Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121145921A=CA2004737591TBCEL-TECTA,TECTAc.3910A= (p.Ile1304=)
c.1217A=
n.475A=
c.4867A= (p.Ile1623=)
11g.121145921A>CCA383022767TBCEL-TECTA,TECTAc.3910A>C (p.Ile1304Leu)
c.1217A>C
n.475A>C
c.4867A>C (p.Ile1623Leu)
11g.121145921A>GCA383022768TBCEL-TECTA,TECTAc.3910A>G (p.Ile1304Val)
c.1217A>G
n.475A>G
c.4867A>G (p.Ile1623Val)
11g.121145921A>TCA229831649TBCEL-TECTA,TECTAc.3910A>T (p.Ile1304Phe)
c.1217A>T
n.475A>T
c.4867A>T (p.Ile1623Phe)
 dbSNP
11g.121145922T>ACA383022769TBCEL-TECTA,TECTAc.3911T>A (p.Ile1304Asn)
c.1218T>A
n.476T>A
c.4868T>A (p.Ile1623Asn)
11g.121145922T>CCA383022770TBCEL-TECTA,TECTAc.3911T>C (p.Ile1304Thr)
c.1218T>C
n.476T>C
c.4868T>C (p.Ile1623Thr)
11g.121145922T>GCA383022771TBCEL-TECTA,TECTAc.3911T>G (p.Ile1304Ser)
c.1218T>G
n.476T>G
c.4868T>G (p.Ile1623Ser)
11g.121145923C>ACA477382949TBCEL-TECTA,TECTAc.3912C>A (p.Ile1304=)
c.1219C>A
n.477C>A
c.4869C>A (p.Ile1623=)
11g.121145923C=CA2004737592TBCEL-TECTA,TECTAc.3912C= (p.Ile1304=)
c.1219C=
n.477C=
c.4869C= (p.Ile1623=)
11g.121145923C>GCA383022772TBCEL-TECTA,TECTAc.3912C>G (p.Ile1304Met)
c.1219C>G
n.477C>G
c.4869C>G (p.Ile1623Met)
11g.121145923C>TCA477382950TBCEL-TECTA,TECTAc.3912C>T (p.Ile1304=)
c.1219C>T
n.477C>T
c.4869C>T (p.Ile1623=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121145924C>ACA383022775TBCEL-TECTA,TECTAc.3913C>A (p.Pro1305Thr)
c.1220C>A
n.478C>A
c.4870C>A (p.Pro1624Thr)
11g.121145924C>GCA383022774TBCEL-TECTA,TECTAc.3913C>G (p.Pro1305Ala)
c.1220C>G
n.478C>G
c.4870C>G (p.Pro1624Ala)
 dbSNP
11g.121145924C>TCA383022773TBCEL-TECTA,TECTAc.3913C>T (p.Pro1305Ser)
c.1220C>T
n.478C>T
c.4870C>T (p.Pro1624Ser)
11g.121145925C>ACA383022776TBCEL-TECTA,TECTAc.3914C>A (p.Pro1305His)
c.1221C>A
n.479C>A
c.4871C>A (p.Pro1624His)
11g.121145925C>GCA383022777TBCEL-TECTA,TECTAc.3914C>G (p.Pro1305Arg)
c.1221C>G
n.479C>G
c.4871C>G (p.Pro1624Arg)
11g.121145925C>TCA383022778TBCEL-TECTA,TECTAc.3914C>T (p.Pro1305Leu)
c.1221C>T
n.479C>T
c.4871C>T (p.Pro1624Leu)
11g.121145926C>ACA477382954TBCEL-TECTA,TECTAc.3915C>A (p.Pro1305=)
c.1222C>A
n.480C>A
c.4872C>A (p.Pro1624=)
11g.121145926C=CA2004737593TBCEL-TECTA,TECTAc.3915C= (p.Pro1305=)
c.1222C=
n.480C=
c.4872C= (p.Pro1624=)
11g.121145926C>GCA477382955TBCEL-TECTA,TECTAc.3915C>G (p.Pro1305=)
c.1222C>G
n.480C>G
c.4872C>G (p.Pro1624=)
11g.121145926C>TCA477382953TBCEL-TECTA,TECTAc.3915C>T (p.Pro1305=)
c.1222C>T
n.480C>T
c.4872C>T (p.Pro1624=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.121145927A=CA2004737594TBCEL-TECTA,TECTAc.3916A= (p.Asn1306=)
c.1223A=
n.481A=
c.4873A= (p.Asn1625=)
11g.121145927A>CCA383022779TBCEL-TECTA,TECTAc.3916A>C (p.Asn1306His)
c.1223A>C
n.481A>C
c.4873A>C (p.Asn1625His)
 dbSNP gnomAD v3 gnomAD v4
11g.121145927A>GCA383022780TBCEL-TECTA,TECTAc.3916A>G (p.Asn1306Asp)
c.1223A>G
n.481A>G
c.4873A>G (p.Asn1625Asp)
11g.121145927A>TCA383022781TBCEL-TECTA,TECTAc.3916A>T (p.Asn1306Tyr)
c.1223A>T
n.481A>T
c.4873A>T (p.Asn1625Tyr)
11g.121145928A=CA2004737595TBCEL-TECTA,TECTAc.3917A= (p.Asn1306=)
c.1224A=
n.482A=
c.4874A= (p.Asn1625=)
11g.121145928A>CCA383022782TBCEL-TECTA,TECTAc.3917A>C (p.Asn1306Thr)
c.1224A>C
n.482A>C
c.4874A>C (p.Asn1625Thr)
11g.121145928A>GCA6327310TBCEL-TECTA,TECTAc.3917A>G (p.Asn1306Ser)
c.1224A>G
n.482A>G
c.4874A>G (p.Asn1625Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145928A>TCA6327311TBCEL-TECTA,TECTAc.3917A>T (p.Asn1306Ile)
c.1224A>T
n.482A>T
c.4874A>T (p.Asn1625Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145929C>ACA383022783TBCEL-TECTA,TECTAc.3918C>A (p.Asn1306Lys)
c.1225C>A
n.483C>A
c.4875C>A (p.Asn1625Lys)
 gnomAD v4
11g.121145929C=CA2004737596TBCEL-TECTA,TECTAc.3918C= (p.Asn1306=)
c.1225C=
n.483C=
c.4875C= (p.Asn1625=)
11g.121145929C>GCA383022784TBCEL-TECTA,TECTAc.3918C>G (p.Asn1306Lys)
c.1225C>G
n.483C>G
c.4875C>G (p.Asn1625Lys)
 gnomAD v4
11g.121145929C>TCA477382958TBCEL-TECTA,TECTAc.3918C>T (p.Asn1306=)
c.1225C>T
n.483C>T
c.4875C>T (p.Asn1625=)
 dbSNP
11g.121145930C>ACA383022785TBCEL-TECTA,TECTAc.3919C>A (p.Gln1307Lys)
c.1226C>A
n.484C>A
c.4876C>A (p.Gln1626Lys)
11g.121145930C>GCA383022786TBCEL-TECTA,TECTAc.3919C>G (p.Gln1307Glu)
c.1226C>G
n.484C>G
c.4876C>G (p.Gln1626Glu)
11g.121145930C>TCA383022787TBCEL-TECTA,TECTAc.3919C>T (p.Gln1307Ter)
c.1226C>T
n.484C>T
c.4876C>T (p.Gln1626Ter)
11g.121145931A>CCA383022788TBCEL-TECTA,TECTAc.3920A>C (p.Gln1307Pro)
c.1227A>C
n.485A>C
c.4877A>C (p.Gln1626Pro)
11g.121145931A>GCA383022789TBCEL-TECTA,TECTAc.3920A>G (p.Gln1307Arg)
c.1227A>G
n.485A>G
c.4877A>G (p.Gln1626Arg)
11g.121145931A>TCA383022790TBCEL-TECTA,TECTAc.3920A>T (p.Gln1307Leu)
c.1227A>T
n.485A>T
c.4877A>T (p.Gln1626Leu)
11g.121145932G>ACA477382961TBCEL-TECTA,TECTAc.3921G>A (p.Gln1307=)
c.1228G>A
n.486G>A
c.4878G>A (p.Gln1626=)
11g.121145932G>CCA383022791TBCEL-TECTA,TECTAc.3921G>C (p.Gln1307His)
c.1228G>C
n.486G>C
c.4878G>C (p.Gln1626His)
11g.121145932G>TCA383022792TBCEL-TECTA,TECTAc.3921G>T (p.Gln1307His)
c.1228G>T
n.486G>T
c.4878G>T (p.Gln1626His)
11g.121145933A>CCA383022793TBCEL-TECTA,TECTAc.3922A>C (p.Asn1308His)
c.1229A>C
n.487A>C
c.4879A>C (p.Asn1627His)
11g.121145933A>GCA383022794TBCEL-TECTA,TECTAc.3922A>G (p.Asn1308Asp)
c.1229A>G
n.487A>G
c.4879A>G (p.Asn1627Asp)
11g.121145933A>TCA383022795TBCEL-TECTA,TECTAc.3922A>T (p.Asn1308Tyr)
c.1229A>T
n.487A>T
c.4879A>T (p.Asn1627Tyr)
11g.121145933_121145942delinsAACGCTGCCTCA2004737597TBCEL-TECTA,TECTAc.3922_3931delinsAACGCTGCCT (p.Asn1308=)
c.1229_1238delinsAACGCTGCCT
n.487_496delinsAACGCTGCCT
c.4879_4888delinsAACGCTGCCT (p.Asn1627=)
11g.121145934A>CCA383022796TBCEL-TECTA,TECTAc.3923A>C (p.Asn1308Thr)
c.1230A>C
n.488A>C
c.4880A>C (p.Asn1627Thr)
11g.121145934A>GCA383022797TBCEL-TECTA,TECTAc.3923A>G (p.Asn1308Ser)
c.1230A>G
n.488A>G
c.4880A>G (p.Asn1627Ser)
