>ACA370981125RP1c.4038C>A (p.Asn1346Lys)
c.787+5632C>A (n.787+5632C>A)
c.4059C>A (p.Asn1353Lys)
8g.54627920C>GCA370981126RP1c.4038C>G (p.Asn1346Lys)
c.787+5632C>G (n.787+5632C>G)
c.4059C>G (p.Asn1353Lys)
8g.54627920C>TCA461099809RP1c.4038C>T (p.Asn1346=)
c.787+5632C>T (n.787+5632C>T)
c.4059C>T (p.Asn1353=)
8g.54627921T>ACA370981128RP1c.4039T>A (p.Ser1347Thr)
c.787+5633T>A (n.787+5633T>A)
c.4060T>A (p.Ser1354Thr)
8g.54627921T>CCA177181107RP1c.4039T>C (p.Ser1347Pro)
c.787+5633T>C (n.787+5633T>C)
c.4060T>C (p.Ser1354Pro)
 dbSNP
8g.54627921T>GCA370981127RP1c.4039T>G (p.Ser1347Ala)
c.787+5633T>G (n.787+5633T>G)
c.4060T>G (p.Ser1354Ala)
8g.54627921T=CA1785188945RP1c.4039T= (p.Ser1347=)
c.787+5633T= (n.787+5633T=)
c.4060T= (p.Ser1354=)
8g.54627922C>ACA370981129RP1c.4040C>A (p.Ser1347Tyr)
c.787+5634C>A (n.787+5634C>A)
c.4061C>A (p.Ser1354Tyr)
8g.54627922C=CA1785188946RP1c.4040C= (p.Ser1347=)
c.787+5634C= (n.787+5634C=)
c.4061C= (p.Ser1354=)
8g.54627922C>GCA370981130RP1c.4040C>G (p.Ser1347Cys)
c.787+5634C>G (n.787+5634C>G)
c.4061C>G (p.Ser1354Cys)
8g.54627922C>TCA177181130RP1c.4040C>T (p.Ser1347Phe)
c.787+5634C>T (n.787+5634C>T)
c.4061C>T (p.Ser1354Phe)
 dbSNP COSMIC
8g.54627922_54627923insACA2780387042RP1c.4040_4041insA (p.Lys1348GlnfsTer7)
c.787+5634_787+5635insA (n.787+5634_787+5635insA)
c.4061_4062insA (p.Lys1355GlnfsTer7)
8g.54627923C>ACA461099811RP1c.4041C>A (p.Ser1347=)
c.787+5635C>A (n.787+5635C>A)
c.4062C>A (p.Ser1354=)
8g.54627923C>GCA461099812RP1c.4041C>G (p.Ser1347=)
c.787+5635C>G (n.787+5635C>G)
c.4062C>G (p.Ser1354=)
8g.54627923C>TCA461099814RP1c.4041C>T (p.Ser1347=)
c.787+5635C>T (n.787+5635C>T)
c.4062C>T (p.Ser1354=)
 dbSNP COSMIC
8g.54627924A>CCA370981131RP1c.4042A>C (p.Lys1348Gln)
c.787+5636A>C (n.787+5636A>C)
c.4063A>C (p.Lys1355Gln)
8g.54627924A>GCA370981132RP1c.4042A>G (p.Lys1348Glu)
c.787+5636A>G (n.787+5636A>G)
c.4063A>G (p.Lys1355Glu)
 gnomAD v4
8g.54627924A>TCA370981133RP1c.4042A>T (p.Lys1348Ter)
c.787+5636A>T (n.787+5636A>T)
c.4063A>T (p.Lys1355Ter)
8g.54627925A=CA1785188947RP1c.4043A= (p.Lys1348=)
c.787+5637A= (n.787+5637A=)
c.4064A= (p.Lys1355=)
8g.54627925A>CCA370981136RP1c.4043A>C (p.Lys1348Thr)
c.787+5637A>C (n.787+5637A>C)
c.4064A>C (p.Lys1355Thr)
8g.54627925A>GCA370981135RP1c.4043A>G (p.Lys1348Arg)
c.787+5637A>G (n.787+5637A>G)
c.4064A>G (p.Lys1355Arg)
 dbSNP gnomAD v3 gnomAD v4
8g.54627925A>TCA370981134RP1c.4043A>T (p.Lys1348Ile)
c.787+5637A>T (n.787+5637A>T)
c.4064A>T (p.Lys1355Ile)
8g.54627926A>CCA370981137RP1c.4044A>C (p.Lys1348Asn)
c.787+5638A>C (n.787+5638A>C)
c.4065A>C (p.Lys1355Asn)
 COSMIC
8g.54627926A>GCA461099818RP1c.4044A>G (p.Lys1348=)
c.787+5638A>G (n.787+5638A>G)
c.4065A>G (p.Lys1355=)
 gnomAD v4
8g.54627926A>TCA370981138RP1c.4044A>T (p.Lys1348Asn)
c.787+5638A>T (n.787+5638A>T)
c.4065A>T (p.Lys1355Asn)
8g.54627927G>ACA370981139RP1c.4045G>A (p.Glu1349Lys)
c.787+5639G>A (n.787+5639G>A)
c.4066G>A (p.Glu1356Lys)
 COSMIC
8g.54627927G>CCA370981141RP1c.4045G>C (p.Glu1349Gln)
c.787+5639G>C (n.787+5639G>C)
c.4066G>C (p.Glu1356Gln)
 gnomAD v4
8g.54627927G>TCA370981140RP1c.4045G>T (p.Glu1349Ter)
c.787+5639G>T (n.787+5639G>T)
c.4066G>T (p.Glu1356Ter)
 COSMIC
8g.54627928A>CCA370981142RP1c.4046A>C (p.Glu1349Ala)
c.787+5640A>C (n.787+5640A>C)
c.4067A>C (p.Glu1356Ala)
8g.54627928A>GCA370981143RP1c.4046A>G (p.Glu1349Gly)
c.787+5640A>G (n.787+5640A>G)
c.4067A>G (p.Glu1356Gly)
 COSMIC
8g.54627928A>TCA370981144RP1c.4046A>T (p.Glu1349Val)
c.787+5640A>T (n.787+5640A>T)
c.4067A>T (p.Glu1356Val)
8g.54627928_54627929insCCA2780387043RP1c.4046_4047insC (p.Glu1349AspfsTer6)
c.787+5640_787+5641insC (n.787+5640_787+5641insC)
c.4067_4068insC (p.Glu1356AspfsTer6)
8g.54627929A>CCA370981145RP1c.4047A>C (p.Glu1349Asp)
c.787+5641A>C (n.787+5641A>C)
c.4068A>C (p.Glu1356Asp)
8g.54627929A>GCA461099822RP1c.4047A>G (p.Glu1349=)
c.787+5641A>G (n.787+5641A>G)
c.4068A>G (p.Glu1356=)
