Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.32082196C>ACA363437632TNXBc.3576G>T (p.Gln1192His)
c.4317G>T (p.Gln1439His)
c.3837G>T (p.Gln1279His)
6g.32082196C>GCA363437638TNXBc.3576G>C (p.Gln1192His)
c.4317G>C (p.Gln1439His)
c.3837G>C (p.Gln1279His)
6g.32082196C>TCA449822883TNXBc.3576G>A (p.Gln1192=)
c.4317G>A (p.Gln1439=)
c.3837G>A (p.Gln1279=)
6g.32082197T>ACA363437669TNXBc.3575A>T (p.Gln1192Leu)
c.4316A>T (p.Gln1439Leu)
c.3836A>T (p.Gln1279Leu)
6g.32082197T>CCA363437659TNXBc.3575A>G (p.Gln1192Arg)
c.4316A>G (p.Gln1439Arg)
c.3836A>G (p.Gln1279Arg)
 gnomAD v4
6g.32082197T>GCA363437652TNXBc.3575A>C (p.Gln1192Pro)
c.4316A>C (p.Gln1439Pro)
c.3836A>C (p.Gln1279Pro)
 gnomAD v4
6g.32082198G>ACA363437678TNXBc.3574C>T (p.Gln1192Ter)
c.4315C>T (p.Gln1439Ter)
c.3835C>T (p.Gln1279Ter)
 dbSNP gnomAD v4 COSMIC COSMIC
6g.32082198G>CCA363437680TNXBc.3574C>G (p.Gln1192Glu)
c.4315C>G (p.Gln1439Glu)
c.3835C>G (p.Gln1279Glu)
6g.32082198G=CA1619416813TNXBc.3574C= (p.Gln1192=)
c.4315C= (p.Gln1439=)
c.3835C= (p.Gln1279=)
6g.32082198G>TCA363437707TNXBc.3574C>A (p.Gln1192Lys)
c.4315C>A (p.Gln1439Lys)
c.3835C>A (p.Gln1279Lys)
6g.32082199G>ACA449822886TNXBc.3573C>T (p.Val1191=)
c.4314C>T (p.Val1438=)
c.3834C>T (p.Val1278=)
6g.32082199G>CCA449822887TNXBc.3573C>G (p.Val1191=)
c.4314C>G (p.Val1438=)
c.3834C>G (p.Val1278=)
6g.32082199G=CA1619416814TNXBc.3573C= (p.Val1191=)
c.4314C= (p.Val1438=)
c.3834C= (p.Val1278=)
6g.32082199G>TCA136896832TNXBc.3573C>A (p.Val1191=)
c.4314C>A (p.Val1438=)
c.3834C>A (p.Val1278=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.32082200A>CCA363437715TNXBc.3572T>G (p.Val1191Gly)
c.4313T>G (p.Val1438Gly)
c.3833T>G (p.Val1278Gly)
6g.32082200A>GCA363437721TNXBc.3572T>C (p.Val1191Ala)
c.4313T>C (p.Val1438Ala)
c.3833T>C (p.Val1278Ala)
6g.32082200A>TCA363437753TNXBc.3572T>A (p.Val1191Asp)
c.4313T>A (p.Val1438Asp)
c.3833T>A (p.Val1278Asp)
6g.32082201C>ACA363437795TNXBc.3571G>T (p.Val1191Phe)
c.4312G>T (p.Val1438Phe)
c.3832G>T (p.Val1278Phe)
 dbSNP gnomAD v2 gnomAD v4
6g.32082201C=CA1619416815TNXBc.3571G= (p.Val1191=)
c.4312G= (p.Val1438=)
c.3832G= (p.Val1278=)
6g.32082201C>GCA363437765TNXBc.3571G>C (p.Val1191Leu)
c.4312G>C (p.Val1438Leu)
c.3832G>C (p.Val1278Leu)
 dbSNP gnomAD v4
6g.32082201C>TCA363437780TNXBc.3571G>A (p.Val1191Ile)
c.4312G>A (p.Val1438Ile)
c.3832G>A (p.Val1278Ile)
 gnomAD v4
6g.32082202C>ACA363437800TNXBc.3570G>T (p.Met1190Ile)
c.4311G>T (p.Met1437Ile)
c.3831G>T (p.Met1277Ile)
6g.32082202C=CA1619416816TNXBc.3570G= (p.Met1190=)
c.4311G= (p.Met1437=)
c.3831G= (p.Met1277=)
6g.32082202C>GCA363437805TNXBc.3570G>C (p.Met1190Ile)
c.4311G>C (p.Met1437Ile)
c.3831G>C (p.Met1277Ile)
6g.32082202C>TCA363437809TNXBc.3570G>A (p.Met1190Ile)
c.4311G>A (p.Met1437Ile)
c.3831G>A (p.Met1277Ile)
6g.32082203A>CCA363437815TNXBc.3569T>G (p.Met1190Arg)
c.4310T>G (p.Met1437Arg)
c.3830T>G (p.Met1277Arg)
6g.32082203A>GCA363437817TNXBc.3569T>C (p.Met1190Thr)
c.4310T>C (p.Met1437Thr)
c.3830T>C (p.Met1277Thr)
6g.32082203A>TCA363437819TNXBc.3569T>A (p.Met1190Lys)
c.4310T>A (p.Met1437Lys)
c.3830T>A (p.Met1277Lys)
6g.32082203dupCA1619416817TNXBc.3569dup (p.Met1190IlefsTer31)
c.4310dup (p.Met1437IlefsTer31)
c.3830dup (p.Met1277IlefsTer31)
 dbSNP
6g.32082204T>ACA363437820TNXBc.3568A>T (p.Met1190Leu)
c.4309A>T (p.Met1437Leu)
c.3829A>T (p.Met1277Leu)
6g.32082204T>CCA3735156TNXBc.3568A>G (p.Met1190Val)
c.4309A>G (p.Met1437Val)
c.3829A>G (p.Met1277Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32082204T>GCA363437825TNXBc.3568A>C (p.Met1190Leu)
c.4309A>C (p.Met1437Leu)
c.3829A>C (p.Met1277Leu)
6g.32082204T=CA1619416818TNXBc.3568A= (p.Met1190=)
c.4309A= (p.Met1437=)
c.3829A= (p.Met1277=)
6g.32082205G>ACA3735157TNXBc.3567C>T (p.Phe1189=)
c.4308C>T (p.Phe1436=)
c.3828C>T (p.Phe1276=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32082205G>CCA363437837TNXBc.3567C>G (p.Phe1189Leu)
c.4308C>G (p.Phe1436Leu)
c.3828C>G (p.Phe1276Leu)
6g.32082205G=CA1619416819TNXBc.3567C= (p.Phe1189=)
c.4308C= (p.Phe1436=)
c.3828C= (p.Phe1276=)
6g.32082205G>TCA363437840TNXBc.3567C>A (p.Phe1189Leu)
c.4308C>A (p.Phe1436Leu)
c.3828C>A (p.Phe1276Leu)
6g.32082206A>CCA363437848TNXBc.3566T>G (p.Phe1189Cys)
c.4307T>G (p.Phe1436Cys)
c.3827T>G (p.Phe1276Cys)
6g.32082206A>GCA363437869TNXBc.3566T>C (p.Phe1189Ser)
c.4307T>C (p.Phe1436Ser)
c.3827T>C (p.Phe1276Ser)
6g.32082206A>TCA363437853TNXBc.3566T>A (p.Phe1189Tyr)
c.4307T>A (p.Phe1436Tyr)
c.3827T>A (p.Phe1276Tyr)
6g.32082207A>CCA363437882TNXBc.3565T>G (p.Phe1189Val)
c.4306T>G (p.Phe1436Val)