11g.121145934A>TCA383022798TBCEL-TECTA,TECTAc.3923A>T (p.Asn1308Ile)
c.1230A>T
n.488A>T
c.4880A>T (p.Asn1627Ile)
11g.121145934_121145942delCA2004737598TBCEL-TECTA,TECTAc.3923_3931del (p.Asn1308_Phe1311delinsIle)
c.1230_1238del
n.488_496del
c.4880_4888del (p.Asn1627_Phe1630delinsIle)
 dbSNP
11g.121145935C>ACA383022799TBCEL-TECTA,TECTAc.3924C>A (p.Asn1308Lys)
c.1231C>A
n.489C>A
c.4881C>A (p.Asn1627Lys)
11g.121145935C=CA2004737599TBCEL-TECTA,TECTAc.3924C= (p.Asn1308=)
c.1231C=
n.489C=
c.4881C= (p.Asn1627=)
11g.121145935C>GCA383022800TBCEL-TECTA,TECTAc.3924C>G (p.Asn1308Lys)
c.1231C>G
n.489C>G
c.4881C>G (p.Asn1627Lys)
11g.121145935C>TCA229831666TBCEL-TECTA,TECTAc.3924C>T (p.Asn1308=)
c.1231C>T
n.489C>T
c.4881C>T (p.Asn1627=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121145936G>ACA183713TBCEL-TECTA,TECTAc.3925G>A (p.Ala1309Thr)
c.1232G>A
n.490G>A
c.4882G>A (p.Ala1628Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145936G>CCA383022801TBCEL-TECTA,TECTAc.3925G>C (p.Ala1309Pro)
c.1232G>C
n.490G>C
c.4882G>C (p.Ala1628Pro)
11g.121145936G=CA2004737600TBCEL-TECTA,TECTAc.3925G= (p.Ala1309=)
c.1232G=
n.490G=
c.4882G= (p.Ala1628=)
11g.121145936G>TCA6327312TBCEL-TECTA,TECTAc.3925G>T (p.Ala1309Ser)
c.1232G>T
n.490G>T
c.4882G>T (p.Ala1628Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145937C>ACA383022802TBCEL-TECTA,TECTAc.3926C>A (p.Ala1309Asp)
c.1233C>A
n.491C>A
c.4883C>A (p.Ala1628Asp)
 gnomAD v4
11g.121145937C>GCA383022803TBCEL-TECTA,TECTAc.3926C>G (p.Ala1309Gly)
c.1233C>G
n.491C>G
c.4883C>G (p.Ala1628Gly)
11g.121145937C>TCA383022804TBCEL-TECTA,TECTAc.3926C>T (p.Ala1309Val)
c.1233C>T
n.491C>T
c.4883C>T (p.Ala1628Val)
11g.121145938T>ACA477382970TBCEL-TECTA,TECTAc.3927T>A (p.Ala1309=)
c.1234T>A
n.492T>A
c.4884T>A (p.Ala1628=)
 gnomAD v4
11g.121145938T>CCA477382971TBCEL-TECTA,TECTAc.3927T>C (p.Ala1309=)
c.1234T>C
n.492T>C
c.4884T>C (p.Ala1628=)
11g.121145938T>GCA477382969TBCEL-TECTA,TECTAc.3927T>G (p.Ala1309=)
c.1234T>G
n.492T>G
c.4884T>G (p.Ala1628=)
11g.121145939G>ACA383022805TBCEL-TECTA,TECTAc.3928G>A (p.Ala1310Thr)
c.1235G>A
n.493G>A
c.4885G>A (p.Ala1629Thr)
11g.121145939G>CCA383022806TBCEL-TECTA,TECTAc.3928G>C (p.Ala1310Pro)
c.1235G>C
n.493G>C
c.4885G>C (p.Ala1629Pro)
11g.121145939G>TCA383022807TBCEL-TECTA,TECTAc.3928G>T (p.Ala1310Ser)
c.1235G>T
n.493G>T
c.4885G>T (p.Ala1629Ser)
 COSMIC
11g.121145940C>ACA383022808TBCEL-TECTA,TECTAc.3929C>A (p.Ala1310Asp)
c.1236C>A
n.494C>A
c.4886C>A (p.Ala1629Asp)
11g.121145940C>GCA383022809TBCEL-TECTA,TECTAc.3929C>G (p.Ala1310Gly)
c.1236C>G
n.494C>G
c.4886C>G (p.Ala1629Gly)
11g.121145940C>TCA383022810TBCEL-TECTA,TECTAc.3929C>T (p.Ala1310Val)
c.1236C>T
n.494C>T
c.4886C>T (p.Ala1629Val)
11g.121145941C>ACA477382973TBCEL-TECTA,TECTAc.3930C>A (p.Ala1310=)
c.1237C>A
n.495C>A
c.4887C>A (p.Ala1629=)
11g.121145941C>GCA477382974TBCEL-TECTA,TECTAc.3930C>G (p.Ala1310=)
c.1237C>G
n.495C>G
c.4887C>G (p.Ala1629=)
11g.121145941C>TCA477382976TBCEL-TECTA,TECTAc.3930C>T (p.Ala1310=)
c.1237C>T
n.495C>T
c.4887C>T (p.Ala1629=)
11g.121145942T>ACA383022811TBCEL-TECTA,TECTAc.3931T>A (p.Phe1311Ile)
c.1238T>A
n.496T>A
c.4888T>A (p.Phe1630Ile)
11g.121145942T>CCA383022813TBCEL-TECTA,TECTAc.3931T>C (p.Phe1311Leu)
c.1238T>C
n.496T>C
c.4888T>C (p.Phe1630Leu)
11g.121145942T>GCA383022812TBCEL-TECTA,TECTAc.3931T>G (p.Phe1311Val)
c.1238T>G
n.496T>G
c.4888T>G (p.Phe1630Val)
11g.121145943T>ACA383022814TBCEL-TECTA,TECTAc.3932T>A (p.Phe1311Tyr)
c.1239T>A
n.497T>A
c.4889T>A (p.Phe1630Tyr)
11g.121145943T>CCA383022815TBCEL-TECTA,TECTAc.3932T>C (p.Phe1311Ser)
c.1239T>C
n.497T>C
c.4889T>C (p.Phe1630Ser)
11g.121145943T>GCA383022816TBCEL-TECTA,TECTAc.3932T>G (p.Phe1311Cys)
c.1239T>G
n.497T>G
c.4889T>G (p.Phe1630Cys)
11g.121145944C>ACA383022817TBCEL-TECTA,TECTAc.3933C>A (p.Phe1311Leu)
c.1240C>A
n.498C>A
c.4890C>A (p.Phe1630Leu)
 gnomAD v4
11g.121145944C=CA2004737601TBCEL-TECTA,TECTAc.3933C= (p.Phe1311=)
c.1240C=
n.498C=
c.4890C= (p.Phe1630=)
11g.121145944C>GCA6327313TBCEL-TECTA,TECTAc.3933C>G (p.Phe1311Leu)
c.1240C>G
n.498C>G
c.4890C>G (p.Phe1630Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145944C>TCA477382981TBCEL-TECTA,TECTAc.3933C>T (p.Phe1311=)
c.1240C>T
n.498C>T
c.4890C>T (p.Phe1630=)
 dbSNP
11g.121145945T>ACA383022818TBCEL-TECTA,TECTAc.3934T>A (p.Ser1312Thr)
c.1241T>A
n.499T>A
c.4891T>A (p.Ser1631Thr)
11g.121145945T>CCA383022819TBCEL-TECTA,TECTAc.3934T>C (p.Ser1312Pro)
c.1241T>C
n.499T>C
c.4891T>C (p.Ser1631Pro)
11g.121145945T>GCA383022820TBCEL-TECTA,TECTAc.3934T>G (p.Ser1312Ala)
c.1241T>G
n.499T>G
c.4891T>G (p.Ser1631Ala)
11g.121145946C>ACA383022821TBCEL-TECTA,TECTAc.3935C>A (p.Ser1312Tyr)
c.1242C>A
n.500C>A
c.4892C>A (p.Ser1631Tyr)
11g.121145946C>GCA383022822TBCEL-TECTA,TECTAc.3935C>G (p.Ser1312Cys)
c.1242C>G
n.500C>G
c.4892C>G (p.Ser1631Cys)
11g.121145946C>TCA383022823TBCEL-TECTA,TECTAc.3935C>T (p.Ser1312Phe)
c.1242C>T
n.500C>T
c.4892C>T (p.Ser1631Phe)
 gnomAD v4
11g.121145947C>ACA477382986TBCEL-TECTA,TECTAc.3936C>A (p.Ser1312=)
c.1243C>A
n.501C>A
c.4893C>A (p.Ser1631=)
11g.121145947C=CA2004737602TBCEL-TECTA,TECTAc.3936C= (p.Ser1312=)
c.1243C=
n.501C=
c.4893C= (p.Ser1631=)
11g.121145947C>GCA477382987TBCEL-TECTA,TECTAc.3936C>G (p.Ser1312=)
c.1243C>G
n.501C>G
c.4893C>G (p.Ser1631=)
11g.121145947C>TCA6327314TBCEL-TECTA,TECTAc.3936C>T (p.Ser1312=)
c.1243C>T
n.501C>T
c.4893C>T (p.Ser1631=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145948A>CCA383022825TBCEL-TECTA,TECTAc.3937A>C (p.Lys1313Gln)
c.1244A>C
n.502A>C
c.4894A>C (p.Lys1632Gln)
11g.121145948A>GCA383022826TBCEL-TECTA,TECTAc.3937A>G (p.Lys1313Glu)
c.1244A>G
n.502A>G
c.4894A>G (p.Lys1632Glu)
11g.121145948A>TCA383022824TBCEL-TECTA,TECTAc.3937A>T (p.Lys1313Ter)
c.1244A>T
n.502A>T
c.4894A>T (p.Lys1632Ter)
11g.121145948_121145949insGCTCTCA2616488597TBCEL-TECTA,TECTAc.3937_3938insGCTCT (p.Lys1313SerfsTer?)