8g.54627929A>TCA370981146RP1c.4047A>T (p.Glu1349Asp)
c.787+5641A>T (n.787+5641A>T)
c.4068A>T (p.Glu1356Asp)
8g.54627929_54627930insCCCCA2780387045RP1c.4047_4048insCCC (p.Glu1349_Asn1350insPro)
c.787+5641_787+5642insCCC (n.787+5641_787+5642insCCC)
c.4068_4069insCCC (p.Glu1356_Asn1357insPro)
8g.54627929_54627930insCACACCCCA2780387044RP1c.4047_4048insCACACCC (p.Asn1350HisfsTer7)
c.787+5641_787+5642insCACACCC (n.787+5641_787+5642insCACACCC)
c.4068_4069insCACACCC (p.Asn1357HisfsTer7)
8g.54627930A>CCA370981147RP1c.4048A>C (p.Asn1350His)
c.787+5642A>C (n.787+5642A>C)
c.4069A>C (p.Asn1357His)
8g.54627930A>GCA370981148RP1c.4048A>G (p.Asn1350Asp)
c.787+5642A>G (n.787+5642A>G)
c.4069A>G (p.Asn1357Asp)
8g.54627930A>TCA370981149RP1c.4048A>T (p.Asn1350Tyr)
c.787+5642A>T (n.787+5642A>T)
c.4069A>T (p.Asn1357Tyr)
8g.54627931_54627932insACCCAAACACACCCAACA2780387046RP1c.4049_4050insACCCAAACACACCCAA (p.Asn1350LysfsTer10)
c.787+5643_787+5644insACCCAAACACACCCAA (n.787+5643_787+5644insACCCAAACACACCCAA)
c.4070_4071insACCCAAACACACCCAA (p.Asn1357LysfsTer10)
8g.54627931A=CA1785188948RP1c.4049A= (p.Asn1350=)
c.787+5643A= (n.787+5643A=)
c.4070A= (p.Asn1357=)
8g.54627931A>CCA370981150RP1c.4049A>C (p.Asn1350Thr)
c.787+5643A>C (n.787+5643A>C)
c.4070A>C (p.Asn1357Thr)
8g.54627931A>GCA370981151RP1c.4049A>G (p.Asn1350Ser)
c.787+5643A>G (n.787+5643A>G)
c.4070A>G (p.Asn1357Ser)
 gnomAD v4
8g.54627931A>TCA370981152RP1c.4049A>T (p.Asn1350Ile)
c.787+5643A>T (n.787+5643A>T)
c.4070A>T (p.Asn1357Ile)
 dbSNP
8g.54627932C>ACA370981153RP1c.4050C>A (p.Asn1350Lys)
c.787+5644C>A (n.787+5644C>A)
c.4071C>A (p.Asn1357Lys)
 dbSNP
8g.54627932C=CA1785188949RP1c.4050C= (p.Asn1350=)
c.787+5644C= (n.787+5644C=)
c.4071C= (p.Asn1357=)
8g.54627932C>GCA370981154RP1c.4050C>G (p.Asn1350Lys)
c.787+5644C>G (n.787+5644C>G)
c.4071C>G (p.Asn1357Lys)
 gnomAD v4
8g.54627932C>TCA461099828RP1c.4050C>T (p.Asn1350=)
c.787+5644C>T (n.787+5644C>T)
c.4071C>T (p.Asn1357=)
8g.54627933A=CA1785188950RP1c.4051A= (p.Thr1351=)
c.787+5645A= (n.787+5645A=)
c.4072A= (p.Thr1358=)
8g.54627933A>CCA370981156RP1c.4051A>C (p.Thr1351Pro)
c.787+5645A>C (n.787+5645A>C)
c.4072A>C (p.Thr1358Pro)
 gnomAD v4
8g.54627933A>GCA177181136RP1c.4051A>G (p.Thr1351Ala)
c.787+5645A>G (n.787+5645A>G)
c.4072A>G (p.Thr1358Ala)
 dbSNP gnomAD v4
8g.54627933A>TCA370981155RP1c.4051A>T (p.Thr1351Ser)
c.787+5645A>T (n.787+5645A>T)
c.4072A>T (p.Thr1358Ser)
8g.54627934C>ACA177181145RP1c.4052C>A (p.Thr1351Lys)
c.787+5646C>A (n.787+5646C>A)
c.4073C>A (p.Thr1358Lys)
 dbSNP gnomAD v4
8g.54627934C=CA1785188951RP1c.4052C= (p.Thr1351=)
c.787+5646C= (n.787+5646C=)
c.4073C= (p.Thr1358=)
8g.54627934C>GCA370981157RP1c.4052C>G (p.Thr1351Arg)
c.787+5646C>G (n.787+5646C>G)
c.4073C>G (p.Thr1358Arg)
8g.54627934C>TCA370981158RP1c.4052C>T (p.Thr1351Ile)
c.787+5646C>T (n.787+5646C>T)
c.4073C>T (p.Thr1358Ile)
8g.54627934_54627935insGGCCGGGCGCGGTGGCTCACGCCTGTCA2717039258RP1c.4052_4053insGGCCGGGCGCGGTGGCTCACGCCTGT (p.Tyr1352AlafsTer20)
c.787+5646_787+5647insGGCCGGGCGCGGTGGCTCACGCCTGT (n.787+5646_787+5647insGGCCGGGCGCGGTGGCTCACGCCTGT)
c.4073_4074insGGCCGGGCGCGGTGGCTCACGCCTGT (p.Tyr1359AlafsTer20)
 dbSNP
8g.54627934_54627935insGGCCGGGCGCGGTGGCTCACGCCTGTACA2717039257RP1c.4052_4053insGGCCGGGCGCGGTGGCTCACGCCTGTA (p.Thr1352AlafsTer9)
c.787+5646_787+5647insGGCCGGGCGCGGTGGCTCACGCCTGTA (n.787+5646_787+5647insGGCCGGGCGCGGTGGCTCACGCCTGTA)
c.4073_4074insGGCCGGGCGCGGTGGCTCACGCCTGTA (p.Thr1359AlafsTer9)
 dbSNP
8g.54627934_54627935insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGCA2687301976RP1c.4052_4053insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG (p.Tyr1352AlafsTer9)
c.787+5646_787+5647insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG (n.787+5646_787+5647insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG)
c.4073_4074insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG (p.Tyr1359AlafsTer9)
