Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.74421632_74422072delCA2499226858SLC16A2c.-6_430+5del
 ClinVar dbSNP
Xg.74422022C>ACA413656380SLC16A2c.385C>A (p.Leu129Ile)
c.131C>A
Xg.74422022C=CA2437472675SLC16A2c.385C= (p.Leu129=)
c.131C=
Xg.74422022C>GCA413656381SLC16A2c.385C>G (p.Leu129Val)
c.131C>G
Xg.74422022C>TCA517464557SLC16A2c.385C>T (p.Leu129=)
c.131C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.74422023T>ACA413656382SLC16A2c.386T>A (p.Leu129Gln)
c.132T>A
Xg.74422023T>CCA413656383SLC16A2c.386T>C (p.Leu129Pro)
c.132T>C
Xg.74422023T>GCA413656384SLC16A2c.386T>G (p.Leu129Arg)
c.132T>G
Xg.74422024A>CCA517464560SLC16A2c.387A>C (p.Leu129=)
c.133A>C
Xg.74422024A>GCA517464563SLC16A2c.387A>G (p.Leu129=)
c.133A>G
 gnomAD v3 gnomAD v4
Xg.74422024A>TCA517464558SLC16A2c.387A>T (p.Leu129=)
c.133A>T
Xg.74422025G>ACA413656387SLC16A2c.388G>A (p.Glu130Lys)
c.134G>A
Xg.74422025G>CCA413656386SLC16A2c.388G>C (p.Glu130Gln)
c.134G>C
 gnomAD v3 gnomAD v4
Xg.74422025G>TCA413656385SLC16A2c.388G>T (p.Glu130Ter)
c.134G>T
Xg.74422026A>CCA413656388SLC16A2c.389A>C (p.Glu130Ala)
c.135A>C
Xg.74422026A>GCA413656389SLC16A2c.389A>G (p.Glu130Gly)
c.135A>G
Xg.74422026A>TCA413656390SLC16A2c.389A>T (p.Glu130Val)
c.135A>T
Xg.74422027G>ACA517464567SLC16A2c.390G>A (p.Glu130=)
c.136G>A
 gnomAD v4
Xg.74422027G>CCA413656391SLC16A2c.390G>C (p.Glu130Asp)
c.136G>C
Xg.74422027G>TCA413656392SLC16A2c.390G>T (p.Glu130Asp)
c.136G>T
Xg.74422028G>ACA413656393SLC16A2c.391G>A (p.Glu131Lys)
c.137G>A
Xg.74422028G>CCA413656394SLC16A2c.391G>C (p.Glu131Gln)
c.137G>C
Xg.74422028G>TCA413656395SLC16A2c.391G>T (p.Glu131Ter)
c.137G>T
Xg.74422029A>CCA413656396SLC16A2c.392A>C (p.Glu131Ala)
c.138A>C
Xg.74422029A>GCA413656397SLC16A2c.392A>G (p.Glu131Gly)
c.138A>G
Xg.74422029A>TCA413656398SLC16A2c.392A>T (p.Glu131Val)
c.138A>T
Xg.74422030G>ACA517464574SLC16A2c.393G>A (p.Glu131=)
c.139G>A
Xg.74422030G>CCA413656399SLC16A2c.393G>C (p.Glu131Asp)
c.139G>C
Xg.74422030G=CA2437472676SLC16A2c.393G= (p.Glu131=)
c.139G=
Xg.74422030G>TCA413656400SLC16A2c.393G>T (p.Glu131Asp)
c.139G>T
 dbSNP gnomAD v2 gnomAD v4
Xg.74422031G>ACA10454398SLC16A2c.394G>A (p.Glu132Lys)
c.140G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.74422031G>CCA413656402SLC16A2c.394G>C (p.Glu132Gln)
c.140G>C
Xg.74422031G=CA2437472677SLC16A2c.394G= (p.Glu132=)
c.140G=
Xg.74422031G>TCA413656401SLC16A2c.394G>T (p.Glu132Ter)
c.140G>T
Xg.74422032A>CCA413656403SLC16A2c.395A>C (p.Glu132Ala)
c.141A>C
Xg.74422032A>GCA413656404SLC16A2c.395A>G (p.Glu132Gly)
c.141A>G