c.1244_1245insGCTCT
n.502_503insGCTCT
c.4894_4895insGCTCT (p.Lys1632SerfsTer?)
 gnomAD v4
11g.121145949A=CA2004737603TBCEL-TECTA,TECTAc.3938A= (p.Lys1313=)
c.1245A=
n.503A=
c.4895A= (p.Lys1632=)
11g.121145949A>CCA383022827TBCEL-TECTA,TECTAc.3938A>C (p.Lys1313Thr)
c.1245A>C
n.503A>C
c.4895A>C (p.Lys1632Thr)
11g.121145949A>GCA383022828TBCEL-TECTA,TECTAc.3938A>G (p.Lys1313Arg)
c.1245A>G
n.503A>G
c.4895A>G (p.Lys1632Arg)
 dbSNP gnomAD v4
11g.121145949A>TCA383022829TBCEL-TECTA,TECTAc.3938A>T (p.Lys1313Met)
c.1245A>T
n.503A>T
c.4895A>T (p.Lys1632Met)
11g.121145949_121145950insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTGCA2616488598TBCEL-TECTA,TECTAc.3938_3939insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG (p.Lys1313AsnfsTer27)
c.1245_1246insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG
n.503_504insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG
c.4895_4896insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG (p.Lys1632AsnfsTer27)
 gnomAD v4
11g.121145950G>ACA477382991TBCEL-TECTA,TECTAc.3939G>A (p.Lys1313=)
c.1246G>A
n.504G>A
c.4896G>A (p.Lys1632=)
 gnomAD v4
11g.121145950G>CCA383022830TBCEL-TECTA,TECTAc.3939G>C (p.Lys1313Asn)
c.1246G>C
n.504G>C
c.4896G>C (p.Lys1632Asn)
11g.121145950G>TCA383022831TBCEL-TECTA,TECTAc.3939G>T (p.Lys1313Asn)
c.1246G>T
n.504G>T
c.4896G>T (p.Lys1632Asn)
11g.121145951T>ACA383022833TBCEL-TECTA,TECTAc.3940T>A (p.Cys1314Ser)
c.1247T>A
n.505T>A
c.4897T>A (p.Cys1633Ser)
 dbSNP gnomAD v4
11g.121145951T>CCA6327315TBCEL-TECTA,TECTAc.3940T>C (p.Cys1314Arg)
c.1247T>C
n.505T>C
c.4897T>C (p.Cys1633Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145951T>GCA383022832TBCEL-TECTA,TECTAc.3940T>G (p.Cys1314Gly)
c.1247T>G
n.505T>G
c.4897T>G (p.Cys1633Gly)
11g.121145951T=CA2004737604TBCEL-TECTA,TECTAc.3940T= (p.Cys1314=)
c.1247T=
n.505T=
c.4897T= (p.Cys1633=)
11g.121145952G>ACA383022834TBCEL-TECTA,TECTAc.3941G>A (p.Cys1314Tyr)
c.1248G>A
n.506G>A
c.4898G>A (p.Cys1633Tyr)
11g.121145952G>CCA383022835TBCEL-TECTA,TECTAc.3941G>C (p.Cys1314Ser)
c.1248G>C
n.506G>C
c.4898G>C (p.Cys1633Ser)
11g.121145952G>TCA383022836TBCEL-TECTA,TECTAc.3941G>T (p.Cys1314Phe)
c.1248G>T
n.506G>T
c.4898G>T (p.Cys1633Phe)
11g.121145953T>ACA229831697TBCEL-TECTA,TECTAc.3942T>A (p.Cys1314Ter)
c.1249T>A
n.507T>A
c.4899T>A (p.Cys1633Ter)
 dbSNP
11g.121145953T>CCA477382998TBCEL-TECTA,TECTAc.3942T>C (p.Cys1314=)
c.1249T>C
n.507T>C
c.4899T>C (p.Cys1633=)
11g.121145953T>GCA383022837TBCEL-TECTA,TECTAc.3942T>G (p.Cys1314Trp)
c.1249T>G
n.507T>G
c.4899T>G (p.Cys1633Trp)
11g.121145953T=CA2004737605TBCEL-TECTA,TECTAc.3942T= (p.Cys1314=)
c.1249T=
n.507T=
c.4899T= (p.Cys1633=)
11g.121145954C>ACA383022840TBCEL-TECTA,TECTAc.3943C>A (p.His1315Asn)
c.1250C>A
n.508C>A
c.4900C>A (p.His1634Asn)
11g.121145954C>GCA383022838TBCEL-TECTA,TECTAc.3943C>G (p.His1315Asp)
c.1250C>G
n.508C>G
c.4900C>G (p.His1634Asp)
11g.121145954C>TCA383022839TBCEL-TECTA,TECTAc.3943C>T (p.His1315Tyr)
c.1250C>T
n.508C>T
c.4900C>T (p.His1634Tyr)
11g.121145955A>CCA383022841TBCEL-TECTA,TECTAc.3944A>C (p.His1315Pro)
c.1251A>C
n.509A>C
c.4901A>C (p.His1634Pro)
11g.121145955A>GCA383022842TBCEL-TECTA,TECTAc.3944A>G (p.His1315Arg)
c.1251A>G
n.509A>G
c.4901A>G (p.His1634Arg)
11g.121145955A>TCA383022843TBCEL-TECTA,TECTAc.3944A>T (p.His1315Leu)
c.1251A>T
n.509A>T
c.4901A>T (p.His1634Leu)
 COSMIC
11g.121145956C>ACA383022844TBCEL-TECTA,TECTAc.3945C>A (p.His1315Gln)
c.1252C>A
n.510C>A
c.4902C>A (p.His1634Gln)
11g.121145956C=CA2004737606TBCEL-TECTA,TECTAc.3945C= (p.His1315=)
c.1252C=
n.510C=
c.4902C= (p.His1634=)
11g.121145956C>GCA383022845TBCEL-TECTA,TECTAc.3945C>G (p.His1315Gln)
c.1252C>G
n.510C>G
c.4902C>G (p.His1634Gln)
11g.121145956C>TCA6327316TBCEL-TECTA,TECTAc.3945C>T (p.His1315=)
c.1252C>T
n.510C>T
c.4902C>T (p.His1634=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145957A>CCA383022848TBCEL-TECTA,TECTAc.3946A>C (p.Ser1316Arg)
c.1253A>C
n.511A>C
c.4903A>C (p.Ser1635Arg)
11g.121145957A>GCA383022847TBCEL-TECTA,TECTAc.3946A>G (p.Ser1316Gly)
c.1253A>G
n.511A>G
c.4903A>G (p.Ser1635Gly)
11g.121145957A>TCA383022846TBCEL-TECTA,TECTAc.3946A>T (p.Ser1316Cys)
c.1253A>T
n.511A>T
c.4903A>T (p.Ser1635Cys)
11g.121145958G>ACA383022849TBCEL-TECTA,TECTAc.3947G>A (p.Ser1316Asn)
c.1254G>A
n.512G>A
c.4904G>A (p.Ser1635Asn)
 dbSNP gnomAD v4
11g.121145958G>CCA383022850TBCEL-TECTA,TECTAc.3947G>C (p.Ser1316Thr)
c.1254G>C
n.512G>C
c.4904G>C (p.Ser1635Thr)
 ClinVar dbSNP
11g.121145958G=CA2004737607TBCEL-TECTA,TECTAc.3947G= (p.Ser1316=)
c.1254G=
n.512G=
c.4904G= (p.Ser1635=)
11g.121145958G>TCA383022851TBCEL-TECTA,TECTAc.3947G>T (p.Ser1316Ile)
c.1254G>T
n.512G>T
c.4904G>T (p.Ser1635Ile)
11g.121145959C>ACA383022852TBCEL-TECTA,TECTAc.3948C>A (p.Ser1316Arg)
c.1255C>A
n.513C>A
c.4905C>A (p.Ser1635Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.121145959C=CA2004737608TBCEL-TECTA,TECTAc.3948C= (p.Ser1316=)
c.1255C=
n.513C=
c.4905C= (p.Ser1635=)
11g.121145959C>GCA383022853TBCEL-TECTA,TECTAc.3948C>G (p.Ser1316Arg)
c.1255C>G
n.513C>G
c.4905C>G (p.Ser1635Arg)
11g.121145959C>TCA477383002TBCEL-TECTA,TECTAc.3948C>T (p.Ser1316=)
c.1255C>T
n.513C>T
