Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.214990744A>CCA431387925ABCA12c.3582T>G (p.Val1194=)
c.2628T>G (p.Val876=)
n.3882T>G
n.4080T>G
2g.214990744A>GCA431387927ABCA12c.3582T>C (p.Val1194=)
c.2628T>C (p.Val876=)
n.3882T>C
n.4080T>C
 ClinVar
2g.214990744A>TCA431387928ABCA12c.3582T>A (p.Val1194=)
c.2628T>A (p.Val876=)
n.3882T>A
n.4080T>A
2g.214990745A>CCA350468258ABCA12c.3581T>G (p.Val1194Gly)
c.2627T>G (p.Val876Gly)
n.3881T>G
n.4079T>G
2g.214990745A>GCA350468260ABCA12c.3581T>C (p.Val1194Ala)
c.2627T>C (p.Val876Ala)
n.3881T>C
n.4079T>C
2g.214990745A>TCA350468262ABCA12c.3581T>A (p.Val1194Asp)
c.2627T>A (p.Val876Asp)
n.3881T>A
n.4079T>A
2g.214990746C>ACA350468265ABCA12c.3580G>T (p.Val1194Phe)
c.2626G>T (p.Val876Phe)
n.3880G>T
n.4078G>T
2g.214990746C>GCA350468267ABCA12c.3580G>C (p.Val1194Leu)
c.2626G>C (p.Val876Leu)
n.3880G>C
n.4078G>C
2g.214990746C>TCA350468269ABCA12c.3580G>A (p.Val1194Ile)
c.2626G>A (p.Val876Ile)
n.3880G>A
n.4078G>A
2g.214990747C>ACA431387937ABCA12c.3579G>T (p.Leu1193=)
c.2625G>T (p.Leu875=)
n.3879G>T
n.4077G>T
 gnomAD v4
2g.214990747C=CA1327165338ABCA12c.3579G= (p.Leu1193=)
c.2625G= (p.Leu875=)
n.3879G=
n.4077G=
2g.214990747C>GCA431387939ABCA12c.3579G>C (p.Leu1193=)
c.2625G>C (p.Leu875=)
n.3879G>C
n.4077G>C
 gnomAD v4
2g.214990747C>TCA64827476ABCA12c.3579G>A (p.Leu1193=)
c.2625G>A (p.Leu875=)
n.3879G>A
n.4077G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.214990748A>CCA350468275ABCA12c.3578T>G (p.Leu1193Arg)
c.2624T>G (p.Leu875Arg)
n.3878T>G
n.4076T>G
2g.214990748A>GCA350468271ABCA12c.3578T>C (p.Leu1193Pro)
c.2624T>C (p.Leu875Pro)
n.3878T>C
n.4076T>C
 gnomAD v4
2g.214990748A>TCA350468273ABCA12c.3578T>A (p.Leu1193Gln)
c.2624T>A (p.Leu875Gln)
n.3878T>A
n.4076T>A
2g.214990749G>ACA431387948ABCA12c.3577C>T (p.Leu1193=)
c.2623C>T (p.Leu875=)
n.3877C>T
n.4075C>T
2g.214990749G>CCA2091709ABCA12c.3577C>G (p.Leu1193Val)
c.2623C>G (p.Leu875Val)
n.3877C>G
n.4075C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990749G=CA1327165339ABCA12c.3577C= (p.Leu1193=)
c.2623C= (p.Leu875=)
n.3877C=
n.4075C=
2g.214990749G>TCA350468277ABCA12c.3577C>A (p.Leu1193Met)
c.2623C>A (p.Leu875Met)
n.3877C>A
n.4075C>A
2g.214990749_214990752delinsGAACCA1327165340ABCA12c.3574_3577delinsGTTC (p.Val1192=)
c.2620_2623delinsGTTC (p.Val874=)
n.3874_3877delinsGTTC
n.4072_4075delinsGTTC
2g.214990750A>CCA431387959ABCA12c.3576T>G (p.Val1192=)
c.2622T>G (p.Val874=)
n.3876T>G
n.4074T>G
2g.214990750A>GCA431387961ABCA12c.3576T>C (p.Val1192=)
c.2622T>C (p.Val874=)
n.3876T>C
n.4074T>C
2g.214990750A>TCA431387963ABCA12c.3576T>A (p.Val1192=)
c.2622T>A (p.Val874=)
n.3876T>A
n.4074T>A
2g.214990752_214990754delCA539837460ABCA12c.3574_3576del (p.Val1192del)
c.2620_2622del (p.Val874del)
n.3874_3876del
n.4072_4074del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214990751A>CCA350468279ABCA12c.3575T>G (p.Val1192Gly)
c.2621T>G (p.Val874Gly)
n.3875T>G
n.4073T>G
2g.214990751A>GCA350468280ABCA12c.3575T>C (p.Val1192Ala)
c.2621T>C (p.Val874Ala)
n.3875T>C
n.4073T>C
2g.214990751A>TCA350468282ABCA12c.3575T>A (p.Val1192Asp)
c.2621T>A (p.Val874Asp)
n.3875T>A
n.4073T>A
2g.214990752C>ACA350468289ABCA12c.3574G>T (p.Val1192Phe)
c.2620G>T (p.Val874Phe)
n.3874G>T
n.4072G>T
2g.214990752C>GCA350468285ABCA12c.3574G>C (p.Val1192Leu)
c.2620G>C (p.Val874Leu)
n.3874G>C
n.4072G>C
2g.214990752C>TCA350468288ABCA12c.3574G>A (p.Val1192Ile)
c.2620G>A (p.Val874Ile)
n.3874G>A
n.4072G>A
 gnomAD v4
2g.214990753A>CCA350468292ABCA12c.3573T>G (p.Ile1191Met)
c.2619T>G (p.Ile873Met)
n.3873T>G
n.4071T>G
2g.214990753A>GCA431387977ABCA12c.3573T>C (p.Ile1191=)
c.2619T>C (p.Ile873=)
n.3873T>C
n.4071T>C
2g.214990753A>TCA431387976ABCA12c.3573T>A (p.Ile1191=)
c.2619T>A (p.Ile873=)
n.3873T>A
n.4071T>A
2g.214990754A=CA1327165341ABCA12c.3572T= (p.Ile1191=)
c.2618T= (p.Ile873=)
n.3872T=
n.4070T=
2g.214990754A>CCA350468296ABCA12c.3572T>G (p.Ile1191Ser)
c.2618T>G (p.Ile873Ser)
n.3872T>G
n.4070T>G
2g.214990754A>GCA2091710ABCA12c.3572T>C (p.Ile1191Thr)
c.2618T>C (p.Ile873Thr)
n.3872T>C
n.4070T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214990754A>TCA350468305ABCA12c.3572T>A (p.Ile1191Asn)
c.2618T>A (p.Ile873Asn)
n.3872T>A
n.4070T>A
2g.214990755T>ACA350468311ABCA12c.3571A>T (p.Ile1191Phe)
c.2617A>T (p.Ile873Phe)
n.3871A>T
n.4069A>T
2g.214990755T>CCA350468312ABCA12c.3571A>G (p.Ile1191Val)
c.2617A>G (p.Ile873Val)
n.3871A>G
n.4069A>G
 gnomAD v4
2g.214990755T>GCA350468313ABCA12c.3571A>C (p.Ile1191Leu)
c.2617A>C (p.Ile873Leu)
n.3871A>C
n.4069A>C
2g.214990756A>CCA350468314ABCA12c.3570T>G (p.Phe1190Leu)
c.2616T>G (p.Phe872Leu)
n.3870T>G
n.4068T>G
2g.214990756A>GCA431387980ABCA12c.3570T>C (p.Phe1190=)
c.2616T>C (p.Phe872=)
n.3870T>C
n.4068T>C
2g.214990756A>TCA350468315ABCA12c.3570T>A (p.Phe1190Leu)
c.2616T>A (p.Phe872Leu)
n.3870T>A
n.4068T>A
2g.214990757A>CCA350468317ABCA12c.3569T>G (p.Phe1190Cys)
c.2615T>G (p.Phe872Cys)
n.3869T>G
n.4067T>G
 gnomAD v4
2g.214990757A>GCA350468320ABCA12c.3569T>C (p.Phe1190Ser)
c.2615T>C (p.Phe872Ser)
n.3869T>C
n.4067T>C
2g.214990757A>TCA350468321ABCA12c.3569T>A (p.Phe1190Tyr)
c.2615T>A (p.Phe872Tyr)
n.3869T>A
n.4067T>A
2g.214990758A>CCA350468324ABCA12c.3568T>G (p.Phe1190Val)
c.2614T>G (p.Phe872Val)
n.3868T>G
n.4066T>G
2g.214990758A>GCA350468322ABCA12c.3568T>C (p.Phe1190Leu)
c.2614T>C (p.Phe872Leu)
n.3868T>C
n.4066T>C
2g.214990758A>TCA350468323ABCA12c.3568T>A (p.Phe1190Ile)
c.2614T>A (p.Phe872Ile)
n.3868T>A
n.4066T>A
2g.214990759T>ACA431387984ABCA12c.3567A>T (p.Pro1189=)
c.2613A>T (p.Pro871=)
n.3867A>T
n.4065A>T
2g.214990759T>CCA2091711ABCA12c.3567A>G (p.Pro1189=)
c.2613A>G (p.Pro871=)
n.3867A>G
n.4065A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990759T>GCA431387985ABCA12c.3567A>C (p.Pro1189=)
c.2613A>C (p.Pro871=)
n.3867A>C
n.4065A>C
2g.214990759T=CA1327165342ABCA12c.3567A= (p.Pro1189=)
c.2613A= (p.Pro871=)
n.3867A=
n.4065A=
2g.214990760G>ACA350468327ABCA12c.3566C>T (p.Pro1189Leu)
c.2612C>T (p.Pro871Leu)
n.3866C>T
n.4064C>T
2g.214990760G>CCA350468329ABCA12c.3566C>G (p.Pro1189Arg)
c.2612C>G (p.Pro871Arg)
n.3866C>G
n.4064C>G
2g.214990760G>TCA350468331ABCA12c.3566C>A (p.Pro1189Gln)
c.2612C>A (p.Pro871Gln)
n.3866C>A
n.4064C>A
2g.214990761G>ACA350468334ABCA12c.3565C>T (p.Pro1189Ser)
c.2611C>T (p.Pro871Ser)
n.3865C>T
n.4063C>T
2g.214990761G>CCA350468337ABCA12c.3565C>G (p.Pro1189Ala)
c.2611C>G (p.Pro871Ala)
n.3865C>G
n.4063C>G
2g.214990761G>TCA350468339ABCA12c.3565C>A (p.Pro1189Thr)
c.2611C>A (p.Pro871Thr)
n.3865C>A
n.4063C>A
2g.214990762A=CA1327165343ABCA12c.3564T= (p.Phe1188=)
c.2610T= (p.Phe870=)
n.3864T=
n.4062T=
2g.214990762A>CCA2091712ABCA12c.3564T>G (p.Phe1188Leu)
c.2610T>G (p.Phe870Leu)
n.3864T>G
n.4062T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990762A>GCA431387990ABCA12c.3564T>C (p.Phe1188=)
c.2610T>C (p.Phe870=)
n.3864T>C
n.4062T>C
2g.214990762A>TCA350468355ABCA12c.3564T>A (p.Phe1188Leu)
c.2610T>A (p.Phe870Leu)
n.3864T>A
n.4062T>A
2g.214990763A>CCA350468358ABCA12c.3563T>G (p.Phe1188Cys)
c.2609T>G (p.Phe870Cys)
n.3863T>G
n.4061T>G
2g.214990763A>GCA350468361ABCA12c.3563T>C (p.Phe1188Ser)
c.2609T>C (p.Phe870Ser)
n.3863T>C
n.4061T>C
2g.214990763A>TCA350468370ABCA12c.3563T>A (p.Phe1188Tyr)
c.2609T>A (p.Phe870Tyr)
n.3863T>A
n.4061T>A
 COSMIC
2g.214990764A=CA1327165344ABCA12c.3562T= (p.Phe1188=)
c.2608T= (p.Phe870=)
n.3862T=
n.4060T=
2g.214990764A>CCA350468374ABCA12c.3562T>G (p.Phe1188Val)
c.2608T>G (p.Phe870Val)
n.3862T>G
n.4060T>G
2g.214990764A>GCA2091713ABCA12c.3562T>C (p.Phe1188Leu)
c.2608T>C (p.Phe870Leu)
n.3862T>C
n.4060T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214990764A>TCA350468375ABCA12c.3562T>A (p.Phe1188Ile)
c.2608T>A (p.Phe870Ile)
n.3862T>A
n.4060T>A
2g.214990765G>ACA431387993ABCA12c.3561C>T (p.Phe1187=)
c.2607C>T (p.Phe869=)
n.3861C>T
n.4059C>T
 ClinVar dbSNP gnomAD v4
2g.214990765G>CCA350468377ABCA12c.3561C>G (p.Phe1187Leu)
c.2607C>G (p.Phe869Leu)
n.3861C>G
n.4059C>G
2g.214990765G=CA1327165345ABCA12c.3561C= (p.Phe1187=)
c.2607C= (p.Phe869=)
n.3861C=
n.4059C=
2g.214990765G>TCA350468378ABCA12c.3561C>A (p.Phe1187Leu)
c.2607C>A (p.Phe869Leu)
n.3861C>A
n.4059C>A
2g.214990766A=CA1327165346ABCA12c.3560T= (p.Phe1187=)
c.2606T= (p.Phe869=)
n.3860T=
n.4058T=
2g.214990766A>CCA350468381ABCA12c.3560T>G (p.Phe1187Cys)
c.2606T>G (p.Phe869Cys)
n.3860T>G
n.4058T>G
 dbSNP
2g.214990766A>GCA350468387ABCA12c.3560T>C (p.Phe1187Ser)
c.2606T>C (p.Phe869Ser)
n.3860T>C
n.4058T>C
2g.214990766A>TCA350468389ABCA12c.3560T>A (p.Phe1187Tyr)
c.2606T>A (p.Phe869Tyr)
n.3860T>A
n.4058T>A
2g.214990767A>CCA350468392ABCA12c.3559T>G (p.Phe1187Val)
c.2605T>G (p.Phe869Val)
n.3859T>G
n.4057T>G
2g.214990767A>GCA350468395ABCA12c.3559T>C (p.Phe1187Leu)
c.2605T>C (p.Phe869Leu)
n.3859T>C
n.4057T>C
2g.214990767A>TCA350468397ABCA12c.3559T>A (p.Phe1187Ile)
c.2605T>A (p.Phe869Ile)
n.3859T>A
n.4057T>A
2g.214990768G>ACA431387994ABCA12c.3558C>T (p.Ala1186=)
c.2604C>T (p.Ala868=)
n.3858C>T
n.4056C>T
2g.214990768G>CCA431387995ABCA12c.3558C>G (p.Ala1186=)
c.2604C>G (p.Ala868=)
n.3858C>G
n.4056C>G
 gnomAD v4
2g.214990768G>TCA431387996ABCA12c.3558C>A (p.Ala1186=)
c.2604C>A (p.Ala868=)
n.3858C>A
n.4056C>A
 ClinVar
2g.214990769G>ACA350468399ABCA12c.3557C>T (p.Ala1186Val)
c.2603C>T (p.Ala868Val)
n.3857C>T
n.4055C>T
2g.214990769G>CCA350468401ABCA12c.3557C>G (p.Ala1186Gly)
c.2603C>G (p.Ala868Gly)
n.3857C>G
n.4055C>G
2g.214990769G=CA1327165347ABCA12c.3557C= (p.Ala1186=)
c.2603C= (p.Ala868=)
n.3857C=
n.4055C=
2g.214990769G>TCA350468403ABCA12c.3557C>A (p.Ala1186Asp)
c.2603C>A (p.Ala868Asp)
n.3857C>A
n.4055C>A
 dbSNP gnomAD v2 gnomAD v4
2g.214990770C>ACA350468408ABCA12c.3556G>T (p.Ala1186Ser)
c.2602G>T (p.Ala868Ser)
n.3856G>T
n.4054G>T
2g.214990770C>GCA350468411ABCA12c.3556G>C (p.Ala1186Pro)
c.2602G>C (p.Ala868Pro)
n.3856G>C
n.4054G>C
 gnomAD v4
2g.214990770C>TCA350468414ABCA12c.3556G>A (p.Ala1186Thr)
c.2602G>A (p.Ala868Thr)
n.3856G>A
n.4054G>A
2g.214990771A>CCA350468417ABCA12c.3555T>G (p.Ile1185Met)
c.2601T>G (p.Ile867Met)
n.3855T>G
n.4053T>G
2g.214990771A>GCA431388000ABCA12c.3555T>C (p.Ile1185=)
c.2601T>C (p.Ile867=)
n.3855T>C
n.4053T>C
2g.214990771A>TCA431388001ABCA12c.3555T>A (p.Ile1185=)
c.2601T>A (p.Ile867=)
n.3855T>A
n.4053T>A
2g.214990772A>CCA350468424ABCA12c.3554T>G (p.Ile1185Ser)
c.2600T>G (p.Ile867Ser)
n.3854T>G
n.4052T>G
2g.214990772A>GCA350468420ABCA12c.3554T>C (p.Ile1185Thr)
c.2600T>C (p.Ile867Thr)
n.3854T>C
n.4052T>C
 gnomAD v4
2g.214990772A>TCA350468422ABCA12c.3554T>A (p.Ile1185Asn)
c.2600T>A (p.Ile867Asn)
n.3854T>A
n.4052T>A
2g.214990773T>ACA350468427ABCA12c.3553A>T (p.Ile1185Phe)
c.2599A>T (p.Ile867Phe)
n.3853A>T
n.4051A>T
2g.214990773T>CCA2091714ABCA12c.3553A>G (p.Ile1185Val)
c.2599A>G (p.Ile867Val)
n.3853A>G
n.4051A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214990773T>GCA350468431ABCA12c.3553A>C (p.Ile1185Leu)
c.2599A>C (p.Ile867Leu)
n.3853A>C
n.4051A>C
2g.214990773T=CA1327165348ABCA12c.3553A= (p.Ile1185=)
c.2599A= (p.Ile867=)
n.3853A=
n.4051A=
2g.214990774G>ACA431388007ABCA12c.3552C>T (p.Ile1184=)
c.2598C>T (p.Ile866=)
n.3852C>T
n.4050C>T
2g.214990774G>CCA350468434ABCA12c.3552C>G (p.Ile1184Met)
c.2598C>G (p.Ile866Met)
n.3852C>G
n.4050C>G
2g.214990774G>TCA431388003ABCA12c.3552C>A (p.Ile1184=)
c.2598C>A (p.Ile866=)
n.3852C>A
n.4050C>A
2g.214990775A>CCA350468437ABCA12c.3551T>G (p.Ile1184Ser)
c.2597T>G (p.Ile866Ser)
n.3851T>G
n.4049T>G
2g.214990775A>GCA350468438ABCA12c.3551T>C (p.Ile1184Thr)
c.2597T>C (p.Ile866Thr)
n.3851T>C
n.4049T>C
2g.214990775A>TCA350468439ABCA12c.3551T>A (p.Ile1184Asn)
c.2597T>A (p.Ile866Asn)
n.3851T>A
n.4049T>A
2g.214990776T>ACA350468440ABCA12c.3550A>T (p.Ile1184Phe)
c.2596A>T (p.Ile866Phe)
n.3850A>T
n.4048A>T
2g.214990776T>CCA350468441ABCA12c.3550A>G (p.Ile1184Val)
c.2596A>G (p.Ile866Val)
n.3850A>G
n.4048A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214990776T>GCA350468442ABCA12c.3550A>C (p.Ile1184Leu)
c.2596A>C (p.Ile866Leu)
n.3850A>C
n.4048A>C
2g.214990776T=CA1327165349ABCA12c.3550A= (p.Ile1184=)
c.2596A= (p.Ile866=)
n.3850A=
n.4048A=
2g.214990777G>ACA431388013ABCA12c.3549C>T (p.Tyr1183=)
c.2595C>T (p.Tyr865=)
n.3849C>T
n.4047C>T
 gnomAD v4
2g.214990777G>CCA350468449ABCA12c.3549C>G (p.Tyr1183Ter)
c.2595C>G (p.Tyr865Ter)
n.3849C>G
n.4047C>G
2g.214990777G>TCA350468453ABCA12c.3549C>A (p.Tyr1183Ter)
c.2595C>A (p.Tyr865Ter)
n.3849C>A
n.4047C>A
2g.214990778T>ACA350468463ABCA12c.3548A>T (p.Tyr1183Phe)
c.2594A>T (p.Tyr865Phe)
n.3848A>T
n.4046A>T
2g.214990778T>CCA2091715ABCA12c.3548A>G (p.Tyr1183Cys)
c.2594A>G (p.Tyr865Cys)
n.3848A>G
n.4046A>G
 dbSNP ExAC gnomAD v2
2g.214990778T>GCA350468459ABCA12c.3548A>C (p.Tyr1183Ser)
c.2594A>C (p.Tyr865Ser)
n.3848A>C
n.4046A>C
2g.214990778T=CA1327165350ABCA12c.3548A= (p.Tyr1183=)
c.2594A= (p.Tyr865=)
n.3848A=
n.4046A=
2g.214990779A>CCA350468468ABCA12c.3547T>G (p.Tyr1183Asp)
c.2593T>G (p.Tyr865Asp)
n.3847T>G
n.4045T>G
2g.214990779A>GCA350468471ABCA12c.3547T>C (p.Tyr1183His)
c.2593T>C (p.Tyr865His)
n.3847T>C
n.4045T>C
 COSMIC COSMIC
2g.214990779A>TCA350468473ABCA12c.3547T>A (p.Tyr1183Asn)
c.2593T>A (p.Tyr865Asn)
n.3847T>A
n.4045T>A
2g.214990780G>ACA431388016ABCA12c.3546C>T (p.Ile1182=)
c.2592C>T (p.Ile864=)
n.3846C>T
n.4044C>T
 gnomAD v4
2g.214990780G>CCA2091716ABCA12c.3546C>G (p.Ile1182Met)
c.2592C>G (p.Ile864Met)
n.3846C>G
n.4044C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214990780G=CA1327165351ABCA12c.3546C= (p.Ile1182=)
c.2592C= (p.Ile864=)
n.3846C=
n.4044C=
2g.214990780G>TCA431388017ABCA12c.3546C>A (p.Ile1182=)
c.2592C>A (p.Ile864=)
n.3846C>A
n.4044C>A
2g.214990781A=CA1327165352ABCA12c.3545T= (p.Ile1182=)
c.2591T= (p.Ile864=)
n.3845T=
n.4043T=
2g.214990781A>CCA350468479ABCA12c.3545T>G (p.Ile1182Ser)
c.2591T>G (p.Ile864Ser)
n.3845T>G
n.4043T>G
2g.214990781A>GCA2091717ABCA12c.3545T>C (p.Ile1182Thr)
c.2591T>C (p.Ile864Thr)
n.3845T>C
n.4043T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990781A>TCA350468483ABCA12c.3545T>A (p.Ile1182Asn)
c.2591T>A (p.Ile864Asn)
n.3845T>A
n.4043T>A
2g.214990782T>ACA350468484ABCA12c.3544A>T (p.Ile1182Phe)
c.2590A>T (p.Ile864Phe)
n.3844A>T
n.4042A>T
2g.214990782T>CCA350468485ABCA12c.3544A>G (p.Ile1182Val)
c.2590A>G (p.Ile864Val)
n.3844A>G
n.4042A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214990782T>GCA350468486ABCA12c.3544A>C (p.Ile1182Leu)
c.2590A>C (p.Ile864Leu)
n.3844A>C
n.4042A>C
2g.214990782T=CA1327165353ABCA12c.3544A= (p.Ile1182=)
c.2590A= (p.Ile864=)
n.3844A=
n.4042A=
2g.214990783G>ACA431388022ABCA12c.3543C>T (p.Leu1181=)
c.2589C>T (p.Leu863=)
n.3843C>T
n.4041C>T
 ClinVar
2g.214990783G>CCA431388023ABCA12c.3543C>G (p.Leu1181=)
c.2589C>G (p.Leu863=)
n.3843C>G
n.4041C>G
2g.214990783G>TCA431388024ABCA12c.3543C>A (p.Leu1181=)
c.2589C>A (p.Leu863=)
n.3843C>A
n.4041C>A
2g.214990784A>CCA350468489ABCA12c.3542T>G (p.Leu1181Arg)
c.2588T>G (p.Leu863Arg)
n.3842T>G
n.4040T>G
2g.214990784A>GCA350468492ABCA12c.3542T>C (p.Leu1181Pro)
c.2588T>C (p.Leu863Pro)
n.3842T>C
n.4040T>C
2g.214990784A>TCA350468493ABCA12c.3542T>A (p.Leu1181His)
c.2588T>A (p.Leu863His)
n.3842T>A
n.4040T>A
 gnomAD v4
2g.214990785G>ACA350468501ABCA12c.3541C>T (p.Leu1181Phe)
c.2587C>T (p.Leu863Phe)
n.3841C>T
n.4039C>T
2g.214990785G>CCA350468505ABCA12c.3541C>G (p.Leu1181Val)
c.2587C>G (p.Leu863Val)
n.3841C>G
n.4039C>G
2g.214990785G>TCA350468496ABCA12c.3541C>A (p.Leu1181Ile)
c.2587C>A (p.Leu863Ile)
n.3841C>A
n.4039C>A
2g.214990786G>ACA431388029ABCA12c.3540C>T (p.Ser1180=)
c.2586C>T (p.Ser862=)
n.3840C>T
n.4038C>T
2g.214990786G>CCA350468509ABCA12c.3540C>G (p.Ser1180Arg)
c.2586C>G (p.Ser862Arg)
n.3840C>G
n.4038C>G
2g.214990786G>TCA350468511ABCA12c.3540C>A (p.Ser1180Arg)
c.2586C>A (p.Ser862Arg)
n.3840C>A
n.4038C>A
2g.214990787C>ACA350468521ABCA12c.3539G>T (p.Ser1180Ile)
c.2585G>T (p.Ser862Ile)
n.3839G>T
n.4037G>T
2g.214990787C>GCA350468526ABCA12c.3539G>C (p.Ser1180Thr)
c.2585G>C (p.Ser862Thr)
n.3839G>C
n.4037G>C
2g.214990787C>TCA350468524ABCA12c.3539G>A (p.Ser1180Asn)
c.2585G>A (p.Ser862Asn)
n.3839G>A
n.4037G>A
2g.214990788T>ACA350468536ABCA12c.3538A>T (p.Ser1180Cys)
c.2584A>T (p.Ser862Cys)
n.3838A>T
n.4036A>T
2g.214990788T>CCA350468539ABCA12c.3538A>G (p.Ser1180Gly)
c.2584A>G (p.Ser862Gly)
n.3838A>G
n.4036A>G
2g.214990788T>GCA350468546ABCA12c.3538A>C (p.Ser1180Arg)
c.2584A>C (p.Ser862Arg)
n.3838A>C
n.4036A>C
2g.214990789T>ACA431388033ABCA12c.3537A>T (p.Gly1179=)
c.2583A>T (p.Gly861=)
n.3837A>T
n.4035A>T
2g.214990789T>CCA431388034ABCA12c.3537A>G (p.Gly1179=)
c.2583A>G (p.Gly861=)
n.3837A>G
n.4035A>G
2g.214990789T>GCA431388035ABCA12c.3537A>C (p.Gly1179=)
c.2583A>C (p.Gly861=)
n.3837A>C
n.4035A>C
2g.214990790C>ACA350468548ABCA12c.3536G>T (p.Gly1179Val)
c.2582G>T (p.Gly861Val)
n.3836G>T
n.4034G>T
2g.214990790C>GCA350468553ABCA12c.3536G>C (p.Gly1179Ala)
c.2582G>C (p.Gly861Ala)
n.3836G>C
n.4034G>C
2g.214990790C>TCA350468555ABCA12c.3536G>A (p.Gly1179Glu)
c.2582G>A (p.Gly861Glu)
n.3836G>A
n.4034G>A
2g.214990791C>ACA350468557ABCA12c.3535G>T (p.Gly1179Ter)
c.2581G>T (p.Gly861Ter)
n.3835G>T
n.4033G>T
 ClinVar
2g.214990791C=CA1327165354ABCA12c.3535G= (p.Gly1179=)
c.2581G= (p.Gly861=)
n.3835G=
n.4033G=
2g.214990791C>GCA350468560ABCA12c.3535G>C (p.Gly1179Arg)
c.2581G>C (p.Gly861Arg)
n.3835G>C
n.4033G>C
2g.214990791C>TCA252486ABCA12c.3535G>A (p.Gly1179Arg)
c.2581G>A (p.Gly861Arg)
n.3835G>A
n.4033G>A
 ClinVar dbSNP gnomAD v4
2g.214990792G>ACA2091718ABCA12c.3534C>T (p.Ile1178=)
c.2580C>T (p.Ile860=)
n.3834C>T
n.4032C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990792G>CCA350468570ABCA12c.3534C>G (p.Ile1178Met)
c.2580C>G (p.Ile860Met)
n.3834C>G
n.4032C>G
2g.214990792G=CA1327165355ABCA12c.3534C= (p.Ile1178=)
c.2580C= (p.Ile860=)
n.3834C=
n.4032C=
2g.214990792G>TCA431388042ABCA12c.3534C>A (p.Ile1178=)
c.2580C>A (p.Ile860=)
n.3834C>A
n.4032C>A
 ClinVar gnomAD v4
2g.214990793A>CCA350468577ABCA12c.3533T>G (p.Ile1178Ser)
c.2579T>G (p.Ile860Ser)
n.3833T>G
n.4031T>G
 gnomAD v4
2g.214990793A>GCA350468572ABCA12c.3533T>C (p.Ile1178Thr)
c.2579T>C (p.Ile860Thr)
n.3833T>C
n.4031T>C
2g.214990793A>TCA350468575ABCA12c.3533T>A (p.Ile1178Asn)
c.2579T>A (p.Ile860Asn)
n.3833T>A
n.4031T>A
2g.214990794T>ACA350468583ABCA12c.3532A>T (p.Ile1178Phe)
c.2578A>T (p.Ile860Phe)
n.3832A>T
n.4030A>T
2g.214990794T>CCA350468586ABCA12c.3532A>G (p.Ile1178Val)
c.2578A>G (p.Ile860Val)
n.3832A>G
n.4030A>G
 gnomAD v4
2g.214990794T>GCA350468589ABCA12c.3532A>C (p.Ile1178Leu)
c.2578A>C (p.Ile860Leu)
n.3832A>C
n.4030A>C
2g.214990795C>ACA431388048ABCA12c.3531G>T (p.Leu1177=)
c.2577G>T (p.Leu859=)
n.3831G>T
n.4029G>T
2g.214990795C>GCA431388049ABCA12c.3531G>C (p.Leu1177=)
c.2577G>C (p.Leu859=)
n.3831G>C
n.4029G>C
2g.214990795C>TCA431388047ABCA12c.3531G>A (p.Leu1177=)
c.2577G>A (p.Leu859=)
n.3831G>A
n.4029G>A
2g.214990796A>CCA350468591ABCA12c.3530T>G (p.Leu1177Arg)
c.2576T>G (p.Leu859Arg)
n.3830T>G
n.4028T>G
2g.214990796A>GCA350468593ABCA12c.3530T>C (p.Leu1177Pro)
c.2576T>C (p.Leu859Pro)
n.3830T>C
n.4028T>C
2g.214990796A>TCA350468596ABCA12c.3530T>A (p.Leu1177Gln)
c.2576T>A (p.Leu859Gln)
n.3830T>A
n.4028T>A
2g.214990797G>ACA431388051ABCA12c.3529C>T (p.Leu1177=)
c.2575C>T (p.Leu859=)
n.3829C>T
n.4027C>T
2g.214990797G>CCA350468598ABCA12c.3529C>G (p.Leu1177Val)
c.2575C>G (p.Leu859Val)
n.3829C>G
n.4027C>G
2g.214990797G>TCA350468600ABCA12c.3529C>A (p.Leu1177Met)
c.2575C>A (p.Leu859Met)
n.3829C>A
n.4027C>A
2g.214990798A>CCA431388052ABCA12c.3528T>G (p.Ala1176=)
c.2574T>G (p.Ala858=)
n.3828T>G
n.4026T>G
2g.214990798A>GCA431388053ABCA12c.3528T>C (p.Ala1176=)
c.2574T>C (p.Ala858=)
n.3828T>C
n.4026T>C
2g.214990798A>TCA431388054ABCA12c.3528T>A (p.Ala1176=)
c.2574T>A (p.Ala858=)
n.3828T>A
n.4026T>A
2g.214990799G>ACA350468602ABCA12c.3527C>T (p.Ala1176Val)
c.2573C>T (p.Ala858Val)
n.3827C>T
n.4025C>T
2g.214990799G>CCA350468607ABCA12c.3527C>G (p.Ala1176Gly)
c.2573C>G (p.Ala858Gly)
n.3827C>G
n.4025C>G
2g.214990799G>TCA350468610ABCA12c.3527C>A (p.Ala1176Asp)
c.2573C>A (p.Ala858Asp)
n.3827C>A
n.4025C>A
2g.214990800C>ACA350468616ABCA12c.3526G>T (p.Ala1176Ser)
c.2572G>T (p.Ala858Ser)
n.3826G>T
n.4024G>T
2g.214990800C>GCA350468619ABCA12c.3526G>C (p.Ala1176Pro)
c.2572G>C (p.Ala858Pro)
n.3826G>C
n.4024G>C
2g.214990800C>TCA350468614ABCA12c.3526G>A (p.Ala1176Thr)
c.2572G>A (p.Ala858Thr)
n.3826G>A
n.4024G>A
 gnomAD v4
2g.214990801T>ACA431388057ABCA12c.3525A>T (p.Ala1175=)
c.2571A>T (p.Ala857=)
n.3825A>T
n.4023A>T
2g.214990801T>CCA431388056ABCA12c.3525A>G (p.Ala1175=)
c.2571A>G (p.Ala857=)
n.3825A>G
n.4023A>G
 gnomAD v4
2g.214990801T>GCA431388055ABCA12c.3525A>C (p.Ala1175=)
c.2571A>C (p.Ala857=)
n.3825A>C
n.4023A>C
2g.214990801_214990802insATGTATTGAAACA2572242644ABCA12c.3524_3525insTTTCAATACAT (p.Ala1176PhefsTer4)
c.2570_2571insTTTCAATACAT (p.Ala858PhefsTer4)
n.3824_3825insTTTCAATACAT
n.4022_4023insTTTCAATACAT
2g.214990802G>ACA350468621ABCA12c.3524C>T (p.Ala1175Val)
c.2570C>T (p.Ala857Val)
n.3824C>T
n.4022C>T
2g.214990802G>CCA350468623ABCA12c.3524C>G (p.Ala1175Gly)
c.2570C>G (p.Ala857Gly)
n.3824C>G
n.4022C>G
2g.214990802G>TCA350468629ABCA12c.3524C>A (p.Ala1175Glu)
c.2570C>A (p.Ala857Glu)
n.3824C>A
n.4022C>A
2g.214990803C>ACA350468638ABCA12c.3523G>T (p.Ala1175Ser)
c.2569G>T (p.Ala857Ser)
n.3823G>T
n.4021G>T
2g.214990803C>GCA350468639ABCA12c.3523G>C (p.Ala1175Pro)
c.2569G>C (p.Ala857Pro)
n.3823G>C
n.4021G>C
2g.214990803C>TCA350468646ABCA12c.3523G>A (p.Ala1175Thr)
c.2569G>A (p.Ala857Thr)
n.3823G>A
n.4021G>A
2g.214990804A=CA1327165356ABCA12c.3522T= (p.Ile1174=)
c.2568T= (p.Ile856=)
n.3822T=
n.4020T=
2g.214990804A>CCA350468649ABCA12c.3522T>G (p.Ile1174Met)
c.2568T>G (p.Ile856Met)
n.3822T>G
n.4020T>G
2g.214990804A>GCA2091719ABCA12c.3522T>C (p.Ile1174=)
c.2568T>C (p.Ile856=)
n.3822T>C
n.4020T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990804A>TCA431388060ABCA12c.3522T>A (p.Ile1174=)
c.2568T>A (p.Ile856=)
n.3822T>A
n.4020T>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214990805A=CA1327165357ABCA12c.3521T= (p.Ile1174=)
c.2567T= (p.Ile856=)
n.3821T=
n.4019T=
2g.214990805A>CCA350468651ABCA12c.3521T>G (p.Ile1174Ser)
c.2567T>G (p.Ile856Ser)
n.3821T>G
n.4019T>G
2g.214990805A>GCA2091720ABCA12c.3521T>C (p.Ile1174Thr)
c.2567T>C (p.Ile856Thr)
n.3821T>C
n.4019T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990805A>TCA350468656ABCA12c.3521T>A (p.Ile1174Asn)
c.2567T>A (p.Ile856Asn)
n.3821T>A
n.4019T>A
2g.214990806T>ACA350468659ABCA12c.3520A>T (p.Ile1174Phe)
c.2566A>T (p.Ile856Phe)
n.3820A>T
n.4018A>T
2g.214990806T>CCA350468663ABCA12c.3520A>G (p.Ile1174Val)
c.2566A>G (p.Ile856Val)
n.3820A>G
n.4018A>G
 dbSNP
2g.214990806T>GCA350468667ABCA12c.3520A>C (p.Ile1174Leu)
c.2566A>C (p.Ile856Leu)
n.3820A>C
n.4018A>C
2g.214990806T=CA1327165358ABCA12c.3520A= (p.Ile1174=)
c.2566A= (p.Ile856=)
n.3820A=
n.4018A=
2g.214990807G>ACA2091721ABCA12c.3519C>T (p.Asn1173=)
c.2565C>T (p.Asn855=)
n.3819C>T
n.4017C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214990807G>CCA350468672ABCA12c.3519C>G (p.Asn1173Lys)
c.2565C>G (p.Asn855Lys)
n.3819C>G
n.4017C>G
2g.214990807G=CA1327165359ABCA12c.3519C= (p.Asn1173=)
c.2565C= (p.Asn855=)
n.3819C=
n.4017C=
2g.214990807G>TCA350468670ABCA12c.3519C>A (p.Asn1173Lys)
c.2565C>A (p.Asn855Lys)
n.3819C>A
n.4017C>A
2g.214990808T>ACA350468680ABCA12c.3518A>T (p.Asn1173Ile)
c.2564A>T (p.Asn855Ile)
n.3818A>T
n.4016A>T
2g.214990808T>CCA350468682ABCA12c.3518A>G (p.Asn1173Ser)
c.2564A>G (p.Asn855Ser)
n.3818A>G
n.4016A>G
 dbSNP gnomAD v4
2g.214990808T>GCA350468683ABCA12c.3518A>C (p.Asn1173Thr)
c.2564A>C (p.Asn855Thr)
n.3818A>C
n.4016A>C
2g.214990808T=CA1327165360ABCA12c.3518A= (p.Asn1173=)
c.2564A= (p.Asn855=)
n.3818A=
n.4016A=
2g.214990808_214990809insACA431388066ABCA12c.3517_3518insT (p.Asn1173IlefsTer27)
c.2563_2564insT (p.Asn855IlefsTer27)
n.3817_3818insT
n.4015_4016insT
2g.214990809T>ACA350468685ABCA12c.3517A>T (p.Asn1173Tyr)
c.2563A>T (p.Asn855Tyr)
n.3817A>T
n.4015A>T
2g.214990809T>CCA350468688ABCA12c.3517A>G (p.Asn1173Asp)
c.2563A>G (p.Asn855Asp)
n.3817A>G
n.4015A>G
 dbSNP gnomAD v4
2g.214990809T>GCA350468694ABCA12c.3517A>C (p.Asn1173His)
c.2563A>C (p.Asn855His)
n.3817A>C
n.4015A>C
2g.214990809T=CA1327165361ABCA12c.3517A= (p.Asn1173=)
c.2563A= (p.Asn855=)
n.3817A=
n.4015A=
2g.214990810G>ACA431388067ABCA12c.3516C>T (p.Thr1172=)
c.2562C>T (p.Thr854=)
n.3816C>T
n.4014C>T
 ClinVar
2g.214990810G>CCA431388068ABCA12c.3516C>G (p.Thr1172=)
c.2562C>G (p.Thr854=)
n.3816C>G
n.4014C>G
2g.214990810G>TCA431388069ABCA12c.3516C>A (p.Thr1172=)
c.2562C>A (p.Thr854=)
n.3816C>A
n.4014C>A
 COSMIC COSMIC
2g.214990811G>ACA350468698ABCA12c.3515C>T (p.Thr1172Ile)
c.2561C>T (p.Thr854Ile)
n.3815C>T
n.4013C>T
2g.214990811G>CCA350468699ABCA12c.3515C>G (p.Thr1172Ser)
c.2561C>G (p.Thr854Ser)
n.3815C>G
n.4013C>G
2g.214990811G>TCA350468700ABCA12c.3515C>A (p.Thr1172Asn)
c.2561C>A (p.Thr854Asn)
n.3815C>A
n.4013C>A
2g.214990812T>ACA350468701ABCA12c.3514A>T (p.Thr1172Ser)
c.2560A>T (p.Thr854Ser)
n.3814A>T
n.4012A>T
2g.214990812T>CCA350468704ABCA12c.3514A>G (p.Thr1172Ala)
c.2560A>G (p.Thr854Ala)
n.3814A>G
n.4012A>G
2g.214990812T>GCA350468708ABCA12c.3514A>C (p.Thr1172Pro)
c.2560A>C (p.Thr854Pro)
n.3814A>C
n.4012A>C
2g.214990813G>ACA431388073ABCA12c.3513C>T (p.Asn1171=)
c.2559C>T (p.Asn853=)
n.3813C>T
n.4011C>T
 gnomAD v4
2g.214990813G>CCA350468711ABCA12c.3513C>G (p.Asn1171Lys)
c.2559C>G (p.Asn853Lys)
n.3813C>G
n.4011C>G
2g.214990813G>TCA350468712ABCA12c.3513C>A (p.Asn1171Lys)
c.2559C>A (p.Asn853Lys)
n.3813C>A
n.4011C>A
2g.214990814T>ACA350468715ABCA12c.3512A>T (p.Asn1171Ile)
c.2558A>T (p.Asn853Ile)
n.3812A>T
n.4010A>T
2g.214990814T>CCA350468720ABCA12c.3512A>G (p.Asn1171Ser)
c.2558A>G (p.Asn853Ser)
n.3812A>G
n.4010A>G
 gnomAD v4 COSMIC COSMIC
2g.214990814T>GCA350468722ABCA12c.3512A>C (p.Asn1171Thr)
c.2558A>C (p.Asn853Thr)
n.3812A>C
n.4010A>C
 dbSNP gnomAD v2 gnomAD v4
2g.214990814T=CA1327165362ABCA12c.3512A= (p.Asn1171=)
c.2558A= (p.Asn853=)
n.3812A=
n.4010A=
2g.214990815T>ACA350468724ABCA12c.3511A>T (p.Asn1171Tyr)
c.2557A>T (p.Asn853Tyr)
n.3811A>T
n.4009A>T
2g.214990815T>CCA350468727ABCA12c.3511A>G (p.Asn1171Asp)
c.2557A>G (p.Asn853Asp)
n.3811A>G
n.4009A>G
2g.214990815T>GCA350468730ABCA12c.3511A>C (p.Asn1171His)
c.2557A>C (p.Asn853His)
n.3811A>C
n.4009A>C
2g.214990816G>ACA431388078ABCA12c.3510C>T (p.Asn1170=)
c.2556C>T (p.Asn852=)
n.3810C>T
n.4008C>T
2g.214990816G>CCA350468736ABCA12c.3510C>G (p.Asn1170Lys)
c.2556C>G (p.Asn852Lys)
n.3810C>G
n.4008C>G
2g.214990816G>TCA350468740ABCA12c.3510C>A (p.Asn1170Lys)
c.2556C>A (p.Asn852Lys)
n.3810C>A
n.4008C>A
 gnomAD v4
2g.214990817T>ACA350468748ABCA12c.3509A>T (p.Asn1170Ile)
c.2555A>T (p.Asn852Ile)
n.3809A>T
n.4007A>T
2g.214990817T>CCA350468750ABCA12c.3509A>G (p.Asn1170Ser)
c.2555A>G (p.Asn852Ser)
n.3809A>G
n.4007A>G
 gnomAD v4
2g.214990817T>GCA350468752ABCA12c.3509A>C (p.Asn1170Thr)
c.2555A>C (p.Asn852Thr)
n.3809A>C
n.4007A>C
2g.214990818T>ACA350468757ABCA12c.3508A>T (p.Asn1170Tyr)
c.2554A>T (p.Asn852Tyr)
n.3808A>T
n.4006A>T
2g.214990818T>CCA350468767ABCA12c.3508A>G (p.Asn1170Asp)
c.2554A>G (p.Asn852Asp)
n.3808A>G
n.4006A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214990818T>GCA350468768ABCA12c.3508A>C (p.Asn1170His)
c.2554A>C (p.Asn852His)
n.3808A>C
n.4006A>C
2g.214990818T=CA1327165363ABCA12c.3508A= (p.Asn1170=)
c.2554A= (p.Asn852=)
n.3808A=
n.4006A=
2g.214990819G>ACA431388081ABCA12c.3507C>T (p.Phe1169=)
c.2553C>T (p.Phe851=)
n.3807C>T
n.4005C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.214990819G>CCA350468772ABCA12c.3507C>G (p.Phe1169Leu)
c.2553C>G (p.Phe851Leu)
n.3807C>G
n.4005C>G
2g.214990819G=CA1327165364ABCA12c.3507C= (p.Phe1169=)
c.2553C= (p.Phe851=)
n.3807C=
n.4005C=
2g.214990819G>TCA350468770ABCA12c.3507C>A (p.Phe1169Leu)
c.2553C>A (p.Phe851Leu)
n.3807C>A
n.4005C>A
2g.214990820A=CA1327165365ABCA12c.3506T= (p.Phe1169=)
c.2552T= (p.Phe851=)
n.3806T=
n.4004T=
2g.214990820A>CCA350468775ABCA12c.3506T>G (p.Phe1169Cys)
c.2552T>G (p.Phe851Cys)
n.3806T>G
n.4004T>G
 dbSNP
2g.214990820A>GCA350468778ABCA12c.3506T>C (p.Phe1169Ser)
c.2552T>C (p.Phe851Ser)
n.3806T>C
n.4004T>C
2g.214990820A>TCA350468780ABCA12c.3506T>A (p.Phe1169Tyr)
c.2552T>A (p.Phe851Tyr)
n.3806T>A
n.4004T>A
2g.214990821A>CCA350468782ABCA12c.3505T>G (p.Phe1169Val)
c.2551T>G (p.Phe851Val)
n.3805T>G
n.4003T>G
2g.214990821A>GCA350468784ABCA12c.3505T>C (p.Phe1169Leu)
c.2551T>C (p.Phe851Leu)
n.3805T>C
n.4003T>C
2g.214990821A>TCA350468786ABCA12c.3505T>A (p.Phe1169Ile)
c.2551T>A (p.Phe851Ile)
n.3805T>A
n.4003T>A
2g.214990822G>ACA431388085ABCA12c.3504C>T (p.Phe1168=)
c.2550C>T (p.Phe850=)
n.3804C>T
n.4002C>T
2g.214990822G>CCA350468795ABCA12c.3504C>G (p.Phe1168Leu)
c.2550C>G (p.Phe850Leu)
n.3804C>G
n.4002C>G
2g.214990822G>TCA350468791ABCA12c.3504C>A (p.Phe1168Leu)
c.2550C>A (p.Phe850Leu)
n.3804C>A
n.4002C>A
2g.214990823A>CCA350468798ABCA12c.3503T>G (p.Phe1168Cys)
c.2549T>G (p.Phe850Cys)
n.3803T>G
n.4001T>G
2g.214990823A>GCA350468800ABCA12c.3503T>C (p.Phe1168Ser)
c.2549T>C (p.Phe850Ser)
n.3803T>C
n.4001T>C
2g.214990823A>TCA350468811ABCA12c.3503T>A (p.Phe1168Tyr)
c.2549T>A (p.Phe850Tyr)
n.3803T>A
n.4001T>A
 dbSNP
2g.214990824A>CCA350468820ABCA12c.3502T>G (p.Phe1168Val)
c.2548T>G (p.Phe850Val)
n.3802T>G
n.4000T>G
2g.214990824A>GCA350468821ABCA12c.3502T>C (p.Phe1168Leu)
c.2548T>C (p.Phe850Leu)
n.3802T>C
n.4000T>C
2g.214990824A>TCA350468824ABCA12c.3502T>A (p.Phe1168Ile)
c.2548T>A (p.Phe850Ile)
n.3802T>A
n.4000T>A
2g.214990825G>ACA431388086ABCA12c.3501C>T (p.Val1167=)
c.2547C>T (p.Val849=)
n.3801C>T
n.3999C>T
2g.214990825G>CCA431388087ABCA12c.3501C>G (p.Val1167=)
c.2547C>G (p.Val849=)
n.3801C>G
n.3999C>G
2g.214990825G>TCA431388088ABCA12c.3501C>A (p.Val1167=)
c.2547C>A (p.Val849=)
n.3801C>A
n.3999C>A
2g.214990826A>CCA350468827ABCA12c.3500T>G (p.Val1167Gly)
c.2546T>G (p.Val849Gly)
n.3800T>G
n.3998T>G
2g.214990826A>GCA350468833ABCA12c.3500T>C (p.Val1167Ala)
c.2546T>C (p.Val849Ala)
n.3800T>C
n.3998T>C
2g.214990826A>TCA350468832ABCA12c.3500T>A (p.Val1167Asp)
c.2546T>A (p.Val849Asp)
n.3800T>A
n.3998T>A
2g.214990827C>ACA350468834ABCA12c.3499G>T (p.Val1167Phe)
c.2545G>T (p.Val849Phe)
n.3799G>T
n.3997G>T
2g.214990827C>GCA350468835ABCA12c.3499G>C (p.Val1167Leu)
c.2545G>C (p.Val849Leu)
n.3799G>C
n.3997G>C
2g.214990827C>TCA350468836ABCA12c.3499G>A (p.Val1167Ile)
c.2545G>A (p.Val849Ile)
n.3799G>A
n.3997G>A
 COSMIC COSMIC
2g.214990828A>CCA350468837ABCA12c.3498T>G (p.Ser1166Arg)
c.2544T>G (p.Ser848Arg)
n.3798T>G
n.3996T>G
2g.214990828A>GCA431388092ABCA12c.3498T>C (p.Ser1166=)
c.2544T>C (p.Ser848=)
n.3798T>C
n.3996T>C
2g.214990828A>TCA350468838ABCA12c.3498T>A (p.Ser1166Arg)
c.2544T>A (p.Ser848Arg)
n.3798T>A
n.3996T>A
2g.214990829C>ACA350468839ABCA12c.3497G>T (p.Ser1166Ile)
c.2543G>T (p.Ser848Ile)
n.3797G>T
n.3995G>T
2g.214990829C=CA1327165366ABCA12c.3497G= (p.Ser1166=)
c.2543G= (p.Ser848=)
n.3797G=
n.3995G=
2g.214990829C>GCA350468840ABCA12c.3497G>C (p.Ser1166Thr)
c.2543G>C (p.Ser848Thr)
n.3797G>C
n.3995G>C
 gnomAD v4
2g.214990829C>TCA350468841ABCA12c.3497G>A (p.Ser1166Asn)
c.2543G>A (p.Ser848Asn)
n.3797G>A
n.3995G>A
 dbSNP gnomAD v2 gnomAD v4
2g.214990830T>ACA350468842ABCA12c.3496A>T (p.Ser1166Cys)
c.2542A>T (p.Ser848Cys)
n.3796A>T
n.3994A>T
2g.214990830T>CCA2091722ABCA12c.3496A>G (p.Ser1166Gly)
c.2542A>G (p.Ser848Gly)
n.3796A>G
n.3994A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214990830T>GCA350468843ABCA12c.3496A>C (p.Ser1166Arg)
c.2542A>C (p.Ser848Arg)
n.3796A>C
n.3994A>C
2g.214990830T=CA1327165367ABCA12c.3496A= (p.Ser1166=)
c.2542A= (p.Ser848=)
n.3796A=
n.3994A=
2g.214990831G>ACA2091723ABCA12c.3495C>T (p.Ile1165=)
c.2541C>T (p.Ile847=)
n.3795C>T
n.3993C>T
 dbSNP ExAC gnomAD v4
2g.214990831G>CCA350468844ABCA12c.3495C>G (p.Ile1165Met)
c.2541C>G (p.Ile847Met)
n.3795C>G
n.3993C>G
2g.214990831G=CA1327165368ABCA12c.3495C= (p.Ile1165=)
c.2541C= (p.Ile847=)
n.3795C=
n.3993C=
2g.214990831G>TCA431388094ABCA12c.3495C>A (p.Ile1165=)
c.2541C>A (p.Ile847=)
n.3795C>A
n.3993C>A
2g.214990832A=CA1327165369ABCA12c.3494T= (p.Ile1165=)
c.2540T= (p.Ile847=)
n.3794T=
n.3992T=
2g.214990832A>CCA350468847ABCA12c.3494T>G (p.Ile1165Ser)
c.2540T>G (p.Ile847Ser)
n.3794T>G
n.3992T>G
2g.214990832A>GCA350468845ABCA12c.3494T>C (p.Ile1165Thr)
c.2540T>C (p.Ile847Thr)
n.3794T>C
n.3992T>C
 dbSNP gnomAD v2 gnomAD v4
2g.214990832A>TCA350468846ABCA12c.3494T>A (p.Ile1165Asn)
c.2540T>A (p.Ile847Asn)
n.3794T>A
n.3992T>A
 gnomAD v4
2g.214990833T>ACA350468848ABCA12c.3493A>T (p.Ile1165Phe)
c.2539A>T (p.Ile847Phe)
n.3793A>T
n.3991A>T
2g.214990833T>CCA350468849ABCA12c.3493A>G (p.Ile1165Val)
c.2539A>G (p.Ile847Val)
n.3793A>G
n.3991A>G
 dbSNP gnomAD v3 gnomAD v4
2g.214990833T>GCA350468850ABCA12c.3493A>C (p.Ile1165Leu)
c.2539A>C (p.Ile847Leu)
n.3793A>C
n.3991A>C
2g.214990833T=CA1327165370ABCA12c.3493A= (p.Ile1165=)
c.2539A= (p.Ile847=)
n.3793A=
n.3991A=
2g.214990834A>CCA431388095ABCA12c.3492T>G (p.Leu1164=)
c.2538T>G (p.Leu846=)
n.3792T>G
n.3990T>G
2g.214990834A>GCA431388096ABCA12c.3492T>C (p.Leu1164=)
c.2538T>C (p.Leu846=)
n.3792T>C
n.3990T>C
 gnomAD v4
2g.214990834A>TCA431388098ABCA12c.3492T>A (p.Leu1164=)
c.2538T>A (p.Leu846=)
n.3792T>A
n.3990T>A
2g.214990835_214990853delCA2662978894ABCA12c.3474_3492del (p.Ile1159SerfsTer13)
c.2520_2538del (p.Ile841SerfsTer13)
n.3774_3792del
n.3972_3990del
 gnomAD v4
2g.214990835A>CCA350468851ABCA12c.3491T>G (p.Leu1164Arg)
c.2537T>G (p.Leu846Arg)
n.3791T>G
n.3989T>G
2g.214990835A>GCA350468852ABCA12c.3491T>C (p.Leu1164Pro)
c.2537T>C (p.Leu846Pro)
n.3791T>C
n.3989T>C
2g.214990835A>TCA350468853ABCA12c.3491T>A (p.Leu1164His)
c.2537T>A (p.Leu846His)
n.3791T>A
n.3989T>A
2g.214990836G>ACA350468854ABCA12c.3490C>T (p.Leu1164Phe)
c.2536C>T (p.Leu846Phe)
n.3790C>T
n.3988C>T
2g.214990836G>CCA350468855ABCA12c.3490C>G (p.Leu1164Val)
c.2536C>G (p.Leu846Val)
n.3790C>G
n.3988C>G
2g.214990836G>TCA350468856ABCA12c.3490C>A (p.Leu1164Ile)
c.2536C>A (p.Leu846Ile)
n.3790C>A
n.3988C>A
2g.214990837A>CCA350468857ABCA12c.3489T>G (p.Tyr1163Ter)
c.2535T>G (p.Tyr845Ter)
n.3789T>G
n.3987T>G
2g.214990837A>GCA431388101ABCA12c.3489T>C (p.Tyr1163=)
c.2535T>C (p.Tyr845=)
n.3789T>C
n.3987T>C
2g.214990837A>TCA350468858ABCA12c.3489T>A (p.Tyr1163Ter)
c.2535T>A (p.Tyr845Ter)
n.3789T>A
n.3987T>A
2g.214990838T>ACA350468859ABCA12c.3488A>T (p.Tyr1163Phe)
c.2534A>T (p.Tyr845Phe)
n.3788A>T
n.3986A>T
 ClinVar gnomAD v4
2g.214990838T>CCA2091724ABCA12c.3488A>G (p.Tyr1163Cys)
c.2534A>G (p.Tyr845Cys)
n.3788A>G
n.3986A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990838T>GCA350468860ABCA12c.3488A>C (p.Tyr1163Ser)
c.2534A>C (p.Tyr845Ser)
n.3788A>C
n.3986A>C
 gnomAD v4
2g.214990838T=CA1327165371ABCA12c.3488A= (p.Tyr1163=)
c.2534A= (p.Tyr845=)
n.3788A=
n.3986A=
2g.214990839A>CCA350468861ABCA12c.3487T>G (p.Tyr1163Asp)
c.2533T>G (p.Tyr845Asp)
n.3787T>G
n.3985T>G
2g.214990839A>GCA350468863ABCA12c.3487T>C (p.Tyr1163His)
c.2533T>C (p.Tyr845His)
n.3787T>C
n.3985T>C
 COSMIC COSMIC
2g.214990839A>TCA350468862ABCA12c.3487T>A (p.Tyr1163Asn)
c.2533T>A (p.Tyr845Asn)
n.3787T>A
n.3985T>A
2g.214990840G>ACA431388103ABCA12c.3486C>T (p.Ser1162=)
c.2532C>T (p.Ser844=)
n.3786C>T
n.3984C>T
 dbSNP
2g.214990840G>CCA350468864ABCA12c.3486C>G (p.Ser1162Arg)
c.2532C>G (p.Ser844Arg)
n.3786C>G
n.3984C>G
2g.214990840G=CA1327165372ABCA12c.3486C= (p.Ser1162=)
c.2532C= (p.Ser844=)
n.3786C=
n.3984C=
2g.214990840G>TCA350468865ABCA12c.3486C>A (p.Ser1162Arg)
c.2532C>A (p.Ser844Arg)
n.3786C>A
n.3984C>A
2g.214990841C>ACA350468866ABCA12c.3485G>T (p.Ser1162Ile)
c.2531G>T (p.Ser844Ile)
n.3785G>T
n.3983G>T
2g.214990841C>GCA350468867ABCA12c.3485G>C (p.Ser1162Thr)
c.2531G>C (p.Ser844Thr)
n.3785G>C
n.3983G>C
2g.214990841C>TCA350468868ABCA12c.3485G>A (p.Ser1162Asn)
c.2531G>A (p.Ser844Asn)
n.3785G>A
n.3983G>A
2g.214990842T>ACA350468869ABCA12c.3484A>T (p.Ser1162Cys)
c.2530A>T (p.Ser844Cys)
n.3784A>T
n.3982A>T
2g.214990842T>CCA350468870ABCA12c.3484A>G (p.Ser1162Gly)
c.2530A>G (p.Ser844Gly)
n.3784A>G
n.3982A>G
 dbSNP gnomAD v2 gnomAD v4
2g.214990842T>GCA350468871ABCA12c.3484A>C (p.Ser1162Arg)
c.2530A>C (p.Ser844Arg)
n.3784A>C
n.3982A>C
2g.214990842T=CA1327165373ABCA12c.3484A= (p.Ser1162=)
c.2530A= (p.Ser844=)
n.3784A=
n.3982A=
2g.214990843C>ACA350468872ABCA12c.3483G>T (p.Met1161Ile)
c.2529G>T (p.Met843Ile)
n.3783G>T
n.3981G>T
2g.214990843C=CA1327165374ABCA12c.3483G= (p.Met1161=)
c.2529G= (p.Met843=)
n.3783G=
n.3981G=
2g.214990843C>GCA350468873ABCA12c.3483G>C (p.Met1161Ile)
c.2529G>C (p.Met843Ile)
n.3783G>C
n.3981G>C
2g.214990843C>TCA2091725ABCA12c.3483G>A (p.Met1161Ile)
c.2529G>A (p.Met843Ile)
n.3783G>A
n.3981G>A
 dbSNP ExAC gnomAD v2
2g.214990844A>CCA350468874ABCA12c.3482T>G (p.Met1161Arg)
c.2528T>G (p.Met843Arg)
n.3782T>G
n.3980T>G
 gnomAD v4
2g.214990844A>GCA350468875ABCA12c.3482T>C (p.Met1161Thr)
c.2528T>C (p.Met843Thr)
n.3782T>C
n.3980T>C
2g.214990844A>TCA350468876ABCA12c.3482T>A (p.Met1161Lys)
c.2528T>A (p.Met843Lys)
n.3782T>A
n.3980T>A

Number of alleles fetched