Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.91305786C>ACA390623118CCDC88Cc.3336G>T (p.Gln1112His)
c.3228G>T (p.Gln1076His)
n.3464G>T
c.417G>T (p.Gln139His)
n.3462G>T
14g.91305786C=CA2154901294CCDC88Cc.3336G= (p.Gln1112=)
c.3228G= (p.Gln1076=)
n.3464G=
c.417G= (p.Gln139=)
n.3462G=
14g.91305786C>GCA390623119CCDC88Cc.3336G>C (p.Gln1112His)
c.3228G>C (p.Gln1076His)
n.3464G>C
c.417G>C (p.Gln139His)
n.3462G>C
 dbSNP
14g.91305786C>TCA487549029CCDC88Cc.3336G>A (p.Gln1112=)
c.3228G>A (p.Gln1076=)
n.3464G>A
c.417G>A (p.Gln139=)
n.3462G>A
14g.91305787T>ACA390623121CCDC88Cc.3335A>T (p.Gln1112Leu)
c.3227A>T (p.Gln1076Leu)
n.3463A>T
c.416A>T (p.Gln139Leu)
n.3461A>T
14g.91305787T>CCA390623122CCDC88Cc.3335A>G (p.Gln1112Arg)
c.3227A>G (p.Gln1076Arg)
n.3463A>G
c.416A>G (p.Gln139Arg)
n.3461A>G
14g.91305787T>GCA390623120CCDC88Cc.3335A>C (p.Gln1112Pro)
c.3227A>C (p.Gln1076Pro)
n.3463A>C
c.416A>C (p.Gln139Pro)
n.3461A>C
14g.91305788G>ACA390623125CCDC88Cc.3334C>T (p.Gln1112Ter)
c.3226C>T (p.Gln1076Ter)
n.3462C>T
c.415C>T (p.Gln139Ter)
n.3460C>T
14g.91305788G>CCA390623123CCDC88Cc.3334C>G (p.Gln1112Glu)
c.3226C>G (p.Gln1076Glu)
n.3462C>G
c.415C>G (p.Gln139Glu)
n.3460C>G
14g.91305788G>TCA390623124CCDC88Cc.3334C>A (p.Gln1112Lys)
c.3226C>A (p.Gln1076Lys)
n.3462C>A
c.415C>A (p.Gln139Lys)
n.3460C>A
14g.91305789C>ACA487549032CCDC88Cc.3333G>T (p.Leu1111=)
c.3225G>T (p.Leu1075=)
n.3461G>T
c.414G>T (p.Leu138=)
n.3459G>T
14g.91305789C>GCA487549034CCDC88Cc.3333G>C (p.Leu1111=)
c.3225G>C (p.Leu1075=)
n.3461G>C
c.414G>C (p.Leu138=)
n.3459G>C
14g.91305789C>TCA487549036CCDC88Cc.3333G>A (p.Leu1111=)
c.3225G>A (p.Leu1075=)
n.3461G>A
c.414G>A (p.Leu138=)
n.3459G>A
 gnomAD v4
14g.91305790A=CA2154901297CCDC88Cc.3332T= (p.Leu1111=)
c.3224T= (p.Leu1075=)
n.3460T=
c.413T= (p.Leu138=)
n.3458T=
14g.91305790A>CCA390623126CCDC88Cc.3332T>G (p.Leu1111Arg)
c.3224T>G (p.Leu1075Arg)
n.3460T>G
c.413T>G (p.Leu138Arg)
n.3458T>G
14g.91305790A>GCA7309394CCDC88Cc.3332T>C (p.Leu1111Pro)
c.3224T>C (p.Leu1075Pro)
n.3460T>C
c.413T>C (p.Leu138Pro)
n.3458T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91305790A>TCA390623127CCDC88Cc.3332T>A (p.Leu1111Gln)
c.3224T>A (p.Leu1075Gln)
n.3460T>A
c.413T>A (p.Leu138Gln)
n.3458T>A
14g.91305791G>ACA487549037CCDC88Cc.3331C>T (p.Leu1111=)
c.3223C>T (p.Leu1075=)
n.3459C>T
c.412C>T (p.Leu138=)
n.3457C>T
 dbSNP gnomAD v2 gnomAD v4
14g.91305791G>CCA390623128CCDC88Cc.3331C>G (p.Leu1111Val)
c.3223C>G (p.Leu1075Val)
n.3459C>G
c.412C>G (p.Leu138Val)
n.3457C>G
14g.91305791G=CA2154901301CCDC88Cc.3331C= (p.Leu1111=)
c.3223C= (p.Leu1075=)
n.3459C=
c.412C= (p.Leu138=)
n.3457C=
14g.91305791G>TCA390623129CCDC88Cc.3331C>A (p.Leu1111Met)
c.3223C>A (p.Leu1075Met)
n.3459C>A
c.412C>A (p.Leu138Met)
n.3457C>A
14g.91305792T>ACA487549038CCDC88Cc.3330A>T (p.Thr1110=)
c.3222A>T (p.Thr1074=)
n.3458A>T
c.411A>T (p.Thr137=)
n.3456A>T
14g.91305792T>CCA487549039CCDC88Cc.3330A>G (p.Thr1110=)
c.3222A>G (p.Thr1074=)
n.3458A>G
c.411A>G (p.Thr137=)
n.3456A>G
 dbSNP gnomAD v3 gnomAD v4
14g.91305792T>GCA487549041CCDC88Cc.3330A>C (p.Thr1110=)
c.3222A>C (p.Thr1074=)
n.3458A>C
c.411A>C (p.Thr137=)
n.3456A>C
14g.91305792T=CA2154901308CCDC88Cc.3330A= (p.Thr1110=)
c.3222A= (p.Thr1074=)
n.3458A=
c.411A= (p.Thr137=)
n.3456A=
14g.91305793G>ACA390623130CCDC88Cc.3329C>T (p.Thr1110Ile)
c.3221C>T (p.Thr1074Ile)
n.3457C>T
c.410C>T (p.Thr137Ile)
n.3455C>T
14g.91305793G>CCA390623131CCDC88Cc.3329C>G (p.Thr1110Arg)
c.3221C>G (p.Thr1074Arg)
n.3457C>G
c.410C>G (p.Thr137Arg)
n.3455C>G
14g.91305793G>TCA390623132CCDC88Cc.3329C>A (p.Thr1110Lys)
c.3221C>A (p.Thr1074Lys)
n.3457C>A
c.410C>A (p.Thr137Lys)
n.3455C>A
14g.91305796_91305798delCA2741399897CCDC88Cc.3327_3329del (p.Thr1110del)
c.3219_3221del (p.Thr1074del)
n.3455_3457del
c.408_410del (p.Thr137del)
n.3453_3455del
14g.91305794T>ACA390623133CCDC88Cc.3328A>T (p.Thr1110Ser)
c.3220A>T (p.Thr1074Ser)
n.3456A>T
c.409A>T (p.Thr137Ser)
n.3454A>T
14g.91305794T>CCA390623134CCDC88Cc.3328A>G (p.Thr1110Ala)
c.3220A>G (p.Thr1074Ala)
n.3456A>G
c.409A>G (p.Thr137Ala)
n.3454A>G
14g.91305794T>GCA390623135CCDC88Cc.3328A>C (p.Thr1110Pro)
c.3220A>C (p.Thr1074Pro)
n.3456A>C
c.409A>C (p.Thr137Pro)
n.3454A>C
14g.91305795G>ACA487549046CCDC88Cc.3327C>T (p.Thr1109=)
c.3219C>T (p.Thr1073=)
n.3455C>T
c.408C>T (p.Thr136=)
n.3453C>T
14g.91305795G>CCA487549044CCDC88Cc.3327C>G (p.Thr1109=)
c.3219C>G (p.Thr1073=)
n.3455C>G
c.408C>G (p.Thr136=)
n.3453C>G
14g.91305795G>TCA487549043CCDC88Cc.3327C>A (p.Thr1109=)
c.3219C>A (p.Thr1073=)
n.3455C>A
c.408C>A (p.Thr136=)
n.3453C>A
14g.91305796G>ACA390623136CCDC88Cc.3326C>T (p.Thr1109Ile)
c.3218C>T (p.Thr1073Ile)
n.3454C>T
c.407C>T (p.Thr136Ile)
n.3452C>T
14g.91305796G>CCA390623138CCDC88Cc.3326C>G (p.Thr1109Ser)
c.3218C>G (p.Thr1073Ser)
n.3454C>G
c.407C>G (p.Thr136Ser)
n.3452C>G
14g.91305796G>TCA390623137CCDC88Cc.3326C>A (p.Thr1109Asn)
c.3218C>A (p.Thr1073Asn)
n.3454C>A
c.407C>A (p.Thr136Asn)
n.3452C>A
14g.91305797T>ACA390623139CCDC88Cc.3325A>T (p.Thr1109Ser)
c.3217A>T (p.Thr1073Ser)
n.3453A>T
c.406A>T (p.Thr136Ser)
n.3451A>T
14g.91305797T>CCA7309395CCDC88Cc.3325A>G (p.Thr1109Ala)
c.3217A>G (p.Thr1073Ala)
n.3453A>G
c.406A>G (p.Thr136Ala)
n.3451A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305797T>GCA390623140CCDC88Cc.3325A>C (p.Thr1109Pro)
c.3217A>C (p.Thr1073Pro)
n.3453A>C
c.406A>C (p.Thr136Pro)
n.3451A>C
14g.91305797T=CA2154901309CCDC88Cc.3325A= (p.Thr1109=)
c.3217A= (p.Thr1073=)
n.3453A=
c.406A= (p.Thr136=)
n.3451A=