c.3826T>G (p.Phe1276Val)
6g.32082207A>GCA363437889TNXBc.3565T>C (p.Phe1189Leu)
c.4306T>C (p.Phe1436Leu)
c.3826T>C (p.Phe1276Leu)
6g.32082207A>TCA363437891TNXBc.3565T>A (p.Phe1189Ile)
c.4306T>A (p.Phe1436Ile)
c.3826T>A (p.Phe1276Ile)
6g.32082208G>ACA136896838TNXBc.3564C>T (p.Thr1188=)
c.4305C>T (p.Thr1435=)
c.3825C>T (p.Thr1275=)
 dbSNP gnomAD v3 gnomAD v4
6g.32082208G>CCA449822896TNXBc.3564C>G (p.Thr1188=)
c.4305C>G (p.Thr1435=)
c.3825C>G (p.Thr1275=)
6g.32082208G=CA1619416820TNXBc.3564C= (p.Thr1188=)
c.4305C= (p.Thr1435=)
c.3825C= (p.Thr1275=)
6g.32082208G>TCA449822899TNXBc.3564C>A (p.Thr1188=)
c.4305C>A (p.Thr1435=)
c.3825C>A (p.Thr1275=)
6g.32082209G>ACA363437910TNXBc.3563C>T (p.Thr1188Ile)
c.4304C>T (p.Thr1435Ile)
c.3824C>T (p.Thr1275Ile)
 dbSNP gnomAD v2 gnomAD v4
6g.32082209G>CCA363437913TNXBc.3563C>G (p.Thr1188Ser)
c.4304C>G (p.Thr1435Ser)
c.3824C>G (p.Thr1275Ser)
6g.32082209G=CA1619416821TNXBc.3563C= (p.Thr1188=)
c.4304C= (p.Thr1435=)
c.3824C= (p.Thr1275=)
6g.32082209G>TCA363437923TNXBc.3563C>A (p.Thr1188Asn)
c.4304C>A (p.Thr1435Asn)
c.3824C>A (p.Thr1275Asn)
 dbSNP
6g.32082210T>ACA363437948TNXBc.3562A>T (p.Thr1188Ser)
c.4303A>T (p.Thr1435Ser)
c.3823A>T (p.Thr1275Ser)
6g.32082210T>CCA363437976TNXBc.3562A>G (p.Thr1188Ala)
c.4303A>G (p.Thr1435Ala)
c.3823A>G (p.Thr1275Ala)
6g.32082210T>GCA363437982TNXBc.3562A>C (p.Thr1188Pro)
c.4303A>C (p.Thr1435Pro)
c.3823A>C (p.Thr1275Pro)
 dbSNP gnomAD v4
6g.32082210T=CA1619416822TNXBc.3562A= (p.Thr1188=)
c.4303A= (p.Thr1435=)
c.3823A= (p.Thr1275=)
6g.32082211G>ACA449822903TNXBc.3561C>T (p.Asp1187=)
c.4302C>T (p.Asp1434=)
c.3822C>T (p.Asp1274=)
6g.32082211G>CCA363437986TNXBc.3561C>G (p.Asp1187Glu)
c.4302C>G (p.Asp1434Glu)
c.3822C>G (p.Asp1274Glu)
6g.32082211G>TCA363437994TNXBc.3561C>A (p.Asp1187Glu)
c.4302C>A (p.Asp1434Glu)
c.3822C>A (p.Asp1274Glu)
6g.32082212T>ACA363438012TNXBc.3560A>T (p.Asp1187Val)
c.4301A>T (p.Asp1434Val)
c.3821A>T (p.Asp1274Val)
6g.32082212T>CCA363438001TNXBc.3560A>G (p.Asp1187Gly)
c.4301A>G (p.Asp1434Gly)
c.3821A>G (p.Asp1274Gly)
6g.32082212T>GCA363438008TNXBc.3560A>C (p.Asp1187Ala)
c.4301A>C (p.Asp1434Ala)
c.3821A>C (p.Asp1274Ala)
6g.32082213C>ACA363438016TNXBc.3559G>T (p.Asp1187Tyr)
c.4300G>T (p.Asp1434Tyr)
c.3820G>T (p.Asp1274Tyr)
6g.32082213C>GCA363438020TNXBc.3559G>C (p.Asp1187His)
c.4300G>C (p.Asp1434His)
c.3820G>C (p.Asp1274His)
6g.32082213C>TCA363438025TNXBc.3559G>A (p.Asp1187Asn)
c.4300G>A (p.Asp1434Asn)
c.3820G>A (p.Asp1274Asn)
6g.32082214A=CA1619416823TNXBc.3558T= (p.Phe1186=)
c.4299T= (p.Phe1433=)
c.3819T= (p.Phe1273=)
6g.32082214A>CCA363438027TNXBc.3558T>G (p.Phe1186Leu)
c.4299T>G (p.Phe1433Leu)
c.3819T>G (p.Phe1273Leu)
 dbSNP gnomAD v3 gnomAD v4
6g.32082214A>GCA449822908TNXBc.3558T>C (p.Phe1186=)
c.4299T>C (p.Phe1433=)
c.3819T>C (p.Phe1273=)
 COSMIC COSMIC
6g.32082214A>TCA363438031TNXBc.3558T>A (p.Phe1186Leu)
c.4299T>A (p.Phe1433Leu)
c.3819T>A (p.Phe1273Leu)
6g.32082215A=CA1619416824TNXBc.3557T= (p.Phe1186=)
c.4298T= (p.Phe1433=)
c.3818T= (p.Phe1273=)
6g.32082215A>CCA136896841TNXBc.3557T>G (p.Phe1186Cys)
c.4298T>G (p.Phe1433Cys)
c.3818T>G (p.Phe1273Cys)
 dbSNP
6g.32082215A>GCA363438057TNXBc.3557T>C (p.Phe1186Ser)
c.4298T>C (p.Phe1433Ser)
c.3818T>C (p.Phe1273Ser)
6g.32082215A>TCA363438061TNXBc.3557T>A (p.Phe1186Tyr)
c.4298T>A (p.Phe1433Tyr)
c.3818T>A (p.Phe1273Tyr)
6g.32082216A>CCA363438071TNXBc.3556T>G (p.Phe1186Val)
c.4297T>G (p.Phe1433Val)
c.3817T>G (p.Phe1273Val)
6g.32082216A>GCA363438075TNXBc.3556T>C (p.Phe1186Leu)
c.4297T>C (p.Phe1433Leu)
c.3817T>C (p.Phe1273Leu)
 COSMIC COSMIC
6g.32082216A>TCA363438081TNXBc.3556T>A (p.Phe1186Ile)
c.4297T>A (p.Phe1433Ile)
c.3817T>A (p.Phe1273Ile)
 gnomAD v4
6g.32082217C>ACA363438090TNXBc.3555G>T (p.Gln1185His)
c.4296G>T (p.Gln1432His)
c.3816G>T (p.Gln1272His)
6g.32082217C>GCA363438100TNXBc.3555G>C (p.Gln1185His)
c.4296G>C (p.Gln1432His)
c.3816G>C (p.Gln1272His)
6g.32082217C>TCA449822913TNXBc.3555G>A (p.Gln1185=)
c.4296G>A (p.Gln1432=)
c.3816G>A (p.Gln1272=)
6g.32082218T>ACA363438107TNXBc.3554A>T (p.Gln1185Leu)
c.4295A>T (p.Gln1432Leu)
c.3815A>T (p.Gln1272Leu)
6g.32082218T>CCA363438110TNXBc.3554A>G (p.Gln1185Arg)
c.4295A>G (p.Gln1432Arg)
c.3815A>G (p.Gln1272Arg)
6g.32082218T>GCA363438119TNXBc.3554A>C (p.Gln1185Pro)
c.4295A>C (p.Gln1432Pro)
c.3815A>C (p.Gln1272Pro)
6g.32082219G>ACA363438123TNXBc.3553C>T (p.Gln1185Ter)
c.4294C>T (p.Gln1432Ter)
c.3814C>T (p.Gln1272Ter)
6g.32082219G>CCA363438126TNXBc.3553C>G (p.Gln1185Glu)
c.4294C>G (p.Gln1432Glu)
c.3814C>G (p.Gln1272Glu)