 dbSNP gnomAD v4
8g.54627934_54627935insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGCA4751793RP1c.4052_4053insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG (p.Tyr1352AlafsTer9)
c.787+5646_787+5647insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG (n.787+5646_787+5647insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG)
c.4073_4074insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG (p.Tyr1359AlafsTer9)
 dbSNP ExAC
8g.54627934_54627935insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGCA2687301977RP1c.4052_4053insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGG (p.Tyr1352AlafsTer9)
c.787+5646_787+5647insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGG (n.787+5646_787+5647insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGG)
c.4073_4074insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGG (p.Tyr1359AlafsTer9)
 gnomAD v4
8g.54627935A>CCA461099833RP1c.4053A>C (p.Thr1351=)
c.787+5647A>C (n.787+5647A>C)
c.4074A>C (p.Thr1358=)
 gnomAD v4
8g.54627935A>GCA461099832RP1c.4053A>G (p.Thr1351=)
c.787+5647A>G (n.787+5647A>G)
c.4074A>G (p.Thr1358=)
8g.54627935A>TCA461099831RP1c.4053A>T (p.Thr1351=)
c.787+5647A>T (n.787+5647A>T)
c.4074A>T (p.Thr1358=)
8g.54627938_54627939delCA2717227662RP1c.4056_4057del (p.Thr1353Ter)
c.787+5650_787+5651del (n.787+5650_787+5651del)
c.4077_4078del (p.Thr1360Ter)
 dbSNP
8g.54627936T>ACA370981159RP1c.4054T>A (p.Tyr1352Asn)
c.787+5648T>A (n.787+5648T>A)
c.4075T>A (p.Tyr1359Asn)
8g.54627936T>CCA370981160RP1c.4054T>C (p.Tyr1352His)
c.787+5648T>C (n.787+5648T>C)
c.4075T>C (p.Tyr1359His)
8g.54627936T>GCA370981161RP1c.4054T>G (p.Tyr1352Asp)
c.787+5648T>G (n.787+5648T>G)
c.4075T>G (p.Tyr1359Asp)
8g.54627937A=CA1785188952RP1c.4055A= (p.Tyr1352=)
c.787+5649A= (n.787+5649A=)
c.4076A= (p.Tyr1359=)
8g.54627937A>CCA370981162RP1c.4055A>C (p.Tyr1352Ser)
c.787+5649A>C (n.787+5649A>C)
c.4076A>C (p.Tyr1359Ser)
8g.54627937A>GCA370981163RP1c.4055A>G (p.Tyr1352Cys)
c.787+5649A>G (n.787+5649A>G)
c.4076A>G (p.Tyr1359Cys)
 gnomAD v4
8g.54627937A>TCA370981164RP1c.4055A>T (p.Tyr1352Phe)
c.787+5649A>T (n.787+5649A>T)
c.4076A>T (p.Tyr1359Phe)
 dbSNP gnomAD v2 gnomAD v4
8g.54627938T>ACA370981165RP1c.4056T>A (p.Tyr1352Ter)
c.787+5650T>A (n.787+5650T>A)
c.4077T>A (p.Tyr1359Ter)
8g.54627938T>CCA461099836RP1c.4056T>C (p.Tyr1352=)
c.787+5650T>C (n.787+5650T>C)
c.4077T>C (p.Tyr1359=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54627938T>GCA370981166RP1c.4056T>G (p.Tyr1352Ter)
c.787+5650T>G (n.787+5650T>G)
c.4077T>G (p.Tyr1359Ter)
8g.54627938T=CA1785188953RP1c.4056T= (p.Tyr1352=)
c.787+5650T= (n.787+5650T=)
c.4077T= (p.Tyr1359=)
8g.54627939A>CCA370981167RP1c.4057A>C (p.Thr1353Pro)
c.787+5651A>C (n.787+5651A>C)
c.4078A>C (p.Thr1360Pro)
8g.54627939A>GCA370981169RP1c.4057A>G (p.Thr1353Ala)
c.787+5651A>G (n.787+5651A>G)
c.4078A>G (p.Thr1360Ala)
8g.54627939A>TCA370981168RP1c.4057A>T (p.Thr1353Ser)
c.787+5651A>T (n.787+5651A>T)
c.4078A>T (p.Thr1360Ser)
8g.54627940C>ACA370981170RP1c.4058C>A (p.Thr1353Asn)
c.787+5652C>A (n.787+5652C>A)
c.4079C>A (p.Thr1360Asn)
 gnomAD v4
8g.54627940C=CA1785188954RP1c.4058C= (p.Thr1353=)
c.787+5652C= (n.787+5652C=)
c.4079C= (p.Thr1360=)
8g.54627940C>GCA370981171RP1c.4058C>G (p.Thr1353Ser)
c.787+5652C>G (n.787+5652C>G)
c.4079C>G (p.Thr1360Ser)
8g.54627940C>TCA370981172RP1c.4058C>T (p.Thr1353Ile)
c.787+5652C>T (n.787+5652C>T)
c.4079C>T (p.Thr1360Ile)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.54627941T>ACA461099839RP1c.4059T>A (p.Thr1353=)
c.787+5653T>A (n.787+5653T>A)
c.4080T>A (p.Thr1360=)
8g.54627941T>CCA461099840RP1c.4059T>C (p.Thr1353=)
c.787+5653T>C (n.787+5653T>C)
c.4080T>C (p.Thr1360=)
 gnomAD v4
8g.54627941T>GCA461099841RP1c.4059T>G (p.Thr1353=)
c.787+5653T>G (n.787+5653T>G)
c.4080T>G (p.Thr1360=)
8g.54627942G>ACA370981173RP1c.4060G>A (p.Asp1354Asn)
c.787+5654G>A (n.787+5654G>A)
