Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.67490204T>ACA381551338AIPc.612T>A
c.446T>A (p.Leu149Gln)
n.1147T>A
c.468+749T>A (n.468+749T>A)
c.266T>A (p.Leu89Gln)
c.635T>A (p.Leu212Gln)
c.458T>A (p.Leu153Gln)
c.455T>A (p.Leu152Gln)
c.287T>A (p.Leu96Gln)
11g.67490204T>CCA381551340AIPc.612T>C
c.446T>C (p.Leu149Pro)
n.1147T>C
c.468+749T>C (n.468+749T>C)
c.266T>C (p.Leu89Pro)
c.635T>C (p.Leu212Pro)
c.458T>C (p.Leu153Pro)
c.455T>C (p.Leu152Pro)
c.287T>C (p.Leu96Pro)
11g.67490204T>GCA381551335AIPc.612T>G
c.446T>G (p.Leu149Arg)
n.1147T>G
c.468+749T>G (n.468+749T>G)
c.266T>G (p.Leu89Arg)
c.635T>G (p.Leu212Arg)
c.458T>G (p.Leu153Arg)
c.455T>G (p.Leu152Arg)
c.287T>G (p.Leu96Arg)
11g.67490205G>ACA475509314AIPc.613G>A
c.447G>A (p.Leu149=)
n.1148G>A
c.468+750G>A (n.468+750G>A)
c.267G>A (p.Leu89=)
c.636G>A (p.Leu212=)
c.459G>A (p.Leu153=)
c.456G>A (p.Leu152=)
c.288G>A (p.Leu96=)
11g.67490205G>CCA475509315AIPc.613G>C
c.447G>C (p.Leu149=)
n.1148G>C
c.468+750G>C (n.468+750G>C)
c.267G>C (p.Leu89=)
c.636G>C (p.Leu212=)
c.459G>C (p.Leu153=)
c.456G>C (p.Leu152=)
c.288G>C (p.Leu96=)
11g.67490205G>TCA475509316AIPc.613G>T
c.447G>T (p.Leu149=)
n.1148G>T
c.468+750G>T (n.468+750G>T)
c.267G>T (p.Leu89=)
c.636G>T (p.Leu212=)
c.459G>T (p.Leu153=)
c.456G>T (p.Leu152=)
c.288G>T (p.Leu96=)
11g.67490205_67490217delCA2614623406AIPc.613_622+3del
c.447_456+3del
n.1148_1157+3del
c.468+750_468+762del (n.468+750_468+762del)
c.267_276+3del
c.636_645+3del
c.459_468+3del
c.456_465+3del
c.288_297+3del
 gnomAD v4
11g.67490206C>ACA381551342AIPc.614C>A
c.448C>A (p.Gln150Lys)
n.1149C>A
c.468+751C>A (n.468+751C>A)
c.268C>A (p.Gln90Lys)
c.637C>A (p.Gln213Lys)
c.460C>A (p.Gln154Lys)
c.457C>A (p.Gln153Lys)
c.289C>A (p.Gln97Lys)
11g.67490206C>GCA381551346AIPc.614C>G
c.448C>G (p.Gln150Glu)
n.1149C>G
c.468+751C>G (n.468+751C>G)
c.268C>G (p.Gln90Glu)
c.637C>G (p.Gln213Glu)
c.460C>G (p.Gln154Glu)
c.457C>G (p.Gln153Glu)
c.289C>G (p.Gln97Glu)
11g.67490206C>TCA381551347AIPc.614C>T
c.448C>T (p.Gln150Ter)
n.1149C>T
c.468+751C>T (n.468+751C>T)
c.268C>T (p.Gln90Ter)
c.637C>T (p.Gln213Ter)
c.460C>T (p.Gln154Ter)
c.457C>T (p.Gln153Ter)
c.289C>T (p.Gln97Ter)
11g.67490207A>CCA381551351AIPc.615A>C
c.449A>C (p.Gln150Pro)
n.1150A>C
c.468+752A>C (n.468+752A>C)
c.269A>C (p.Gln90Pro)
c.638A>C (p.Gln213Pro)
c.461A>C (p.Gln154Pro)
c.458A>C (p.Gln153Pro)
c.290A>C (p.Gln97Pro)
11g.67490207A>GCA381551355AIPc.615A>G
c.449A>G (p.Gln150Arg)
