Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.214990845T>ACA2091726ABCA12c.3481A>T (p.Met1161Leu)
c.2527A>T (p.Met843Leu)
n.3781A>T
n.3979A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990845T>CCA350468880ABCA12c.3481A>G (p.Met1161Val)
c.2527A>G (p.Met843Val)
n.3781A>G
n.3979A>G
 dbSNP gnomAD v3 gnomAD v4
2g.214990845T>GCA350468878ABCA12c.3481A>C (p.Met1161Leu)
c.2527A>C (p.Met843Leu)
n.3781A>C
n.3979A>C
2g.214990845T=CA1327165375ABCA12c.3481A= (p.Met1161=)
c.2527A= (p.Met843=)
n.3781A=
n.3979A=
2g.214990845_214990945delCA913089815ABCA12c.3381_3481del (p.Ile1128GlufsTer?)
c.2427_2527del (p.Ile810GlufsTer?)
n.3681_3781del
n.3879_3979del
 ClinVar
2g.214990846G>ACA64827658ABCA12c.3480C>T (p.Ala1160=)
c.2526C>T (p.Ala842=)
n.3780C>T
n.3978C>T
 dbSNP
2g.214990846G>CCA431388107ABCA12c.3480C>G (p.Ala1160=)
c.2526C>G (p.Ala842=)
n.3780C>G
n.3978C>G
2g.214990846G=CA1327165376ABCA12c.3480C= (p.Ala1160=)
c.2526C= (p.Ala842=)
n.3780C=
n.3978C=
2g.214990846G>TCA431388108ABCA12c.3480C>A (p.Ala1160=)
c.2526C>A (p.Ala842=)
n.3780C>A
n.3978C>A
2g.214990847G>ACA350468883ABCA12c.3479C>T (p.Ala1160Val)
c.2525C>T (p.Ala842Val)
n.3779C>T
n.3977C>T
2g.214990847G>CCA350468885ABCA12c.3479C>G (p.Ala1160Gly)
c.2525C>G (p.Ala842Gly)
n.3779C>G
n.3977C>G
2g.214990847G=CA1327165377ABCA12c.3479C= (p.Ala1160=)
c.2525C= (p.Ala842=)
n.3779C=
n.3977C=
2g.214990847G>TCA350468887ABCA12c.3479C>A (p.Ala1160Asp)
c.2525C>A (p.Ala842Asp)
n.3779C>A
n.3977C>A
 dbSNP
2g.214990848C>ACA350468888ABCA12c.3478G>T (p.Ala1160Ser)
c.2524G>T (p.Ala842Ser)
n.3778G>T
n.3976G>T
2g.214990848C=CA1327165378ABCA12c.3478G= (p.Ala1160=)
c.2524G= (p.Ala842=)
n.3778G=
n.3976G=
2g.214990848C>GCA350468889ABCA12c.3478G>C (p.Ala1160Pro)
c.2524G>C (p.Ala842Pro)
n.3778G>C
n.3976G>C
2g.214990848C>TCA64827670ABCA12c.3478G>A (p.Ala1160Thr)
c.2524G>A (p.Ala842Thr)
n.3778G>A
n.3976G>A
 dbSNP gnomAD v2 gnomAD v4
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

Number of alleles fetched