c.4905C>T (p.Ser1635=)
11g.121145959_121145961delinsCAACA2004737609TBCEL-TECTA,TECTAc.3948_3950delinsCAA (p.Ser1316=)
c.1255_1257delinsCAA
n.513_515delinsCAA
c.4905_4907delinsCAA (p.Ser1635=)
11g.121145960A>CCA383022856TBCEL-TECTA,TECTAc.3949A>C (p.Lys1317Gln)
c.1256A>C
n.514A>C
c.4906A>C (p.Lys1636Gln)
11g.121145960A>GCA383022854TBCEL-TECTA,TECTAc.3949A>G (p.Lys1317Glu)
c.1256A>G
n.514A>G
c.4906A>G (p.Lys1636Glu)
11g.121145960A>TCA383022855TBCEL-TECTA,TECTAc.3949A>T (p.Lys1317Ter)
c.1256A>T
n.514A>T
c.4906A>T (p.Lys1636Ter)
11g.121145961_121145962delCA229831701TBCEL-TECTA,TECTAc.3950_3951del (p.Lys1317SerfsTer2)
c.1257_1258del
n.515_516del
c.4907_4908del (p.Lys1636SerfsTer2)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121145961A>CCA383022857TBCEL-TECTA,TECTAc.3950A>C (p.Lys1317Thr)
c.1257A>C
n.515A>C
c.4907A>C (p.Lys1636Thr)
11g.121145961A>GCA383022858TBCEL-TECTA,TECTAc.3950A>G (p.Lys1317Arg)
c.1257A>G
n.515A>G
c.4907A>G (p.Lys1636Arg)
11g.121145961A>TCA383022859TBCEL-TECTA,TECTAc.3950A>T (p.Lys1317Ile)
c.1257A>T
n.515A>T
c.4907A>T (p.Lys1636Ile)
11g.121145962A>CCA383022860TBCEL-TECTA,TECTAc.3951A>C (p.Lys1317Asn)
c.1258A>C
n.516A>C
c.4908A>C (p.Lys1636Asn)
11g.121145962A>GCA477383120TBCEL-TECTA,TECTAc.3951A>G (p.Lys1317=)
c.1258A>G
n.516A>G
c.4908A>G (p.Lys1636=)
11g.121145962A>TCA383022861TBCEL-TECTA,TECTAc.3951A>T (p.Lys1317Asn)
c.1258A>T
n.516A>T
c.4908A>T (p.Lys1636Asn)
11g.121145963G>ACA383022862TBCEL-TECTA,TECTAc.3952G>A (p.Val1318Ile)
c.1259G>A
n.517G>A
c.4909G>A (p.Val1637Ile)
11g.121145963G>CCA383022863TBCEL-TECTA,TECTAc.3952G>C (p.Val1318Leu)
c.1259G>C
n.517G>C
c.4909G>C (p.Val1637Leu)
11g.121145963G>TCA383022864TBCEL-TECTA,TECTAc.3952G>T (p.Val1318Phe)
c.1259G>T
n.517G>T
c.4909G>T (p.Val1637Phe)
11g.121145964T>ACA383022865TBCEL-TECTA,TECTAc.3953T>A (p.Val1318Asp)
c.1260T>A
n.518T>A
c.4910T>A (p.Val1637Asp)
11g.121145964T>CCA383022866TBCEL-TECTA,TECTAc.3953T>C (p.Val1318Ala)
c.1260T>C
n.518T>C
c.4910T>C (p.Val1637Ala)
11g.121145964T>GCA383022867TBCEL-TECTA,TECTAc.3953T>G (p.Val1318Gly)
c.1260T>G
n.518T>G
c.4910T>G (p.Val1637Gly)
 COSMIC
11g.121145965T>ACA477383125TBCEL-TECTA,TECTAc.3954T>A (p.Val1318=)
c.1261T>A
n.519T>A
c.4911T>A (p.Val1637=)
11g.121145965T>CCA477383123TBCEL-TECTA,TECTAc.3954T>C (p.Val1318=)
c.1261T>C
n.519T>C
c.4911T>C (p.Val1637=)
 gnomAD v4
11g.121145965T>GCA477383124TBCEL-TECTA,TECTAc.3954T>G (p.Val1318=)
c.1261T>G
n.519T>G
c.4911T>G (p.Val1637=)
11g.121145966A>CCA383022868TBCEL-TECTA,TECTAc.3955A>C (p.Asn1319His)
c.1262A>C
n.520A>C
c.4912A>C (p.Asn1638His)
11g.121145966A>GCA383022870TBCEL-TECTA,TECTAc.3955A>G (p.Asn1319Asp)
c.1262A>G
n.520A>G
c.4912A>G (p.Asn1638Asp)
11g.121145966A>TCA383022869TBCEL-TECTA,TECTAc.3955A>T (p.Asn1319Tyr)
c.1262A>T
n.520A>T
c.4912A>T (p.Asn1638Tyr)
11g.121145967A>CCA383022871TBCEL-TECTA,TECTAc.3956A>C (p.Asn1319Thr)
c.1263A>C
n.521A>C
c.4913A>C (p.Asn1638Thr)
11g.121145967A>GCA383022872TBCEL-TECTA,TECTAc.3956A>G (p.Asn1319Ser)
c.1263A>G
n.521A>G
c.4913A>G (p.Asn1638Ser)
11g.121145967A>TCA383022873TBCEL-TECTA,TECTAc.3956A>T (p.Asn1319Ile)
c.1263A>T
n.521A>T
c.4913A>T (p.Asn1638Ile)
11g.121145968C>ACA383022874TBCEL-TECTA,TECTAc.3957C>A (p.Asn1319Lys)
c.1264C>A
n.522C>A
c.4914C>A (p.Asn1638Lys)
11g.121145968C=CA2004737610TBCEL-TECTA,TECTAc.3957C= (p.Asn1319=)
c.1264C=
n.522C=
c.4914C= (p.Asn1638=)
11g.121145968C>GCA229831711TBCEL-TECTA,TECTAc.3957C>G (p.Asn1319Lys)
c.1264C>G
n.522C>G
c.4914C>G (p.Asn1638Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121145968C>TCA477383128TBCEL-TECTA,TECTAc.3957C>T (p.Asn1319=)
c.1264C>T
n.522C>T
c.4914C>T (p.Asn1638=)
11g.121145969C>ACA383022875TBCEL-TECTA,TECTAc.3958C>A (p.Pro1320Thr)
c.1265C>A
n.523C>A
c.4915C>A (p.Pro1639Thr)
11g.121145969C=CA2004737611TBCEL-TECTA,TECTAc.3958C= (p.Pro1320=)
c.1265C=
n.523C=
c.4915C= (p.Pro1639=)
11g.121145969C>GCA6327318TBCEL-TECTA,TECTAc.3958C>G (p.Pro1320Ala)
c.1265C>G
n.523C>G
c.4915C>G (p.Pro1639Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145969C>TCA6327317TBCEL-TECTA,TECTAc.3958C>T (p.Pro1320Ser)
c.1265C>T
n.523C>T
c.4915C>T (p.Pro1639Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145970C>ACA383022876TBCEL-TECTA,TECTAc.3959C>A (p.Pro1320His)
c.1266C>A
n.524C>A
c.4916C>A (p.Pro1639His)
11g.121145970C>GCA383022877TBCEL-TECTA,TECTAc.3959C>G (p.Pro1320Arg)
c.1266C>G
n.524C>G
c.4916C>G (p.Pro1639Arg)
11g.121145970C>TCA383022878TBCEL-TECTA,TECTAc.3959C>T (p.Pro1320Leu)
c.1266C>T
n.524C>T
c.4916C>T (p.Pro1639Leu)
 COSMIC
11g.121145971C>ACA477383129TBCEL-TECTA,TECTAc.3960C>A (p.Pro1320=)
c.1267C>A
n.525C>A
c.4917C>A (p.Pro1639=)
11g.121145971C=CA2004737612TBCEL-TECTA,TECTAc.3960C= (p.Pro1320=)
c.1267C=
n.525C=
c.4917C= (p.Pro1639=)
11g.121145971C>GCA6327319TBCEL-TECTA,TECTAc.3960C>G (p.Pro1320=)
c.1267C>G
n.525C>G
c.4917C>G (p.Pro1639=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145971C>TCA477383131TBCEL-TECTA,TECTAc.3960C>T (p.Pro1320=)
c.1267C>T
n.525C>T
c.4917C>T (p.Pro1639=)
11g.121145972delCA2575008440TBCEL-TECTA,TECTAc.3961del (p.Thr1321ProfsTer?)
c.1268del
n.526del
c.4918del (p.Thr1640ProfsTer?)