Xg.74422032A>TCA413656405SLC16A2c.395A>T (p.Glu132Val)
c.141A>T
Xg.74422033A>CCA413656406SLC16A2c.396A>C (p.Glu132Asp)
c.142A>C
Xg.74422033A>GCA517464579SLC16A2c.396A>G (p.Glu132=)
c.142A>G
Xg.74422033A>TCA413656407SLC16A2c.396A>T (p.Glu132Asp)
c.142A>T
Xg.74422034A>CCA413656408SLC16A2c.397A>C (p.Lys133Gln)
c.143A>C
Xg.74422034A>GCA413656409SLC16A2c.397A>G (p.Lys133Glu)
c.143A>G
Xg.74422034A>TCA413656410SLC16A2c.397A>T (p.Lys133Ter)
c.143A>T
Xg.74422035A>CCA413656411SLC16A2c.398A>C (p.Lys133Thr)
c.144A>C
Xg.74422035A>GCA413656412SLC16A2c.398A>G (p.Lys133Arg)
c.144A>G
 gnomAD v3 gnomAD v4
Xg.74422035A>TCA413656413SLC16A2c.398A>T (p.Lys133Met)
c.144A>T
Xg.74422036G>ACA517464584SLC16A2c.399G>A (p.Lys133=)
c.145G>A
 gnomAD v3 gnomAD v4
Xg.74422036G>CCA413656414SLC16A2c.399G>C (p.Lys133Asn)
c.145G>C
Xg.74422036G>TCA413656415SLC16A2c.399G>T (p.Lys133Asn)
c.145G>T
Xg.74422037G>ACA413656416SLC16A2c.400G>A (p.Glu134Lys)
c.146G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.74422037G>CCA413656418SLC16A2c.400G>C (p.Glu134Gln)
c.146G>C
Xg.74422037G=CA2437472678SLC16A2c.400G= (p.Glu134=)
c.146G=
Xg.74422037G>TCA413656417SLC16A2c.400G>T (p.Glu134Ter)
c.146G>T
Xg.74422038A=CA2437472679SLC16A2c.401A= (p.Glu134=)
c.147A=
Xg.74422038A>CCA413656419SLC16A2c.401A>C (p.Glu134Ala)
c.147A>C
Xg.74422038A>GCA10454399SLC16A2c.401A>G (p.Glu134Gly)
c.147A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.74422038A>TCA413656420SLC16A2c.401A>T (p.Glu134Val)
c.147A>T
Xg.74422044dupCA517464587SLC16A2c.407dup (p.Asn136LysfsTer31)
c.153dup
 ClinVar dbSNP COSMIC
Xg.74422044delCA2573159668SLC16A2c.407del (p.Asn136IlefsTer18)
c.153del
 ClinVar dbSNP gnomAD v4
Xg.74422039A>CCA413656421SLC16A2c.402A>C (p.Glu134Asp)
c.148A>C
Xg.74422039A>GCA517464590SLC16A2c.402A>G (p.Glu134=)
c.148A>G
 gnomAD v3 gnomAD v4
Xg.74422039A>TCA413656422SLC16A2c.402A>T (p.Glu134Asp)
c.148A>T
Xg.74422040A>CCA413656423SLC16A2c.403A>C (p.Lys135Gln)
c.149A>C
Xg.74422040A>GCA413656424SLC16A2c.403A>G (p.Lys135Glu)
c.149A>G
Xg.74422040A>TCA413656425SLC16A2c.403A>T (p.Lys135Ter)
c.149A>T
Xg.74422041A>CCA413656426SLC16A2c.404A>C (p.Lys135Thr)
c.150A>C
Xg.74422041A>GCA413656427SLC16A2c.404A>G (p.Lys135Arg)
c.150A>G
Xg.74422041A>TCA413656428SLC16A2c.404A>T (p.Lys135Ile)
c.150A>T
Xg.74422042A>CCA413656429SLC16A2c.405A>C (p.Lys135Asn)
c.151A>C
Xg.74422042A>GCA517464597SLC16A2c.405A>G (p.Lys135=)
c.151A>G
Xg.74422042A>TCA413656430SLC16A2c.405A>T (p.Lys135Asn)
c.151A>T
Xg.74422043A>CCA413656431SLC16A2c.406A>C (p.Asn136His)
c.152A>C
 gnomAD v4
Xg.74422043A>GCA413656432SLC16A2c.406A>G (p.Asn136Asp)