14g.91305800_91305802delCA2575603294CCDC88Cc.3323_3325del (p.Asn1108del)
c.3215_3217del (p.Asn1072del)
n.3451_3453del
c.404_406del (p.Asn135del)
n.3449_3451del
 ClinVar gnomAD v4
14g.91305798G>ACA487549049CCDC88Cc.3324C>T (p.Asn1108=)
c.3216C>T (p.Asn1072=)
n.3452C>T
c.405C>T (p.Asn135=)
n.3450C>T
 gnomAD v4
14g.91305798G>CCA390623141CCDC88Cc.3324C>G (p.Asn1108Lys)
c.3216C>G (p.Asn1072Lys)
n.3452C>G
c.405C>G (p.Asn135Lys)
n.3450C>G
14g.91305798G>TCA390623142CCDC88Cc.3324C>A (p.Asn1108Lys)
c.3216C>A (p.Asn1072Lys)
n.3452C>A
c.405C>A (p.Asn135Lys)
n.3450C>A
14g.91305799T>ACA390623143CCDC88Cc.3323A>T (p.Asn1108Ile)
c.3215A>T (p.Asn1072Ile)
n.3451A>T
c.404A>T (p.Asn135Ile)
n.3449A>T
 gnomAD v4
14g.91305799T>CCA390623144CCDC88Cc.3323A>G (p.Asn1108Ser)
c.3215A>G (p.Asn1072Ser)
n.3451A>G
c.404A>G (p.Asn135Ser)
n.3449A>G
 dbSNP gnomAD v2 gnomAD v4
14g.91305799T>GCA7309396CCDC88Cc.3323A>C (p.Asn1108Thr)
c.3215A>C (p.Asn1072Thr)
n.3451A>C
c.404A>C (p.Asn135Thr)
n.3449A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305799T=CA2154901311CCDC88Cc.3323A= (p.Asn1108=)
c.3215A= (p.Asn1072=)
n.3451A=
c.404A= (p.Asn135=)
n.3449A=
14g.91305800T>ACA390623145CCDC88Cc.3322A>T (p.Asn1108Tyr)
c.3214A>T (p.Asn1072Tyr)
n.3450A>T
c.403A>T (p.Asn135Tyr)
n.3448A>T
14g.91305800T>CCA390623146CCDC88Cc.3322A>G (p.Asn1108Asp)
c.3214A>G (p.Asn1072Asp)
n.3450A>G
c.403A>G (p.Asn135Asp)
n.3448A>G
14g.91305800T>GCA390623147CCDC88Cc.3322A>C (p.Asn1108His)
c.3214A>C (p.Asn1072His)
n.3450A>C
c.403A>C (p.Asn135His)
n.3448A>C
14g.91305801G>ACA487549053CCDC88Cc.3321C>T (p.His1107=)
c.3213C>T (p.His1071=)
n.3449C>T
c.402C>T (p.His134=)
n.3447C>T
14g.91305801G>CCA390623149CCDC88Cc.3321C>G (p.His1107Gln)
c.3213C>G (p.His1071Gln)
n.3449C>G
c.402C>G (p.His134Gln)
n.3447C>G
14g.91305801G>TCA390623148CCDC88Cc.3321C>A (p.His1107Gln)
c.3213C>A (p.His1071Gln)
n.3449C>A
c.402C>A (p.His134Gln)
n.3447C>A
14g.91305802T>ACA390623150CCDC88Cc.3320A>T (p.His1107Leu)
c.3212A>T (p.His1071Leu)
n.3448A>T
c.401A>T (p.His134Leu)
n.3446A>T
14g.91305802T>CCA390623151CCDC88Cc.3320A>G (p.His1107Arg)
c.3212A>G (p.His1071Arg)
n.3448A>G
c.401A>G (p.His134Arg)
n.3446A>G
 COSMIC COSMIC
14g.91305802T>GCA390623152CCDC88Cc.3320A>C (p.His1107Pro)
c.3212A>C (p.His1071Pro)
n.3448A>C
c.401A>C (p.His134Pro)
n.3446A>C
 gnomAD v4
14g.91305804_91305824delCA2626131657CCDC88Cc.3300_3320del (p.Gln1100_Glu1106del)
c.3192_3212del (p.Gln1064_Glu1070del)
n.3428_3448del
c.381_401del (p.Gln127_Glu133del)
n.3426_3446del
 gnomAD v4
14g.91305803G>ACA390623153CCDC88Cc.3319C>T (p.His1107Tyr)
c.3211C>T (p.His1071Tyr)
n.3447C>T
c.400C>T (p.His134Tyr)
n.3445C>T
14g.91305803G>CCA390623154CCDC88Cc.3319C>G (p.His1107Asp)
c.3211C>G (p.His1071Asp)
n.3447C>G
c.400C>G (p.His134Asp)
n.3445C>G
14g.91305803G>TCA390623155CCDC88Cc.3319C>A (p.His1107Asn)
c.3211C>A (p.His1071Asn)
n.3447C>A
c.400C>A (p.His134Asn)
n.3445C>A
14g.91305804C>ACA390623156CCDC88Cc.3318G>T (p.Glu1106Asp)
c.3210G>T (p.Glu1070Asp)
n.3446G>T
c.399G>T (p.Glu133Asp)
n.3444G>T
14g.91305804C=CA2154901321CCDC88Cc.3318G= (p.Glu1106=)
c.3210G= (p.Glu1070=)
n.3446G=
c.399G= (p.Glu133=)
n.3444G=
14g.91305804C>GCA390623157CCDC88Cc.3318G>C (p.Glu1106Asp)
c.3210G>C (p.Glu1070Asp)
n.3446G>C
c.399G>C (p.Glu133Asp)
n.3444G>C
 gnomAD v4
14g.91305804C>TCA487549057CCDC88Cc.3318G>A (p.Glu1106=)
c.3210G>A (p.Glu1070=)
n.3446G>A
c.399G>A (p.Glu133=)
n.3444G>A
 ClinVar dbSNP
14g.91305805T>ACA390623158CCDC88Cc.3317A>T (p.Glu1106Val)
c.3209A>T (p.Glu1070Val)
n.3445A>T
c.398A>T (p.Glu133Val)
n.3443A>T
14g.91305805T>CCA390623159CCDC88Cc.3317A>G (p.Glu1106Gly)
c.3209A>G (p.Glu1070Gly)
n.3445A>G
c.398A>G (p.Glu133Gly)
n.3443A>G
14g.91305805T>GCA390623160CCDC88Cc.3317A>C (p.Glu1106Ala)
c.3209A>C (p.Glu1070Ala)
n.3445A>C
c.398A>C (p.Glu133Ala)
n.3443A>C
14g.91305806C>ACA390623161CCDC88Cc.3316G>T (p.Glu1106Ter)
c.3208G>T (p.Glu1070Ter)
n.3444G>T
c.397G>T (p.Glu133Ter)
n.3442G>T
14g.91305806C>GCA390623162CCDC88Cc.3316G>C (p.Glu1106Gln)
c.3208G>C (p.Glu1070Gln)
n.3444G>C
c.397G>C (p.Glu133Gln)
n.3442G>C
 gnomAD v4
14g.91305806C>TCA390623163CCDC88Cc.3316G>A (p.Glu1106Lys)
c.3208G>A (p.Glu1070Lys)
n.3444G>A
c.397G>A (p.Glu133Lys)
n.3442G>A
14g.91305807delCA2626131661CCDC88Cc.3316del (p.Glu1106SerfsTer20)
c.3208del (p.Glu1070SerfsTer20)
n.3444del
c.397del (p.Glu133SerfsTer20)
n.3442del
 gnomAD v4
14g.91305807C>ACA390623165CCDC88Cc.3315G>T (p.Gln1105His)
c.3207G>T (p.Gln1069His)
n.3443G>T
c.396G>T (p.Gln132His)
n.3441G>T
14g.91305807C>GCA390623164CCDC88Cc.3315G>C (p.Gln1105His)
c.3207G>C (p.Gln1069His)
n.3443G>C
c.396G>C (p.Gln132His)
n.3441G>C
14g.91305807C>TCA487549061CCDC88Cc.3315G>A (p.Gln1105=)
c.3207G>A (p.Gln1069=)
n.3443G>A
c.396G>A (p.Gln132=)
n.3441G>A
14g.91305808T>ACA390623166CCDC88Cc.3314A>T (p.Gln1105Leu)
c.3206A>T (p.Gln1069Leu)
n.3442A>T
c.395A>T (p.Gln132Leu)
n.3440A>T
14g.91305808T>CCA390623167CCDC88Cc.3314A>G (p.Gln1105Arg)
c.3206A>G (p.Gln1069Arg)
n.3442A>G
c.395A>G (p.Gln132Arg)
n.3440A>G
 dbSNP gnomAD v3 gnomAD v4
14g.91305808T>GCA390623168CCDC88Cc.3314A>C (p.Gln1105Pro)
c.3206A>C (p.Gln1069Pro)
n.3442A>C
c.395A>C (p.Gln132Pro)
n.3440A>C
14g.91305808T=CA2154901327CCDC88Cc.3314A= (p.Gln1105=)
c.3206A= (p.Gln1069=)
n.3442A=
c.395A= (p.Gln132=)
n.3440A=
14g.91305809G>ACA390623169CCDC88Cc.3313C>T (p.Gln1105Ter)
c.3205C>T (p.Gln1069Ter)
n.3441C>T
c.394C>T (p.Gln132Ter)
n.3439C>T
14g.91305809G>CCA390623170CCDC88Cc.3313C>G (p.Gln1105Glu)
c.3205C>G (p.Gln1069Glu)
n.3441C>G
c.394C>G (p.Gln132Glu)
n.3439C>G
14g.91305809G>TCA390623171CCDC88Cc.3313C>A (p.Gln1105Lys)
c.3205C>A (p.Gln1069Lys)
n.3441C>A
c.394C>A (p.Gln132Lys)
n.3439C>A
14g.91305810C>ACA7309397CCDC88Cc.3312G>T (p.Leu1104=)
c.3204G>T (p.Leu1068=)
n.3440G>T
c.393G>T (p.Leu131=)
n.3438G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91305810C=CA2154901328CCDC88Cc.3312G= (p.Leu1104=)
c.3204G= (p.Leu1068=)
n.3440G=
c.393G= (p.Leu131=)
n.3438G=
14g.91305810C>GCA487549065CCDC88Cc.3312G>C (p.Leu1104=)
c.3204G>C (p.Leu1068=)
n.3440G>C
c.393G>C (p.Leu131=)
n.3438G>C
14g.91305810C>TCA487549066CCDC88Cc.3312G>A (p.Leu1104=)
c.3204G>A (p.Leu1068=)
n.3440G>A
c.393G>A (p.Leu131=)
n.3438G>A
 gnomAD v4
14g.91305811A>CCA390623172CCDC88Cc.3311T>G (p.Leu1104Arg)
c.3203T>G (p.Leu1068Arg)
n.3439T>G
c.392T>G (p.Leu131Arg)
n.3437T>G
14g.91305811A>GCA390623173CCDC88Cc.3311T>C (p.Leu1104Pro)
c.3203T>C (p.Leu1068Pro)
n.3439T>C
c.392T>C (p.Leu131Pro)
n.3437T>C
 gnomAD v4
14g.91305811A>TCA390623174CCDC88Cc.3311T>A (p.Leu1104Gln)
c.3203T>A (p.Leu1068Gln)
n.3439T>A
c.392T>A (p.Leu131Gln)
n.3437T>A
14g.91305812G>ACA487549068CCDC88Cc.3310C>T (p.Leu1104=)
c.3202C>T (p.Leu1068=)
n.3438C>T
c.391C>T (p.Leu131=)
n.3436C>T
14g.91305812G>CCA390623175CCDC88Cc.3310C>G (p.Leu1104Val)
c.3202C>G (p.Leu1068Val)
n.3438C>G
c.391C>G (p.Leu131Val)
n.3436C>G
14g.91305812G>TCA390623176CCDC88Cc.3310C>A (p.Leu1104Met)
c.3202C>A (p.Leu1068Met)
n.3438C>A
c.391C>A (p.Leu131Met)
n.3436C>A
14g.91305813G>ACA487549070CCDC88Cc.3309C>T (p.Phe1103=)
c.3201C>T (p.Phe1067=)
n.3437C>T
c.390C>T (p.Phe130=)
n.3435C>T
 dbSNP gnomAD v2 gnomAD v4
14g.91305813G>CCA390623177CCDC88Cc.3309C>G (p.Phe1103Leu)
c.3201C>G (p.Phe1067Leu)
n.3437C>G
c.390C>G (p.Phe130Leu)
n.3435C>G
14g.91305813G=CA2154901331CCDC88Cc.3309C= (p.Phe1103=)
c.3201C= (p.Phe1067=)
n.3437C=
c.390C= (p.Phe130=)
n.3435C=
14g.91305813G>TCA390623178CCDC88Cc.3309C>A (p.Phe1103Leu)
c.3201C>A (p.Phe1067Leu)
n.3437C>A
c.390C>A (p.Phe130Leu)
n.3435C>A
14g.91305814A=CA2154901335CCDC88Cc.3308T= (p.Phe1103=)
c.3200T= (p.Phe1067=)
n.3436T=
c.389T= (p.Phe130=)
n.3434T=
14g.91305814A>CCA390623180CCDC88Cc.3308T>G (p.Phe1103Cys)
c.3200T>G (p.Phe1067Cys)
n.3436T>G
c.389T>G (p.Phe130Cys)
n.3434T>G
14g.91305814A>GCA390623181CCDC88Cc.3308T>C (p.Phe1103Ser)
c.3200T>C (p.Phe1067Ser)
n.3436T>C
c.389T>C (p.Phe130Ser)
n.3434T>C
14g.91305814A>TCA390623179CCDC88Cc.3308T>A (p.Phe1103Tyr)
c.3200T>A (p.Phe1067Tyr)
n.3436T>A
c.389T>A (p.Phe130Tyr)
n.3434T>A
14g.91305815A>CCA390623182CCDC88Cc.3307T>G (p.Phe1103Val)
c.3199T>G (p.Phe1067Val)
n.3435T>G
c.388T>G (p.Phe130Val)
n.3433T>G
14g.91305815A>GCA390623184CCDC88Cc.3307T>C (p.Phe1103Leu)
c.3199T>C (p.Phe1067Leu)
n.3435T>C
c.388T>C (p.Phe130Leu)
n.3433T>C
14g.91305815A>TCA390623183CCDC88Cc.3307T>A (p.Phe1103Ile)
c.3199T>A (p.Phe1067Ile)
n.3435T>A
c.388T>A (p.Phe130Ile)
n.3433T>A
14g.91305815_91305820dupCA7309398CCDC88Cc.3302_3307dup (p.Ala1102_Phe1103insCysAla)
c.3194_3199dup (p.Ala1066_Phe1067insCysAla)
n.3430_3435dup
c.383_388dup (p.Ala129_Phe130insCysAla)
n.3428_3433dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305816G>ACA487549074CCDC88Cc.3306C>T (p.Ala1102=)
c.3198C>T (p.Ala1066=)
n.3434C>T
c.387C>T (p.Ala129=)
n.3432C>T
 ClinVar gnomAD v4
14g.91305816G>CCA487549075CCDC88Cc.3306C>G (p.Ala1102=)
c.3198C>G (p.Ala1066=)
n.3434C>G
c.387C>G (p.Ala129=)
n.3432C>G
14g.91305816G>TCA487549076CCDC88Cc.3306C>A (p.Ala1102=)
c.3198C>A (p.Ala1066=)
n.3434C>A
c.387C>A (p.Ala129=)
n.3432C>A
14g.91305817G>ACA390623185CCDC88Cc.3305C>T (p.Ala1102Val)
c.3197C>T (p.Ala1066Val)
n.3433C>T
c.386C>T (p.Ala129Val)
n.3431C>T
 gnomAD v4
14g.91305817G>CCA390623186CCDC88Cc.3305C>G (p.Ala1102Gly)
c.3197C>G (p.Ala1066Gly)
n.3433C>G
c.386C>G (p.Ala129Gly)
n.3431C>G
14g.91305817G>TCA390623187CCDC88Cc.3305C>A (p.Ala1102Asp)
c.3197C>A (p.Ala1066Asp)
n.3433C>A
c.386C>A (p.Ala129Asp)
n.3431C>A
14g.91305818C>ACA390623188CCDC88Cc.3304G>T (p.Ala1102Ser)
c.3196G>T (p.Ala1066Ser)
n.3432G>T
c.385G>T (p.Ala129Ser)
n.3430G>T
14g.91305818C=CA2154901344CCDC88Cc.3304G= (p.Ala1102=)
c.3196G= (p.Ala1066=)
n.3432G=
c.385G= (p.Ala129=)
n.3430G=
14g.91305818C>GCA390623189CCDC88Cc.3304G>C (p.Ala1102Pro)
c.3196G>C (p.Ala1066Pro)
n.3432G>C
c.385G>C (p.Ala129Pro)
n.3430G>C
14g.91305818C>TCA390623190CCDC88Cc.3304G>A (p.Ala1102Thr)
c.3196G>A (p.Ala1066Thr)
n.3432G>A
c.385G>A (p.Ala129Thr)
n.3430G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91305819G>ACA7309399CCDC88Cc.3303C>T (p.Ser1101=)
c.3195C>T (p.Ser1065=)
n.3431C>T
c.384C>T (p.Ser128=)
n.3429C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305819G>CCA390623191CCDC88Cc.3303C>G (p.Ser1101Arg)
c.3195C>G (p.Ser1065Arg)
n.3431C>G
c.384C>G (p.Ser128Arg)
n.3429C>G
14g.91305819G=CA2154901347CCDC88Cc.3303C= (p.Ser1101=)
c.3195C= (p.Ser1065=)
n.3431C=
c.384C= (p.Ser128=)
n.3429C=
14g.91305819G>TCA390623192CCDC88Cc.3303C>A (p.Ser1101Arg)
c.3195C>A (p.Ser1065Arg)
n.3431C>A
c.384C>A (p.Ser128Arg)
n.3429C>A
14g.91305820C>ACA390623193CCDC88Cc.3302G>T (p.Ser1101Ile)
c.3194G>T (p.Ser1065Ile)
n.3430G>T
c.383G>T (p.Ser128Ile)
n.3428G>T
14g.91305820C>GCA390623194CCDC88Cc.3302G>C (p.Ser1101Thr)
c.3194G>C (p.Ser1065Thr)
n.3430G>C
c.383G>C (p.Ser128Thr)
n.3428G>C
14g.91305820C>TCA390623195CCDC88Cc.3302G>A (p.Ser1101Asn)
c.3194G>A (p.Ser1065Asn)
n.3430G>A
c.383G>A (p.Ser128Asn)
n.3428G>A
 ClinVar
14g.91305822_91305823delCA2580613740CCDC88Cc.3301_3302del (p.Ser1101ArgfsTer?)
c.3193_3194del (p.Ser1065ArgfsTer?)
n.3429_3430del
c.382_383del (p.Ser128ArgfsTer?)
n.3427_3428del
 ClinVar
14g.91305821T>ACA390623198CCDC88Cc.3301A>T (p.Ser1101Cys)
c.3193A>T (p.Ser1065Cys)
n.3429A>T
c.382A>T (p.Ser128Cys)
n.3427A>T
14g.91305821T>CCA390623196CCDC88Cc.3301A>G (p.Ser1101Gly)
c.3193A>G (p.Ser1065Gly)
n.3429A>G
c.382A>G (p.Ser128Gly)
n.3427A>G
14g.91305821T>GCA390623197CCDC88Cc.3301A>C (p.Ser1101Arg)
c.3193A>C (p.Ser1065Arg)
n.3429A>C
c.382A>C (p.Ser128Arg)
n.3427A>C
14g.91305822C>ACA390623199CCDC88Cc.3300G>T (p.Gln1100His)
c.3192G>T (p.Gln1064His)
n.3428G>T
c.381G>T (p.Gln127His)
n.3426G>T
14g.91305822C>GCA390623200CCDC88Cc.3300G>C (p.Gln1100His)
c.3192G>C (p.Gln1064His)
n.3428G>C
c.381G>C (p.Gln127His)
n.3426G>C
14g.91305822C>TCA487549081CCDC88Cc.3300G>A (p.Gln1100=)
c.3192G>A (p.Gln1064=)
n.3428G>A
c.381G>A (p.Gln127=)
n.3426G>A
14g.91305823T>ACA390623201CCDC88Cc.3299A>T (p.Gln1100Leu)
c.3191A>T (p.Gln1064Leu)
n.3427A>T
c.380A>T (p.Gln127Leu)
n.3425A>T
14g.91305823T>CCA390623202CCDC88Cc.3299A>G (p.Gln1100Arg)
c.3191A>G (p.Gln1064Arg)
n.3427A>G
c.380A>G (p.Gln127Arg)
n.3425A>G
14g.91305823T>GCA390623203CCDC88Cc.3299A>C (p.Gln1100Pro)
c.3191A>C (p.Gln1064Pro)
n.3427A>C
c.380A>C (p.Gln127Pro)
n.3425A>C
14g.91305824G>ACA390623204CCDC88Cc.3298C>T (p.Gln1100Ter)
c.3190C>T (p.Gln1064Ter)
n.3426C>T
c.379C>T (p.Gln127Ter)
n.3424C>T
 gnomAD v4
14g.91305824G>CCA390623205CCDC88Cc.3298C>G (p.Gln1100Glu)
c.3190C>G (p.Gln1064Glu)
n.3426C>G
c.379C>G (p.Gln127Glu)
n.3424C>G
14g.91305824G>TCA390623206CCDC88Cc.3298C>A (p.Gln1100Lys)
c.3190C>A (p.Gln1064Lys)
n.3426C>A
c.379C>A (p.Gln127Lys)
n.3424C>A
14g.91305825T>ACA390623207CCDC88Cc.3297A>T (p.Lys1099Asn)
c.3189A>T (p.Lys1063Asn)
n.3425A>T
c.378A>T (p.Lys126Asn)
n.3423A>T
14g.91305825T>CCA487549082CCDC88Cc.3297A>G (p.Lys1099=)
c.3189A>G (p.Lys1063=)
n.3425A>G
c.378A>G (p.Lys126=)
n.3423A>G
 ClinVar gnomAD v4
14g.91305825T>GCA390623208CCDC88Cc.3297A>C (p.Lys1099Asn)
c.3189A>C (p.Lys1063Asn)
n.3425A>C
c.378A>C (p.Lys126Asn)
n.3423A>C
 gnomAD v4
14g.91305826T>ACA390623211CCDC88Cc.3296A>T (p.Lys1099Ile)
c.3188A>T (p.Lys1063Ile)
n.3424A>T
c.377A>T (p.Lys126Ile)
n.3422A>T
14g.91305826T>CCA390623210CCDC88Cc.3296A>G (p.Lys1099Arg)
c.3188A>G (p.Lys1063Arg)
n.3424A>G
c.377A>G (p.Lys126Arg)
n.3422A>G
14g.91305826T>GCA390623209CCDC88Cc.3296A>C (p.Lys1099Thr)
c.3188A>C (p.Lys1063Thr)
n.3424A>C
c.377A>C (p.Lys126Thr)
n.3422A>C
14g.91305827T>ACA390623212CCDC88Cc.3295A>T (p.Lys1099Ter)
c.3187A>T (p.Lys1063Ter)
n.3423A>T
c.376A>T (p.Lys126Ter)
n.3421A>T
14g.91305827T>CCA390623213CCDC88Cc.3295A>G (p.Lys1099Glu)
c.3187A>G (p.Lys1063Glu)
n.3423A>G
c.376A>G (p.Lys126Glu)
n.3421A>G
14g.91305827T>GCA390623214CCDC88Cc.3295A>C (p.Lys1099Gln)
c.3187A>C (p.Lys1063Gln)
n.3423A>C
c.376A>C (p.Lys126Gln)
n.3421A>C
14g.91305828C>ACA390623215CCDC88Cc.3294G>T (p.Gln1098His)
c.3186G>T (p.Gln1062His)
n.3422G>T
c.375G>T (p.Gln125His)
n.3420G>T
14g.91305828C>GCA390623216CCDC88Cc.3294G>C (p.Gln1098His)
c.3186G>C (p.Gln1062His)
n.3422G>C
c.375G>C (p.Gln125His)
n.3420G>C
14g.91305828C>TCA487549084CCDC88Cc.3294G>A (p.Gln1098=)
c.3186G>A (p.Gln1062=)
n.3422G>A
c.375G>A (p.Gln125=)
n.3420G>A
14g.91305829T>ACA390623217CCDC88Cc.3293A>T (p.Gln1098Leu)
c.3185A>T (p.Gln1062Leu)
n.3421A>T
c.374A>T (p.Gln125Leu)
n.3419A>T
14g.91305829T>CCA390623218CCDC88Cc.3293A>G (p.Gln1098Arg)
c.3185A>G (p.Gln1062Arg)
n.3421A>G
c.374A>G (p.Gln125Arg)
n.3419A>G
14g.91305829T>GCA390623220CCDC88Cc.3293A>C (p.Gln1098Pro)
c.3185A>C (p.Gln1062Pro)
n.3421A>C
c.374A>C (p.Gln125Pro)
n.3419A>C
14g.91305830G>ACA390623222CCDC88Cc.3292C>T (p.Gln1098Ter)
c.3184C>T (p.Gln1062Ter)
n.3420C>T
c.373C>T (p.Gln125Ter)
n.3418C>T
14g.91305830G>CCA390623224CCDC88Cc.3292C>G (p.Gln1098Glu)
c.3184C>G (p.Gln1062Glu)
n.3420C>G
c.373C>G (p.Gln125Glu)
n.3418C>G
14g.91305830G>TCA390623225CCDC88Cc.3292C>A (p.Gln1098Lys)
c.3184C>A (p.Gln1062Lys)
n.3420C>A
c.373C>A (p.Gln125Lys)
n.3418C>A
14g.91305831C>ACA487549086CCDC88Cc.3291G>T (p.Leu1097=)
c.3183G>T (p.Leu1061=)
n.3419G>T
c.372G>T (p.Leu124=)
n.3417G>T
14g.91305831C>GCA487549087CCDC88Cc.3291G>C (p.Leu1097=)
c.3183G>C (p.Leu1061=)
n.3419G>C
c.372G>C (p.Leu124=)
n.3417G>C
14g.91305831C>TCA487549088CCDC88Cc.3291G>A (p.Leu1097=)
c.3183G>A (p.Leu1061=)
n.3419G>A
c.372G>A (p.Leu124=)
n.3417G>A
14g.91305832A>CCA390623227CCDC88Cc.3290T>G (p.Leu1097Arg)
c.3182T>G (p.Leu1061Arg)
n.3418T>G
c.371T>G (p.Leu124Arg)
n.3416T>G
14g.91305832A>GCA390623229CCDC88Cc.3290T>C (p.Leu1097Pro)
c.3182T>C (p.Leu1061Pro)
n.3418T>C
c.371T>C (p.Leu124Pro)
n.3416T>C
 ClinVar
14g.91305832A>TCA390623231CCDC88Cc.3290T>A (p.Leu1097Gln)
c.3182T>A (p.Leu1061Gln)
n.3418T>A
c.371T>A (p.Leu124Gln)
n.3416T>A
14g.91305833G>ACA487549090CCDC88Cc.3289C>T (p.Leu1097=)
c.3181C>T (p.Leu1061=)
n.3417C>T
c.370C>T (p.Leu124=)
n.3415C>T
14g.91305833G>CCA390623232CCDC88Cc.3289C>G (p.Leu1097Val)
c.3181C>G (p.Leu1061Val)
n.3417C>G
c.370C>G (p.Leu124Val)
n.3415C>G
14g.91305833G=CA2154901348CCDC88Cc.3289C= (p.Leu1097=)
c.3181C= (p.Leu1061=)
n.3417C=
c.370C= (p.Leu124=)
n.3415C=
14g.91305833G>TCA390623233CCDC88Cc.3289C>A (p.Leu1097Met)
c.3181C>A (p.Leu1061Met)
n.3417C>A
c.370C>A (p.Leu124Met)
n.3415C>A
 dbSNP
14g.91305834T>ACA487549092CCDC88Cc.3288A>T (p.Thr1096=)
c.3180A>T (p.Thr1060=)
n.3416A>T
c.369A>T (p.Thr123=)
n.3414A>T
14g.91305834T>CCA7309400CCDC88Cc.3288A>G (p.Thr1096=)
c.3180A>G (p.Thr1060=)
n.3416A>G
c.369A>G (p.Thr123=)
n.3414A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305834T>GCA487549094CCDC88Cc.3288A>C (p.Thr1096=)
c.3180A>C (p.Thr1060=)
n.3416A>C
c.369A>C (p.Thr123=)
n.3414A>C
14g.91305834T=CA2154901352CCDC88Cc.3288A= (p.Thr1096=)
c.3180A= (p.Thr1060=)
n.3416A=
c.369A= (p.Thr123=)
n.3414A=
14g.91305834dupCA616112426CCDC88Cc.3288dup (p.Leu1097ThrfsTer?)
c.3180dup (p.Leu1061ThrfsTer?)
n.3416dup
c.369dup (p.Leu124ThrfsTer?)
n.3414dup
 dbSNP gnomAD v2 gnomAD v4
14g.91305835G>ACA390623238CCDC88Cc.3287C>T (p.Thr1096Ile)
c.3179C>T (p.Thr1060Ile)
n.3415C>T
c.368C>T (p.Thr123Ile)
n.3413C>T
14g.91305835G>CCA390623239CCDC88Cc.3287C>G (p.Thr1096Arg)
c.3179C>G (p.Thr1060Arg)
n.3415C>G
c.368C>G (p.Thr123Arg)
n.3413C>G
14g.91305835G>TCA390623241CCDC88Cc.3287C>A (p.Thr1096Lys)
c.3179C>A (p.Thr1060Lys)
n.3415C>A
c.368C>A (p.Thr123Lys)
n.3413C>A
14g.91305836T>ACA390623242CCDC88Cc.3286A>T (p.Thr1096Ser)
c.3178A>T (p.Thr1060Ser)
n.3414A>T
c.367A>T (p.Thr123Ser)
n.3412A>T
14g.91305836T>CCA390623244CCDC88Cc.3286A>G (p.Thr1096Ala)
c.3178A>G (p.Thr1060Ala)
n.3414A>G
c.367A>G (p.Thr123Ala)
n.3412A>G
14g.91305836T>GCA390623246CCDC88Cc.3286A>C (p.Thr1096Pro)
c.3178A>C (p.Thr1060Pro)
n.3414A>C
c.367A>C (p.Thr123Pro)
n.3412A>C
14g.91305837C>ACA390623248CCDC88Cc.3285G>T (p.Leu1095Phe)
c.3177G>T (p.Leu1059Phe)
n.3413G>T
c.366G>T (p.Leu122Phe)
n.3411G>T
14g.91305837C>GCA390623250CCDC88Cc.3285G>C (p.Leu1095Phe)
c.3177G>C (p.Leu1059Phe)
n.3413G>C
c.366G>C (p.Leu122Phe)
n.3411G>C
14g.91305837C>TCA487549097CCDC88Cc.3285G>A (p.Leu1095=)
c.3177G>A (p.Leu1059=)
n.3413G>A
c.366G>A (p.Leu122=)
n.3411G>A
14g.91305838A>CCA390623252CCDC88Cc.3284T>G (p.Leu1095Trp)
c.3176T>G (p.Leu1059Trp)
n.3412T>G
c.365T>G (p.Leu122Trp)
n.3410T>G
14g.91305838A>GCA390623253CCDC88Cc.3284T>C (p.Leu1095Ser)
c.3176T>C (p.Leu1059Ser)
n.3412T>C
c.365T>C (p.Leu122Ser)
n.3410T>C
14g.91305838A>TCA390623255CCDC88Cc.3284T>A (p.Leu1095Ter)
c.3176T>A (p.Leu1059Ter)
n.3412T>A
c.365T>A (p.Leu122Ter)
n.3410T>A
14g.91305839A>CCA390623259CCDC88Cc.3283T>G (p.Leu1095Val)
c.3175T>G (p.Leu1059Val)
n.3411T>G
c.364T>G (p.Leu122Val)
n.3409T>G
14g.91305839A>GCA487549099CCDC88Cc.3283T>C (p.Leu1095=)
c.3175T>C (p.Leu1059=)
n.3411T>C
c.364T>C (p.Leu122=)
n.3409T>C
 gnomAD v4
14g.91305839A>TCA390623257CCDC88Cc.3283T>A (p.Leu1095Met)
c.3175T>A (p.Leu1059Met)
n.3411T>A
c.364T>A (p.Leu122Met)
n.3409T>A
14g.91305840G>ACA487549101CCDC88Cc.3282C>T (p.Ile1094=)
c.3174C>T (p.Ile1058=)
n.3410C>T
c.363C>T (p.Ile121=)
n.3408C>T
14g.91305840G>CCA390623261CCDC88Cc.3282C>G (p.Ile1094Met)
c.3174C>G (p.Ile1058Met)
n.3410C>G
c.363C>G (p.Ile121Met)
n.3408C>G
14g.91305840G>TCA487549102CCDC88Cc.3282C>A (p.Ile1094=)
c.3174C>A (p.Ile1058=)
n.3410C>A
c.363C>A (p.Ile121=)
n.3408C>A
14g.91305841A=CA2154901354CCDC88Cc.3281T= (p.Ile1094=)
c.3173T= (p.Ile1058=)
n.3409T=
c.362T= (p.Ile121=)
n.3407T=
14g.91305841A>CCA390623266CCDC88Cc.3281T>G (p.Ile1094Ser)
c.3173T>G (p.Ile1058Ser)
n.3409T>G
c.362T>G (p.Ile121Ser)
n.3407T>G
14g.91305841A>GCA390623263CCDC88Cc.3281T>C (p.Ile1094Thr)
c.3173T>C (p.Ile1058Thr)
n.3409T>C
c.362T>C (p.Ile121Thr)
n.3407T>C
14g.91305841A>TCA390623264CCDC88Cc.3281T>A (p.Ile1094Asn)
c.3173T>A (p.Ile1058Asn)
n.3409T>A
c.362T>A (p.Ile121Asn)
n.3407T>A
 dbSNP
14g.91305842T>ACA390623269CCDC88Cc.3280A>T (p.Ile1094Phe)
c.3172A>T (p.Ile1058Phe)
n.3408A>T
c.361A>T (p.Ile121Phe)
n.3406A>T
14g.91305842T>CCA390623270CCDC88Cc.3280A>G (p.Ile1094Val)
c.3172A>G (p.Ile1058Val)
n.3408A>G
c.361A>G (p.Ile121Val)
n.3406A>G
14g.91305842T>GCA390623271CCDC88Cc.3280A>C (p.Ile1094Leu)
c.3172A>C (p.Ile1058Leu)
n.3408A>C
c.361A>C (p.Ile121Leu)
n.3406A>C
14g.91305843C>ACA390623273CCDC88Cc.3279G>T (p.Gln1093His)
c.3171G>T (p.Gln1057His)
n.3407G>T
c.360G>T (p.Gln120His)
n.3405G>T
14g.91305843C>GCA390623275CCDC88Cc.3279G>C (p.Gln1093His)
c.3171G>C (p.Gln1057His)
n.3407G>C
c.360G>C (p.Gln120His)
n.3405G>C
14g.91305843C>TCA487549103CCDC88Cc.3279G>A (p.Gln1093=)
c.3171G>A (p.Gln1057=)
n.3407G>A
c.360G>A (p.Gln120=)
n.3405G>A
14g.91305844T>ACA390623277CCDC88Cc.3278A>T (p.Gln1093Leu)
c.3170A>T (p.Gln1057Leu)
n.3406A>T
c.359A>T (p.Gln120Leu)
n.3404A>T
14g.91305844T>CCA390623279CCDC88Cc.3278A>G (p.Gln1093Arg)
c.3170A>G (p.Gln1057Arg)
n.3406A>G
c.359A>G (p.Gln120Arg)
n.3404A>G
14g.91305844T>GCA390623281CCDC88Cc.3278A>C (p.Gln1093Pro)
c.3170A>C (p.Gln1057Pro)
n.3406A>C
c.359A>C (p.Gln120Pro)
n.3404A>C
 COSMIC COSMIC
14g.91305845G>ACA390623284CCDC88Cc.3277C>T (p.Gln1093Ter)
c.3169C>T (p.Gln1057Ter)
n.3405C>T
c.358C>T (p.Gln120Ter)
n.3403C>T
14g.91305845G>CCA390623285CCDC88Cc.3277C>G (p.Gln1093Glu)
c.3169C>G (p.Gln1057Glu)
n.3405C>G
c.358C>G (p.Gln120Glu)
n.3403C>G
14g.91305845G>TCA390623287CCDC88Cc.3277C>A (p.Gln1093Lys)
c.3169C>A (p.Gln1057Lys)
n.3405C>A
c.358C>A (p.Gln120Lys)
n.3403C>A
14g.91305846G>ACA487549104CCDC88Cc.3276C>T (p.Ser1092=)
c.3168C>T (p.Ser1056=)
n.3404C>T
c.357C>T (p.Ser119=)
n.3402C>T
 gnomAD v4
14g.91305846G>CCA390623291CCDC88Cc.3276C>G (p.Ser1092Arg)
c.3168C>G (p.Ser1056Arg)
n.3404C>G
c.357C>G (p.Ser119Arg)
n.3402C>G
14g.91305846G=CA2154901356CCDC88Cc.3276C= (p.Ser1092=)
c.3168C= (p.Ser1056=)
n.3404C=
c.357C= (p.Ser119=)
n.3402C=
14g.91305846G>TCA390623289CCDC88Cc.3276C>A (p.Ser1092Arg)
c.3168C>A (p.Ser1056Arg)
n.3404C>A
c.357C>A (p.Ser119Arg)
n.3402C>A
14g.91305846_91305847insTGACAGGTCA616112427CCDC88Cc.3275_3276insACCTGTCA (p.Ser1092ArgfsTer7)
c.3167_3168insACCTGTCA (p.Ser1056ArgfsTer7)
n.3403_3404insACCTGTCA
c.356_357insACCTGTCA (p.Ser119ArgfsTer7)
n.3401_3402insACCTGTCA
 dbSNP gnomAD v2
14g.91305847C>ACA390623294CCDC88Cc.3275G>T (p.Ser1092Ile)
c.3167G>T (p.Ser1056Ile)
n.3403G>T
c.356G>T (p.Ser119Ile)
n.3401G>T
14g.91305847C=CA2154901359CCDC88Cc.3275G= (p.Ser1092=)
c.3167G= (p.Ser1056=)
n.3403G=
c.356G= (p.Ser119=)
n.3401G=
14g.91305847C>GCA390623295CCDC88Cc.3275G>C (p.Ser1092Thr)
c.3167G>C (p.Ser1056Thr)
n.3403G>C
c.356G>C (p.Ser119Thr)
n.3401G>C
14g.91305847C>TCA390623297CCDC88Cc.3275G>A (p.Ser1092Asn)
c.3167G>A (p.Ser1056Asn)
n.3403G>A
c.356G>A (p.Ser119Asn)
n.3401G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91305848T>ACA390623299CCDC88Cc.3274A>T (p.Ser1092Cys)
c.3166A>T (p.Ser1056Cys)
n.3402A>T
c.355A>T (p.Ser119Cys)
n.3400A>T
14g.91305848T>CCA390623301CCDC88Cc.3274A>G (p.Ser1092Gly)
c.3166A>G (p.Ser1056Gly)
n.3402A>G
c.355A>G (p.Ser119Gly)
n.3400A>G
14g.91305848T>GCA390623302CCDC88Cc.3274A>C (p.Ser1092Arg)
c.3166A>C (p.Ser1056Arg)
n.3402A>C
c.355A>C (p.Ser119Arg)
n.3400A>C
14g.91305849G>ACA487549107CCDC88Cc.3273C>T (p.Ser1091=)
c.3165C>T (p.Ser1055=)
n.3401C>T
c.354C>T (p.Ser118=)
n.3399C>T
14g.91305849G>CCA390623304CCDC88Cc.3273C>G (p.Ser1091Arg)
c.3165C>G (p.Ser1055Arg)
n.3401C>G
c.354C>G (p.Ser118Arg)
n.3399C>G
14g.91305849G>TCA390623306CCDC88Cc.3273C>A (p.Ser1091Arg)
c.3165C>A (p.Ser1055Arg)
n.3401C>A
c.354C>A (p.Ser118Arg)
n.3399C>A
14g.91305850C>ACA390623308CCDC88Cc.3272G>T (p.Ser1091Ile)
c.3164G>T (p.Ser1055Ile)
n.3400G>T
c.353G>T (p.Ser118Ile)
n.3398G>T
14g.91305850C=CA2154901361CCDC88Cc.3272G= (p.Ser1091=)
c.3164G= (p.Ser1055=)
n.3400G=
c.353G= (p.Ser118=)
n.3398G=
14g.91305850C>GCA390623309CCDC88Cc.3272G>C (p.Ser1091Thr)
c.3164G>C (p.Ser1055Thr)
n.3400G>C
c.353G>C (p.Ser118Thr)
n.3398G>C
 dbSNP gnomAD v2
14g.91305850C>TCA390623311CCDC88Cc.3272G>A (p.Ser1091Asn)
c.3164G>A (p.Ser1055Asn)
n.3400G>A
c.353G>A (p.Ser118Asn)
n.3398G>A
14g.91305851T>ACA390623313CCDC88Cc.3271A>T (p.Ser1091Cys)
c.3163A>T (p.Ser1055Cys)
n.3399A>T
c.352A>T (p.Ser118Cys)
n.3397A>T
14g.91305851T>CCA7309401CCDC88Cc.3271A>G (p.Ser1091Gly)
c.3163A>G (p.Ser1055Gly)
n.3399A>G
c.352A>G (p.Ser118Gly)
n.3397A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.91305851T>GCA390623316CCDC88Cc.3271A>C (p.Ser1091Arg)
c.3163A>C (p.Ser1055Arg)
n.3399A>C
c.352A>C (p.Ser118Arg)
n.3397A>C
14g.91305851T=CA2154901363CCDC88Cc.3271A= (p.Ser1091=)
c.3163A= (p.Ser1055=)
n.3399A=
c.352A= (p.Ser118=)
n.3397A=
14g.91305852G>ACA487549110CCDC88Cc.3270C>T (p.Phe1090=)
c.3162C>T (p.Phe1054=)
n.3398C>T
c.351C>T (p.Phe117=)
n.3396C>T
 dbSNP gnomAD v3 gnomAD v4
14g.91305852G>CCA390623319CCDC88Cc.3270C>G (p.Phe1090Leu)
c.3162C>G (p.Phe1054Leu)
n.3398C>G
c.351C>G (p.Phe117Leu)
n.3396C>G
 gnomAD v4
14g.91305852G=CA2154901366CCDC88Cc.3270C= (p.Phe1090=)
c.3162C= (p.Phe1054=)
n.3398C=
c.351C= (p.Phe117=)
n.3396C=
14g.91305852G>TCA390623320CCDC88Cc.3270C>A (p.Phe1090Leu)
c.3162C>A (p.Phe1054Leu)
n.3398C>A
c.351C>A (p.Phe117Leu)
n.3396C>A
14g.91305853A=CA2154901369CCDC88Cc.3269T= (p.Phe1090=)
c.3161T= (p.Phe1054=)
n.3397T=
c.350T= (p.Phe117=)
n.3395T=
14g.91305853A>CCA390623322CCDC88Cc.3269T>G (p.Phe1090Cys)
c.3161T>G (p.Phe1054Cys)
n.3397T>G
c.350T>G (p.Phe117Cys)
n.3395T>G
14g.91305853A>GCA390623324CCDC88Cc.3269T>C (p.Phe1090Ser)
c.3161T>C (p.Phe1054Ser)
n.3397T>C
c.350T>C (p.Phe117Ser)
n.3395T>C
14g.91305853A>TCA390623326CCDC88Cc.3269T>A (p.Phe1090Tyr)
c.3161T>A (p.Phe1054Tyr)
n.3397T>A
c.350T>A (p.Phe117Tyr)
n.3395T>A
 dbSNP gnomAD v2
14g.91305854A=CA2154901372CCDC88Cc.3268T= (p.Phe1090=)
c.3160T= (p.Phe1054=)
n.3396T=
c.349T= (p.Phe117=)
n.3394T=
14g.91305854A>CCA390623327CCDC88Cc.3268T>G (p.Phe1090Val)
c.3160T>G (p.Phe1054Val)
n.3396T>G
c.349T>G (p.Phe117Val)
n.3394T>G
 dbSNP gnomAD v2
14g.91305854A>GCA390623329CCDC88Cc.3268T>C (p.Phe1090Leu)
c.3160T>C (p.Phe1054Leu)
n.3396T>C
c.349T>C (p.Phe117Leu)
n.3394T>C
14g.91305854A>TCA390623330CCDC88Cc.3268T>A (p.Phe1090Ile)
c.3160T>A (p.Phe1054Ile)
n.3396T>A
c.349T>A (p.Phe117Ile)
n.3394T>A
14g.91305855G>ACA487549112CCDC88Cc.3267C>T (p.Thr1089=)
c.3159C>T (p.Thr1053=)
n.3395C>T
c.348C>T (p.Thr116=)
n.3393C>T
14g.91305855G>CCA487549114CCDC88Cc.3267C>G (p.Thr1089=)
c.3159C>G (p.Thr1053=)
n.3395C>G
c.348C>G (p.Thr116=)
n.3393C>G
14g.91305855G>TCA487549116CCDC88Cc.3267C>A (p.Thr1089=)
c.3159C>A (p.Thr1053=)
n.3395C>A
c.348C>A (p.Thr116=)
n.3393C>A
14g.91305856G>ACA390623333CCDC88Cc.3266C>T (p.Thr1089Ile)
c.3158C>T (p.Thr1053Ile)
n.3394C>T
c.347C>T (p.Thr116Ile)
n.3392C>T
14g.91305856G>CCA390623334CCDC88Cc.3266C>G (p.Thr1089Ser)
c.3158C>G (p.Thr1053Ser)
n.3394C>G
c.347C>G (p.Thr116Ser)
n.3392C>G
14g.91305856G>TCA390623336CCDC88Cc.3266C>A (p.Thr1089Asn)
c.3158C>A (p.Thr1053Asn)
n.3394C>A
c.347C>A (p.Thr116Asn)
n.3392C>A
14g.91305857delCA645592826CCDC88Cc.3265del (p.Thr1089ProfsTer7)
c.3157del (p.Thr1053ProfsTer7)
n.3393del
c.346del (p.Thr116ProfsTer7)
n.3391del
 COSMIC COSMIC
14g.91305857T>ACA390623339CCDC88Cc.3265A>T (p.Thr1089Ser)
c.3157A>T (p.Thr1053Ser)
n.3393A>T
c.346A>T (p.Thr116Ser)
n.3391A>T
14g.91305857T>CCA390623340CCDC88Cc.3265A>G (p.Thr1089Ala)
c.3157A>G (p.Thr1053Ala)
n.3393A>G
c.346A>G (p.Thr116Ala)
n.3391A>G
14g.91305857T>GCA390623342CCDC88Cc.3265A>C (p.Thr1089Pro)
c.3157A>C (p.Thr1053Pro)
n.3393A>C
c.346A>C (p.Thr116Pro)
n.3391A>C
14g.91305858C>ACA487549117CCDC88Cc.3264G>T (p.Val1088=)
c.3156G>T (p.Val1052=)
n.3392G>T
c.345G>T (p.Val115=)
n.3390G>T
14g.91305858C>GCA487549118CCDC88Cc.3264G>C (p.Val1088=)
c.3156G>C (p.Val1052=)
n.3392G>C
c.345G>C (p.Val115=)
n.3390G>C
14g.91305858C>TCA487549119CCDC88Cc.3264G>A (p.Val1088=)
c.3156G>A (p.Val1052=)
n.3392G>A
c.345G>A (p.Val115=)
n.3390G>A
14g.91305859A>CCA390623346CCDC88Cc.3263T>G (p.Val1088Gly)
c.3155T>G (p.Val1052Gly)
n.3391T>G
c.344T>G (p.Val115Gly)
n.3389T>G
14g.91305859A>GCA390623349CCDC88Cc.3263T>C (p.Val1088Ala)
c.3155T>C (p.Val1052Ala)
n.3391T>C
c.344T>C (p.Val115Ala)
n.3389T>C
14g.91305859A>TCA390623345CCDC88Cc.3263T>A (p.Val1088Glu)
c.3155T>A (p.Val1052Glu)
n.3391T>A
c.344T>A (p.Val115Glu)
n.3389T>A
14g.91305860C>ACA390623351CCDC88Cc.3262G>T (p.Val1088Leu)
c.3154G>T (p.Val1052Leu)
n.3390G>T
c.343G>T (p.Val115Leu)
n.3388G>T
14g.91305860C=CA2154901374CCDC88Cc.3262G= (p.Val1088=)
c.3154G= (p.Val1052=)
n.3390G=
c.343G= (p.Val115=)
n.3388G=
14g.91305860C>GCA390623353CCDC88Cc.3262G>C (p.Val1088Leu)
c.3154G>C (p.Val1052Leu)
n.3390G>C
c.343G>C (p.Val115Leu)
n.3388G>C
14g.91305860C>TCA7309402CCDC88Cc.3262G>A (p.Val1088Met)
c.3154G>A (p.Val1052Met)
n.3390G>A
c.343G>A (p.Val115Met)
n.3388G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305861G>ACA7309403CCDC88Cc.3261C>T (p.Asn1087=)
c.3153C>T (p.Asn1051=)
n.3389C>T
c.342C>T (p.Asn114=)
n.3387C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305861G>CCA390623356CCDC88Cc.3261C>G (p.Asn1087Lys)
c.3153C>G (p.Asn1051Lys)
n.3389C>G
c.342C>G (p.Asn114Lys)
n.3387C>G
14g.91305861G=CA2154901377CCDC88Cc.3261C= (p.Asn1087=)
c.3153C= (p.Asn1051=)
n.3389C=
c.342C= (p.Asn114=)
n.3387C=
14g.91305861G>TCA390623358CCDC88Cc.3261C>A (p.Asn1087Lys)
c.3153C>A (p.Asn1051Lys)
n.3389C>A
c.342C>A (p.Asn114Lys)
n.3387C>A
14g.91305862T>ACA390623360CCDC88Cc.3260A>T (p.Asn1087Ile)
c.3152A>T (p.Asn1051Ile)
n.3388A>T
c.341A>T (p.Asn114Ile)
n.3386A>T
14g.91305862T>CCA7309404CCDC88Cc.3260A>G (p.Asn1087Ser)
c.3152A>G (p.Asn1051Ser)
n.3388A>G
c.341A>G (p.Asn114Ser)
n.3386A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305862T>GCA390623362CCDC88Cc.3260A>C (p.Asn1087Thr)
c.3152A>C (p.Asn1051Thr)
n.3388A>C
c.341A>C (p.Asn114Thr)
n.3386A>C
14g.91305862T=CA2154901382CCDC88Cc.3260A= (p.Asn1087=)
c.3152A= (p.Asn1051=)
n.3388A=
c.341A= (p.Asn114=)
n.3386A=
14g.91305863T>ACA390623365CCDC88Cc.3259A>T (p.Asn1087Tyr)
c.3151A>T (p.Asn1051Tyr)
n.3387A>T
c.340A>T (p.Asn114Tyr)
n.3385A>T
14g.91305863T>CCA390623366CCDC88Cc.3259A>G (p.Asn1087Asp)
c.3151A>G (p.Asn1051Asp)
n.3387A>G
c.340A>G (p.Asn114Asp)
n.3385A>G
14g.91305863T>GCA390623369CCDC88Cc.3259A>C (p.Asn1087His)
c.3151A>C (p.Asn1051His)
n.3387A>C
c.340A>C (p.Asn114His)
n.3385A>C
14g.91305864C>ACA390623371CCDC88Cc.3258G>T (p.Gln1086His)
c.3150G>T (p.Gln1050His)
n.3386G>T
c.339G>T (p.Gln113His)
n.3384G>T
14g.91305864C>GCA390623373CCDC88Cc.3258G>C (p.Gln1086His)
c.3150G>C (p.Gln1050His)
n.3386G>C
c.339G>C (p.Gln113His)
n.3384G>C
 gnomAD v4
14g.91305864C>TCA487549123CCDC88Cc.3258G>A (p.Gln1086=)
c.3150G>A (p.Gln1050=)
n.3386G>A
c.339G>A (p.Gln113=)
n.3384G>A
14g.91305865T>ACA390623377CCDC88Cc.3257A>T (p.Gln1086Leu)
c.3149A>T (p.Gln1050Leu)
n.3385A>T
c.338A>T (p.Gln113Leu)
n.3383A>T
14g.91305865T>CCA390623379CCDC88Cc.3257A>G (p.Gln1086Arg)
c.3149A>G (p.Gln1050Arg)
n.3385A>G
c.338A>G (p.Gln113Arg)
n.3383A>G
14g.91305865T>GCA390623375CCDC88Cc.3257A>C (p.Gln1086Pro)
c.3149A>C (p.Gln1050Pro)
n.3385A>C
c.338A>C (p.Gln113Pro)
n.3383A>C
14g.91305866G>ACA390623384CCDC88Cc.3256C>T (p.Gln1086Ter)
c.3148C>T (p.Gln1050Ter)
n.3384C>T
c.337C>T (p.Gln113Ter)
n.3382C>T
14g.91305866G>CCA390623382CCDC88Cc.3256C>G (p.Gln1086Glu)
c.3148C>G (p.Gln1050Glu)
n.3384C>G
c.337C>G (p.Gln113Glu)
n.3382C>G
14g.91305866G>TCA390623385CCDC88Cc.3256C>A (p.Gln1086Lys)
c.3148C>A (p.Gln1050Lys)
n.3384C>A
c.337C>A (p.Gln113Lys)
n.3382C>A
14g.91305867G>ACA487549124CCDC88Cc.3255C>T (p.Thr1085=)
c.3147C>T (p.Thr1049=)
n.3383C>T
c.336C>T (p.Thr112=)
n.3381C>T
 ClinVar
14g.91305867G>CCA487549126CCDC88Cc.3255C>G (p.Thr1085=)
c.3147C>G (p.Thr1049=)
n.3383C>G
c.336C>G (p.Thr112=)
n.3381C>G
14g.91305867G>TCA487549127CCDC88Cc.3255C>A (p.Thr1085=)
c.3147C>A (p.Thr1049=)
n.3383C>A
c.336C>A (p.Thr112=)
n.3381C>A
 gnomAD v4
14g.91305868G>ACA390623388CCDC88Cc.3254C>T (p.Thr1085Ile)
c.3146C>T (p.Thr1049Ile)
n.3382C>T
c.335C>T (p.Thr112Ile)
n.3380C>T
14g.91305868G>CCA390623389CCDC88Cc.3254C>G (p.Thr1085Ser)
c.3146C>G (p.Thr1049Ser)
n.3382C>G
c.335C>G (p.Thr112Ser)
n.3380C>G
14g.91305868G>TCA390623391CCDC88Cc.3254C>A (p.Thr1085Asn)
c.3146C>A (p.Thr1049Asn)
n.3382C>A
c.335C>A (p.Thr112Asn)
n.3380C>A
14g.91305869T>ACA390623393CCDC88Cc.3253A>T (p.Thr1085Ser)
c.3145A>T (p.Thr1049Ser)
n.3381A>T
c.334A>T (p.Thr112Ser)
n.3379A>T
14g.91305869T>CCA390623395CCDC88Cc.3253A>G (p.Thr1085Ala)
c.3145A>G (p.Thr1049Ala)
n.3381A>G
c.334A>G (p.Thr112Ala)
n.3379A>G
 dbSNP gnomAD v3 gnomAD v4
14g.91305869T>GCA390623396CCDC88Cc.3253A>C (p.Thr1085Pro)
c.3145A>C (p.Thr1049Pro)
n.3381A>C
c.334A>C (p.Thr112Pro)
n.3379A>C
14g.91305869T=CA2154901388CCDC88Cc.3253A= (p.Thr1085=)
c.3145A= (p.Thr1049=)
n.3381A=
c.334A= (p.Thr112=)
n.3379A=
14g.91305870C>ACA390623398CCDC88Cc.3252G>T (p.Glu1084Asp)
c.3144G>T (p.Glu1048Asp)
n.3380G>T
c.333G>T (p.Glu111Asp)
n.3378G>T
14g.91305870C>GCA390623399CCDC88Cc.3252G>C (p.Glu1084Asp)
c.3144G>C (p.Glu1048Asp)
n.3380G>C
c.333G>C (p.Glu111Asp)
n.3378G>C
14g.91305870C>TCA487549129CCDC88Cc.3252G>A (p.Glu1084=)
c.3144G>A (p.Glu1048=)
n.3380G>A
c.333G>A (p.Glu111=)
n.3378G>A
14g.91305871T>ACA390623402CCDC88Cc.3251A>T (p.Glu1084Val)
c.3143A>T (p.Glu1048Val)
n.3379A>T
c.332A>T (p.Glu111Val)
n.3377A>T
14g.91305871T>CCA390623404CCDC88Cc.3251A>G (p.Glu1084Gly)
c.3143A>G (p.Glu1048Gly)
n.3379A>G
c.332A>G (p.Glu111Gly)
n.3377A>G
14g.91305871T>GCA390623406CCDC88Cc.3251A>C (p.Glu1084Ala)
c.3143A>C (p.Glu1048Ala)
n.3379A>C
c.332A>C (p.Glu111Ala)
n.3377A>C
14g.91305872C>ACA390623411CCDC88Cc.3250G>T (p.Glu1084Ter)
c.3142G>T (p.Glu1048Ter)
n.3378G>T
c.331G>T (p.Glu111Ter)
n.3376G>T
14g.91305872C>GCA390623410CCDC88Cc.3250G>C (p.Glu1084Gln)
c.3142G>C (p.Glu1048Gln)
n.3378G>C
c.331G>C (p.Glu111Gln)
n.3376G>C
14g.91305872C>TCA390623408CCDC88Cc.3250G>A (p.Glu1084Lys)
c.3142G>A (p.Glu1048Lys)
n.3378G>A
c.331G>A (p.Glu111Lys)
n.3376G>A
14g.91305873C>ACA487549134CCDC88Cc.3249G>T (p.Leu1083=)
c.3141G>T (p.Leu1047=)
n.3377G>T
c.330G>T (p.Leu110=)
n.3375G>T
14g.91305873C=CA2154901394CCDC88Cc.3249G= (p.Leu1083=)
c.3141G= (p.Leu1047=)
n.3377G=
c.330G= (p.Leu110=)
n.3375G=
14g.91305873C>GCA487549132CCDC88Cc.3249G>C (p.Leu1083=)
c.3141G>C (p.Leu1047=)
n.3377G>C
c.330G>C (p.Leu110=)
n.3375G>C
14g.91305873C>TCA7309405CCDC88Cc.3249G>A (p.Leu1083=)
c.3141G>A (p.Leu1047=)
n.3377G>A
c.330G>A (p.Leu110=)
n.3375G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305874A>CCA390623412CCDC88Cc.3248T>G (p.Leu1083Arg)
c.3140T>G (p.Leu1047Arg)
n.3376T>G
c.329T>G (p.Leu110Arg)
n.3374T>G
14g.91305874A>GCA390623413CCDC88Cc.3248T>C (p.Leu1083Pro)
c.3140T>C (p.Leu1047Pro)
n.3376T>C
c.329T>C (p.Leu110Pro)
n.3374T>C
14g.91305874A>TCA390623414CCDC88Cc.3248T>A (p.Leu1083Gln)
c.3140T>A (p.Leu1047Gln)
n.3376T>A
c.329T>A (p.Leu110Gln)
n.3374T>A
14g.91305874_91305875delCA2697554126CCDC88Cc.3247_3248del (p.Leu1083GlyfsTer?)
c.3139_3140del (p.Leu1047GlyfsTer?)
n.3375_3376del
c.328_329del (p.Leu110GlyfsTer?)
n.3373_3374del
 ClinVar
14g.91305875G>ACA487549136CCDC88Cc.3247C>T (p.Leu1083=)
c.3139C>T (p.Leu1047=)
n.3375C>T
c.328C>T (p.Leu110=)
n.3373C>T
 gnomAD v4
14g.91305875G>CCA390623415CCDC88Cc.3247C>G (p.Leu1083Val)
c.3139C>G (p.Leu1047Val)
n.3375C>G
c.328C>G (p.Leu110Val)
n.3373C>G
14g.91305875G>TCA390623416CCDC88Cc.3247C>A (p.Leu1083Met)
c.3139C>A (p.Leu1047Met)
n.3375C>A
c.328C>A (p.Leu110Met)
n.3373C>A
14g.91305876G>ACA7309406CCDC88Cc.3246C>T (p.His1082=)
c.3138C>T (p.His1046=)
n.3374C>T
c.327C>T (p.His109=)
n.3372C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305876G>CCA390623418CCDC88Cc.3246C>G (p.His1082Gln)
c.3138C>G (p.His1046Gln)
n.3374C>G
c.327C>G (p.His109Gln)
n.3372C>G
14g.91305876G=CA2154901398CCDC88Cc.3246C= (p.His1082=)
c.3138C= (p.His1046=)
n.3374C=
c.327C= (p.His109=)
n.3372C=
14g.91305876G>TCA390623420CCDC88Cc.3246C>A (p.His1082Gln)
c.3138C>A (p.His1046Gln)
n.3374C>A
c.327C>A (p.His109Gln)
n.3372C>A
14g.91305877T>ACA390623422CCDC88Cc.3245A>T (p.His1082Leu)
c.3137A>T (p.His1046Leu)
n.3373A>T
c.326A>T (p.His109Leu)
n.3371A>T
14g.91305877T>CCA390623423CCDC88Cc.3245A>G (p.His1082Arg)
c.3137A>G (p.His1046Arg)
n.3373A>G
c.326A>G (p.His109Arg)
n.3371A>G
14g.91305877T>GCA390623425CCDC88Cc.3245A>C (p.His1082Pro)
c.3137A>C (p.His1046Pro)
n.3373A>C
c.326A>C (p.His109Pro)
n.3371A>C
14g.91305878G>ACA390623429CCDC88Cc.3244C>T (p.His1082Tyr)
c.3136C>T (p.His1046Tyr)
n.3372C>T
c.325C>T (p.His109Tyr)
n.3370C>T
14g.91305878G>CCA390623430CCDC88Cc.3244C>G (p.His1082Asp)
c.3136C>G (p.His1046Asp)
n.3372C>G
c.325C>G (p.His109Asp)
n.3370C>G
14g.91305878G>TCA390623428CCDC88Cc.3244C>A (p.His1082Asn)
c.3136C>A (p.His1046Asn)
n.3372C>A
c.325C>A (p.His109Asn)
n.3370C>A
14g.91305879C>ACA390623432CCDC88Cc.3243G>T (p.Gln1081His)
c.3135G>T (p.Gln1045His)
n.3371G>T
c.324G>T (p.Gln108His)
n.3369G>T
14g.91305879C>GCA390623434CCDC88Cc.3243G>C (p.Gln1081His)
c.3135G>C (p.Gln1045His)
n.3371G>C
c.324G>C (p.Gln108His)
n.3369G>C
14g.91305879C>TCA487549140CCDC88Cc.3243G>A (p.Gln1081=)
c.3135G>A (p.Gln1045=)
n.3371G>A
c.324G>A (p.Gln108=)
n.3369G>A
14g.91305880T>ACA390623435CCDC88Cc.3242A>T (p.Gln1081Leu)
c.3134A>T (p.Gln1045Leu)
n.3370A>T
c.323A>T (p.Gln108Leu)
n.3368A>T
14g.91305880T>CCA390623437CCDC88Cc.3242A>G (p.Gln1081Arg)
c.3134A>G (p.Gln1045Arg)
n.3370A>G
c.323A>G (p.Gln108Arg)
n.3368A>G
 dbSNP gnomAD v4
14g.91305880T>GCA390623438CCDC88Cc.3242A>C (p.Gln1081Pro)
c.3134A>C (p.Gln1045Pro)
n.3370A>C
c.323A>C (p.Gln108Pro)
n.3368A>C
14g.91305880T=CA2154901403CCDC88Cc.3242A= (p.Gln1081=)
c.3134A= (p.Gln1045=)
n.3370A=
c.323A= (p.Gln108=)
n.3368A=
14g.91305881G>ACA390623440CCDC88Cc.3241C>T (p.Gln1081Ter)
c.3133C>T (p.Gln1045Ter)
n.3369C>T
c.322C>T (p.Gln108Ter)
n.3367C>T
 dbSNP gnomAD v2 gnomAD v4
14g.91305881G>CCA390623441CCDC88Cc.3241C>G (p.Gln1081Glu)
c.3133C>G (p.Gln1045Glu)
n.3369C>G
c.322C>G (p.Gln108Glu)
n.3367C>G
14g.91305881G=CA2154901409CCDC88Cc.3241C= (p.Gln1081=)
c.3133C= (p.Gln1045=)
n.3369C=
c.322C= (p.Gln108=)
n.3367C=
14g.91305881G>TCA390623444CCDC88Cc.3241C>A (p.Gln1081Lys)
c.3133C>A (p.Gln1045Lys)
n.3369C>A
c.322C>A (p.Gln108Lys)
n.3367C>A
14g.91305882C>ACA487549143CCDC88Cc.3240G>T (p.Leu1080=)
c.3132G>T (p.Leu1044=)
n.3368G>T
c.321G>T (p.Leu107=)
n.3366G>T
14g.91305882C>GCA487549145CCDC88Cc.3240G>C (p.Leu1080=)
c.3132G>C (p.Leu1044=)
n.3368G>C
c.321G>C (p.Leu107=)
n.3366G>C
 gnomAD v4
14g.91305882C>TCA487549146CCDC88Cc.3240G>A (p.Leu1080=)
c.3132G>A (p.Leu1044=)
n.3368G>A
c.321G>A (p.Leu107=)
n.3366G>A
14g.91305883A>CCA390623446CCDC88Cc.3239T>G (p.Leu1080Arg)
c.3131T>G (p.Leu1044Arg)
n.3367T>G
c.320T>G (p.Leu107Arg)
n.3365T>G
14g.91305883A>GCA390623447CCDC88Cc.3239T>C (p.Leu1080Pro)
c.3131T>C (p.Leu1044Pro)
n.3367T>C
c.320T>C (p.Leu107Pro)
n.3365T>C
14g.91305883A>TCA390623449CCDC88Cc.3239T>A (p.Leu1080Gln)
c.3131T>A (p.Leu1044Gln)
n.3367T>A
c.320T>A (p.Leu107Gln)
n.3365T>A
14g.91305884G>ACA487549147CCDC88Cc.3238C>T (p.Leu1080=)
c.3130C>T (p.Leu1044=)
n.3366C>T
c.319C>T (p.Leu107=)
n.3364C>T
 gnomAD v4 COSMIC COSMIC
14g.91305884G>CCA390623451CCDC88Cc.3238C>G (p.Leu1080Val)
c.3130C>G (p.Leu1044Val)
n.3366C>G
c.319C>G (p.Leu107Val)
n.3364C>G
14g.91305884G=CA2154901411CCDC88Cc.3238C= (p.Leu1080=)
c.3130C= (p.Leu1044=)
n.3366C=
c.319C= (p.Leu107=)
n.3364C=
14g.91305884G>TCA390623452CCDC88Cc.3238C>A (p.Leu1080Met)
c.3130C>A (p.Leu1044Met)
n.3366C>A
c.319C>A (p.Leu107Met)
n.3364C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.91305885C>ACA390623461CCDC88Cc.3237G>T (p.Gln1079His)
c.3129G>T (p.Gln1043His)
n.3365G>T
c.318G>T (p.Gln106His)
n.3363G>T
14g.91305885C=CA2154901414CCDC88Cc.3237G= (p.Gln1079=)
c.3129G= (p.Gln1043=)
n.3365G=
c.318G= (p.Gln106=)
n.3363G=
14g.91305885C>GCA390623459CCDC88Cc.3237G>C (p.Gln1079His)
c.3129G>C (p.Gln1043His)
n.3365G>C
c.318G>C (p.Gln106His)
n.3363G>C
14g.91305885C>TCA7309407CCDC88Cc.3237G>A (p.Gln1079=)
c.3129G>A (p.Gln1043=)
n.3365G>A
c.318G>A (p.Gln106=)
n.3363G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91305886T>ACA390623463CCDC88Cc.3236A>T (p.Gln1079Leu)
c.3128A>T (p.Gln1043Leu)
n.3364A>T
c.317A>T (p.Gln106Leu)
n.3362A>T
14g.91305886T>CCA390623464CCDC88Cc.3236A>G (p.Gln1079Arg)
c.3128A>G (p.Gln1043Arg)
n.3364A>G
c.317A>G (p.Gln106Arg)
n.3362A>G
14g.91305886T>GCA390623466CCDC88Cc.3236A>C (p.Gln1079Pro)
c.3128A>C (p.Gln1043Pro)
n.3364A>C
c.317A>C (p.Gln106Pro)
n.3362A>C
 dbSNP

Number of alleles fetched