Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
14g.91305887G>ACA390623468CCDC88Cc.3235C>T (p.Gln1079Ter)
c.3127C>T (p.Gln1043Ter)
n.3363C>T
c.316C>T (p.Gln106Ter)
n.3361C>T
 gnomAD v4
14g.91305887G>CCA7309408CCDC88Cc.3235C>G (p.Gln1079Glu)
c.3127C>G (p.Gln1043Glu)
n.3363C>G
c.316C>G (p.Gln106Glu)
n.3361C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91305887G=CA2154901417CCDC88Cc.3235C= (p.Gln1079=)
c.3127C= (p.Gln1043=)
n.3363C=
c.316C= (p.Gln106=)
n.3361C=
14g.91305887G>TCA390623475CCDC88Cc.3235C>A (p.Gln1079Lys)
c.3127C>A (p.Gln1043Lys)
n.3363C>A
c.316C>A (p.Gln106Lys)
n.3361C>A
 gnomAD v4
14g.91305888T>ACA390623477CCDC88Cc.3234A>T (p.Glu1078Asp)
c.3126A>T (p.Glu1042Asp)
n.3362A>T
c.315A>T (p.Glu105Asp)
n.3360A>T
14g.91305888T>CCA487549149CCDC88Cc.3234A>G (p.Glu1078=)
c.3126A>G (p.Glu1042=)
n.3362A>G
c.315A>G (p.Glu105=)
n.3360A>G
14g.91305888T>GCA390623479CCDC88Cc.3234A>C (p.Glu1078Asp)
c.3126A>C (p.Glu1042Asp)
n.3362A>C
c.315A>C (p.Glu105Asp)
n.3360A>C
14g.91305889T>ACA390623487CCDC88Cc.3233A>T (p.Glu1078Val)
c.3125A>T (p.Glu1042Val)
n.3361A>T
c.314A>T (p.Glu105Val)
n.3359A>T
14g.91305889T>CCA390623489CCDC88Cc.3233A>G (p.Glu1078Gly)
c.3125A>G (p.Glu1042Gly)
n.3361A>G
c.314A>G (p.Glu105Gly)
n.3359A>G
14g.91305889T>GCA390623492CCDC88Cc.3233A>C (p.Glu1078Ala)
c.3125A>C (p.Glu1042Ala)
n.3361A>C
c.314A>C (p.Glu105Ala)
n.3359A>C
14g.91305890C>ACA390623496CCDC88Cc.3232G>T (p.Glu1078Ter)
c.3124G>T (p.Glu1042Ter)
n.3360G>T
c.313G>T (p.Glu105Ter)
n.3358G>T
 gnomAD v4
14g.91305890C>GCA390623497CCDC88Cc.3232G>C (p.Glu1078Gln)
c.3124G>C (p.Glu1042Gln)
n.3360G>C
c.313G>C (p.Glu105Gln)
n.3358G>C
14g.91305890C>TCA390623499CCDC88Cc.3232G>A (p.Glu1078Lys)
c.3124G>A (p.Glu1042Lys)
n.3360G>A
c.313G>A (p.Glu105Lys)
n.3358G>A
14g.91305891C>ACA390623506CCDC88Cc.3231G>T (p.Lys1077Asn)
c.3123G>T (p.Lys1041Asn)
n.3359G>T
c.312G>T (p.Lys104Asn)
n.3357G>T
14g.91305891C>GCA390623503CCDC88Cc.3231G>C (p.Lys1077Asn)
c.3123G>C (p.Lys1041Asn)
n.3359G>C
c.312G>C (p.Lys104Asn)
n.3357G>C
14g.91305891C>TCA487549151CCDC88Cc.3231G>A (p.Lys1077=)
c.3123G>A (p.Lys1041=)
n.3359G>A
c.312G>A (p.Lys104=)
n.3357G>A
 COSMIC COSMIC
14g.91305892T>ACA390623509CCDC88Cc.3230A>T (p.Lys1077Met)
c.3122A>T (p.Lys1041Met)
n.3358A>T
c.311A>T (p.Lys104Met)
n.3356A>T
14g.91305892T>CCA390623515CCDC88Cc.3230A>G (p.Lys1077Arg)
c.3122A>G (p.Lys1041Arg)
n.3358A>G
c.311A>G (p.Lys104Arg)
n.3356A>G
14g.91305892T>GCA390623513CCDC88Cc.3230A>C (p.Lys1077Thr)
c.3122A>C (p.Lys1041Thr)
n.3358A>C
c.311A>C (p.Lys104Thr)
n.3356A>C
14g.91305893T>ACA390623519CCDC88Cc.3229A>T (p.Lys1077Ter)
c.3121A>T (p.Lys1041Ter)
n.3357A>T
c.310A>T (p.Lys104Ter)
n.3355A>T
14g.91305893T>CCA390623520CCDC88Cc.3229A>G (p.Lys1077Glu)
c.3121A>G (p.Lys1041Glu)
n.3357A>G
c.310A>G (p.Lys104Glu)
n.3355A>G
14g.91305893T>GCA390623559CCDC88Cc.3229A>C (p.Lys1077Gln)
c.3121A>C (p.Lys1041Gln)
n.3357A>C
c.310A>C (p.Lys104Gln)
n.3355A>C
14g.91305894T>ACA487549155CCDC88Cc.3228A>T (p.Leu1076=)
c.3120A>T (p.Leu1040=)
n.3356A>T
c.309A>T (p.Leu103=)
n.3354A>T
14g.91305894T>CCA487549156CCDC88Cc.3228A>G (p.Leu1076=)
c.3120A>G (p.Leu1040=)
n.3356A>G
c.309A>G (p.Leu103=)
n.3354A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.91305894T>GCA487549157CCDC88Cc.3228A>C (p.Leu1076=)
c.3120A>C (p.Leu1040=)
n.3356A>C
c.309A>C (p.Leu103=)
n.3354A>C
14g.91305894T=CA2154901422CCDC88Cc.3228A= (p.Leu1076=)
c.3120A= (p.Leu1040=)
n.3356A=
c.309A= (p.Leu103=)
n.3354A=
14g.91305895A>CCA390623562CCDC88Cc.3227T>G (p.Leu1076Arg)
c.3119T>G (p.Leu1040Arg)
n.3355T>G
c.308T>G (p.Leu103Arg)
n.3353T>G
14g.91305895A>GCA390623564CCDC88Cc.3227T>C (p.Leu1076Pro)
c.3119T>C (p.Leu1040Pro)
n.3355T>C
c.308T>C (p.Leu103Pro)
n.3353T>C
14g.91305895A>TCA390623566CCDC88Cc.3227T>A (p.Leu1076Gln)
c.3119T>A (p.Leu1040Gln)
n.3355T>A
c.308T>A (p.Leu103Gln)
n.3353T>A
14g.91305895dupCA2626131763CCDC88Cc.3227dup (p.Glu1078GlyfsTer?)
c.3119dup (p.Glu1042GlyfsTer?)
n.3355dup
c.308dup (p.Glu105GlyfsTer?)
n.3353dup
 gnomAD v4
14g.91305896G>ACA7309409CCDC88Cc.3226C>T (p.Leu1076=)
c.3118C>T (p.Leu1040=)
n.3354C>T
c.307C>T (p.Leu103=)
n.3352C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.91305896G>CCA390623571CCDC88Cc.3226C>G (p.Leu1076Val)
c.3118C>G (p.Leu1040Val)
n.3354C>G
c.307C>G (p.Leu103Val)
n.3352C>G
 gnomAD v4
14g.91305896G=CA2154901427CCDC88Cc.3226C= (p.Leu1076=)
c.3118C= (p.Leu1040=)
n.3354C=
c.307C= (p.Leu103=)
n.3352C=
14g.91305896G>TCA390623580CCDC88Cc.3226C>A (p.Leu1076Ile)
c.3118C>A (p.Leu1040Ile)
n.3354C>A
c.307C>A (p.Leu103Ile)
n.3352C>A
14g.91305897C>ACA487549160CCDC88Cc.3225G>T (p.Leu1075=)
c.3117G>T (p.Leu1039=)
n.3353G>T
c.306G>T (p.Leu102=)
n.3351G>T
14g.91305897C>GCA487549162CCDC88Cc.3225G>C (p.Leu1075=)
c.3117G>C (p.Leu1039=)
n.3353G>C
c.306G>C (p.Leu102=)
n.3351G>C
 COSMIC COSMIC
14g.91305897C>TCA487549161CCDC88Cc.3225G>A (p.Leu1075=)
c.3117G>A (p.Leu1039=)
n.3353G>A
c.306G>A (p.Leu102=)
n.3351G>A
 gnomAD v4
14g.91305898A>CCA390623584CCDC88Cc.3224T>G (p.Leu1075Arg)
c.3116T>G (p.Leu1039Arg)
n.3352T>G
c.305T>G (p.Leu102Arg)
n.3350T>G
14g.91305898A>GCA390623587CCDC88Cc.3224T>C (p.Leu1075Pro)
c.3116T>C (p.Leu1039Pro)
n.3352T>C
c.305T>C (p.Leu102Pro)
n.3350T>C
14g.91305898A>TCA390623588CCDC88Cc.3224T>A (p.Leu1075Gln)
c.3116T>A (p.Leu1039Gln)
n.3352T>A
c.305T>A (p.Leu102Gln)
n.3350T>A
14g.91305899G>ACA487549163CCDC88Cc.3223C>T (p.Leu1075=)
c.3115C>T (p.Leu1039=)
n.3351C>T
c.304C>T (p.Leu102=)
n.3349C>T
14g.91305899G>CCA390623590CCDC88Cc.3223C>G (p.Leu1075Val)
c.3115C>G (p.Leu1039Val)
n.3351C>G
c.304C>G (p.Leu102Val)
n.3349C>G
14g.91305899G>TCA390623589CCDC88Cc.3223C>A (p.Leu1075Met)
c.3115C>A (p.Leu1039Met)
n.3351C>A
c.304C>A (p.Leu102Met)
n.3349C>A
14g.91305900C>ACA390623592CCDC88Cc.3222G>T (p.Gln1074His)
c.3114G>T (p.Gln1038His)
n.3350G>T
c.303G>T (p.Gln101His)
n.3348G>T
14g.91305900C>GCA390623594CCDC88Cc.3222G>C (p.Gln1074His)
c.3114G>C (p.Gln1038His)
n.3350G>C
c.303G>C (p.Gln101His)
n.3348G>C
 gnomAD v4
14g.91305900C>TCA487549165CCDC88Cc.3222G>A (p.Gln1074=)
c.3114G>A (p.Gln1038=)
n.3350G>A
c.303G>A (p.Gln101=)
n.3348G>A
14g.91305901T>ACA390623598CCDC88Cc.3221A>T (p.Gln1074Leu)
c.3113A>T (p.Gln1038Leu)
n.3349A>T
c.302A>T (p.Gln101Leu)
n.3347A>T
14g.91305901T>CCA390623600CCDC88Cc.3221A>G (p.Gln1074Arg)
c.3113A>G (p.Gln1038Arg)
n.3349A>G
c.302A>G (p.Gln101Arg)
n.3347A>G
14g.91305901T>GCA390623603CCDC88Cc.3221A>C (p.Gln1074Pro)
c.3113A>C (p.Gln1038Pro)
n.3349A>C
c.302A>C (p.Gln101Pro)
n.3347A>C
14g.91305902G>ACA390623612CCDC88Cc.3220C>T (p.Gln1074Ter)
c.3112C>T (p.Gln1038Ter)
n.3348C>T
c.301C>T (p.Gln101Ter)
n.3346C>T
14g.91305902G>CCA390623609CCDC88Cc.3220C>G (p.Gln1074Glu)
c.3112C>G (p.Gln1038Glu)
n.3348C>G
c.301C>G (p.Gln101Glu)
n.3346C>G
14g.91305902G>TCA390623606CCDC88Cc.3220C>A (p.Gln1074Lys)
c.3112C>A (p.Gln1038Lys)
n.3348C>A
c.301C>A (p.Gln101Lys)
n.3346C>A
14g.91305903C>ACA390623615CCDC88Cc.3219G>T (p.Lys1073Asn)
c.3111G>T (p.Lys1037Asn)
n.3347G>T
c.300G>T (p.Lys100Asn)
n.3345G>T
14g.91305903C=CA2154901431CCDC88Cc.3219G= (p.Lys1073=)
c.3111G= (p.Lys1037=)
n.3347G=
c.300G= (p.Lys100=)
n.3345G=
14g.91305903C>GCA390623619CCDC88Cc.3219G>C (p.Lys1073Asn)
c.3111G>C (p.Lys1037Asn)
n.3347G>C
c.300G>C (p.Lys100Asn)
n.3345G>C
14g.91305903C>TCA7309410CCDC88Cc.3219G>A (p.Lys1073=)
c.3111G>A (p.Lys1037=)
n.3347G>A
c.300G>A (p.Lys100=)
n.3345G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91305904T>ACA390623624CCDC88Cc.3218A>T (p.Lys1073Met)
c.3110A>T (p.Lys1037Met)
n.3346A>T
c.299A>T (p.Lys100Met)
n.3344A>T
14g.91305904T>CCA390623626CCDC88Cc.3218A>G (p.Lys1073Arg)
c.3110A>G (p.Lys1037Arg)
n.3346A>G
c.299A>G (p.Lys100Arg)
n.3344A>G
14g.91305904T>GCA390623627CCDC88Cc.3218A>C (p.Lys1073Thr)
c.3110A>C (p.Lys1037Thr)
n.3346A>C
c.299A>C (p.Lys100Thr)
n.3344A>C
14g.91305905T>ACA390623631CCDC88Cc.3217A>T (p.Lys1073Ter)
c.3109A>T (p.Lys1037Ter)
n.3345A>T
c.298A>T (p.Lys100Ter)
n.3343A>T
14g.91305905T>CCA390623634CCDC88Cc.3217A>G (p.Lys1073Glu)
c.3109A>G (p.Lys1037Glu)
n.3345A>G
c.298A>G (p.Lys100Glu)
n.3343A>G
14g.91305905T>GCA390623633CCDC88Cc.3217A>C (p.Lys1073Gln)
c.3109A>C (p.Lys1037Gln)
n.3345A>C
c.298A>C (p.Lys100Gln)
n.3343A>C
14g.91305906C>ACA390623636CCDC88Cc.3216G>T (p.Glu1072Asp)
c.3108G>T (p.Glu1036Asp)
n.3344G>T
c.297G>T (p.Glu99Asp)
n.3342G>T
14g.91305906C>GCA390623638CCDC88Cc.3216G>C (p.Glu1072Asp)
c.3108G>C (p.Glu1036Asp)
n.3344G>C
c.297G>C (p.Glu99Asp)
n.3342G>C
14g.91305906C>TCA487549168CCDC88Cc.3216G>A (p.Glu1072=)
c.3108G>A (p.Glu1036=)
n.3344G>A
c.297G>A (p.Glu99=)
n.3342G>A
14g.91305907T>ACA390623640CCDC88Cc.3215A>T (p.Glu1072Val)
c.3107A>T (p.Glu1036Val)
n.3343A>T
c.296A>T (p.Glu99Val)
n.3341A>T
14g.91305907T>CCA390623642CCDC88Cc.3215A>G (p.Glu1072Gly)
c.3107A>G (p.Glu1036Gly)
n.3343A>G
c.296A>G (p.Glu99Gly)
n.3341A>G
14g.91305907T>GCA390623643CCDC88Cc.3215A>C (p.Glu1072Ala)
c.3107A>C (p.Glu1036Ala)
n.3343A>C
c.296A>C (p.Glu99Ala)
n.3341A>C
14g.91305908C>ACA390623646CCDC88Cc.3214G>T (p.Glu1072Ter)
c.3106G>T (p.Glu1036Ter)
n.3342G>T
c.295G>T (p.Glu99Ter)
n.3340G>T
14g.91305908C=CA2154901437CCDC88Cc.3214G= (p.Glu1072=)
c.3106G= (p.Glu1036=)
n.3342G=
c.295G= (p.Glu99=)
n.3340G=
14g.91305908C>GCA390623647CCDC88Cc.3214G>C (p.Glu1072Gln)
c.3106G>C (p.Glu1036Gln)
n.3342G>C
c.295G>C (p.Glu99Gln)
n.3340G>C
14g.91305908C>TCA390623649CCDC88Cc.3214G>A (p.Glu1072Lys)
c.3106G>A (p.Glu1036Lys)
n.3342G>A
c.295G>A (p.Glu99Lys)
n.3340G>A
 dbSNP gnomAD v2 gnomAD v4
14g.91305909A>CCA487549170CCDC88Cc.3213T>G (p.Ala1071=)
c.3105T>G (p.Ala1035=)
n.3341T>G
c.294T>G (p.Ala98=)
n.3339T>G
14g.91305909A>GCA487549172CCDC88Cc.3213T>C (p.Ala1071=)
c.3105T>C (p.Ala1035=)
n.3341T>C
c.294T>C (p.Ala98=)
n.3339T>C
14g.91305909A>TCA487549173CCDC88Cc.3213T>A (p.Ala1071=)
c.3105T>A (p.Ala1035=)
n.3341T>A
c.294T>A (p.Ala98=)
n.3339T>A
14g.91305910G>ACA390623652CCDC88Cc.3212C>T (p.Ala1071Val)
c.3104C>T (p.Ala1035Val)
n.3340C>T
c.293C>T (p.Ala98Val)
n.3338C>T
14g.91305910G>CCA390623653CCDC88Cc.3212C>G (p.Ala1071Gly)
c.3104C>G (p.Ala1035Gly)
n.3340C>G
c.293C>G (p.Ala98Gly)
n.3338C>G
14g.91305910G>TCA390623655CCDC88Cc.3212C>A (p.Ala1071Asp)
c.3104C>A (p.Ala1035Asp)
n.3340C>A
c.293C>A (p.Ala98Asp)
n.3338C>A
 gnomAD v4
14g.91305911C>ACA390623657CCDC88Cc.3211G>T (p.Ala1071Ser)
c.3103G>T (p.Ala1035Ser)
n.3339G>T
c.292G>T (p.Ala98Ser)
n.3337G>T
14g.91305911C>GCA390623659CCDC88Cc.3211G>C (p.Ala1071Pro)
c.3103G>C (p.Ala1035Pro)
n.3339G>C
c.292G>C (p.Ala98Pro)
n.3337G>C
14g.91305911C>TCA390623660CCDC88Cc.3211G>A (p.Ala1071Thr)
c.3103G>A (p.Ala1035Thr)
n.3339G>A
c.292G>A (p.Ala98Thr)
n.3337G>A
14g.91305912C>ACA390623664CCDC88Cc.3210G>T (p.Gln1070His)
c.3102G>T (p.Gln1034His)
n.3338G>T
c.291G>T (p.Gln97His)
n.3336G>T
14g.91305912C>GCA390623666CCDC88Cc.3210G>C (p.Gln1070His)
c.3102G>C (p.Gln1034His)
n.3338G>C
c.291G>C (p.Gln97His)
n.3336G>C
 gnomAD v4
14g.91305912C>TCA487549177CCDC88Cc.3210G>A (p.Gln1070=)
c.3102G>A (p.Gln1034=)
n.3338G>A
c.291G>A (p.Gln97=)
n.3336G>A
 ClinVar
14g.91305912_91305921delinsCTGCAGAGCTCA2154901439CCDC88Cc.3201_3210delinsAGCTCTGCAG (p.Ala1067=)
c.3093_3102delinsAGCTCTGCAG (p.Ala1031=)
n.3329_3338delinsAGCTCTGCAG
c.282_291delinsAGCTCTGCAG (p.Ala94=)
n.3327_3336delinsAGCTCTGCAG
14g.91305913T>ACA390623668CCDC88Cc.3209A>T (p.Gln1070Leu)
c.3101A>T (p.Gln1034Leu)
n.3337A>T
c.290A>T (p.Gln97Leu)
n.3335A>T
14g.91305913T>CCA390623670CCDC88Cc.3209A>G (p.Gln1070Arg)
c.3101A>G (p.Gln1034Arg)
n.3337A>G
c.290A>G (p.Gln97Arg)
n.3335A>G
14g.91305913T>GCA390623674CCDC88Cc.3209A>C (p.Gln1070Pro)
c.3101A>C (p.Gln1034Pro)
n.3337A>C
c.290A>C (p.Gln97Pro)
n.3335A>C
14g.91305913_91305921delCA7309411CCDC88Cc.3201_3209del (p.Ala1068_Gln1070del)
c.3093_3101del (p.Ala1032_Gln1034del)
n.3329_3337del
c.282_290del (p.Ala95_Gln97del)
n.3327_3335del
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91305914G>ACA390623681CCDC88Cc.3208C>T (p.Gln1070Ter)
c.3100C>T (p.Gln1034Ter)
n.3336C>T
c.289C>T (p.Gln97Ter)
n.3334C>T
 dbSNP
14g.91305914G>CCA390623683CCDC88Cc.3208C>G (p.Gln1070Glu)
c.3100C>G (p.Gln1034Glu)
n.3336C>G
c.289C>G (p.Gln97Glu)
n.3334C>G
14g.91305914G=CA2154901443CCDC88Cc.3208C= (p.Gln1070=)
c.3100C= (p.Gln1034=)
n.3336C=
c.289C= (p.Gln97=)
n.3334C=
14g.91305914G>TCA390623686CCDC88Cc.3208C>A (p.Gln1070Lys)
c.3100C>A (p.Gln1034Lys)
n.3336C>A
c.289C>A (p.Gln97Lys)
n.3334C>A
14g.91305915C>ACA487549181CCDC88Cc.3207G>T (p.Leu1069=)
c.3099G>T (p.Leu1033=)
n.3335G>T
c.288G>T (p.Leu96=)
n.3333G>T
14g.91305915C=CA2154901446CCDC88Cc.3207G= (p.Leu1069=)
c.3099G= (p.Leu1033=)
n.3335G=
c.288G= (p.Leu96=)
n.3333G=
14g.91305915C>GCA487549182CCDC88Cc.3207G>C (p.Leu1069=)
c.3099G>C (p.Leu1033=)
n.3335G>C
c.288G>C (p.Leu96=)
n.3333G>C
14g.91305915C>TCA487549183CCDC88Cc.3207G>A (p.Leu1069=)
c.3099G>A (p.Leu1033=)
n.3335G>A
c.288G>A (p.Leu96=)
n.3333G>A
 dbSNP
14g.91305916A>CCA390623690CCDC88Cc.3206T>G (p.Leu1069Arg)
c.3098T>G (p.Leu1033Arg)
n.3334T>G
c.287T>G (p.Leu96Arg)
n.3332T>G
 gnomAD v4
14g.91305916A>GCA390623693CCDC88Cc.3206T>C (p.Leu1069Pro)
c.3098T>C (p.Leu1033Pro)
n.3334T>C
c.287T>C (p.Leu96Pro)
n.3332T>C
14g.91305916A>TCA390623696CCDC88Cc.3206T>A (p.Leu1069Gln)
c.3098T>A (p.Leu1033Gln)
n.3334T>A
c.287T>A (p.Leu96Gln)
n.3332T>A
14g.91305917G>ACA487549187CCDC88Cc.3205C>T (p.Leu1069=)
c.3097C>T (p.Leu1033=)
n.3333C>T
c.286C>T (p.Leu96=)
n.3331C>T
 ClinVar
14g.91305917G>CCA390623698CCDC88Cc.3205C>G (p.Leu1069Val)
c.3097C>G (p.Leu1033Val)
n.3333C>G
c.286C>G (p.Leu96Val)
n.3331C>G
14g.91305917G>TCA390623699CCDC88Cc.3205C>A (p.Leu1069Met)
c.3097C>A (p.Leu1033Met)
n.3333C>A
c.286C>A (p.Leu96Met)
n.3331C>A
 gnomAD v4
14g.91305918A>CCA487549188CCDC88Cc.3204T>G (p.Ala1068=)
c.3096T>G (p.Ala1032=)
n.3332T>G
c.285T>G (p.Ala95=)
n.3330T>G
14g.91305918A>GCA487549189CCDC88Cc.3204T>C (p.Ala1068=)
c.3096T>C (p.Ala1032=)
n.3332T>C
c.285T>C (p.Ala95=)
n.3330T>C
 gnomAD v4
14g.91305918A>TCA487549191CCDC88Cc.3204T>A (p.Ala1068=)
c.3096T>A (p.Ala1032=)
n.3332T>A
c.285T>A (p.Ala95=)
n.3330T>A
14g.91305919G>ACA7309412CCDC88Cc.3203C>T (p.Ala1068Val)
c.3095C>T (p.Ala1032Val)
n.3331C>T
c.284C>T (p.Ala95Val)
n.3329C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305919G>CCA390623704CCDC88Cc.3203C>G (p.Ala1068Gly)
c.3095C>G (p.Ala1032Gly)
n.3331C>G
c.284C>G (p.Ala95Gly)
n.3329C>G
14g.91305919G=CA2154901447CCDC88Cc.3203C= (p.Ala1068=)
c.3095C= (p.Ala1032=)
n.3331C=
c.284C= (p.Ala95=)
n.3329C=
14g.91305919G>TCA390623708CCDC88Cc.3203C>A (p.Ala1068Asp)
c.3095C>A (p.Ala1032Asp)
n.3331C>A
c.284C>A (p.Ala95Asp)
n.3329C>A
14g.91305920C>ACA7309413CCDC88Cc.3202G>T (p.Ala1068Ser)
c.3094G>T (p.Ala1032Ser)
n.3330G>T
c.283G>T (p.Ala95Ser)
n.3328G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305920C=CA2154901452CCDC88Cc.3202G= (p.Ala1068=)
c.3094G= (p.Ala1032=)
n.3330G=
c.283G= (p.Ala95=)
n.3328G=
14g.91305920C>GCA390623720CCDC88Cc.3202G>C (p.Ala1068Pro)
c.3094G>C (p.Ala1032Pro)
n.3330G>C
c.283G>C (p.Ala95Pro)
n.3328G>C
 gnomAD v4
14g.91305920C>TCA390623716CCDC88Cc.3202G>A (p.Ala1068Thr)
c.3094G>A (p.Ala1032Thr)
n.3330G>A
c.283G>A (p.Ala95Thr)
n.3328G>A
 dbSNP
14g.91305921T>ACA487549195CCDC88Cc.3201A>T (p.Ala1067=)
c.3093A>T (p.Ala1031=)
n.3329A>T
c.282A>T (p.Ala94=)
n.3327A>T
14g.91305921T>CCA487549196CCDC88Cc.3201A>G (p.Ala1067=)
c.3093A>G (p.Ala1031=)
n.3329A>G
c.282A>G (p.Ala94=)
n.3327A>G
14g.91305921T>GCA487549197CCDC88Cc.3201A>C (p.Ala1067=)
c.3093A>C (p.Ala1031=)
n.3329A>C
c.282A>C (p.Ala94=)
n.3327A>C
14g.91305921T=CA2154901456CCDC88Cc.3201A= (p.Ala1067=)
c.3093A= (p.Ala1031=)
n.3329A=
c.282A= (p.Ala94=)
n.3327A=
14g.91305922G>ACA390623725CCDC88Cc.3200C>T (p.Ala1067Val)
c.3092C>T (p.Ala1031Val)
n.3328C>T
c.281C>T (p.Ala94Val)
n.3326C>T
14g.91305922G>CCA390623728CCDC88Cc.3200C>G (p.Ala1067Gly)
c.3092C>G (p.Ala1031Gly)
n.3328C>G
c.281C>G (p.Ala94Gly)
n.3326C>G
14g.91305922G>TCA390623731CCDC88Cc.3200C>A (p.Ala1067Glu)
c.3092C>A (p.Ala1031Glu)
n.3328C>A
c.281C>A (p.Ala94Glu)
n.3326C>A
14g.91305923_91305930dupCA7309414CCDC88Cc.3196-3_3200dup
c.3088-3_3092dup
n.3324-3_3328dup
c.277-3_281dup
n.3322-3_3326dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305923C>ACA390623735CCDC88Cc.3199G>T (p.Ala1067Ser)
c.3091G>T (p.Ala1031Ser)
n.3327G>T
c.280G>T (p.Ala94Ser)
n.3325G>T
14g.91305923C>GCA390623738CCDC88Cc.3199G>C (p.Ala1067Pro)
c.3091G>C (p.Ala1031Pro)
n.3327G>C
c.280G>C (p.Ala94Pro)
n.3325G>C
14g.91305923C>TCA390623741CCDC88Cc.3199G>A (p.Ala1067Thr)
c.3091G>A (p.Ala1031Thr)
n.3327G>A
c.280G>A (p.Ala94Thr)
n.3325G>A
14g.91305924A>CCA390623744CCDC88Cc.3198T>G (p.Asn1066Lys)
c.3090T>G (p.Asn1030Lys)
n.3326T>G
c.279T>G (p.Asn93Lys)
n.3324T>G
14g.91305924A>GCA487549201CCDC88Cc.3198T>C (p.Asn1066=)
c.3090T>C (p.Asn1030=)
n.3326T>C
c.279T>C (p.Asn93=)
n.3324T>C
 gnomAD v4
14g.91305924A>TCA390623747CCDC88Cc.3198T>A (p.Asn1066Lys)
c.3090T>A (p.Asn1030Lys)
n.3326T>A
c.279T>A (p.Asn93Lys)
n.3324T>A
14g.91305925T>ACA390623749CCDC88Cc.3197A>T (p.Asn1066Ile)
c.3089A>T (p.Asn1030Ile)
n.3325A>T
c.278A>T (p.Asn93Ile)
n.3323A>T
14g.91305925T>CCA390623752CCDC88Cc.3197A>G (p.Asn1066Ser)
c.3089A>G (p.Asn1030Ser)
n.3325A>G
c.278A>G (p.Asn93Ser)
n.3323A>G
14g.91305925T>GCA390623755CCDC88Cc.3197A>C (p.Asn1066Thr)
c.3089A>C (p.Asn1030Thr)
n.3325A>C
c.278A>C (p.Asn93Thr)
n.3323A>C
14g.91305926T>ACA390623763CCDC88Cc.3196A>T (p.Asn1066Tyr)
c.3088A>T (p.Asn1030Tyr)
n.3324A>T
c.277A>T (p.Asn93Tyr)
n.3322A>T
14g.91305926T>CCA390623759CCDC88Cc.3196A>G (p.Asn1066Asp)
c.3088A>G (p.Asn1030Asp)
n.3324A>G
c.277A>G (p.Asn93Asp)
n.3322A>G
 gnomAD v4
14g.91305926T>GCA390623760CCDC88Cc.3196A>C (p.Asn1066His)
c.3088A>C (p.Asn1030His)
n.3324A>C
c.277A>C (p.Asn93His)
n.3322A>C
 gnomAD v4
14g.91305927C>ACA390623766CCDC88Cc.3196-1G>T (n.3196-1G>T)
c.3088-1G>T (n.3088-1G>T)
n.3324-1G>T
c.277-1G>T (n.277-1G>T)
n.3322-1G>T
14g.91305927C>GCA390623769CCDC88Cc.3196-1G>C (n.3196-1G>C)
c.3088-1G>C (n.3088-1G>C)
n.3324-1G>C
c.277-1G>C (n.277-1G>C)
n.3322-1G>C
14g.91305927C>TCA390623770CCDC88Cc.3196-1G>A (n.3196-1G>A)
c.3088-1G>A (n.3088-1G>A)
n.3324-1G>A
c.277-1G>A (n.277-1G>A)
n.3322-1G>A
 ClinVar
14g.91305928T>ACA390623773CCDC88Cc.3196-2A>T (n.3196-2A>T)
c.3088-2A>T (n.3088-2A>T)
n.3324-2A>T
c.277-2A>T (n.277-2A>T)
n.3322-2A>T
14g.91305928T>CCA390623776CCDC88Cc.3196-2A>G (n.3196-2A>G)
c.3088-2A>G (n.3088-2A>G)
n.3324-2A>G
c.277-2A>G (n.277-2A>G)
n.3322-2A>G
14g.91305928T>GCA390623778CCDC88Cc.3196-2A>C (n.3196-2A>C)
c.3088-2A>C (n.3088-2A>C)
n.3324-2A>C
c.277-2A>C (n.277-2A>C)
n.3322-2A>C
14g.91305928_91305931delinsTAGACA2154901462CCDC88Cc.3196-5_3196-2delinsTCTA (n.3196-5_3196-2delinsTCTA)
c.3088-5_3088-2delinsTCTA (n.3088-5_3088-2delinsTCTA)
n.3324-5_3324-2delinsTCTA
c.277-5_277-2delinsTCTA (n.277-5_277-2delinsTCTA)
n.3322-5_3322-2delinsTCTA
14g.91305929A=CA2154901468CCDC88Cc.3196-3T= (n.3196-3T=)
c.3088-3T= (n.3088-3T=)
n.3324-3T=
c.277-3T= (n.277-3T=)
n.3322-3T=
14g.91305929A>GCA616112396CCDC88Cc.3196-3T>C (n.3196-3T>C)
c.3088-3T>C (n.3088-3T>C)
n.3324-3T>C
c.277-3T>C (n.277-3T>C)
n.3322-3T>C
 dbSNP gnomAD v2 gnomAD v4
14g.91305929A>TCA616112397CCDC88Cc.3196-3T>A (n.3196-3T>A)
c.3088-3T>A (n.3088-3T>A)
n.3324-3T>A
c.277-3T>A (n.277-3T>A)
n.3322-3T>A
 dbSNP gnomAD v2 gnomAD v4
14g.91305932_91305934delCA709877686CCDC88Cc.3196-5_3196-3del (n.3196-5_3196-3del)
c.3088-5_3088-3del (n.3088-5_3088-3del)
n.3324-5_3324-3del
c.277-5_277-3del (n.277-5_277-3del)
n.3322-5_3322-3del
 ClinVar dbSNP gnomAD v4
14g.91305931A=CA2154901471CCDC88Cc.3196-5T= (n.3196-5T=)
c.3088-5T= (n.3088-5T=)
n.3324-5T=
c.277-5T= (n.277-5T=)
n.3322-5T=
14g.91305931A>CCA616112398CCDC88Cc.3196-5T>G (n.3196-5T>G)
c.3088-5T>G (n.3088-5T>G)
n.3324-5T>G
c.277-5T>G (n.277-5T>G)
n.3322-5T>G
 dbSNP gnomAD v2 gnomAD v4
14g.91305934_91305941delCA2739279956CCDC88Cc.3196-13_3196-6del (n.3196-13_3196-6del)
c.3088-13_3088-6del (n.3088-13_3088-6del)
n.3324-13_3324-6del
c.277-13_277-6del (n.277-13_277-6del)
n.3322-13_3322-6del
 ClinVar
14g.91305933G>CCA2626131873CCDC88Cc.3196-7C>G (n.3196-7C>G)
c.3088-7C>G (n.3088-7C>G)
n.3324-7C>G
c.277-7C>G (n.277-7C>G)
n.3322-7C>G
 gnomAD v4
14g.91305935T>ACA2626131874CCDC88Cc.3196-9A>T (n.3196-9A>T)
c.3088-9A>T (n.3088-9A>T)
n.3324-9A>T
c.277-9A>T (n.277-9A>T)
n.3322-9A>T
 gnomAD v4
14g.91305936C>ACA616112399CCDC88Cc.3196-10G>T (n.3196-10G>T)
c.3088-10G>T (n.3088-10G>T)
n.3324-10G>T
c.277-10G>T (n.277-10G>T)
n.3322-10G>T
 dbSNP gnomAD v2 gnomAD v4
14g.91305936C=CA2154901474CCDC88Cc.3196-10G= (n.3196-10G=)
c.3088-10G= (n.3088-10G=)
n.3324-10G=
c.277-10G= (n.277-10G=)
n.3322-10G=
14g.91305936C>GCA2626131879CCDC88Cc.3196-10G>C (n.3196-10G>C)
c.3088-10G>C (n.3088-10G>C)
n.3324-10G>C
c.277-10G>C (n.277-10G>C)
n.3322-10G>C
 gnomAD v4
14g.91305936C>TCA7309415CCDC88Cc.3196-10G>A (n.3196-10G>A)
c.3088-10G>A (n.3088-10G>A)
n.3324-10G>A
c.277-10G>A (n.277-10G>A)
n.3322-10G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.91305937G>ACA7309416CCDC88Cc.3196-11C>T (n.3196-11C>T)
c.3088-11C>T (n.3088-11C>T)
n.3324-11C>T
c.277-11C>T (n.277-11C>T)
n.3322-11C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305937G=CA2154901479CCDC88Cc.3196-11C= (n.3196-11C=)
c.3088-11C= (n.3088-11C=)
n.3324-11C=
c.277-11C= (n.277-11C=)
n.3322-11C=

Number of alleles fetched