Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.120650707_120650776delCA2667172155HGDc.434+3_434+72del
c.311+3_311+72del
c.65+3_65+72del
c.11+3_11+72del
 gnomAD v4
3g.120650738_120650795delinsGATGGGCATGTCCTTCCCTAGAACTGAGCCACTTACCTGTTCTCCATGGAGGTATTGCCA1397098521HGDc.413_434+36delinsGCAATACCTCCATGGAGAACAGGTAAGTGGCTCAGTTCTAGGGAAGGACATGCCCATC
c.290_311+36delinsGCAATACCTCCATGGAGAACAGGTAAGTGGCTCAGTTCTAGGGAAGGACATGCCCATC
c.44_65+36delinsGCAATACCTCCATGGAGAACAGGTAAGTGGCTCAGTTCTAGGGAAGGACATGCCCATC
c.-11_11+36delinsGCAATACCTCCATGGAGAACAGGTAAGTGGCTCAGTTCTAGGGAAGGACATGCCCATC
3g.120650740_120650796delCA545609526HGDc.413_434+35del
c.290_311+35del
c.44_65+35del
c.-11_11+35del
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.120650765G>ACA2560214HGDc.434+9C>T (n.434+9C>T)
c.311+9C>T (n.311+9C>T)
c.65+9C>T (n.65+9C>T)
c.11+9C>T (n.11+9C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.120650765G=CA1397098541HGDc.434+9C= (n.434+9C=)
c.311+9C= (n.311+9C=)
c.65+9C= (n.65+9C=)
c.11+9C= (n.11+9C=)
3g.120650765G>TCA1397098540HGDc.434+9C>A (n.434+9C>A)
c.311+9C>A (n.311+9C>A)
c.65+9C>A (n.65+9C>A)
c.11+9C>A (n.11+9C>A)
 dbSNP gnomAD v4
3g.120650766C>ACA2560215HGDc.434+8G>T (n.434+8G>T)
c.311+8G>T (n.311+8G>T)
c.65+8G>T (n.65+8G>T)
c.11+8G>T (n.11+8G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120650766C=CA1397098542HGDc.434+8G= (n.434+8G=)
c.311+8G= (n.311+8G=)
c.65+8G= (n.65+8G=)
c.11+8G= (n.11+8G=)
3g.120650772A>CCA354077960HGDc.434+2T>G (n.434+2T>G)
c.311+2T>G (n.311+2T>G)
c.65+2T>G (n.65+2T>G)
c.11+2T>G (n.11+2T>G)
3g.120650772A>GCA354077961HGDc.434+2T>C (n.434+2T>C)
c.311+2T>C (n.311+2T>C)
c.65+2T>C (n.65+2T>C)
c.11+2T>C (n.11+2T>C)
3g.120650772A>TCA354077962HGDc.434+2T>A (n.434+2T>A)
c.311+2T>A (n.311+2T>A)
c.65+2T>A (n.65+2T>A)
c.11+2T>A (n.11+2T>A)
3g.120650773C>ACA354077965HGDc.434+1G>T (n.434+1G>T)
c.311+1G>T (n.311+1G>T)
c.65+1G>T (n.65+1G>T)
c.11+1G>T (n.11+1G>T)
3g.120650773C>GCA354077964HGDc.434+1G>C (n.434+1G>C)
c.311+1G>C (n.311+1G>C)
c.65+1G>C (n.65+1G>C)
c.11+1G>C (n.11+1G>C)
3g.120650773C>TCA354077963HGDc.434+1G>A (n.434+1G>A)
c.311+1G>A (n.311+1G>A)
c.65+1G>A (n.65+1G>A)
c.11+1G>A (n.11+1G>A)
 gnomAD v4
3g.120650774delCA2580068607HGDc.434+1del
c.311+1del
c.65+1del
c.11+1del
 ClinVar
3g.120650774C>ACA354077966HGDc.434G>T (p.Arg145Ile)
c.311G>T (p.Arg104Ile)
c.65G>T (p.Arg22Ile)
c.11G>T (p.Arg4Ile)
3g.120650774C>GCA354077967HGDc.434G>C (p.Arg145Thr)
c.311G>C (p.Arg104Thr)
c.65G>C (p.Arg22Thr)
c.11G>C (p.Arg4Thr)
3g.120650774C>TCA354077968HGDc.434G>A (p.Arg145Lys)
c.311G>A (p.Arg104Lys)
c.65G>A (p.Arg22Lys)
c.11G>A (p.Arg4Lys)
 gnomAD v4
3g.120650775T>ACA354077969HGDc.433A>T (p.Arg145Ter)
c.310A>T (p.Arg104Ter)
c.64A>T (p.Arg22Ter)
c.10A>T (p.Arg4Ter)
 ClinVar
3g.120650775T>CCA354077970HGDc.433A>G (p.Arg145Gly)
c.310A>G (p.Arg104Gly)
c.64A>G (p.Arg22Gly)
c.10A>G (p.Arg4Gly)
3g.120650775T>GCA435228330HGDc.433A>C (p.Arg145=)
c.310A>C (p.Arg104=)
c.64A>C (p.Arg22=)
c.10A>C (p.Arg4=)
3g.120650776G>ACA435228331HGDc.432C>T (p.Asn144=)
c.309C>T (p.Asn103=)
c.63C>T (p.Asn21=)
c.9C>T (p.Asn3=)
3g.120650776G>CCA354077971HGDc.432C>G (p.Asn144Lys)
c.309C>G (p.Asn103Lys)
c.63C>G (p.Asn21Lys)
c.9C>G (p.Asn3Lys)
3g.120650776G>TCA354077972HGDc.432C>A (p.Asn144Lys)
c.309C>A (p.Asn103Lys)
c.63C>A (p.Asn21Lys)
c.9C>A (p.Asn3Lys)
3g.120650777T>ACA354077973HGDc.431A>T (p.Asn144Ile)
c.308A>T (p.Asn103Ile)
c.62A>T (p.Asn21Ile)
c.8A>T (p.Asn3Ile)
3g.120650777T>CCA354077974HGDc.431A>G (p.Asn144Ser)
c.308A>G (p.Asn103Ser)
c.62A>G (p.Asn21Ser)
c.8A>G (p.Asn3Ser)
3g.120650777T>GCA354077975HGDc.431A>C (p.Asn144Thr)
c.308A>C (p.Asn103Thr)
c.62A>C (p.Asn21Thr)
c.8A>C (p.Asn3Thr)
3g.120650778T>ACA354077976HGDc.430A>T (p.Asn144Tyr)
c.307A>T (p.Asn103Tyr)
c.61A>T (p.Asn21Tyr)
c.7A>T (p.Asn3Tyr)
3g.120650778T>CCA354077977HGDc.430A>G (p.Asn144Asp)
c.307A>G (p.Asn103Asp)
c.61A>G (p.Asn21Asp)
c.7A>G (p.Asn3Asp)
3g.120650778T>GCA354077978HGDc.430A>C (p.Asn144His)
c.307A>C (p.Asn103His)
c.61A>C (p.Asn21His)
c.7A>C (p.Asn3His)
3g.120650779C>ACA354077979HGDc.429G>T (p.Glu143Asp)
c.306G>T (p.Glu102Asp)
c.60G>T (p.Glu20Asp)
c.6G>T (p.Glu2Asp)
3g.120650779C>GCA354077980HGDc.429G>C (p.Glu143Asp)
c.306G>C (p.Glu102Asp)
c.60G>C (p.Glu20Asp)
c.6G>C (p.Glu2Asp)
3g.120650779C>TCA435228332HGDc.429G>A (p.Glu143=)
c.306G>A (p.Glu102=)
c.60G>A (p.Glu20=)
c.6G>A (p.Glu2=)
 gnomAD v4
3g.120650780T>ACA354077981HGDc.428A>T (p.Glu143Val)
c.305A>T (p.Glu102Val)
c.59A>T (p.Glu20Val)
c.5A>T (p.Glu2Val)
3g.120650780T>CCA354077983HGDc.428A>G (p.Glu143Gly)
c.305A>G (p.Glu102Gly)
c.59A>G (p.Glu20Gly)
c.5A>G (p.Glu2Gly)
3g.120650780T>GCA354077982HGDc.428A>C (p.Glu143Ala)
c.305A>C (p.Glu102Ala)
c.59A>C (p.Glu20Ala)
c.5A>C (p.Glu2Ala)
3g.120650781C>ACA354077984HGDc.427G>T (p.Glu143Ter)
c.304G>T (p.Glu102Ter)
c.58G>T (p.Glu20Ter)
c.4G>T (p.Glu2Ter)
3g.120650781C>GCA354077985HGDc.427G>C (p.Glu143Gln)
c.304G>C (p.Glu102Gln)
c.58G>C (p.Glu20Gln)
c.4G>C (p.Glu2Gln)
3g.120650781C>TCA354077986HGDc.427G>A (p.Glu143Lys)
c.304G>A (p.Glu102Lys)
c.58G>A (p.Glu20Lys)
c.4G>A (p.Glu2Lys)
3g.120650782C>ACA354077987HGDc.426G>T (p.Met142Ile)
c.303G>T (p.Met101Ile)
c.57G>T (p.Met19Ile)
c.3G>T (p.Met1Ile)
3g.120650782C>GCA354077988HGDc.426G>C (p.Met142Ile)
c.303G>C (p.Met101Ile)
c.57G>C (p.Met19Ile)
c.3G>C (p.Met1Ile)
3g.120650782C>TCA354077989HGDc.426G>A (p.Met142Ile)
c.303G>A (p.Met101Ile)
c.57G>A (p.Met19Ile)
c.3G>A (p.Met1Ile)
3g.120650783A=CA1397098543HGDc.425T= (p.Met142=)
c.302T= (p.Met101=)
c.56T= (p.Met19=)
c.2T= (p.Met1=)
3g.120650783A>CCA354077990HGDc.425T>G (p.Met142Arg)
c.302T>G (p.Met101Arg)
c.56T>G (p.Met19Arg)
c.2T>G (p.Met1Arg)
3g.120650783A>GCA2560216HGDc.425T>C (p.Met142Thr)
c.302T>C (p.Met101Thr)
c.56T>C (p.Met19Thr)
c.2T>C (p.Met1Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.120650783A>TCA354077991HGDc.425T>A (p.Met142Lys)
c.302T>A (p.Met101Lys)
c.56T>A (p.Met19Lys)
c.2T>A (p.Met1Lys)
3g.120650784T>ACA354077992HGDc.424A>T (p.Met142Leu)
c.301A>T (p.Met101Leu)
c.55A>T (p.Met19Leu)
c.1A>T (p.Met1Leu)
3g.120650784T>CCA354077993HGDc.424A>G (p.Met142Val)
c.301A>G (p.Met101Val)
c.55A>G (p.Met19Val)
c.1A>G (p.Met1Val)
 gnomAD v4
3g.120650784T>GCA354077994HGDc.424A>C (p.Met142Leu)
c.301A>C (p.Met101Leu)
c.55A>C (p.Met19Leu)
c.1A>C (p.Met1Leu)
3g.120650785G>ACA435228333HGDc.423C>T (p.Ser141=)
c.300C>T (p.Ser100=)
c.54C>T (p.Ser18=)
c.-1C>T (n.-1C>T)
3g.120650785G>CCA435228334HGDc.423C>G (p.Ser141=)
c.300C>G (p.Ser100=)
c.54C>G (p.Ser18=)
c.-1C>G (n.-1C>G)
3g.120650785G>TCA435228335HGDc.423C>A (p.Ser141=)
c.300C>A (p.Ser100=)
c.54C>A (p.Ser18=)
c.-1C>A (n.-1C>A)
3g.120650786G>ACA354077997HGDc.422C>T (p.Ser141Phe)
c.299C>T (p.Ser100Phe)
c.53C>T (p.Ser18Phe)
c.-2C>T (n.-2C>T)
3g.120650786G>CCA354077995HGDc.422C>G (p.Ser141Cys)
c.299C>G (p.Ser100Cys)
c.53C>G (p.Ser18Cys)
c.-2C>G (n.-2C>G)
 dbSNP gnomAD v2 gnomAD v4
3g.120650786G=CA1397098544HGDc.422C= (p.Ser141=)
c.299C= (p.Ser100=)
c.53C= (p.Ser18=)
c.-2C= (n.-2C=)
3g.120650786G>TCA354077996HGDc.422C>A (p.Ser141Tyr)
c.299C>A (p.Ser100Tyr)
c.53C>A (p.Ser18Tyr)
c.-2C>A (n.-2C>A)
3g.120650787A>CCA354077998HGDc.421T>G (p.Ser141Ala)
c.298T>G (p.Ser100Ala)
c.52T>G (p.Ser18Ala)
c.-3T>G (n.-3T>G)
3g.120650787A>GCA354077999HGDc.421T>C (p.Ser141Pro)
c.298T>C (p.Ser100Pro)
c.52T>C (p.Ser18Pro)
c.-3T>C (n.-3T>C)
3g.120650787A>TCA354078000HGDc.421T>A (p.Ser141Thr)
c.298T>A (p.Ser100Thr)
c.52T>A (p.Ser18Thr)
c.-3T>A (n.-3T>A)
3g.120650788G>ACA435228337HGDc.420C>T (p.Thr140=)
c.297C>T (p.Thr99=)
n.528C>T
c.51C>T (p.Thr17=)
c.-4C>T (n.-4C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120650788G>CCA435228338HGDc.420C>G (p.Thr140=)
c.297C>G (p.Thr99=)
n.528C>G
c.51C>G (p.Thr17=)
c.-4C>G (n.-4C>G)
3g.120650788G=CA1397098545HGDc.420C= (p.Thr140=)
c.297C= (p.Thr99=)
n.528C=
c.51C= (p.Thr17=)
c.-4C= (n.-4C=)
3g.120650788G>TCA435228340HGDc.420C>A (p.Thr140=)
c.297C>A (p.Thr99=)
n.528C>A
c.51C>A (p.Thr17=)
c.-4C>A (n.-4C>A)
3g.120650789G>ACA354078001HGDc.419C>T (p.Thr140Ile)
c.296C>T (p.Thr99Ile)
n.527C>T
c.50C>T (p.Thr17Ile)
c.-5C>T (n.-5C>T)
3g.120650789G>CCA354078002HGDc.419C>G (p.Thr140Ser)
c.296C>G (p.Thr99Ser)
n.527C>G
c.50C>G (p.Thr17Ser)
c.-5C>G (n.-5C>G)
3g.120650789G=CA1397098546HGDc.419C= (p.Thr140=)
c.296C= (p.Thr99=)
n.527C=
c.50C= (p.Thr17=)
c.-5C= (n.-5C=)
3g.120650789G>TCA354078003HGDc.419C>A (p.Thr140Asn)
c.296C>A (p.Thr99Asn)
n.527C>A
c.50C>A (p.Thr17Asn)
c.-5C>A (n.-5C>A)
 dbSNP gnomAD v2
3g.120650790T>ACA354078004HGDc.418A>T (p.Thr140Ser)
c.295A>T (p.Thr99Ser)
n.526A>T
c.49A>T (p.Thr17Ser)
c.-6A>T (n.-6A>T)
3g.120650790T>CCA354078005HGDc.418A>G (p.Thr140Ala)
c.295A>G (p.Thr99Ala)
n.526A>G
c.49A>G (p.Thr17Ala)
c.-6A>G (n.-6A>G)
 COSMIC
3g.120650790T>GCA354078006HGDc.418A>C (p.Thr140Pro)
c.295A>C (p.Thr99Pro)
n.526A>C
c.49A>C (p.Thr17Pro)
c.-6A>C (n.-6A>C)
3g.120650791A>CCA354078007HGDc.417T>G (p.Asn139Lys)
c.294T>G (p.Asn98Lys)
n.525T>G
c.48T>G (p.Asn16Lys)
c.-7T>G (n.-7T>G)
3g.120650791A>GCA435228343HGDc.417T>C (p.Asn139=)
c.294T>C (p.Asn98=)
n.525T>C
c.48T>C (p.Asn16=)
c.-7T>C (n.-7T>C)
3g.120650791A>TCA354078008HGDc.417T>A (p.Asn139Lys)
c.294T>A (p.Asn98Lys)
n.525T>A
c.48T>A (p.Asn16Lys)
c.-7T>A (n.-7T>A)
3g.120650792T>ACA354078010HGDc.416A>T (p.Asn139Ile)
c.293A>T (p.Asn98Ile)
n.524A>T
c.47A>T (p.Asn16Ile)
c.-8A>T (n.-8A>T)
3g.120650792T>CCA81789586HGDc.416A>G (p.Asn139Ser)
c.293A>G (p.Asn98Ser)
n.524A>G
c.47A>G (p.Asn16Ser)
c.-8A>G (n.-8A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120650792T>GCA354078009HGDc.416A>C (p.Asn139Thr)
c.293A>C (p.Asn98Thr)
n.524A>C
c.47A>C (p.Asn16Thr)
c.-8A>C (n.-8A>C)
3g.120650792T=CA1397098547HGDc.416A= (p.Asn139=)
c.293A= (p.Asn98=)
n.524A=
c.47A= (p.Asn16=)
c.-8A= (n.-8A=)
3g.120650793T>ACA354078011HGDc.415A>T (p.Asn139Tyr)
c.292A>T (p.Asn98Tyr)
n.523A>T
c.46A>T (p.Asn16Tyr)
c.-9A>T (n.-9A>T)
3g.120650793T>CCA354078012HGDc.415A>G (p.Asn139Asp)
c.292A>G (p.Asn98Asp)
n.523A>G
c.46A>G (p.Asn16Asp)
c.-9A>G (n.-9A>G)
 dbSNP gnomAD v3 gnomAD v4
3g.120650793T>GCA354078013HGDc.415A>C (p.Asn139His)
c.292A>C (p.Asn98His)
n.523A>C
c.46A>C (p.Asn16His)
c.-9A>C (n.-9A>C)
3g.120650793T=CA1397098548HGDc.415A= (p.Asn139=)
c.292A= (p.Asn98=)
n.523A=
c.46A= (p.Asn16=)
c.-9A= (n.-9A=)
3g.120650794G>ACA435228346HGDc.414C>T (p.Cys138=)
c.291C>T (p.Cys97=)
n.522C>T
c.45C>T (p.Cys15=)
c.-10C>T (n.-10C>T)
 dbSNP gnomAD v4
3g.120650794G>CCA354078014HGDc.414C>G (p.Cys138Trp)
c.291C>G (p.Cys97Trp)
n.522C>G
c.45C>G (p.Cys15Trp)
c.-10C>G (n.-10C>G)
3g.120650794G=CA1397098549HGDc.414C= (p.Cys138=)
c.291C= (p.Cys97=)
n.522C=
c.45C= (p.Cys15=)
c.-10C= (n.-10C=)
3g.120650794G>TCA354078015HGDc.414C>A (p.Cys138Ter)
c.291C>A (p.Cys97Ter)
n.522C>A
c.45C>A (p.Cys15Ter)
c.-10C>A (n.-10C>A)
3g.120650795C>ACA354078018HGDc.413G>T (p.Cys138Phe)
c.290G>T (p.Cys97Phe)
n.521G>T
c.44G>T (p.Cys15Phe)
c.-11G>T (n.-11G>T)
 gnomAD v4
3g.120650795C=CA1397098550HGDc.413G= (p.Cys138=)
c.290G= (p.Cys97=)
n.521G=
c.44G= (p.Cys15=)
c.-11G= (n.-11G=)
3g.120650795C>GCA354078017HGDc.413G>C (p.Cys138Ser)
c.290G>C (p.Cys97Ser)
n.521G>C
c.44G>C (p.Cys15Ser)
c.-11G>C (n.-11G>C)
3g.120650795C>TCA354078016HGDc.413G>A (p.Cys138Tyr)
c.290G>A (p.Cys97Tyr)
n.521G>A
c.44G>A (p.Cys15Tyr)
c.-11G>A (n.-11G>A)
 ClinVar dbSNP
3g.120650796A>CCA354078019HGDc.412T>G (p.Cys138Gly)
c.289T>G (p.Cys97Gly)
n.520T>G
c.43T>G (p.Cys15Gly)
c.-12T>G (n.-12T>G)
3g.120650796A>GCA354078020HGDc.412T>C (p.Cys138Arg)
c.289T>C (p.Cys97Arg)
n.520T>C
c.43T>C (p.Cys15Arg)
c.-12T>C (n.-12T>C)
3g.120650796A>TCA354078021HGDc.412T>A (p.Cys138Ser)
c.289T>A (p.Cys97Ser)
n.520T>A
c.43T>A (p.Cys15Ser)
c.-12T>A (n.-12T>A)
3g.120650797G>ACA435228349HGDc.411C>T (p.Leu137=)
c.288C>T (p.Leu96=)
n.519C>T
c.42C>T (p.Leu14=)
c.-13C>T (n.-13C>T)
3g.120650797G>CCA435228351HGDc.411C>G (p.Leu137=)
c.288C>G (p.Leu96=)
n.519C>G
c.42C>G (p.Leu14=)
c.-13C>G (n.-13C>G)
3g.120650797G>TCA435228353HGDc.411C>A (p.Leu137=)
c.288C>A (p.Leu96=)
n.519C>A
c.42C>A (p.Leu14=)
c.-13C>A (n.-13C>A)
3g.120650798A>CCA354078022HGDc.410T>G (p.Leu137Arg)
c.287T>G (p.Leu96Arg)
n.518T>G
c.41T>G (p.Leu14Arg)
c.-14T>G (n.-14T>G)
3g.120650798A>GCA354078023HGDc.410T>C (p.Leu137Pro)
c.287T>C (p.Leu96Pro)
n.518T>C
c.41T>C (p.Leu14Pro)
c.-14T>C (n.-14T>C)
 ClinVar
3g.120650798A>TCA354078024HGDc.410T>A (p.Leu137His)
c.287T>A (p.Leu96His)
n.518T>A
c.41T>A (p.Leu14His)
c.-14T>A (n.-14T>A)
3g.120650798_120650799delinsAGCA1397098551HGDc.409_410delinsCT (p.Leu137=)
c.286_287delinsCT (p.Leu96=)
n.517_518delinsCT
c.40_41delinsCT (p.Leu14=)
c.-15_-14delinsCT (n.-15_-14delinsCT)
3g.120650799_120650802delCA2667172202HGDc.407_410del (p.Phe136SerfsTer19)
c.284_287del (p.Phe95SerfsTer19)
n.515_518del
c.38_41del (p.Phe13SerfsTer19)
c.-17_-14del (n.-17_-14del)
 gnomAD v4
3g.120650799G>ACA354078025HGDc.409C>T (p.Leu137Phe)
c.286C>T (p.Leu96Phe)
n.517C>T
c.40C>T (p.Leu14Phe)
c.-15C>T (n.-15C>T)
3g.120650799G>CCA2560217HGDc.409C>G (p.Leu137Val)
c.286C>G (p.Leu96Val)
n.517C>G
c.40C>G (p.Leu14Val)
c.-15C>G (n.-15C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.120650799G=CA1397098552HGDc.409C= (p.Leu137=)
c.286C= (p.Leu96=)
n.517C=
c.40C= (p.Leu14=)
c.-15C= (n.-15C=)
3g.120650799G>TCA354078026HGDc.409C>A (p.Leu137Ile)
c.286C>A (p.Leu96Ile)
n.517C>A
c.40C>A (p.Leu14Ile)
c.-15C>A (n.-15C>A)
3g.120650800delCA16040891HGDc.409del (p.Leu137SerfsTer19)
c.286del (p.Leu96SerfsTer19)
n.517del
c.40del (p.Leu14SerfsTer19)
c.-15del (n.-15del)
 ClinVar dbSNP
3g.120650800G>ACA435228355HGDc.408C>T (p.Phe136=)
c.285C>T (p.Phe95=)
n.516C>T
c.39C>T (p.Phe13=)
c.-16C>T (n.-16C>T)
 gnomAD v4 COSMIC
3g.120650800G>CCA354078027HGDc.408C>G (p.Phe136Leu)
c.285C>G (p.Phe95Leu)
n.516C>G
c.39C>G (p.Phe13Leu)
c.-16C>G (n.-16C>G)
3g.120650800G>TCA354078028HGDc.408C>A (p.Phe136Leu)
c.285C>A (p.Phe95Leu)
n.516C>A
c.39C>A (p.Phe13Leu)
c.-16C>A (n.-16C>A)
 gnomAD v4
3g.120650801A>CCA354078029HGDc.407T>G (p.Phe136Cys)
c.284T>G (p.Phe95Cys)
n.515T>G
c.38T>G (p.Phe13Cys)
c.-17T>G (n.-17T>G)
 gnomAD v4
3g.120650801A>GCA354078030HGDc.407T>C (p.Phe136Ser)
c.284T>C (p.Phe95Ser)
n.515T>C
c.38T>C (p.Phe13Ser)
c.-17T>C (n.-17T>C)
3g.120650801A>TCA354078031HGDc.407T>A (p.Phe136Tyr)
c.284T>A (p.Phe95Tyr)
n.515T>A
c.38T>A (p.Phe13Tyr)
c.-17T>A (n.-17T>A)
 ClinVar
3g.120650804delCA645535944HGDc.407del (p.Phe136SerfsTer20)
c.284del (p.Phe95SerfsTer20)
n.515del
c.38del (p.Phe13SerfsTer20)
c.-17del (n.-17del)
 gnomAD v4 COSMIC
3g.120650802A>CCA354078032HGDc.406T>G (p.Phe136Val)
c.283T>G (p.Phe95Val)
n.514T>G
c.37T>G (p.Phe13Val)
c.-18T>G (n.-18T>G)
3g.120650802A>GCA354078033HGDc.406T>C (p.Phe136Leu)
c.283T>C (p.Phe95Leu)
n.514T>C
c.37T>C (p.Phe13Leu)
c.-18T>C (n.-18T>C)
3g.120650802A>TCA354078034HGDc.406T>A (p.Phe136Ile)
c.283T>A (p.Phe95Ile)
n.514T>A
c.37T>A (p.Phe13Ile)
c.-18T>A (n.-18T>A)
3g.120650803A>CCA354078035HGDc.405T>G (p.Ile135Met)
c.282T>G (p.Ile94Met)
n.513T>G
c.36T>G (p.Ile12Met)
c.-19T>G (n.-19T>G)
3g.120650803A>GCA435228358HGDc.405T>C (p.Ile135=)
c.282T>C (p.Ile94=)
n.513T>C
c.36T>C (p.Ile12=)
c.-19T>C (n.-19T>C)
3g.120650803A>TCA435228360HGDc.405T>A (p.Ile135=)
c.282T>A (p.Ile94=)
n.513T>A
c.36T>A (p.Ile12=)
c.-19T>A (n.-19T>A)
3g.120650804A>CCA354078038HGDc.404T>G (p.Ile135Ser)
c.281T>G (p.Ile94Ser)
n.512T>G
c.35T>G (p.Ile12Ser)
c.-20T>G (n.-20T>G)
3g.120650804A>GCA354078037HGDc.404T>C (p.Ile135Thr)
c.281T>C (p.Ile94Thr)
n.512T>C
c.35T>C (p.Ile12Thr)
c.-20T>C (n.-20T>C)
3g.120650804A>TCA354078036HGDc.404T>A (p.Ile135Asn)
c.281T>A (p.Ile94Asn)
n.512T>A
c.35T>A (p.Ile12Asn)
c.-20T>A (n.-20T>A)
3g.120650805T>ACA354078039HGDc.403A>T (p.Ile135Phe)
c.280A>T (p.Ile94Phe)
n.511A>T
c.34A>T (p.Ile12Phe)
c.-21A>T (n.-21A>T)
3g.120650805T>CCA354078041HGDc.403A>G (p.Ile135Val)
c.280A>G (p.Ile94Val)
n.511A>G
c.34A>G (p.Ile12Val)
c.-21A>G (n.-21A>G)
 gnomAD v4
3g.120650805T>GCA354078040HGDc.403A>C (p.Ile135Leu)
c.280A>C (p.Ile94Leu)
n.511A>C
c.34A>C (p.Ile12Leu)
c.-21A>C (n.-21A>C)
3g.120650806G>ACA435228362HGDc.402C>T (p.His134=)
c.279C>T (p.His93=)
n.510C>T
c.33C>T (p.His11=)
c.-22C>T (n.-22C>T)
 dbSNP COSMIC
3g.120650806G>CCA354078042HGDc.402C>G (p.His134Gln)
c.279C>G (p.His93Gln)
n.510C>G
c.33C>G (p.His11Gln)
c.-22C>G (n.-22C>G)
3g.120650806G=CA1397098553HGDc.402C= (p.His134=)
c.279C= (p.His93=)
n.510C=
c.33C= (p.His11=)
c.-22C= (n.-22C=)
3g.120650806G>TCA354078043HGDc.402C>A (p.His134Gln)
c.279C>A (p.His93Gln)
n.510C>A
c.33C>A (p.His11Gln)
c.-22C>A (n.-22C>A)
3g.120650807T>ACA354078044HGDc.401A>T (p.His134Leu)
c.278A>T (p.His93Leu)
n.509A>T
c.32A>T (p.His11Leu)
c.-23A>T (n.-23A>T)
3g.120650807T>CCA354078046HGDc.401A>G (p.His134Arg)
c.278A>G (p.His93Arg)
n.509A>G
c.32A>G (p.His11Arg)
c.-23A>G (n.-23A>G)
 ClinVar dbSNP gnomAD v4
3g.120650807T>GCA354078045HGDc.401A>C (p.His134Pro)
c.278A>C (p.His93Pro)
n.509A>C
c.32A>C (p.His11Pro)
c.-23A>C (n.-23A>C)
3g.120650807T=CA1397098554HGDc.401A= (p.His134=)
c.278A= (p.His93=)
n.509A=
c.32A= (p.His11=)
c.-23A= (n.-23A=)
3g.120650808G>ACA354078047HGDc.400C>T (p.His134Tyr)
c.277C>T (p.His93Tyr)
n.508C>T
c.31C>T (p.His11Tyr)
c.-24C>T (n.-24C>T)
 dbSNP COSMIC
3g.120650808G>CCA354078049HGDc.400C>G (p.His134Asp)
c.277C>G (p.His93Asp)
n.508C>G
c.31C>G (p.His11Asp)
c.-24C>G (n.-24C>G)
3g.120650808G=CA1397098555HGDc.400C= (p.His134=)
c.277C= (p.His93=)
n.508C=
c.31C= (p.His11=)
c.-24C= (n.-24C=)
3g.120650808G>TCA354078048HGDc.400C>A (p.His134Asn)
c.277C>A (p.His93Asn)
n.508C>A
c.31C>A (p.His11Asn)
c.-24C>A (n.-24C>A)
3g.120650809G>ACA435228364HGDc.399C>T (p.Ile133=)
c.276C>T (p.Ile92=)
n.507C>T
c.30C>T (p.Ile10=)
c.-25C>T (n.-25C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.120650809G>CCA354078050HGDc.399C>G (p.Ile133Met)
c.276C>G (p.Ile92Met)
n.507C>G
c.30C>G (p.Ile10Met)
c.-25C>G (n.-25C>G)
3g.120650809G=CA1397098556HGDc.399C= (p.Ile133=)
c.276C= (p.Ile92=)
n.507C=
c.30C= (p.Ile10=)
c.-25C= (n.-25C=)
3g.120650809G>TCA435228365HGDc.399C>A (p.Ile133=)
c.276C>A (p.Ile92=)
n.507C>A
c.30C>A (p.Ile10=)
c.-25C>A (n.-25C>A)
3g.120650810delCA2697556799HGDc.398del (p.Ile133ThrfsTer23)
c.275del (p.Ile92ThrfsTer23)
n.506del
c.29del (p.Ile10ThrfsTer23)
c.-26del (n.-26del)
 ClinVar
3g.120650810A>CCA354078053HGDc.398T>G (p.Ile133Ser)
c.275T>G (p.Ile92Ser)
n.506T>G
c.29T>G (p.Ile10Ser)
c.-26T>G (n.-26T>G)
3g.120650810A>GCA354078051HGDc.398T>C (p.Ile133Thr)
c.275T>C (p.Ile92Thr)
n.506T>C
c.29T>C (p.Ile10Thr)
c.-26T>C (n.-26T>C)
3g.120650810A>TCA354078052HGDc.398T>A (p.Ile133Asn)
c.275T>A (p.Ile92Asn)
n.506T>A
c.29T>A (p.Ile10Asn)
c.-26T>A (n.-26T>A)
3g.120650811T>ACA354078054HGDc.397A>T (p.Ile133Phe)
c.274A>T (p.Ile92Phe)
n.505A>T
c.28A>T (p.Ile10Phe)
c.-27A>T (n.-27A>T)
3g.120650811T>CCA2560218HGDc.397A>G (p.Ile133Val)
c.274A>G (p.Ile92Val)
n.505A>G
c.28A>G (p.Ile10Val)
c.-27A>G (n.-27A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.120650811T>GCA354078055HGDc.397A>C (p.Ile133Leu)
c.274A>C (p.Ile92Leu)
n.505A>C
c.28A>C (p.Ile10Leu)
c.-27A>C (n.-27A>C)
3g.120650811T=CA1397098557HGDc.397A= (p.Ile133=)
c.274A= (p.Ile92=)
n.505A=
c.28A= (p.Ile10=)
c.-27A= (n.-27A=)
3g.120650812A=CA1397098558HGDc.396T= (p.Ala132=)
c.273T= (p.Ala91=)
n.504T=
c.27T= (p.Ala9=)
c.-28T= (n.-28T=)
3g.120650812A>CCA435228366HGDc.396T>G (p.Ala132=)
c.273T>G (p.Ala91=)
n.504T>G
c.27T>G (p.Ala9=)
c.-28T>G (n.-28T>G)
3g.120650812A>GCA435228367HGDc.396T>C (p.Ala132=)
c.273T>C (p.Ala91=)
n.504T>C
c.27T>C (p.Ala9=)
c.-28T>C (n.-28T>C)
3g.120650812A>TCA2560219HGDc.396T>A (p.Ala132=)
c.273T>A (p.Ala91=)
n.504T>A
c.27T>A (p.Ala9=)
c.-28T>A (n.-28T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120650813G>ACA354078056HGDc.395C>T (p.Ala132Val)
c.272C>T (p.Ala91Val)
n.503C>T
c.26C>T (p.Ala9Val)
c.-29C>T (n.-29C>T)
 COSMIC
3g.120650813G>CCA354078057HGDc.395C>G (p.Ala132Gly)
c.272C>G (p.Ala91Gly)
n.503C>G
c.26C>G (p.Ala9Gly)
c.-29C>G (n.-29C>G)
3g.120650813G>TCA354078058HGDc.395C>A (p.Ala132Asp)
c.272C>A (p.Ala91Asp)
n.503C>A
c.26C>A (p.Ala9Asp)
c.-29C>A (n.-29C>A)
3g.120650814C>ACA354078059HGDc.394G>T (p.Ala132Ser)
c.271G>T (p.Ala91Ser)
n.502G>T
c.25G>T (p.Ala9Ser)
c.-30G>T (n.-30G>T)
3g.120650814C>GCA354078060HGDc.394G>C (p.Ala132Pro)
c.271G>C (p.Ala91Pro)
n.502G>C
c.25G>C (p.Ala9Pro)
c.-30G>C (n.-30G>C)
3g.120650814C>TCA354078061HGDc.394G>A (p.Ala132Thr)
c.271G>A (p.Ala91Thr)
n.502G>A
c.25G>A (p.Ala9Thr)
c.-30G>A (n.-30G>A)
3g.120650815A=CA1397098559HGDc.393T= (p.Leu131=)
c.270T= (p.Leu90=)
n.501T=
c.24T= (p.Leu8=)
c.-31T= (n.-31T=)
3g.120650815A>CCA435228370HGDc.393T>G (p.Leu131=)
c.270T>G (p.Leu90=)
n.501T>G
c.24T>G (p.Leu8=)
c.-31T>G (n.-31T>G)
3g.120650815A>GCA435228371HGDc.393T>C (p.Leu131=)
c.270T>C (p.Leu90=)
n.501T>C
c.24T>C (p.Leu8=)
c.-31T>C (n.-31T>C)
3g.120650815A>TCA435228372HGDc.393T>A (p.Leu131=)
c.270T>A (p.Leu90=)
n.501T>A
c.24T>A (p.Leu8=)
c.-31T>A (n.-31T>A)
3g.120650816A>CCA354078062HGDc.392T>G (p.Leu131Arg)
c.269T>G (p.Leu90Arg)
n.500T>G
c.23T>G (p.Leu8Arg)
c.-32T>G (n.-32T>G)
3g.120650816A>GCA354078064HGDc.392T>C (p.Leu131Pro)
c.269T>C (p.Leu90Pro)
n.500T>C
c.23T>C (p.Leu8Pro)
c.-32T>C (n.-32T>C)
3g.120650816A>TCA354078063HGDc.392T>A (p.Leu131His)
c.269T>A (p.Leu90His)
n.500T>A
c.23T>A (p.Leu8His)
c.-32T>A (n.-32T>A)
3g.120650818_120650862dupCA2560220HGDc.348_392dup (p.Leu131_Ala132insHisThrLeuCysGlyAlaGlyAspIleLysSerAsnAsnGlyLeu)
c.225_269dup (p.Leu90_Ala91insHisThrLeuCysGlyAlaGlyAspIleLysSerAsnAsnGlyLeu)
n.456_500dup
c.-76_-32dup (n.-76_-32dup)
 dbSNP ExAC gnomAD v2
3g.120650817G>ACA354078065HGDc.391C>T (p.Leu131Phe)
c.268C>T (p.Leu90Phe)
n.499C>T
c.22C>T (p.Leu8Phe)
c.-33C>T (n.-33C>T)
 gnomAD v4
3g.120650817G>CCA354078066HGDc.391C>G (p.Leu131Val)
c.268C>G (p.Leu90Val)
n.499C>G
c.22C>G (p.Leu8Val)
c.-33C>G (n.-33C>G)
3g.120650817G>TCA354078067HGDc.391C>A (p.Leu131Ile)
c.268C>A (p.Leu90Ile)
n.499C>A
c.22C>A (p.Leu8Ile)
c.-33C>A (n.-33C>A)
3g.120650817_120650818delinsGCCA1397098560HGDc.390_391delinsGC (p.Gly130=)
c.267_268delinsGC (p.Gly89=)
n.498_499delinsGC
c.21_22delinsGC (p.Gly7=)
c.-34_-33delinsGC (n.-34_-33delinsGC)
3g.120650818C>ACA2560221HGDc.390G>T (p.Gly130=)
c.267G>T (p.Gly89=)
n.498G>T
c.21G>T (p.Gly7=)
c.-34G>T (n.-34G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120650818C=CA1397098561HGDc.390G= (p.Gly130=)
c.267G= (p.Gly89=)
n.498G=
c.21G= (p.Gly7=)
c.-34G= (n.-34G=)
3g.120650818C>GCA435228374HGDc.390G>C (p.Gly130=)
c.267G>C (p.Gly89=)
n.498G>C
c.21G>C (p.Gly7=)
c.-34G>C (n.-34G>C)
 COSMIC
3g.120650818C>TCA435228375HGDc.390G>A (p.Gly130=)
c.267G>A (p.Gly89=)
n.498G>A
c.21G>A (p.Gly7=)
c.-34G>A (n.-34G>A)
3g.120650820delCA16040892HGDc.390del (p.Ala132LeufsTer24)
c.267del (p.Ala91LeufsTer24)
n.498del
c.21del (p.Ala9LeufsTer24)
c.-34del (n.-34del)
 ClinVar dbSNP
3g.120650819C>ACA354078068HGDc.389G>T (p.Gly130Val)
c.266G>T (p.Gly89Val)
n.497G>T
c.20G>T (p.Gly7Val)
c.-35G>T (n.-35G>T)
 dbSNP COSMIC
3g.120650819C=CA1397098562HGDc.389G= (p.Gly130=)
c.266G= (p.Gly89=)
n.497G=
c.20G= (p.Gly7=)
c.-35G= (n.-35G=)
3g.120650819C>GCA354078069HGDc.389G>C (p.Gly130Ala)
c.266G>C (p.Gly89Ala)
n.497G>C
c.20G>C (p.Gly7Ala)
c.-35G>C (n.-35G>C)
3g.120650819C>TCA354078070HGDc.389G>A (p.Gly130Glu)
c.266G>A (p.Gly89Glu)
n.497G>A
c.20G>A (p.Gly7Glu)
c.-35G>A (n.-35G>A)
3g.120650820C>ACA354078071HGDc.388G>T (p.Gly130Trp)
c.265G>T (p.Gly89Trp)
n.496G>T
c.19G>T (p.Gly7Trp)
c.-36G>T (n.-36G>T)
3g.120650820C>GCA354078072HGDc.388G>C (p.Gly130Arg)
c.265G>C (p.Gly89Arg)
n.496G>C
c.19G>C (p.Gly7Arg)
c.-36G>C (n.-36G>C)
3g.120650820C>TCA354078073HGDc.388G>A (p.Gly130Arg)
c.265G>A (p.Gly89Arg)
n.496G>A
c.19G>A (p.Gly7Arg)
c.-36G>A (n.-36G>A)
3g.120650821A=CA1397098563HGDc.387T= (p.Asn129=)
c.264T= (p.Asn88=)
n.495T=
c.18T= (p.Asn6=)
c.-37T= (n.-37T=)
3g.120650821A>CCA354078074HGDc.387T>G (p.Asn129Lys)
c.264T>G (p.Asn88Lys)
n.495T>G
c.18T>G (p.Asn6Lys)
c.-37T>G (n.-37T>G)
3g.120650821A>GCA435228377HGDc.387T>C (p.Asn129=)
c.264T>C (p.Asn88=)
n.495T>C
c.18T>C (p.Asn6=)
c.-37T>C (n.-37T>C)
 gnomAD v4
3g.120650821A>TCA2560222HGDc.387T>A (p.Asn129Lys)
c.264T>A (p.Asn88Lys)
n.495T>A
c.18T>A (p.Asn6Lys)
c.-37T>A (n.-37T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.120650822T>ACA354078075HGDc.386A>T (p.Asn129Ile)
c.263A>T (p.Asn88Ile)
n.494A>T
c.17A>T (p.Asn6Ile)
c.-38A>T (n.-38A>T)
3g.120650822T>CCA2560223HGDc.386A>G (p.Asn129Ser)
c.263A>G (p.Asn88Ser)
n.494A>G
c.17A>G (p.Asn6Ser)
c.-38A>G (n.-38A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120650822T>GCA354078076HGDc.386A>C (p.Asn129Thr)
c.263A>C (p.Asn88Thr)
n.494A>C
c.17A>C (p.Asn6Thr)
c.-38A>C (n.-38A>C)
3g.120650822T=CA1397098564HGDc.386A= (p.Asn129=)
c.263A= (p.Asn88=)
n.494A=
c.17A= (p.Asn6=)
c.-38A= (n.-38A=)
3g.120650823T>ACA354078077HGDc.385A>T (p.Asn129Tyr)
c.262A>T (p.Asn88Tyr)
n.493A>T
c.16A>T (p.Asn6Tyr)
c.-39A>T (n.-39A>T)
3g.120650823T>CCA354078078HGDc.385A>G (p.Asn129Asp)
c.262A>G (p.Asn88Asp)
n.493A>G
c.16A>G (p.Asn6Asp)
c.-39A>G (n.-39A>G)
3g.120650823T>GCA354078079HGDc.385A>C (p.Asn129His)
c.262A>C (p.Asn88His)
n.493A>C
c.16A>C (p.Asn6His)
c.-39A>C (n.-39A>C)
3g.120650824G>ACA435228379HGDc.384C>T (p.Asn128=)
c.261C>T (p.Asn87=)
n.492C>T
c.15C>T (p.Asn5=)
c.-40C>T (n.-40C>T)
3g.120650824G>CCA354078080HGDc.384C>G (p.Asn128Lys)
c.261C>G (p.Asn87Lys)
n.492C>G
c.15C>G (p.Asn5Lys)
c.-40C>G (n.-40C>G)
3g.120650824G=CA1397098565HGDc.384C= (p.Asn128=)
c.261C= (p.Asn87=)
n.492C=
c.15C= (p.Asn5=)
c.-40C= (n.-40C=)
3g.120650824G>TCA81789604HGDc.384C>A (p.Asn128Lys)
c.261C>A (p.Asn87Lys)
n.492C>A
c.15C>A (p.Asn5Lys)
c.-40C>A (n.-40C>A)
 dbSNP gnomAD v3 gnomAD v4
3g.120650825T>ACA354078081HGDc.383A>T (p.Asn128Ile)
c.260A>T (p.Asn87Ile)
n.491A>T
c.14A>T (p.Asn5Ile)
c.-41A>T (n.-41A>T)
3g.120650825T>CCA354078082HGDc.383A>G (p.Asn128Ser)
c.260A>G (p.Asn87Ser)
n.491A>G
c.14A>G (p.Asn5Ser)
c.-41A>G (n.-41A>G)
3g.120650825T>GCA354078083HGDc.383A>C (p.Asn128Thr)
c.260A>C (p.Asn87Thr)
n.491A>C
c.14A>C (p.Asn5Thr)
c.-41A>C (n.-41A>C)
3g.120650826T>ACA354078086HGDc.382A>T (p.Asn128Tyr)
c.259A>T (p.Asn87Tyr)
n.490A>T
c.13A>T (p.Asn5Tyr)
c.-42A>T (n.-42A>T)
3g.120650826T>CCA354078085HGDc.382A>G (p.Asn128Asp)
c.259A>G (p.Asn87Asp)
n.490A>G
c.13A>G (p.Asn5Asp)
c.-42A>G (n.-42A>G)
3g.120650826T>GCA354078084HGDc.382A>C (p.Asn128His)
c.259A>C (p.Asn87His)
n.490A>C
c.13A>C (p.Asn5His)
c.-42A>C (n.-42A>C)
3g.120650827A=CA1397098566HGDc.381T= (p.Ser127=)
c.258T= (p.Ser86=)
n.489T=
c.12T= (p.Ser4=)
c.-43T= (n.-43T=)
3g.120650827A>CCA435228381HGDc.381T>G (p.Ser127=)
c.258T>G (p.Ser86=)
n.489T>G
c.12T>G (p.Ser4=)
c.-43T>G (n.-43T>G)
3g.120650827A>GCA435228382HGDc.381T>C (p.Ser127=)
c.258T>C (p.Ser86=)
n.489T>C
c.12T>C (p.Ser4=)
c.-43T>C (n.-43T>C)
3g.120650827A>TCA81789606HGDc.381T>A (p.Ser127=)
c.258T>A (p.Ser86=)
n.489T>A
c.12T>A (p.Ser4=)
c.-43T>A (n.-43T>A)
 dbSNP gnomAD v4
3g.120650828G>ACA354078087HGDc.380C>T (p.Ser127Phe)
c.257C>T (p.Ser86Phe)
n.488C>T
c.11C>T (p.Ser4Phe)
c.-44C>T (n.-44C>T)
3g.120650828G>CCA354078088HGDc.380C>G (p.Ser127Cys)
c.257C>G (p.Ser86Cys)
n.488C>G
c.11C>G (p.Ser4Cys)
c.-44C>G (n.-44C>G)
3g.120650828G>TCA354078089HGDc.380C>A (p.Ser127Tyr)
c.257C>A (p.Ser86Tyr)
n.488C>A
c.11C>A (p.Ser4Tyr)
c.-44C>A (n.-44C>A)
3g.120650829A>CCA354078090HGDc.379T>G (p.Ser127Ala)
c.256T>G (p.Ser86Ala)
n.487T>G
c.10T>G (p.Ser4Ala)
c.-45T>G (n.-45T>G)
3g.120650829A>GCA354078091HGDc.379T>C (p.Ser127Pro)
c.256T>C (p.Ser86Pro)
n.487T>C
c.10T>C (p.Ser4Pro)
c.-45T>C (n.-45T>C)
3g.120650829A>TCA354078092HGDc.379T>A (p.Ser127Thr)
c.256T>A (p.Ser86Thr)
n.487T>A
c.10T>A (p.Ser4Thr)
c.-45T>A (n.-45T>A)
3g.120650830delCA2580068608HGDc.378del (p.Lys126AsnfsTer30)
c.255del (p.Lys85AsnfsTer30)
n.486del
c.9del (p.Lys3AsnfsTer30)
c.-46del (n.-46del)
 ClinVar
3g.120650830C>ACA354078093HGDc.378G>T (p.Lys126Asn)
c.255G>T (p.Lys85Asn)
n.486G>T
c.9G>T (p.Lys3Asn)
c.-46G>T (n.-46G>T)
 dbSNP gnomAD v4
3g.120650830C=CA1397098568HGDc.378G= (p.Lys126=)
c.255G= (p.Lys85=)
n.486G=
c.9G= (p.Lys3=)
c.-46G= (n.-46G=)
3g.120650830C>GCA2560224HGDc.378G>C (p.Lys126Asn)
c.255G>C (p.Lys85Asn)
n.486G>C
c.9G>C (p.Lys3Asn)
c.-46G>C (n.-46G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.120650830C>TCA435228385HGDc.378G>A (p.Lys126=)
c.255G>A (p.Lys85=)
n.486G>A
c.9G>A (p.Lys3=)
c.-46G>A (n.-46G>A)
3g.120650830_120650832delinsCTTCA1397098567HGDc.376_378delinsAAG (p.Lys126=)
c.253_255delinsAAG (p.Lys85=)
n.484_486delinsAAG
c.7_9delinsAAG (p.Lys3=)
c.-48_-46delinsAAG (n.-48_-46delinsAAG)
3g.120650831T>ACA354078094HGDc.377A>T (p.Lys126Met)
c.254A>T (p.Lys85Met)
n.485A>T
c.8A>T (p.Lys3Met)
c.-47A>T (n.-47A>T)
3g.120650831T>CCA354078095HGDc.377A>G (p.Lys126Arg)
c.254A>G (p.Lys85Arg)
n.485A>G
c.8A>G (p.Lys3Arg)
c.-47A>G (n.-47A>G)
3g.120650831T>GCA354078096HGDc.377A>C (p.Lys126Thr)
c.254A>C (p.Lys85Thr)
n.485A>C
c.8A>C (p.Lys3Thr)
c.-47A>C (n.-47A>C)
 dbSNP gnomAD v4
3g.120650831T=CA1397098569HGDc.377A= (p.Lys126=)
c.254A= (p.Lys85=)
n.485A=
c.8A= (p.Lys3=)
c.-47A= (n.-47A=)
3g.120650832_120650833delCA16040893HGDc.376_377del (p.Lys126ValfsTer2)
c.253_254del (p.Lys85ValfsTer2)
n.484_485del
c.7_8del (p.Lys3ValfsTer2)
c.-48_-47del (n.-48_-47del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120650832T>ACA354078099HGDc.376A>T (p.Lys126Ter)
c.253A>T (p.Lys85Ter)
n.484A>T
c.7A>T (p.Lys3Ter)
c.-48A>T (n.-48A>T)
3g.120650832T>CCA354078098HGDc.376A>G (p.Lys126Glu)
c.253A>G (p.Lys85Glu)
n.484A>G
c.7A>G (p.Lys3Glu)
c.-48A>G (n.-48A>G)
3g.120650832T>GCA354078097HGDc.376A>C (p.Lys126Gln)
c.253A>C (p.Lys85Gln)
n.484A>C
c.7A>C (p.Lys3Gln)
c.-48A>C (n.-48A>C)
3g.120650833T>ACA435228391HGDc.375A>T (p.Ile125=)
c.252A>T (p.Ile84=)
n.483A>T
c.6A>T (p.Ile2=)
c.-49A>T (n.-49A>T)
 ClinVar dbSNP gnomAD v2
3g.120650833T>CCA354078100HGDc.375A>G (p.Ile125Met)
c.252A>G (p.Ile84Met)
n.483A>G
c.6A>G (p.Ile2Met)
c.-49A>G (n.-49A>G)
3g.120650833T>GCA435228392HGDc.375A>C (p.Ile125=)
c.252A>C (p.Ile84=)
n.483A>C
c.6A>C (p.Ile2=)
c.-49A>C (n.-49A>C)
 dbSNP gnomAD v2 gnomAD v4
3g.120650833T=CA1397098570HGDc.375A= (p.Ile125=)
c.252A= (p.Ile84=)
n.483A=
c.6A= (p.Ile2=)
c.-49A= (n.-49A=)
3g.120650834A=CA1397098571HGDc.374T= (p.Ile125=)
c.251T= (p.Ile84=)
n.482T=
c.5T= (p.Ile2=)
c.-50T= (n.-50T=)
3g.120650834A>CCA354078103HGDc.374T>G (p.Ile125Arg)
c.251T>G (p.Ile84Arg)
n.482T>G
c.5T>G (p.Ile2Arg)
c.-50T>G (n.-50T>G)
3g.120650834A>GCA354078101HGDc.374T>C (p.Ile125Thr)
c.251T>C (p.Ile84Thr)
n.482T>C
c.5T>C (p.Ile2Thr)
c.-50T>C (n.-50T>C)
 dbSNP
3g.120650834A>TCA354078102HGDc.374T>A (p.Ile125Lys)
c.251T>A (p.Ile84Lys)
n.482T>A
c.5T>A (p.Ile2Lys)
c.-50T>A (n.-50T>A)
3g.120650835T>ACA354078104HGDc.373A>T (p.Ile125Leu)
c.250A>T (p.Ile84Leu)
n.481A>T
c.4A>T (p.Ile2Leu)
c.-51A>T (n.-51A>T)
3g.120650835T>CCA2560225HGDc.373A>G (p.Ile125Val)
c.250A>G (p.Ile84Val)
n.481A>G
c.4A>G (p.Ile2Val)
c.-51A>G (n.-51A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.120650835T>GCA354078105HGDc.373A>C (p.Ile125Leu)
c.250A>C (p.Ile84Leu)
n.481A>C
c.4A>C (p.Ile2Leu)
c.-51A>C (n.-51A>C)
3g.120650835T=CA1397098572HGDc.373A= (p.Ile125=)
c.250A= (p.Ile84=)
n.481A=
c.4A= (p.Ile2=)
c.-51A= (n.-51A=)
3g.120650836G>ACA2560226HGDc.372C>T (p.Asp124=)
c.249C>T (p.Asp83=)
n.480C>T
c.3C>T (p.Asp1=)
c.-52C>T (n.-52C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120650836G>CCA354078106HGDc.372C>G (p.Asp124Glu)
c.249C>G (p.Asp83Glu)
n.480C>G
c.3C>G (p.Asp1Glu)
c.-52C>G (n.-52C>G)
3g.120650836G=CA1397098573HGDc.372C= (p.Asp124=)
c.249C= (p.Asp83=)
n.480C=
c.3C= (p.Asp1=)
c.-52C= (n.-52C=)
3g.120650836G>TCA354078107HGDc.372C>A (p.Asp124Glu)
c.249C>A (p.Asp83Glu)
n.480C>A
c.3C>A (p.Asp1Glu)
c.-52C>A (n.-52C>A)
3g.120650837T>ACA354078108HGDc.371A>T (p.Asp124Val)
c.248A>T (p.Asp83Val)
n.479A>T
c.2A>T (p.Asp1Val)
c.-53A>T (n.-53A>T)
3g.120650837T>CCA354078109HGDc.371A>G (p.Asp124Gly)
c.248A>G (p.Asp83Gly)
n.479A>G
c.2A>G (p.Asp1Gly)
c.-53A>G (n.-53A>G)
 gnomAD v4
3g.120650837T>GCA354078110HGDc.371A>C (p.Asp124Ala)
c.248A>C (p.Asp83Ala)
n.479A>C
c.2A>C (p.Asp1Ala)
c.-53A>C (n.-53A>C)
3g.120650838C>ACA354078113HGDc.370G>T (p.Asp124Tyr)
c.247G>T (p.Asp83Tyr)
n.478G>T
c.1G>T (p.Asp1Tyr)
c.-54G>T (n.-54G>T)
3g.120650838C>GCA354078112HGDc.370G>C (p.Asp124His)
c.247G>C (p.Asp83His)
n.478G>C
c.1G>C (p.Asp1His)
c.-54G>C (n.-54G>C)
3g.120650838C>TCA354078111HGDc.370G>A (p.Asp124Asn)
c.247G>A (p.Asp83Asn)
n.478G>A
c.1G>A (p.Asp1Asn)
c.-54G>A (n.-54G>A)
 gnomAD v4
3g.120650839T>ACA435228396HGDc.369A>T (p.Gly123=)
c.246A>T (p.Gly82=)
n.477A>T
c.-55A>T (n.-55A>T)
3g.120650839T>CCA435228398HGDc.369A>G (p.Gly123=)
c.246A>G (p.Gly82=)
n.477A>G
c.-55A>G (n.-55A>G)
3g.120650839T>GCA435228399HGDc.369A>C (p.Gly123=)
c.246A>C (p.Gly82=)
n.477A>C
c.-55A>C (n.-55A>C)
3g.120650840C>ACA354078114HGDc.368G>T (p.Gly123Val)
c.245G>T (p.Gly82Val)
n.476G>T
c.-56G>T (n.-56G>T)
3g.120650840C=CA1397098574HGDc.368G= (p.Gly123=)
c.245G= (p.Gly82=)
n.476G=
c.-56G= (n.-56G=)
3g.120650840C>GCA81789629HGDc.368G>C (p.Gly123Ala)
c.245G>C (p.Gly82Ala)
n.476G>C
c.-56G>C (n.-56G>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.120650840C>TCA81789630HGDc.368G>A (p.Gly123Glu)
c.245G>A (p.Gly82Glu)
n.476G>A
c.-56G>A (n.-56G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.120650841C>ACA354078115HGDc.367G>T (p.Gly123Ter)
c.244G>T (p.Gly82Ter)
n.475G>T
c.-57G>T (n.-57G>T)
3g.120650841C=CA1397098575HGDc.367G= (p.Gly123=)
c.244G= (p.Gly82=)
n.475G=
c.-57G= (n.-57G=)
3g.120650841C>GCA354078116HGDc.367G>C (p.Gly123Arg)
c.244G>C (p.Gly82Arg)
n.475G>C
c.-57G>C (n.-57G>C)
3g.120650841C>TCA2560227HGDc.367G>A (p.Gly123Arg)
c.244G>A (p.Gly82Arg)
n.475G>A
c.-57G>A (n.-57G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120650842A>CCA435228401HGDc.366T>G (p.Ala122=)
c.243T>G (p.Ala81=)
n.474T>G
c.-58T>G (n.-58T>G)
3g.120650842A>GCA435228403HGDc.366T>C (p.Ala122=)
c.243T>C (p.Ala81=)
n.474T>C
c.-58T>C (n.-58T>C)
3g.120650842A>TCA435228405HGDc.366T>A (p.Ala122=)
c.243T>A (p.Ala81=)
n.474T>A
c.-58T>A (n.-58T>A)
3g.120650843G>ACA277986HGDc.365C>T (p.Ala122Val)
c.242C>T (p.Ala81Val)
n.473C>T
c.-59C>T (n.-59C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120650843G>CCA354078117HGDc.365C>G (p.Ala122Gly)
c.242C>G (p.Ala81Gly)
n.473C>G
c.-59C>G (n.-59C>G)
 gnomAD v4
3g.120650843G=CA1397098576HGDc.365C= (p.Ala122=)
c.242C= (p.Ala81=)
n.473C=
c.-59C= (n.-59C=)
3g.120650843G>TCA354078118HGDc.365C>A (p.Ala122Asp)
c.242C>A (p.Ala81Asp)
n.473C>A
c.-59C>A (n.-59C>A)
 ClinVar dbSNP
3g.120650844C>ACA354078119HGDc.364G>T (p.Ala122Ser)
c.241G>T (p.Ala81Ser)
n.472G>T
c.-60G>T (n.-60G>T)
3g.120650844C>GCA354078120HGDc.364G>C (p.Ala122Pro)
c.241G>C (p.Ala81Pro)
n.472G>C
c.-60G>C (n.-60G>C)
3g.120650844C>TCA354078121HGDc.364G>A (p.Ala122Thr)
c.241G>A (p.Ala81Thr)
n.472G>A
c.-60G>A (n.-60G>A)
 gnomAD v4
3g.120650845T>ACA435228412HGDc.363A>T (p.Gly121=)
c.240A>T (p.Gly80=)
n.471A>T
c.-61A>T (n.-61A>T)
3g.120650845T>CCA435228408HGDc.363A>G (p.Gly121=)
c.240A>G (p.Gly80=)
n.471A>G
c.-61A>G (n.-61A>G)
3g.120650845T>GCA435228410HGDc.363A>C (p.Gly121=)
c.240A>C (p.Gly80=)
n.471A>C
c.-61A>C (n.-61A>C)
3g.120650846C>ACA354078124HGDc.362G>T (p.Gly121Val)
c.239G>T (p.Gly80Val)
n.470G>T
c.-62G>T (n.-62G>T)
3g.120650846C>GCA354078123HGDc.362G>C (p.Gly121Ala)
c.239G>C (p.Gly80Ala)
n.470G>C
c.-62G>C (n.-62G>C)
3g.120650846C>TCA354078122HGDc.362G>A (p.Gly121Glu)
c.239G>A (p.Gly80Glu)
n.470G>A
c.-62G>A (n.-62G>A)
 ClinVar
3g.120650847C>ACA354078125HGDc.361G>T (p.Gly121Ter)
c.238G>T (p.Gly80Ter)
n.469G>T
c.-63G>T (n.-63G>T)
3g.120650847C=CA1397098577HGDc.361G= (p.Gly121=)
c.238G= (p.Gly80=)
n.469G=
c.-63G= (n.-63G=)
3g.120650847C>GCA354078126HGDc.361G>C (p.Gly121Arg)
c.238G>C (p.Gly80Arg)
n.469G>C
c.-63G>C (n.-63G>C)
3g.120650847C>TCA81789640HGDc.361G>A (p.Gly121Arg)
c.238G>A (p.Gly80Arg)
n.469G>A
c.-63G>A (n.-63G>A)
 dbSNP
3g.120650848A=CA1397098578HGDc.360T= (p.Cys120=)
c.237T= (p.Cys79=)
n.468T=
c.-64T= (n.-64T=)
3g.120650848A>CCA344906HGDc.360T>G (p.Cys120Trp)
c.237T>G (p.Cys79Trp)
n.468T>G
c.-64T>G (n.-64T>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.120650848A>GCA2560228HGDc.360T>C (p.Cys120=)
c.237T>C (p.Cys79=)
n.468T>C
c.-64T>C (n.-64T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120650848A>TCA354078127HGDc.360T>A (p.Cys120Ter)
c.237T>A (p.Cys79Ter)
n.468T>A
c.-64T>A (n.-64T>A)
3g.120650849C>ACA2560230HGDc.359G>T (p.Cys120Phe)
c.236G>T (p.Cys79Phe)
n.467G>T
c.-65G>T (n.-65G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120650849C=CA1397098579HGDc.359G= (p.Cys120=)
c.236G= (p.Cys79=)
n.467G=
c.-65G= (n.-65G=)
3g.120650849C>GCA354078128HGDc.359G>C (p.Cys120Ser)
c.236G>C (p.Cys79Ser)
n.467G>C
c.-65G>C (n.-65G>C)
3g.120650849C>TCA2560229HGDc.359G>A (p.Cys120Tyr)
c.236G>A (p.Cys79Tyr)
n.467G>A
c.-65G>A (n.-65G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.120650850A>CCA354078129HGDc.358T>G (p.Cys120Gly)
c.235T>G (p.Cys79Gly)
n.466T>G
c.-66T>G (n.-66T>G)
3g.120650850A>GCA354078130HGDc.358T>C (p.Cys120Arg)
c.235T>C (p.Cys79Arg)
n.466T>C
c.-66T>C (n.-66T>C)
3g.120650850A>TCA354078131HGDc.358T>A (p.Cys120Ser)
c.235T>A (p.Cys79Ser)
n.466T>A
c.-66T>A (n.-66T>A)
3g.120650851C>ACA354078132HGDc.357G>T (p.Leu119Phe)
c.234G>T (p.Leu78Phe)
n.465G>T
c.-67G>T (n.-67G>T)
 gnomAD v4
3g.120650851C>GCA354078133HGDc.357G>C (p.Leu119Phe)
c.234G>C (p.Leu78Phe)
n.465G>C
c.-67G>C (n.-67G>C)
 gnomAD v4
3g.120650851C>TCA435228419HGDc.357G>A (p.Leu119=)
c.234G>A (p.Leu78=)
n.465G>A
c.-67G>A (n.-67G>A)
 gnomAD v4
3g.120650851dupCA2582342883HGDc.357dup (p.Cys120ValfsTer9)
c.234dup (p.Cys79ValfsTer9)
n.465dup
c.-67dup (n.-67dup)
 ClinVar
3g.120650852A>CCA354078134HGDc.356T>G (p.Leu119Trp)
c.233T>G (p.Leu78Trp)
n.464T>G
c.-68T>G (n.-68T>G)
3g.120650852A>GCA354078136HGDc.356T>C (p.Leu119Ser)
c.233T>C (p.Leu78Ser)
n.464T>C
c.-68T>C (n.-68T>C)
3g.120650852A>TCA354078135HGDc.356T>A (p.Leu119Ter)
c.233T>A (p.Leu78Ter)
n.464T>A
