Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.214990835_214990853delCA2662978894ABCA12c.3474_3492del (p.Ile1159SerfsTer13)
c.2520_2538del (p.Ile841SerfsTer13)
n.3774_3792del
n.3972_3990del
 gnomAD v4
2g.214990845_214990945delCA913089815ABCA12c.3381_3481del (p.Ile1128GlufsTer?)
c.2427_2527del (p.Ile810GlufsTer?)
n.3681_3781del
n.3879_3979del
 ClinVar
2g.214990849A>CCA350468893ABCA12c.3477T>G (p.Ile1159Met)
c.2523T>G (p.Ile841Met)
n.3777T>G
n.3975T>G
2g.214990849A>GCA431388114ABCA12c.3477T>C (p.Ile1159=)
c.2523T>C (p.Ile841=)
n.3777T>C
n.3975T>C
2g.214990849A>TCA431388112ABCA12c.3477T>A (p.Ile1159=)
c.2523T>A (p.Ile841=)
n.3777T>A
n.3975T>A
2g.214990850A>CCA350468895ABCA12c.3476T>G (p.Ile1159Ser)
c.2522T>G (p.Ile841Ser)
n.3776T>G
n.3974T>G
2g.214990850A>GCA350468898ABCA12c.3476T>C (p.Ile1159Thr)
c.2522T>C (p.Ile841Thr)
n.3776T>C
n.3974T>C
2g.214990850A>TCA350468899ABCA12c.3476T>A (p.Ile1159Asn)
c.2522T>A (p.Ile841Asn)
n.3776T>A
n.3974T>A
2g.214990851T>ACA350468903ABCA12c.3475A>T (p.Ile1159Phe)
c.2521A>T (p.Ile841Phe)
n.3775A>T
n.3973A>T
2g.214990851T>CCA350468904ABCA12c.3475A>G (p.Ile1159Val)
c.2521A>G (p.Ile841Val)
n.3775A>G
n.3973A>G
 gnomAD v4
2g.214990851T>GCA350468906ABCA12c.3475A>C (p.Ile1159Leu)
c.2521A>C (p.Ile841Leu)
n.3775A>C
n.3973A>C
2g.214990852A>CCA431388116ABCA12c.3474T>G (p.Val1158=)
c.2520T>G (p.Val840=)
n.3774T>G
n.3972T>G
2g.214990852A>GCA431388117ABCA12c.3474T>C (p.Val1158=)
c.2520T>C (p.Val840=)
n.3774T>C
n.3972T>C
2g.214990852A>TCA431388118ABCA12c.3474T>A (p.Val1158=)
c.2520T>A (p.Val840=)
n.3774T>A
n.3972T>A
2g.214990853A>CCA350468911ABCA12c.3473T>G (p.Val1158Gly)
c.2519T>G (p.Val840Gly)
n.3773T>G
n.3971T>G
2g.214990853A>GCA350468912ABCA12c.3473T>C (p.Val1158Ala)
c.2519T>C (p.Val840Ala)
n.3773T>C
n.3971T>C
2g.214990853A>TCA350468910ABCA12c.3473T>A (p.Val1158Asp)
c.2519T>A (p.Val840Asp)
n.3773T>A
n.3971T>A
2g.214990854C>ACA350468916ABCA12c.3472G>T (p.Val1158Phe)
c.2518G>T (p.Val840Phe)
n.3772G>T
n.3970G>T
2g.214990854C>GCA350468917ABCA12c.3472G>C (p.Val1158Leu)
c.2518G>C (p.Val840Leu)
n.3772G>C
n.3970G>C
2g.214990854C>TCA350468919ABCA12c.3472G>A (p.Val1158Ile)
c.2518G>A (p.Val840Ile)
n.3772G>A
n.3970G>A
2g.214990855C>ACA431388120ABCA12c.3471G>T (p.Ser1157=)
c.2517G>T (p.Ser839=)
n.3771G>T
n.3969G>T
2g.214990855C=CA1327165379ABCA12c.3471G= (p.Ser1157=)
c.2517G= (p.Ser839=)
n.3771G=
n.3969G=
2g.214990855C>GCA431388121ABCA12c.3471G>C (p.Ser1157=)
c.2517G>C (p.Ser839=)
n.3771G>C
n.3969G>C
2g.214990855C>TCA2091727ABCA12c.3471G>A (p.Ser1157=)
c.2517G>A (p.Ser839=)
n.3771G>A
n.3969G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990856G>ACA2091728ABCA12c.3470C>T (p.Ser1157Leu)
c.2516C>T (p.Ser839Leu)
n.3770C>T
n.3968C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990856G>CCA350468922ABCA12c.3470C>G (p.Ser1157Trp)
c.2516C>G (p.Ser839Trp)
n.3770C>G
n.3968C>G
2g.214990856G=CA1327165380ABCA12c.3470C= (p.Ser1157=)
c.2516C= (p.Ser839=)
n.3770C=
n.3968C=
2g.214990856G>TCA350468924ABCA12c.3470C>A (p.Ser1157Ter)
c.2516C>A (p.Ser839Ter)
n.3770C>A
n.3968C>A
2g.214990857A>CCA350468927ABCA12c.3469T>G (p.Ser1157Ala)
c.2515T>G (p.Ser839Ala)
n.3769T>G
n.3967T>G
2g.214990857A>GCA350468929ABCA12c.3469T>C (p.Ser1157Pro)
c.2515T>C (p.Ser839Pro)
n.3769T>C
n.3967T>C
2g.214990857A>TCA350468931ABCA12c.3469T>A (p.Ser1157Thr)
c.2515T>A (p.Ser839Thr)
n.3769T>A
n.3967T>A
2g.214990858G>ACA431388123ABCA12c.3468C>T (p.Phe1156=)
c.2514C>T (p.Phe838=)
n.3768C>T
n.3966C>T
2g.214990858G>CCA350468933ABCA12c.3468C>G (p.Phe1156Leu)
c.2514C>G (p.Phe838Leu)
n.3768C>G
n.3966C>G
2g.214990858G>TCA350468935ABCA12c.3468C>A (p.Phe1156Leu)
c.2514C>A (p.Phe838Leu)
n.3768C>A
n.3966C>A
2g.214990859A>CCA350468941ABCA12c.3467T>G (p.Phe1156Cys)
c.2513T>G (p.Phe838Cys)
n.3767T>G
n.3965T>G
 gnomAD v4
2g.214990859A>GCA350468937ABCA12c.3467T>C (p.Phe1156Ser)
c.2513T>C (p.Phe838Ser)
n.3767T>C
n.3965T>C
2g.214990859A>TCA350468939ABCA12c.3467T>A (p.Phe1156Tyr)
c.2513T>A (p.Phe838Tyr)
n.3767T>A
n.3965T>A
2g.214990860A=CA1327165381ABCA12c.3466T= (p.Phe1156=)
c.2512T= (p.Phe838=)
n.3766T=
n.3964T=
2g.214990860A>CCA350468943ABCA12c.3466T>G (p.Phe1156Val)
c.2512T>G (p.Phe838Val)
n.3766T>G
n.3964T>G
 COSMIC
2g.214990860A>GCA2091729ABCA12c.3466T>C (p.Phe1156Leu)
c.2512T>C (p.Phe838Leu)
n.3766T>C
n.3964T>C
 dbSNP ExAC
2g.214990860A>TCA350468945ABCA12c.3466T>A (p.Phe1156Ile)
c.2512T>A (p.Phe838Ile)
n.3766T>A
n.3964T>A
2g.214990861G>ACA431388127ABCA12c.3465C>T (p.Ser1155=)
c.2511C>T (p.Ser837=)
n.3765C>T
n.3963C>T
2g.214990861G>CCA350468947ABCA12c.3465C>G (p.Ser1155Arg)
c.2511C>G (p.Ser837Arg)
n.3765C>G
n.3963C>G
2g.214990861G>TCA350468948ABCA12c.3465C>A (p.Ser1155Arg)
c.2511C>A (p.Ser837Arg)
n.3765C>A
n.3963C>A
2g.214990862C>ACA350468950ABCA12c.3464G>T (p.Ser1155Ile)
c.2510G>T (p.Ser837Ile)
n.3764G>T
n.3962G>T
2g.214990862C=CA1327165382ABCA12c.3464G= (p.Ser1155=)
c.2510G= (p.Ser837=)
n.3764G=
n.3962G=
2g.214990862C>GCA350468953ABCA12c.3464G>C (p.Ser1155Thr)
c.2510G>C (p.Ser837Thr)
n.3764G>C
n.3962G>C
2g.214990862C>TCA350468956ABCA12c.3464G>A (p.Ser1155Asn)
c.2510G>A (p.Ser837Asn)
n.3764G>A
n.3962G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214990863T>ACA350468969ABCA12c.3463A>T (p.Ser1155Cys)
c.2509A>T (p.Ser837Cys)
n.3763A>T
n.3961A>T
2g.214990863T>CCA350468971ABCA12c.3463A>G (p.Ser1155Gly)
c.2509A>G (p.Ser837Gly)
n.3763A>G
n.3961A>G
2g.214990863T>GCA350468974ABCA12c.3463A>C (p.Ser1155Arg)
c.2509A>C (p.Ser837Arg)
n.3763A>C
n.3961A>C
2g.214990864G>ACA431388133ABCA12c.3462C>T (p.Tyr1154=)
c.2508C>T (p.Tyr836=)
n.3762C>T
n.3960C>T
 gnomAD v4
2g.214990864G>CCA350468982ABCA12c.3462C>G (p.Tyr1154Ter)
c.2508C>G (p.Tyr836Ter)
n.3762C>G
n.3960C>G
2g.214990864G>TCA350468980ABCA12c.3462C>A (p.Tyr1154Ter)
c.2508C>A (p.Tyr836Ter)
n.3762C>A
n.3960C>A
2g.214990865T>ACA350468986ABCA12c.3461A>T (p.Tyr1154Phe)
c.2507A>T (p.Tyr836Phe)
n.3761A>T
n.3959A>T
2g.214990865T>CCA350468989ABCA12c.3461A>G (p.Tyr1154Cys)
c.2507A>G (p.Tyr836Cys)
n.3761A>G
n.3959A>G
2g.214990865T>GCA350468992ABCA12c.3461A>C (p.Tyr1154Ser)
c.2507A>C (p.Tyr836Ser)
n.3761A>C
n.3959A>C
2g.214990866A>CCA350468995ABCA12c.3460T>G (p.Tyr1154Asp)
c.2506T>G (p.Tyr836Asp)
n.3760T>G
n.3958T>G
2g.214990866A>GCA350468997ABCA12c.3460T>C (p.Tyr1154His)
c.2506T>C (p.Tyr836His)
n.3760T>C
n.3958T>C
2g.214990866A>TCA350469000ABCA12c.3460T>A (p.Tyr1154Asn)
c.2506T>A (p.Tyr836Asn)
n.3760T>A
n.3958T>A
2g.214990867G>ACA431388135ABCA12c.3459C>T (p.Asp1153=)
c.2505C>T (p.Asp835=)
n.3759C>T
n.3957C>T
2g.214990867G>CCA350469006ABCA12c.3459C>G (p.Asp1153Glu)
c.2505C>G (p.Asp835Glu)
n.3759C>G
n.3957C>G
2g.214990867G>TCA350469003ABCA12c.3459C>A (p.Asp1153Glu)
c.2505C>A (p.Asp835Glu)
n.3759C>A
n.3957C>A
2g.214990868T>ACA350469010ABCA12c.3458A>T (p.Asp1153Val)
c.2504A>T (p.Asp835Val)
n.3758A>T
n.3956A>T
2g.214990868T>CCA350469012ABCA12c.3458A>G (p.Asp1153Gly)
c.2504A>G (p.Asp835Gly)
n.3758A>G
n.3956A>G
2g.214990868T>GCA350469016ABCA12c.3458A>C (p.Asp1153Ala)
c.2504A>C (p.Asp835Ala)
n.3758A>C
n.3956A>C
2g.214990869C>ACA350469020ABCA12c.3457G>T (p.Asp1153Tyr)
c.2503G>T (p.Asp835Tyr)
n.3757G>T
n.3955G>T
2g.214990869C>GCA350469022ABCA12c.3457G>C (p.Asp1153His)
c.2503G>C (p.Asp835His)
n.3757G>C
n.3955G>C
2g.214990869C>TCA350469027ABCA12c.3457G>A (p.Asp1153Asn)
c.2503G>A (p.Asp835Asn)
n.3757G>A
n.3955G>A
2g.214990870C>ACA431388140ABCA12c.3456G>T (p.Ser1152=)
c.2502G>T (p.Ser834=)
n.3756G>T
n.3954G>T
2g.214990870C=CA1327165383ABCA12c.3456G= (p.Ser1152=)
c.2502G= (p.Ser834=)
n.3756G=
n.3954G=
2g.214990870C>GCA431388142ABCA12c.3456G>C (p.Ser1152=)
c.2502G>C (p.Ser834=)
n.3756G>C
n.3954G>C
2g.214990870C>TCA431388141ABCA12c.3456G>A (p.Ser1152=)
c.2502G>A (p.Ser834=)
n.3756G>A
n.3954G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.214990871G>ACA2091730ABCA12c.3455C>T (p.Ser1152Leu)
c.2501C>T (p.Ser834Leu)
n.3755C>T
n.3953C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.214990871G>CCA350469032ABCA12c.3455C>G (p.Ser1152Trp)
c.2501C>G (p.Ser834Trp)
n.3755C>G
n.3953C>G
2g.214990871G=CA1327165384ABCA12c.3455C= (p.Ser1152=)
c.2501C= (p.Ser834=)
n.3755C=
n.3953C=
2g.214990871G>TCA350469035ABCA12c.3455C>A (p.Ser1152Ter)
c.2501C>A (p.Ser834Ter)
n.3755C>A
n.3953C>A
2g.214990872A>CCA350469042ABCA12c.3454T>G (p.Ser1152Ala)
c.2500T>G (p.Ser834Ala)
n.3754T>G
n.3952T>G
2g.214990872A>GCA350469044ABCA12c.3454T>C (p.Ser1152Pro)
c.2500T>C (p.Ser834Pro)
n.3754T>C
n.3952T>C
2g.214990872A>TCA350469048ABCA12c.3454T>A (p.Ser1152Thr)
c.2500T>A (p.Ser834Thr)
n.3754T>A
n.3952T>A
2g.214990873A>CCA350469053ABCA12c.3453T>G (p.Phe1151Leu)
c.2499T>G (p.Phe833Leu)
n.3753T>G
n.3951T>G
2g.214990873A>GCA431388147ABCA12c.3453T>C (p.Phe1151=)
c.2499T>C (p.Phe833=)
n.3753T>C
n.3951T>C
2g.214990873A>TCA350469056ABCA12c.3453T>A (p.Phe1151Leu)
c.2499T>A (p.Phe833Leu)
n.3753T>A
n.3951T>A
2g.214990874A=CA1327165385ABCA12c.3452T= (p.Phe1151=)
c.2498T= (p.Phe833=)
n.3752T=
n.3950T=
2g.214990874A>CCA350469060ABCA12c.3452T>G (p.Phe1151Cys)
c.2498T>G (p.Phe833Cys)
n.3752T>G
n.3950T>G
 dbSNP
2g.214990874A>GCA350469063ABCA12c.3452T>C (p.Phe1151Ser)
c.2498T>C (p.Phe833Ser)
n.3752T>C
n.3950T>C
2g.214990874A>TCA2091731ABCA12c.3452T>A (p.Phe1151Tyr)
c.2498T>A (p.Phe833Tyr)
n.3752T>A
n.3950T>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.214990875A>CCA350469071ABCA12c.3451T>G (p.Phe1151Val)
c.2497T>G (p.Phe833Val)
n.3751T>G
n.3949T>G
2g.214990875A>GCA350469074ABCA12c.3451T>C (p.Phe1151Leu)
c.2497T>C (p.Phe833Leu)
n.3751T>C
n.3949T>C
2g.214990875A>TCA350469078ABCA12c.3451T>A (p.Phe1151Ile)
c.2497T>A (p.Phe833Ile)
n.3751T>A
n.3949T>A
2g.214990876A>CCA350469082ABCA12c.3450T>G (p.Tyr1150Ter)
c.2496T>G (p.Tyr832Ter)
n.3750T>G
n.3948T>G
 gnomAD v4 COSMIC COSMIC
2g.214990876A>GCA431388149ABCA12c.3450T>C (p.Tyr1150=)
c.2496T>C (p.Tyr832=)
n.3750T>C
n.3948T>C
 ClinVar gnomAD v4
2g.214990876A>TCA350469084ABCA12c.3450T>A (p.Tyr1150Ter)
c.2496T>A (p.Tyr832Ter)
n.3750T>A
n.3948T>A
2g.214990877T>ACA350469087ABCA12c.3449A>T (p.Tyr1150Phe)
c.2495A>T (p.Tyr832Phe)
n.3749A>T
n.3947A>T
2g.214990877T>CCA2091732ABCA12c.3449A>G (p.Tyr1150Cys)
c.2495A>G (p.Tyr832Cys)
n.3749A>G
n.3947A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214990877T>GCA350469089ABCA12c.3449A>C (p.Tyr1150Ser)
c.2495A>C (p.Tyr832Ser)
n.3749A>C
n.3947A>C
2g.214990877T=CA1327165386ABCA12c.3449A= (p.Tyr1150=)
c.2495A= (p.Tyr832=)
n.3749A=
n.3947A=
2g.214990878A>CCA350469093ABCA12c.3448T>G (p.Tyr1150Asp)
c.2494T>G (p.Tyr832Asp)
n.3748T>G
n.3946T>G
2g.214990878A>GCA350469094ABCA12c.3448T>C (p.Tyr1150His)
c.2494T>C (p.Tyr832His)
n.3748T>C
n.3946T>C
2g.214990878A>TCA350469096ABCA12c.3448T>A (p.Tyr1150Asn)
c.2494T>A (p.Tyr832Asn)
n.3748T>A
n.3946T>A
2g.214990879C>ACA431388152ABCA12c.3447G>T (p.Leu1149=)
c.2493G>T (p.Leu831=)
n.3747G>T
n.3945G>T
 gnomAD v4
2g.214990879C=CA1327165387ABCA12c.3447G= (p.Leu1149=)
c.2493G= (p.Leu831=)
n.3747G=
n.3945G=
2g.214990879C>GCA2091734ABCA12c.3447G>C (p.Leu1149=)
c.2493G>C (p.Leu831=)
n.3747G>C
n.3945G>C
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.214990879C>TCA2091733ABCA12c.3447G>A (p.Leu1149=)
c.2493G>A (p.Leu831=)
n.3747G>A
n.3945G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990880A=CA1327165388ABCA12c.3446T= (p.Leu1149=)
c.2492T= (p.Leu831=)
n.3746T=
n.3944T=
2g.214990880A>CCA350469101ABCA12c.3446T>G (p.Leu1149Arg)
c.2492T>G (p.Leu831Arg)
n.3746T>G
n.3944T>G
2g.214990880A>GCA350469103ABCA12c.3446T>C (p.Leu1149Pro)
c.2492T>C (p.Leu831Pro)
n.3746T>C
n.3944T>C
 ClinVar dbSNP
2g.214990880A>TCA350469105ABCA12c.3446T>A (p.Leu1149Gln)
c.2492T>A (p.Leu831Gln)
n.3746T>A
n.3944T>A
2g.214990881G>ACA431388153ABCA12c.3445C>T (p.Leu1149=)
c.2491C>T (p.Leu831=)
n.3745C>T
n.3943C>T
2g.214990881G>CCA350469107ABCA12c.3445C>G (p.Leu1149Val)
c.2491C>G (p.Leu831Val)
n.3745C>G
n.3943C>G
2g.214990881G>TCA350469109ABCA12c.3445C>A (p.Leu1149Met)
c.2491C>A (p.Leu831Met)
n.3745C>A
n.3943C>A
2g.214990882G>ACA431388155ABCA12c.3444C>T (p.Phe1148=)
c.2490C>T (p.Phe830=)
n.3744C>T
n.3942C>T
 dbSNP gnomAD v2 gnomAD v4
2g.214990882G>CCA350469110ABCA12c.3444C>G (p.Phe1148Leu)
c.2490C>G (p.Phe830Leu)
n.3744C>G
n.3942C>G
2g.214990882G=CA1327165389ABCA12c.3444C= (p.Phe1148=)
c.2490C= (p.Phe830=)
n.3744C=
n.3942C=
2g.214990882G>TCA350469111ABCA12c.3444C>A (p.Phe1148Leu)
c.2490C>A (p.Phe830Leu)
n.3744C>A
n.3942C>A
2g.214990883A>CCA350469117ABCA12c.3443T>G (p.Phe1148Cys)
c.2489T>G (p.Phe830Cys)
n.3743T>G
n.3941T>G
2g.214990883A>GCA350469113ABCA12c.3443T>C (p.Phe1148Ser)
c.2489T>C (p.Phe830Ser)
n.3743T>C
n.3941T>C
2g.214990883A>TCA350469116ABCA12c.3443T>A (p.Phe1148Tyr)
c.2489T>A (p.Phe830Tyr)
n.3743T>A
n.3941T>A
2g.214990884A>CCA350469120ABCA12c.3442T>G (p.Phe1148Val)
c.2488T>G (p.Phe830Val)
n.3742T>G
n.3940T>G
2g.214990884A>GCA350469122ABCA12c.3442T>C (p.Phe1148Leu)
c.2488T>C (p.Phe830Leu)
n.3742T>C
n.3940T>C
2g.214990884A>TCA350469124ABCA12c.3442T>A (p.Phe1148Ile)
c.2488T>A (p.Phe830Ile)
n.3742T>A
n.3940T>A
2g.214990885delCA2662978895ABCA12c.3441del (p.Leu1147PhefsTer15)
c.2487del (p.Leu829PhefsTer15)
n.3741del
n.3939del
 gnomAD v4
2g.214990885C>ACA350469127ABCA12c.3441G>T (p.Leu1147Phe)
c.2487G>T (p.Leu829Phe)
n.3741G>T
n.3939G>T
 gnomAD v4
2g.214990885C=CA1327165390ABCA12c.3441G= (p.Leu1147=)
c.2487G= (p.Leu829=)
n.3741G=
n.3939G=
2g.214990885C>GCA350469128ABCA12c.3441G>C (p.Leu1147Phe)
c.2487G>C (p.Leu829Phe)
n.3741G>C
n.3939G>C
2g.214990885C>TCA64827722ABCA12c.3441G>A (p.Leu1147=)
c.2487G>A (p.Leu829=)
n.3741G>A
n.3939G>A
 dbSNP gnomAD v2 gnomAD v4
2g.214990885_214990886delinsCACA1327165391ABCA12c.3440_3441delinsTG (p.Leu1147=)
c.2486_2487delinsTG (p.Leu829=)
n.3740_3741delinsTG
n.3938_3939delinsTG
2g.214990886A>CCA350469132ABCA12c.3440T>G (p.Leu1147Trp)
c.2486T>G (p.Leu829Trp)
n.3740T>G
n.3938T>G
2g.214990886A>GCA350469135ABCA12c.3440T>C (p.Leu1147Ser)
c.2486T>C (p.Leu829Ser)
n.3740T>C
n.3938T>C
2g.214990886A>TCA350469137ABCA12c.3440T>A (p.Leu1147Ter)
c.2486T>A (p.Leu829Ter)
n.3740T>A
n.3938T>A
2g.214990889delCA539837472ABCA12c.3440del (p.Leu1147CysfsTer15)
c.2486del (p.Leu829CysfsTer15)
n.3740del
n.3938del
 dbSNP gnomAD v2 gnomAD v4
2g.214990887A>CCA350469140ABCA12c.3439T>G (p.Leu1147Val)
c.2485T>G (p.Leu829Val)
n.3739T>G
n.3937T>G
2g.214990887A>GCA431388162ABCA12c.3439T>C (p.Leu1147=)
c.2485T>C (p.Leu829=)
n.3739T>C
n.3937T>C
2g.214990887A>TCA350469141ABCA12c.3439T>A (p.Leu1147Met)
c.2485T>A (p.Leu829Met)
n.3739T>A
n.3937T>A
2g.214990888A>CCA350469142ABCA12c.3438T>G (p.Ile1146Met)
c.2484T>G (p.Ile828Met)
n.3738T>G
n.3936T>G
2g.214990888A>GCA431388166ABCA12c.3438T>C (p.Ile1146=)
c.2484T>C (p.Ile828=)
n.3738T>C
n.3936T>C
2g.214990888A>TCA431388168ABCA12c.3438T>A (p.Ile1146=)
c.2484T>A (p.Ile828=)
n.3738T>A
n.3936T>A
2g.214990889A>CCA350469147ABCA12c.3437T>G (p.Ile1146Ser)
c.2483T>G (p.Ile828Ser)
n.3737T>G
n.3935T>G
2g.214990889A>GCA350469148ABCA12c.3437T>C (p.Ile1146Thr)
c.2483T>C (p.Ile828Thr)
n.3737T>C
n.3935T>C
2g.214990889A>TCA350469145ABCA12c.3437T>A (p.Ile1146Asn)
c.2483T>A (p.Ile828Asn)
n.3737T>A
n.3935T>A
2g.214990890T>ACA350469151ABCA12c.3436A>T (p.Ile1146Phe)
c.2482A>T (p.Ile828Phe)
n.3736A>T
n.3934A>T
2g.214990890T>CCA350469149ABCA12c.3436A>G (p.Ile1146Val)
c.2482A>G (p.Ile828Val)
n.3736A>G
n.3934A>G
2g.214990890T>GCA350469153ABCA12c.3436A>C (p.Ile1146Leu)
c.2482A>C (p.Ile828Leu)
n.3736A>C
n.3934A>C
2g.214990891G>ACA431388173ABCA12c.3435C>T (p.Phe1145=)
c.2481C>T (p.Phe827=)
n.3735C>T
n.3933C>T
2g.214990891G>CCA350469156ABCA12c.3435C>G (p.Phe1145Leu)
c.2481C>G (p.Phe827Leu)
n.3735C>G
n.3933C>G
2g.214990891G>TCA350469158ABCA12c.3435C>A (p.Phe1145Leu)
c.2481C>A (p.Phe827Leu)
n.3735C>A
n.3933C>A
 gnomAD v4
2g.214990892A>CCA350469160ABCA12c.3434T>G (p.Phe1145Cys)
c.2480T>G (p.Phe827Cys)
n.3734T>G
n.3932T>G
2g.214990892A>GCA350469162ABCA12c.3434T>C (p.Phe1145Ser)
c.2480T>C (p.Phe827Ser)
n.3734T>C
n.3932T>C
2g.214990892A>TCA350469164ABCA12c.3434T>A (p.Phe1145Tyr)
c.2480T>A (p.Phe827Tyr)
n.3734T>A
n.3932T>A
2g.214990893A>CCA350469167ABCA12c.3433T>G (p.Phe1145Val)
c.2479T>G (p.Phe827Val)
n.3733T>G
n.3931T>G
2g.214990893A>GCA350469169ABCA12c.3433T>C (p.Phe1145Leu)
c.2479T>C (p.Phe827Leu)
n.3733T>C
n.3931T>C
2g.214990893A>TCA350469170ABCA12c.3433T>A (p.Phe1145Ile)
c.2479T>A (p.Phe827Ile)
n.3733T>A
n.3931T>A
2g.214990894C>ACA431388176ABCA12c.3432G>T (p.Gly1144=)
c.2478G>T (p.Gly826=)
n.3732G>T
n.3930G>T
2g.214990894C=CA1327165392ABCA12c.3432G= (p.Gly1144=)
c.2478G= (p.Gly826=)
n.3732G=
n.3930G=
2g.214990894C>GCA2091735ABCA12c.3432G>C (p.Gly1144=)
c.2478G>C (p.Gly826=)
n.3732G>C
n.3930G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990894C>TCA431388175ABCA12c.3432G>A (p.Gly1144=)
c.2478G>A (p.Gly826=)
n.3732G>A
n.3930G>A
2g.214990895C>ACA350469175ABCA12c.3431G>T (p.Gly1144Val)
c.2477G>T (p.Gly826Val)
n.3731G>T
n.3929G>T
 gnomAD v4
2g.214990895C>GCA350469176ABCA12c.3431G>C (p.Gly1144Ala)
c.2477G>C (p.Gly826Ala)
n.3731G>C
n.3929G>C
 gnomAD v4
2g.214990895C>TCA350469178ABCA12c.3431G>A (p.Gly1144Glu)
c.2477G>A (p.Gly826Glu)
n.3731G>A
n.3929G>A
2g.214990896C>ACA350469185ABCA12c.3430G>T (p.Gly1144Trp)
c.2476G>T (p.Gly826Trp)
n.3730G>T
n.3928G>T
2g.214990896C>GCA350469180ABCA12c.3430G>C (p.Gly1144Arg)
c.2476G>C (p.Gly826Arg)
n.3730G>C
n.3928G>C
2g.214990896C>TCA350469183ABCA12c.3430G>A (p.Gly1144Arg)
c.2476G>A (p.Gly826Arg)
n.3730G>A
n.3928G>A
 COSMIC COSMIC
2g.214990897A>CCA350469187ABCA12c.3429T>G (p.Asn1143Lys)
c.2475T>G (p.Asn825Lys)
n.3729T>G
n.3927T>G
2g.214990897A>GCA431388178ABCA12c.3429T>C (p.Asn1143=)
c.2475T>C (p.Asn825=)
n.3729T>C
n.3927T>C
2g.214990897A>TCA350469189ABCA12c.3429T>A (p.Asn1143Lys)
c.2475T>A (p.Asn825Lys)
n.3729T>A
n.3927T>A
 COSMIC COSMIC
2g.214990898T>ACA350469192ABCA12c.3428A>T (p.Asn1143Ile)
c.2474A>T (p.Asn825Ile)
n.3728A>T
n.3926A>T
 gnomAD v4
2g.214990898T>CCA350469194ABCA12c.3428A>G (p.Asn1143Ser)
c.2474A>G (p.Asn825Ser)
n.3728A>G
n.3926A>G
 gnomAD v4
2g.214990898T>GCA350469196ABCA12c.3428A>C (p.Asn1143Thr)
c.2474A>C (p.Asn825Thr)
n.3728A>C
n.3926A>C
2g.214990899T>ACA350469199ABCA12c.3427A>T (p.Asn1143Tyr)
c.2473A>T (p.Asn825Tyr)
n.3727A>T
n.3925A>T
2g.214990899T>CCA350469201ABCA12c.3427A>G (p.Asn1143Asp)
c.2473A>G (p.Asn825Asp)
n.3727A>G
n.3925A>G
2g.214990899T>GCA350469203ABCA12c.3427A>C (p.Asn1143His)
c.2473A>C (p.Asn825His)
n.3727A>C
n.3925A>C
 dbSNP gnomAD v2 gnomAD v4
2g.214990899T=CA1327165393ABCA12c.3427A= (p.Asn1143=)
c.2473A= (p.Asn825=)
n.3727A=
n.3925A=
2g.214990900T>ACA431388181ABCA12c.3426A>T (p.Thr1142=)
c.2472A>T (p.Thr824=)
n.3726A>T
n.3924A>T
2g.214990900T>CCA431388182ABCA12c.3426A>G (p.Thr1142=)
c.2472A>G (p.Thr824=)
n.3726A>G
n.3924A>G
2g.214990900T>GCA431388185ABCA12c.3426A>C (p.Thr1142=)
c.2472A>C (p.Thr824=)
n.3726A>C
n.3924A>C
2g.214990901G>ACA350469204ABCA12c.3425C>T (p.Thr1142Ile)
c.2471C>T (p.Thr824Ile)
n.3725C>T
n.3923C>T
2g.214990901G>CCA350469206ABCA12c.3425C>G (p.Thr1142Arg)
c.2471C>G (p.Thr824Arg)
n.3725C>G
n.3923C>G
2g.214990901G=CA1327165394ABCA12c.3425C= (p.Thr1142=)
c.2471C= (p.Thr824=)
n.3725C=
n.3923C=
2g.214990901G>TCA350469208ABCA12c.3425C>A (p.Thr1142Lys)
c.2471C>A (p.Thr824Lys)
n.3725C>A
n.3923C>A
 dbSNP gnomAD v4
2g.214990901_214990902delinsGTCA1327165395ABCA12c.3424_3425delinsAC (p.Thr1142=)
c.2470_2471delinsAC (p.Thr824=)
n.3724_3725delinsAC
n.3922_3923delinsAC
2g.214990902T>ACA350469212ABCA12c.3424A>T (p.Thr1142Ser)
c.2470A>T (p.Thr824Ser)
n.3724A>T
n.3922A>T
2g.214990902T>CCA350469214ABCA12c.3424A>G (p.Thr1142Ala)
c.2470A>G (p.Thr824Ala)
n.3724A>G
n.3922A>G
 dbSNP gnomAD v4
2g.214990902T>GCA350469211ABCA12c.3424A>C (p.Thr1142Pro)
c.2470A>C (p.Thr824Pro)
n.3724A>C
n.3922A>C
2g.214990902T=CA1327165397ABCA12c.3424A= (p.Thr1142=)
c.2470A= (p.Thr824=)
n.3724A=
n.3922A=
2g.214990905delCA1327165396ABCA12c.3424del (p.Thr1142GlnfsTer20)
c.2470del (p.Thr824GlnfsTer20)
n.3724del
n.3922del
 dbSNP gnomAD v3 gnomAD v4
2g.214990903T>ACA350469217ABCA12c.3423A>T (p.Lys1141Asn)
c.2469A>T (p.Lys823Asn)
n.3723A>T
n.3921A>T
2g.214990903T>CCA431388194ABCA12c.3423A>G (p.Lys1141=)
c.2469A>G (p.Lys823=)
n.3723A>G
n.3921A>G
2g.214990903T>GCA350469218ABCA12c.3423A>C (p.Lys1141Asn)
c.2469A>C (p.Lys823Asn)
n.3723A>C
n.3921A>C
2g.214990904T>ACA350469221ABCA12c.3422A>T (p.Lys1141Ile)
c.2468A>T (p.Lys823Ile)
n.3722A>T
n.3920A>T
2g.214990904T>CCA350469223ABCA12c.3422A>G (p.Lys1141Arg)
c.2468A>G (p.Lys823Arg)
n.3722A>G
n.3920A>G
2g.214990904T>GCA350469225ABCA12c.3422A>C (p.Lys1141Thr)
c.2468A>C (p.Lys823Thr)
n.3722A>C
n.3920A>C
2g.214990905T>ACA350469230ABCA12c.3421A>T (p.Lys1141Ter)
c.2467A>T (p.Lys823Ter)
n.3721A>T
n.3919A>T
2g.214990905T>CCA350469229ABCA12c.3421A>G (p.Lys1141Glu)
c.2467A>G (p.Lys823Glu)
n.3721A>G
n.3919A>G
2g.214990905T>GCA350469228ABCA12c.3421A>C (p.Lys1141Gln)
c.2467A>C (p.Lys823Gln)
n.3721A>C
n.3919A>C
2g.214990906A>CCA431388197ABCA12c.3420T>G (p.Pro1140=)
c.2466T>G (p.Pro822=)
n.3720T>G
n.3918T>G
2g.214990906A>GCA431388198ABCA12c.3420T>C (p.Pro1140=)
c.2466T>C (p.Pro822=)
n.3720T>C
n.3918T>C
2g.214990906A>TCA431388200ABCA12c.3420T>A (p.Pro1140=)
c.2466T>A (p.Pro822=)
n.3720T>A
n.3918T>A
2g.214990907G>ACA350469233ABCA12c.3419C>T (p.Pro1140Leu)
c.2465C>T (p.Pro822Leu)
n.3719C>T
n.3917C>T
2g.214990907G>CCA350469234ABCA12c.3419C>G (p.Pro1140Arg)
c.2465C>G (p.Pro822Arg)
n.3719C>G
n.3917C>G
2g.214990907G>TCA350469236ABCA12c.3419C>A (p.Pro1140His)
c.2465C>A (p.Pro822His)
n.3719C>A
n.3917C>A
2g.214990908G>ACA350469238ABCA12c.3418C>T (p.Pro1140Ser)
c.2464C>T (p.Pro822Ser)
n.3718C>T
n.3916C>T
 COSMIC COSMIC
2g.214990908G>CCA350469242ABCA12c.3418C>G (p.Pro1140Ala)
c.2464C>G (p.Pro822Ala)
n.3718C>G
n.3916C>G
2g.214990908G>TCA350469244ABCA12c.3418C>A (p.Pro1140Thr)
c.2464C>A (p.Pro822Thr)
n.3718C>A
n.3916C>A
2g.214990909A>CCA431388202ABCA12c.3417T>G (p.Leu1139=)
c.2463T>G (p.Leu821=)
n.3717T>G
n.3915T>G
2g.214990909A>GCA431388203ABCA12c.3417T>C (p.Leu1139=)
c.2463T>C (p.Leu821=)
n.3717T>C
n.3915T>C
2g.214990909A>TCA431388204ABCA12c.3417T>A (p.Leu1139=)
c.2463T>A (p.Leu821=)
n.3717T>A
n.3915T>A
2g.214990910A>CCA350469247ABCA12c.3416T>G (p.Leu1139Arg)
c.2462T>G (p.Leu821Arg)
n.3716T>G
n.3914T>G
2g.214990910A>GCA350469251ABCA12c.3416T>C (p.Leu1139Pro)
c.2462T>C (p.Leu821Pro)
n.3716T>C
n.3914T>C
 ClinVar dbSNP gnomAD v4
2g.214990910A>TCA350469249ABCA12c.3416T>A (p.Leu1139His)
c.2462T>A (p.Leu821His)
n.3716T>A
n.3914T>A
2g.214990911G>ACA350469252ABCA12c.3415C>T (p.Leu1139Phe)
c.2461C>T (p.Leu821Phe)
n.3715C>T
n.3913C>T
2g.214990911G>CCA350469254ABCA12c.3415C>G (p.Leu1139Val)
c.2461C>G (p.Leu821Val)
n.3715C>G
n.3913C>G
2g.214990911G>TCA350469256ABCA12c.3415C>A (p.Leu1139Ile)
c.2461C>A (p.Leu821Ile)
n.3715C>A
n.3913C>A
2g.214990912A>CCA350469259ABCA12c.3414T>G (p.Ile1138Met)
c.2460T>G (p.Ile820Met)
n.3714T>G
n.3912T>G
2g.214990912A>GCA431388209ABCA12c.3414T>C (p.Ile1138=)
c.2460T>C (p.Ile820=)
n.3714T>C
n.3912T>C
2g.214990912A>TCA431388210ABCA12c.3414T>A (p.Ile1138=)
c.2460T>A (p.Ile820=)
n.3714T>A
n.3912T>A
2g.214990913A>CCA350469261ABCA12c.3413T>G (p.Ile1138Ser)
c.2459T>G (p.Ile820Ser)
n.3713T>G
n.3911T>G
2g.214990913A>GCA350469263ABCA12c.3413T>C (p.Ile1138Thr)
c.2459T>C (p.Ile820Thr)
n.3713T>C
n.3911T>C
2g.214990913A>TCA350469265ABCA12c.3413T>A (p.Ile1138Asn)
c.2459T>A (p.Ile820Asn)
n.3713T>A
n.3911T>A
2g.214990914T>ACA350469268ABCA12c.3412A>T (p.Ile1138Phe)
c.2458A>T (p.Ile820Phe)
n.3712A>T
n.3910A>T
2g.214990914T>CCA2091736ABCA12c.3412A>G (p.Ile1138Val)
c.2458A>G (p.Ile820Val)
n.3712A>G
n.3910A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990914T>GCA350469271ABCA12c.3412A>C (p.Ile1138Leu)
c.2458A>C (p.Ile820Leu)
n.3712A>C
n.3910A>C
2g.214990914T=CA1327165398ABCA12c.3412A= (p.Ile1138=)
c.2458A= (p.Ile820=)
n.3712A=
n.3910A=
2g.214990914_214990915insCTGTCTCTTCA2754209703ABCA12c.3412_3413insAGAGACAGA (p.Asn1137_Ile1138insLysArgGln)
c.2458_2459insAGAGACAGA (p.Asn819_Ile820insLysArgGln)
n.3712_3713insAGAGACAGA
n.3910_3911insAGAGACAGA
2g.214990915A>CCA350469273ABCA12c.3411T>G (p.Asn1137Lys)
c.2457T>G (p.Asn819Lys)
n.3711T>G
n.3909T>G
2g.214990915A>GCA431388214ABCA12c.3411T>C (p.Asn1137=)
c.2457T>C (p.Asn819=)
n.3711T>C
n.3909T>C
 gnomAD v4
2g.214990915A>TCA350469275ABCA12c.3411T>A (p.Asn1137Lys)
c.2457T>A (p.Asn819Lys)
n.3711T>A
n.3909T>A
2g.214990916T>ACA350469282ABCA12c.3410A>T (p.Asn1137Ile)
c.2456A>T (p.Asn819Ile)
n.3710A>T
n.3908A>T
2g.214990916T>CCA350469280ABCA12c.3410A>G (p.Asn1137Ser)
c.2456A>G (p.Asn819Ser)
n.3710A>G
n.3908A>G
2g.214990916T>GCA350469278ABCA12c.3410A>C (p.Asn1137Thr)
c.2456A>C (p.Asn819Thr)
n.3710A>C
n.3908A>C
2g.214990916_214990917insACACACA2754209704ABCA12c.3409_3410insTGTGT (p.Asn1137MetfsTer27)
c.2455_2456insTGTGT (p.Asn819MetfsTer27)
n.3709_3710insTGTGT
n.3907_3908insTGTGT
2g.214990917T>ACA350469285ABCA12c.3409A>T (p.Asn1137Tyr)
c.2455A>T (p.Asn819Tyr)
n.3709A>T
n.3907A>T
2g.214990917T>CCA350469289ABCA12c.3409A>G (p.Asn1137Asp)
c.2455A>G (p.Asn819Asp)
n.3709A>G
n.3907A>G
2g.214990917T>GCA350469287ABCA12c.3409A>C (p.Asn1137His)
c.2455A>C (p.Asn819His)
n.3709A>C
n.3907A>C
2g.214990917_214990918insCTCCA2754209705ABCA12c.3408_3409insGAG (p.Gly1136_Asn1137insGlu)
c.2454_2455insGAG (p.Gly818_Asn819insGlu)
n.3708_3709insGAG
n.3906_3907insGAG
2g.214990918G>ACA431388222ABCA12c.3408C>T (p.Gly1136=)
c.2454C>T (p.Gly818=)
n.3708C>T
n.3906C>T
 COSMIC COSMIC
2g.214990918G>CCA431388221ABCA12c.3408C>G (p.Gly1136=)
c.2454C>G (p.Gly818=)
n.3708C>G
n.3906C>G
2g.214990918G>TCA431388220ABCA12c.3408C>A (p.Gly1136=)
c.2454C>A (p.Gly818=)
n.3708C>A
n.3906C>A
2g.214990919C>ACA350469292ABCA12c.3407G>T (p.Gly1136Val)
c.2453G>T (p.Gly818Val)
n.3707G>T
n.3905G>T
2g.214990919C>GCA350469294ABCA12c.3407G>C (p.Gly1136Ala)
c.2453G>C (p.Gly818Ala)
n.3707G>C
n.3905G>C
2g.214990919C>TCA350469296ABCA12c.3407G>A (p.Gly1136Asp)
c.2453G>A (p.Gly818Asp)
n.3707G>A
n.3905G>A
2g.214990920C>ACA350469299ABCA12c.3406G>T (p.Gly1136Cys)
c.2452G>T (p.Gly818Cys)
n.3706G>T
n.3904G>T
2g.214990920C>GCA350469302ABCA12c.3406G>C (p.Gly1136Arg)
c.2452G>C (p.Gly818Arg)
n.3706G>C
n.3904G>C
2g.214990920C>TCA350469304ABCA12c.3406G>A (p.Gly1136Ser)
c.2452G>A (p.Gly818Ser)
n.3706G>A
n.3904G>A
2g.214990921A>CCA350469306ABCA12c.3405T>G (p.Phe1135Leu)
c.2451T>G (p.Phe817Leu)
n.3705T>G
n.3903T>G
2g.214990921A>GCA431388229ABCA12c.3405T>C (p.Phe1135=)
c.2451T>C (p.Phe817=)
n.3705T>C
n.3903T>C
2g.214990921A>TCA350469309ABCA12c.3405T>A (p.Phe1135Leu)
c.2451T>A (p.Phe817Leu)
n.3705T>A
n.3903T>A
2g.214990922A>CCA350469312ABCA12c.3404T>G (p.Phe1135Cys)
c.2450T>G (p.Phe817Cys)
n.3704T>G
n.3902T>G
2g.214990922A>GCA350469314ABCA12c.3404T>C (p.Phe1135Ser)
c.2450T>C (p.Phe817Ser)
n.3704T>C
n.3902T>C
2g.214990922A>TCA350469316ABCA12c.3404T>A (p.Phe1135Tyr)
c.2450T>A (p.Phe817Tyr)
n.3704T>A
n.3902T>A
2g.214990923A>CCA350469323ABCA12c.3403T>G (p.Phe1135Val)
c.2449T>G (p.Phe817Val)
n.3703T>G
n.3901T>G
2g.214990923A>GCA350469319ABCA12c.3403T>C (p.Phe1135Leu)
c.2449T>C (p.Phe817Leu)
n.3703T>C
n.3901T>C
2g.214990923A>TCA350469321ABCA12c.3403T>A (p.Phe1135Ile)
c.2449T>A (p.Phe817Ile)
n.3703T>A
n.3901T>A
2g.214990924C>ACA350469326ABCA12c.3402G>T (p.Lys1134Asn)
c.2448G>T (p.Lys816Asn)
n.3702G>T
n.3900G>T
2g.214990924C=CA1327165399ABCA12c.3402G= (p.Lys1134=)
c.2448G= (p.Lys816=)
n.3702G=
n.3900G=
2g.214990924C>GCA350469328ABCA12c.3402G>C (p.Lys1134Asn)
c.2448G>C (p.Lys816Asn)
n.3702G>C
n.3900G>C
 dbSNP gnomAD v3 gnomAD v4
2g.214990924C>TCA431388241ABCA12c.3402G>A (p.Lys1134=)
c.2448G>A (p.Lys816=)
n.3702G>A
n.3900G>A
2g.214990925T>ACA350469330ABCA12c.3401A>T (p.Lys1134Met)
c.2447A>T (p.Lys816Met)
n.3701A>T
n.3899A>T
2g.214990925T>CCA350469332ABCA12c.3401A>G (p.Lys1134Arg)
c.2447A>G (p.Lys816Arg)
n.3701A>G
n.3899A>G
 gnomAD v4
2g.214990925T>GCA350469334ABCA12c.3401A>C (p.Lys1134Thr)
c.2447A>C (p.Lys816Thr)
n.3701A>C
n.3899A>C
 COSMIC COSMIC
2g.214990926T>ACA350469337ABCA12c.3400A>T (p.Lys1134Ter)
c.2446A>T (p.Lys816Ter)
n.3700A>T
n.3898A>T
2g.214990926T>CCA350469339ABCA12c.3400A>G (p.Lys1134Glu)
c.2446A>G (p.Lys816Glu)
n.3700A>G
n.3898A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214990926T>GCA350469340ABCA12c.3400A>C (p.Lys1134Gln)
c.2446A>C (p.Lys816Gln)
n.3700A>C
n.3898A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214990926T=CA1327165400ABCA12c.3400A= (p.Lys1134=)
c.2446A= (p.Lys816=)
n.3700A=
n.3898A=
2g.214990927G>ACA431388250ABCA12c.3399C>T (p.Leu1133=)
c.2445C>T (p.Leu815=)
n.3699C>T
n.3897C>T
2g.214990927G>CCA431388252ABCA12c.3399C>G (p.Leu1133=)
c.2445C>G (p.Leu815=)
n.3699C>G
n.3897C>G
 gnomAD v4
2g.214990927G>TCA431388254ABCA12c.3399C>A (p.Leu1133=)
c.2445C>A (p.Leu815=)
n.3699C>A
n.3897C>A
2g.214990928A>CCA350469343ABCA12c.3398T>G (p.Leu1133Arg)
c.2444T>G (p.Leu815Arg)
n.3698T>G
n.3896T>G
2g.214990928A>GCA350469344ABCA12c.3398T>C (p.Leu1133Pro)
c.2444T>C (p.Leu815Pro)
n.3698T>C
n.3896T>C
2g.214990928A>TCA350469346ABCA12c.3398T>A (p.Leu1133His)
c.2444T>A (p.Leu815His)
n.3698T>A
n.3896T>A
2g.214990929G>ACA350469350ABCA12c.3397C>T (p.Leu1133Phe)
c.2443C>T (p.Leu815Phe)
n.3697C>T
n.3895C>T
 COSMIC COSMIC
2g.214990929G>CCA350469352ABCA12c.3397C>G (p.Leu1133Val)
c.2443C>G (p.Leu815Val)
n.3697C>G
n.3895C>G
2g.214990929G>TCA350469349ABCA12c.3397C>A (p.Leu1133Ile)
c.2443C>A (p.Leu815Ile)
n.3697C>A
n.3895C>A
2g.214990930T>ACA431388260ABCA12c.3396A>T (p.Ile1132=)
c.2442A>T (p.Ile814=)
n.3696A>T
n.3894A>T
2g.214990930T>CCA350469355ABCA12c.3396A>G (p.Ile1132Met)
c.2442A>G (p.Ile814Met)
n.3696A>G
n.3894A>G
 dbSNP gnomAD v2 gnomAD v4
2g.214990930T>GCA431388265ABCA12c.3396A>C (p.Ile1132=)
c.2442A>C (p.Ile814=)
n.3696A>C
n.3894A>C
 gnomAD v4
2g.214990930T=CA1327165401ABCA12c.3396A= (p.Ile1132=)
c.2442A= (p.Ile814=)
n.3696A=
n.3894A=
2g.214990931A=CA1327165402ABCA12c.3395T= (p.Ile1132=)
c.2441T= (p.Ile814=)
n.3695T=
n.3893T=
2g.214990931A>CCA350469357ABCA12c.3395T>G (p.Ile1132Arg)
c.2441T>G (p.Ile814Arg)
n.3695T>G
n.3893T>G
2g.214990931A>GCA2091737ABCA12c.3395T>C (p.Ile1132Thr)
c.2441T>C (p.Ile814Thr)
n.3695T>C
n.3893T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990931A>TCA350469361ABCA12c.3395T>A (p.Ile1132Lys)
c.2441T>A (p.Ile814Lys)
n.3695T>A
n.3893T>A
2g.214990932T>ACA350469364ABCA12c.3394A>T (p.Ile1132Leu)
c.2440A>T (p.Ile814Leu)
n.3694A>T
n.3892A>T
2g.214990932T>CCA350469366ABCA12c.3394A>G (p.Ile1132Val)
c.2440A>G (p.Ile814Val)
n.3694A>G
n.3892A>G
2g.214990932T>GCA350469368ABCA12c.3394A>C (p.Ile1132Leu)
c.2440A>C (p.Ile814Leu)
n.3694A>C
n.3892A>C
2g.214990933A>CCA350469370ABCA12c.3393T>G (p.Ile1131Met)
c.2439T>G (p.Ile813Met)
n.3693T>G
n.3891T>G
2g.214990933A>GCA431388289ABCA12c.3393T>C (p.Ile1131=)
c.2439T>C (p.Ile813=)
n.3693T>C
n.3891T>C
2g.214990933A>TCA431388291ABCA12c.3393T>A (p.Ile1131=)
c.2439T>A (p.Ile813=)
n.3693T>A
n.3891T>A
2g.214990934A>CCA350469372ABCA12c.3392T>G (p.Ile1131Ser)
c.2438T>G (p.Ile813Ser)
n.3692T>G
n.3890T>G
 dbSNP
2g.214990934A>GCA350469373ABCA12c.3392T>C (p.Ile1131Thr)
c.2438T>C (p.Ile813Thr)
n.3692T>C
n.3890T>C
2g.214990934A>TCA350469376ABCA12c.3392T>A (p.Ile1131Asn)
c.2438T>A (p.Ile813Asn)
n.3692T>A
n.3890T>A
2g.214990935T>ACA350469379ABCA12c.3391A>T (p.Ile1131Phe)
c.2437A>T (p.Ile813Phe)
n.3691A>T
n.3889A>T
2g.214990935T>CCA350469381ABCA12c.3391A>G (p.Ile1131Val)
c.2437A>G (p.Ile813Val)
n.3691A>G
n.3889A>G
 dbSNP gnomAD v4
2g.214990935T>GCA350469383ABCA12c.3391A>C (p.Ile1131Leu)
c.2437A>C (p.Ile813Leu)
n.3691A>C
n.3889A>C
2g.214990935T=CA1327165403ABCA12c.3391A= (p.Ile1131=)
c.2437A= (p.Ile813=)
n.3691A=
n.3889A=
2g.214990936G>ACA431388299ABCA12c.3390C>T (p.Ile1130=)
c.2436C>T (p.Ile812=)
n.3690C>T
n.3888C>T
 COSMIC COSMIC
2g.214990936G>CCA350469384ABCA12c.3390C>G (p.Ile1130Met)
c.2436C>G (p.Ile812Met)
n.3690C>G
n.3888C>G
2g.214990936G=CA1327165404ABCA12c.3390C= (p.Ile1130=)
c.2436C= (p.Ile812=)
n.3690C=
n.3888C=
2g.214990936G>TCA2091738ABCA12c.3390C>A (p.Ile1130=)
c.2436C>A (p.Ile812=)
n.3690C>A
n.3888C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214990937A=CA1327165405ABCA12c.3389T= (p.Ile1130=)
c.2435T= (p.Ile812=)
n.3689T=
n.3887T=
2g.214990937A>CCA350469386ABCA12c.3389T>G (p.Ile1130Ser)
c.2435T>G (p.Ile812Ser)
n.3689T>G
n.3887T>G
2g.214990937A>GCA350469388ABCA12c.3389T>C (p.Ile1130Thr)
c.2435T>C (p.Ile812Thr)
n.3689T>C
n.3887T>C
 dbSNP
2g.214990937A>TCA350469391ABCA12c.3389T>A (p.Ile1130Asn)
c.2435T>A (p.Ile812Asn)
n.3689T>A
n.3887T>A
2g.214990938T>ACA350469394ABCA12c.3388A>T (p.Ile1130Phe)
c.2434A>T (p.Ile812Phe)
n.3688A>T
n.3886A>T
 dbSNP
2g.214990938T>CCA350469396ABCA12c.3388A>G (p.Ile1130Val)
c.2434A>G (p.Ile812Val)
n.3688A>G
n.3886A>G
2g.214990938T>GCA350469398ABCA12c.3388A>C (p.Ile1130Leu)
c.2434A>C (p.Ile812Leu)
n.3688A>C
n.3886A>C
2g.214990938T=CA1327165406ABCA12c.3388A= (p.Ile1130=)
c.2434A= (p.Ile812=)
n.3688A=
n.3886A=
2g.214990939G>ACA431388313ABCA12c.3387C>T (p.Leu1129=)
c.2433C>T (p.Leu811=)
n.3687C>T
n.3885C>T
 COSMIC COSMIC
2g.214990939G>CCA431388310ABCA12c.3387C>G (p.Leu1129=)
c.2433C>G (p.Leu811=)
n.3687C>G
n.3885C>G
2g.214990939G>TCA431388312ABCA12c.3387C>A (p.Leu1129=)
c.2433C>A (p.Leu811=)
n.3687C>A
n.3885C>A
2g.214990940A>CCA350469401ABCA12c.3386T>G (p.Leu1129Arg)
c.2432T>G (p.Leu811Arg)
n.3686T>G
n.3884T>G
2g.214990940A>GCA350469403ABCA12c.3386T>C (p.Leu1129Pro)
c.2432T>C (p.Leu811Pro)
n.3686T>C
n.3884T>C
2g.214990940A>TCA350469405ABCA12c.3386T>A (p.Leu1129His)
c.2432T>A (p.Leu811His)
n.3686T>A
n.3884T>A
2g.214990941G>ACA350469408ABCA12c.3385C>T (p.Leu1129Phe)
c.2431C>T (p.Leu811Phe)
n.3685C>T
n.3883C>T
2g.214990941G>CCA350469410ABCA12c.3385C>G (p.Leu1129Val)
c.2431C>G (p.Leu811Val)
n.3685C>G
n.3883C>G
2g.214990941G>TCA350469413ABCA12c.3385C>A (p.Leu1129Ile)
c.2431C>A (p.Leu811Ile)
n.3685C>A
n.3883C>A
2g.214990942G>ACA431388319ABCA12c.3384C>T (p.Ile1128=)
c.2430C>T (p.Ile810=)
n.3684C>T
n.3882C>T
2g.214990942G>CCA350469415ABCA12c.3384C>G (p.Ile1128Met)
c.2430C>G (p.Ile810Met)
n.3684C>G
n.3882C>G
2g.214990942G>TCA431388321ABCA12c.3384C>A (p.Ile1128=)
c.2430C>A (p.Ile810=)
n.3684C>A
n.3882C>A
 gnomAD v4
2g.214990943A>CCA350469418ABCA12c.3383T>G (p.Ile1128Ser)
c.2429T>G (p.Ile810Ser)
n.3683T>G
n.3881T>G
2g.214990943A>GCA350469422ABCA12c.3383T>C (p.Ile1128Thr)
c.2429T>C (p.Ile810Thr)
n.3683T>C
n.3881T>C
2g.214990943A>TCA350469420ABCA12c.3383T>A (p.Ile1128Asn)
c.2429T>A (p.Ile810Asn)
n.3683T>A
n.3881T>A
2g.214990944T>ACA350469424ABCA12c.3382A>T (p.Ile1128Phe)
c.2428A>T (p.Ile810Phe)
n.3682A>T
n.3880A>T
 gnomAD v4
2g.214990944T>CCA64827773ABCA12c.3382A>G (p.Ile1128Val)
c.2428A>G (p.Ile810Val)
n.3682A>G
n.3880A>G
 dbSNP
2g.214990944T>GCA350469427ABCA12c.3382A>C (p.Ile1128Leu)
c.2428A>C (p.Ile810Leu)
n.3682A>C
n.3880A>C
2g.214990944T=CA1327165407ABCA12c.3382A= (p.Ile1128=)
c.2428A= (p.Ile810=)
n.3682A=
n.3880A=
2g.214990945C>ACA431388331ABCA12c.3381G>T (p.Val1127=)
c.2427G>T (p.Val809=)
n.3681G>T
n.3879G>T
2g.214990945C>GCA431388333ABCA12c.3381G>C (p.Val1127=)
c.2427G>C (p.Val809=)
n.3681G>C
n.3879G>C
2g.214990945C>TCA431388334ABCA12c.3381G>A (p.Val1127=)
c.2427G>A (p.Val809=)
n.3681G>A
n.3879G>A
2g.214990946A=CA1327165408ABCA12c.3380T= (p.Val1127=)
c.2426T= (p.Val809=)
n.3680T=
n.3878T=
2g.214990946A>CCA350469429ABCA12c.3380T>G (p.Val1127Gly)
c.2426T>G (p.Val809Gly)
n.3680T>G
n.3878T>G
2g.214990946A>GCA64827781ABCA12c.3380T>C (p.Val1127Ala)
c.2426T>C (p.Val809Ala)
n.3680T>C
n.3878T>C
 dbSNP gnomAD v4
2g.214990946A>TCA350469431ABCA12c.3380T>A (p.Val1127Glu)
c.2426T>A (p.Val809Glu)
n.3680T>A
n.3878T>A
2g.214990947C>ACA350469436ABCA12c.3379G>T (p.Val1127Leu)
c.2425G>T (p.Val809Leu)
n.3679G>T
n.3877G>T
2g.214990947C=CA1327165409ABCA12c.3379G= (p.Val1127=)
c.2425G= (p.Val809=)
n.3679G=
n.3877G=
2g.214990947C>GCA350469439ABCA12c.3379G>C (p.Val1127Leu)
c.2425G>C (p.Val809Leu)
n.3679G>C
n.3877G>C
2g.214990947C>TCA2091739ABCA12c.3379G>A (p.Val1127Met)
c.2425G>A (p.Val809Met)
n.3679G>A
n.3877G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990948G>ACA2091740ABCA12c.3378C>T (p.Ile1126=)
c.2424C>T (p.Ile808=)
n.3678C>T
n.3876C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.214990948G>CCA350469442ABCA12c.3378C>G (p.Ile1126Met)
c.2424C>G (p.Ile808Met)
n.3678C>G
n.3876C>G
 dbSNP gnomAD v2 gnomAD v4
2g.214990948G=CA1327165410ABCA12c.3378C= (p.Ile1126=)
c.2424C= (p.Ile808=)
n.3678C=
n.3876C=
2g.214990948G>TCA431388340ABCA12c.3378C>A (p.Ile1126=)
c.2424C>A (p.Ile808=)
n.3678C>A
n.3876C>A
2g.214990949A>CCA350469445ABCA12c.3377T>G (p.Ile1126Ser)
c.2423T>G (p.Ile808Ser)
n.3677T>G
n.3875T>G
2g.214990949A>GCA350469446ABCA12c.3377T>C (p.Ile1126Thr)
c.2423T>C (p.Ile808Thr)
n.3677T>C
n.3875T>C
 gnomAD v4
2g.214990949A>TCA350469448ABCA12c.3377T>A (p.Ile1126Asn)
c.2423T>A (p.Ile808Asn)
n.3677T>A
n.3875T>A

Number of alleles fetched