c.152A>G
Xg.74422043A>TCA413656433SLC16A2c.406A>T (p.Asn136Tyr)
c.152A>T
Xg.74422044A>CCA413656436SLC16A2c.407A>C (p.Asn136Thr)
c.153A>C
Xg.74422044A>GCA413656434SLC16A2c.407A>G (p.Asn136Ser)
c.153A>G
Xg.74422044A>TCA413656435SLC16A2c.407A>T (p.Asn136Ile)
c.153A>T
Xg.74422044_74422045insGCA2695234502SLC16A2c.407_408insG (p.Asn136LysfsTer31)
c.153_154insG
Xg.74422045T>ACA413656437SLC16A2c.408T>A (p.Asn136Lys)
c.154T>A
Xg.74422045T>CCA517464601SLC16A2c.408T>C (p.Asn136=)
c.154T>C
Xg.74422045T>GCA413656438SLC16A2c.408T>G (p.Asn136Lys)
c.154T>G
Xg.74422047_74422060delCA2695234501SLC16A2c.410_423del (p.Arg137ProfsTer25)
c.156_169del
Xg.74422046C>ACA413656439SLC16A2c.409C>A (p.Arg137Ser)
c.155C>A
Xg.74422046C>GCA413656440SLC16A2c.409C>G (p.Arg137Gly)
c.155C>G
Xg.74422046C>TCA413656441SLC16A2c.409C>T (p.Arg137Cys)
c.155C>T
Xg.74422047G>ACA413656442SLC16A2c.410G>A (p.Arg137His)
c.156G>A
 dbSNP gnomAD v4
Xg.74422047G>CCA413656443SLC16A2c.410G>C (p.Arg137Pro)
c.156G>C
Xg.74422047G=CA2437472680SLC16A2c.410G= (p.Arg137=)
c.156G=
Xg.74422047G>TCA10454400SLC16A2c.410G>T (p.Arg137Leu)
c.156G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.74422048C>ACA517464606SLC16A2c.411C>A (p.Arg137=)
c.157C>A
 gnomAD v3 gnomAD v4
Xg.74422048C>GCA517464607SLC16A2c.411C>G (p.Arg137=)
c.157C>G
Xg.74422048C>TCA517464608SLC16A2c.411C>T (p.Arg137=)
c.157C>T
Xg.74422048_74422049delCA2694114361SLC16A2c.411_412del (p.Gln138SerfsTer28)
c.157_158del
 gnomAD v4
Xg.74422049C>ACA413656444SLC16A2c.412C>A (p.Gln138Lys)
c.158C>A
Xg.74422049C=CA2437472681SLC16A2c.412C= (p.Gln138=)
c.158C=
Xg.74422049C>GCA222960SLC16A2c.412C>G (p.Gln138Glu)
c.158C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.74422049C>TCA413656445SLC16A2c.412C>T (p.Gln138Ter)
c.158C>T
Xg.74422050A=CA2437472682SLC16A2c.413A= (p.Gln138=)
c.159A=
Xg.74422050A>CCA413656447SLC16A2c.413A>C (p.Gln138Pro)
c.159A>C
Xg.74422050A>GCA413656448SLC16A2c.413A>G (p.Gln138Arg)
c.159A>G
 dbSNP
Xg.74422050A>TCA413656446SLC16A2c.413A>T (p.Gln138Leu)
c.159A>T
Xg.74422051A>CCA413656449SLC16A2c.414A>C (p.Gln138His)
c.160A>C
Xg.74422051A>GCA517464612SLC16A2c.414A>G (p.Gln138=)
c.160A>G
Xg.74422051A>TCA413656450SLC16A2c.414A>T (p.Gln138His)
c.160A>T
Xg.74422052G>ACA413656451SLC16A2c.415G>A (p.Val139Met)
c.161G>A
Xg.74422052G>CCA413656452SLC16A2c.415G>C (p.Val139Leu)
c.161G>C
 gnomAD v4
Xg.74422052G>TCA413656453SLC16A2c.415G>T (p.Val139Leu)
c.161G>T
Xg.74422053T>ACA413656454SLC16A2c.416T>A (p.Val139Glu)
c.162T>A
Xg.74422053T>CCA413656455SLC16A2c.416T>C (p.Val139Ala)
c.162T>C
Xg.74422053T>GCA413656456SLC16A2c.416T>G (p.Val139Gly)
c.162T>G
Xg.74422054G>ACA517464621SLC16A2c.417G>A (p.Val139=)
c.163G>A
Xg.74422054G>CCA517464620SLC16A2c.417G>C (p.Val139=)
c.163G>C
Xg.74422054G>TCA517464619SLC16A2c.417G>T (p.Val139=)
c.163G>T
Xg.74422055G>ACA413656457SLC16A2c.418G>A (p.Glu140Lys)
c.164G>A
Xg.74422055G>CCA413656458SLC16A2c.418G>C (p.Glu140Gln)
c.164G>C
Xg.74422055G>TCA413656459SLC16A2c.418G>T (p.Glu140Ter)
c.164G>T
Xg.74422056A>CCA413656461SLC16A2c.419A>C (p.Glu140Ala)
c.165A>C
 gnomAD v4
Xg.74422056A>GCA413656462SLC16A2c.419A>G (p.Glu140Gly)
c.165A>G
Xg.74422056A>TCA413656460SLC16A2c.419A>T (p.Glu140Val)
c.165A>T
Xg.74422057G>ACA517464627SLC16A2c.420G>A (p.Glu140=)
c.166G>A
Xg.74422057G>CCA413656463SLC16A2c.420G>C (p.Glu140Asp)
c.166G>C
Xg.74422057G>TCA413656464SLC16A2c.420G>T (p.Glu140Asp)
c.166G>T
Xg.74422058T>ACA413656465SLC16A2c.421T>A (p.Phe141Ile)
c.167T>A
Xg.74422058T>CCA413656466SLC16A2c.421T>C (p.Phe141Leu)
c.167T>C
 gnomAD v4
Xg.74422058T>GCA413656467SLC16A2c.421T>G (p.Phe141Val)
c.167T>G
Xg.74422059T>ACA413656470SLC16A2c.422T>A (p.Phe141Tyr)
c.168T>A
Xg.74422059T>CCA413656468SLC16A2c.422T>C (p.Phe141Ser)
c.168T>C
Xg.74422059T>GCA413656469SLC16A2c.422T>G (p.Phe141Cys)
c.168T>G
Xg.74422060C>ACA413656471SLC16A2c.423C>A (p.Phe141Leu)
c.169C>A
Xg.74422060C=CA2437472683SLC16A2c.423C= (p.Phe141=)
c.169C=
Xg.74422060C>GCA413656472SLC16A2c.423C>G (p.Phe141Leu)
c.169C>G
Xg.74422060C>TCA517464634SLC16A2c.423C>T (p.Phe141=)
c.169C>T
 dbSNP
Xg.74422061C>ACA413656473SLC16A2c.424C>A (p.Gln142Lys)
c.170C>A
Xg.74422061C>GCA413656474SLC16A2c.424C>G (p.Gln142Glu)
c.170C>G
Xg.74422061C>TCA413656475SLC16A2c.424C>T (p.Gln142Ter)
c.170C>T
Xg.74422062A>CCA413656478SLC16A2c.425A>C (p.Gln142Pro)
c.171A>C
Xg.74422062A>GCA413656477SLC16A2c.425A>G (p.Gln142Arg)
c.171A>G
Xg.74422062A>TCA413656476SLC16A2c.425A>T (p.Gln142Leu)
c.171A>T
Xg.74422063A>CCA413656479SLC16A2c.426A>C (p.Gln142His)
c.172A>C
Xg.74422063A>GCA517464636SLC16A2c.426A>G (p.Gln142=)
c.172A>G
Xg.74422063A>TCA413656480SLC16A2c.426A>T (p.Gln142His)
c.172A>T
Xg.74422064G>ACA413656481SLC16A2c.427G>A (p.Ala143Thr)
c.173G>A
Xg.74422064G>CCA413656482SLC16A2c.427G>C (p.Ala143Pro)
c.173G>C
Xg.74422064G>TCA413656483SLC16A2c.427G>T (p.Ala143Ser)
c.173G>T
Xg.74422064_74422086delCA2695234503SLC16A2c.427_430+19del
c.173_176+19del
Xg.74422065C>ACA413656484SLC16A2c.428C>A (p.Ala143Glu)
c.174C>A
Xg.74422065C>GCA413656485SLC16A2c.428C>G (p.Ala143Gly)
c.174C>G
Xg.74422065C>TCA413656486SLC16A2c.428C>T (p.Ala143Val)
c.174C>T
 ClinVar dbSNP
Xg.74422066A>CCA517464641SLC16A2c.429A>C (p.Ala143=)
c.175A>C
Xg.74422066A>GCA517464642SLC16A2c.429A>G (p.Ala143=)
c.175A>G
 gnomAD v4
Xg.74422066A>TCA517464643SLC16A2c.429A>T (p.Ala143=)
c.175A>T
Xg.74422067G>ACA413656487SLC16A2c.430G>A (p.Ala144Thr)
c.176G>A
Xg.74422067G>CCA413656488SLC16A2c.430G>C (p.Ala144Pro)
c.176G>C
Xg.74422067G>TCA413656489SLC16A2c.430G>T (p.Ala144Ser)
c.176G>T
Xg.74422068G>ACA413656490SLC16A2c.430+1G>A (n.430+1G>A)
c.176+1G>A
Xg.74422068G>CCA413656491SLC16A2c.430+1G>C (n.430+1G>C)
c.176+1G>C
Xg.74422068G>TCA413656492SLC16A2c.430+1G>T (n.430+1G>T)
c.176+1G>T
Xg.74422069T>ACA413656495SLC16A2c.430+2T>A (n.430+2T>A)
c.176+2T>A
Xg.74422069T>CCA413656494SLC16A2c.430+2T>C (n.430+2T>C)
c.176+2T>C
Xg.74422069T>GCA413656493SLC16A2c.430+2T>G (n.430+2T>G)
c.176+2T>G
Xg.74422070G>TCA2694114362SLC16A2c.430+3G>T (n.430+3G>T)
c.176+3G>T
 gnomAD v4
Xg.74422072G>ACA2437472685SLC16A2c.430+5G>A (n.430+5G>A)
c.176+5G>A
 dbSNP
Xg.74422072G=CA2437472684SLC16A2c.430+5G= (n.430+5G=)
c.176+5G=
Xg.74422072G>TCA891843972SLC16A2c.430+5G>T (n.430+5G>T)
c.176+5G>T
 ClinVar dbSNP
Xg.74422073T>CCA10454401SLC16A2c.430+6T>C (n.430+6T>C)
c.176+6T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.74422073T=CA2437472687SLC16A2c.430+6T= (n.430+6T=)
c.176+6T=
Xg.74422073_74422083delinsTGGCCCCGCACCA2437472686SLC16A2c.430+6_430+16delinsTGGCCCCGCAC (n.430+6_430+16delinsTGGCCCCGCAC)
c.176+6_176+16delinsTGGCCCCGCAC
Xg.74422074G>ACA10454402SLC16A2c.430+7G>A (n.430+7G>A)
c.176+7G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.74422074G=CA2437472689SLC16A2c.430+7G= (n.430+7G=)
c.176+7G=
Xg.74422074G>TCA2694114363SLC16A2c.430+7G>T (n.430+7G>T)
c.176+7G>T
 gnomAD v4
Xg.74422075_74422084delCA2437472688SLC16A2c.430+8_430+17del (n.430+8_430+17del)
c.176+8_176+17del
 dbSNP gnomAD v4
Xg.74422075G>ACA2579647049SLC16A2c.430+8G>A (n.430+8G>A)
c.176+8G>A
Xg.74422077C>ACA2694114364SLC16A2c.430+10C>A (n.430+10C>A)
c.176+10C>A
 gnomAD v4
Xg.74422077C>TCA2738715366SLC16A2c.430+10C>T (n.430+10C>T)
c.176+10C>T
 dbSNP
Xg.74422078C>TCA2579647050SLC16A2c.430+11C>T (n.430+11C>T)
c.176+11C>T
 ClinVar
Xg.74422079C>ACA2694114365SLC16A2c.430+12C>A (n.430+12C>A)
c.176+12C>A
 gnomAD v4
Xg.74422079C=CA2437472690SLC16A2c.430+12C= (n.430+12C=)
c.176+12C=
Xg.74422079C>GCA2694114366SLC16A2c.430+12C>G (n.430+12C>G)
c.176+12C>G
 gnomAD v4
Xg.74422079C>TCA643005895SLC16A2c.430+12C>T (n.430+12C>T)
c.176+12C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.74422080G>ACA2579647051SLC16A2c.430+13G>A (n.430+13G>A)
c.176+13G>A
 gnomAD v4
Xg.74422081C>TCA2694114367SLC16A2c.430+14C>T (n.430+14C>T)
c.176+14C>T
 gnomAD v4
Xg.74422083C>ACA878055550SLC16A2c.430+16C>A (n.430+16C>A)
c.176+16C>A
 dbSNP
Xg.74422083C=CA2437472691SLC16A2c.430+16C= (n.430+16C=)
c.176+16C=
Xg.74422083C>GCA2694114368SLC16A2c.430+16C>G (n.430+16C>G)
c.176+16C>G
 gnomAD v4
Xg.74422084G>ACA2694114369SLC16A2c.430+17G>A (n.430+17G>A)
c.176+17G>A
 gnomAD v4
Xg.74422084G=CA2437472692SLC16A2c.430+17G= (n.430+17G=)
c.176+17G=
Xg.74422084G>TCA10454403SLC16A2c.430+17G>T (n.430+17G>T)
c.176+17G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.74422085C>ACA878055552SLC16A2c.430+18C>A (n.430+18C>A)
c.176+18C>A
 dbSNP gnomAD v4
Xg.74422085C=CA2437472693SLC16A2c.430+18C= (n.430+18C=)
c.176+18C=
Xg.74422088C>ACA643005896SLC16A2c.430+21C>A (n.430+21C>A)
c.176+21C>A
 dbSNP gnomAD v2
Xg.74422088C=CA2437472694SLC16A2c.430+21C= (n.430+21C=)
c.176+21C=
Xg.74422089A=CA2437472695SLC16A2c.430+22A= (n.430+22A=)
c.176+22A=
Xg.74422089A>CCA643005897SLC16A2c.430+22A>C (n.430+22A>C)
c.176+22A>C
 dbSNP gnomAD v2 gnomAD v4
Xg.74422089A>TCA878055553SLC16A2c.430+22A>T (n.430+22A>T)
c.176+22A>T
 dbSNP gnomAD v3 gnomAD v4
Xg.74422091T>ACA2694114370SLC16A2c.430+24T>A (n.430+24T>A)
c.176+24T>A
 gnomAD v4
Xg.74422091T>CCA2694114371SLC16A2c.430+24T>C (n.430+24T>C)
c.176+24T>C
 gnomAD v4
Xg.74422092T>CCA643005898SLC16A2c.430+25T>C (n.430+25T>C)
c.176+25T>C
 dbSNP gnomAD v2 gnomAD v4
Xg.74422092T=CA2437472696SLC16A2c.430+25T= (n.430+25T=)
c.176+25T=
Xg.74422094G>ACA878055561SLC16A2c.430+27G>A (n.430+27G>A)
c.176+27G>A
 dbSNP gnomAD v4
Xg.74422094G=CA2437472697SLC16A2c.430+27G= (n.430+27G=)
c.176+27G=
Xg.74422094G>TCA2694114372SLC16A2c.430+27G>T (n.430+27G>T)
c.176+27G>T
 gnomAD v4
Xg.74422095C>ACA2694114373SLC16A2c.430+28C>A (n.430+28C>A)
c.176+28C>A
 gnomAD v4
Xg.74422095C>TCA2694114374SLC16A2c.430+28C>T (n.430+28C>T)
c.176+28C>T
 gnomAD v4
Xg.74422100T>GCA10454404SLC16A2c.430+33T>G (n.430+33T>G)
c.176+33T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.74422100T=CA2437472698SLC16A2c.430+33T= (n.430+33T=)
c.176+33T=
Xg.74422101G>ACA643005899SLC16A2c.430+34G>A (n.430+34G>A)
c.176+34G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.74422101G=CA2437472699SLC16A2c.430+34G= (n.430+34G=)
c.176+34G=
Xg.74422102G>CCA643005900SLC16A2c.430+35G>C (n.430+35G>C)
c.176+35G>C
 dbSNP gnomAD v2 gnomAD v4
Xg.74422102G=CA2437472700SLC16A2c.430+35G= (n.430+35G=)
c.176+35G=
Xg.74422103G>ACA2694114375SLC16A2c.430+36G>A (n.430+36G>A)
c.176+36G>A
 gnomAD v4
Xg.74422107G>ACA2694114376SLC16A2c.430+40G>A (n.430+40G>A)
c.176+40G>A
 gnomAD v4
Xg.74422107G>CCA2694114377SLC16A2c.430+40G>C (n.430+40G>C)
c.176+40G>C
 gnomAD v4
Xg.74422108G>ACA2579647052SLC16A2c.430+41G>A (n.430+41G>A)
c.176+41G>A
 gnomAD v4
Xg.74422109T>GCA2694114378SLC16A2c.430+42T>G (n.430+42T>G)
c.176+42T>G
 gnomAD v4
Xg.74422112G>ACA2694114379SLC16A2c.430+45G>A (n.430+45G>A)
c.176+45G>A
 gnomAD v4
Xg.74422113C>ACA643005901SLC16A2c.430+46C>A (n.430+46C>A)
c.176+46C>A
 dbSNP gnomAD v2
Xg.74422113C=CA2437472701SLC16A2c.430+46C= (n.430+46C=)
c.176+46C=
Xg.74422113C>TCA2509439169SLC16A2c.430+46C>T (n.430+46C>T)
c.176+46C>T
 gnomAD v4
Xg.74422114C>ACA2694114380SLC16A2c.430+47C>A (n.430+47C>A)
c.176+47C>A
 gnomAD v4
Xg.74422114C=CA2437472702SLC16A2c.430+47C= (n.430+47C=)
c.176+47C=
Xg.74422114C>TCA878055579SLC16A2c.430+47C>T (n.430+47C>T)
c.176+47C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.74422115G>ACA2579647053SLC16A2c.430+48G>A (n.430+48G>A)
c.176+48G>A
 gnomAD v4
Xg.74422115G>CCA10454405SLC16A2c.430+48G>C (n.430+48G>C)
c.176+48G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.74422115G=CA2437472703SLC16A2c.430+48G= (n.430+48G=)
c.176+48G=
Xg.74422115G>TCA643005902SLC16A2c.430+48G>T (n.430+48G>T)
c.176+48G>T
 dbSNP gnomAD v2
Xg.74422116C>ACA2694114382SLC16A2c.430+49C>A (n.430+49C>A)
c.176+49C>A
 gnomAD v4
Xg.74422116C=CA2437472704SLC16A2c.430+49C= (n.430+49C=)
c.176+49C=
Xg.74422116C>TCA2437472705SLC16A2c.430+49C>T (n.430+49C>T)
c.176+49C>T
 dbSNP
Xg.74422117_74422120delCA2694114381SLC16A2c.430+50_430+53del (n.430+50_430+53del)
c.176+50_176+53del
 gnomAD v4
Xg.74422117_74422118delinsTCCA2437472706SLC16A2c.430+50_430+51delinsTC (n.430+50_430+51delinsTC)
c.176+50_176+51delinsTC
Xg.74422118C>ACA2694114383SLC16A2c.430+51C>A (n.430+51C>A)
c.176+51C>A
 gnomAD v4
Xg.74422118C>TCA2579647054SLC16A2c.430+51C>T (n.430+51C>T)
c.176+51C>T
Xg.74422120delCA643005903SLC16A2c.430+53del (n.430+53del)
c.176+53del
 dbSNP gnomAD v2 gnomAD v4
Xg.74422119C>ACA2579647055SLC16A2c.430+52C>A (n.430+52C>A)
c.176+52C>A
 gnomAD v4
Xg.74422120C>ACA2521240387SLC16A2c.430+53C>A (n.430+53C>A)
c.176+53C>A
 gnomAD v4
Xg.74422120C>TCA2694114384SLC16A2c.430+53C>T (n.430+53C>T)
c.176+53C>T
 gnomAD v4
Xg.74422121G>ACA2579647056SLC16A2c.430+54G>A (n.430+54G>A)
c.176+54G>A
 gnomAD v4
Xg.74422121_74422122insGGAGCA2694114385SLC16A2c.430+54_430+55insGGAG (n.430+54_430+55insGGAG)
c.176+54_176+55insGGAG
 gnomAD v4
Xg.74422122C>ACA2694114386SLC16A2c.430+55C>A (n.430+55C>A)
c.176+55C>A
 gnomAD v4

Number of alleles fetched