Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.54627969_54627985delCA2523656826RP1c.4087_4103del (p.Glu1363SerfsTer11)
c.787+5681_787+5697del (n.787+5681_787+5697del)
c.4108_4124del (p.Glu1370SerfsTer11)
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)
8g.54627979A>TCA370981259RP1c.4097A>T (p.Asp1366Val)
c.787+5691A>T (n.787+5691A>T)
c.4118A>T (p.Asp1373Val)
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)
8g.54627986T>ACA461099906RP1c.4104T>A (p.Ile1368=)
c.787+5698T>A (n.787+5698T>A)
c.4125T>A (p.Ile1375=)
8g.54627986T>CCA461099907RP1c.4104T>C (p.Ile1368=)
c.787+5698T>C (n.787+5698T>C)
c.4125T>C (p.Ile1375=)
8g.54627986T>GCA370981273RP1c.4104T>G (p.Ile1368Met)
c.787+5698T>G (n.787+5698T>G)
c.4125T>G (p.Ile1375Met)
8g.54627987C>ACA370981274RP1c.4105C>A (p.Gln1369Lys)
c.787+5699C>A (n.787+5699C>A)
c.4126C>A (p.Gln1376Lys)
gnomAD v4
8g.54627987C=CA1785188977RP1c.4105C= (p.Gln1369=)
c.787+5699C= (n.787+5699C=)
c.4126C= (p.Gln1376=)
8g.54627987C>GCA370981275RP1c.4105C>G (p.Gln1369Glu)
c.787+5699C>G (n.787+5699C>G)
c.4126C>G (p.Gln1376Glu)
gnomAD v4
8g.54627987C>TCA4751801RP1c.4105C>T (p.Gln1369Ter)
c.787+5699C>T (n.787+5699C>T)
c.4126C>T (p.Gln1376Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54627988A>CCA370981277RP1c.4106A>C (p.Gln1369Pro)
c.787+5700A>C (n.787+5700A>C)
c.4127A>C (p.Gln1376Pro)
8g.54627988A>GCA370981278RP1c.4106A>G (p.Gln1369Arg)
c.787+5700A>G (n.787+5700A>G)
c.4127A>G (p.Gln1376Arg)
8g.54627988A>TCA370981276RP1c.4106A>T (p.Gln1369Leu)
c.787+5700A>T (n.787+5700A>T)
c.4127A>T (p.Gln1376Leu)
8g.54627988_54627995delCA2518729821RP1c.4106_4113del (p.Gln1369ProfsTer8)
c.787+5700_787+5707del (n.787+5700_787+5707del)
c.4127_4134del (p.Gln1376ProfsTer8)
8g.54627989G>ACA461099909RP1c.4107G>A (p.Gln1369=)
c.787+5701G>A (n.787+5701G>A)
c.4128G>A (p.Gln1376=)
8g.54627989G>CCA370981279RP1c.4107G>C (p.Gln1369His)
c.787+5701G>C (n.787+5701G>C)
c.4128G>C (p.Gln1376His)
ClinVar dbSNP gnomAD v4
8g.54627989G=CA1785188978RP1c.4107G= (p.Gln1369=)
c.787+5701G= (n.787+5701G=)
c.4128G= (p.Gln1376=)
8g.54627989G>TCA370981280RP1c.4107G>T (p.Gln1369His)
c.787+5701G>T (n.787+5701G>T)
c.4128G>T (p.Gln1376His)
gnomAD v4
8g.54627990A=CA1785188979RP1c.4108A= (p.Lys1370=)
c.787+5702A= (n.787+5702A=)
c.4129A= (p.Lys1377=)
8g.54627990A>CCA370981281RP1c.4108A>C (p.Lys1370Gln)
c.787+5702A>C (n.787+5702A>C)
c.4129A>C (p.Lys1377Gln)
8g.54627990A>GCA4751802RP1c.4108A>G (p.Lys1370Glu)
c.787+5702A>G (n.787+5702A>G)
c.4129A>G (p.Lys1377Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54627990A>TCA370981282RP1c.4108A>T (p.Lys1370Ter)
c.787+5702A>T (n.787+5702A>T)
c.4129A>T (p.Lys1377Ter)
8g.54627991A=CA1785188980RP1c.4109A= (p.Lys1370=)
c.787+5703A= (n.787+5703A=)
c.4130A= (p.Lys1377=)

Number of alleles fetched