c.4081G>A (p.Asp1361Asn)
 COSMIC
8g.54627942G>CCA370981174RP1c.4060G>C (p.Asp1354His)
c.787+5654G>C (n.787+5654G>C)
c.4081G>C (p.Asp1361His)
8g.54627942G>TCA370981175RP1c.4060G>T (p.Asp1354Tyr)
c.787+5654G>T (n.787+5654G>T)
c.4081G>T (p.Asp1361Tyr)
8g.54627943A>CCA370981176RP1c.4061A>C (p.Asp1354Ala)
c.787+5655A>C (n.787+5655A>C)
c.4082A>C (p.Asp1361Ala)
8g.54627943A>GCA370981177RP1c.4061A>G (p.Asp1354Gly)
c.787+5655A>G (n.787+5655A>G)
c.4082A>G (p.Asp1361Gly)
8g.54627943A>TCA370981178RP1c.4061A>T (p.Asp1354Val)
c.787+5655A>T (n.787+5655A>T)
c.4082A>T (p.Asp1361Val)
8g.54627944T>ACA370981179RP1c.4062T>A (p.Asp1354Glu)
c.787+5656T>A (n.787+5656T>A)
c.4083T>A (p.Asp1361Glu)
 gnomAD v4
8g.54627944T>CCA4751794RP1c.4062T>C (p.Asp1354=)
c.787+5656T>C (n.787+5656T>C)
c.4083T>C (p.Asp1361=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54627944T>GCA370981180RP1c.4062T>G (p.Asp1354Glu)
c.787+5656T>G (n.787+5656T>G)
c.4083T>G (p.Asp1361Glu)
8g.54627944T=CA1785188955RP1c.4062T= (p.Asp1354=)
c.787+5656T= (n.787+5656T=)
c.4083T= (p.Asp1361=)
8g.54627945A=CA1785188956RP1c.4063A= (p.Asn1355=)
c.787+5657A= (n.787+5657A=)
c.4084A= (p.Asn1362=)
8g.54627945A>CCA370981181RP1c.4063A>C (p.Asn1355His)
c.787+5657A>C (n.787+5657A>C)
c.4084A>C (p.Asn1362His)
8g.54627945A>GCA370981183RP1c.4063A>G (p.Asn1355Asp)
c.787+5657A>G (n.787+5657A>G)
c.4084A>G (p.Asn1362Asp)
 dbSNP gnomAD v2 gnomAD v4
8g.54627945A>TCA370981182RP1c.4063A>T (p.Asn1355Tyr)
c.787+5657A>T (n.787+5657A>T)
c.4084A>T (p.Asn1362Tyr)
8g.54627945_54627946delCA2780387047RP1c.4063_4064del (p.Asn1355LeufsTer5)
c.787+5657_787+5658del (n.787+5657_787+5658del)
c.4084_4085del (p.Asn1362LeufsTer5)
8g.54627946A>CCA370981184RP1c.4064A>C (p.Asn1355Thr)
c.787+5658A>C (n.787+5658A>C)
c.4085A>C (p.Asn1362Thr)
8g.54627946A>GCA370981185RP1c.4064A>G (p.Asn1355Ser)
c.787+5658A>G (n.787+5658A>G)
c.4085A>G (p.Asn1362Ser)
8g.54627946A>TCA370981186RP1c.4064A>T (p.Asn1355Ile)
c.787+5658A>T (n.787+5658A>T)
c.4085A>T (p.Asn1362Ile)
8g.54627947C>ACA370981187RP1c.4065C>A (p.Asn1355Lys)
c.787+5659C>A (n.787+5659C>A)
c.4086C>A (p.Asn1362Lys)
8g.54627947C=CA1785188957RP1c.4065C= (p.Asn1355=)
c.787+5659C= (n.787+5659C=)
c.4086C= (p.Asn1362=)
8g.54627947C>GCA370981188RP1c.4065C>G (p.Asn1355Lys)
c.787+5659C>G (n.787+5659C>G)
c.4086C>G (p.Asn1362Lys)
 dbSNP gnomAD v3 gnomAD v4
8g.54627947C>TCA461099850RP1c.4065C>T (p.Asn1355=)
c.787+5659C>T (n.787+5659C>T)
c.4086C>T (p.Asn1362=)
 dbSNP gnomAD v2 gnomAD v4
8g.54627948T>ACA370981189RP1c.4066T>A (p.Leu1356Met)
c.787+5660T>A (n.787+5660T>A)
c.4087T>A (p.Leu1363Met)
 gnomAD v4
8g.54627948T>CCA461099851RP1c.4066T>C (p.Leu1356=)
c.787+5660T>C (n.787+5660T>C)
c.4087T>C (p.Leu1363=)
8g.54627948T>GCA370981190RP1c.4066T>G (p.Leu1356Val)
c.787+5660T>G (n.787+5660T>G)
c.4087T>G (p.Leu1363Val)
 COSMIC
8g.54627949delCA2517529811RP1c.4067del (p.Leu1356TrpfsTer7)
c.787+5661del (n.787+5661del)
c.4088del (p.Leu1363TrpfsTer7)
8g.54627949T>ACA370981191RP1c.4067T>A (p.Leu1356Ter)
c.787+5661T>A (n.787+5661T>A)
c.4088T>A (p.Leu1363Ter)
8g.54627949T>CCA370981192RP1c.4067T>C (p.Leu1356Ser)
c.787+5661T>C (n.787+5661T>C)
c.4088T>C (p.Leu1363Ser)
8g.54627949T>GCA370981193RP1c.4067T>G (p.Leu1356Trp)
c.787+5661T>G (n.787+5661T>G)
c.4088T>G (p.Leu1363Trp)
8g.54627949_54627990delCA2780387048RP1c.4067_4108del (p.Leu1356Ter)
c.787+5661_787+5702del (n.787+5661_787+5702del)
c.4088_4129del (p.Leu1363Ter)
8g.54627950G>ACA461099853RP1c.4068G>A (p.Leu1356=)
c.787+5662G>A (n.787+5662G>A)
c.4089G>A (p.Leu1363=)
8g.54627950G>CCA370981195RP1c.4068G>C (p.Leu1356Phe)
c.787+5662G>C (n.787+5662G>C)
c.4089G>C (p.Leu1363Phe)
8g.54627950G>TCA370981194RP1c.4068G>T (p.Leu1356Phe)
c.787+5662G>T (n.787+5662G>T)
c.4089G>T (p.Leu1363Phe)
8g.54627951G>ACA370981196RP1c.4069G>A (p.Asp1357Asn)
c.787+5663G>A (n.787+5663G>A)
c.4090G>A (p.Asp1364Asn)
 COSMIC
8g.54627951G>CCA370981198RP1c.4069G>C (p.Asp1357His)
c.787+5663G>C (n.787+5663G>C)
c.4090G>C (p.Asp1364His)
8g.54627951G=CA1785188958RP1c.4069G= (p.Asp1357=)
c.787+5663G= (n.787+5663G=)
c.4090G= (p.Asp1364=)
8g.54627951G>TCA370981197RP1c.4069G>T (p.Asp1357Tyr)
c.787+5663G>T (n.787+5663G>T)
c.4090G>T (p.Asp1364Tyr)
 dbSNP gnomAD v2 gnomAD v4
8g.54627951_54627953delCA2503108626RP1c.4069_4071del (p.Asp1357del)
c.787+5663_787+5665del (n.787+5663_787+5665del)
c.4090_4092del (p.Asp1364del)
8g.54627952A>CCA370981199RP1c.4070A>C (p.Asp1357Ala)
c.787+5664A>C (n.787+5664A>C)
c.4091A>C (p.Asp1364Ala)
8g.54627952A>GCA370981200RP1c.4070A>G (p.Asp1357Gly)
c.787+5664A>G (n.787+5664A>G)
c.4091A>G (p.Asp1364Gly)
 gnomAD v4
8g.54627952A>TCA370981201RP1c.4070A>T (p.Asp1357Val)
c.787+5664A>T (n.787+5664A>T)
c.4091A>T (p.Asp1364Val)
8g.54627953T>ACA370981202RP1c.4071T>A (p.Asp1357Glu)
c.787+5665T>A (n.787+5665T>A)
c.4092T>A (p.Asp1364Glu)
8g.54627953T>CCA461099857RP1c.4071T>C (p.Asp1357=)
c.787+5665T>C (n.787+5665T>C)
c.4092T>C (p.Asp1364=)
8g.54627953T>GCA370981203RP1c.4071T>G (p.Asp1357Glu)
c.787+5665T>G (n.787+5665T>G)
c.4092T>G (p.Asp1364Glu)
 COSMIC
8g.54627953_54627954insACCA2780387049RP1c.4071_4072insAC (p.Ser1358ThrfsTer6)
c.787+5665_787+5666insAC (n.787+5665_787+5666insAC)
c.4092_4093insAC (p.Ser1365ThrfsTer6)
8g.54627954T>ACA370981204RP1c.4072T>A (p.Ser1358Thr)
c.787+5666T>A (n.787+5666T>A)
c.4093T>A (p.Ser1365Thr)
8g.54627954T>CCA370981205RP1c.4072T>C (p.Ser1358Pro)
c.787+5666T>C (n.787+5666T>C)
c.4093T>C (p.Ser1365Pro)
8g.54627954T>GCA177181147RP1c.4072T>G (p.Ser1358Ala)
c.787+5666T>G (n.787+5666T>G)
c.4093T>G (p.Ser1365Ala)
 dbSNP
8g.54627954T=CA1785188959RP1c.4072T= (p.Ser1358=)
c.787+5666T= (n.787+5666T=)
c.4093T= (p.Ser1365=)
8g.54627955C>ACA370981206RP1c.4073C>A (p.Ser1358Ter)
c.787+5667C>A (n.787+5667C>A)
c.4094C>A (p.Ser1365Ter)
8g.54627955C=CA1785188960RP1c.4073C= (p.Ser1358=)
c.787+5667C= (n.787+5667C=)
c.4094C= (p.Ser1365=)
8g.54627955C>GCA370981207RP1c.4073C>G (p.Ser1358Ter)
c.787+5667C>G (n.787+5667C>G)
c.4094C>G (p.Ser1365Ter)
8g.54627955C>TCA370981208RP1c.4073C>T (p.Ser1358Leu)
c.787+5667C>T (n.787+5667C>T)
c.4094C>T (p.Ser1365Leu)
 dbSNP
8g.54627956A>CCA461099861RP1c.4074A>C (p.Ser1358=)
c.787+5668A>C (n.787+5668A>C)
c.4095A>C (p.Ser1365=)
8g.54627956A>GCA461099863RP1c.4074A>G (p.Ser1358=)
c.787+5668A>G (n.787+5668A>G)
c.4095A>G (p.Ser1365=)
8g.54627956A>TCA461099860RP1c.4074A>T (p.Ser1358=)
c.787+5668A>T (n.787+5668A>T)
c.4095A>T (p.Ser1365=)
8g.54627957A=CA1785188961RP1c.4075A= (p.Thr1359=)
c.787+5669A= (n.787+5669A=)
c.4096A= (p.Thr1366=)
8g.54627957A>CCA370981210RP1c.4075A>C (p.Thr1359Pro)
c.787+5669A>C (n.787+5669A>C)
c.4096A>C (p.Thr1366Pro)
8g.54627957A>GCA177181154RP1c.4075A>G (p.Thr1359Ala)
c.787+5669A>G (n.787+5669A>G)
c.4096A>G (p.Thr1366Ala)
 dbSNP gnomAD v4
8g.54627957A>TCA370981209RP1c.4075A>T (p.Thr1359Ser)
c.787+5669A>T (n.787+5669A>T)
c.4096A>T (p.Thr1366Ser)
8g.54627957_54627958delCA2553415312RP1c.4075_4076del (p.Thr1359Ter)
c.787+5669_787+5670del (n.787+5669_787+5670del)
c.4096_4097del (p.Thr1366Ter)
8g.54627958C>ACA370981211RP1c.4076C>A (p.Thr1359Asn)
c.787+5670C>A (n.787+5670C>A)
c.4097C>A (p.Thr1366Asn)
8g.54627958C=CA1785188962RP1c.4076C= (p.Thr1359=)
c.787+5670C= (n.787+5670C=)
c.4097C= (p.Thr1366=)
8g.54627958C>GCA370981212RP1c.4076C>G (p.Thr1359Ser)
c.787+5670C>G (n.787+5670C>G)
c.4097C>G (p.Thr1366Ser)
 COSMIC
8g.54627958C>TCA370981213RP1c.4076C>T (p.Thr1359Ile)
c.787+5670C>T (n.787+5670C>T)
c.4097C>T (p.Thr1366Ile)
 dbSNP gnomAD v3 gnomAD v4
8g.54627959T>ACA461099864RP1c.4077T>A (p.Thr1359=)
c.787+5671T>A (n.787+5671T>A)
c.4098T>A (p.Thr1366=)
 dbSNP gnomAD v3 gnomAD v4
8g.54627959T>CCA461099865RP1c.4077T>C (p.Thr1359=)
c.787+5671T>C (n.787+5671T>C)
c.4098T>C (p.Thr1366=)
8g.54627959T>GCA4751795RP1c.4077T>G (p.Thr1359=)
c.787+5671T>G (n.787+5671T>G)
c.4098T>G (p.Thr1366=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.54627959T=CA1785188963RP1c.4077T= (p.Thr1359=)
c.787+5671T= (n.787+5671T=)
c.4098T= (p.Thr1366=)
8g.54627960G>ACA370981214RP1c.4078G>A (p.Glu1360Lys)
c.787+5672G>A (n.787+5672G>A)
c.4099G>A (p.Glu1367Lys)
 COSMIC
8g.54627960G>CCA370981215RP1c.4078G>C (p.Glu1360Gln)
c.787+5672G>C (n.787+5672G>C)
c.4099G>C (p.Glu1367Gln)
8g.54627960G>TCA370981216RP1c.4078G>T (p.Glu1360Ter)
c.787+5672G>T (n.787+5672G>T)
c.4099G>T (p.Glu1367Ter)
8g.54627960_54627963delCA2521825138RP1c.4078_4081del (p.Glu1360SerfsTer2)
c.787+5672_787+5675del (n.787+5672_787+5675del)
c.4099_4102del (p.Glu1367SerfsTer2)
8g.54627961A=CA1785188964RP1c.4079A= (p.Glu1360=)
c.787+5673A= (n.787+5673A=)
c.4100A= (p.Glu1367=)
8g.54627961A>CCA4751796RP1c.4079A>C (p.Glu1360Ala)
c.787+5673A>C (n.787+5673A>C)
c.4100A>C (p.Glu1367Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54627961A>GCA370981217RP1c.4079A>G (p.Glu1360Gly)
c.787+5673A>G (n.787+5673A>G)
c.4100A>G (p.Glu1367Gly)
8g.54627961A>TCA370981218RP1c.4079A>T (p.Glu1360Val)
c.787+5673A>T (n.787+5673A>T)
c.4100A>T (p.Glu1367Val)
8g.54627962A>CCA370981219RP1c.4080A>C (p.Glu1360Asp)
c.787+5674A>C (n.787+5674A>C)
c.4101A>C (p.Glu1367Asp)
8g.54627962A>GCA461099867RP1c.4080A>G (p.Glu1360=)
c.787+5674A>G (n.787+5674A>G)
c.4101A>G (p.Glu1367=)
8g.54627962A>TCA370981220RP1c.4080A>T (p.Glu1360Asp)
c.787+5674A>T (n.787+5674A>T)
c.4101A>T (p.Glu1367Asp)
8g.54627963G>ACA370981223RP1c.4081G>A (p.Glu1361Lys)
c.787+5675G>A (n.787+5675G>A)
c.4102G>A (p.Glu1368Lys)
 ClinVar dbSNP
8g.54627963G>CCA370981222RP1c.4081G>C (p.Glu1361Gln)
c.787+5675G>C (n.787+5675G>C)
c.4102G>C (p.Glu1368Gln)
8g.54627963G=CA1785188965RP1c.4081G= (p.Glu1361=)
c.787+5675G= (n.787+5675G=)
c.4102G= (p.Glu1368=)
8g.54627963G>TCA370981221RP1c.4081G>T (p.Glu1361Ter)
c.787+5675G>T (n.787+5675G>T)
c.4102G>T (p.Glu1368Ter)
8g.54627964A>CCA370981224RP1c.4082A>C (p.Glu1361Ala)
c.787+5676A>C (n.787+5676A>C)
c.4103A>C (p.Glu1368Ala)
 gnomAD v4
8g.54627964A>GCA370981225RP1c.4082A>G (p.Glu1361Gly)
c.787+5676A>G (n.787+5676A>G)
c.4103A>G (p.Glu1368Gly)
8g.54627964A>TCA370981226RP1c.4082A>T (p.Glu1361Val)
c.787+5676A>T (n.787+5676A>T)
c.4103A>T (p.Glu1368Val)
8g.54627964_54627965insACCA2780387050RP1c.4082_4083insAC (p.Leu1362ArgfsTer2)
c.787+5676_787+5677insAC (n.787+5676_787+5677insAC)
c.4103_4104insAC (p.Leu1369ArgfsTer2)
8g.54627965G>ACA4751797RP1c.4083G>A (p.Glu1361=)
c.787+5677G>A (n.787+5677G>A)
c.4104G>A (p.Glu1368=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54627965G>CCA370981227RP1c.4083G>C (p.Glu1361Asp)
c.787+5677G>C (n.787+5677G>C)
c.4104G>C (p.Glu1368Asp)
 dbSNP gnomAD v3 gnomAD v4
8g.54627965G=CA1785188966RP1c.4083G= (p.Glu1361=)
c.787+5677G= (n.787+5677G=)
c.4104G= (p.Glu1368=)
8g.54627965G>TCA370981228RP1c.4083G>T (p.Glu1361Asp)
c.787+5677G>T (n.787+5677G>T)
c.4104G>T (p.Glu1368Asp)
 gnomAD v4
8g.54627966T>ACA370981229RP1c.4084T>A (p.Leu1362Ile)
c.787+5678T>A (n.787+5678T>A)
c.4105T>A (p.Leu1369Ile)
8g.54627966T>CCA461099873RP1c.4084T>C (p.Leu1362=)
c.787+5678T>C (n.787+5678T>C)
c.4105T>C (p.Leu1369=)
8g.54627966T>GCA370981230RP1c.4084T>G (p.Leu1362Val)
c.787+5678T>G (n.787+5678T>G)
c.4105T>G (p.Leu1369Val)
8g.54627967T>ACA370981231RP1c.4085T>A (p.Leu1362Ter)
c.787+5679T>A (n.787+5679T>A)
c.4106T>A (p.Leu1369Ter)
8g.54627967T>CCA370981232RP1c.4085T>C (p.Leu1362Ser)
c.787+5679T>C (n.787+5679T>C)
c.4106T>C (p.Leu1369Ser)
8g.54627967T>GCA370981233RP1c.4085T>G (p.Leu1362Ter)
c.787+5679T>G (n.787+5679T>G)
c.4106T>G (p.Leu1369Ter)
8g.54627968A>CCA370981234RP1c.4086A>C (p.Leu1362Phe)
c.787+5680A>C (n.787+5680A>C)
c.4107A>C (p.Leu1369Phe)
8g.54627968A>GCA461099878RP1c.4086A>G (p.Leu1362=)
c.787+5680A>G (n.787+5680A>G)
c.4107A>G (p.Leu1369=)
8g.54627968A>TCA370981235RP1c.4086A>T (p.Leu1362Phe)
c.787+5680A>T (n.787+5680A>T)
c.4107A>T (p.Leu1369Phe)
8g.54627971_54627974delCA2687301980RP1c.4089_4092del (p.Arg1364ValfsTer8)
c.787+5683_787+5686del (n.787+5683_787+5686del)
c.4110_4113del (p.Arg1371ValfsTer8)
 ClinVar gnomAD v4
8g.54627969G>ACA370981238RP1c.4087G>A (p.Glu1363Lys)
c.787+5681G>A (n.787+5681G>A)
c.4108G>A (p.Glu1370Lys)
 dbSNP
8g.54627969G>CCA370981236RP1c.4087G>C (p.Glu1363Gln)
c.787+5681G>C (n.787+5681G>C)
c.4108G>C (p.Glu1370Gln)
8g.54627969G=CA1785188967RP1c.4087G= (p.Glu1363=)
c.787+5681G= (n.787+5681G=)
c.4108G= (p.Glu1370=)
8g.54627969G>TCA370981237RP1c.4087G>T (p.Glu1363Ter)
c.787+5681G>T (n.787+5681G>T)
c.4108G>T (p.Glu1370Ter)
8g.54627969_54627985delCA2523656826RP1c.4087_4103del (p.Glu1363SerfsTer11)
c.787+5681_787+5697del (n.787+5681_787+5697del)
c.4108_4124del (p.Glu1370SerfsTer11)
8g.54627970A=CA1785188968RP1c.4088A= (p.Glu1363=)
c.787+5682A= (n.787+5682A=)
c.4109A= (p.Glu1370=)
8g.54627970A>CCA370981239RP1c.4088A>C (p.Glu1363Ala)
c.787+5682A>C (n.787+5682A>C)
c.4109A>C (p.Glu1370Ala)
8g.54627970A>GCA370981240RP1c.4088A>G (p.Glu1363Gly)
c.787+5682A>G (n.787+5682A>G)
c.4109A>G (p.Glu1370Gly)
 dbSNP gnomAD v4
8g.54627970A>TCA370981241RP1c.4088A>T (p.Glu1363Val)
c.787+5682A>T (n.787+5682A>T)
c.4109A>T (p.Glu1370Val)
8g.54627971A>CCA370981242RP1c.4089A>C (p.Glu1363Asp)
c.787+5683A>C (n.787+5683A>C)
c.4110A>C (p.Glu1370Asp)
8g.54627971A>GCA461099880RP1c.4089A>G (p.Glu1363=)
c.787+5683A>G (n.787+5683A>G)
c.4110A>G (p.Glu1370=)
8g.54627971A>TCA370981243RP1c.4089A>T (p.Glu1363Asp)
c.787+5683A>T (n.787+5683A>T)
c.4110A>T (p.Glu1370Asp)
8g.54627972A>CCA461099882RP1c.4090A>C (p.Arg1364=)
c.787+5684A>C (n.787+5684A>C)
c.4111A>C (p.Arg1371=)
8g.54627972A>GCA370981244RP1c.4090A>G (p.Arg1364Gly)
c.787+5684A>G (n.787+5684A>G)
c.4111A>G (p.Arg1371Gly)
8g.54627972A>TCA370981245RP1c.4090A>T (p.Arg1364Ter)
c.787+5684A>T (n.787+5684A>T)
c.4111A>T (p.Arg1371Ter)
8g.54627973G>ACA4751798RP1c.4091G>A (p.Arg1364Lys)
c.787+5685G>A (n.787+5685G>A)
c.4112G>A (p.Arg1371Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.54627973G>CCA370981246RP1c.4091G>C (p.Arg1364Thr)
c.787+5685G>C (n.787+5685G>C)
c.4112G>C (p.Arg1371Thr)
 dbSNP COSMIC
8g.54627973G=CA1785188969RP1c.4091G= (p.Arg1364=)
c.787+5685G= (n.787+5685G=)
c.4112G= (p.Arg1371=)
8g.54627973G>TCA370981247RP1c.4091G>T (p.Arg1364Ile)
c.787+5685G>T (n.787+5685G>T)
c.4112G>T (p.Arg1371Ile)
8g.54627974A=CA1785188970RP1c.4092A= (p.Arg1364=)
c.787+5686A= (n.787+5686A=)
c.4113A= (p.Arg1371=)
8g.54627974A>CCA370981248RP1c.4092A>C (p.Arg1364Ser)
c.787+5686A>C (n.787+5686A>C)
c.4113A>C (p.Arg1371Ser)
8g.54627974A>GCA461099887RP1c.4092A>G (p.Arg1364=)
c.787+5686A>G (n.787+5686A>G)
c.4113A>G (p.Arg1371=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54627974A>TCA370981249RP1c.4092A>T (p.Arg1364Ser)
c.787+5686A>T (n.787+5686A>T)
c.4113A>T (p.Arg1371Ser)
8g.54627974_54627975delinsAGCA1785188971RP1c.4092_4093delinsAG (p.Arg1364=)
c.787+5686_787+5687delinsAG (n.787+5686_787+5687delinsAG)
c.4113_4114delinsAG (p.Arg1371=)
8g.54627975G>ACA370981251RP1c.4093G>A (p.Gly1365Ser)
c.787+5687G>A (n.787+5687G>A)
c.4114G>A (p.Gly1372Ser)
 gnomAD v4
8g.54627975G>CCA370981252RP1c.4093G>C (p.Gly1365Arg)
c.787+5687G>C (n.787+5687G>C)
c.4114G>C (p.Gly1372Arg)
8g.54627975G>TCA370981250RP1c.4093G>T (p.Gly1365Cys)
c.787+5687G>T (n.787+5687G>T)
c.4114G>T (p.Gly1372Cys)
 COSMIC
8g.54627976delCA1139660541RP1c.4094del (p.Gly1365ValfsTer8)
c.787+5688del (n.787+5688del)
c.4115del (p.Gly1372ValfsTer8)
 ClinVar dbSNP
8g.54627976G>ACA4751799RP1c.4094G>A (p.Gly1365Asp)
c.787+5688G>A (n.787+5688G>A)
c.4115G>A (p.Gly1372Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54627976G>CCA370981253RP1c.4094G>C (p.Gly1365Ala)
c.787+5688G>C (n.787+5688G>C)
c.4115G>C (p.Gly1372Ala)
8g.54627976G=CA1785188972RP1c.4094G= (p.Gly1365=)
c.787+5688G= (n.787+5688G=)
c.4115G= (p.Gly1372=)
8g.54627976G>TCA370981254RP1c.4094G>T (p.Gly1365Val)
c.787+5688G>T (n.787+5688G>T)
c.4115G>T (p.Gly1372Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.54627977T>ACA461099890RP1c.4095T>A (p.Gly1365=)
c.787+5689T>A (n.787+5689T>A)
c.4116T>A (p.Gly1372=)
8g.54627977T>CCA461099891RP1c.4095T>C (p.Gly1365=)
c.787+5689T>C (n.787+5689T>C)
c.4116T>C (p.Gly1372=)
8g.54627977T>GCA461099892RP1c.4095T>G (p.Gly1365=)
c.787+5689T>G (n.787+5689T>G)
c.4116T>G (p.Gly1372=)
8g.54627978G>ACA370981255RP1c.4096G>A (p.Asp1366Asn)
c.787+5690G>A (n.787+5690G>A)
c.4117G>A (p.Asp1373Asn)
8g.54627978G>CCA177181219RP1c.4096G>C (p.Asp1366His)
c.787+5690G>C (n.787+5690G>C)
c.4117G>C (p.Asp1373His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.54627978G=CA1785188973RP1c.4096G= (p.Asp1366=)
c.787+5690G= (n.787+5690G=)
c.4117G= (p.Asp1373=)
8g.54627978G>TCA370981256RP1c.4096G>T (p.Asp1366Tyr)
c.787+5690G>T (n.787+5690G>T)
c.4117G>T (p.Asp1373Tyr)
8g.54627979A>CCA370981257RP1c.4097A>C (p.Asp1366Ala)
c.787+5691A>C (n.787+5691A>C)
c.4118A>C (p.Asp1373Ala)
8g.54627979A>GCA370981258RP1c.4097A>G (p.Asp1366Gly)
c.787+5691A>G (n.787+5691A>G)
c.4118A>G (p.Asp1373Gly)
 ClinVar
8g.54627979A>TCA370981259RP1c.4097A>T (p.Asp1366Val)
c.787+5691A>T (n.787+5691A>T)
c.4118A>T (p.Asp1373Val)
8g.54627980delCA2780387051RP1c.4098del (p.Asp1366GlufsTer7)
c.787+5692del (n.787+5692del)
c.4119del (p.Asp1373GlufsTer7)
8g.54627980T>ACA370981260RP1c.4098T>A (p.Asp1366Glu)
c.787+5692T>A (n.787+5692T>A)
c.4119T>A (p.Asp1373Glu)
8g.54627980T>CCA461099897RP1c.4098T>C (p.Asp1366=)
c.787+5692T>C (n.787+5692T>C)
c.4119T>C (p.Asp1373=)
8g.54627980T>GCA370981261RP1c.4098T>G (p.Asp1366Glu)
c.787+5692T>G (n.787+5692T>G)
c.4119T>G (p.Asp1373Glu)
8g.54627981G>ACA370981262RP1c.4099G>A (p.Asp1367Asn)
c.787+5693G>A (n.787+5693G>A)
c.4120G>A (p.Asp1374Asn)
 dbSNP
8g.54627981G>CCA370981263RP1c.4099G>C (p.Asp1367His)
c.787+5693G>C (n.787+5693G>C)
c.4120G>C (p.Asp1374His)
8g.54627981G=CA1785188974RP1c.4099G= (p.Asp1367=)
c.787+5693G= (n.787+5693G=)
c.4120G= (p.Asp1374=)
8g.54627981G>TCA177181226RP1c.4099G>T (p.Asp1367Tyr)
c.787+5693G>T (n.787+5693G>T)
c.4120G>T (p.Asp1374Tyr)
 dbSNP gnomAD v4
8g.54627982delCA2687301981RP1c.4100del (p.Asp1367AlafsTer6)
c.787+5694del (n.787+5694del)
c.4121del (p.Asp1374AlafsTer6)
 gnomAD v4
8g.54627982A=CA1785188975RP1c.4100A= (p.Asp1367=)
c.787+5694A= (n.787+5694A=)
c.4121A= (p.Asp1374=)
8g.54627982A>CCA4751800RP1c.4100A>C (p.Asp1367Ala)
c.787+5694A>C (n.787+5694A>C)
c.4121A>C (p.Asp1374Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54627982A>GCA370981265RP1c.4100A>G (p.Asp1367Gly)
c.787+5694A>G (n.787+5694A>G)
c.4121A>G (p.Asp1374Gly)
 dbSNP
8g.54627982A>TCA370981264RP1c.4100A>T (p.Asp1367Val)
c.787+5694A>T (n.787+5694A>T)
c.4121A>T (p.Asp1374Val)
8g.54627983C>ACA370981266RP1c.4101C>A (p.Asp1367Glu)
c.787+5695C>A (n.787+5695C>A)
c.4122C>A (p.Asp1374Glu)
8g.54627983C>GCA370981267RP1c.4101C>G (p.Asp1367Glu)
c.787+5695C>G (n.787+5695C>G)
c.4122C>G (p.Asp1374Glu)
8g.54627983C>TCA461099904RP1c.4101C>T (p.Asp1367=)
c.787+5695C>T (n.787+5695C>T)
c.4122C>T (p.Asp1374=)
8g.54627984A=CA1785188976RP1c.4102A= (p.Ile1368=)
c.787+5696A= (n.787+5696A=)
c.4123A= (p.Ile1375=)
8g.54627984A>CCA370981268RP1c.4102A>C (p.Ile1368Leu)
c.787+5696A>C (n.787+5696A>C)
c.4123A>C (p.Ile1375Leu)
8g.54627984A>GCA177181239RP1c.4102A>G (p.Ile1368Val)
c.787+5696A>G (n.787+5696A>G)
c.4123A>G (p.Ile1375Val)
 dbSNP gnomAD v4
8g.54627984A>TCA370981269RP1c.4102A>T (p.Ile1368Phe)
c.787+5696A>T (n.787+5696A>T)
c.4123A>T (p.Ile1375Phe)
8g.54627985T>ACA370981270RP1c.4103T>A (p.Ile1368Asn)
c.787+5697T>A (n.787+5697T>A)
c.4124T>A (p.Ile1375Asn)
8g.54627985T>CCA370981271RP1c.4103T>C (p.Ile1368Thr)
c.787+5697T>C (n.787+5697T>C)
c.4124T>C (p.Ile1375Thr)
 gnomAD v4
8g.54627985T>GCA370981272RP1c.4103T>G (p.Ile1368Ser)
c.787+5697T>G (n.787+5697T>G)
c.4124T>G (p.Ile1375Ser)

Number of alleles fetched