11g.121145972A>CCA383022881TBCEL-TECTA,TECTAc.3961A>C (p.Thr1321Pro)
c.1268A>C
n.526A>C
c.4918A>C (p.Thr1640Pro)
11g.121145972A>GCA383022880TBCEL-TECTA,TECTAc.3961A>G (p.Thr1321Ala)
c.1268A>G
n.526A>G
c.4918A>G (p.Thr1640Ala)
11g.121145972A>TCA383022879TBCEL-TECTA,TECTAc.3961A>T (p.Thr1321Ser)
c.1268A>T
n.526A>T
c.4918A>T (p.Thr1640Ser)
11g.121145973C>ACA383022882TBCEL-TECTA,TECTAc.3962C>A (p.Thr1321Asn)
c.1269C>A
n.527C>A
c.4919C>A (p.Thr1640Asn)
11g.121145973C=CA2004737613TBCEL-TECTA,TECTAc.3962C= (p.Thr1321=)
c.1269C=
n.527C=
c.4919C= (p.Thr1640=)
11g.121145973C>GCA383022883TBCEL-TECTA,TECTAc.3962C>G (p.Thr1321Ser)
c.1269C>G
n.527C>G
c.4919C>G (p.Thr1640Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.121145973C>TCA383022884TBCEL-TECTA,TECTAc.3962C>T (p.Thr1321Ile)
c.1269C>T
n.527C>T
c.4919C>T (p.Thr1640Ile)
 dbSNP gnomAD v4
11g.121145974C>ACA6327320TBCEL-TECTA,TECTAc.3963C>A (p.Thr1321=)
c.1270C>A
n.528C>A
c.4920C>A (p.Thr1640=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145974C=CA2004737614TBCEL-TECTA,TECTAc.3963C= (p.Thr1321=)
c.1270C=
n.528C=
c.4920C= (p.Thr1640=)
11g.121145974C>GCA477383132TBCEL-TECTA,TECTAc.3963C>G (p.Thr1321=)
c.1270C>G
n.528C>G
c.4920C>G (p.Thr1640=)
11g.121145974C>TCA477383133TBCEL-TECTA,TECTAc.3963C>T (p.Thr1321=)
c.1270C>T
n.528C>T
c.4920C>T (p.Thr1640=)
11g.121145975T>ACA383022885TBCEL-TECTA,TECTAc.3964T>A (p.Phe1322Ile)
c.1271T>A
n.529T>A
c.4921T>A (p.Phe1641Ile)
11g.121145975T>CCA383022886TBCEL-TECTA,TECTAc.3964T>C (p.Phe1322Leu)
c.1271T>C
n.529T>C
c.4921T>C (p.Phe1641Leu)
11g.121145975T>GCA383022887TBCEL-TECTA,TECTAc.3964T>G (p.Phe1322Val)
c.1271T>G
n.529T>G
c.4921T>G (p.Phe1641Val)
 dbSNP
11g.121145975T=CA2004737615TBCEL-TECTA,TECTAc.3964T= (p.Phe1322=)
c.1271T=
n.529T=
c.4921T= (p.Phe1641=)
11g.121145976T>ACA383022888TBCEL-TECTA,TECTAc.3965T>A (p.Phe1322Tyr)
c.1272T>A
n.530T>A
c.4922T>A (p.Phe1641Tyr)
11g.121145976T>CCA383022889TBCEL-TECTA,TECTAc.3965T>C (p.Phe1322Ser)
c.1272T>C
n.530T>C
c.4922T>C (p.Phe1641Ser)
11g.121145976T>GCA383022890TBCEL-TECTA,TECTAc.3965T>G (p.Phe1322Cys)
c.1272T>G
n.530T>G
c.4922T>G (p.Phe1641Cys)
11g.121145977C>ACA383022891TBCEL-TECTA,TECTAc.3966C>A (p.Phe1322Leu)
c.1273C>A
n.531C>A
c.4923C>A (p.Phe1641Leu)
11g.121145977C>GCA383022892TBCEL-TECTA,TECTAc.3966C>G (p.Phe1322Leu)
c.1273C>G
n.531C>G
c.4923C>G (p.Phe1641Leu)
11g.121145977C>TCA477383134TBCEL-TECTA,TECTAc.3966C>T (p.Phe1322=)
c.1273C>T
n.531C>T
c.4923C>T (p.Phe1641=)
11g.121145978T>ACA383022893TBCEL-TECTA,TECTAc.3967T>A (p.Phe1323Ile)
c.1274T>A
n.532T>A
c.4924T>A (p.Phe1642Ile)
11g.121145978T>CCA383022895TBCEL-TECTA,TECTAc.3967T>C (p.Phe1323Leu)
c.1274T>C
n.532T>C
c.4924T>C (p.Phe1642Leu)
11g.121145978T>GCA383022894TBCEL-TECTA,TECTAc.3967T>G (p.Phe1323Val)
c.1274T>G
n.532T>G
c.4924T>G (p.Phe1642Val)
11g.121145979T>ACA383022896TBCEL-TECTA,TECTAc.3968T>A (p.Phe1323Tyr)
c.1275T>A
n.533T>A
c.4925T>A (p.Phe1642Tyr)
11g.121145979T>CCA383022898TBCEL-TECTA,TECTAc.3968T>C (p.Phe1323Ser)
c.1275T>C
n.533T>C
c.4925T>C (p.Phe1642Ser)
11g.121145979T>GCA383022897TBCEL-TECTA,TECTAc.3968T>G (p.Phe1323Cys)
c.1275T>G
n.533T>G
c.4925T>G (p.Phe1642Cys)
11g.121145980C>ACA383022899TBCEL-TECTA,TECTAc.3969C>A (p.Phe1323Leu)
c.1276C>A
n.534C>A
c.4926C>A (p.Phe1642Leu)
11g.121145980C=CA2004737616TBCEL-TECTA,TECTAc.3969C= (p.Phe1323=)
c.1276C=
n.534C=
c.4926C= (p.Phe1642=)
11g.121145980C>GCA383022900TBCEL-TECTA,TECTAc.3969C>G (p.Phe1323Leu)
c.1276C>G
n.534C>G
c.4926C>G (p.Phe1642Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.121145980C>TCA477383135TBCEL-TECTA,TECTAc.3969C>T (p.Phe1323=)
c.1276C>T
n.534C>T
c.4926C>T (p.Phe1642=)
 dbSNP COSMIC
11g.121145981T>ACA383022901TBCEL-TECTA,TECTAc.3970T>A (p.Tyr1324Asn)
c.1277T>A
n.535T>A
c.4927T>A (p.Tyr1643Asn)
11g.121145981T>CCA383022903TBCEL-TECTA,TECTAc.3970T>C (p.Tyr1324His)
c.1277T>C
n.535T>C
c.4927T>C (p.Tyr1643His)
11g.121145981T>GCA383022902TBCEL-TECTA,TECTAc.3970T>G (p.Tyr1324Asp)
c.1277T>G
n.535T>G
c.4927T>G (p.Tyr1643Asp)
11g.121145981dupCA2575008441TBCEL-TECTA,TECTAc.3970dup (p.Tyr1324LeufsTer2)
c.1277dup
n.535dup
c.4927dup (p.Tyr1643LeufsTer2)
11g.121145982A=CA2004737617TBCEL-TECTA,TECTAc.3971A= (p.Tyr1324=)
c.1278A=
n.536A=
c.4928A= (p.Tyr1643=)
11g.121145982A>CCA383022904TBCEL-TECTA,TECTAc.3971A>C (p.Tyr1324Ser)
c.1278A>C
n.536A>C
c.4928A>C (p.Tyr1643Ser)
 gnomAD v4
11g.121145982A>GCA6327321TBCEL-TECTA,TECTAc.3971A>G (p.Tyr1324Cys)
c.1278A>G
n.536A>G
c.4928A>G (p.Tyr1643Cys)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
11g.121145982A>TCA383022905TBCEL-TECTA,TECTAc.3971A>T (p.Tyr1324Phe)
c.1278A>T
n.536A>T
c.4928A>T (p.Tyr1643Phe)
11g.121145983T>ACA383022906TBCEL-TECTA,TECTAc.3972T>A (p.Tyr1324Ter)
c.1279T>A
n.537T>A
c.4929T>A (p.Tyr1643Ter)
11g.121145983T>CCA477383136TBCEL-TECTA,TECTAc.3972T>C (p.Tyr1324=)
c.1279T>C
n.537T>C
c.4929T>C (p.Tyr1643=)
11g.121145983T>GCA383022907TBCEL-TECTA,TECTAc.3972T>G (p.Tyr1324Ter)
c.1279T>G
n.537T>G
c.4929T>G (p.Tyr1643Ter)
11g.121145984A=CA2004737618TBCEL-TECTA,TECTAc.3973A= (p.Lys1325=)
c.1280A=
n.538A=
c.4930A= (p.Lys1644=)
