Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.1771120_1771129delinsGATCCGCTCCCA1757666600CLN8c.66_75delinsGATCCGCTCC (p.Gly22=)
c.19_28delinsGATCCGCTCC
8g.1771122_1771130delCA849329387CLN8c.68_76del (p.Ile23_Ser25del)
c.21_29del
 ClinVar dbSNP
8g.1771124_1771131delCA1109661011CLN8c.70_77del (p.Arg24AlafsTer?)
c.23_30del
 gnomAD v3 gnomAD v4
8g.1771129C>ACA459142853CLN8c.75C>A (p.Ser25=)
c.28C>A
8g.1771129C=CA1757666704CLN8c.75C= (p.Ser25=)
c.28C=
8g.1771129C>GCA459142854CLN8c.75C>G (p.Ser25=)
c.28C>G
8g.1771129C>TCA459142855CLN8c.75C>T (p.Ser25=)
c.28C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.1771130A=CA1757666707CLN8c.76A= (p.Thr26=)
c.29A=
8g.1771130A>CCA369952823CLN8c.76A>C (p.Thr26Pro)
c.29A>C
8g.1771130A>GCA369952824CLN8c.76A>G (p.Thr26Ala)
c.29A>G
8g.1771130A>TCA369952825CLN8c.76A>T (p.Thr26Ser)
c.29A>T
 ClinVar dbSNP
8g.1771131C>ACA369952826CLN8c.77C>A (p.Thr26Lys)
c.30C>A
8g.1771131C=CA1757666713CLN8c.77C= (p.Thr26=)
c.30C=
8g.1771131C>GCA369952827CLN8c.77C>G (p.Thr26Arg)
c.30C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.1771131C>TCA4599191CLN8c.77C>T (p.Thr26Met)
c.30C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.1771132G>ACA170445623CLN8c.78G>A (p.Thr26=)
c.31G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.1771132G>CCA459142857CLN8c.78G>C (p.Thr26=)
c.31G>C
 gnomAD v4
8g.1771132G=CA1757666719CLN8c.78G= (p.Thr26=)
c.31G=
8g.1771132G>TCA459142856CLN8c.78G>T (p.Thr26=)
c.31G>T
8g.1771133C>ACA369952828CLN8c.79C>A (p.Leu27Met)
c.32C>A
8g.1771133C=CA1757666721CLN8c.79C= (p.Leu27=)
c.32C=
8g.1771133C>GCA369952829CLN8c.79C>G (p.Leu27Val)
c.32C>G
 dbSNP gnomAD v4
8g.1771133C>TCA459142858CLN8c.79C>T (p.Leu27=)
c.32C>T
8g.1771134T>ACA369952830CLN8c.80T>A (p.Leu27Gln)
c.33T>A
8g.1771134T>CCA369952831CLN8c.80T>C (p.Leu27Pro)
c.33T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.1771134T>GCA369952832CLN8c.80T>G (p.Leu27Arg)
c.33T>G
8g.1771134T=CA1757666726CLN8c.80T= (p.Leu27=)
c.33T=
8g.1771135G>ACA459142859CLN8c.81G>A (p.Leu27=)
c.34G>A
8g.1771135G>CCA459142860CLN8c.81G>C (p.Leu27=)
c.34G>C
8g.1771135G>TCA459142861CLN8c.81G>T (p.Leu27=)
c.34G>T
8g.1771136A=CA1757666728CLN8c.82A= (p.Met28=)
c.35A=
8g.1771136A>CCA369952834CLN8c.82A>C (p.Met28Leu)
c.35A>C
8g.1771136A>GCA369952835CLN8c.82A>G (p.Met28Val)
c.35A>G
8g.1771136A>TCA369952833CLN8c.82A>T (p.Met28Leu)
c.35A>T
 dbSNP gnomAD v4
8g.1771137T>ACA369952836CLN8c.83T>A (p.Met28Lys)
c.36T>A
8g.1771137T>CCA369952837CLN8c.83T>C (p.Met28Thr)
c.36T>C
8g.1771137T>GCA369952838CLN8c.83T>G (p.Met28Arg)
c.36T>G
8g.1771138G>ACA170445625CLN8c.84G>A (p.Met28Ile)
c.37G>A
 dbSNP COSMIC COSMIC
8g.1771138G>CCA369952839CLN8c.84G>C (p.Met28Ile)
c.37G>C
 dbSNP gnomAD v3 gnomAD v4
8g.1771138G=CA1757666731CLN8c.84G= (p.Met28=)
c.37G=
8g.1771138G>TCA369952840CLN8c.84G>T (p.Met28Ile)
c.37G>T
 COSMIC COSMIC
8g.1771139G>ACA369952841CLN8c.85G>A (p.Val29Ile)
c.38G>A
8g.1771139G>CCA369952842CLN8c.85G>C (p.Val29Leu)
c.38G>C
8g.1771139G=CA1757666736CLN8c.85G= (p.Val29=)
c.38G=
8g.1771139G>TCA4599192CLN8c.85G>T (p.Val29Phe)
c.38G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771140T>ACA369952843CLN8c.86T>A (p.Val29Asp)
c.39T>A
8g.1771140T>CCA369952844CLN8c.86T>C (p.Val29Ala)
c.39T>C
8g.1771140T>GCA369952845CLN8c.86T>G (p.Val29Gly)
c.39T>G
8g.1771141C>ACA4599193CLN8c.87C>A (p.Val29=)
c.40C>A
 dbSNP ExAC gnomAD v2
8g.1771141C=CA1757666741CLN8c.87C= (p.Val29=)
c.40C=
8g.1771141C>GCA459142863CLN8c.87C>G (p.Val29=)
c.40C>G
8g.1771141C>TCA459142862CLN8c.87C>T (p.Val29=)
c.40C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.1771141_1771142delinsCGCA1757666740CLN8c.87_88delinsCG (p.Val29=)
c.40_41delinsCG
8g.1771142delCA264194CLN8c.88del (p.Ala30LeufsTer20)
c.41del
 ClinVar dbSNP
8g.1771142G>ACA4599195CLN8c.88G>A (p.Ala30Thr)
c.41G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.1771142G>CCA252420CLN8c.88G>C (p.Ala30Pro)
c.41G>C
 ClinVar dbSNP
8g.1771142G=CA1757666753CLN8c.88G= (p.Ala30=)
c.41G=
8g.1771142G>TCA4599194CLN8c.88G>T (p.Ala30Ser)
c.41G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771143C>ACA369952846CLN8c.89C>A (p.Ala30Asp)
c.42C>A
8g.1771143C>GCA369952847CLN8c.89C>G (p.Ala30Gly)
c.42C>G
8g.1771143C>TCA369952848CLN8c.89C>T (p.Ala30Val)
c.42C>T
 gnomAD v4
8g.1771144T>ACA459142864CLN8c.90T>A (p.Ala30=)
c.43T>A
8g.1771144T>CCA4599196CLN8c.90T>C (p.Ala30=)
c.43T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771144T>GCA170445637CLN8c.90T>G (p.Ala30=)
c.43T>G
 ClinVar dbSNP
8g.1771144T=CA1757666757CLN8c.90T= (p.Ala30=)
c.43T=
8g.1771145G>ACA369952851CLN8c.91G>A (p.Gly31Ser)
c.44G>A
 dbSNP gnomAD v3 gnomAD v4
8g.1771145G>CCA369952850CLN8c.91G>C (p.Gly31Arg)
c.44G>C
8g.1771145G=CA1757666760CLN8c.91G= (p.Gly31=)
c.44G=
8g.1771145G>TCA369952849CLN8c.91G>T (p.Gly31Cys)
c.44G>T
8g.1771146G>ACA369952852CLN8c.92G>A (p.Gly31Asp)
c.45G>A
 ClinVar dbSNP gnomAD v2
8g.1771146G>CCA369952853CLN8c.92G>C (p.Gly31Ala)
c.45G>C
 dbSNP
8g.1771146G=CA1757666765CLN8c.92G= (p.Gly31=)
c.45G=
8g.1771146G>TCA369952854CLN8c.92G>T (p.Gly31Val)
c.45G>T
 dbSNP gnomAD v2 gnomAD v4
8g.1771147C>ACA459142865CLN8c.93C>A (p.Gly31=)
c.46C>A
8g.1771147C=CA1757666768CLN8c.93C= (p.Gly31=)
c.46C=
8g.1771147C>GCA459142866CLN8c.93C>G (p.Gly31=)
c.46C>G
8g.1771147C>TCA170445639CLN8c.93C>T (p.Gly31=)
c.46C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.1771148T>ACA369952855CLN8c.94T>A (p.Phe32Ile)
c.47T>A
8g.1771148T>CCA4599197CLN8c.94T>C (p.Phe32Leu)
c.47T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771148T>GCA241756CLN8c.94T>G (p.Phe32Val)
c.47T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771148T=CA1757666773CLN8c.94T= (p.Phe32=)
c.47T=
8g.1771149T>ACA369952856CLN8c.95T>A (p.Phe32Tyr)
c.48T>A
8g.1771149T>CCA369952858CLN8c.95T>C (p.Phe32Ser)
c.48T>C
8g.1771149T>GCA369952857CLN8c.95T>G (p.Phe32Cys)
c.48T>G
8g.1771150T>ACA369952859CLN8c.96T>A (p.Phe32Leu)
c.49T>A
8g.1771150T>CCA459142867CLN8c.96T>C (p.Phe32=)
c.49T>C
 gnomAD v4
8g.1771150T>GCA369952860CLN8c.96T>G (p.Phe32Leu)
c.49T>G
8g.1771151G>ACA369952861CLN8c.97G>A (p.Val33Ile)
c.50G>A
8g.1771151G>CCA369952862CLN8c.97G>C (p.Val33Leu)
c.50G>C
 ClinVar dbSNP
8g.1771151G=CA1757666780CLN8c.97G= (p.Val33=)
c.50G=
8g.1771151G>TCA369952863CLN8c.97G>T (p.Val33Phe)
c.50G>T
8g.1771152T>ACA369952864CLN8c.98T>A (p.Val33Asp)
c.51T>A
 dbSNP gnomAD v2 gnomAD v4
8g.1771152T>CCA369952865CLN8c.98T>C (p.Val33Ala)
c.51T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.1771152T>GCA369952866CLN8c.98T>G (p.Val33Gly)
c.51T>G
 dbSNP gnomAD v3 gnomAD v4
8g.1771152T=CA1757666786CLN8c.98T= (p.Val33=)
c.51T=
8g.1771153C>ACA459142868CLN8c.99C>A (p.Val33=)
c.52C>A
8g.1771153C=CA1757666789CLN8c.99C= (p.Val33=)
c.52C=
8g.1771153C>GCA459142869CLN8c.99C>G (p.Val33=)
c.52C>G
 dbSNP gnomAD v3 gnomAD v4
8g.1771153C>TCA170445643CLN8c.99C>T (p.Val33=)
c.52C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.1771154T>ACA369952867CLN8c.100T>A (p.Phe34Ile)
c.53T>A
8g.1771154T>CCA369952868CLN8c.100T>C (p.Phe34Leu)
c.53T>C
8g.1771154T>GCA369952869CLN8c.100T>G (p.Phe34Val)
c.53T>G
8g.1771155T>ACA369952870CLN8c.101T>A (p.Phe34Tyr)
c.54T>A
8g.1771155T>CCA369952871CLN8c.101T>C (p.Phe34Ser)
c.54T>C
8g.1771155T>GCA369952872CLN8c.101T>G (p.Phe34Cys)
c.54T>G
8g.1771156C>ACA369952874CLN8c.102C>A (p.Phe34Leu)
c.55C>A
8g.1771156C>GCA369952873CLN8c.102C>G (p.Phe34Leu)
c.55C>G
8g.1771156C>TCA459142870CLN8c.102C>T (p.Phe34=)
c.55C>T
 ClinVar dbSNP
8g.1771157T>ACA369952875CLN8c.103T>A (p.Tyr35Asn)
c.56T>A
8g.1771157T>CCA369952876CLN8c.103T>C (p.Tyr35His)
c.56T>C
8g.1771157T>GCA369952877CLN8c.103T>G (p.Tyr35Asp)
c.56T>G
8g.1771158A>CCA369952878CLN8c.104A>C (p.Tyr35Ser)
c.57A>C
8g.1771158A>GCA369952879CLN8c.104A>G (p.Tyr35Cys)
c.57A>G
8g.1771158A>TCA369952880CLN8c.104A>T (p.Tyr35Phe)
c.57A>T
8g.1771159C>ACA369952881CLN8c.105C>A (p.Tyr35Ter)
c.58C>A
8g.1771159C>GCA369952882CLN8c.105C>G (p.Tyr35Ter)
c.58C>G
 ClinVar dbSNP gnomAD v4
8g.1771159C>TCA459142871CLN8c.105C>T (p.Tyr35=)
c.58C>T
8g.1771160T>ACA369952883CLN8c.106T>A (p.Leu36Met)
c.59T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.1771160T>CCA459142872CLN8c.106T>C (p.Leu36=)
c.59T>C
8g.1771160T>GCA369952884CLN8c.106T>G (p.Leu36Val)
c.59T>G
8g.1771160T=CA1757666794CLN8c.106T= (p.Leu36=)
c.59T=
8g.1771161T>ACA369952885CLN8c.107T>A (p.Leu36Ter)
c.60T>A
8g.1771161T>CCA369952886CLN8c.107T>C (p.Leu36Ser)
c.60T>C
 gnomAD v4
8g.1771161T>GCA369952887CLN8c.107T>G (p.Leu36Trp)
c.60T>G
8g.1771162G>ACA459142873CLN8c.108G>A (p.Leu36=)
c.61G>A
8g.1771162G>CCA4599198CLN8c.108G>C (p.Leu36Phe)
c.61G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771162G=CA1757666797CLN8c.108G= (p.Leu36=)
c.61G=
8g.1771162G>TCA369952888CLN8c.108G>T (p.Leu36Phe)
c.61G>T
 dbSNP gnomAD v2 gnomAD v4
8g.1771163_1771166dupCA2580077990CLN8c.109_112dup (p.Val38GlyfsTer?)
c.62_65dup
 ClinVar
8g.1771163G>ACA4599199CLN8c.109G>A (p.Gly37Ser)
c.62G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.1771163G>CCA369952890CLN8c.109G>C (p.Gly37Arg)
c.62G>C
8g.1771163G=CA1757666804CLN8c.109G= (p.Gly37=)
c.62G=
8g.1771163G>TCA369952889CLN8c.109G>T (p.Gly37Cys)
c.62G>T
8g.1771164G>ACA369952891CLN8c.110G>A (p.Gly37Asp)
c.63G>A
8g.1771164G>CCA369952892CLN8c.110G>C (p.Gly37Ala)
c.63G>C
 dbSNP gnomAD v2 gnomAD v4
8g.1771164G=CA1757666807CLN8c.110G= (p.Gly37=)
c.63G=
8g.1771164G>TCA369952893CLN8c.110G>T (p.Gly37Val)
c.63G>T
8g.1771165C>ACA459142874CLN8c.111C>A (p.Gly37=)
c.64C>A
 ClinVar dbSNP gnomAD v4
8g.1771165C=CA1757666810CLN8c.111C= (p.Gly37=)
c.64C=
8g.1771165C>GCA459142875CLN8c.111C>G (p.Gly37=)
c.64C>G
8g.1771165C>TCA4599200CLN8c.111C>T (p.Gly37=)
c.64C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771166G>ACA4599201CLN8c.112G>A (p.Val38Ile)
c.65G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771166G>CCA369952894CLN8c.112G>C (p.Val38Leu)
c.65G>C
8g.1771166G=CA1757666818CLN8c.112G= (p.Val38=)
c.65G=
8g.1771166G>TCA4599202CLN8c.112G>T (p.Val38Phe)
c.65G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.1771167T>ACA369952895CLN8c.113T>A (p.Val38Asp)
c.66T>A
 gnomAD v4
8g.1771167T>CCA369952896CLN8c.113T>C (p.Val38Ala)
c.66T>C
8g.1771167T>GCA369952897CLN8c.113T>G (p.Val38Gly)
c.66T>G
 gnomAD v4
8g.1771168C>ACA459142876CLN8c.114C>A (p.Val38=)
c.67C>A
 ClinVar dbSNP gnomAD v4
8g.1771168C=CA1757666823CLN8c.114C= (p.Val38=)
c.67C=
8g.1771168C>GCA459142877CLN8c.114C>G (p.Val38=)
c.67C>G
 ClinVar dbSNP
8g.1771168C>TCA459142878CLN8c.114C>T (p.Val38=)
c.67C>T
8g.1771169T>ACA369952898CLN8c.115T>A (p.Phe39Ile)
c.68T>A
8g.1771169T>CCA369952899CLN8c.115T>C (p.Phe39Leu)
c.68T>C
8g.1771169T>GCA369952900CLN8c.115T>G (p.Phe39Val)
c.68T>G
8g.1771170T>ACA369952903CLN8c.116T>A (p.Phe39Tyr)
c.69T>A
8g.1771170T>CCA369952901CLN8c.116T>C (p.Phe39Ser)
c.69T>C
8g.1771170T>GCA369952902CLN8c.116T>G (p.Phe39Cys)
c.69T>G
8g.1771171T>ACA369952904CLN8c.117T>A (p.Phe39Leu)
c.70T>A
8g.1771171T>CCA4599204CLN8c.117T>C (p.Phe39=)
c.70T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.1771171T>GCA4599203CLN8c.117T>G (p.Phe39Leu)
c.70T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771171T=CA1757666830CLN8c.117T= (p.Phe39=)
c.70T=
8g.1771172G>ACA369952905CLN8c.118G>A (p.Val40Met)
c.71G>A
 dbSNP gnomAD v2 gnomAD v4
8g.1771172G>CCA369952906CLN8c.118G>C (p.Val40Leu)
c.71G>C
8g.1771172G=CA1757666833CLN8c.118G= (p.Val40=)
c.71G=
8g.1771172G>TCA369952907CLN8c.118G>T (p.Val40Leu)
c.71G>T
8g.1771173T>ACA369952908CLN8c.119T>A (p.Val40Glu)
c.72T>A
8g.1771173T>CCA369952909CLN8c.119T>C (p.Val40Ala)
c.72T>C
8g.1771173T>GCA369952910CLN8c.119T>G (p.Val40Gly)
c.72T>G
8g.1771174G>ACA459142879CLN8c.120G>A (p.Val40=)
c.73G>A
8g.1771174G>CCA459142880CLN8c.120G>C (p.Val40=)
c.73G>C
8g.1771174G>TCA459142881CLN8c.120G>T (p.Val40=)
c.73G>T
8g.1771175G>ACA369952911CLN8c.121G>A (p.Val41Ile)
c.74G>A
 dbSNP gnomAD v4
8g.1771175G>CCA369952912CLN8c.121G>C (p.Val41Leu)
c.74G>C
8g.1771175G=CA1757666835CLN8c.121G= (p.Val41=)
c.74G=
8g.1771175G>TCA369952913CLN8c.121G>T (p.Val41Phe)
c.74G>T
8g.1771176T>ACA369952914CLN8c.122T>A (p.Val41Asp)
c.75T>A
8g.1771176T>CCA369952916CLN8c.122T>C (p.Val41Ala)
c.75T>C
 gnomAD v4
8g.1771176T>GCA369952915CLN8c.122T>G (p.Val41Gly)
c.75T>G
 dbSNP
8g.1771176T=CA1757666837CLN8c.122T= (p.Val41=)
c.75T=
8g.1771177C>ACA459142882CLN8c.123C>A (p.Val41=)
c.76C>A
8g.1771177C=CA1757666839CLN8c.123C= (p.Val41=)
c.76C=
8g.1771177C>GCA459142883CLN8c.123C>G (p.Val41=)
c.76C>G
 ClinVar
8g.1771177C>TCA459142884CLN8c.123C>T (p.Val41=)
c.76C>T
 ClinVar dbSNP
8g.1771178T>ACA369952917CLN8c.124T>A (p.Cys42Ser)
c.77T>A
8g.1771178T>CCA369952919CLN8c.124T>C (p.Cys42Arg)
c.77T>C
8g.1771178T>GCA369952918CLN8c.124T>G (p.Cys42Gly)
c.77T>G
8g.1771179G>ACA369952920CLN8c.125G>A (p.Cys42Tyr)
c.78G>A
 gnomAD v4
8g.1771179G>CCA369952921CLN8c.125G>C (p.Cys42Ser)
c.78G>C
8g.1771179G>TCA369952922CLN8c.125G>T (p.Cys42Phe)
c.78G>T
8g.1771180C>ACA369952923CLN8c.126C>A (p.Cys42Ter)
c.79C>A
 ClinVar dbSNP gnomAD v4
8g.1771180C=CA1757666842CLN8c.126C= (p.Cys42=)
c.79C=
8g.1771180C>GCA369952924CLN8c.126C>G (p.Cys42Trp)
c.79C>G
8g.1771180C>TCA4599205CLN8c.126C>T (p.Cys42=)
c.79C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771181C>ACA369952925CLN8c.127C>A (p.His43Asn)
c.80C>A
8g.1771181C=CA1757666846CLN8c.127C= (p.His43=)
c.80C=
8g.1771181C>GCA369952926CLN8c.127C>G (p.His43Asp)
c.80C>G
8g.1771181C>TCA4599206CLN8c.127C>T (p.His43Tyr)
c.80C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771182A>CCA369952927CLN8c.128A>C (p.His43Pro)
c.81A>C
8g.1771182A>GCA369952928CLN8c.128A>G (p.His43Arg)
c.81A>G
8g.1771182A>TCA369952929CLN8c.128A>T (p.His43Leu)
c.81A>T
8g.1771183C>ACA369952931CLN8c.129C>A (p.His43Gln)
c.82C>A
8g.1771183C=CA1757666849CLN8c.129C= (p.His43=)
c.82C=
8g.1771183C>GCA369952930CLN8c.129C>G (p.His43Gln)
c.82C>G
 dbSNP
8g.1771183C>TCA459142885CLN8c.129C>T (p.His43=)
c.82C>T
8g.1771184C>ACA369952932CLN8c.130C>A (p.Gln44Lys)
c.83C>A
8g.1771184C>GCA369952933CLN8c.130C>G (p.Gln44Glu)
c.83C>G
8g.1771184C>TCA369952934CLN8c.130C>T (p.Gln44Ter)
c.83C>T
 ClinVar dbSNP
8g.1771185A=CA1757666852CLN8c.131A= (p.Gln44=)
c.84A=
8g.1771185A>CCA369952935CLN8c.131A>C (p.Gln44Pro)
c.84A>C
8g.1771185A>GCA4599207CLN8c.131A>G (p.Gln44Arg)
c.84A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.1771185A>TCA369952936CLN8c.131A>T (p.Gln44Leu)
c.84A>T
8g.1771186G>ACA459142886CLN8c.132G>A (p.Gln44=)
c.85G>A
8g.1771186G>CCA369952937CLN8c.132G>C (p.Gln44His)
c.85G>C
8g.1771186G>TCA369952938CLN8c.132G>T (p.Gln44His)
c.85G>T
8g.1771187C>ACA369952939CLN8c.133C>A (p.Leu45Met)
c.86C>A
8g.1771187C=CA1757666855CLN8c.133C= (p.Leu45=)
c.86C=
8g.1771187C>GCA369952940CLN8c.133C>G (p.Leu45Val)
c.86C>G
 dbSNP
8g.1771187C>TCA459142887CLN8c.133C>T (p.Leu45=)
c.86C>T
8g.1771188T>ACA369952941CLN8c.134T>A (p.Leu45Gln)
c.87T>A
8g.1771188T>CCA369952942CLN8c.134T>C (p.Leu45Pro)
c.87T>C
 gnomAD v4
8g.1771188T>GCA369952943CLN8c.134T>G (p.Leu45Arg)
c.87T>G
8g.1771189G>ACA4599208CLN8c.135G>A (p.Leu45=)
c.88G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.1771189G>CCA4599209CLN8c.135G>C (p.Leu45=)
c.88G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.1771189G=CA1757666857CLN8c.135G= (p.Leu45=)
c.88G=
8g.1771189G>TCA459142888CLN8c.135G>T (p.Leu45=)
c.88G>T
8g.1771190T>ACA369952944CLN8c.136T>A (p.Ser46Thr)
c.89T>A
8g.1771190T>CCA369952945CLN8c.136T>C (p.Ser46Pro)
c.89T>C
8g.1771190T>GCA369952946CLN8c.136T>G (p.Ser46Ala)
c.89T>G
8g.1771191C>ACA369952947CLN8c.137C>A (p.Ser46Tyr)
c.90C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.1771191C=CA1757666860CLN8c.137C= (p.Ser46=)
c.90C=
8g.1771191C>GCA369952948CLN8c.137C>G (p.Ser46Cys)
c.90C>G
8g.1771191C>TCA369952949CLN8c.137C>T (p.Ser46Phe)
c.90C>T
8g.1771192C>ACA459142889CLN8c.138C>A (p.Ser46=)
c.91C>A
8g.1771192C=CA1757666863CLN8c.138C= (p.Ser46=)
c.91C=
8g.1771192C>GCA459142890CLN8c.138C>G (p.Ser46=)
c.91C>G
8g.1771192C>TCA4599210CLN8c.138C>T (p.Ser46=)
c.91C>T
 dbSNP ExAC gnomAD v4
8g.1771193T>ACA369952950CLN8c.139T>A (p.Ser47Thr)
c.92T>A
8g.1771193T>CCA369952951CLN8c.139T>C (p.Ser47Pro)
c.92T>C
8g.1771193T>GCA369952952CLN8c.139T>G (p.Ser47Ala)
c.92T>G
8g.1771194C>ACA369952953CLN8c.140C>A (p.Ser47Tyr)
c.93C>A
8g.1771194C=CA1757666869CLN8c.140C= (p.Ser47=)
c.93C=
8g.1771194C>GCA369952954CLN8c.140C>G (p.Ser47Cys)
c.93C>G
 gnomAD v4
8g.1771194C>TCA4599211CLN8c.140C>T (p.Ser47Phe)
c.93C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771195T>ACA459142891CLN8c.141T>A (p.Ser47=)
c.94T>A
8g.1771195T>CCA459142892CLN8c.141T>C (p.Ser47=)
c.94T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.1771195T>GCA459142893CLN8c.141T>G (p.Ser47=)
c.94T>G
8g.1771195T=CA1757666871CLN8c.141T= (p.Ser47=)
c.94T=
8g.1771196T>ACA369952957CLN8c.142T>A (p.Ser48Thr)
c.95T>A
8g.1771196T>CCA369952955CLN8c.142T>C (p.Ser48Pro)
c.95T>C
8g.1771196T>GCA369952956CLN8c.142T>G (p.Ser48Ala)
c.95T>G
8g.1771197C>ACA369952958CLN8c.143C>A (p.Ser48Tyr)
c.96C>A
8g.1771197C>GCA369952959CLN8c.143C>G (p.Ser48Cys)
c.96C>G
 gnomAD v4
8g.1771197C>TCA369952960CLN8c.143C>T (p.Ser48Phe)
c.96C>T
8g.1771198C>ACA459142939CLN8c.144C>A (p.Ser48=)
c.97C>A
 ClinVar dbSNP
8g.1771198C>GCA459142940CLN8c.144C>G (p.Ser48=)
c.97C>G
8g.1771198C>TCA459142941CLN8c.144C>T (p.Ser48=)
c.97C>T
8g.1771199C>ACA369952961CLN8c.145C>A (p.Leu49Met)
c.98C>A
8g.1771199C>GCA369952962CLN8c.145C>G (p.Leu49Val)
c.98C>G
8g.1771199C>TCA459142942CLN8c.145C>T (p.Leu49=)
c.98C>T
 ClinVar gnomAD v4
8g.1771200T>ACA369952963CLN8c.146T>A (p.Leu49Gln)
c.99T>A
8g.1771200T>CCA369952964CLN8c.146T>C (p.Leu49Pro)
c.99T>C
8g.1771200T>GCA369952965CLN8c.146T>G (p.Leu49Arg)
c.99T>G
8g.1771201G>ACA4599212CLN8c.147G>A (p.Leu49=)
c.100G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771201G>CCA459142944CLN8c.147G>C (p.Leu49=)
c.100G>C
 gnomAD v4
8g.1771201G=CA1757666874CLN8c.147G= (p.Leu49=)
c.100G=
8g.1771201G>TCA459142946CLN8c.147G>T (p.Leu49=)
c.100G>T
8g.1771202A>CCA369952966CLN8c.148A>C (p.Asn50His)
c.101A>C
8g.1771202A>GCA369952967CLN8c.148A>G (p.Asn50Asp)
c.101A>G
8g.1771202A>TCA369952968CLN8c.148A>T (p.Asn50Tyr)
c.101A>T
8g.1771203A=CA1757666876CLN8c.149A= (p.Asn50=)
c.102A=
8g.1771203A>CCA369952969CLN8c.149A>C (p.Asn50Thr)
c.102A>C
8g.1771203A>GCA4599213CLN8c.149A>G (p.Asn50Ser)
c.102A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.1771203A>TCA369952970CLN8c.149A>T (p.Asn50Ile)
c.102A>T
8g.1771204T>ACA369952971CLN8c.150T>A (p.Asn50Lys)
c.103T>A
8g.1771204T>CCA459142948CLN8c.150T>C (p.Asn50=)
c.103T>C
8g.1771204T>GCA369952972CLN8c.150T>G (p.Asn50Lys)
c.103T>G
8g.1771205G>ACA4599214CLN8c.151G>A (p.Ala51Thr)
c.104G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771205G>CCA369952973CLN8c.151G>C (p.Ala51Pro)
c.104G>C
8g.1771205G=CA1757666879CLN8c.151G= (p.Ala51=)
c.104G=
8g.1771205G>TCA369952974CLN8c.151G>T (p.Ala51Ser)
c.104G>T
8g.1771206C>ACA369952975CLN8c.152C>A (p.Ala51Asp)
c.105C>A
8g.1771206C=CA1757666883CLN8c.152C= (p.Ala51=)
c.105C=
8g.1771206C>GCA369952976CLN8c.152C>G (p.Ala51Gly)
c.105C>G
 dbSNP gnomAD v2 gnomAD v4
8g.1771206C>TCA170445667CLN8c.152C>T (p.Ala51Val)
c.105C>T
 dbSNP
8g.1771207C>ACA459142955CLN8c.153C>A (p.Ala51=)
c.106C>A
8g.1771207C>GCA459142958CLN8c.153C>G (p.Ala51=)
c.106C>G
 ClinVar
8g.1771207C>TCA459142957CLN8c.153C>T (p.Ala51=)
c.106C>T
8g.1771208A=CA1757666885CLN8c.154A= (p.Thr52=)
c.107A=
8g.1771208A>CCA369952977CLN8c.154A>C (p.Thr52Pro)
c.107A>C
8g.1771208A>GCA4599215CLN8c.154A>G (p.Thr52Ala)
c.107A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771208A>TCA369952978CLN8c.154A>T (p.Thr52Ser)
c.107A>T
8g.1771209C>ACA369952979CLN8c.155C>A (p.Thr52Asn)
c.108C>A
8g.1771209C>GCA369952980CLN8c.155C>G (p.Thr52Ser)
c.108C>G
8g.1771209C>TCA369952981CLN8c.155C>T (p.Thr52Ile)
c.108C>T
 gnomAD v4
8g.1771210_1771214delCA2685938947CLN8c.156_160del (p.Tyr53PhefsTer?)
c.109_113del
 gnomAD v4
8g.1771210T>ACA459142962CLN8c.156T>A (p.Thr52=)
c.109T>A
8g.1771210T>CCA459142963CLN8c.156T>C (p.Thr52=)
c.109T>C
8g.1771210T>GCA459142964CLN8c.156T>G (p.Thr52=)
c.109T>G
8g.1771211T>ACA369952983CLN8c.157T>A (p.Tyr53Asn)
c.110T>A
8g.1771211T>CCA4599216CLN8c.157T>C (p.Tyr53His)
c.110T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.1771211T>GCA369952982CLN8c.157T>G (p.Tyr53Asp)
c.110T>G
8g.1771211T=CA1757666889CLN8c.157T= (p.Tyr53=)
c.110T=
8g.1771212A>CCA369952984CLN8c.158A>C (p.Tyr53Ser)
c.111A>C
8g.1771212A>GCA369952985CLN8c.158A>G (p.Tyr53Cys)
c.111A>G
8g.1771212A>TCA369952986CLN8c.158A>T (p.Tyr53Phe)
c.111A>T
8g.1771213C>ACA4599218CLN8c.159C>A (p.Tyr53Ter)
c.112C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771213C=CA1757666892CLN8c.159C= (p.Tyr53=)
c.112C=
8g.1771213C>GCA369952987CLN8c.159C>G (p.Tyr53Ter)
c.112C>G
 dbSNP gnomAD v2 gnomAD v4
8g.1771213C>TCA4599217CLN8c.159C>T (p.Tyr53=)
c.112C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771214delCA2697549727CLN8c.160del (p.Arg54ValfsTer?)
c.113del
 ClinVar
8g.1771214C>ACA369952988CLN8c.160C>A (p.Arg54Ser)
c.113C>A
 ClinVar
8g.1771214C=CA1757666900CLN8c.160C= (p.Arg54=)
c.113C=
8g.1771214C>GCA369952989CLN8c.160C>G (p.Arg54Gly)
c.113C>G
8g.1771214C>TCA4599219CLN8c.160C>T (p.Arg54Cys)
c.113C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771215G>ACA4599220CLN8c.161G>A (p.Arg54His)
c.114G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.1771215G>CCA369952990CLN8c.161G>C (p.Arg54Pro)
c.114G>C
8g.1771215G=CA1757666906CLN8c.161G= (p.Arg54=)
c.114G=
8g.1771215G>TCA369952991CLN8c.161G>T (p.Arg54Leu)
c.114G>T
 dbSNP
8g.1771216T>ACA459142977CLN8c.162T>A (p.Arg54=)
c.115T>A
8g.1771216T>CCA459142978CLN8c.162T>C (p.Arg54=)
c.115T>C
 gnomAD v4
8g.1771216T>GCA459142979CLN8c.162T>G (p.Arg54=)
c.115T>G
8g.1771217T>ACA369952994CLN8c.163T>A (p.Ser55Thr)
c.116T>A
8g.1771217T>CCA369952993CLN8c.163T>C (p.Ser55Pro)
c.116T>C
8g.1771217T>GCA369952992CLN8c.163T>G (p.Ser55Ala)
c.116T>G
 ClinVar dbSNP
8g.1771217T=CA1757666908CLN8c.163T= (p.Ser55=)
c.116T=
8g.1771218C>ACA369952997CLN8c.164C>A (p.Ser55Tyr)
c.117C>A
 gnomAD v4
8g.1771218C=CA1757666909CLN8c.164C= (p.Ser55=)
c.117C=
8g.1771218C>GCA369952995CLN8c.164C>G (p.Ser55Cys)
c.117C>G
8g.1771218C>TCA369952996CLN8c.164C>T (p.Ser55Phe)
c.117C>T
 dbSNP gnomAD v2
8g.1771219T>ACA459142986CLN8c.165T>A (p.Ser55=)
c.118T>A
8g.1771219T>CCA459142987CLN8c.165T>C (p.Ser55=)
c.118T>C
8g.1771219T>GCA459142988CLN8c.165T>G (p.Ser55=)
c.118T>G
8g.1771220T>ACA369952998CLN8c.166T>A (p.Leu56Met)
c.119T>A
8g.1771220T>CCA459142989CLN8c.166T>C (p.Leu56=)
c.119T>C
 gnomAD v4
8g.1771220T>GCA369952999CLN8c.166T>G (p.Leu56Val)
c.119T>G
8g.1771221T>ACA369953000CLN8c.167T>A (p.Leu56Ter)
c.120T>A
8g.1771221T>CCA369953001CLN8c.167T>C (p.Leu56Ser)
c.120T>C
8g.1771221T>GCA369953002CLN8c.167T>G (p.Leu56Trp)
c.120T>G
8g.1771222G>ACA459142993CLN8c.168G>A (p.Leu56=)
c.121G>A
8g.1771222G>CCA369953003CLN8c.168G>C (p.Leu56Phe)
c.121G>C
8g.1771222G>TCA369953004CLN8c.168G>T (p.Leu56Phe)
c.121G>T
8g.1771223G>ACA369953005CLN8c.169G>A (p.Val57Met)
c.122G>A
8g.1771223G>CCA369953006CLN8c.169G>C (p.Val57Leu)
c.122G>C
8g.1771223G>TCA369953007CLN8c.169G>T (p.Val57Leu)
c.122G>T
8g.1771224T>ACA369953009CLN8c.170T>A (p.Val57Glu)
c.123T>A
8g.1771224T>CCA369953010CLN8c.170T>C (p.Val57Ala)
c.123T>C
8g.1771224T>GCA369953008CLN8c.170T>G (p.Val57Gly)
c.123T>G
8g.1771225G>ACA459142996CLN8c.171G>A (p.Val57=)
c.124G>A
8g.1771225G>CCA459142997CLN8c.171G>C (p.Val57=)
c.124G>C
8g.1771225G>TCA459142999CLN8c.171G>T (p.Val57=)
c.124G>T
8g.1771226G>ACA369953011CLN8c.172G>A (p.Ala58Thr)
c.125G>A
 dbSNP gnomAD v2 gnomAD v4
8g.1771226G>CCA369953012CLN8c.172G>C (p.Ala58Pro)
c.125G>C
 gnomAD v4
8g.1771226G=CA1757666912CLN8c.172G= (p.Ala58=)
c.125G=
8g.1771226G>TCA369953013CLN8c.172G>T (p.Ala58Ser)
c.125G>T
8g.1771227C>ACA369953014CLN8c.173C>A (p.Ala58Asp)
c.126C>A
 dbSNP gnomAD v2 gnomAD v4
8g.1771227C=CA1757666915CLN8c.173C= (p.Ala58=)
c.126C=
8g.1771227C>GCA369953015CLN8c.173C>G (p.Ala58Gly)
c.126C>G
8g.1771227C>TCA369953016CLN8c.173C>T (p.Ala58Val)
c.126C>T
8g.1771228C>ACA459143003CLN8c.174C>A (p.Ala58=)
c.127C>A
8g.1771228C=CA1757666918CLN8c.174C= (p.Ala58=)
c.127C=
8g.1771228C>GCA459143004CLN8c.174C>G (p.Ala58=)
c.127C>G
 gnomAD v4
8g.1771228C>TCA170445676CLN8c.174C>T (p.Ala58=)
c.127C>T
 ClinVar dbSNP gnomAD v4
8g.1771229A>CCA459143006CLN8c.175A>C (p.Arg59=)
c.128A>C
8g.1771229A>GCA369953017CLN8c.175A>G (p.Arg59Gly)
c.128A>G
8g.1771229A>TCA369953018CLN8c.175A>T (p.Arg59Ter)
c.128A>T

Number of alleles fetched