c.-68T>A (n.-68T>A)
3g.120650853A>CCA354078137HGDc.355T>G (p.Leu119Val)
c.232T>G (p.Leu78Val)
n.463T>G
c.-69T>G (n.-69T>G)
3g.120650853A>GCA435228421HGDc.355T>C (p.Leu119=)
c.232T>C (p.Leu78=)
n.463T>C
c.-69T>C (n.-69T>C)
3g.120650853A>TCA354078138HGDc.355T>A (p.Leu119Met)
c.232T>A (p.Leu78Met)
n.463T>A
c.-69T>A (n.-69T>A)
 gnomAD v4
3g.120650854G>ACA81789679HGDc.354C>T (p.Thr118=)
c.231C>T (p.Thr77=)
n.462C>T
c.-70C>T (n.-70C>T)
 dbSNP
3g.120650854G>CCA435228423HGDc.354C>G (p.Thr118=)
c.231C>G (p.Thr77=)
n.462C>G
c.-70C>G (n.-70C>G)
3g.120650854G=CA1397098580HGDc.354C= (p.Thr118=)
c.231C= (p.Thr77=)
n.462C=
c.-70C= (n.-70C=)
3g.120650854G>TCA435228424HGDc.354C>A (p.Thr118=)
c.231C>A (p.Thr77=)
n.462C>A
c.-70C>A (n.-70C>A)
3g.120650855G>ACA354078139HGDc.353C>T (p.Thr118Ile)
c.230C>T (p.Thr77Ile)
n.461C>T
c.-71C>T (n.-71C>T)
3g.120650855G>CCA354078140HGDc.353C>G (p.Thr118Ser)
c.230C>G (p.Thr77Ser)
n.461C>G
c.-71C>G (n.-71C>G)
3g.120650855G>TCA354078141HGDc.353C>A (p.Thr118Asn)
c.230C>A (p.Thr77Asn)
n.461C>A
c.-71C>A (n.-71C>A)
3g.120650856T>ACA354078142HGDc.352A>T (p.Thr118Ser)
c.229A>T (p.Thr77Ser)
n.460A>T
c.-72A>T (n.-72A>T)
3g.120650856T>CCA354078143HGDc.352A>G (p.Thr118Ala)
c.229A>G (p.Thr77Ala)
n.460A>G
c.-72A>G (n.-72A>G)
3g.120650856T>GCA354078144HGDc.352A>C (p.Thr118Pro)
c.229A>C (p.Thr77Pro)
n.460A>C
c.-72A>C (n.-72A>C)
 dbSNP gnomAD v2 gnomAD v4
3g.120650856T=CA1397098581HGDc.352A= (p.Thr118=)
c.229A= (p.Thr77=)
n.460A=
c.-72A= (n.-72A=)
3g.120650857A>CCA354078145HGDc.351T>G (p.His117Gln)
c.228T>G (p.His76Gln)
n.459T>G
c.-73T>G (n.-73T>G)
3g.120650857A>GCA435228426HGDc.351T>C (p.His117=)
c.228T>C (p.His76=)
n.459T>C
c.-73T>C (n.-73T>C)
3g.120650857A>TCA354078146HGDc.351T>A (p.His117Gln)
c.228T>A (p.His76Gln)
n.459T>A
c.-73T>A (n.-73T>A)
3g.120650858T>ACA354078149HGDc.350A>T (p.His117Leu)
c.227A>T (p.His76Leu)
n.458A>T
c.-74A>T (n.-74A>T)
3g.120650858T>CCA354078148HGDc.350A>G (p.His117Arg)
c.227A>G (p.His76Arg)
n.458A>G
c.-74A>G (n.-74A>G)
 dbSNP
3g.120650858T>GCA354078147HGDc.350A>C (p.His117Pro)
c.227A>C (p.His76Pro)
n.458A>C
c.-74A>C (n.-74A>C)
3g.120650858T=CA1397098582HGDc.350A= (p.His117=)
c.227A= (p.His76=)
n.458A=
c.-74A= (n.-74A=)
3g.120650859G>ACA354078150HGDc.349C>T (p.His117Tyr)
c.226C>T (p.His76Tyr)
n.457C>T
c.-75C>T (n.-75C>T)
3g.120650859G>CCA354078151HGDc.349C>G (p.His117Asp)
c.226C>G (p.His76Asp)
n.457C>G
c.-75C>G (n.-75C>G)
3g.120650859G=CA1397098583HGDc.349C= (p.His117=)
c.226C= (p.His76=)
n.457C=
c.-75C= (n.-75C=)
3g.120650859G>TCA2560231HGDc.349C>A (p.His117Asn)
c.226C>A (p.His76Asn)
n.457C>A
c.-75C>A (n.-75C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.120650860C>ACA435228431HGDc.348G>T (p.Leu116=)
c.225G>T (p.Leu75=)
n.456G>T
c.-76G>T (n.-76G>T)
3g.120650860C>GCA435228433HGDc.348G>C (p.Leu116=)
c.225G>C (p.Leu75=)
n.456G>C
c.-76G>C (n.-76G>C)
3g.120650860C>TCA435228434HGDc.348G>A (p.Leu116=)
c.225G>A (p.Leu75=)
n.456G>A
c.-76G>A (n.-76G>A)
 gnomAD v4
3g.120650860_120650866delCA2667172203HGDc.343-1_348del
c.220-1_225del
n.451-1_456del
c.-81-1_-76del
 gnomAD v4
3g.120650861A=CA1397098585HGDc.347T= (p.Leu116=)
c.224T= (p.Leu75=)
n.455T=
c.-77T= (n.-77T=)
3g.120650861A>CCA354078152HGDc.347T>G (p.Leu116Arg)
c.224T>G (p.Leu75Arg)
n.455T>G
c.-77T>G (n.-77T>G)
3g.120650861A>GCA2560232HGDc.347T>C (p.Leu116Pro)
c.224T>C (p.Leu75Pro)
n.455T>C
c.-77T>C (n.-77T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120650861A>TCA354078153HGDc.347T>A (p.Leu116Gln)
c.224T>A (p.Leu75Gln)
n.455T>A
c.-77T>A (n.-77T>A)
3g.120650861_120650862delinsAGCA1397098584HGDc.346_347delinsCT (p.Leu116=)
c.223_224delinsCT (p.Leu75=)
n.454_455delinsCT
c.-78_-77delinsCT (n.-78_-77delinsCT)
3g.120650862G>ACA435228435HGDc.346C>T (p.Leu116=)
c.223C>T (p.Leu75=)
n.454C>T
c.-78C>T (n.-78C>T)
3g.120650862G>CCA354078154HGDc.346C>G (p.Leu116Val)
c.223C>G (p.Leu75Val)
n.454C>G
c.-78C>G (n.-78C>G)
3g.120650862G>TCA354078155HGDc.346C>A (p.Leu116Met)
c.223C>A (p.Leu75Met)
n.454C>A
c.-78C>A (n.-78C>A)
3g.120650863delCA16040894HGDc.346del (p.Leu116CysfsTer10)
c.223del (p.Leu75CysfsTer10)
n.454del
c.-78del (n.-78del)
 ClinVar dbSNP
3g.120650863G>ACA435228439HGDc.345C>T (p.Gly115=)
c.222C>T (p.Gly74=)
n.453C>T
c.-79C>T (n.-79C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.120650863G>CCA435228440HGDc.345C>G (p.Gly115=)
c.222C>G (p.Gly74=)
n.453C>G
c.-79C>G (n.-79C>G)
3g.120650863G=CA1397098586HGDc.345C= (p.Gly115=)
c.222C= (p.Gly74=)
n.453C=
c.-79C= (n.-79C=)
3g.120650863G>TCA435228441HGDc.345C>A (p.Gly115=)
c.222C>A (p.Gly74=)
n.453C>A
c.-79C>A (n.-79C>A)
3g.120650864C>ACA354078156HGDc.344G>T (p.Gly115Val)
c.221G>T (p.Gly74Val)
n.452G>T
c.-80G>T (n.-80G>T)
3g.120650864C>GCA354078157HGDc.344G>C (p.Gly115Ala)
c.221G>C (p.Gly74Ala)
n.452G>C
c.-80G>C (n.-80G>C)
3g.120650864C>TCA354078158HGDc.344G>A (p.Gly115Asp)
c.221G>A (p.Gly74Asp)
n.452G>A
c.-80G>A (n.-80G>A)
3g.120650865C>ACA354078159HGDc.343G>T (p.Gly115Cys)
c.220G>T (p.Gly74Cys)
n.451G>T
c.-81G>T (n.-81G>T)
3g.120650865C=CA1397098587HGDc.343G= (p.Gly115=)
c.220G= (p.Gly74=)
n.451G=
c.-81G= (n.-81G=)
3g.120650865C>GCA2560233HGDc.343G>C (p.Gly115Arg)
c.220G>C (p.Gly74Arg)
n.451G>C
c.-81G>C (n.-81G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120650865C>TCA354078160HGDc.343G>A (p.Gly115Ser)
c.220G>A (p.Gly74Ser)
n.451G>A
c.-81G>A (n.-81G>A)
 gnomAD v4

Number of alleles fetched