11g.121145984A>CCA383022908TBCEL-TECTA,TECTAc.3973A>C (p.Lys1325Gln)
c.1280A>C
n.538A>C
c.4930A>C (p.Lys1644Gln)
11g.121145984A>GCA383022909TBCEL-TECTA,TECTAc.3973A>G (p.Lys1325Glu)
c.1280A>G
n.538A>G
c.4930A>G (p.Lys1644Glu)
 dbSNP gnomAD v3 gnomAD v4
11g.121145984A>TCA383022910TBCEL-TECTA,TECTAc.3973A>T (p.Lys1325Ter)
c.1280A>T
n.538A>T
c.4930A>T (p.Lys1644Ter)
11g.121145985A>CCA383022911TBCEL-TECTA,TECTAc.3974A>C (p.Lys1325Thr)
c.1281A>C
n.539A>C
c.4931A>C (p.Lys1644Thr)
11g.121145985A>GCA383022912TBCEL-TECTA,TECTAc.3974A>G (p.Lys1325Arg)
c.1281A>G
n.539A>G
c.4931A>G (p.Lys1644Arg)
 gnomAD v4
11g.121145985A>TCA383022913TBCEL-TECTA,TECTAc.3974A>T (p.Lys1325Met)
c.1281A>T
n.539A>T
c.4931A>T (p.Lys1644Met)
11g.121145986G>ACA6327322TBCEL-TECTA,TECTAc.3975G>A (p.Lys1325=)
c.1282G>A
n.540G>A
c.4932G>A (p.Lys1644=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145986G>CCA383022915TBCEL-TECTA,TECTAc.3975G>C (p.Lys1325Asn)
c.1282G>C
n.540G>C
c.4932G>C (p.Lys1644Asn)
11g.121145986G=CA2004737619TBCEL-TECTA,TECTAc.3975G= (p.Lys1325=)
c.1282G=
n.540G=
c.4932G= (p.Lys1644=)
11g.121145986G>TCA383022914TBCEL-TECTA,TECTAc.3975G>T (p.Lys1325Asn)
c.1282G>T
n.540G>T
c.4932G>T (p.Lys1644Asn)
11g.121145987A>CCA383022916TBCEL-TECTA,TECTAc.3976A>C (p.Asn1326His)
c.1283A>C
n.541A>C
c.4933A>C (p.Asn1645His)
11g.121145987A>GCA383022917TBCEL-TECTA,TECTAc.3976A>G (p.Asn1326Asp)
c.1283A>G
n.541A>G
c.4933A>G (p.Asn1645Asp)
11g.121145987A>TCA383022918TBCEL-TECTA,TECTAc.3976A>T (p.Asn1326Tyr)
c.1283A>T
n.541A>T
c.4933A>T (p.Asn1645Tyr)
11g.121145988A>CCA383022919TBCEL-TECTA,TECTAc.3977A>C (p.Asn1326Thr)
c.1284A>C
n.542A>C
c.4934A>C (p.Asn1645Thr)
11g.121145988A>GCA383022920TBCEL-TECTA,TECTAc.3977A>G (p.Asn1326Ser)
c.1284A>G
n.542A>G
c.4934A>G (p.Asn1645Ser)
11g.121145988A>TCA383022921TBCEL-TECTA,TECTAc.3977A>T (p.Asn1326Ile)
c.1284A>T
n.542A>T
c.4934A>T (p.Asn1645Ile)
11g.121145989C>ACA383022922TBCEL-TECTA,TECTAc.3978C>A (p.Asn1326Lys)
c.1285C>A
n.543C>A
c.4935C>A (p.Asn1645Lys)
11g.121145989C>GCA383022923TBCEL-TECTA,TECTAc.3978C>G (p.Asn1326Lys)
c.1285C>G
n.543C>G
c.4935C>G (p.Asn1645Lys)
11g.121145989C>TCA477383137TBCEL-TECTA,TECTAc.3978C>T (p.Asn1326=)
c.1285C>T
n.543C>T
c.4935C>T (p.Asn1645=)
 gnomAD v4
11g.121145990T>ACA383022924TBCEL-TECTA,TECTAc.3979T>A (p.Cys1327Ser)
c.1286T>A
n.544T>A
c.4936T>A (p.Cys1646Ser)
11g.121145990T>CCA383022925TBCEL-TECTA,TECTAc.3979T>C (p.Cys1327Arg)
c.1286T>C
n.544T>C
c.4936T>C (p.Cys1646Arg)
11g.121145990T>GCA383022926TBCEL-TECTA,TECTAc.3979T>G (p.Cys1327Gly)
c.1286T>G
n.544T>G
c.4936T>G (p.Cys1646Gly)
11g.121145991G>ACA383022929TBCEL-TECTA,TECTAc.3980G>A (p.Cys1327Tyr)
c.1287G>A
n.545G>A
c.4937G>A (p.Cys1646Tyr)
11g.121145991G>CCA383022928TBCEL-TECTA,TECTAc.3980G>C (p.Cys1327Ser)
c.1287G>C
n.545G>C
c.4937G>C (p.Cys1646Ser)
11g.121145991G=CA2004737620TBCEL-TECTA,TECTAc.3980G= (p.Cys1327=)
c.1287G=
n.545G=
c.4937G= (p.Cys1646=)
11g.121145991G>TCA383022927TBCEL-TECTA,TECTAc.3980G>T (p.Cys1327Phe)
c.1287G>T
n.545G>T
c.4937G>T (p.Cys1646Phe)
 dbSNP
11g.121145992C>ACA383022930TBCEL-TECTA,TECTAc.3981C>A (p.Cys1327Ter)
c.1288C>A
n.546C>A
c.4938C>A (p.Cys1646Ter)
11g.121145992C>GCA383022931TBCEL-TECTA,TECTAc.3981C>G (p.Cys1327Trp)
c.1288C>G
n.546C>G
c.4938C>G (p.Cys1646Trp)
11g.121145992C>TCA477383138TBCEL-TECTA,TECTAc.3981C>T (p.Cys1327=)
c.1288C>T
n.546C>T
c.4938C>T (p.Cys1646=)
 COSMIC
11g.121145993C>ACA383022932TBCEL-TECTA,TECTAc.3982C>A (p.Leu1328Met)
c.1289C>A
n.547C>A
c.4939C>A (p.Leu1647Met)
11g.121145993C>GCA383022933TBCEL-TECTA,TECTAc.3982C>G (p.Leu1328Val)
c.1289C>G
n.547C>G
c.4939C>G (p.Leu1647Val)
11g.121145993C>TCA477383139TBCEL-TECTA,TECTAc.3982C>T (p.Leu1328=)
c.1289C>T
n.547C>T
c.4939C>T (p.Leu1647=)
11g.121145994T>ACA383022934TBCEL-TECTA,TECTAc.3983T>A (p.Leu1328Gln)
c.1290T>A
n.548T>A
c.4940T>A (p.Leu1647Gln)
11g.121145994T>CCA383022935TBCEL-TECTA,TECTAc.3983T>C (p.Leu1328Pro)
c.1290T>C
n.548T>C
c.4940T>C (p.Leu1647Pro)
11g.121145994T>GCA383022936TBCEL-TECTA,TECTAc.3983T>G (p.Leu1328Arg)
c.1290T>G
n.548T>G
c.4940T>G (p.Leu1647Arg)
11g.121145995G>ACA477383140TBCEL-TECTA,TECTAc.3984G>A (p.Leu1328=)
c.1291G>A
n.549G>A
c.4941G>A (p.Leu1647=)
11g.121145995G>CCA477383141TBCEL-TECTA,TECTAc.3984G>C (p.Leu1328=)
c.1291G>C
n.549G>C
c.4941G>C (p.Leu1647=)
11g.121145995G>TCA477383142TBCEL-TECTA,TECTAc.3984G>T (p.Leu1328=)
c.1291G>T
n.549G>T
c.4941G>T (p.Leu1647=)
11g.121145996T>ACA383022937TBCEL-TECTA,TECTAc.3985T>A (p.Phe1329Ile)
c.1292T>A
n.550T>A
c.4942T>A (p.Phe1648Ile)
11g.121145996T>CCA383022938TBCEL-TECTA,TECTAc.3985T>C (p.Phe1329Leu)
c.1292T>C
n.550T>C
c.4942T>C (p.Phe1648Leu)
11g.121145996T>GCA383022939TBCEL-TECTA,TECTAc.3985T>G (p.Phe1329Val)
c.1292T>G
n.550T>G
c.4942T>G (p.Phe1648Val)
11g.121145997T>ACA383022940TBCEL-TECTA,TECTAc.3986T>A (p.Phe1329Tyr)
c.1293T>A
n.551T>A
c.4943T>A (p.Phe1648Tyr)
11g.121145997T>CCA383022941TBCEL-TECTA,TECTAc.3986T>C (p.Phe1329Ser)
c.1293T>C
n.551T>C
c.4943T>C (p.Phe1648Ser)
11g.121145997T>GCA383022942TBCEL-TECTA,TECTAc.3986T>G (p.Phe1329Cys)
c.1293T>G
n.551T>G
c.4943T>G (p.Phe1648Cys)
11g.121145998T>ACA383022943TBCEL-TECTA,TECTAc.3987T>A (p.Phe1329Leu)
c.1294T>A
n.552T>A
c.4944T>A (p.Phe1648Leu)
11g.121145998T>CCA477383143TBCEL-TECTA,TECTAc.3987T>C (p.Phe1329=)
c.1294T>C
n.552T>C
c.4944T>C (p.Phe1648=)
11g.121145998T>GCA383022944TBCEL-TECTA,TECTAc.3987T>G (p.Phe1329Leu)
c.1294T>G
n.552T>G
c.4944T>G (p.Phe1648Leu)
11g.121145999G>ACA383022945TBCEL-TECTA,TECTAc.3988G>A (p.Asp1330Asn)
c.1295G>A
n.553G>A
c.4945G>A (p.Asp1649Asn)
11g.121145999G>CCA383022946TBCEL-TECTA,TECTAc.3988G>C (p.Asp1330His)
c.1295G>C
n.553G>C
c.4945G>C (p.Asp1649His)
11g.121145999G>TCA383022947TBCEL-TECTA,TECTAc.3988G>T (p.Asp1330Tyr)
c.1295G>T
n.553G>T
c.4945G>T (p.Asp1649Tyr)
 COSMIC
11g.121146000A=CA2004737621TBCEL-TECTA,TECTAc.3989A= (p.Asp1330=)
c.1296A=
n.554A=
c.4946A= (p.Asp1649=)
11g.121146000A>CCA383022948TBCEL-TECTA,TECTAc.3989A>C (p.Asp1330Ala)
c.1296A>C
n.554A>C
c.4946A>C (p.Asp1649Ala)
 dbSNP
11g.121146000A>GCA383022949TBCEL-TECTA,TECTAc.3989A>G (p.Asp1330Gly)
c.1296A>G
n.554A>G
c.4946A>G (p.Asp1649Gly)
11g.121146000A>TCA6327323TBCEL-TECTA,TECTAc.3989A>T (p.Asp1330Val)
c.1296A>T
n.554A>T
c.4946A>T (p.Asp1649Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121146001C>ACA383022950TBCEL-TECTA,TECTAc.3990C>A (p.Asp1330Glu)
c.1297C>A
n.555C>A
c.4947C>A (p.Asp1649Glu)
11g.121146001C>GCA383022951TBCEL-TECTA,TECTAc.3990C>G (p.Asp1330Glu)
c.1297C>G
n.555C>G
c.4947C>G (p.Asp1649Glu)
11g.121146001C>TCA477383144TBCEL-TECTA,TECTAc.3990C>T (p.Asp1330=)
c.1297C>T
n.555C>T
c.4947C>T (p.Asp1649=)
11g.121146002T>ACA383022952TBCEL-TECTA,TECTAc.3991T>A (p.Ser1331Thr)
c.1298T>A
n.556T>A
c.4948T>A (p.Ser1650Thr)
11g.121146002T>CCA383022953TBCEL-TECTA,TECTAc.3991T>C (p.Ser1331Pro)
c.1298T>C
n.556T>C
c.4948T>C (p.Ser1650Pro)
 dbSNP gnomAD v2 gnomAD v4
11g.121146002T>GCA383022954TBCEL-TECTA,TECTAc.3991T>G (p.Ser1331Ala)
c.1298T>G
n.556T>G
c.4948T>G (p.Ser1650Ala)
 dbSNP gnomAD v3 gnomAD v4
11g.121146002T=CA2004737622TBCEL-TECTA,TECTAc.3991T= (p.Ser1331=)
c.1298T=
n.556T=
c.4948T= (p.Ser1650=)
11g.121146003C>ACA383022957TBCEL-TECTA,TECTAc.3992C>A (p.Ser1331Tyr)
c.1299C>A
n.557C>A
c.4949C>A (p.Ser1650Tyr)
11g.121146003C>GCA383022956TBCEL-TECTA,TECTAc.3992C>G (p.Ser1331Cys)
c.1299C>G
n.557C>G
c.4949C>G (p.Ser1650Cys)
11g.121146003C>TCA383022955TBCEL-TECTA,TECTAc.3992C>T (p.Ser1331Phe)
c.1299C>T
n.557C>T
c.4949C>T (p.Ser1650Phe)
 COSMIC
11g.121146004T>ACA477383147TBCEL-TECTA,TECTAc.3993T>A (p.Ser1331=)
c.1300T>A
n.558T>A
c.4950T>A (p.Ser1650=)
11g.121146004T>CCA477383145TBCEL-TECTA,TECTAc.3993T>C (p.Ser1331=)
c.1300T>C
n.558T>C
c.4950T>C (p.Ser1650=)
11g.121146004T>GCA477383146TBCEL-TECTA,TECTAc.3993T>G (p.Ser1331=)
c.1300T>G
n.558T>G
c.4950T>G (p.Ser1650=)
11g.121146005T>ACA383022958TBCEL-TECTA,TECTAc.3994T>A (p.Cys1332Ser)
c.1301T>A
n.559T>A
c.4951T>A (p.Cys1651Ser)
11g.121146005T>CCA383022960TBCEL-TECTA,TECTAc.3994T>C (p.Cys1332Arg)
c.1301T>C
n.559T>C
c.4951T>C (p.Cys1651Arg)
 gnomAD v4
11g.121146005T>GCA383022959TBCEL-TECTA,TECTAc.3994T>G (p.Cys1332Gly)
c.1301T>G
n.559T>G
c.4951T>G (p.Cys1651Gly)
11g.121146006G>ACA383022961TBCEL-TECTA,TECTAc.3995G>A (p.Cys1332Tyr)
c.1302G>A
n.560G>A
c.4952G>A (p.Cys1651Tyr)
 ClinVar
11g.121146006G>CCA383022962TBCEL-TECTA,TECTAc.3995G>C (p.Cys1332Ser)
c.1302G>C
n.560G>C
c.4952G>C (p.Cys1651Ser)
11g.121146006G>TCA383022963TBCEL-TECTA,TECTAc.3995G>T (p.Cys1332Phe)
c.1302G>T
n.560G>T
c.4952G>T (p.Cys1651Phe)
11g.121146007C>ACA383022964TBCEL-TECTA,TECTAc.3996C>A (p.Cys1332Ter)
c.1303C>A
n.561C>A
c.4953C>A (p.Cys1651Ter)
11g.121146007C>GCA383022965TBCEL-TECTA,TECTAc.3996C>G (p.Cys1332Trp)
c.1303C>G
n.561C>G
c.4953C>G (p.Cys1651Trp)
11g.121146007C>TCA477383148TBCEL-TECTA,TECTAc.3996C>T (p.Cys1332=)
c.1303C>T
n.561C>T
c.4953C>T (p.Cys1651=)
11g.121146008A=CA2004737623TBCEL-TECTA,TECTAc.3997A= (p.Ile1333=)
c.1304A=
n.562A=
c.4954A= (p.Ile1652=)
11g.121146008A>CCA383022966TBCEL-TECTA,TECTAc.3997A>C (p.Ile1333Leu)
c.1304A>C
n.562A>C
c.4954A>C (p.Ile1652Leu)
11g.121146008A>GCA229831782TBCEL-TECTA,TECTAc.3997A>G (p.Ile1333Val)
c.1304A>G
n.562A>G
c.4954A>G (p.Ile1652Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.121146008A>TCA383022967TBCEL-TECTA,TECTAc.3997A>T (p.Ile1333Phe)
c.1304A>T
n.562A>T
c.4954A>T (p.Ile1652Phe)
 gnomAD v4
11g.121146009T>ACA383022968TBCEL-TECTA,TECTAc.3998T>A (p.Ile1333Asn)
c.1305T>A
n.563T>A
c.4955T>A (p.Ile1652Asn)
 gnomAD v4
11g.121146009T>CCA383022969TBCEL-TECTA,TECTAc.3998T>C (p.Ile1333Thr)
c.1305T>C
n.563T>C
c.4955T>C (p.Ile1652Thr)
 dbSNP gnomAD v4
11g.121146009T>GCA383022970TBCEL-TECTA,TECTAc.3998T>G (p.Ile1333Ser)
c.1305T>G
n.563T>G
c.4955T>G (p.Ile1652Ser)
11g.121146009T=CA2004737624TBCEL-TECTA,TECTAc.3998T= (p.Ile1333=)
c.1305T=
n.563T=
c.4955T= (p.Ile1652=)
11g.121146010C>ACA477383149TBCEL-TECTA,TECTAc.3999C>A (p.Ile1333=)
c.1306C>A
n.564C>A
c.4956C>A (p.Ile1652=)
11g.121146010C=CA2004737625TBCEL-TECTA,TECTAc.3999C= (p.Ile1333=)
c.1306C=
n.564C=
c.4956C= (p.Ile1652=)
11g.121146010C>GCA383022971TBCEL-TECTA,TECTAc.3999C>G (p.Ile1333Met)
c.1306C>G
n.564C>G
c.4956C>G (p.Ile1652Met)
11g.121146010C>TCA6327324TBCEL-TECTA,TECTAc.3999C>T (p.Ile1333=)
c.1306C>T
n.564C>T