6g.32082219G>TCA363438131TNXBc.3553C>A (p.Gln1185Lys)
c.4294C>A (p.Gln1432Lys)
c.3814C>A (p.Gln1272Lys)
6g.32082220G>ACA449822917TNXBc.3552C>T (p.Gly1184=)
c.4293C>T (p.Gly1431=)
c.3813C>T (p.Gly1271=)
 dbSNP
6g.32082220G>CCA449822918TNXBc.3552C>G (p.Gly1184=)
c.4293C>G (p.Gly1431=)
c.3813C>G (p.Gly1271=)
6g.32082220G>TCA449822919TNXBc.3552C>A (p.Gly1184=)
c.4293C>A (p.Gly1431=)
c.3813C>A (p.Gly1271=)
6g.32082221C>ACA363438146TNXBc.3551G>T (p.Gly1184Val)
c.4292G>T (p.Gly1431Val)
c.3812G>T (p.Gly1271Val)
6g.32082221C>GCA363438145TNXBc.3551G>C (p.Gly1184Ala)
c.4292G>C (p.Gly1431Ala)
c.3812G>C (p.Gly1271Ala)
6g.32082221C>TCA363438140TNXBc.3551G>A (p.Gly1184Asp)
c.4292G>A (p.Gly1431Asp)
c.3812G>A (p.Gly1271Asp)
6g.32082222C>ACA363438147TNXBc.3550G>T (p.Gly1184Cys)
c.4291G>T (p.Gly1431Cys)
c.3811G>T (p.Gly1271Cys)
6g.32082222C>GCA363438148TNXBc.3550G>C (p.Gly1184Arg)
c.4291G>C (p.Gly1431Arg)
c.3811G>C (p.Gly1271Arg)
6g.32082222C>TCA363438149TNXBc.3550G>A (p.Gly1184Ser)
c.4291G>A (p.Gly1431Ser)
c.3811G>A (p.Gly1271Ser)
6g.32082223C>ACA363438179TNXBc.3549G>T (p.Glu1183Asp)
c.4290G>T (p.Glu1430Asp)
c.3810G>T (p.Glu1270Asp)
6g.32082223C=CA1619416825TNXBc.3549G= (p.Glu1183=)
c.4290G= (p.Glu1430=)
c.3810G= (p.Glu1270=)
6g.32082223C>GCA136896844TNXBc.3549G>C (p.Glu1183Asp)
c.4290G>C (p.Glu1430Asp)
c.3810G>C (p.Glu1270Asp)
 dbSNP
6g.32082223C>TCA3735158TNXBc.3549G>A (p.Glu1183=)
c.4290G>A (p.Glu1430=)
c.3810G>A (p.Glu1270=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32082224T>ACA363438195TNXBc.3548A>T (p.Glu1183Val)
c.4289A>T (p.Glu1430Val)
c.3809A>T (p.Glu1270Val)
6g.32082224T>CCA363438214TNXBc.3548A>G (p.Glu1183Gly)
c.4289A>G (p.Glu1430Gly)
c.3809A>G (p.Glu1270Gly)
6g.32082224T>GCA363438198TNXBc.3548A>C (p.Glu1183Ala)
c.4289A>C (p.Glu1430Ala)
c.3809A>C (p.Glu1270Ala)
 gnomAD v4
6g.32082225C>ACA363438219TNXBc.3547G>T (p.Glu1183Ter)
c.4288G>T (p.Glu1430Ter)
c.3808G>T (p.Glu1270Ter)
6g.32082225C=CA1619416826TNXBc.3547G= (p.Glu1183=)
c.4288G= (p.Glu1430=)
c.3808G= (p.Glu1270=)
6g.32082225C>GCA363438224TNXBc.3547G>C (p.Glu1183Gln)
c.4288G>C (p.Glu1430Gln)
c.3808G>C (p.Glu1270Gln)
6g.32082225C>TCA3735159TNXBc.3547G>A (p.Glu1183Lys)
c.4288G>A (p.Glu1430Lys)
c.3808G>A (p.Glu1270Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32082226A>CCA449822923TNXBc.3546T>G (p.Pro1182=)
c.4287T>G (p.Pro1429=)
c.3807T>G (p.Pro1269=)
6g.32082226A>GCA449822924TNXBc.3546T>C (p.Pro1182=)
c.4287T>C (p.Pro1429=)
c.3807T>C (p.Pro1269=)
6g.32082226A>TCA449822926TNXBc.3546T>A (p.Pro1182=)
c.4287T>A (p.Pro1429=)
c.3807T>A (p.Pro1269=)
6g.32082227G>ACA363438226TNXBc.3545C>T (p.Pro1182Leu)
c.4286C>T (p.Pro1429Leu)
c.3806C>T (p.Pro1269Leu)
6g.32082227G>CCA363438227TNXBc.3545C>G (p.Pro1182Arg)
c.4286C>G (p.Pro1429Arg)
c.3806C>G (p.Pro1269Arg)
6g.32082227G>TCA363438228TNXBc.3545C>A (p.Pro1182His)
c.4286C>A (p.Pro1429His)
c.3806C>A (p.Pro1269His)
6g.32082228G>ACA3735160TNXBc.3544C>T (p.Pro1182Ser)
c.4285C>T (p.Pro1429Ser)
c.3805C>T (p.Pro1269Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.32082228G>CCA363438243TNXBc.3544C>G (p.Pro1182Ala)
c.4285C>G (p.Pro1429Ala)
c.3805C>G (p.Pro1269Ala)
6g.32082228G=CA1619416827TNXBc.3544C= (p.Pro1182=)
c.4285C= (p.Pro1429=)
c.3805C= (p.Pro1269=)
6g.32082228G>TCA363438247TNXBc.3544C>A (p.Pro1182Thr)
c.4285C>A (p.Pro1429Thr)
c.3805C>A (p.Pro1269Thr)
6g.32082229G>ACA449822930TNXBc.3543C>T (p.Val1181=)
c.4284C>T (p.Val1428=)
c.3804C>T (p.Val1268=)
 gnomAD v4
6g.32082229G>CCA449822928TNXBc.3543C>G (p.Val1181=)
c.4284C>G (p.Val1428=)
c.3804C>G (p.Val1268=)
 ClinVar gnomAD v4
6g.32082229G>TCA449822929TNXBc.3543C>A (p.Val1181=)
c.4284C>A (p.Val1428=)
c.3804C>A (p.Val1268=)
6g.32082230A>CCA363438251TNXBc.3542T>G (p.Val1181Gly)
c.4283T>G (p.Val1428Gly)
c.3803T>G (p.Val1268Gly)
6g.32082230A>GCA363438255TNXBc.3542T>C (p.Val1181Ala)
c.4283T>C (p.Val1428Ala)
c.3803T>C (p.Val1268Ala)
6g.32082230A>TCA363438260TNXBc.3542T>A (p.Val1181Asp)
c.4283T>A (p.Val1428Asp)
c.3803T>A (p.Val1268Asp)
6g.32082231C>ACA363438264TNXBc.3541G>T (p.Val1181Phe)
c.4282G>T (p.Val1428Phe)
c.3802G>T (p.Val1268Phe)
6g.32082231C=CA1619416828TNXBc.3541G= (p.Val1181=)
c.4282G= (p.Val1428=)
c.3802G= (p.Val1268=)
6g.32082231C>GCA363438272TNXBc.3541G>C (p.Val1181Leu)
c.4282G>C (p.Val1428Leu)
c.3802G>C (p.Val1268Leu)
6g.32082231C>TCA363438268TNXBc.3541G>A (p.Val1181Ile)
c.4282G>A (p.Val1428Ile)
c.3802G>A (p.Val1268Ile)
 dbSNP gnomAD v4
6g.32082232delCA2678098019TNXBc.3540del (p.Val1181SerfsTer?)
c.4281del (p.Val1428SerfsTer?)
c.3801del (p.Val1268SerfsTer?)
 gnomAD v4
6g.32082232A>CCA449822932TNXBc.3540T>G (p.Thr1180=)
c.4281T>G (p.Thr1427=)
c.3801T>G (p.Thr1267=)
 gnomAD v4
6g.32082232A>GCA449822933TNXBc.3540T>C (p.Thr1180=)
c.4281T>C (p.Thr1427=)
c.3801T>C (p.Thr1267=)
6g.32082232A>TCA449822935TNXBc.3540T>A (p.Thr1180=)
c.4281T>A (p.Thr1427=)
c.3801T>A (p.Thr1267=)
6g.32082233G>ACA363438274TNXBc.3539C>T (p.Thr1180Ile)
c.4280C>T (p.Thr1427Ile)
c.3800C>T (p.Thr1267Ile)
6g.32082233G>CCA363438280TNXBc.3539C>G (p.Thr1180Ser)
c.4280C>G (p.Thr1427Ser)
c.3800C>G (p.Thr1267Ser)
6g.32082233G>TCA363438289TNXBc.3539C>A (p.Thr1180Asn)
c.4280C>A (p.Thr1427Asn)
c.3800C>A (p.Thr1267Asn)
6g.32082234T>ACA363438299TNXBc.3538A>T (p.Thr1180Ser)
c.4279A>T (p.Thr1427Ser)
c.3799A>T (p.Thr1267Ser)
 dbSNP
6g.32082234T>CCA363438301TNXBc.3538A>G (p.Thr1180Ala)
c.4279A>G (p.Thr1427Ala)
c.3799A>G (p.Thr1267Ala)
6g.32082234T>GCA363438303TNXBc.3538A>C (p.Thr1180Pro)
c.4279A>C (p.Thr1427Pro)
c.3799A>C (p.Thr1267Pro)
6g.32082235C>ACA363438305TNXBc.3537G>T (p.Trp1179Cys)
c.4278G>T (p.Trp1426Cys)
c.3798G>T (p.Trp1266Cys)
6g.32082235C=CA1619416829TNXBc.3537G= (p.Trp1179=)
c.4278G= (p.Trp1426=)
c.3798G= (p.Trp1266=)
6g.32082235C>GCA3735161TNXBc.3537G>C (p.Trp1179Cys)
c.4278G>C (p.Trp1426Cys)
c.3798G>C (p.Trp1266Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.32082235C>TCA363438320TNXBc.3537G>A (p.Trp1179Ter)
c.4278G>A (p.Trp1426Ter)
c.3798G>A (p.Trp1266Ter)
6g.32082236C>ACA363438325TNXBc.3536G>T (p.Trp1179Leu)
c.4277G>T (p.Trp1426Leu)
c.3797G>T (p.Trp1266Leu)
6g.32082236C>GCA363438327TNXBc.3536G>C (p.Trp1179Ser)
c.4277G>C (p.Trp1426Ser)
c.3797G>C (p.Trp1266Ser)
6g.32082236C>TCA363438334TNXBc.3536G>A (p.Trp1179Ter)
c.4277G>A (p.Trp1426Ter)
c.3797G>A (p.Trp1266Ter)
6g.32082237A>CCA363438362TNXBc.3535T>G (p.Trp1179Gly)
c.4276T>G (p.Trp1426Gly)
c.3796T>G (p.Trp1266Gly)
6g.32082237A>GCA363438343TNXBc.3535T>C (p.Trp1179Arg)
c.4276T>C (p.Trp1426Arg)
c.3796T>C (p.Trp1266Arg)
6g.32082237A>TCA363438360TNXBc.3535T>A (p.Trp1179Arg)
c.4276T>A (p.Trp1426Arg)
c.3796T>A (p.Trp1266Arg)
6g.32082238G>ACA449822944TNXBc.3534C>T (p.Ser1178=)
c.4275C>T (p.Ser1425=)
c.3795C>T (p.Ser1265=)
 gnomAD v4
6g.32082238G>CCA449822945TNXBc.3534C>G (p.Ser1178=)
c.4275C>G (p.Ser1425=)
c.3795C>G (p.Ser1265=)
6g.32082238G>TCA449822946TNXBc.3534C>A (p.Ser1178=)
c.4275C>A (p.Ser1425=)
c.3795C>A (p.Ser1265=)
6g.32082239G>ACA363438364TNXBc.3533C>T (p.Ser1178Phe)
c.4274C>T (p.Ser1425Phe)
c.3794C>T (p.Ser1265Phe)
6g.32082239G>CCA363438369TNXBc.3533C>G (p.Ser1178Cys)
c.4274C>G (p.Ser1425Cys)
c.3794C>G (p.Ser1265Cys)
 dbSNP
6g.32082239G=CA1619416830TNXBc.3533C= (p.Ser1178=)
c.4274C= (p.Ser1425=)
c.3794C= (p.Ser1265=)
6g.32082239G>TCA363438374TNXBc.3533C>A (p.Ser1178Tyr)
c.4274C>A (p.Ser1425Tyr)
c.3794C>A (p.Ser1265Tyr)
 gnomAD v4
6g.32082240A>CCA363438375TNXBc.3532T>G (p.Ser1178Ala)
c.4273T>G (p.Ser1425Ala)
c.3793T>G (p.Ser1265Ala)
6g.32082240A>GCA363438378TNXBc.3532T>C (p.Ser1178Pro)
c.4273T>C (p.Ser1425Pro)
c.3793T>C (p.Ser1265Pro)
6g.32082240A>TCA363438382TNXBc.3532T>A (p.Ser1178Thr)
c.4273T>A (p.Ser1425Thr)
c.3793T>A (p.Ser1265Thr)
 gnomAD v4
6g.32082241G>ACA449822949TNXBc.3531C>T (p.Leu1177=)
c.4272C>T (p.Leu1424=)
c.3792C>T (p.Leu1264=)
6g.32082241G>CCA449822950TNXBc.3531C>G (p.Leu1177=)
c.4272C>G (p.Leu1424=)
c.3792C>G (p.Leu1264=)
6g.32082241G>TCA449822951TNXBc.3531C>A (p.Leu1177=)
c.4272C>A (p.Leu1424=)
c.3792C>A (p.Leu1264=)
6g.32082242A=CA1619416831TNXBc.3530T= (p.Leu1177=)
c.4271T= (p.Leu1424=)
c.3791T= (p.Leu1264=)
6g.32082242A>CCA363438386TNXBc.3530T>G (p.Leu1177Arg)
c.4271T>G (p.Leu1424Arg)
c.3791T>G (p.Leu1264Arg)
 dbSNP gnomAD v2
6g.32082242A>GCA363438388TNXBc.3530T>C (p.Leu1177Pro)
c.4271T>C (p.Leu1424Pro)
c.3791T>C (p.Leu1264Pro)
6g.32082242A>TCA363438389TNXBc.3530T>A (p.Leu1177His)
c.4271T>A (p.Leu1424His)
c.3791T>A (p.Leu1264His)
6g.32082243G>ACA363438390TNXBc.3529C>T (p.Leu1177Phe)
c.4270C>T (p.Leu1424Phe)
c.3790C>T (p.Leu1264Phe)
 dbSNP gnomAD v2 gnomAD v4
6g.32082243G>CCA363438391TNXBc.3529C>G (p.Leu1177Val)
c.4270C>G (p.Leu1424Val)
c.3790C>G (p.Leu1264Val)
6g.32082243G=CA1619416832TNXBc.3529C= (p.Leu1177=)
c.4270C= (p.Leu1424=)
c.3790C= (p.Leu1264=)
6g.32082243G>TCA363438392TNXBc.3529C>A (p.Leu1177Ile)
c.4270C>A (p.Leu1424Ile)
c.3790C>A (p.Leu1264Ile)
 dbSNP gnomAD v2
6g.32082244G>ACA449822953TNXBc.3528C>T (p.His1176=)
c.4269C>T (p.His1423=)
c.3789C>T (p.His1263=)
 dbSNP gnomAD v2 gnomAD v4
6g.32082244G>CCA363438397TNXBc.3528C>G (p.His1176Gln)
c.4269C>G (p.His1423Gln)
c.3789C>G (p.His1263Gln)
6g.32082244G=CA1619416833TNXBc.3528C= (p.His1176=)
c.4269C= (p.His1423=)
c.3789C= (p.His1263=)
6g.32082244G>TCA363438394TNXBc.3528C>A (p.His1176Gln)
c.4269C>A (p.His1423Gln)
c.3789C>A (p.His1263Gln)
6g.32082245T>ACA363438405TNXBc.3527A>T (p.His1176Leu)
c.4268A>T (p.His1423Leu)
c.3788A>T (p.His1263Leu)
6g.32082245T>CCA363438423TNXBc.3527A>G (p.His1176Arg)
c.4268A>G (p.His1423Arg)
c.3788A>G (p.His1263Arg)
6g.32082245T>GCA363438414TNXBc.3527A>C (p.His1176Pro)
c.4268A>C (p.His1423Pro)
c.3788A>C (p.His1263Pro)
6g.32082246G>ACA363438428TNXBc.3526C>T (p.His1176Tyr)
c.4267C>T (p.His1423Tyr)
c.3787C>T (p.His1263Tyr)
 dbSNP gnomAD v3 gnomAD v4
6g.32082246G>CCA363438440TNXBc.3526C>G (p.His1176Asp)
c.4267C>G (p.His1423Asp)
c.3787C>G (p.His1263Asp)
6g.32082246G=CA1619416834TNXBc.3526C= (p.His1176=)
c.4267C= (p.His1423=)
c.3787C= (p.His1263=)
6g.32082246G>TCA363438444TNXBc.3526C>A (p.His1176Asn)
c.4267C>A (p.His1423Asn)
c.3787C>A (p.His1263Asn)
6g.32082247C>ACA449822957TNXBc.3525G>T (p.Leu1175=)
c.4266G>T (p.Leu1422=)
c.3786G>T (p.Leu1262=)
6g.32082247C>GCA449822958TNXBc.3525G>C (p.Leu1175=)
c.4266G>C (p.Leu1422=)
c.3786G>C (p.Leu1262=)
6g.32082247C>TCA449822959TNXBc.3525G>A (p.Leu1175=)
c.4266G>A (p.Leu1422=)
c.3786G>A (p.Leu1262=)
 gnomAD v4
6g.32082248A>CCA363438454TNXBc.3524T>G (p.Leu1175Arg)
c.4265T>G (p.Leu1422Arg)
c.3785T>G (p.Leu1262Arg)
6g.32082248A>GCA363438458TNXBc.3524T>C (p.Leu1175Pro)
c.4265T>C (p.Leu1422Pro)
c.3785T>C (p.Leu1262Pro)
6g.32082248A>TCA363438459TNXBc.3524T>A (p.Leu1175Gln)
c.4265T>A (p.Leu1422Gln)
c.3785T>A (p.Leu1262Gln)
6g.32082249G>ACA449822961TNXBc.3523C>T (p.Leu1175=)
c.4264C>T (p.Leu1422=)
c.3784C>T (p.Leu1262=)
6g.32082249G>CCA363438464TNXBc.3523C>G (p.Leu1175Val)
c.4264C>G (p.Leu1422Val)
c.3784C>G (p.Leu1262Val)
6g.32082249G>TCA363438467TNXBc.3523C>A (p.Leu1175Met)
c.4264C>A (p.Leu1422Met)
c.3784C>A (p.Leu1262Met)
6g.32082250T>ACA449822964TNXBc.3522A>T (p.Ser1174=)
c.4263A>T (p.Ser1421=)
c.3783A>T (p.Ser1261=)
6g.32082250T>CCA449822965TNXBc.3522A>G (p.Ser1174=)
c.4263A>G (p.Ser1421=)
c.3783A>G (p.Ser1261=)
 gnomAD v4
6g.32082250T>GCA449822963TNXBc.3522A>C (p.Ser1174=)
c.4263A>C (p.Ser1421=)
c.3783A>C (p.Ser1261=)
6g.32082251G>ACA363438469TNXBc.3521C>T (p.Ser1174Leu)
c.4262C>T (p.Ser1421Leu)
c.3782C>T (p.Ser1261Leu)
6g.32082251G>CCA363438475TNXBc.3521C>G (p.Ser1174Ter)
c.4262C>G (p.Ser1421Ter)
c.3782C>G (p.Ser1261Ter)
6g.32082251G=CA1619416835TNXBc.3521C= (p.Ser1174=)
c.4262C= (p.Ser1421=)
c.3782C= (p.Ser1261=)
6g.32082251G>TCA363438478TNXBc.3521C>A (p.Ser1174Ter)
c.4262C>A (p.Ser1421Ter)
c.3782C>A (p.Ser1261Ter)
6g.32082252A>CCA363438523TNXBc.3520T>G (p.Ser1174Ala)
c.4261T>G (p.Ser1421Ala)
c.3781T>G (p.Ser1261Ala)
6g.32082252A>GCA363438493TNXBc.3520T>C (p.Ser1174Pro)
c.4261T>C (p.Ser1421Pro)
c.3781T>C (p.Ser1261Pro)
6g.32082252A>TCA363438507TNXBc.3520T>A (p.Ser1174Thr)
c.4261T>A (p.Ser1421Thr)
c.3781T>A (p.Ser1261Thr)
6g.32082253dupCA3735162TNXBc.3520dup (p.Ser1174PhefsTer10)
c.4261dup (p.Ser1421PhefsTer10)
c.3781dup (p.Ser1261PhefsTer10)
 dbSNP ExAC gnomAD v2
6g.32082253A>CCA363438535TNXBc.3519T>G (p.Asp1173Glu)
c.4260T>G (p.Asp1420Glu)
c.3780T>G (p.Asp1260Glu)
6g.32082253A>GCA449822972TNXBc.3519T>C (p.Asp1173=)
c.4260T>C (p.Asp1420=)
c.3780T>C (p.Asp1260=)
6g.32082253A>TCA363438539TNXBc.3519T>A (p.Asp1173Glu)
c.4260T>A (p.Asp1420Glu)
c.3780T>A (p.Asp1260Glu)
6g.32082254T>ACA363438555TNXBc.3518A>T (p.Asp1173Val)
c.4259A>T (p.Asp1420Val)
c.3779A>T (p.Asp1260Val)
6g.32082254T>CCA363438556TNXBc.3518A>G (p.Asp1173Gly)
c.4259A>G (p.Asp1420Gly)
c.3779A>G (p.Asp1260Gly)
6g.32082254T>GCA363438557TNXBc.3518A>C (p.Asp1173Ala)
c.4259A>C (p.Asp1420Ala)
c.3779A>C (p.Asp1260Ala)
6g.32082255C>ACA363438558TNXBc.3517G>T (p.Asp1173Tyr)
c.4258G>T (p.Asp1420Tyr)
c.3778G>T (p.Asp1260Tyr)
6g.32082255C=CA1619416836TNXBc.3517G= (p.Asp1173=)
c.4258G= (p.Asp1420=)
c.3778G= (p.Asp1260=)
6g.32082255C>GCA363438559TNXBc.3517G>C (p.Asp1173His)
c.4258G>C (p.Asp1420His)
c.3778G>C (p.Asp1260His)
6g.32082255C>TCA3735163TNXBc.3517G>A (p.Asp1173Asn)
c.4258G>A (p.Asp1420Asn)
c.3778G>A (p.Asp1260Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32082256T>ACA449822976TNXBc.3516A>T (p.Pro1172=)
c.4257A>T (p.Pro1419=)
c.3777A>T (p.Pro1259=)
6g.32082256T>CCA449822978TNXBc.3516A>G (p.Pro1172=)
c.4257A>G (p.Pro1419=)
c.3777A>G (p.Pro1259=)
 dbSNP gnomAD v2
6g.32082256T>GCA449822977TNXBc.3516A>C (p.Pro1172=)
c.4257A>C (p.Pro1419=)
c.3777A>C (p.Pro1259=)
6g.32082256T=CA1619416837TNXBc.3516A= (p.Pro1172=)
c.4257A= (p.Pro1419=)
c.3777A= (p.Pro1259=)
6g.32082257G>ACA363438565TNXBc.3515C>T (p.Pro1172Leu)
c.4256C>T (p.Pro1419Leu)
c.3776C>T (p.Pro1259Leu)
6g.32082257G>CCA363438568TNXBc.3515C>G (p.Pro1172Arg)
c.4256C>G (p.Pro1419Arg)
c.3776C>G (p.Pro1259Arg)
6g.32082257G>TCA363438569TNXBc.3515C>A (p.Pro1172Gln)
c.4256C>A (p.Pro1419Gln)
c.3776C>A (p.Pro1259Gln)
6g.32082258G>ACA363438572TNXBc.3514C>T (p.Pro1172Ser)
c.4255C>T (p.Pro1419Ser)
c.3775C>T (p.Pro1259Ser)
6g.32082258G>CCA363438571TNXBc.3514C>G (p.Pro1172Ala)
c.4255C>G (p.Pro1419Ala)
c.3775C>G (p.Pro1259Ala)
6g.32082258G=CA1619416838TNXBc.3514C= (p.Pro1172=)
c.4255C= (p.Pro1419=)
c.3775C= (p.Pro1259=)
6g.32082258G>TCA363438570TNXBc.3514C>A (p.Pro1172Thr)
c.4255C>A (p.Pro1419Thr)
c.3775C>A (p.Pro1259Thr)
 dbSNP gnomAD v2 gnomAD v4
6g.32082259G>ACA449822983TNXBc.3513C>T (p.Thr1171=)
c.4254C>T (p.Thr1418=)
c.3774C>T (p.Thr1258=)
 gnomAD v4
6g.32082259G>CCA3735164TNXBc.3513C>G (p.Thr1171=)
c.4254C>G (p.Thr1418=)
c.3774C>G (p.Thr1258=)
 dbSNP ExAC gnomAD v2
6g.32082259G=CA1619416839TNXBc.3513C= (p.Thr1171=)
c.4254C= (p.Thr1418=)
c.3774C= (p.Thr1258=)
6g.32082259G>TCA449822984TNXBc.3513C>A (p.Thr1171=)
c.4254C>A (p.Thr1418=)
c.3774C>A (p.Thr1258=)
6g.32082260G>ACA363438615TNXBc.3512C>T (p.Thr1171Ile)
c.4253C>T (p.Thr1418Ile)
c.3773C>T (p.Thr1258Ile)
 gnomAD v3 gnomAD v4
6g.32082260G>CCA363438630TNXBc.3512C>G (p.Thr1171Ser)
c.4253C>G (p.Thr1418Ser)
c.3773C>G (p.Thr1258Ser)
6g.32082260G=CA1619416840TNXBc.3512C= (p.Thr1171=)
c.4253C= (p.Thr1418=)
c.3773C= (p.Thr1258=)
6g.32082260G>TCA363438637TNXBc.3512C>A (p.Thr1171Asn)
c.4253C>A (p.Thr1418Asn)
c.3773C>A (p.Thr1258Asn)
 dbSNP gnomAD v4
6g.32082261T>ACA363438642TNXBc.3511A>T (p.Thr1171Ser)
c.4252A>T (p.Thr1418Ser)
c.3772A>T (p.Thr1258Ser)
 gnomAD v4
6g.32082261T>CCA363438645TNXBc.3511A>G (p.Thr1171Ala)
c.4252A>G (p.Thr1418Ala)
c.3772A>G (p.Thr1258Ala)
6g.32082261T>GCA363438647TNXBc.3511A>C (p.Thr1171Pro)
c.4252A>C (p.Thr1418Pro)
c.3772A>C (p.Thr1258Pro)
 gnomAD v4
6g.32082262A>CCA449822989TNXBc.3510T>G (p.Pro1170=)
c.4251T>G (p.Pro1417=)
c.3771T>G (p.Pro1257=)
6g.32082262A>GCA449822990TNXBc.3510T>C (p.Pro1170=)
c.4251T>C (p.Pro1417=)
c.3771T>C (p.Pro1257=)
6g.32082262A>TCA449822991TNXBc.3510T>A (p.Pro1170=)
c.4251T>A (p.Pro1417=)
c.3771T>A (p.Pro1257=)
6g.32082263G>ACA363438666TNXBc.3509C>T (p.Pro1170Leu)
c.4250C>T (p.Pro1417Leu)
c.3770C>T (p.Pro1257Leu)
6g.32082263G>CCA363438651TNXBc.3509C>G (p.Pro1170Arg)
c.4250C>G (p.Pro1417Arg)
c.3770C>G (p.Pro1257Arg)
6g.32082263G>TCA363438662TNXBc.3509C>A (p.Pro1170His)
c.4250C>A (p.Pro1417His)
c.3770C>A (p.Pro1257His)
6g.32082264G>ACA363438676TNXBc.3508C>T (p.Pro1170Ser)
c.4249C>T (p.Pro1417Ser)
c.3769C>T (p.Pro1257Ser)
6g.32082264G>CCA363438719TNXBc.3508C>G (p.Pro1170Ala)
c.4249C>G (p.Pro1417Ala)
c.3769C>G (p.Pro1257Ala)
6g.32082264G>TCA363438720TNXBc.3508C>A (p.Pro1170Thr)
c.4249C>A (p.Pro1417Thr)
c.3769C>A (p.Pro1257Thr)
6g.32082265G>ACA449822996TNXBc.3507C>T (p.Asp1169=)
c.4248C>T (p.Asp1416=)
c.3768C>T (p.Asp1256=)
6g.32082265G>CCA363438722TNXBc.3507C>G (p.Asp1169Glu)
c.4248C>G (p.Asp1416Glu)
c.3768C>G (p.Asp1256Glu)
6g.32082265G=CA1619416841TNXBc.3507C= (p.Asp1169=)
c.4248C= (p.Asp1416=)
c.3768C= (p.Asp1256=)
6g.32082265G>TCA3735165TNXBc.3507C>A (p.Asp1169Glu)
c.4248C>A (p.Asp1416Glu)
c.3768C>A (p.Asp1256Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32082266T>ACA363438735TNXBc.3506A>T (p.Asp1169Val)
c.4247A>T (p.Asp1416Val)
c.3767A>T (p.Asp1256Val)
6g.32082266T>CCA363438741TNXBc.3506A>G (p.Asp1169Gly)
c.4247A>G (p.Asp1416Gly)
c.3767A>G (p.Asp1256Gly)
 gnomAD v4
6g.32082266T>GCA363438738TNXBc.3506A>C (p.Asp1169Ala)
c.4247A>C (p.Asp1416Ala)
c.3767A>C (p.Asp1256Ala)
 dbSNP
6g.32082267C>ACA363438750TNXBc.3505G>T (p.Asp1169Tyr)
c.4246G>T (p.Asp1416Tyr)
c.3766G>T (p.Asp1256Tyr)
6g.32082267C>GCA363438752TNXBc.3505G>C (p.Asp1169His)
c.4246G>C (p.Asp1416His)
c.3766G>C (p.Asp1256His)
6g.32082267C>TCA363438756TNXBc.3505G>A (p.Asp1169Asn)
c.4246G>A (p.Asp1416Asn)
c.3766G>A (p.Asp1256Asn)
6g.32082268T>ACA449823000TNXBc.3504A>T (p.Thr1168=)
c.4245A>T (p.Thr1415=)
c.3765A>T (p.Thr1255=)
6g.32082268T>CCA449822999TNXBc.3504A>G (p.Thr1168=)
c.4245A>G (p.Thr1415=)
c.3765A>G (p.Thr1255=)
6g.32082268T>GCA449822998TNXBc.3504A>C (p.Thr1168=)
c.4245A>C (p.Thr1415=)
c.3765A>C (p.Thr1255=)
6g.32082269G>ACA363438764TNXBc.3503C>T (p.Thr1168Ile)
c.4244C>T (p.Thr1415Ile)
c.3764C>T (p.Thr1255Ile)
6g.32082269G>CCA363438766TNXBc.3503C>G (p.Thr1168Arg)
c.4244C>G (p.Thr1415Arg)
c.3764C>G (p.Thr1255Arg)
 gnomAD v4
6g.32082269G>TCA363438770TNXBc.3503C>A (p.Thr1168Lys)
c.4244C>A (p.Thr1415Lys)
c.3764C>A (p.Thr1255Lys)
6g.32082270T>ACA363438803TNXBc.3502A>T (p.Thr1168Ser)
c.4243A>T (p.Thr1415Ser)
c.3763A>T (p.Thr1255Ser)
6g.32082270T>CCA363438807TNXBc.3502A>G (p.Thr1168Ala)
c.4243A>G (p.Thr1415Ala)
c.3763A>G (p.Thr1255Ala)
6g.32082270T>GCA363438809TNXBc.3502A>C (p.Thr1168Pro)
c.4243A>C (p.Thr1415Pro)
c.3763A>C (p.Thr1255Pro)
 dbSNP
6g.32082271C>ACA449823002TNXBc.3501G>T (p.Val1167=)
c.4242G>T (p.Val1414=)
c.3762G>T (p.Val1254=)
 gnomAD v4
6g.32082271C>GCA449823004TNXBc.3501G>C (p.Val1167=)
c.4242G>C (p.Val1414=)
c.3762G>C (p.Val1254=)
6g.32082271C>TCA449823006TNXBc.3501G>A (p.Val1167=)
c.4242G>A (p.Val1414=)
c.3762G>A (p.Val1254=)
 gnomAD v4
6g.32082272A>CCA363438811TNXBc.3500T>G (p.Val1167Gly)
c.4241T>G (p.Val1414Gly)
c.3761T>G (p.Val1254Gly)
6g.32082272A>GCA363438812TNXBc.3500T>C (p.Val1167Ala)
c.4241T>C (p.Val1414Ala)
c.3761T>C (p.Val1254Ala)
6g.32082272A>TCA363438814TNXBc.3500T>A (p.Val1167Glu)
c.4241T>A (p.Val1414Glu)
c.3761T>A (p.Val1254Glu)
6g.32082273C>ACA363438821TNXBc.3499G>T (p.Val1167Leu)
c.4240G>T (p.Val1414Leu)
c.3760G>T (p.Val1254Leu)
6g.32082273C=CA1619416842TNXBc.3499G= (p.Val1167=)
c.4240G= (p.Val1414=)
c.3760G= (p.Val1254=)
6g.32082273C>GCA136896876TNXBc.3499G>C (p.Val1167Leu)
c.4240G>C (p.Val1414Leu)
c.3760G>C (p.Val1254Leu)
 dbSNP
6g.32082273C>TCA363438819TNXBc.3499G>A (p.Val1167Met)
c.4240G>A (p.Val1414Met)
c.3760G>A (p.Val1254Met)
 gnomAD v4
6g.32082274C>ACA363438844TNXBc.3498G>T (p.Trp1166Cys)
c.4239G>T (p.Trp1413Cys)
c.3759G>T (p.Trp1253Cys)
6g.32082274C>GCA363438851TNXBc.3498G>C (p.Trp1166Cys)
c.4239G>C (p.Trp1413Cys)
c.3759G>C (p.Trp1253Cys)
6g.32082274C>TCA363438850TNXBc.3498G>A (p.Trp1166Ter)
c.4239G>A (p.Trp1413Ter)
c.3759G>A (p.Trp1253Ter)
6g.32082275C>ACA363438853TNXBc.3497G>T (p.Trp1166Leu)
c.4238G>T (p.Trp1413Leu)
c.3758G>T (p.Trp1253Leu)
 gnomAD v4
6g.32082275C>GCA363438855TNXBc.3497G>C (p.Trp1166Ser)
c.4238G>C (p.Trp1413Ser)
c.3758G>C (p.Trp1253Ser)
6g.32082275C>TCA363438860TNXBc.3497G>A (p.Trp1166Ter)
c.4238G>A (p.Trp1413Ter)
c.3758G>A (p.Trp1253Ter)
6g.32082276A>CCA363438864TNXBc.3496T>G (p.Trp1166Gly)
c.4237T>G (p.Trp1413Gly)
c.3757T>G (p.Trp1253Gly)
6g.32082276A>GCA363438866TNXBc.3496T>C (p.Trp1166Arg)
c.4237T>C (p.Trp1413Arg)
c.3757T>C (p.Trp1253Arg)
6g.32082276A>TCA363438876TNXBc.3496T>A (p.Trp1166Arg)
c.4237T>A (p.Trp1413Arg)
c.3757T>A (p.Trp1253Arg)
6g.32082277C>ACA449823010TNXBc.3495G>T (p.Leu1165=)
c.4236G>T (p.Leu1412=)
c.3756G>T (p.Leu1252=)
6g.32082277C>GCA449823011TNXBc.3495G>C (p.Leu1165=)
c.4236G>C (p.Leu1412=)
c.3756G>C (p.Leu1252=)
6g.32082277C>TCA449823012TNXBc.3495G>A (p.Leu1165=)
c.4236G>A (p.Leu1412=)
c.3756G>A (p.Leu1252=)
6g.32082278A>CCA363438879TNXBc.3494T>G (p.Leu1165Arg)
c.4235T>G (p.Leu1412Arg)
c.3755T>G (p.Leu1252Arg)
6g.32082278A>GCA363438881TNXBc.3494T>C (p.Leu1165Pro)
c.4235T>C (p.Leu1412Pro)
c.3755T>C (p.Leu1252Pro)
6g.32082278A>TCA363438889TNXBc.3494T>A (p.Leu1165Gln)
c.4235T>A (p.Leu1412Gln)
c.3755T>A (p.Leu1252Gln)
6g.32082279G>ACA449823013TNXBc.3493C>T (p.Leu1165=)
c.4234C>T (p.Leu1412=)
c.3754C>T (p.Leu1252=)
 gnomAD v4
6g.32082279G>CCA363438893TNXBc.3493C>G (p.Leu1165Val)
c.4234C>G (p.Leu1412Val)
c.3754C>G (p.Leu1252Val)
6g.32082279G>TCA363438897TNXBc.3493C>A (p.Leu1165Met)
c.4234C>A (p.Leu1412Met)
c.3754C>A (p.Leu1252Met)
6g.32082280G>ACA449823016TNXBc.3492C>T (p.Asn1164=)
c.4233C>T (p.Asn1411=)
c.3753C>T (p.Asn1251=)
6g.32082280G>CCA363438902TNXBc.3492C>G (p.Asn1164Lys)
c.4233C>G (p.Asn1411Lys)
c.3753C>G (p.Asn1251Lys)
6g.32082280G>TCA363438900TNXBc.3492C>A (p.Asn1164Lys)
c.4233C>A (p.Asn1411Lys)
c.3753C>A (p.Asn1251Lys)
6g.32082281T>ACA363438904TNXBc.3491A>T (p.Asn1164Ile)
c.4232A>T (p.Asn1411Ile)
c.3752A>T (p.Asn1251Ile)
6g.32082281T>CCA363438907TNXBc.3491A>G (p.Asn1164Ser)
c.4232A>G (p.Asn1411Ser)
c.3752A>G (p.Asn1251Ser)
 gnomAD v4
6g.32082281T>GCA363438915TNXBc.3491A>C (p.Asn1164Thr)
c.4232A>C (p.Asn1411Thr)
c.3752A>C (p.Asn1251Thr)
6g.32082282T>ACA363438918TNXBc.3490A>T (p.Asn1164Tyr)
c.4231A>T (p.Asn1411Tyr)
c.3751A>T (p.Asn1251Tyr)
 dbSNP
6g.32082282T>CCA363438922TNXBc.3490A>G (p.Asn1164Asp)
c.4231A>G (p.Asn1411Asp)
c.3751A>G (p.Asn1251Asp)
6g.32082282T>GCA363438929TNXBc.3490A>C (p.Asn1164His)
c.4231A>C (p.Asn1411His)
c.3751A>C (p.Asn1251His)
6g.32082283T>ACA449823020TNXBc.3489A>T (p.Gly1163=)
c.4230A>T (p.Gly1410=)
c.3750A>T (p.Gly1250=)
6g.32082283T>CCA449823022TNXBc.3489A>G (p.Gly1163=)
c.4230A>G (p.Gly1410=)
c.3750A>G (p.Gly1250=)
6g.32082283T>GCA449823023TNXBc.3489A>C (p.Gly1163=)
c.4230A>C (p.Gly1410=)
c.3750A>C (p.Gly1250=)
6g.32082284C>ACA363438932TNXBc.3488G>T (p.Gly1163Val)
c.4229G>T (p.Gly1410Val)
c.3749G>T (p.Gly1250Val)
6g.32082284C=CA1619416843TNXBc.3488G= (p.Gly1163=)
c.4229G= (p.Gly1410=)
c.3749G= (p.Gly1250=)
6g.32082284C>GCA363438939TNXBc.3488G>C (p.Gly1163Ala)
c.4229G>C (p.Gly1410Ala)
c.3749G>C (p.Gly1250Ala)
6g.32082284C>TCA3735166TNXBc.3488G>A (p.Gly1163Glu)
c.4229G>A (p.Gly1410Glu)
c.3749G>A (p.Gly1250Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32082285C>ACA363438952TNXBc.3487G>T (p.Gly1163Ter)
c.4228G>T (p.Gly1410Ter)
c.3748G>T (p.Gly1250Ter)
6g.32082285C>GCA363438956TNXBc.3487G>C (p.Gly1163Arg)
c.4228G>C (p.Gly1410Arg)
c.3748G>C (p.Gly1250Arg)
6g.32082285C>TCA363438960TNXBc.3487G>A (p.Gly1163Arg)
c.4228G>A (p.Gly1410Arg)
c.3748G>A (p.Gly1250Arg)
6g.32082286C>ACA449823026TNXBc.3486G>T (p.Leu1162=)
c.4227G>T (p.Leu1409=)
c.3747G>T (p.Leu1249=)
6g.32082286C=CA1619416844TNXBc.3486G= (p.Leu1162=)
c.4227G= (p.Leu1409=)
c.3747G= (p.Leu1249=)
6g.32082286C>GCA449823027TNXBc.3486G>C (p.Leu1162=)
c.4227G>C (p.Leu1409=)
c.3747G>C (p.Leu1249=)
6g.32082286C>TCA449823028TNXBc.3486G>A (p.Leu1162=)
c.4227G>A (p.Leu1409=)
c.3747G>A (p.Leu1249=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.32082287A>CCA363438967TNXBc.3485T>G (p.Leu1162Arg)
c.4226T>G (p.Leu1409Arg)
c.3746T>G (p.Leu1249Arg)
6g.32082287A>GCA363438969TNXBc.3485T>C (p.Leu1162Pro)
c.4226T>C (p.Leu1409Pro)
c.3746T>C (p.Leu1249Pro)
 gnomAD v4
6g.32082287A>TCA363438964TNXBc.3485T>A (p.Leu1162Gln)
c.4226T>A (p.Leu1409Gln)
c.3746T>A (p.Leu1249Gln)
6g.32082288G>ACA449823029TNXBc.3484C>T (p.Leu1162=)
c.4225C>T (p.Leu1409=)
c.3745C>T (p.Leu1249=)
 ClinVar dbSNP
6g.32082288G>CCA363438971TNXBc.3484C>G (p.Leu1162Val)
c.4225C>G (p.Leu1409Val)
c.3745C>G (p.Leu1249Val)
6g.32082288G=CA1619416845TNXBc.3484C= (p.Leu1162=)
c.4225C= (p.Leu1409=)
c.3745C= (p.Leu1249=)
6g.32082288G>TCA363438973TNXBc.3484C>A (p.Leu1162Met)
c.4225C>A (p.Leu1409Met)
c.3745C>A (p.Leu1249Met)
6g.32082289G>ACA449823033TNXBc.3483C>T (p.His1161=)
c.4224C>T (p.His1408=)
c.3744C>T (p.His1248=)
 gnomAD v4
6g.32082289G>CCA363438976TNXBc.3483C>G (p.His1161Gln)
c.4224C>G (p.His1408Gln)
c.3744C>G (p.His1248Gln)
6g.32082289G=CA1619416846TNXBc.3483C= (p.His1161=)
c.4224C= (p.His1408=)
c.3744C= (p.His1248=)
6g.32082289G>TCA363438981TNXBc.3483C>A (p.His1161Gln)
c.4224C>A (p.His1408Gln)
c.3744C>A (p.His1248Gln)
6g.32082289_32082290insCCA3735167TNXBc.3482_3483insG (p.His1161GlnfsTer23)
c.4223_4224insG (p.His1408GlnfsTer23)
c.3743_3744insG (p.His1248GlnfsTer23)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32082290T>ACA3735169TNXBc.3482A>T (p.His1161Leu)
c.4223A>T (p.His1408Leu)
c.3743A>T (p.His1248Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32082290T>CCA3735168TNXBc.3482A>G (p.His1161Arg)
c.4223A>G (p.His1408Arg)
c.3743A>G (p.His1248Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32082290T>GCA363438986TNXBc.3482A>C (p.His1161Pro)
c.4223A>C (p.His1408Pro)
c.3743A>C (p.His1248Pro)
 dbSNP gnomAD v2 gnomAD v4
6g.32082290T=CA1619416847TNXBc.3482A= (p.His1161=)
c.4223A= (p.His1408=)
c.3743A= (p.His1248=)
6g.32082291G>ACA363438996TNXBc.3481C>T (p.His1161Tyr)
c.4222C>T (p.His1408Tyr)
c.3742C>T (p.His1248Tyr)
 dbSNP gnomAD v2 gnomAD v4
6g.32082291G>CCA363438999TNXBc.3481C>G (p.His1161Asp)
c.4222C>G (p.His1408Asp)
c.3742C>G (p.His1248Asp)
 gnomAD v4
6g.32082291G=CA1619416848TNXBc.3481C= (p.His1161=)
c.4222C= (p.His1408=)
c.3742C= (p.His1248=)
6g.32082291G>TCA136896924TNXBc.3481C>A (p.His1161Asn)
c.4222C>A (p.His1408Asn)
c.3742C>A (p.His1248Asn)
 dbSNP
6g.32082292G>ACA449823036TNXBc.3480C>T (p.Pro1160=)
c.4221C>T (p.Pro1407=)
c.3741C>T (p.Pro1247=)
 dbSNP gnomAD v4 COSMIC COSMIC
6g.32082292G>CCA449823037TNXBc.3480C>G (p.Pro1160=)
c.4221C>G (p.Pro1407=)
c.3741C>G (p.Pro1247=)
6g.32082292G=CA1619416849TNXBc.3480C= (p.Pro1160=)
c.4221C= (p.Pro1407=)
c.3741C= (p.Pro1247=)
6g.32082292G>TCA449823038TNXBc.3480C>A (p.Pro1160=)
c.4221C>A (p.Pro1407=)
c.3741C>A (p.Pro1247=)
 gnomAD v4
6g.32082293G>ACA363439002TNXBc.3479C>T (p.Pro1160Leu)
c.4220C>T (p.Pro1407Leu)
c.3740C>T (p.Pro1247Leu)
 gnomAD v4
6g.32082293G>CCA363439007TNXBc.3479C>G (p.Pro1160Arg)
c.4220C>G (p.Pro1407Arg)
c.3740C>G (p.Pro1247Arg)
6g.32082293G>TCA363439011TNXBc.3479C>A (p.Pro1160His)
c.4220C>A (p.Pro1407His)
c.3740C>A (p.Pro1247His)
6g.32082294G>ACA363439015TNXBc.3478C>T (p.Pro1160Ser)
c.4219C>T (p.Pro1407Ser)
c.3739C>T (p.Pro1247Ser)
6g.32082294G>CCA363439023TNXBc.3478C>G (p.Pro1160Ala)
c.4219C>G (p.Pro1407Ala)
c.3739C>G (p.Pro1247Ala)
6g.32082294G>TCA363439018TNXBc.3478C>A (p.Pro1160Thr)
c.4219C>A (p.Pro1407Thr)
c.3739C>A (p.Pro1247Thr)
6g.32082295T>ACA449823042TNXBc.3477A>T (p.Pro1159=)
c.4218A>T (p.Pro1406=)
c.3738A>T (p.Pro1246=)
6g.32082295T>CCA449823043TNXBc.3477A>G (p.Pro1159=)
c.4218A>G (p.Pro1406=)
c.3738A>G (p.Pro1246=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.32082295T>GCA449823044TNXBc.3477A>C (p.Pro1159=)
c.4218A>C (p.Pro1406=)
c.3738A>C (p.Pro1246=)
6g.32082295T=CA1619416850TNXBc.3477A= (p.Pro1159=)
c.4218A= (p.Pro1406=)
c.3738A= (p.Pro1246=)
6g.32082296G>ACA3735170TNXBc.3476C>T (p.Pro1159Leu)
c.4217C>T (p.Pro1406Leu)
c.3737C>T (p.Pro1246Leu)
 dbSNP ExAC gnomAD v2
6g.32082296G>CCA363439029TNXBc.3476C>G (p.Pro1159Arg)
c.4217C>G (p.Pro1406Arg)
c.3737C>G (p.Pro1246Arg)
6g.32082296G=CA1619416851TNXBc.3476C= (p.Pro1159=)
c.4217C= (p.Pro1406=)
c.3737C= (p.Pro1246=)
6g.32082296G>TCA363439042TNXBc.3476C>A (p.Pro1159Gln)
c.4217C>A (p.Pro1406Gln)
c.3737C>A (p.Pro1246Gln)

Number of alleles fetched