Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.49951088_49951111delinsCGCCTTCTACGTGGCTGCCCAGCTCA2035390726AQP2c.258_281delinsCGCCTTCTACGTGGCTGCCCAGCT (p.Ala86=)
12g.49951091_49951113delCA689626206AQP2c.261_283del (p.Phe88GlyfsTer11)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.49951109G>ACA479584213AQP2c.279G>A (p.Gln93=)
12g.49951109G>CCA384772249AQP2c.279G>C (p.Gln93His)
gnomAD v4
12g.49951109G>TCA384772250AQP2c.279G>T (p.Gln93His)
12g.49951110C>ACA384772251AQP2c.280C>A (p.Leu94Met)
dbSNP gnomAD v2
12g.49951110C=CA2035390774AQP2c.280C= (p.Leu94=)
12g.49951110C>GCA384772252AQP2c.280C>G (p.Leu94Val)
gnomAD v4
12g.49951110C>TCA479584215AQP2c.280C>T (p.Leu94=)
12g.49951111T>ACA384772253AQP2c.281T>A (p.Leu94Gln)
12g.49951111T>CCA384772254AQP2c.281T>C (p.Leu94Pro)
12g.49951111T>GCA384772255AQP2c.281T>G (p.Leu94Arg)
12g.49951112G>ACA479584218AQP2c.282G>A (p.Leu94=)
12g.49951112G>CCA479584219AQP2c.282G>C (p.Leu94=)
gnomAD v4
12g.49951112G>TCA479584220AQP2c.282G>T (p.Leu94=)
12g.49951113C>ACA384772256AQP2c.283C>A (p.Leu95Met)
12g.49951113C=CA2035390776AQP2c.283C= (p.Leu95=)
12g.49951113C>GCA384772257AQP2c.283C>G (p.Leu95Val)
dbSNP
12g.49951113C>TCA479584221AQP2c.283C>T (p.Leu95=)
12g.49951113_49951115delinsCTGCA2035390777AQP2c.283_285delinsCTG (p.Leu95=)
12g.49951114T>ACA384772258AQP2c.284T>A (p.Leu95Gln)
12g.49951114T>CCA384772259AQP2c.284T>C (p.Leu95Pro)
12g.49951114T>GCA384772260AQP2c.284T>G (p.Leu95Arg)
12g.49951114_49951115delCA6559189AQP2c.284_285del (p.Leu95ArgfsTer11)
dbSNP ExAC gnomAD v2
12g.49951115G>ACA479584223AQP2c.285G>A (p.Leu95=)
gnomAD v4
12g.49951115G>CCA479584224AQP2c.285G>C (p.Leu95=)
gnomAD v4
12g.49951115G>TCA479584225AQP2c.285G>T (p.Leu95=)
12g.49951119dupCA2618691151AQP2c.289dup (p.Ala97GlyfsTer10)
gnomAD v4
12g.49951119delCA2795926928AQP2c.289del (p.Ala97LeufsTer?)
12g.49951116G>ACA384772262AQP2c.286G>A (p.Gly96Arg)
12g.49951116G>CCA384772263AQP2c.286G>C (p.Gly96Arg)
12g.49951116G=CA2035390781AQP2c.286G= (p.Gly96=)
12g.49951116G>TCA384772261AQP2c.286G>T (p.Gly96Trp)
dbSNP gnomAD v2
12g.49951117G>ACA384772266AQP2c.287G>A (p.Gly96Glu)
ClinVar
12g.49951117G>CCA384772264AQP2c.287G>C (p.Gly96Ala)
12g.49951117G>TCA384772265AQP2c.287G>T (p.Gly96Val)
12g.49951118G>ACA479584227AQP2c.288G>A (p.Gly96=)
12g.49951118G>CCA479584228AQP2c.288G>C (p.Gly96=)
gnomAD v4
12g.49951118G=CA2035390783AQP2c.288G= (p.Gly96=)
12g.49951118G>TCA6559190AQP2c.288G>T (p.Gly96=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.49951119G>ACA384772267AQP2c.289G>A (p.Ala97Thr)
12g.49951119G>CCA384772268AQP2c.289G>C (p.Ala97Pro)
12g.49951119G>TCA384772269AQP2c.289G>T (p.Ala97Ser)
gnomAD v4
12g.49951120delCA2618691158AQP2c.290del (p.Ala97ValfsTer?)
gnomAD v4
12g.49951120C>ACA384772270AQP2c.290C>A (p.Ala97Asp)
12g.49951120C>GCA384772271AQP2c.290C>G (p.Ala97Gly)
12g.49951120C>TCA384772272AQP2c.290C>T (p.Ala97Val)
12g.49951121T>ACA479584233AQP2c.291T>A (p.Ala97=)
12g.49951121T>CCA479584234AQP2c.291T>C (p.Ala97=)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.49951121T>GCA479584235AQP2c.291T>G (p.Ala97=)
12g.49951121T=CA2035390784AQP2c.291T= (p.Ala97=)
12g.49951122G>ACA6559191AQP2c.292G>A (p.Val98Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951122G>CCA384772273AQP2c.292G>C (p.Val98Leu)
12g.49951122G=CA2035390786AQP2c.292G= (p.Val98=)
12g.49951122G>TCA6559192AQP2c.292G>T (p.Val98Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951123T>ACA384772276AQP2c.293T>A (p.Val98Glu)
12g.49951123T>CCA384772274AQP2c.293T>C (p.Val98Ala)
12g.49951123T>GCA384772275AQP2c.293T>G (p.Val98Gly)
12g.49951124G>ACA479584241AQP2c.294G>A (p.Val98=)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.49951124G>CCA479584238AQP2c.294G>C (p.Val98=)
12g.49951124G=CA2035390790AQP2c.294G= (p.Val98=)
12g.49951124G>TCA479584240AQP2c.294G>T (p.Val98=)
12g.49951125G>ACA236731640AQP2c.295G>A (p.Ala99Thr)
dbSNP gnomAD v4
12g.49951125G>CCA384772277AQP2c.295G>C (p.Ala99Pro)
12g.49951125G=CA2035390793AQP2c.295G= (p.Ala99=)
12g.49951125G>TCA384772278AQP2c.295G>T (p.Ala99Ser)
12g.49951126C>ACA384772279AQP2c.296C>A (p.Ala99Asp)
12g.49951126C>GCA384772280AQP2c.296C>G (p.Ala99Gly)
12g.49951126C>TCA384772281AQP2c.296C>T (p.Ala99Val)
gnomAD v4
12g.49951127C>ACA479584242AQP2c.297C>A (p.Ala99=)
ClinVar gnomAD v4
12g.49951127C=CA2035390798AQP2c.297C= (p.Ala99=)
12g.49951127C>GCA236731655AQP2c.297C>G (p.Ala99=)
ClinVar dbSNP gnomAD v4
12g.49951127C>TCA479584245AQP2c.297C>T (p.Ala99=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.49951128G>ACA384772282AQP2c.298G>A (p.Gly100Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.49951128G>CCA384772283AQP2c.298G>C (p.Gly100Arg)
12g.49951128G=CA2035390800AQP2c.298G= (p.Gly100=)
12g.49951128G>TCA384772284AQP2c.298G>T (p.Gly100Ter)
12g.49951129G>ACA384772286AQP2c.299G>A (p.Gly100Glu)
12g.49951129G>CCA384772289AQP2c.299G>C (p.Gly100Ala)
gnomAD v4
12g.49951129G=CA2035390803AQP2c.299G= (p.Gly100=)
12g.49951129G>TCA127488AQP2c.299G>T (p.Gly100Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951130A=CA2035390808AQP2c.300A= (p.Gly100=)
12g.49951130A>CCA479584248AQP2c.300A>C (p.Gly100=)
12g.49951130A>GCA479584247AQP2c.300A>G (p.Gly100=)
dbSNP
12g.49951130A>TCA479584249AQP2c.300A>T (p.Gly100=)
12g.49951131G>ACA384772294AQP2c.301G>A (p.Ala101Thr)
dbSNP gnomAD v3 gnomAD v4
12g.49951131G>CCA384772293AQP2c.301G>C (p.Ala101Pro)
12g.49951131G=CA2035390810AQP2c.301G= (p.Ala101=)
12g.49951131G>TCA384772291AQP2c.301G>T (p.Ala101Ser)
12g.49951132C>ACA384772301AQP2c.302C>A (p.Ala101Asp)
12g.49951132C>GCA384772296AQP2c.302C>G (p.Ala101Gly)
12g.49951132C>TCA384772298AQP2c.302C>T (p.Ala101Val)
12g.49951133C>ACA479584251AQP2c.303C>A (p.Ala101=)
dbSNP gnomAD v2 gnomAD v4
12g.49951133C=CA2035390813AQP2c.303C= (p.Ala101=)
12g.49951133C>GCA479584252AQP2c.303C>G (p.Ala101=)
ClinVar dbSNP gnomAD v4
12g.49951133C>TCA6559193AQP2c.303C>T (p.Ala101=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951134G>ACA6559195AQP2c.304G>A (p.Ala102Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951134G>CCA384772305AQP2c.304G>C (p.Ala102Pro)
gnomAD v4
12g.49951134G=CA2035390817AQP2c.304G= (p.Ala102=)
12g.49951134G>TCA6559194AQP2c.304G>T (p.Ala102Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951135C>ACA384772308AQP2c.305C>A (p.Ala102Asp)
12g.49951135C>GCA384772310AQP2c.305C>G (p.Ala102Gly)
12g.49951135C>TCA384772312AQP2c.305C>T (p.Ala102Val)
12g.49951136T>ACA479584255AQP2c.306T>A (p.Ala102=)
dbSNP gnomAD v3 gnomAD v4
12g.49951136T>CCA479584256AQP2c.306T>C (p.Ala102=)
12g.49951136T>GCA479584257AQP2c.306T>G (p.Ala102=)
12g.49951136T=CA2035390821AQP2c.306T= (p.Ala102=)
12g.49951137C>ACA384772313AQP2c.307C>A (p.Leu103Met)
12g.49951137C=CA2035390823AQP2c.307C= (p.Leu103=)
12g.49951137C>GCA384772314AQP2c.307C>G (p.Leu103Val)
gnomAD v4
12g.49951137C>TCA479584258AQP2c.307C>T (p.Leu103=)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.49951138T>ACA384772317AQP2c.308T>A (p.Leu103Gln)
12g.49951138T>CCA384772319AQP2c.308T>C (p.Leu103Pro)
12g.49951138T>GCA384772320AQP2c.308T>G (p.Leu103Arg)
12g.49951139G>ACA479584259AQP2c.309G>A (p.Leu103=)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.49951139G>CCA479584260AQP2c.309G>C (p.Leu103=)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.49951139G=CA2035390825AQP2c.309G= (p.Leu103=)
12g.49951139G>TCA236731680AQP2c.309G>T (p.Leu103=)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.49951140C>ACA384772322AQP2c.310C>A (p.Leu104Ile)
gnomAD v4
12g.49951140C>GCA384772324AQP2c.310C>G (p.Leu104Val)
12g.49951140C>TCA384772326AQP2c.310C>T (p.Leu104Phe)
12g.49951141T>ACA384772327AQP2c.311T>A (p.Leu104His)
12g.49951141T>CCA384772329AQP2c.311T>C (p.Leu104Pro)
12g.49951141T>GCA384772331AQP2c.311T>G (p.Leu104Arg)
12g.49951142C>ACA479584262AQP2c.312C>A (p.Leu104=)
12g.49951142C=CA2035390827AQP2c.312C= (p.Leu104=)
12g.49951142C>GCA479584263AQP2c.312C>G (p.Leu104=)
12g.49951142C>TCA479584264AQP2c.312C>T (p.Leu104=)
ClinVar dbSNP
12g.49951143C>ACA384772333AQP2c.313C>A (p.His105Asn)
12g.49951143C>GCA384772335AQP2c.313C>G (p.His105Asp)
12g.49951143C>TCA384772336AQP2c.313C>T (p.His105Tyr)
12g.49951144A>CCA384772338AQP2c.314A>C (p.His105Pro)
12g.49951144A>GCA384772339AQP2c.314A>G (p.His105Arg)
gnomAD v4
12g.49951144A>TCA384772341AQP2c.314A>T (p.His105Leu)
12g.49951145T>ACA384772343AQP2c.315T>A (p.His105Gln)
12g.49951145T>CCA479584267AQP2c.315T>C (p.His105=)
ClinVar gnomAD v4
12g.49951145T>GCA384772345AQP2c.315T>G (p.His105Gln)
gnomAD v4
12g.49951146G>ACA384772349AQP2c.316G>A (p.Glu106Lys)
12g.49951146G>CCA384772350AQP2c.316G>C (p.Glu106Gln)
12g.49951146G>TCA384772347AQP2c.316G>T (p.Glu106Ter)
12g.49951147A>CCA384772353AQP2c.317A>C (p.Glu106Ala)
12g.49951147A>GCA384772357AQP2c.317A>G (p.Glu106Gly)
12g.49951147A>TCA384772355AQP2c.317A>T (p.Glu106Val)
12g.49951148G>ACA479584270AQP2c.318G>A (p.Glu106=)
12g.49951148G>CCA384772358AQP2c.318G>C (p.Glu106Asp)
12g.49951148G>TCA384772360AQP2c.318G>T (p.Glu106Asp)
12g.49951149A=CA2035390830AQP2c.319A= (p.Ile107=)
12g.49951149A>CCA6559196AQP2c.319A>C (p.Ile107Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.49951149A>GCA384772362AQP2c.319A>G (p.Ile107Val)
12g.49951149A>TCA384772364AQP2c.319A>T (p.Ile107Phe)
12g.49951150T>ACA384772366AQP2c.320T>A (p.Ile107Asn)
12g.49951150T>CCA384772367AQP2c.320T>C (p.Ile107Thr)
dbSNP gnomAD v2 gnomAD v4
12g.49951150T>GCA384772369AQP2c.320T>G (p.Ile107Ser)
12g.49951150T=CA2035390833AQP2c.320T= (p.Ile107=)
12g.49951151C>ACA479584275AQP2c.321C>A (p.Ile107=)
12g.49951151C>GCA384772371AQP2c.321C>G (p.Ile107Met)
12g.49951151C>TCA479584276AQP2c.321C>T (p.Ile107=)
12g.49951152A>CCA384772373AQP2c.322A>C (p.Thr108Pro)
12g.49951152A>GCA384772375AQP2c.322A>G (p.Thr108Ala)
gnomAD v4
12g.49951152A>TCA384772377AQP2c.322A>T (p.Thr108Ser)
12g.49951153C>ACA384772379AQP2c.323C>A (p.Thr108Lys)
12g.49951153C=CA2035390835AQP2c.323C= (p.Thr108=)
12g.49951153C>GCA384772383AQP2c.323C>G (p.Thr108Arg)
12g.49951153C>TCA384772381AQP2c.323C>T (p.Thr108Met)
dbSNP gnomAD v2 gnomAD v4
12g.49951154G>ACA6559197AQP2c.324G>A (p.Thr108=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.49951154G>CCA479584280AQP2c.324G>C (p.Thr108=)
12g.49951154G=CA2035390838AQP2c.324G= (p.Thr108=)
12g.49951154G>TCA479584282AQP2c.324G>T (p.Thr108=)
12g.49951155C>ACA384772387AQP2c.325C>A (p.Pro109Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49951155C=CA2035390840AQP2c.325C= (p.Pro109=)
12g.49951155C>GCA384772388AQP2c.325C>G (p.Pro109Ala)
12g.49951155C>TCA384772389AQP2c.325C>T (p.Pro109Ser)
12g.49951156C>ACA384772391AQP2c.326C>A (p.Pro109Gln)
gnomAD v4
12g.49951156C>GCA384772393AQP2c.326C>G (p.Pro109Arg)
12g.49951156C>TCA384772395AQP2c.326C>T (p.Pro109Leu)
12g.49951157A>CCA479584286AQP2c.327A>C (p.Pro109=)
12g.49951157A>GCA479584287AQP2c.327A>G (p.Pro109=)
12g.49951157A>TCA479584288AQP2c.327A>T (p.Pro109=)
12g.49951158G>ACA384772396AQP2c.328G>A (p.Ala110Thr)
gnomAD v4
12g.49951158G>CCA384772398AQP2c.328G>C (p.Ala110Pro)
12g.49951158G>TCA384772400AQP2c.328G>T (p.Ala110Ser)
12g.49951159C>ACA384772403AQP2c.329C>A (p.Ala110Glu)
12g.49951159C>GCA384772406AQP2c.329C>G (p.Ala110Gly)
12g.49951159C>TCA384772402AQP2c.329C>T (p.Ala110Val)
12g.49951160A>CCA479584291AQP2c.330A>C (p.Ala110=)
12g.49951160A>GCA479584293AQP2c.330A>G (p.Ala110=)
12g.49951160A>TCA479584294AQP2c.330A>T (p.Ala110=)
12g.49951161G>ACA236731713AQP2c.331G>A (p.Asp111Asn)
dbSNP gnomAD v3 gnomAD v4
12g.49951161G>CCA384772408AQP2c.331G>C (p.Asp111His)
12g.49951161G=CA2035390842AQP2c.331G= (p.Asp111=)
12g.49951161G>TCA384772412AQP2c.331G>T (p.Asp111Tyr)
12g.49951162delCA2795926929AQP2c.332del (p.Asp111AlafsTer21)
12g.49951162A=CA2035390844AQP2c.332A= (p.Asp111=)
12g.49951162A>CCA384772413AQP2c.332A>C (p.Asp111Ala)
12g.49951162A>GCA384772414AQP2c.332A>G (p.Asp111Gly)
dbSNP gnomAD v3 gnomAD v4
12g.49951162A>TCA384772416AQP2c.332A>T (p.Asp111Val)
12g.49951163C>ACA384772418AQP2c.333C>A (p.Asp111Glu)
12g.49951163C>GCA384772420AQP2c.333C>G (p.Asp111Glu)
12g.49951163C>TCA479584296AQP2c.333C>T (p.Asp111=)
12g.49951164A=CA2035390847AQP2c.334A= (p.Ile112=)
12g.49951164A>CCA384772421AQP2c.334A>C (p.Ile112Leu)
12g.49951164A>GCA6559198AQP2c.334A>G (p.Ile112Val)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.49951164A>TCA384772423AQP2c.334A>T (p.Ile112Phe)
12g.49951165T>ACA384772426AQP2c.335T>A (p.Ile112Asn)
dbSNP gnomAD v3 gnomAD v4
12g.49951165T>CCA384772427AQP2c.335T>C (p.Ile112Thr)
12g.49951165T>GCA384772429AQP2c.335T>G (p.Ile112Ser)
12g.49951165T=CA2035390849AQP2c.335T= (p.Ile112=)
12g.49951166C>ACA479584300AQP2c.336C>A (p.Ile112=)
dbSNP gnomAD v2 gnomAD v4
12g.49951166C=CA2035390850AQP2c.336C= (p.Ile112=)
12g.49951166C>GCA384772431AQP2c.336C>G (p.Ile112Met)
12g.49951166C>TCA479584299AQP2c.336C>T (p.Ile112=)
gnomAD v4
12g.49951167C>ACA384772433AQP2c.337C>A (p.Arg113Ser)
gnomAD v4
12g.49951167C=CA2035390853AQP2c.337C= (p.Arg113=)
12g.49951167C>GCA384772435AQP2c.337C>G (p.Arg113Gly)
12g.49951167C>TCA6559199AQP2c.337C>T (p.Arg113Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951168G>ACA6559200AQP2c.338G>A (p.Arg113His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951168G>CCA384772438AQP2c.338G>C (p.Arg113Pro)
12g.49951168G=CA2035390855AQP2c.338G= (p.Arg113=)
12g.49951168G>TCA384772440AQP2c.338G>T (p.Arg113Leu)
12g.49951169C>ACA479584304AQP2c.339C>A (p.Arg113=)
ClinVar dbSNP gnomAD v4
12g.49951169C=CA2035390858AQP2c.339C= (p.Arg113=)
12g.49951169C>GCA479584305AQP2c.339C>G (p.Arg113=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49951169C>TCA6559201AQP2c.339C>T (p.Arg113=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.49951170G>ACA6559202AQP2c.340G>A (p.Gly114Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.49951170G>CCA384772444AQP2c.340G>C (p.Gly114Arg)
12g.49951170G=CA2035390866AQP2c.340G= (p.Gly114=)
12g.49951170G>TCA384772446AQP2c.340G>T (p.Gly114Trp)
gnomAD v4
12g.49951173delCA2618691284AQP2c.343del (p.Asp115ThrfsTer17)
gnomAD v4
12g.49951171G>ACA384772448AQP2c.341G>A (p.Gly114Glu)
12g.49951171G>CCA384772450AQP2c.341G>C (p.Gly114Ala)
12g.49951171G=CA2035390869AQP2c.341G= (p.Gly114=)
12g.49951171G>TCA6559203AQP2c.341G>T (p.Gly114Val)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.49951172G>ACA6559204AQP2c.342G>A (p.Gly114=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951172G>CCA479584306AQP2c.342G>C (p.Gly114=)
gnomAD v4
12g.49951172G=CA2035390871AQP2c.342G= (p.Gly114=)
12g.49951172G>TCA479584307AQP2c.342G>T (p.Gly114=)
12g.49951173G>ACA384772460AQP2c.343G>A (p.Asp115Asn)
12g.49951173G>CCA384772461AQP2c.343G>C (p.Asp115His)
12g.49951173G>TCA384772458AQP2c.343G>T (p.Asp115Tyr)
12g.49951174A>CCA384772463AQP2c.344A>C (p.Asp115Ala)
12g.49951174A>GCA384772462AQP2c.344A>G (p.Asp115Gly)
12g.49951174A>TCA384772465AQP2c.344A>T (p.Asp115Val)
12g.49951175C>ACA384772467AQP2c.345C>A (p.Asp115Glu)
gnomAD v4
12g.49951175C=CA2035390881AQP2c.345C= (p.Asp115=)
12g.49951175C>GCA384772469AQP2c.345C>G (p.Asp115Glu)
dbSNP gnomAD v3 gnomAD v4
12g.49951175C>TCA6559205AQP2c.345C>T (p.Asp115=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951176C>ACA384772470AQP2c.346C>A (p.Leu116Met)
gnomAD v4
12g.49951176C>GCA384772472AQP2c.346C>G (p.Leu116Val)
12g.49951176C>TCA479584311AQP2c.346C>T (p.Leu116=)
12g.49951177T>ACA384772474AQP2c.347T>A (p.Leu116Gln)
12g.49951177T>CCA384772476AQP2c.347T>C (p.Leu116Pro)
12g.49951177T>GCA384772477AQP2c.347T>G (p.Leu116Arg)
dbSNP
12g.49951177T=CA2035390883AQP2c.347T= (p.Leu116=)
12g.49951178G>ACA479584315AQP2c.348G>A (p.Leu116=)
gnomAD v4
12g.49951178G>CCA479584317AQP2c.348G>C (p.Leu116=)
12g.49951178G=CA2035390886AQP2c.348G= (p.Leu116=)
12g.49951178G>TCA479584316AQP2c.348G>T (p.Leu116=)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.49951179G>ACA384772480AQP2c.349G>A (p.Ala117Thr)
dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.49951179G>CCA384772482AQP2c.349G>C (p.Ala117Pro)
12g.49951179G=CA2035390887AQP2c.349G= (p.Ala117=)
12g.49951179G>TCA384772483AQP2c.349G>T (p.Ala117Ser)
12g.49951180C>ACA384772486AQP2c.350C>A (p.Ala117Asp)
12g.49951180C=CA2035390892AQP2c.350C= (p.Ala117=)
12g.49951180C>GCA384772489AQP2c.350C>G (p.Ala117Gly)
12g.49951180C>TCA384772488AQP2c.350C>T (p.Ala117Val)
dbSNP gnomAD v2 gnomAD v4
12g.49951181T>ACA479584320AQP2c.351T>A (p.Ala117=)
ClinVar
12g.49951181T>CCA6559206AQP2c.351T>C (p.Ala117=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951181T>GCA479584321AQP2c.351T>G (p.Ala117=)
12g.49951181T=CA2035390896AQP2c.351T= (p.Ala117=)
12g.49951182G>ACA384772492AQP2c.352G>A (p.Val118Ile)
gnomAD v4
12g.49951182G>CCA384772493AQP2c.352G>C (p.Val118Leu)
12g.49951182G>TCA384772494AQP2c.352G>T (p.Val118Phe)
gnomAD v4
12g.49951183T>ACA384772496AQP2c.353T>A (p.Val118Asp)
gnomAD v4
12g.49951183T>CCA384772500AQP2c.353T>C (p.Val118Ala)
dbSNP gnomAD v2 gnomAD v4
12g.49951183T>GCA384772498AQP2c.353T>G (p.Val118Gly)
12g.49951183T=CA2035390899AQP2c.353T= (p.Val118=)
12g.49951184C>ACA479584324AQP2c.354C>A (p.Val118=)
gnomAD v4
12g.49951184C>GCA479584325AQP2c.354C>G (p.Val118=)
12g.49951184C>TCA479584326AQP2c.354C>T (p.Val118=)
gnomAD v4
12g.49951185A>CCA384772502AQP2c.355A>C (p.Asn119His)
12g.49951185A>GCA384772503AQP2c.355A>G (p.Asn119Asp)
gnomAD v4 COSMIC
12g.49951185A>TCA384772505AQP2c.355A>T (p.Asn119Tyr)
12g.49951186A>CCA384772506AQP2c.356A>C (p.Asn119Thr)
12g.49951186A>GCA384772508AQP2c.356A>G (p.Asn119Ser)
12g.49951186A>TCA384772510AQP2c.356A>T (p.Asn119Ile)
12g.49951187T>ACA384772511AQP2c.357T>A (p.Asn119Lys)
12g.49951187T>CCA479584327AQP2c.357T>C (p.Asn119=)
ClinVar dbSNP
12g.49951187T>GCA384772513AQP2c.357T>G (p.Asn119Lys)
12g.49951188G>ACA384772515AQP2c.358G>A (p.Ala120Thr)
gnomAD v4
12g.49951188G>CCA384772517AQP2c.358G>C (p.Ala120Pro)
12g.49951188G>TCA384772518AQP2c.358G>T (p.Ala120Ser)
gnomAD v4
12g.49951189C>ACA384772520AQP2c.359C>A (p.Ala120Asp)
gnomAD v4
12g.49951189C>GCA384772524AQP2c.359C>G (p.Ala120Gly)
12g.49951189C>TCA384772522AQP2c.359C>T (p.Ala120Val)
12g.49951189_49951191delinsCTGCA2035390907AQP2c.359_360+1delinsCTG
12g.49951190T>ACA479584331AQP2c.360T>A (p.Ala120=)
12g.49951190T>CCA479584332AQP2c.360T>C (p.Ala120=)
dbSNP gnomAD v3 gnomAD v4
12g.49951190T>GCA479584333AQP2c.360T>G (p.Ala120=)
12g.49951190T=CA2035390911AQP2c.360T= (p.Ala120=)
12g.49951192_49951193delCA605235882AQP2c.360+2_360+3del
dbSNP gnomAD v2 gnomAD v4
12g.49951191G>ACA6559207AQP2c.360+1G>A (n.360+1G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.49951191G>CCA384772527AQP2c.360+1G>C (n.360+1G>C)
12g.49951191G=CA2035390915AQP2c.360+1G= (n.360+1G=)
12g.49951191G>TCA384772529AQP2c.360+1G>T (n.360+1G>T)
gnomAD v4
12g.49951193_49951196delCA2618691340AQP2c.360+3_360+6del (n.360+3_360+6del)
gnomAD v4
12g.49951192T>ACA384772531AQP2c.360+2T>A (n.360+2T>A)
12g.49951192T>CCA384772533AQP2c.360+2T>C (n.360+2T>C)
gnomAD v4
12g.49951192T>GCA384772535AQP2c.360+2T>G (n.360+2T>G)
12g.49951193G>ACA6559208AQP2c.360+3G>A (n.360+3G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951193G>CCA2581086372AQP2c.360+3G>C (n.360+3G>C)
12g.49951193G=CA1630855687AQP2c.360+3G= (n.360+3G=)
12g.49951193G>TCA2581086371AQP2c.360+3G>T (n.360+3G>T)
gnomAD v4
12g.49951194A=CA2035390923AQP2c.360+4A= (n.360+4A=)
12g.49951194A>GCA605235883AQP2c.360+4A>G (n.360+4A>G)
dbSNP gnomAD v2 gnomAD v4
12g.49951194A>TCA2618691348AQP2c.360+4A>T (n.360+4A>T)
gnomAD v4
12g.49951195G>ACA2618691352AQP2c.360+5G>A (n.360+5G>A)
gnomAD v4
12g.49951195G=CA2035390926AQP2c.360+5G= (n.360+5G=)
12g.49951195G>TCA6559209AQP2c.360+5G>T (n.360+5G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.49951196T>CCA2618691355AQP2c.360+6T>C (n.360+6T>C)
gnomAD v4
12g.49951197A>GCA2618691356AQP2c.360+7A>G (n.360+7A>G)
gnomAD v4
12g.49951198G>ACA236731774AQP2c.360+8G>A (n.360+8G>A)
dbSNP gnomAD v4
12g.49951198G=CA2035390929AQP2c.360+8G= (n.360+8G=)
12g.49951198G>TCA605235884AQP2c.360+8G>T (n.360+8G>T)
dbSNP gnomAD v2 gnomAD v4
12g.49951199C>ACA2618691359AQP2c.360+9C>A (n.360+9C>A)
gnomAD v4
12g.49951200C>ACA2618691362AQP2c.360+10C>A (n.360+10C>A)
gnomAD v4
12g.49951200C=CA2035390931AQP2c.360+10C= (n.360+10C=)
12g.49951200C>TCA605235885AQP2c.360+10C>T (n.360+10C>T)
dbSNP gnomAD v2 gnomAD v4
12g.49951202C>ACA2618691363AQP2c.360+12C>A (n.360+12C>A)
gnomAD v4
12g.49951202C=CA2035390933AQP2c.360+12C= (n.360+12C=)
12g.49951202C>GCA605235886AQP2c.360+12C>G (n.360+12C>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.49951202C>TCA2618691366AQP2c.360+12C>T (n.360+12C>T)
ClinVar gnomAD v4
12g.49951203A>GCA2618691367AQP2c.360+13A>G (n.360+13A>G)
gnomAD v4
12g.49951204A>GCA2618691368AQP2c.360+14A>G (n.360+14A>G)
gnomAD v4
12g.49951205C>ACA2618691370AQP2c.360+15C>A (n.360+15C>A)
gnomAD v4
12g.49951205C=CA2035390936AQP2c.360+15C= (n.360+15C=)
12g.49951205C>TCA605235887AQP2c.360+15C>T (n.360+15C>T)
dbSNP gnomAD v2 gnomAD v4
12g.49951206T>CCA2618691377AQP2c.360+16T>C (n.360+16T>C)
gnomAD v4
12g.49951208delCA2618691374AQP2c.360+18del (n.360+18del)
gnomAD v4
12g.49951207_49951208delCA2618691376AQP2c.360+17_360+18del (n.360+17_360+18del)
gnomAD v4
12g.49951207T>ACA236731776AQP2c.360+17T>A (n.360+17T>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49951207T=CA2035390939AQP2c.360+17T= (n.360+17T=)
12g.49951209G>ACA2618691378AQP2c.360+19G>A (n.360+19G>A)
gnomAD v4
12g.49951209G>TCA2618691379AQP2c.360+19G>T (n.360+19G>T)
gnomAD v4

Number of alleles fetched