c.4956C>T (p.Ile1652=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121146011G>ACA6327325TBCEL-TECTA,TECTAc.4000G>A (p.Asp1334Asn)
c.1307G>A
n.565G>A
c.4957G>A (p.Asp1653Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121146011G>CCA383022972TBCEL-TECTA,TECTAc.4000G>C (p.Asp1334His)
c.1307G>C
n.565G>C
c.4957G>C (p.Asp1653His)
11g.121146011G=CA2004737626TBCEL-TECTA,TECTAc.4000G= (p.Asp1334=)
c.1307G=
n.565G=
c.4957G= (p.Asp1653=)
11g.121146011G>TCA383022973TBCEL-TECTA,TECTAc.4000G>T (p.Asp1334Tyr)
c.1307G>T
n.565G>T
c.4957G>T (p.Asp1653Tyr)
 dbSNP gnomAD v2 gnomAD v4
11g.121146012A>CCA383022974TBCEL-TECTA,TECTAc.4001A>C (p.Asp1334Ala)
c.1308A>C
n.566A>C
c.4958A>C (p.Asp1653Ala)
11g.121146012A>GCA383022975TBCEL-TECTA,TECTAc.4001A>G (p.Asp1334Gly)
c.1308A>G
n.566A>G
c.4958A>G (p.Asp1653Gly)
11g.121146012A>TCA383022976TBCEL-TECTA,TECTAc.4001A>T (p.Asp1334Val)
c.1308A>T
n.566A>T
c.4958A>T (p.Asp1653Val)
11g.121146013T>ACA383022977TBCEL-TECTA,TECTAc.4002T>A (p.Asp1334Glu)
c.1309T>A
n.567T>A
c.4959T>A (p.Asp1653Glu)
11g.121146013T>CCA477383150TBCEL-TECTA,TECTAc.4002T>C (p.Asp1334=)
c.1309T>C
n.567T>C
c.4959T>C (p.Asp1653=)
11g.121146013T>GCA383022978TBCEL-TECTA,TECTAc.4002T>G (p.Asp1334Glu)
c.1309T>G
n.567T>G
c.4959T>G (p.Asp1653Glu)
11g.121146014G>ACA383022979TBCEL-TECTA,TECTAc.4003G>A (p.Gly1335Arg)
c.1310G>A
n.568G>A
c.4960G>A (p.Gly1654Arg)
11g.121146014G>CCA383022980TBCEL-TECTA,TECTAc.4003G>C (p.Gly1335Arg)
c.1310G>C
n.568G>C
c.4960G>C (p.Gly1654Arg)
11g.121146014G>TCA383022981TBCEL-TECTA,TECTAc.4003G>T (p.Gly1335Trp)
c.1310G>T
n.568G>T
c.4960G>T (p.Gly1654Trp)
11g.121146018delCA2741214633TBCEL-TECTA,TECTAc.4007del (p.Gly1336AlafsTer24)
c.1314del
n.572del
c.4964del (p.Gly1655AlafsTer24)
11g.121146015G>ACA6327326TBCEL-TECTA,TECTAc.4004G>A (p.Gly1335Glu)
c.1311G>A
n.569G>A
c.4961G>A (p.Gly1654Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121146015G>CCA383022983TBCEL-TECTA,TECTAc.4004G>C (p.Gly1335Ala)
c.1311G>C
n.569G>C
c.4961G>C (p.Gly1654Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121146015G=CA2004737627TBCEL-TECTA,TECTAc.4004G= (p.Gly1335=)
c.1311G=
n.569G=
c.4961G= (p.Gly1654=)
11g.121146015G>TCA383022982TBCEL-TECTA,TECTAc.4004G>T (p.Gly1335Val)
c.1311G>T
n.569G>T
c.4961G>T (p.Gly1654Val)
11g.121146016G>ACA477383151TBCEL-TECTA,TECTAc.4005G>A (p.Gly1335=)
c.1312G>A
n.570G>A
c.4962G>A (p.Gly1654=)
11g.121146016G>CCA477383152TBCEL-TECTA,TECTAc.4005G>C (p.Gly1335=)
c.1312G>C
n.570G>C
c.4962G>C (p.Gly1654=)
11g.121146016G=CA2004737628TBCEL-TECTA,TECTAc.4005G= (p.Gly1335=)
c.1312G=
n.570G=
c.4962G= (p.Gly1654=)
11g.121146016G>TCA477383153TBCEL-TECTA,TECTAc.4005G>T (p.Gly1335=)
c.1312G>T
n.570G>T
c.4962G>T (p.Gly1654=)
 dbSNP gnomAD v2 gnomAD v4
11g.121146017G>ACA383022984TBCEL-TECTA,TECTAc.4006G>A (p.Gly1336Ser)
c.1313G>A
n.571G>A
c.4963G>A (p.Gly1655Ser)
 gnomAD v4
11g.121146017G>CCA383022985TBCEL-TECTA,TECTAc.4006G>C (p.Gly1336Arg)
c.1313G>C
n.571G>C
c.4963G>C (p.Gly1655Arg)
11g.121146017G>TCA383022986TBCEL-TECTA,TECTAc.4006G>T (p.Gly1336Cys)
c.1313G>T
n.571G>T
c.4963G>T (p.Gly1655Cys)
 gnomAD v4
11g.121146018G>ACA6327327TBCEL-TECTA,TECTAc.4007G>A (p.Gly1336Asp)
c.1314G>A
n.572G>A
c.4964G>A (p.Gly1655Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121146018G>CCA383022987TBCEL-TECTA,TECTAc.4007G>C (p.Gly1336Ala)
c.1314G>C
n.572G>C
c.4964G>C (p.Gly1655Ala)
11g.121146018G=CA2004737629TBCEL-TECTA,TECTAc.4007G= (p.Gly1336=)
c.1314G=
n.572G=
c.4964G= (p.Gly1655=)
11g.121146018G>TCA383022988TBCEL-TECTA,TECTAc.4007G>T (p.Gly1336Val)
c.1314G>T
n.572G>T
c.4964G>T (p.Gly1655Val)
11g.121146019C>ACA477383154TBCEL-TECTA,TECTAc.4008C>A (p.Gly1336=)
c.1315C>A
n.573C>A
c.4965C>A (p.Gly1655=)
 gnomAD v4
11g.121146019C=CA2004737630TBCEL-TECTA,TECTAc.4008C= (p.Gly1336=)
c.1315C=
n.573C=
c.4965C= (p.Gly1655=)
11g.121146019C>GCA477383155TBCEL-TECTA,TECTAc.4008C>G (p.Gly1336=)
c.1315C>G
n.573C>G
c.4965C>G (p.Gly1655=)
11g.121146019C>TCA6327328TBCEL-TECTA,TECTAc.4008C>T (p.Gly1336=)
c.1315C>T
n.573C>T
c.4965C>T (p.Gly1655=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.121146020G>ACA6327329TBCEL-TECTA,TECTAc.4009G>A (p.Ala1337Thr)
c.1316G>A
n.574G>A
c.4966G>A (p.Ala1656Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121146020G>CCA383022990TBCEL-TECTA,TECTAc.4009G>C (p.Ala1337Pro)
c.1316G>C
n.574G>C
c.4966G>C (p.Ala1656Pro)
11g.121146020G=CA2004737631TBCEL-TECTA,TECTAc.4009G= (p.Ala1337=)
c.1316G=
n.574G=
c.4966G= (p.Ala1656=)
11g.121146020G>TCA383022989TBCEL-TECTA,TECTAc.4009G>T (p.Ala1337Ser)
c.1316G>T
n.574G>T
c.4966G>T (p.Ala1656Ser)
 gnomAD v4
11g.121146021C>ACA383022991TBCEL-TECTA,TECTAc.4010C>A (p.Ala1337Glu)
c.1317C>A
n.575C>A
c.4967C>A (p.Ala1656Glu)
 gnomAD v4
11g.121146021C=CA2004737632TBCEL-TECTA,TECTAc.4010C= (p.Ala1337=)
c.1317C=
n.575C=
c.4967C= (p.Ala1656=)
11g.121146021C>GCA383022992TBCEL-TECTA,TECTAc.4010C>G (p.Ala1337Gly)
c.1317C>G
n.575C>G
c.4967C>G (p.Ala1656Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.121146021C>TCA6327330TBCEL-TECTA,TECTAc.4010C>T (p.Ala1337Val)
c.1317C>T
n.575C>T
c.4967C>T (p.Ala1656Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched