Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.132898819C>ACA4883689TGc.3239C>A (p.Ser1080Tyr)
n.153C>A
c.139C>A
c.198C>A
c.2978C>A (p.Ser993Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132898819C=CA1820995848TGc.3239C= (p.Ser1080=)
n.153C=
c.139C=
c.198C=
c.2978C= (p.Ser993=)
8g.132898819C>GCA372241035TGc.3239C>G (p.Ser1080Cys)
n.153C>G
c.139C>G
c.198C>G
c.2978C>G (p.Ser993Cys)
8g.132898819C>TCA372241040TGc.3239C>T (p.Ser1080Phe)
n.153C>T
c.139C>T
c.198C>T
c.2978C>T (p.Ser993Phe)
8g.132898820T>ACA463009513TGc.3240T>A (p.Ser1080=)
n.154T>A
c.140T>A
c.199T>A
c.2979T>A (p.Ser993=)
 gnomAD v4
8g.132898820T>CCA463009514TGc.3240T>C (p.Ser1080=)
n.154T>C
c.140T>C
c.199T>C
c.2979T>C (p.Ser993=)
 ClinVar
8g.132898820T>GCA463009515TGc.3240T>G (p.Ser1080=)
n.154T>G
c.140T>G
c.199T>G
c.2979T>G (p.Ser993=)
8g.132898820_132898822delinsTCGCA1820995849TGc.3240_3242delinsTCG (p.Ser1080=)
n.154_156delinsTCG
c.140_142delinsTCG
c.199_201delinsTCG
c.2979_2981delinsTCG (p.Ser993=)
8g.132898821C>ACA463009516TGc.3241C>A (p.Arg1081=)
n.155C>A
c.141C>A
c.200C>A
c.2980C>A (p.Arg994=)
 ClinVar
8g.132898821C=CA1820995850TGc.3241C= (p.Arg1081=)
n.155C=
c.141C=
c.200C=
c.2980C= (p.Arg994=)
8g.132898821C>GCA10630302TGc.3241C>G (p.Arg1081Gly)
n.155C>G
c.141C>G
c.200C>G
c.2980C>G (p.Arg994Gly)
 ClinVar dbSNP
8g.132898821C>TCA4883691TGc.3241C>T (p.Arg1081Ter)
n.155C>T
c.141C>T
c.200C>T
c.2980C>T (p.Arg994Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132898821_132898822delCA4883690TGc.3241_3242del (p.Arg1081AsnfsTer12)
n.155_156del
c.141_142del
c.200_201del
c.2980_2981del (p.Arg994AsnfsTer12)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132898822G>ACA372241061TGc.3242G>A (p.Arg1081Gln)
n.156G>A
c.142G>A
c.201G>A
c.2981G>A (p.Arg994Gln)
 dbSNP gnomAD v2 gnomAD v4
8g.132898822G>CCA372241063TGc.3242G>C (p.Arg1081Pro)
n.156G>C
c.142G>C
c.201G>C
c.2981G>C (p.Arg994Pro)
 gnomAD v4
8g.132898822G=CA1820995851TGc.3242G= (p.Arg1081=)
n.156G=
c.142G=
c.201G=
c.2981G= (p.Arg994=)
8g.132898822G>TCA372241065TGc.3242G>T (p.Arg1081Leu)
n.156G>T
c.142G>T
c.201G>T
c.2981G>T (p.Arg994Leu)
8g.132898823A>CCA463009518TGc.3243A>C (p.Arg1081=)
n.157A>C
c.143A>C
c.202A>C
c.2982A>C (p.Arg994=)
8g.132898823A>GCA463009519TGc.3243A>G (p.Arg1081=)
n.157A>G
c.143A>G
c.202A>G
c.2982A>G (p.Arg994=)
8g.132898823A>TCA463009517TGc.3243A>T (p.Arg1081=)
n.157A>T
c.143A>T
c.202A>T
c.2982A>T (p.Arg994=)
8g.132898824A>CCA372241069TGc.3244A>C (p.Thr1082Pro)
n.158A>C
c.144A>C
c.203A>C
c.2983A>C (p.Thr995Pro)
8g.132898824A>GCA372241070TGc.3244A>G (p.Thr1082Ala)
n.158A>G
c.144A>G
c.203A>G
c.2983A>G (p.Thr995Ala)
 gnomAD v4
8g.132898824A>TCA372241071TGc.3244A>T (p.Thr1082Ser)
n.158A>T
c.144A>T
c.203A>T
c.2983A>T (p.Thr995Ser)
8g.132898824_132898839delinsACCAGTGGGCTGCTTTCA1820995852TGc.3244_3259delinsACCAGTGGGCTGCTTT (p.Thr1082=)
n.158_173delinsACCAGTGGGCTGCTTT
c.144_159delinsACCAGTGGGCTGCTTT
c.203_218delinsACCAGTGGGCTGCTTT
c.2983_2998delinsACCAGTGGGCTGCTTT (p.Thr995=)
8g.132898825C>ACA372241073TGc.3245C>A (p.Thr1082Asn)
n.159C>A
c.145C>A
c.204C>A
c.2984C>A (p.Thr995Asn)
8g.132898825C=CA1820995853TGc.3245C= (p.Thr1082=)
n.159C=
c.145C=
c.204C=
c.2984C= (p.Thr995=)
8g.132898825C>GCA372241072TGc.3245C>G (p.Thr1082Ser)
n.159C>G
c.145C>G
c.204C>G
c.2984C>G (p.Thr995Ser)
8g.132898825C>TCA4883693TGc.3245C>T (p.Thr1082Ile)
n.159C>T
c.145C>T
c.204C>T
c.2984C>T (p.Thr995Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132898830_132898844delCA4883692TGc.3250_3264del (p.Gly1084_Ser1088del)
n.164_178del
c.150_164del
c.209_223del
c.2989_3003del (p.Gly997_Ser1001del)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132898826C>ACA463009520TGc.3246C>A (p.Thr1082=)
n.160C>A
c.146C>A
c.205C>A
c.2985C>A (p.Thr995=)
8g.132898826C=CA1820995854TGc.3246C= (p.Thr1082=)
n.160C=
c.146C=
c.205C=
c.2985C= (p.Thr995=)
8g.132898826C>GCA463009521TGc.3246C>G (p.Thr1082=)
n.160C>G
c.146C>G
c.205C>G
c.2985C>G (p.Thr995=)
 dbSNP gnomAD v4
8g.132898826C>TCA463009522TGc.3246C>T (p.Thr1082=)
n.160C>T
c.146C>T
c.205C>T
c.2985C>T (p.Thr995=)
 ClinVar
8g.132898827A=CA1820995855TGc.3247A= (p.Ser1083=)
n.161A=
c.147A=
c.206A=
c.2986A= (p.Ser996=)
8g.132898827A>CCA372241075TGc.3247A>C (p.Ser1083Arg)
n.161A>C
c.147A>C
c.206A>C
c.2986A>C (p.Ser996Arg)
8g.132898827A>GCA4883694TGc.3247A>G (p.Ser1083Gly)
n.161A>G
c.147A>G
c.206A>G
c.2986A>G (p.Ser996Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132898827A>TCA372241078TGc.3247A>T (p.Ser1083Cys)
n.161A>T
c.147A>T
c.206A>T
c.2986A>T (p.Ser996Cys)
8g.132898828G>ACA372241079TGc.3248G>A (p.Ser1083Asn)
n.162G>A
c.148G>A
c.207G>A
c.2987G>A (p.Ser996Asn)
8g.132898828G>CCA372241080TGc.3248G>C (p.Ser1083Thr)
n.162G>C
c.148G>C
c.207G>C
c.2987G>C (p.Ser996Thr)
 COSMIC
8g.132898828G>TCA372241081TGc.3248G>T (p.Ser1083Ile)
n.162G>T
c.148G>T
c.207G>T
c.2987G>T (p.Ser996Ile)
8g.132898829T>ACA372241082TGc.3249T>A (p.Ser1083Arg)
n.163T>A
c.149T>A
c.208T>A
c.2988T>A (p.Ser996Arg)
8g.132898829T>CCA463009523TGc.3249T>C (p.Ser1083=)
n.163T>C
c.149T>C
c.208T>C
c.2988T>C (p.Ser996=)
8g.132898829T>GCA4883695TGc.3249T>G (p.Ser1083Arg)
n.163T>G
c.149T>G
c.208T>G
c.2988T>G (p.Ser996Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132898829T=CA1820995856TGc.3249T= (p.Ser1083=)
n.163T=
c.149T=
c.208T=
c.2988T= (p.Ser996=)
8g.132898830G>ACA372241086TGc.3250G>A (p.Gly1084Arg)
n.164G>A
c.150G>A
c.209G>A
c.2989G>A (p.Gly997Arg)
8g.132898830G>CCA372241088TGc.3250G>C (p.Gly1084Arg)
n.164G>C
c.150G>C
c.209G>C
c.2989G>C (p.Gly997Arg)
8g.132898830G>TCA372241092TGc.3250G>T (p.Gly1084Trp)
n.164G>T
c.150G>T
c.209G>T
c.2989G>T (p.Gly997Trp)
 gnomAD v3 gnomAD v4
8g.132898831G>ACA372241099TGc.3251G>A (p.Gly1084Glu)
n.165G>A
c.151G>A
c.210G>A
c.2990G>A (p.Gly997Glu)
8g.132898831G>CCA372241101TGc.3251G>C (p.Gly1084Ala)
n.165G>C
c.151G>C
c.210G>C
c.2990G>C (p.Gly997Ala)
8g.132898831G>TCA372241096TGc.3251G>T (p.Gly1084Val)
n.165G>T
c.151G>T
c.210G>T
c.2990G>T (p.Gly997Val)
8g.132898832G>ACA463009524TGc.3252G>A (p.Gly1084=)
n.166G>A
c.152G>A
c.211G>A
c.2991G>A (p.Gly997=)
 ClinVar dbSNP
8g.132898832G>CCA463009525TGc.3252G>C (p.Gly1084=)
n.166G>C
c.152G>C
c.211G>C
c.2991G>C (p.Gly997=)
8g.132898832G=CA1820995857TGc.3252G= (p.Gly1084=)
n.166G=
c.152G=
c.211G=
c.2991G= (p.Gly997=)
8g.132898832G>TCA186292929TGc.3252G>T (p.Gly1084=)
n.166G>T
c.152G>T
c.211G>T
c.2991G>T (p.Gly997=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132898833C>ACA372241105TGc.3253C>A (p.Leu1085Met)
n.167C>A
c.153C>A
c.212C>A
c.2992C>A (p.Leu998Met)
8g.132898833C>GCA372241108TGc.3253C>G (p.Leu1085Val)
n.167C>G
c.153C>G
c.212C>G
c.2992C>G (p.Leu998Val)
8g.132898833C>TCA463009526TGc.3253C>T (p.Leu1085=)
n.167C>T
c.153C>T
c.212C>T
c.2992C>T (p.Leu998=)
 gnomAD v4
8g.132898834T>ACA372241110TGc.3254T>A (p.Leu1085Gln)
n.168T>A
c.154T>A
c.213T>A
c.2993T>A (p.Leu998Gln)
8g.132898834T>CCA372241114TGc.3254T>C (p.Leu1085Pro)
n.168T>C
c.154T>C
c.213T>C
c.2993T>C (p.Leu998Pro)
8g.132898834T>GCA372241117TGc.3254T>G (p.Leu1085Arg)
n.168T>G
c.154T>G
c.213T>G
c.2993T>G (p.Leu998Arg)
8g.132898835G>ACA463009527TGc.3255G>A (p.Leu1085=)
n.169G>A
c.155G>A
c.214G>A
c.2994G>A (p.Leu998=)
 gnomAD v4
8g.132898835G>CCA463009528TGc.3255G>C (p.Leu1085=)
n.169G>C
c.155G>C
c.214G>C
c.2994G>C (p.Leu998=)
8g.132898835G>TCA463009529TGc.3255G>T (p.Leu1085=)
n.169G>T
c.155G>T
c.214G>T
c.2994G>T (p.Leu998=)
8g.132898836C>ACA372241119TGc.3256C>A (p.Leu1086Ile)
n.170C>A
c.156C>A
c.215C>A
c.2995C>A (p.Leu999Ile)
8g.132898836C>GCA372241121TGc.3256C>G (p.Leu1086Val)
n.170C>G
c.156C>G
c.215C>G
c.2995C>G (p.Leu999Val)
8g.132898836C>TCA372241122TGc.3256C>T (p.Leu1086Phe)
n.170C>T
c.156C>T
c.215C>T
c.2995C>T (p.Leu999Phe)
8g.132898837T>ACA372241125TGc.3257T>A (p.Leu1086His)
n.171T>A
c.157T>A
c.216T>A
c.2996T>A (p.Leu999His)
8g.132898837T>CCA372241130TGc.3257T>C (p.Leu1086Pro)
n.171T>C
c.157T>C
c.216T>C
c.2996T>C (p.Leu999Pro)
8g.132898837T>GCA372241134TGc.3257T>G (p.Leu1086Arg)
n.171T>G
c.157T>G
c.216T>G
c.2996T>G (p.Leu999Arg)
8g.132898838T>ACA463009531TGc.3258T>A (p.Leu1086=)
n.172T>A
c.158T>A
c.217T>A
c.2997T>A (p.Leu999=)
8g.132898838T>CCA463009533TGc.3258T>C (p.Leu1086=)
n.172T>C
c.158T>C
c.217T>C
c.2997T>C (p.Leu999=)
8g.132898838T>GCA463009535TGc.3258T>G (p.Leu1086=)
n.172T>G
c.158T>G
c.217T>G
c.2997T>G (p.Leu999=)
8g.132898839T>ACA372241144TGc.3259T>A (p.Ser1087Thr)
n.173T>A
c.159T>A
c.218T>A
c.2998T>A (p.Ser1000Thr)
8g.132898839T>CCA372241142TGc.3259T>C (p.Ser1087Pro)
n.173T>C
c.159T>C
c.218T>C
c.2998T>C (p.Ser1000Pro)
8g.132898839T>GCA372241141TGc.3259T>G (p.Ser1087Ala)
n.173T>G
c.159T>G
c.218T>G
c.2998T>G (p.Ser1000Ala)
8g.132898840C>ACA372241147TGc.3260C>A (p.Ser1087Tyr)
n.174C>A
c.160C>A
c.219C>A
c.2999C>A (p.Ser1000Tyr)
8g.132898840C>GCA372241150TGc.3260C>G (p.Ser1087Cys)
n.174C>G
c.160C>G
c.219C>G
c.2999C>G (p.Ser1000Cys)
8g.132898840C>TCA372241152TGc.3260C>T (p.Ser1087Phe)
n.174C>T
c.160C>T
c.219C>T
c.2999C>T (p.Ser1000Phe)
8g.132898841C>ACA463009537TGc.3261C>A (p.Ser1087=)
n.175C>A
c.161C>A
c.220C>A
c.3000C>A (p.Ser1000=)
8g.132898841C=CA1820995858TGc.3261C= (p.Ser1087=)
n.175C=
c.161C=
c.220C=
c.3000C= (p.Ser1000=)
8g.132898841C>GCA463009539TGc.3261C>G (p.Ser1087=)
n.175C>G
c.161C>G
c.220C>G
c.3000C>G (p.Ser1000=)
8g.132898841C>TCA463009538TGc.3261C>T (p.Ser1087=)
n.175C>T
c.161C>T
c.220C>T
c.3000C>T (p.Ser1000=)
 dbSNP gnomAD v2 gnomAD v4
8g.132898842A>CCA372241154TGc.3262A>C (p.Ser1088Arg)
n.176A>C
c.162A>C
c.221A>C
c.3001A>C (p.Ser1001Arg)
8g.132898842A>GCA372241155TGc.3262A>G (p.Ser1088Gly)
n.176A>G
c.162A>G
c.221A>G
c.3001A>G (p.Ser1001Gly)
8g.132898842A>TCA372241156TGc.3262A>T (p.Ser1088Cys)
n.176A>T
c.162A>T
c.221A>T
c.3001A>T (p.Ser1001Cys)
8g.132898843G>ACA372241157TGc.3263G>A (p.Ser1088Asn)
n.177G>A
c.163G>A
c.222G>A
c.3002G>A (p.Ser1001Asn)
 dbSNP
8g.132898843G>CCA372241159TGc.3263G>C (p.Ser1088Thr)
n.177G>C
c.163G>C
c.222G>C
c.3002G>C (p.Ser1001Thr)
8g.132898843G=CA1820995859TGc.3263G= (p.Ser1088=)
n.177G=
c.163G=
c.222G=
c.3002G= (p.Ser1001=)
8g.132898843G>TCA372241168TGc.3263G>T (p.Ser1088Ile)
n.177G>T
c.163G>T
c.222G>T
c.3002G>T (p.Ser1001Ile)
8g.132898844T>ACA372241169TGc.3264T>A (p.Ser1088Arg)
n.178T>A
c.164T>A
c.223T>A
c.3003T>A (p.Ser1001Arg)
8g.132898844T>CCA463009540TGc.3264T>C (p.Ser1088=)
n.178T>C
c.164T>C
c.223T>C
c.3003T>C (p.Ser1001=)
 gnomAD v4
8g.132898844T>GCA372241170TGc.3264T>G (p.Ser1088Arg)
n.178T>G
c.164T>G
c.223T>G
c.3003T>G (p.Ser1001Arg)
8g.132898845T>ACA372241172TGc.3265T>A (p.Trp1089Arg)
n.179T>A
c.165T>A
c.224T>A
c.3004T>A (p.Trp1002Arg)
8g.132898845T>CCA372241175TGc.3265T>C (p.Trp1089Arg)
n.179T>C
c.165T>C
c.224T>C
c.3004T>C (p.Trp1002Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.132898845T>GCA372241178TGc.3265T>G (p.Trp1089Gly)
n.179T>G
c.165T>G
c.224T>G
c.3004T>G (p.Trp1002Gly)
 gnomAD v4
8g.132898845T=CA1820995860TGc.3265T= (p.Trp1089=)
n.179T=
c.165T=
c.224T=
c.3004T= (p.Trp1002=)
8g.132898846G>ACA372241182TGc.3266G>A (p.Trp1089Ter)
n.180G>A
c.166G>A
c.225G>A
c.3005G>A (p.Trp1002Ter)
 gnomAD v4
8g.132898846G>CCA372241187TGc.3266G>C (p.Trp1089Ser)
n.180G>C
c.166G>C
c.225G>C
c.3005G>C (p.Trp1002Ser)
8g.132898846G>TCA372241179TGc.3266G>T (p.Trp1089Leu)
n.180G>T
c.166G>T
c.225G>T
c.3005G>T (p.Trp1002Leu)
8g.132898847G>ACA372241190TGc.3267G>A (p.Trp1089Ter)
n.181G>A
c.167G>A
c.226G>A
c.3006G>A (p.Trp1002Ter)
8g.132898847G>CCA4883696TGc.3267G>C (p.Trp1089Cys)
n.181G>C
c.167G>C
c.226G>C
c.3006G>C (p.Trp1002Cys)
 dbSNP ExAC gnomAD v2
8g.132898847G=CA1820995861TGc.3267G= (p.Trp1089=)
n.181G=
c.167G=
c.226G=
c.3006G= (p.Trp1002=)
8g.132898847G>TCA372241200TGc.3267G>T (p.Trp1089Cys)
n.181G>T
c.167G>T
c.226G>T
c.3006G>T (p.Trp1002Cys)
8g.132898848A=CA1820995862TGc.3268A= (p.Lys1090=)
n.182A=
c.168A=
c.227A=
c.3007A= (p.Lys1003=)
8g.132898848A>CCA372241203TGc.3268A>C (p.Lys1090Gln)
n.182A>C
c.168A>C
c.227A>C
c.3007A>C (p.Lys1003Gln)
8g.132898848A>GCA372241210TGc.3268A>G (p.Lys1090Glu)
n.182A>G
c.168A>G
c.227A>G
c.3007A>G (p.Lys1003Glu)
 dbSNP gnomAD v4
8g.132898848A>TCA372241214TGc.3268A>T (p.Lys1090Ter)
n.182A>T
c.168A>T
c.227A>T
c.3007A>T (p.Lys1003Ter)
8g.132898849A=CA1820995863TGc.3269A= (p.Lys1090=)
n.183A=
c.169A=
c.228A=
c.3008A= (p.Lys1003=)
8g.132898849A>CCA4883697TGc.3269A>C (p.Lys1090Thr)
n.183A>C
c.169A>C
c.228A>C
c.3008A>C (p.Lys1003Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132898849A>GCA372241221TGc.3269A>G (p.Lys1090Arg)
n.183A>G
c.169A>G
c.228A>G
c.3008A>G (p.Lys1003Arg)
 dbSNP COSMIC
8g.132898849A>TCA372241223TGc.3269A>T (p.Lys1090Ile)
n.183A>T
c.169A>T
c.228A>T
c.3008A>T (p.Lys1003Ile)
8g.132898850A>CCA372241225TGc.3270A>C (p.Lys1090Asn)
n.184A>C
c.170A>C
c.229A>C
c.3009A>C (p.Lys1003Asn)
8g.132898850A>GCA463009543TGc.3270A>G (p.Lys1090=)
n.184A>G
c.170A>G
c.229A>G
c.3009A>G (p.Lys1003=)
8g.132898850A>TCA372241233TGc.3270A>T (p.Lys1090Asn)
n.184A>T
c.170A>T
c.229A>T
c.3009A>T (p.Lys1003Asn)
8g.132898851C>ACA372241241TGc.3271C>A (p.Gln1091Lys)
n.185C>A
c.171C>A
c.230C>A
c.3010C>A (p.Gln1004Lys)
8g.132898851C>GCA372241238TGc.3271C>G (p.Gln1091Glu)
n.185C>G
c.171C>G
c.230C>G
c.3010C>G (p.Gln1004Glu)
8g.132898851C>TCA372241236TGc.3271C>T (p.Gln1091Ter)
n.185C>T
c.171C>T
c.230C>T
c.3010C>T (p.Gln1004Ter)
 gnomAD v4
8g.132898852A=CA1820995864TGc.3272A= (p.Gln1091=)
n.186A=
c.172A=
c.231A=
c.3011A= (p.Gln1004=)
8g.132898852A>CCA372241244TGc.3272A>C (p.Gln1091Pro)
n.186A>C
c.172A>C
c.231A>C
c.3011A>C (p.Gln1004Pro)
8g.132898852A>GCA4883698TGc.3272A>G (p.Gln1091Arg)
n.186A>G
c.172A>G
c.231A>G
c.3011A>G (p.Gln1004Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132898852A>TCA372241247TGc.3272A>T (p.Gln1091Leu)
n.186A>T
c.172A>T
c.231A>T
c.3011A>T (p.Gln1004Leu)
8g.132898853G>ACA463009547TGc.3273G>A (p.Gln1091=)
n.187G>A
c.173G>A
c.232G>A
c.3012G>A (p.Gln1004=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.132898853G>CCA372241249TGc.3273G>C (p.Gln1091His)
n.187G>C
c.173G>C
c.232G>C
c.3012G>C (p.Gln1004His)
8g.132898853G=CA1820995865TGc.3273G= (p.Gln1091=)
n.187G=
c.173G=
c.232G=
c.3012G= (p.Gln1004=)
8g.132898853G>TCA372241250TGc.3273G>T (p.Gln1091His)
n.187G>T
c.173G>T
c.232G>T
c.3012G>T (p.Gln1004His)
8g.132898854G>ACA372241252TGc.3274G>A (p.Ala1092Thr)
n.188G>A
c.174G>A
c.233G>A
c.3013G>A (p.Ala1005Thr)
 gnomAD v4
8g.132898854G>CCA372241254TGc.3274G>C (p.Ala1092Pro)
n.188G>C
c.174G>C
c.233G>C
c.3013G>C (p.Ala1005Pro)
8g.132898854G=CA1820995866TGc.3274G= (p.Ala1092=)
n.188G=
c.174G=
c.233G=
c.3013G= (p.Ala1005=)
8g.132898854G>TCA4883699TGc.3274G>T (p.Ala1092Ser)
n.188G>T
c.174G>T
c.233G>T
c.3013G>T (p.Ala1005Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132898855C>ACA372241258TGc.3275C>A (p.Ala1092Asp)
n.189C>A
c.175C>A
c.234C>A
c.3014C>A (p.Ala1005Asp)
8g.132898855C>GCA372241260TGc.3275C>G (p.Ala1092Gly)
n.189C>G
c.175C>G
c.234C>G
c.3014C>G (p.Ala1005Gly)
8g.132898855C>TCA372241263TGc.3275C>T (p.Ala1092Val)
n.189C>T
c.175C>T
c.234C>T
c.3014C>T (p.Ala1005Val)
8g.132898856T>ACA463009548TGc.3276T>A (p.Ala1092=)
n.190T>A
c.176T>A
c.235T>A
c.3015T>A (p.Ala1005=)
8g.132898856T>CCA463009549TGc.3276T>C (p.Ala1092=)
n.190T>C
c.176T>C
c.235T>C
c.3015T>C (p.Ala1005=)
8g.132898856T>GCA463009550TGc.3276T>G (p.Ala1092=)
n.190T>G
c.176T>G
c.235T>G
c.3015T>G (p.Ala1005=)
8g.132898857A>CCA463009553TGc.3277A>C (p.Arg1093=)
n.191A>C
c.177A>C
c.236A>C
c.3016A>C (p.Arg1006=)
8g.132898857A>GCA372241266TGc.3277A>G (p.Arg1093Gly)
n.191A>G
c.177A>G
c.236A>G
c.3016A>G (p.Arg1006Gly)
8g.132898857A>TCA372241269TGc.3277A>T (p.Arg1093Ter)
n.191A>T
c.177A>T
c.236A>T
c.3016A>T (p.Arg1006Ter)
8g.132898858G>ACA372241275TGc.3278G>A (p.Arg1093Lys)
n.192G>A
c.178G>A
c.237G>A
c.3017G>A (p.Arg1006Lys)
8g.132898858G>CCA372241277TGc.3278G>C (p.Arg1093Thr)
n.192G>C
c.178G>C
c.237G>C
c.3017G>C (p.Arg1006Thr)
8g.132898858G>TCA372241272TGc.3278G>T (p.Arg1093Ile)
n.192G>T
c.178G>T
c.237G>T
c.3017G>T (p.Arg1006Ile)
8g.132898859A>CCA372241283TGc.3279A>C (p.Arg1093Ser)
n.193A>C
c.179A>C
c.238A>C
c.3018A>C (p.Arg1006Ser)
8g.132898859A>GCA463009557TGc.3279A>G (p.Arg1093=)
n.193A>G
c.179A>G
c.238A>G
c.3018A>G (p.Arg1006=)
8g.132898859A>TCA372241280TGc.3279A>T (p.Arg1093Ser)
n.193A>T
c.179A>T
c.238A>T
c.3018A>T (p.Arg1006Ser)
8g.132898860T>ACA372241285TGc.3280T>A (p.Ser1094Thr)
n.194T>A
c.180T>A
c.239T>A
c.3019T>A (p.Ser1007Thr)
8g.132898860T>CCA372241287TGc.3280T>C (p.Ser1094Pro)
n.194T>C
c.180T>C
c.239T>C
c.3019T>C (p.Ser1007Pro)
8g.132898860T>GCA372241290TGc.3280T>G (p.Ser1094Ala)
n.194T>G
c.180T>G
c.239T>G
c.3019T>G (p.Ser1007Ala)
8g.132898861C>ACA372241293TGc.3281C>A (p.Ser1094Tyr)
n.195C>A
c.181C>A
c.240C>A
c.3020C>A (p.Ser1007Tyr)
8g.132898861C>GCA372241295TGc.3281C>G (p.Ser1094Cys)
n.195C>G
c.181C>G
c.240C>G
c.3020C>G (p.Ser1007Cys)
8g.132898861C>TCA372241297TGc.3281C>T (p.Ser1094Phe)
n.195C>T
c.181C>T
c.240C>T
c.3020C>T (p.Ser1007Phe)
 gnomAD v4 COSMIC
8g.132898863delCA2782271653TGc.3283del (p.Gln1095LysfsTer15)
n.197del
c.183del
c.242del
c.3022del (p.Gln1008LysfsTer15)
8g.132898862C>ACA463009558TGc.3282C>A (p.Ser1094=)
n.196C>A
c.182C>A
c.241C>A
c.3021C>A (p.Ser1007=)
8g.132898862C=CA1820995867TGc.3282C= (p.Ser1094=)
n.196C=
c.182C=
c.241C=
c.3021C= (p.Ser1007=)
8g.132898862C>GCA463009560TGc.3282C>G (p.Ser1094=)
n.196C>G
c.182C>G
c.241C>G
c.3021C>G (p.Ser1007=)
 ClinVar
8g.132898862C>TCA463009559TGc.3282C>T (p.Ser1094=)
n.196C>T
c.182C>T
c.241C>T
c.3021C>T (p.Ser1007=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.132898863C>ACA372241300TGc.3283C>A (p.Gln1095Lys)
n.197C>A
c.183C>A
c.242C>A
c.3022C>A (p.Gln1008Lys)
 COSMIC
8g.132898863C>GCA372241303TGc.3283C>G (p.Gln1095Glu)
n.197C>G
c.183C>G
c.242C>G
c.3022C>G (p.Gln1008Glu)
8g.132898863C>TCA372241305TGc.3283C>T (p.Gln1095Ter)
n.197C>T
c.183C>T
c.242C>T
c.3022C>T (p.Gln1008Ter)
 gnomAD v4
8g.132898864A>CCA372241307TGc.3284A>C (p.Gln1095Pro)
n.198A>C
c.184A>C
c.243A>C
c.3023A>C (p.Gln1008Pro)
8g.132898864A>GCA372241311TGc.3284A>G (p.Gln1095Arg)
n.198A>G
c.184A>G
c.243A>G
c.3023A>G (p.Gln1008Arg)
8g.132898864A>TCA372241314TGc.3284A>T (p.Gln1095Leu)
n.198A>T
c.184A>T
c.243A>T
c.3023A>T (p.Gln1008Leu)
8g.132898865A>CCA372241319TGc.3285A>C (p.Gln1095His)
n.199A>C
c.185A>C
c.244A>C
c.3024A>C (p.Gln1008His)
8g.132898865A>GCA463009564TGc.3285A>G (p.Gln1095=)
n.199A>G
c.185A>G
c.244A>G
c.3024A>G (p.Gln1008=)
8g.132898865A>TCA372241316TGc.3285A>T (p.Gln1095His)
n.199A>T
c.185A>T
c.244A>T
c.3024A>T (p.Gln1008His)
8g.132898866G>ACA372241322TGc.3286G>A (p.Glu1096Lys)
n.200G>A
c.186G>A
c.245G>A
c.3025G>A (p.Glu1009Lys)
8g.132898866G>CCA372241324TGc.3286G>C (p.Glu1096Gln)
n.200G>C
c.186G>C
c.245G>C
c.3025G>C (p.Glu1009Gln)
8g.132898866G>TCA372241327TGc.3286G>T (p.Glu1096Ter)
n.200G>T
c.186G>T
c.245G>T
c.3025G>T (p.Glu1009Ter)
8g.132898867A=CA1820995868TGc.3287A= (p.Glu1096=)
n.201A=
c.187A=
c.246A=
c.3026A= (p.Glu1009=)
8g.132898867A>CCA372241329TGc.3287A>C (p.Glu1096Ala)
n.201A>C
c.187A>C
c.246A>C
c.3026A>C (p.Glu1009Ala)
8g.132898867A>GCA4883700TGc.3287A>G (p.Glu1096Gly)
n.201A>G
c.187A>G
c.246A>G
c.3026A>G (p.Glu1009Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132898867A>TCA372241330TGc.3287A>T (p.Glu1096Val)
n.201A>T
c.187A>T
c.246A>T
c.3026A>T (p.Glu1009Val)
8g.132898868A>CCA372241333TGc.3288A>C (p.Glu1096Asp)
n.202A>C
c.188A>C
c.247A>C
c.3027A>C (p.Glu1009Asp)
8g.132898868A>GCA463009565TGc.3288A>G (p.Glu1096=)
n.202A>G
c.188A>G
c.247A>G
c.3027A>G (p.Glu1009=)
8g.132898868A>TCA372241338TGc.3288A>T (p.Glu1096Asp)
n.202A>T
c.188A>T
c.247A>T
c.3027A>T (p.Glu1009Asp)
 COSMIC
8g.132898869A=CA1820995869TGc.3289A= (p.Asn1097=)
n.203A=
c.189A=
c.248A=
c.3028A= (p.Asn1010=)
8g.132898869A>CCA372241341TGc.3289A>C (p.Asn1097His)
n.203A>C
c.189A>C
c.248A>C
c.3028A>C (p.Asn1010His)
 dbSNP gnomAD v2 gnomAD v4
8g.132898869A>GCA372241344TGc.3289A>G (p.Asn1097Asp)
n.203A>G
c.189A>G
c.248A>G
c.3028A>G (p.Asn1010Asp)
8g.132898869A>TCA372241347TGc.3289A>T (p.Asn1097Tyr)
n.203A>T
c.189A>T
c.248A>T
c.3028A>T (p.Asn1010Tyr)
8g.132898870A=CA1820995870TGc.3290A= (p.Asn1097=)
n.204A=
c.190A=
c.249A=
c.3029A= (p.Asn1010=)
8g.132898870A>CCA372241349TGc.3290A>C (p.Asn1097Thr)
n.204A>C
c.190A>C
c.249A>C
c.3029A>C (p.Asn1010Thr)
 dbSNP
8g.132898870A>GCA372241351TGc.3290A>G (p.Asn1097Ser)
n.204A>G
c.190A>G
c.249A>G
c.3029A>G (p.Asn1010Ser)
 COSMIC
8g.132898870A>TCA372241353TGc.3290A>T (p.Asn1097Ile)
n.204A>T
c.190A>T
c.249A>T
c.3029A>T (p.Asn1010Ile)
8g.132898871C>ACA372241356TGc.3291C>A (p.Asn1097Lys)
n.205C>A
c.191C>A
c.250C>A
c.3030C>A (p.Asn1010Lys)
8g.132898871C>GCA372241359TGc.3291C>G (p.Asn1097Lys)
n.205C>G
c.191C>G
c.250C>G
c.3030C>G (p.Asn1010Lys)
 COSMIC
8g.132898871C>TCA463009572TGc.3291C>T (p.Asn1097=)
n.205C>T
c.191C>T
c.250C>T
c.3030C>T (p.Asn1010=)
8g.132898872C>ACA372241360TGc.3292C>A (p.Pro1098Thr)
n.206C>A
c.192C>A
c.251C>A
c.3031C>A (p.Pro1011Thr)
8g.132898872C=CA1820995871TGc.3292C= (p.Pro1098=)
n.206C=
c.192C=
c.251C=
c.3031C= (p.Pro1011=)
8g.132898872C>GCA4883701TGc.3292C>G (p.Pro1098Ala)
n.206C>G
c.192C>G
c.251C>G
c.3031C>G (p.Pro1011Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132898872C>TCA372241364TGc.3292C>T (p.Pro1098Ser)
n.206C>T
c.192C>T
c.251C>T
c.3031C>T (p.Pro1011Ser)
 dbSNP gnomAD v3 gnomAD v4
8g.132898873C>ACA372241368TGc.3293C>A (p.Pro1098Gln)
n.207C>A
c.193C>A
c.252C>A
c.3032C>A (p.Pro1011Gln)
 gnomAD v4 COSMIC
8g.132898873C>GCA372241370TGc.3293C>G (p.Pro1098Arg)
n.207C>G
c.193C>G
c.252C>G
c.3032C>G (p.Pro1011Arg)
8g.132898873C>TCA372241373TGc.3293C>T (p.Pro1098Leu)
n.207C>T
c.193C>T
c.252C>T
c.3032C>T (p.Pro1011Leu)
8g.132898874A>CCA463009574TGc.3294A>C (p.Pro1098=)
n.208A>C
c.194A>C
c.253A>C
c.3033A>C (p.Pro1011=)
8g.132898874A>GCA463009575TGc.3294A>G (p.Pro1098=)
n.208A>G
c.194A>G
c.253A>G
c.3033A>G (p.Pro1011=)
 gnomAD v4
8g.132898874A>TCA463009576TGc.3294A>T (p.Pro1098=)
n.208A>T
c.194A>T
c.253A>T
c.3033A>T (p.Pro1011=)
8g.132898875T>ACA372241379TGc.3295T>A (p.Ser1099Thr)
n.209T>A
c.195T>A
c.254T>A
c.3034T>A (p.Ser1012Thr)
8g.132898875T>CCA372241376TGc.3295T>C (p.Ser1099Pro)
n.209T>C
c.195T>C
c.254T>C
c.3034T>C (p.Ser1012Pro)
 gnomAD v4
8g.132898875T>GCA372241374TGc.3295T>G (p.Ser1099Ala)
n.209T>G
c.195T>G
c.254T>G
c.3034T>G (p.Ser1012Ala)
8g.132898876C>ACA372241381TGc.3296C>A (p.Ser1099Tyr)
n.210C>A
c.196C>A
c.255C>A
c.3035C>A (p.Ser1012Tyr)
8g.132898876C>GCA372241384TGc.3296C>G (p.Ser1099Cys)
n.210C>G
c.196C>G
c.255C>G
c.3035C>G (p.Ser1012Cys)
8g.132898876C>TCA372241387TGc.3296C>T (p.Ser1099Phe)
n.210C>T
c.196C>T
c.255C>T
c.3035C>T (p.Ser1012Phe)
8g.132898877T>ACA463009581TGc.3297T>A (p.Ser1099=)
n.211T>A
c.197T>A
c.256T>A
c.3036T>A (p.Ser1012=)
8g.132898877T>CCA463009579TGc.3297T>C (p.Ser1099=)
n.211T>C
c.197T>C
c.256T>C
c.3036T>C (p.Ser1012=)
8g.132898877T>GCA463009580TGc.3297T>G (p.Ser1099=)
n.211T>G
c.197T>G
c.256T>G
c.3036T>G (p.Ser1012=)
8g.132898878C>ACA372241393TGc.3298C>A (p.Pro1100Thr)
n.212C>A
c.198C>A
c.257C>A
c.3037C>A (p.Pro1013Thr)
8g.132898878C=CA1820995872TGc.3298C= (p.Pro1100=)
n.212C=
c.198C=
c.257C=
c.3037C= (p.Pro1013=)
8g.132898878C>GCA372241395TGc.3298C>G (p.Pro1100Ala)
n.212C>G
c.198C>G
c.257C>G
c.3037C>G (p.Pro1013Ala)
 dbSNP gnomAD v3 gnomAD v4
8g.132898878C>TCA372241397TGc.3298C>T (p.Pro1100Ser)
n.212C>T
c.198C>T
c.257C>T
c.3037C>T (p.Pro1013Ser)
8g.132898879C>ACA372241400TGc.3299C>A (p.Pro1100Gln)
n.213C>A
c.199C>A
c.258C>A
c.3038C>A (p.Pro1013Gln)
8g.132898879C=CA1820995873TGc.3299C= (p.Pro1100=)
n.213C=
c.199C=
c.258C=
c.3038C= (p.Pro1013=)
8g.132898879C>GCA372241404TGc.3299C>G (p.Pro1100Arg)
n.213C>G
c.199C>G
c.258C>G
c.3038C>G (p.Pro1013Arg)
8g.132898879C>TCA372241401TGc.3299C>T (p.Pro1100Leu)
n.213C>T
c.199C>T
c.258C>T
c.3038C>T (p.Pro1013Leu)
8g.132898880A=CA1820995874TGc.3300A= (p.Pro1100=)
n.214A=
c.200A=
c.259A=
c.3039A= (p.Pro1013=)
8g.132898880A>CCA463009583TGc.3300A>C (p.Pro1100=)
n.214A>C
c.200A>C
c.259A>C
c.3039A>C (p.Pro1013=)
 dbSNP gnomAD v2 gnomAD v4
8g.132898880A>GCA463009584TGc.3300A>G (p.Pro1100=)
n.214A>G
c.200A>G
c.259A>G
c.3039A>G (p.Pro1013=)
 gnomAD v4
8g.132898880A>TCA463009586TGc.3300A>T (p.Pro1100=)
n.214A>T
c.200A>T
c.259A>T
c.3039A>T (p.Pro1013=)
8g.132898883dupCA584923156TGc.3303dup (p.Asp1102ArgfsTer?)
n.217dup
c.203dup
c.262dup
c.3042dup (p.Asp1015ArgfsTer?)
 dbSNP gnomAD v2
8g.132898881A=CA1820995875TGc.3301A= (p.Lys1101=)
n.215A=
c.201A=
c.260A=
c.3040A= (p.Lys1014=)
8g.132898881A>CCA372241411TGc.3301A>C (p.Lys1101Gln)
n.215A>C
c.201A>C
c.260A>C
c.3040A>C (p.Lys1014Gln)
8g.132898881A>GCA4883702TGc.3301A>G (p.Lys1101Glu)
n.215A>G
c.201A>G
c.260A>G
c.3040A>G (p.Lys1014Glu)
 dbSNP ExAC gnomAD v2
8g.132898881A>TCA372241418TGc.3301A>T (p.Lys1101Ter)
n.215A>T
c.201A>T
c.260A>T
c.3040A>T (p.Lys1014Ter)
8g.132898882A>CCA372241421TGc.3302A>C (p.Lys1101Thr)
n.216A>C
c.202A>C
c.261A>C
c.3041A>C (p.Lys1014Thr)
8g.132898882A>GCA372241423TGc.3302A>G (p.Lys1101Arg)
n.216A>G
c.202A>G
c.261A>G
c.3041A>G (p.Lys1014Arg)
 dbSNP
8g.132898882A>TCA372241425TGc.3302A>T (p.Lys1101Ile)
n.216A>T
c.202A>T
c.261A>T
c.3041A>T (p.Lys1014Ile)
8g.132898883A>CCA372241428TGc.3303A>C (p.Lys1101Asn)
n.217A>C
c.203A>C
c.262A>C
c.3042A>C (p.Lys1014Asn)
8g.132898883A>GCA463009589TGc.3303A>G (p.Lys1101=)
n.217A>G
c.203A>G
c.262A>G
c.3042A>G (p.Lys1014=)
 gnomAD v4
8g.132898883A>TCA372241429TGc.3303A>T (p.Lys1101Asn)
n.217A>T
c.203A>T
c.262A>T
c.3042A>T (p.Lys1014Asn)
8g.132898884G>ACA372241432TGc.3304G>A (p.Asp1102Asn)
n.218G>A
c.204G>A
c.263G>A
c.3043G>A (p.Asp1015Asn)
8g.132898884G>CCA4883704TGc.3304G>C (p.Asp1102His)
n.218G>C
c.204G>C
c.263G>C
c.3043G>C (p.Asp1015His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132898884G=CA1820995876TGc.3304G= (p.Asp1102=)
n.218G=
c.204G=
c.263G=
c.3043G= (p.Asp1015=)
8g.132898884G>TCA4883703TGc.3304G>T (p.Asp1102Tyr)
n.218G>T
c.204G>T
c.263G>T
c.3043G>T (p.Asp1015Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132898885A=CA1820995877TGc.3305A= (p.Asp1102=)
n.219A=
c.205A=
c.264A=
c.3044A= (p.Asp1015=)
8g.132898885A>CCA372241443TGc.3305A>C (p.Asp1102Ala)
n.219A>C
c.205A>C
c.264A>C
c.3044A>C (p.Asp1015Ala)
 dbSNP
8g.132898885A>GCA372241446TGc.3305A>G (p.Asp1102Gly)
n.219A>G
c.205A>G
c.264A>G
c.3044A>G (p.Asp1015Gly)
8g.132898885A>TCA372241444TGc.3305A>T (p.Asp1102Val)
n.219A>T
c.205A>T
c.264A>T
c.3044A>T (p.Asp1015Val)
8g.132898886C>ACA4883705TGc.3306C>A (p.Asp1102Glu)
n.220C>A
c.206C>A
c.265C>A
c.3045C>A (p.Asp1015Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132898886C=CA1820995878TGc.3306C= (p.Asp1102=)
n.220C=
c.206C=
c.265C=
c.3045C= (p.Asp1015=)
8g.132898886C>GCA372241453TGc.3306C>G (p.Asp1102Glu)
n.220C>G
c.206C>G
c.265C>G
c.3045C>G (p.Asp1015Glu)
8g.132898886C>TCA463009592TGc.3306C>T (p.Asp1102=)
n.220C>T
c.206C>T
c.265C>T
c.3045C>T (p.Asp1015=)
8g.132898887C>ACA372241459TGc.3307C>A (p.Leu1103Met)
n.221C>A
c.207C>A
c.266C>A
c.3046C>A (p.Leu1016Met)
 gnomAD v4
8g.132898887C=CA1820995879TGc.3307C= (p.Leu1103=)
n.221C=
c.207C=
c.266C=
c.3046C= (p.Leu1016=)
8g.132898887C>GCA372241462TGc.3307C>G (p.Leu1103Val)
n.221C>G
c.207C>G
c.266C>G
c.3046C>G (p.Leu1016Val)
8g.132898887C>TCA463009593TGc.3307C>T (p.Leu1103=)
n.221C>T
c.207C>T
c.266C>T
c.3046C>T (p.Leu1016=)
 ClinVar dbSNP
8g.132898888T>ACA372241464TGc.3308T>A (p.Leu1103Gln)
n.222T>A
c.208T>A
c.267T>A
c.3047T>A (p.Leu1016Gln)
8g.132898888T>CCA372241466TGc.3308T>C (p.Leu1103Pro)
n.222T>C
c.208T>C
c.267T>C
c.3047T>C (p.Leu1016Pro)
8g.132898888T>GCA372241468TGc.3308T>G (p.Leu1103Arg)
n.222T>G
c.208T>G
c.267T>G
c.3047T>G (p.Leu1016Arg)
8g.132898889G>ACA463009595TGc.3309G>A (p.Leu1103=)
n.223G>A
c.209G>A
c.268G>A
c.3048G>A (p.Leu1016=)
 dbSNP gnomAD v2
8g.132898889G>CCA463009596TGc.3309G>C (p.Leu1103=)
n.223G>C
c.209G>C
c.268G>C
c.3048G>C (p.Leu1016=)
8g.132898889G=CA1820995880TGc.3309G= (p.Leu1103=)
n.223G=
c.209G=
c.268G=
c.3048G= (p.Leu1016=)
8g.132898889G>TCA463009597TGc.3309G>T (p.Leu1103=)
n.223G>T
c.209G>T
c.268G>T
c.3048G>T (p.Leu1016=)
8g.132898890T>ACA372241469TGc.3310T>A (p.Phe1104Ile)
n.224T>A
c.210T>A
c.269T>A
c.3049T>A (p.Phe1017Ile)
8g.132898890T>CCA372241472TGc.3310T>C (p.Phe1104Leu)
n.224T>C
c.210T>C
c.269T>C
c.3049T>C (p.Phe1017Leu)
8g.132898890T>GCA372241475TGc.3310T>G (p.Phe1104Val)
n.224T>G
c.210T>G
c.269T>G
c.3049T>G (p.Phe1017Val)
8g.132898891T>ACA372241479TGc.3311T>A (p.Phe1104Tyr)
n.225T>A
c.211T>A
c.270T>A
c.3050T>A (p.Phe1017Tyr)
8g.132898891T>CCA372241483TGc.3311T>C (p.Phe1104Ser)
n.225T>C
c.211T>C
c.270T>C
c.3050T>C (p.Phe1017Ser)
8g.132898891T>GCA372241487TGc.3311T>G (p.Phe1104Cys)
n.225T>G
c.211T>G
c.270T>G
c.3050T>G (p.Phe1017Cys)
8g.132898892C>ACA372241490TGc.3312C>A (p.Phe1104Leu)
n.226C>A
c.212C>A
c.271C>A
c.3051C>A (p.Phe1017Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.132898892C=CA1820995881TGc.3312C= (p.Phe1104=)
n.226C=
c.212C=
c.271C=
c.3051C= (p.Phe1017=)
8g.132898892C>GCA372241492TGc.3312C>G (p.Phe1104Leu)
n.226C>G
c.212C>G
c.271C>G
c.3051C>G (p.Phe1017Leu)
8g.132898892C>TCA463009602TGc.3312C>T (p.Phe1104=)
n.226C>T
c.212C>T
c.271C>T
c.3051C>T (p.Phe1017=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132898893G>ACA4883706TGc.3313G>A (p.Val1105Ile)
n.227G>A
c.213G>A
c.272G>A
c.3052G>A (p.Val1018Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132898893G>CCA372241495TGc.3313G>C (p.Val1105Leu)
n.227G>C
c.213G>C
c.272G>C
c.3052G>C (p.Val1018Leu)
 dbSNP gnomAD v4
8g.132898893G=CA1820995882TGc.3313G= (p.Val1105=)
n.227G=
c.213G=
c.272G=
c.3052G= (p.Val1018=)
8g.132898893G>TCA372241494TGc.3313G>T (p.Val1105Phe)
n.227G>T
c.213G>T
c.272G>T
c.3052G>T (p.Val1018Phe)
8g.132898894T>ACA372241497TGc.3314T>A (p.Val1105Asp)
n.228T>A
c.214T>A
c.273T>A
c.3053T>A (p.Val1018Asp)
8g.132898894T>CCA372241499TGc.3314T>C (p.Val1105Ala)
n.228T>C
c.214T>C
c.273T>C
c.3053T>C (p.Val1018Ala)
8g.132898894T>GCA372241501TGc.3314T>G (p.Val1105Gly)
n.228T>G
c.214T>G
c.273T>G
c.3053T>G (p.Val1018Gly)
8g.132898895C>ACA463009606TGc.3315C>A (p.Val1105=)
n.229C>A
c.215C>A
c.274C>A
c.3054C>A (p.Val1018=)
8g.132898895C=CA1820995883TGc.3315C= (p.Val1105=)
n.229C=
c.215C=
c.274C=
c.3054C= (p.Val1018=)
8g.132898895C>GCA463009607TGc.3315C>G (p.Val1105=)
n.229C>G
c.215C>G
c.274C>G
c.3054C>G (p.Val1018=)
8g.132898895C>TCA4883707TGc.3315C>T (p.Val1105=)
n.229C>T
c.215C>T
c.274C>T
c.3054C>T (p.Val1018=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132898896C>ACA372241506TGc.3316C>A (p.Pro1106Thr)
n.230C>A
c.216C>A
c.275C>A
c.3055C>A (p.Pro1019Thr)
 dbSNP gnomAD v2 gnomAD v4
8g.132898896C=CA1820995884TGc.3316C= (p.Pro1106=)
n.230C=
c.216C=
c.275C=
c.3055C= (p.Pro1019=)
8g.132898896C>GCA372241508TGc.3316C>G (p.Pro1106Ala)
n.230C>G
c.216C>G
c.275C>G
c.3055C>G (p.Pro1019Ala)
8g.132898896C>TCA186292958TGc.3316C>T (p.Pro1106Ser)
n.230C>T
c.216C>T
c.275C>T
c.3055C>T (p.Pro1019Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132898897C>ACA372241524TGc.3317C>A (p.Pro1106Gln)
n.231C>A
c.217C>A
c.276C>A
c.3056C>A (p.Pro1019Gln)
8g.132898897C>GCA372241526TGc.3317C>G (p.Pro1106Arg)
n.231C>G
c.217C>G
c.276C>G
c.3056C>G (p.Pro1019Arg)
8g.132898897C>TCA372241528TGc.3317C>T (p.Pro1106Leu)
n.231C>T
c.217C>T
c.276C>T
c.3056C>T (p.Pro1019Leu)
8g.132898898A>CCA463009613TGc.3318A>C (p.Pro1106=)
n.232A>C
c.218A>C
c.277A>C
c.3057A>C (p.Pro1019=)
8g.132898898A>GCA463009611TGc.3318A>G (p.Pro1106=)
n.232A>G
c.218A>G
c.277A>G
c.3057A>G (p.Pro1019=)
8g.132898898A>TCA463009612TGc.3318A>T (p.Pro1106=)
n.232A>T
c.218A>T
c.277A>T
c.3057A>T (p.Pro1019=)
8g.132898899G>ACA372241532TGc.3319G>A (p.Ala1107Thr)
n.233G>A
c.219G>A
c.278G>A
c.3058G>A (p.Ala1020Thr)
 dbSNP gnomAD v2 gnomAD v4
8g.132898899G>CCA372241534TGc.3319G>C (p.Ala1107Pro)
n.233G>C
c.219G>C
c.278G>C
c.3058G>C (p.Ala1020Pro)
 dbSNP gnomAD v3 gnomAD v4
8g.132898899G=CA1820995885TGc.3319G= (p.Ala1107=)
n.233G=
c.219G=
c.278G=
c.3058G= (p.Ala1020=)
8g.132898899G>TCA372241529TGc.3319G>T (p.Ala1107Ser)
n.233G>T
c.219G>T
c.278G>T
c.3058G>T (p.Ala1020Ser)
8g.132898900C>ACA372241537TGc.3320C>A (p.Ala1107Asp)
n.234C>A
c.220C>A
c.279C>A
c.3059C>A (p.Ala1020Asp)
8g.132898900C=CA1820995886TGc.3320C= (p.Ala1107=)
n.234C=
c.220C=
c.279C=
c.3059C= (p.Ala1020=)
8g.132898900C>GCA186292964TGc.3320C>G (p.Ala1107Gly)
n.234C>G
c.220C>G
c.279C>G
c.3059C>G (p.Ala1020Gly)
 dbSNP gnomAD v3 gnomAD v4
8g.132898900C>TCA372241541TGc.3320C>T (p.Ala1107Val)
n.234C>T
c.220C>T
c.279C>T
c.3059C>T (p.Ala1020Val)
 COSMIC
8g.132898901C>ACA463009616TGc.3321C>A (p.Ala1107=)
n.235C>A
c.221C>A
c.280C>A
c.3060C>A (p.Ala1020=)
8g.132898901C>GCA463009617TGc.3321C>G (p.Ala1107=)
n.235C>G
c.221C>G
c.280C>G
c.3060C>G (p.Ala1020=)
8g.132898901C>TCA463009618TGc.3321C>T (p.Ala1107=)
n.235C>T
c.221C>T
c.280C>T
c.3060C>T (p.Ala1020=)
8g.132898902T>ACA372241543TGc.3322T>A (p.Cys1108Ser)
n.236T>A
c.222T>A
c.281T>A
c.3061T>A (p.Cys1021Ser)
8g.132898902T>CCA372241546TGc.3322T>C (p.Cys1108Arg)
n.236T>C
c.222T>C
c.281T>C
c.3061T>C (p.Cys1021Arg)
8g.132898902T>GCA4883708TGc.3322T>G (p.Cys1108Gly)
n.236T>G
c.222T>G
c.281T>G
c.3061T>G (p.Cys1021Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132898902T=CA1820995887TGc.3322T= (p.Cys1108=)
n.236T=
c.222T=
c.281T=
c.3061T= (p.Cys1021=)
8g.132898903G>ACA372241551TGc.3323G>A (p.Cys1108Tyr)
n.237G>A
c.223G>A
c.282G>A
c.3062G>A (p.Cys1021Tyr)