n.1150A>G
c.468+752A>G (n.468+752A>G)
c.269A>G (p.Gln90Arg)
c.638A>G (p.Gln213Arg)
c.461A>G (p.Gln154Arg)
c.458A>G (p.Gln153Arg)
c.290A>G (p.Gln97Arg)
11g.67490207A>TCA381551358AIPc.615A>T
c.449A>T (p.Gln150Leu)
n.1150A>T
c.468+752A>T (n.468+752A>T)
c.269A>T (p.Gln90Leu)
c.638A>T (p.Gln213Leu)
c.461A>T (p.Gln154Leu)
c.458A>T (p.Gln153Leu)
c.290A>T (p.Gln97Leu)
11g.67490208G>ACA475509319AIPc.616G>A
c.450G>A (p.Gln150=)
n.1151G>A
c.468+753G>A (n.468+753G>A)
c.270G>A (p.Gln90=)
c.639G>A (p.Gln213=)
c.462G>A (p.Gln154=)
c.459G>A (p.Gln153=)
c.291G>A (p.Gln97=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.67490208G>CCA381551362AIPc.616G>C
c.450G>C (p.Gln150His)
n.1151G>C
c.468+753G>C (n.468+753G>C)
c.270G>C (p.Gln90His)
c.639G>C (p.Gln213His)
c.462G>C (p.Gln154His)
c.459G>C (p.Gln153His)
c.291G>C (p.Gln97His)
 dbSNP gnomAD v3 gnomAD v4
11g.67490208G=CA1980172345AIPc.616G=
c.450G= (p.Gln150=)
n.1151G=
c.468+753G= (n.468+753G=)
c.270G= (p.Gln90=)
c.639G= (p.Gln213=)
c.462G= (p.Gln154=)
c.459G= (p.Gln153=)
c.291G= (p.Gln97=)
11g.67490208G>TCA381551365AIPc.616G>T
c.450G>T (p.Gln150His)
n.1151G>T
c.468+753G>T (n.468+753G>T)
c.270G>T (p.Gln90His)
c.639G>T (p.Gln213His)
c.462G>T (p.Gln154His)
c.459G>T (p.Gln153His)
c.291G>T (p.Gln97His)
11g.67490210_67490212delCA2580084735AIPc.618_620del
c.452_454del (p.Met151del)
n.1153_1155del
c.468+755_468+757del (n.468+755_468+757del)
c.272_274del (p.Met91del)
c.641_643del (p.Met214del)
c.464_466del (p.Met155del)
c.461_463del (p.Met154del)
c.293_295del (p.Met98del)
 ClinVar
11g.67490209A>CCA224165102AIPc.617A>C
c.451A>C (p.Met151Leu)
n.1152A>C
c.468+754A>C (n.468+754A>C)
c.271A>C (p.Met91Leu)
c.640A>C (p.Met214Leu)
c.463A>C (p.Met155Leu)
c.460A>C (p.Met154Leu)
c.292A>C (p.Met98Leu)
11g.67490209A>GCA381551366AIPc.617A>G
c.451A>G (p.Met151Val)
n.1152A>G
c.468+754A>G (n.468+754A>G)
c.271A>G (p.Met91Val)
c.640A>G (p.Met214Val)
c.463A>G (p.Met155Val)
c.460A>G (p.Met154Val)
c.292A>G (p.Met98Val)
11g.67490209A>TCA381551367AIPc.617A>T
c.451A>T (p.Met151Leu)
n.1152A>T
c.468+754A>T (n.468+754A>T)
c.271A>T (p.Met91Leu)
c.640A>T (p.Met214Leu)
c.463A>T (p.Met155Leu)
c.460A>T (p.Met154Leu)
c.292A>T (p.Met98Leu)
 gnomAD v4
11g.67490210T>ACA381551370AIPc.618T>A
c.452T>A (p.Met151Lys)
n.1153T>A
c.468+755T>A (n.468+755T>A)
c.272T>A (p.Met91Lys)
c.641T>A (p.Met214Lys)
c.464T>A (p.Met155Lys)
c.461T>A (p.Met154Lys)
c.293T>A (p.Met98Lys)
11g.67490210T>CCA381551373AIPc.618T>C
c.452T>C (p.Met151Thr)
n.1153T>C
c.468+755T>C (n.468+755T>C)
c.272T>C (p.Met91Thr)
c.641T>C (p.Met214Thr)
c.464T>C (p.Met155Thr)
c.461T>C (p.Met154Thr)
c.293T>C (p.Met98Thr)
 ClinVar
11g.67490210T>GCA381551368AIPc.618T>G
c.452T>G (p.Met151Arg)
n.1153T>G
c.468+755T>G (n.468+755T>G)
c.272T>G (p.Met91Arg)
c.641T>G (p.Met214Arg)
c.464T>G (p.Met155Arg)
c.461T>G (p.Met154Arg)
c.293T>G (p.Met98Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.67490210T=CA1980172346AIPc.618T=
c.452T= (p.Met151=)
n.1153T=
c.468+755T= (n.468+755T=)
c.272T= (p.Met91=)
c.641T= (p.Met214=)
c.464T= (p.Met155=)
c.461T= (p.Met154=)
c.293T= (p.Met98=)
11g.67490211G>ACA381551376AIPc.619G>A
c.453G>A (p.Met151Ile)
n.1154G>A
c.468+756G>A (n.468+756G>A)
c.273G>A (p.Met91Ile)
c.642G>A (p.Met214Ile)
c.465G>A (p.Met155Ile)
c.462G>A (p.Met154Ile)
c.294G>A (p.Met98Ile)
11g.67490211G>CCA381551379AIPc.619G>C
c.453G>C (p.Met151Ile)
n.1154G>C
c.468+756G>C (n.468+756G>C)
c.273G>C (p.Met91Ile)
c.642G>C (p.Met214Ile)
c.465G>C (p.Met155Ile)
c.462G>C (p.Met154Ile)
c.294G>C (p.Met98Ile)
11g.67490211G>TCA381551382AIPc.619G>T
c.453G>T (p.Met151Ile)
n.1154G>T
c.468+756G>T (n.468+756G>T)
c.273G>T (p.Met91Ile)
c.642G>T (p.Met214Ile)
c.465G>T (p.Met155Ile)
c.462G>T (p.Met154Ile)
c.294G>T (p.Met98Ile)
11g.67490212A=CA1980172347AIPc.620A=
c.454A= (p.Lys152=)
n.1155A=
c.468+757A= (n.468+757A=)
c.274A= (p.Lys92=)
c.643A= (p.Lys215=)
c.466A= (p.Lys156=)
c.463A= (p.Lys155=)
c.295A= (p.Lys99=)
11g.67490212A>CCA381551386AIPc.620A>C
c.454A>C (p.Lys152Gln)
n.1155A>C
c.468+757A>C (n.468+757A>C)
c.274A>C (p.Lys92Gln)
c.643A>C (p.Lys215Gln)
c.466A>C (p.Lys156Gln)
c.463A>C (p.Lys155Gln)
c.295A>C (p.Lys99Gln)
11g.67490212A>GCA381551388AIPc.620A>G
c.454A>G (p.Lys152Glu)
n.1155A>G
c.468+757A>G (n.468+757A>G)
c.274A>G (p.Lys92Glu)
c.643A>G (p.Lys215Glu)
c.466A>G (p.Lys156Glu)
c.463A>G (p.Lys155Glu)
c.295A>G (p.Lys99Glu)
11g.67490212A>TCA381551389AIPc.620A>T
c.454A>T (p.Lys152Ter)
n.1155A>T
c.468+757A>T (n.468+757A>T)
c.274A>T (p.Lys92Ter)
c.643A>T (p.Lys215Ter)
c.466A>T (p.Lys156Ter)
c.463A>T (p.Lys155Ter)
c.295A>T (p.Lys99Ter)
 ClinVar dbSNP
11g.67490213A>CCA381551392AIPc.621A>C
c.455A>C (p.Lys152Thr)
n.1156A>C
c.468+758A>C (n.468+758A>C)
c.275A>C (p.Lys92Thr)
c.644A>C (p.Lys215Thr)
c.467A>C (p.Lys156Thr)
c.464A>C (p.Lys155Thr)
c.296A>C (p.Lys99Thr)
 ClinVar
11g.67490213A>GCA381551400AIPc.621A>G
c.455A>G (p.Lys152Arg)
n.1156A>G
c.468+758A>G (n.468+758A>G)
c.275A>G (p.Lys92Arg)
c.644A>G (p.Lys215Arg)
c.467A>G (p.Lys156Arg)
c.464A>G (p.Lys155Arg)
c.296A>G (p.Lys99Arg)
11g.67490213A>TCA381551399AIPc.621A>T
c.455A>T (p.Lys152Met)
n.1156A>T
c.468+758A>T (n.468+758A>T)
c.275A>T (p.Lys92Met)
c.644A>T (p.Lys215Met)
c.467A>T (p.Lys156Met)
c.464A>T (p.Lys155Met)
c.296A>T (p.Lys99Met)
11g.67490214G>ACA475509324AIPc.622G>A
c.456G>A (p.Lys152=)
n.1157G>A
c.468+759G>A (n.468+759G>A)
c.276G>A (p.Lys92=)
c.645G>A (p.Lys215=)
c.468G>A (p.Lys156=)
c.465G>A (p.Lys155=)
c.297G>A (p.Lys99=)
 gnomAD v4
11g.67490214G>CCA381551403AIPc.622G>C
c.456G>C (p.Lys152Asn)
n.1157G>C
c.468+759G>C (n.468+759G>C)
c.276G>C (p.Lys92Asn)
c.645G>C (p.Lys215Asn)
c.468G>C (p.Lys156Asn)
c.465G>C (p.Lys155Asn)
c.297G>C (p.Lys99Asn)
 ClinVar
11g.67490214G>TCA381551405AIPc.622G>T
c.456G>T (p.Lys152Asn)
n.1157G>T
c.468+759G>T (n.468+759G>T)
c.276G>T (p.Lys92Asn)
c.645G>T (p.Lys215Asn)
c.468G>T (p.Lys156Asn)
c.465G>T (p.Lys155Asn)
c.297G>T (p.Lys99Asn)
 gnomAD v4
11g.67490215G>ACA381551408AIPc.622+1G>A
c.456+1G>A (n.456+1G>A)
n.1157+1G>A
c.468+760G>A (n.468+760G>A)
c.276+1G>A (n.276+1G>A)
c.645+1G>A (n.645+1G>A)
c.468+1G>A (n.468+1G>A)
c.465+1G>A (n.465+1G>A)
c.297+1G>A (n.297+1G>A)
11g.67490215G>CCA381551410AIPc.622+1G>C
c.456+1G>C (n.456+1G>C)
n.1157+1G>C
c.468+760G>C (n.468+760G>C)
c.276+1G>C (n.276+1G>C)
c.645+1G>C (n.645+1G>C)
c.468+1G>C (n.468+1G>C)
c.465+1G>C (n.465+1G>C)
c.297+1G>C (n.297+1G>C)
 gnomAD v4
11g.67490215G>TCA381551414AIPc.622+1G>T
c.456+1G>T (n.456+1G>T)
n.1157+1G>T
c.468+760G>T (n.468+760G>T)
c.276+1G>T (n.276+1G>T)
c.645+1G>T (n.645+1G>T)
c.468+1G>T (n.468+1G>T)
c.465+1G>T (n.465+1G>T)
c.297+1G>T (n.297+1G>T)
11g.67490216T>ACA381551421AIPc.622+2T>A
c.456+2T>A (n.456+2T>A)
n.1157+2T>A
c.468+761T>A (n.468+761T>A)
c.276+2T>A (n.276+2T>A)
c.645+2T>A (n.645+2T>A)
c.468+2T>A (n.468+2T>A)
c.465+2T>A (n.465+2T>A)
c.297+2T>A (n.297+2T>A)
11g.67490216T>CCA381551423AIPc.622+2T>C
c.456+2T>C (n.456+2T>C)
n.1157+2T>C
c.468+761T>C (n.468+761T>C)
c.276+2T>C (n.276+2T>C)
c.645+2T>C (n.645+2T>C)
c.468+2T>C (n.468+2T>C)
c.465+2T>C (n.465+2T>C)
c.297+2T>C (n.297+2T>C)
 ClinVar dbSNP gnomAD v4
11g.67490216T>GCA381551419AIPc.622+2T>G
c.456+2T>G (n.456+2T>G)
n.1157+2T>G
c.468+761T>G (n.468+761T>G)
c.276+2T>G (n.276+2T>G)
c.645+2T>G (n.645+2T>G)
c.468+2T>G (n.468+2T>G)
c.465+2T>G (n.465+2T>G)
c.297+2T>G (n.297+2T>G)
11g.67490216T=CA1980172348AIPc.622+2T=
c.456+2T= (n.456+2T=)
n.1157+2T=
c.468+761T= (n.468+761T=)
c.276+2T= (n.276+2T=)
c.645+2T= (n.645+2T=)
c.468+2T= (n.468+2T=)
c.465+2T= (n.465+2T=)
c.297+2T= (n.297+2T=)
11g.67490216_67490217insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTCCA2505234741AIPc.622+2_622+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC
c.456+2_456+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC (n.456+2_456+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC)
n.1157+2_1157+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC
c.468+761_468+762insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC (n.468+761_468+762insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC)
c.276+2_276+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC (n.276+2_276+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC)
c.645+2_645+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC (n.645+2_645+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC)
c.468+2_468+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC (n.468+2_468+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC)
c.465+2_465+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC (n.465+2_465+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC)
c.297+2_297+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC (n.297+2_297+3insGGGCTCTCCCATCCCTCGGGGTTCCGCCGCCCTCCTGTCGGTGCCGGCGCTC)
11g.67490217A>GCA2724392283AIPc.622+3A>G
c.456+3A>G (n.456+3A>G)
n.1157+3A>G
c.468+762A>G (n.468+762A>G)
c.276+3A>G (n.276+3A>G)
c.645+3A>G (n.645+3A>G)
c.468+3A>G (n.468+3A>G)
c.465+3A>G (n.465+3A>G)
c.297+3A>G (n.297+3A>G)
 dbSNP
11g.67490218C=CA1980172349AIPc.622+4C=
c.456+4C= (n.456+4C=)
n.1157+4C=
c.468+763C= (n.468+763C=)
c.276+4C= (n.276+4C=)
c.645+4C= (n.645+4C=)
c.468+4C= (n.468+4C=)
c.465+4C= (n.465+4C=)
c.297+4C= (n.297+4C=)
11g.67490218C>GCA679494033AIPc.622+4C>G
c.456+4C>G (n.456+4C>G)
n.1157+4C>G
c.468+763C>G (n.468+763C>G)
c.276+4C>G (n.276+4C>G)
c.645+4C>G (n.645+4C>G)
c.468+4C>G (n.468+4C>G)
c.465+4C>G (n.465+4C>G)
c.297+4C>G (n.297+4C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.67490220G>ACA1980172351AIPc.622+6G>A
c.456+6G>A (n.456+6G>A)
n.1157+6G>A
c.468+765G>A (n.468+765G>A)
c.276+6G>A (n.276+6G>A)
c.645+6G>A (n.645+6G>A)
c.468+6G>A (n.468+6G>A)
c.465+6G>A (n.465+6G>A)
c.297+6G>A (n.297+6G>A)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched