Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.214990845_214990945delCA913089815ABCA12c.3381_3481del (p.Ile1128GlufsTer?)
c.2427_2527del (p.Ile810GlufsTer?)
n.3681_3781del
n.3879_3979del
 ClinVar
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
2g.214990950T>ACA350469452ABCA12c.3376A>T (p.Ile1126Phe)
c.2422A>T (p.Ile808Phe)
n.3676A>T
n.3874A>T
2g.214990950T>CCA350469454ABCA12c.3376A>G (p.Ile1126Val)
c.2422A>G (p.Ile808Val)
n.3676A>G
n.3874A>G
2g.214990950T>GCA64827826ABCA12c.3376A>C (p.Ile1126Leu)
c.2422A>C (p.Ile808Leu)
n.3676A>C
n.3874A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214990950T=CA1327165411ABCA12c.3376A= (p.Ile1126=)
c.2422A= (p.Ile808=)
n.3676A=
n.3874A=
2g.214990951G>ACA431388345ABCA12c.3375C>T (p.Thr1125=)
c.2421C>T (p.Thr807=)
n.3675C>T
n.3873C>T
2g.214990951G>CCA431388346ABCA12c.3375C>G (p.Thr1125=)
c.2421C>G (p.Thr807=)
n.3675C>G
n.3873C>G
2g.214990951G>TCA431388376ABCA12c.3375C>A (p.Thr1125=)
c.2421C>A (p.Thr807=)
n.3675C>A
n.3873C>A
 gnomAD v4
2g.214990952G>ACA350469457ABCA12c.3374C>T (p.Thr1125Ile)
c.2420C>T (p.Thr807Ile)
n.3674C>T
n.3872C>T
 dbSNP gnomAD v4
2g.214990952G>CCA350469458ABCA12c.3374C>G (p.Thr1125Ser)
c.2420C>G (p.Thr807Ser)
n.3674C>G
n.3872C>G
2g.214990952G=CA1327165412ABCA12c.3374C= (p.Thr1125=)
c.2420C= (p.Thr807=)
n.3674C=
n.3872C=
2g.214990952G>TCA350469460ABCA12c.3374C>A (p.Thr1125Asn)
c.2420C>A (p.Thr807Asn)
n.3674C>A
n.3872C>A
2g.214990953T>ACA350469463ABCA12c.3373A>T (p.Thr1125Ser)
c.2419A>T (p.Thr807Ser)
n.3673A>T
n.3871A>T
2g.214990953T>CCA350469465ABCA12c.3373A>G (p.Thr1125Ala)
c.2419A>G (p.Thr807Ala)
n.3673A>G
n.3871A>G
2g.214990953T>GCA350469466ABCA12c.3373A>C (p.Thr1125Pro)
c.2419A>C (p.Thr807Pro)
n.3673A>C
n.3871A>C
 gnomAD v4
2g.214990954A>CCA431388377ABCA12c.3372T>G (p.Val1124=)
c.2418T>G (p.Val806=)
n.3672T>G
n.3870T>G
2g.214990954A>GCA431388378ABCA12c.3372T>C (p.Val1124=)
c.2418T>C (p.Val806=)
n.3672T>C
n.3870T>C
2g.214990954A>TCA431388379ABCA12c.3372T>A (p.Val1124=)
c.2418T>A (p.Val806=)
n.3672T>A
n.3870T>A
2g.214990955A>CCA350469469ABCA12c.3371T>G (p.Val1124Gly)
c.2417T>G (p.Val806Gly)
n.3671T>G
n.3869T>G
2g.214990955A>GCA350469473ABCA12c.3371T>C (p.Val1124Ala)
c.2417T>C (p.Val806Ala)
n.3671T>C
n.3869T>C
2g.214990955A>TCA350469471ABCA12c.3371T>A (p.Val1124Asp)
c.2417T>A (p.Val806Asp)
n.3671T>A
n.3869T>A
2g.214990956_214990958delCA2662978896ABCA12c.3369_3371del (p.Val1124del)
c.2415_2417del (p.Val806del)
n.3669_3671del
n.3867_3869del
 gnomAD v4
2g.214990956C>ACA350469476ABCA12c.3370G>T (p.Val1124Phe)
c.2416G>T (p.Val806Phe)
n.3670G>T
n.3868G>T
2g.214990956C>GCA350469477ABCA12c.3370G>C (p.Val1124Leu)
c.2416G>C (p.Val806Leu)
n.3670G>C
n.3868G>C
2g.214990956C>TCA350469480ABCA12c.3370G>A (p.Val1124Ile)
c.2416G>A (p.Val806Ile)
n.3670G>A
n.3868G>A
 gnomAD v4
2g.214990957C>ACA431388380ABCA12c.3369G>T (p.Leu1123=)
c.2415G>T (p.Leu805=)
n.3669G>T
n.3867G>T
2g.214990957C>GCA431388381ABCA12c.3369G>C (p.Leu1123=)
c.2415G>C (p.Leu805=)
n.3669G>C
n.3867G>C
2g.214990957C>TCA431388382ABCA12c.3369G>A (p.Leu1123=)
c.2415G>A (p.Leu805=)
n.3669G>A
n.3867G>A
2g.214990958A>CCA350469482ABCA12c.3368T>G (p.Leu1123Arg)
c.2414T>G (p.Leu805Arg)
n.3668T>G
n.3866T>G
2g.214990958A>GCA350469484ABCA12c.3368T>C (p.Leu1123Pro)
c.2414T>C (p.Leu805Pro)
n.3668T>C
n.3866T>C
2g.214990958A>TCA350469486ABCA12c.3368T>A (p.Leu1123Gln)
c.2414T>A (p.Leu805Gln)
n.3668T>A
n.3866T>A
2g.214990959G>ACA431388383ABCA12c.3367C>T (p.Leu1123=)
c.2413C>T (p.Leu805=)
n.3667C>T
n.3865C>T
 gnomAD v4
2g.214990959G>CCA350469488ABCA12c.3367C>G (p.Leu1123Val)
c.2413C>G (p.Leu805Val)
n.3667C>G
n.3865C>G
2g.214990959G>TCA350469490ABCA12c.3367C>A (p.Leu1123Met)
c.2413C>A (p.Leu805Met)
n.3667C>A
n.3865C>A
2g.214990960T>ACA350469493ABCA12c.3366A>T (p.Leu1122Phe)
c.2412A>T (p.Leu804Phe)
n.3666A>T
n.3864A>T
 dbSNP gnomAD v3 gnomAD v4
2g.214990960T>CCA431388384ABCA12c.3366A>G (p.Leu1122=)
c.2412A>G (p.Leu804=)
n.3666A>G
n.3864A>G
2g.214990960T>GCA350469494ABCA12c.3366A>C (p.Leu1122Phe)
c.2412A>C (p.Leu804Phe)
n.3666A>C
n.3864A>C
2g.214990960T=CA1327165413ABCA12c.3366A= (p.Leu1122=)
c.2412A= (p.Leu804=)
n.3666A=
n.3864A=
2g.214990960_214990961insGCA539837476ABCA12c.3365_3366insC (p.Leu1122PhefsTer20)
c.2411_2412insC (p.Leu804PhefsTer20)
n.3665_3666insC
n.3863_3864insC
 dbSNP gnomAD v2
2g.214990961A=CA1327165414ABCA12c.3365T= (p.Leu1122=)
c.2411T= (p.Leu804=)
n.3665T=
n.3863T=
2g.214990961A>CCA350469498ABCA12c.3365T>G (p.Leu1122Ter)
c.2411T>G (p.Leu804Ter)
n.3665T>G
n.3863T>G
2g.214990961A>GCA350469500ABCA12c.3365T>C (p.Leu1122Ser)
c.2411T>C (p.Leu804Ser)
n.3665T>C
n.3863T>C
 dbSNP gnomAD v2
2g.214990961A>TCA350469497ABCA12c.3365T>A (p.Leu1122Ter)
c.2411T>A (p.Leu804Ter)
n.3665T>A
n.3863T>A
2g.214990962A=CA1327165415ABCA12c.3364T= (p.Leu1122=)
c.2410T= (p.Leu804=)
n.3664T=
n.3862T=
2g.214990962A>CCA350469502ABCA12c.3364T>G (p.Leu1122Val)
c.2410T>G (p.Leu804Val)
n.3664T>G
n.3862T>G
 dbSNP
2g.214990962A>GCA431388386ABCA12c.3364T>C (p.Leu1122=)
c.2410T>C (p.Leu804=)
n.3664T>C
n.3862T>C
2g.214990962A>TCA350469505ABCA12c.3364T>A (p.Leu1122Ile)
c.2410T>A (p.Leu804Ile)
n.3664T>A
n.3862T>A
2g.214990963A=CA1327165416ABCA12c.3363T= (p.Phe1121=)
c.2409T= (p.Phe803=)
n.3663T=
n.3861T=
2g.214990963A>CCA350469509ABCA12c.3363T>G (p.Phe1121Leu)
c.2409T>G (p.Phe803Leu)
n.3663T>G
n.3861T>G
2g.214990963A>GCA431388387ABCA12c.3363T>C (p.Phe1121=)
c.2409T>C (p.Phe803=)
n.3663T>C
n.3861T>C
 dbSNP gnomAD v2
2g.214990963A>TCA350469511ABCA12c.3363T>A (p.Phe1121Leu)
c.2409T>A (p.Phe803Leu)
n.3663T>A
n.3861T>A
2g.214990964A>CCA350469515ABCA12c.3362T>G (p.Phe1121Cys)
c.2408T>G (p.Phe803Cys)
n.3662T>G
n.3860T>G
2g.214990964A>GCA350469518ABCA12c.3362T>C (p.Phe1121Ser)
c.2408T>C (p.Phe803Ser)
n.3662T>C
n.3860T>C
2g.214990964A>TCA350469520ABCA12c.3362T>A (p.Phe1121Tyr)
c.2408T>A (p.Phe803Tyr)
n.3662T>A
n.3860T>A
2g.214990965A>CCA350469523ABCA12c.3361T>G (p.Phe1121Val)
c.2407T>G (p.Phe803Val)
n.3661T>G
n.3859T>G
2g.214990965A>GCA350469525ABCA12c.3361T>C (p.Phe1121Leu)
c.2407T>C (p.Phe803Leu)
n.3661T>C
n.3859T>C
2g.214990965A>TCA350469527ABCA12c.3361T>A (p.Phe1121Ile)
c.2407T>A (p.Phe803Ile)
n.3661T>A
n.3859T>A
2g.214990966T>ACA431388391ABCA12c.3360A>T (p.Gly1120=)
c.2406A>T (p.Gly802=)
n.3660A>T
n.3858A>T
 gnomAD v4
2g.214990966T>CCA2091741ABCA12c.3360A>G (p.Gly1120=)
c.2406A>G (p.Gly802=)
n.3660A>G
n.3858A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990966T>GCA431388392ABCA12c.3360A>C (p.Gly1120=)
c.2406A>C (p.Gly802=)
n.3660A>C
n.3858A>C
2g.214990966T=CA1327165417ABCA12c.3360A= (p.Gly1120=)
c.2406A= (p.Gly802=)
n.3660A=
n.3858A=
2g.214990967C>ACA2091742ABCA12c.3359G>T (p.Gly1120Val)
c.2405G>T (p.Gly802Val)
n.3659G>T
n.3857G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214990967C=CA1327165418ABCA12c.3359G= (p.Gly1120=)
c.2405G= (p.Gly802=)
n.3659G=
n.3857G=
2g.214990967C>GCA350469539ABCA12c.3359G>C (p.Gly1120Ala)
c.2405G>C (p.Gly802Ala)
n.3659G>C
n.3857G>C
2g.214990967C>TCA350469533ABCA12c.3359G>A (p.Gly1120Glu)
c.2405G>A (p.Gly802Glu)
n.3659G>A
n.3857G>A
 gnomAD v4
2g.214990968C>ACA350469542ABCA12c.3358G>T (p.Gly1120Ter)
c.2404G>T (p.Gly802Ter)
n.3658G>T
n.3856G>T
2g.214990968C>GCA350469546ABCA12c.3358G>C (p.Gly1120Arg)
c.2404G>C (p.Gly802Arg)
n.3658G>C
n.3856G>C
2g.214990968C>TCA350469548ABCA12c.3358G>A (p.Gly1120Arg)
c.2404G>A (p.Gly802Arg)
n.3658G>A
n.3856G>A
2g.214990969A>CCA431388393ABCA12c.3357T>G (p.Val1119=)
c.2403T>G (p.Val801=)
n.3657T>G
n.3855T>G
2g.214990969A>GCA431388395ABCA12c.3357T>C (p.Val1119=)
c.2403T>C (p.Val801=)
n.3657T>C
n.3855T>C
2g.214990969A>TCA431388394ABCA12c.3357T>A (p.Val1119=)
c.2403T>A (p.Val801=)
n.3657T>A
n.3855T>A
2g.214990970A>CCA350469550ABCA12c.3356T>G (p.Val1119Gly)
c.2402T>G (p.Val801Gly)
n.3656T>G
n.3854T>G
2g.214990970A>GCA350469551ABCA12c.3356T>C (p.Val1119Ala)
c.2402T>C (p.Val801Ala)
n.3656T>C
n.3854T>C
 gnomAD v4
2g.214990970A>TCA350469553ABCA12c.3356T>A (p.Val1119Asp)
c.2402T>A (p.Val801Asp)
n.3656T>A
n.3854T>A
2g.214990971C>ACA350469557ABCA12c.3355G>T (p.Val1119Phe)
c.2401G>T (p.Val801Phe)
n.3655G>T
n.3853G>T
 gnomAD v4
2g.214990971C>GCA350469568ABCA12c.3355G>C (p.Val1119Leu)
c.2401G>C (p.Val801Leu)
n.3655G>C
n.3853G>C
2g.214990971C>TCA350469567ABCA12c.3355G>A (p.Val1119Ile)
c.2401G>A (p.Val801Ile)
n.3655G>A
n.3853G>A
 ClinVar
2g.214990972A=CA1327165419ABCA12c.3354T= (p.Ser1118=)
c.2400T= (p.Ser800=)
n.3654T=
n.3852T=
2g.214990972A>CCA350469569ABCA12c.3354T>G (p.Ser1118Arg)
c.2400T>G (p.Ser800Arg)
n.3654T>G
n.3852T>G
 dbSNP gnomAD v2
2g.214990972A>GCA431388399ABCA12c.3354T>C (p.Ser1118=)
c.2400T>C (p.Ser800=)
n.3654T>C
n.3852T>C
 ClinVar
2g.214990972A>TCA350469570ABCA12c.3354T>A (p.Ser1118Arg)
c.2400T>A (p.Ser800Arg)
n.3654T>A
n.3852T>A
2g.214990973C>ACA350469572ABCA12c.3353G>T (p.Ser1118Ile)
c.2399G>T (p.Ser800Ile)
n.3653G>T
n.3851G>T
2g.214990973C=CA1327165420ABCA12c.3353G= (p.Ser1118=)
c.2399G= (p.Ser800=)
n.3653G=
n.3851G=
2g.214990973C>GCA350469574ABCA12c.3353G>C (p.Ser1118Thr)
c.2399G>C (p.Ser800Thr)
n.3653G>C
n.3851G>C
2g.214990973C>TCA350469576ABCA12c.3353G>A (p.Ser1118Asn)
c.2399G>A (p.Ser800Asn)
n.3653G>A
n.3851G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214990974T>ACA350469584ABCA12c.3352A>T (p.Ser1118Cys)
c.2398A>T (p.Ser800Cys)
n.3652A>T
n.3850A>T
 gnomAD v4
2g.214990974T>CCA350469583ABCA12c.3352A>G (p.Ser1118Gly)
c.2398A>G (p.Ser800Gly)
n.3652A>G
n.3850A>G
 gnomAD v4
2g.214990974T>GCA350469582ABCA12c.3352A>C (p.Ser1118Arg)
c.2398A>C (p.Ser800Arg)
n.3652A>C
n.3850A>C
2g.214990975C>ACA350469588ABCA12c.3351G>T (p.Glu1117Asp)
c.2397G>T (p.Glu799Asp)
n.3651G>T
n.3849G>T
2g.214990975C=CA1327165421ABCA12c.3351G= (p.Glu1117=)
c.2397G= (p.Glu799=)
n.3651G=
n.3849G=
2g.214990975C>GCA350469586ABCA12c.3351G>C (p.Glu1117Asp)
c.2397G>C (p.Glu799Asp)
n.3651G>C
n.3849G>C
2g.214990975C>TCA2091743ABCA12c.3351G>A (p.Glu1117=)
c.2397G>A (p.Glu799=)
n.3651G>A
n.3849G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214990976T>ACA350469591ABCA12c.3350A>T (p.Glu1117Val)
c.2396A>T (p.Glu799Val)
n.3650A>T
n.3848A>T
2g.214990976T>CCA350469593ABCA12c.3350A>G (p.Glu1117Gly)
c.2396A>G (p.Glu799Gly)
n.3650A>G
n.3848A>G
2g.214990976T>GCA350469594ABCA12c.3350A>C (p.Glu1117Ala)
c.2396A>C (p.Glu799Ala)
n.3650A>C
n.3848A>C
2g.214990977C>ACA350469595ABCA12c.3349G>T (p.Glu1117Ter)
c.2395G>T (p.Glu799Ter)
n.3649G>T
n.3847G>T
2g.214990977C>GCA350469596ABCA12c.3349G>C (p.Glu1117Gln)
c.2395G>C (p.Glu799Gln)
n.3649G>C
n.3847G>C
2g.214990977C>TCA350469597ABCA12c.3349G>A (p.Glu1117Lys)
c.2395G>A (p.Glu799Lys)
n.3649G>A
n.3847G>A
2g.214990978T>ACA431388401ABCA12c.3348A>T (p.Ile1116=)
c.2394A>T (p.Ile798=)
n.3648A>T
n.3846A>T
2g.214990978T>CCA350469598ABCA12c.3348A>G (p.Ile1116Met)
c.2394A>G (p.Ile798Met)
n.3648A>G
n.3846A>G
 dbSNP gnomAD v2 gnomAD v4
2g.214990978T>GCA431388403ABCA12c.3348A>C (p.Ile1116=)
c.2394A>C (p.Ile798=)
n.3648A>C
n.3846A>C
 gnomAD v4
2g.214990978T=CA1327165422ABCA12c.3348A= (p.Ile1116=)
c.2394A= (p.Ile798=)
n.3648A=
n.3846A=
2g.214990979A>CCA350469599ABCA12c.3347T>G (p.Ile1116Arg)
c.2393T>G (p.Ile798Arg)
n.3647T>G
n.3845T>G
2g.214990979A>GCA350469601ABCA12c.3347T>C (p.Ile1116Thr)
c.2393T>C (p.Ile798Thr)
n.3647T>C
n.3845T>C
2g.214990979A>TCA350469603ABCA12c.3347T>A (p.Ile1116Lys)
c.2393T>A (p.Ile798Lys)
n.3647T>A
n.3845T>A
2g.214990980T>ACA350469605ABCA12c.3346A>T (p.Ile1116Leu)
c.2392A>T (p.Ile798Leu)
n.3646A>T
n.3844A>T
2g.214990980T>CCA350469607ABCA12c.3346A>G (p.Ile1116Val)
c.2392A>G (p.Ile798Val)
n.3646A>G
n.3844A>G
2g.214990980T>GCA350469609ABCA12c.3346A>C (p.Ile1116Leu)
c.2392A>C (p.Ile798Leu)
n.3646A>C
n.3844A>C
2g.214990981A=CA1327165423ABCA12c.3345T= (p.Leu1115=)
c.2391T= (p.Leu797=)
n.3645T=
n.3843T=
2g.214990981A>CCA431388388ABCA12c.3345T>G (p.Leu1115=)
c.2391T>G (p.Leu797=)
n.3645T>G
n.3843T>G
2g.214990981A>GCA431388389ABCA12c.3345T>C (p.Leu1115=)
c.2391T>C (p.Leu797=)
n.3645T>C
n.3843T>C
 ClinVar dbSNP
2g.214990981A>TCA431388390ABCA12c.3345T>A (p.Leu1115=)
c.2391T>A (p.Leu797=)
n.3645T>A
n.3843T>A
2g.214990982A>CCA350469611ABCA12c.3344T>G (p.Leu1115Arg)
c.2390T>G (p.Leu797Arg)
n.3644T>G
n.3842T>G
2g.214990982A>GCA350469614ABCA12c.3344T>C (p.Leu1115Pro)
c.2390T>C (p.Leu797Pro)
n.3644T>C
n.3842T>C
2g.214990982A>TCA350469612ABCA12c.3344T>A (p.Leu1115His)
c.2390T>A (p.Leu797His)
n.3644T>A
n.3842T>A
2g.214990983G>ACA350469616ABCA12c.3343C>T (p.Leu1115Phe)
c.2389C>T (p.Leu797Phe)
n.3643C>T
n.3841C>T
 gnomAD v4
2g.214990983G>CCA350469617ABCA12c.3343C>G (p.Leu1115Val)
c.2389C>G (p.Leu797Val)
n.3643C>G
n.3841C>G
2g.214990983G>TCA350469618ABCA12c.3343C>A (p.Leu1115Ile)
c.2389C>A (p.Leu797Ile)
n.3643C>A
n.3841C>A
2g.214990984C>ACA350469620ABCA12c.3342G>T (p.Trp1114Cys)
c.2388G>T (p.Trp796Cys)
n.3642G>T
n.3840G>T
2g.214990984C>GCA350469621ABCA12c.3342G>C (p.Trp1114Cys)
c.2388G>C (p.Trp796Cys)
n.3642G>C
n.3840G>C
2g.214990984C>TCA350469623ABCA12c.3342G>A (p.Trp1114Ter)
c.2388G>A (p.Trp796Ter)
n.3642G>A
n.3840G>A
2g.214990985C>ACA350469625ABCA12c.3341G>T (p.Trp1114Leu)
c.2387G>T (p.Trp796Leu)
n.3641G>T
n.3839G>T
2g.214990985C>GCA350469627ABCA12c.3341G>C (p.Trp1114Ser)
c.2387G>C (p.Trp796Ser)
n.3641G>C
n.3839G>C
2g.214990985C>TCA350469628ABCA12c.3341G>A (p.Trp1114Ter)
c.2387G>A (p.Trp796Ter)
n.3641G>A
n.3839G>A
2g.214990986A>CCA350469630ABCA12c.3340T>G (p.Trp1114Gly)
c.2386T>G (p.Trp796Gly)
n.3640T>G
n.3838T>G
2g.214990986A>GCA350469632ABCA12c.3340T>C (p.Trp1114Arg)
c.2386T>C (p.Trp796Arg)
n.3640T>C
n.3838T>C
2g.214990986A>TCA350469634ABCA12c.3340T>A (p.Trp1114Arg)
c.2386T>A (p.Trp796Arg)
n.3640T>A
n.3838T>A
2g.214990987G>ACA431388396ABCA12c.3339C>T (p.Ala1113=)
c.2385C>T (p.Ala795=)
n.3639C>T
n.3837C>T
2g.214990987G>CCA431388397ABCA12c.3339C>G (p.Ala1113=)
c.2385C>G (p.Ala795=)
n.3639C>G
n.3837C>G
2g.214990987G>TCA431388398ABCA12c.3339C>A (p.Ala1113=)
c.2385C>A (p.Ala795=)
n.3639C>A
n.3837C>A
2g.214990988G>ACA350469636ABCA12c.3338C>T (p.Ala1113Val)
c.2384C>T (p.Ala795Val)
n.3638C>T
n.3836C>T
 gnomAD v4
2g.214990988G>CCA350469640ABCA12c.3338C>G (p.Ala1113Gly)
c.2384C>G (p.Ala795Gly)
n.3638C>G
n.3836C>G
2g.214990988G>TCA350469638ABCA12c.3338C>A (p.Ala1113Asp)
c.2384C>A (p.Ala795Asp)
n.3638C>A
n.3836C>A
2g.214990989C>ACA350469642ABCA12c.3337G>T (p.Ala1113Ser)
c.2383G>T (p.Ala795Ser)
n.3637G>T
n.3835G>T
2g.214990989C=CA1327165424ABCA12c.3337G= (p.Ala1113=)
c.2383G= (p.Ala795=)
n.3637G=
n.3835G=
2g.214990989C>GCA64827847ABCA12c.3337G>C (p.Ala1113Pro)
c.2383G>C (p.Ala795Pro)
n.3637G>C
n.3835G>C
 dbSNP
2g.214990989C>TCA350469644ABCA12c.3337G>A (p.Ala1113Thr)
c.2383G>A (p.Ala795Thr)
n.3637G>A
n.3835G>A
2g.214990990A>CCA350469646ABCA12c.3336T>G (p.Phe1112Leu)
c.2382T>G (p.Phe794Leu)
n.3636T>G
n.3834T>G
2g.214990990A>GCA431388400ABCA12c.3336T>C (p.Phe1112=)
c.2382T>C (p.Phe794=)
n.3636T>C
n.3834T>C
2g.214990990A>TCA350469648ABCA12c.3336T>A (p.Phe1112Leu)
c.2382T>A (p.Phe794Leu)
n.3636T>A
n.3834T>A

Number of alleles fetched