 dbSNP gnomAD v4 COSMIC
8g.132898903G>CCA372241553TGc.3323G>C (p.Cys1108Ser)
n.237G>C
c.223G>C
c.282G>C
c.3062G>C (p.Cys1021Ser)
8g.132898903G=CA1820995888TGc.3323G= (p.Cys1108=)
n.237G=
c.223G=
c.282G=
c.3062G= (p.Cys1021=)
8g.132898903G>TCA4883709TGc.3323G>T (p.Cys1108Phe)
n.237G>T
c.223G>T
c.282G>T
c.3062G>T (p.Cys1021Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132898904C>ACA372241558TGc.3324C>A (p.Cys1108Ter)
n.238C>A
c.224C>A
c.283C>A
c.3063C>A (p.Cys1021Ter)
8g.132898904C>GCA372241564TGc.3324C>G (p.Cys1108Trp)
n.238C>G
c.224C>G
c.283C>G
c.3063C>G (p.Cys1021Trp)
8g.132898904C>TCA463009621TGc.3324C>T (p.Cys1108=)
n.238C>T
c.224C>T
c.283C>T
c.3063C>T (p.Cys1021=)
 COSMIC
8g.132898905C>ACA372241566TGc.3325C>A (p.Leu1109Ile)
n.239C>A
c.225C>A
c.284C>A
c.3064C>A (p.Leu1022Ile)
8g.132898905C>GCA372241568TGc.3325C>G (p.Leu1109Val)
n.239C>G
c.225C>G
c.284C>G
c.3064C>G (p.Leu1022Val)
 gnomAD v4
8g.132898905C>TCA463009622TGc.3325C>T (p.Leu1109=)
n.239C>T
c.225C>T
c.284C>T
c.3064C>T (p.Leu1022=)
 gnomAD v3 gnomAD v4
8g.132898906T>ACA372241581TGc.3326T>A (p.Leu1109Gln)
n.240T>A
c.226T>A
c.285T>A
c.3065T>A (p.Leu1022Gln)
8g.132898906T>CCA372241573TGc.3326T>C (p.Leu1109Pro)
n.240T>C
c.226T>C
c.285T>C
c.3065T>C (p.Leu1022Pro)
8g.132898906T>GCA372241571TGc.3326T>G (p.Leu1109Arg)
n.240T>G
c.226T>G
c.285T>G
c.3065T>G (p.Leu1022Arg)
8g.132898906T=CA1820995889TGc.3326T= (p.Leu1109=)
n.240T=
c.226T=
c.285T=
c.3065T= (p.Leu1022=)
8g.132898907A>CCA463009625TGc.3327A>C (p.Leu1109=)
n.241A>C
c.227A>C
c.286A>C
c.3066A>C (p.Leu1022=)
8g.132898907A>GCA463009626TGc.3327A>G (p.Leu1109=)
n.241A>G
c.227A>G
c.286A>G
c.3066A>G (p.Leu1022=)
 ClinVar
8g.132898907A>TCA463009628TGc.3327A>T (p.Leu1109=)
n.241A>T
c.227A>T
c.286A>T
c.3066A>T (p.Leu1022=)
8g.132898909_132898911dupCA4883710TGc.3329_3330+1dup
n.243_245dup
c.229_230+1dup
c.288_289+1dup
c.3068_3069+1dup
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132898908G>ACA372241584TGc.3328G>A (p.Glu1110Lys)
n.242G>A
c.228G>A
c.287G>A
c.3067G>A (p.Glu1023Lys)
8g.132898908G>CCA372241585TGc.3328G>C (p.Glu1110Gln)
n.242G>C
c.228G>C
c.287G>C
c.3067G>C (p.Glu1023Gln)
 COSMIC
8g.132898908G>TCA372241586TGc.3328G>T (p.Glu1110Ter)
n.242G>T
c.228G>T
c.287G>T
c.3067G>T (p.Glu1023Ter)
8g.132898909A>CCA372241587TGc.3329A>C (p.Glu1110Ala)
n.243A>C
c.229A>C
c.288A>C
c.3068A>C (p.Glu1023Ala)
8g.132898909A>GCA372241588TGc.3329A>G (p.Glu1110Gly)
n.243A>G
c.229A>G
c.288A>G
c.3068A>G (p.Glu1023Gly)
8g.132898909A>TCA372241589TGc.3329A>T (p.Glu1110Val)
n.243A>T
c.229A>T
c.288A>T
c.3068A>T (p.Glu1023Val)
8g.132898910A>CCA372241590TGc.3330A>C (p.Glu1110Asp)
n.244A>C
c.230A>C
c.289A>C
c.3069A>C (p.Glu1023Asp)
8g.132898910A>GCA463009630TGc.3330A>G (p.Glu1110=)
n.244A>G
c.230A>G
c.289A>G
c.3069A>G (p.Glu1023=)
 dbSNP gnomAD v4
8g.132898910A>TCA372241591TGc.3330A>T (p.Glu1110Asp)
n.244A>T
c.230A>T
c.289A>T
c.3069A>T (p.Glu1023Asp)
 gnomAD v4
8g.132898911G>ACA372241592TGc.3330+1G>A (n.3330+1G>A)
n.245G>A
c.230+1G>A
c.289+1G>A
c.3069+1G>A (n.3069+1G>A)
8g.132898911G>CCA372241593TGc.3330+1G>C (n.3330+1G>C)
n.245G>C
c.230+1G>C
c.289+1G>C
c.3069+1G>C (n.3069+1G>C)
8g.132898911G>TCA372241594TGc.3330+1G>T (n.3330+1G>T)
n.245G>T
c.230+1G>T
c.289+1G>T
c.3069+1G>T (n.3069+1G>T)
8g.132898912T>ACA372241597TGc.3330+2T>A (n.3330+2T>A)
n.246T>A
c.230+2T>A
c.289+2T>A
c.3069+2T>A (n.3069+2T>A)
8g.132898912T>CCA372241596TGc.3330+2T>C (n.3330+2T>C)
n.246T>C
c.230+2T>C
c.289+2T>C
c.3069+2T>C (n.3069+2T>C)
 dbSNP
8g.132898912T>GCA372241595TGc.3330+2T>G (n.3330+2T>G)
n.246T>G
c.230+2T>G
c.289+2T>G
c.3069+2T>G (n.3069+2T>G)
8g.132898913A>GCA2688649848TGc.3330+3A>G (n.3330+3A>G)
n.247A>G
c.230+3A>G
c.289+3A>G
c.3069+3A>G (n.3069+3A>G)
 gnomAD v4
8g.132898914A>TCA2688649849TGc.3330+4A>T (n.3330+4A>T)
n.248A>T
c.230+4A>T
c.289+4A>T
c.3069+4A>T (n.3069+4A>T)
 gnomAD v4
8g.132898915G>ACA584923164TGc.3330+5G>A (n.3330+5G>A)
n.249G>A
c.230+5G>A
c.289+5G>A
c.3069+5G>A (n.3069+5G>A)
 dbSNP gnomAD v2 gnomAD v4
8g.132898915G=CA1820995890TGc.3330+5G= (n.3330+5G=)
n.249G=
c.230+5G=
c.289+5G=
c.3069+5G= (n.3069+5G=)
8g.132898916G>ACA186293006TGc.3330+6G>A (n.3330+6G>A)
n.250G>A
c.230+6G>A
c.289+6G>A
c.3069+6G>A (n.3069+6G>A)
 dbSNP gnomAD v3 gnomAD v4
8g.132898916G=CA1820995891TGc.3330+6G= (n.3330+6G=)
n.250G=
c.230+6G=
c.289+6G=
c.3069+6G= (n.3069+6G=)
8g.132898916G>TCA4883711TGc.3330+6G>T (n.3330+6G>T)
n.250G>T
c.230+6G>T
c.289+6G>T
c.3069+6G>T (n.3069+6G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched