Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.1398902T>ACA402993867GAMTc.570+14A>T (n.570+14A>T)
c.584A>T (p.Glu195Val)
c.253+14A>T
n.403+14A>T
c.501+14A>T (n.501+14A>T)
c.255+14A>T (n.255+14A>T)
19g.1398902T>CCA402993865GAMTc.570+14A>G (n.570+14A>G)
c.584A>G (p.Glu195Gly)
c.253+14A>G
n.403+14A>G
c.501+14A>G (n.501+14A>G)
c.255+14A>G (n.255+14A>G)
19g.1398902T>GCA402993864GAMTc.570+14A>C (n.570+14A>C)
c.584A>C (p.Glu195Ala)
c.253+14A>C
n.403+14A>C
c.501+14A>C (n.501+14A>C)
c.255+14A>C (n.255+14A>C)
19g.1398903C>ACA402993872GAMTc.570+13G>T (n.570+13G>T)
c.583G>T (p.Glu195Ter)
c.253+13G>T
n.403+13G>T
c.501+13G>T (n.501+13G>T)
c.255+13G>T (n.255+13G>T)
 dbSNP gnomAD v3 gnomAD v4
19g.1398903C=CA2317698984GAMTc.570+13G= (n.570+13G=)
c.583G= (p.Glu195=)
c.253+13G=
n.403+13G=
c.501+13G= (n.501+13G=)
c.255+13G= (n.255+13G=)
19g.1398903C>GCA402993874GAMTc.570+13G>C (n.570+13G>C)
c.583G>C (p.Glu195Gln)
c.253+13G>C
n.403+13G>C
c.501+13G>C (n.501+13G>C)
c.255+13G>C (n.255+13G>C)
19g.1398903C>TCA402993876GAMTc.570+13G>A (n.570+13G>A)
c.583G>A (p.Glu195Lys)
c.253+13G>A
n.403+13G>A
c.501+13G>A (n.501+13G>A)
c.255+13G>A (n.255+13G>A)
19g.1398904A=CA2317698985GAMTc.570+12T= (n.570+12T=)
c.582T= (p.Pro194=)
c.253+12T=
n.403+12T=
c.501+12T= (n.501+12T=)
c.255+12T= (n.255+12T=)
19g.1398904A>CCA504895004GAMTc.570+12T>G (n.570+12T>G)
c.582T>G (p.Pro194=)
c.253+12T>G
n.403+12T>G
c.501+12T>G (n.501+12T>G)
c.255+12T>G (n.255+12T>G)
19g.1398904A>GCA504895005GAMTc.570+12T>C (n.570+12T>C)
c.582T>C (p.Pro194=)
c.253+12T>C
n.403+12T>C
c.501+12T>C (n.501+12T>C)
c.255+12T>C (n.255+12T>C)
 dbSNP gnomAD v3 gnomAD v4
19g.1398904A>TCA504895006GAMTc.570+12T>A (n.570+12T>A)
c.582T>A (p.Pro194=)
c.253+12T>A
n.403+12T>A
c.501+12T>A (n.501+12T>A)
c.255+12T>A (n.255+12T>A)
19g.1398905G>ACA9043605GAMTc.570+11C>T (n.570+11C>T)
c.581C>T (p.Pro194Leu)
c.253+11C>T
n.403+11C>T
c.501+11C>T (n.501+11C>T)
c.255+11C>T (n.255+11C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1398905G>CCA9043606GAMTc.570+11C>G (n.570+11C>G)
c.581C>G (p.Pro194Arg)
c.253+11C>G
n.403+11C>G
c.501+11C>G (n.501+11C>G)
c.255+11C>G (n.255+11C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1398905G=CA2317698986GAMTc.570+11C= (n.570+11C=)
c.581C= (p.Pro194=)
c.253+11C=
n.403+11C=
c.501+11C= (n.501+11C=)
c.255+11C= (n.255+11C=)
19g.1398905G>TCA402993880GAMTc.570+11C>A (n.570+11C>A)
c.581C>A (p.Pro194His)
c.253+11C>A
n.403+11C>A
c.501+11C>A (n.501+11C>A)
c.255+11C>A (n.255+11C>A)
19g.1398906G>ACA402993884GAMTc.570+10C>T (n.570+10C>T)
c.580C>T (p.Pro194Ser)
c.253+10C>T
n.403+10C>T
c.501+10C>T (n.501+10C>T)
c.255+10C>T (n.255+10C>T)
 gnomAD v4
19g.1398906G>CCA402993890GAMTc.570+10C>G (n.570+10C>G)
c.580C>G (p.Pro194Ala)
c.253+10C>G
n.403+10C>G
c.501+10C>G (n.501+10C>G)
c.255+10C>G (n.255+10C>G)
19g.1398906G>TCA402993888GAMTc.570+10C>A (n.570+10C>A)
c.580C>A (p.Pro194Thr)
c.253+10C>A
n.403+10C>A
c.501+10C>A (n.501+10C>A)
c.255+10C>A (n.255+10C>A)
19g.1398907T>ACA504895008GAMTc.570+9A>T (n.570+9A>T)
c.579A>T (p.Pro193=)
c.253+9A>T
n.403+9A>T
c.501+9A>T (n.501+9A>T)
c.255+9A>T (n.255+9A>T)
19g.1398907T>CCA504895009GAMTc.570+9A>G (n.570+9A>G)
c.579A>G (p.Pro193=)
c.253+9A>G
n.403+9A>G
c.501+9A>G (n.501+9A>G)
c.255+9A>G (n.255+9A>G)
19g.1398907T>GCA9043607GAMTc.570+9A>C (n.570+9A>C)
c.579A>C (p.Pro193=)
c.253+9A>C
n.403+9A>C
c.501+9A>C (n.501+9A>C)
c.255+9A>C (n.255+9A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1398907T=CA2317698987GAMTc.570+9A= (n.570+9A=)
c.579A= (p.Pro193=)
c.253+9A=
n.403+9A=
c.501+9A= (n.501+9A=)
c.255+9A= (n.255+9A=)
19g.1398908G>ACA402993896GAMTc.570+8C>T (n.570+8C>T)
c.578C>T (p.Pro193Leu)
c.253+8C>T
n.403+8C>T
c.501+8C>T (n.501+8C>T)
c.255+8C>T (n.255+8C>T)
19g.1398908G>CCA402993899GAMTc.570+8C>G (n.570+8C>G)
c.578C>G (p.Pro193Arg)
c.253+8C>G
n.403+8C>G
c.501+8C>G (n.501+8C>G)
c.255+8C>G (n.255+8C>G)
19g.1398908G>TCA402993902GAMTc.570+8C>A (n.570+8C>A)
c.578C>A (p.Pro193Gln)
c.253+8C>A
n.403+8C>A
c.501+8C>A (n.501+8C>A)
c.255+8C>A (n.255+8C>A)
19g.1398909G>ACA402993909GAMTc.570+7C>T (n.570+7C>T)
c.577C>T (p.Pro193Ser)
c.253+7C>T
n.403+7C>T
c.501+7C>T (n.501+7C>T)
c.255+7C>T (n.255+7C>T)
19g.1398909G>CCA402993912GAMTc.570+7C>G (n.570+7C>G)
c.577C>G (p.Pro193Ala)
c.253+7C>G
n.403+7C>G
c.501+7C>G (n.501+7C>G)
c.255+7C>G (n.255+7C>G)
19g.1398909G>TCA402993918GAMTc.570+7C>A (n.570+7C>A)
c.577C>A (p.Pro193Thr)
c.253+7C>A
n.403+7C>A
c.501+7C>A (n.501+7C>A)
c.255+7C>A (n.255+7C>A)
19g.1398910G>ACA9043608GAMTc.570+6C>T (n.570+6C>T)
c.576C>T (p.Arg192=)
c.253+6C>T
n.403+6C>T
c.501+6C>T (n.501+6C>T)
c.255+6C>T (n.255+6C>T)
 ClinVar dbSNP ExAC gnomAD v4
19g.1398910G>CCA504895012GAMTc.570+6C>G (n.570+6C>G)
c.576C>G (p.Arg192=)
c.253+6C>G
n.403+6C>G
c.501+6C>G (n.501+6C>G)
c.255+6C>G (n.255+6C>G)
19g.1398910G=CA2317698988GAMTc.570+6C= (n.570+6C=)
c.576C= (p.Arg192=)
c.253+6C=
n.403+6C=
c.501+6C= (n.501+6C=)
c.255+6C= (n.255+6C=)
19g.1398910G>TCA504895015GAMTc.570+6C>A (n.570+6C>A)
c.576C>A (p.Arg192=)
c.253+6C>A
n.403+6C>A
c.501+6C>A (n.501+6C>A)
c.255+6C>A (n.255+6C>A)
19g.1398911C>ACA9043609GAMTc.570+5G>T (n.570+5G>T)
c.575G>T (p.Arg192Leu)
c.253+5G>T
n.403+5G>T
c.501+5G>T (n.501+5G>T)
c.255+5G>T (n.255+5G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1398911C=CA2317698989GAMTc.570+5G= (n.570+5G=)
c.575G= (p.Arg192=)
c.253+5G=
n.403+5G=
c.501+5G= (n.501+5G=)
c.255+5G= (n.255+5G=)
19g.1398911C>GCA402993926GAMTc.570+5G>C (n.570+5G>C)
c.575G>C (p.Arg192Pro)
c.253+5G>C
n.403+5G>C
c.501+5G>C (n.501+5G>C)
c.255+5G>C (n.255+5G>C)
19g.1398911C>TCA9043610GAMTc.570+5G>A (n.570+5G>A)
c.575G>A (p.Arg192His)
c.253+5G>A
n.403+5G>A
c.501+5G>A (n.501+5G>A)
c.255+5G>A (n.255+5G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.1398912G>ACA9043611GAMTc.570+4C>T (n.570+4C>T)
c.574C>T (p.Arg192Cys)
c.253+4C>T
n.403+4C>T
c.501+4C>T (n.501+4C>T)
c.255+4C>T (n.255+4C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1398912G>CCA402993935GAMTc.570+4C>G (n.570+4C>G)
c.574C>G (p.Arg192Gly)
c.253+4C>G
n.403+4C>G
c.501+4C>G (n.501+4C>G)
c.255+4C>G (n.255+4C>G)
19g.1398912G=CA2317698990GAMTc.570+4C= (n.570+4C=)
c.574C= (p.Arg192=)
c.253+4C=
n.403+4C=
c.501+4C= (n.501+4C=)
c.255+4C= (n.255+4C=)
19g.1398912G>TCA402993933GAMTc.570+4C>A (n.570+4C>A)
c.574C>A (p.Arg192Ser)
c.253+4C>A
n.403+4C>A
c.501+4C>A (n.501+4C>A)
c.255+4C>A (n.255+4C>A)
 gnomAD v4
19g.1398913C>ACA504895019GAMTc.570+3G>T (n.570+3G>T)
c.573G>T (p.Val191=)
c.253+3G>T
n.403+3G>T
c.501+3G>T (n.501+3G>T)
c.255+3G>T (n.255+3G>T)
19g.1398913C>GCA504895017GAMTc.570+3G>C (n.570+3G>C)
c.573G>C (p.Val191=)
c.253+3G>C
n.403+3G>C
c.501+3G>C (n.501+3G>C)
c.255+3G>C (n.255+3G>C)
19g.1398913C>TCA504895018GAMTc.570+3G>A (n.570+3G>A)
c.573G>A (p.Val191=)
c.253+3G>A
n.403+3G>A
c.501+3G>A (n.501+3G>A)
c.255+3G>A (n.255+3G>A)
 gnomAD v4
19g.1398914A>CCA402993937GAMTc.570+2T>G (n.570+2T>G)
c.572T>G (p.Val191Gly)
c.253+2T>G
n.403+2T>G
c.501+2T>G (n.501+2T>G)
c.255+2T>G (n.255+2T>G)
19g.1398914A>GCA402993938GAMTc.570+2T>C (n.570+2T>C)
c.572T>C (p.Val191Ala)
c.253+2T>C
n.403+2T>C
c.501+2T>C (n.501+2T>C)
c.255+2T>C (n.255+2T>C)
19g.1398914A>TCA402993940GAMTc.570+2T>A (n.570+2T>A)
c.572T>A (p.Val191Glu)
c.253+2T>A
n.403+2T>A
c.501+2T>A (n.501+2T>A)
c.255+2T>A (n.255+2T>A)
19g.1398915C>ACA402993945GAMTc.570+1G>T (n.570+1G>T)
c.571G>T (p.Val191Leu)
c.253+1G>T
n.403+1G>T
c.501+1G>T (n.501+1G>T)
c.255+1G>T (n.255+1G>T)
19g.1398915C>GCA402993947GAMTc.570+1G>C (n.570+1G>C)
c.571G>C (p.Val191Leu)
c.253+1G>C
n.403+1G>C
c.501+1G>C (n.501+1G>C)
c.255+1G>C (n.255+1G>C)
19g.1398915C>TCA402993948GAMTc.570+1G>A (n.570+1G>A)
c.571G>A (p.Val191Met)
c.253+1G>A
n.403+1G>A
c.501+1G>A (n.501+1G>A)
c.255+1G>A (n.255+1G>A)
 ClinVar dbSNP
19g.1398916C>ACA402993950GAMTc.570G>T (p.Glu190Asp)
c.253G>T
n.403G>T
c.501G>T (p.Glu167Asp)
c.255G>T (p.Glu85Asp)
19g.1398916C>GCA402993951GAMTc.570G>C (p.Glu190Asp)
c.253G>C
n.403G>C
c.501G>C (p.Glu167Asp)
c.255G>C (p.Glu85Asp)
19g.1398916C>TCA504895025GAMTc.570G>A (p.Glu190=)
c.253G>A
n.403G>A
c.501G>A (p.Glu167=)
c.255G>A (p.Glu85=)
19g.1398916_1398917delinsCTCA2317698991GAMTc.569_570delinsAG (p.Glu190=)
c.252_253delinsAG
n.402_403delinsAG
c.500_501delinsAG (p.Glu167=)
c.254_255delinsAG (p.Glu85=)
19g.1398917delCA2317698992GAMTc.569del (p.Glu190GlyfsTer22)
c.569del (p.Glu190GlyfsTer?)
c.252del
n.402del
c.500del (p.Glu167GlyfsTer22)
c.254del (p.Glu85GlyfsTer?)
 dbSNP
19g.1398917T>ACA402993953GAMTc.569A>T (p.Glu190Val)
c.252A>T
n.402A>T
c.500A>T (p.Glu167Val)
c.254A>T (p.Glu85Val)
19g.1398917T>CCA402993955GAMTc.569A>G (p.Glu190Gly)
c.252A>G
n.402A>G
c.500A>G (p.Glu167Gly)
c.254A>G (p.Glu85Gly)
19g.1398917T>GCA402993956GAMTc.569A>C (p.Glu190Ala)
c.252A>C
n.402A>C
c.500A>C (p.Glu167Ala)
c.254A>C (p.Glu85Ala)
19g.1398918C>ACA402993959GAMTc.568G>T (p.Glu190Ter)
c.251G>T
n.401G>T
c.499G>T (p.Glu167Ter)
c.253G>T (p.Glu85Ter)
 gnomAD v4
19g.1398918C>GCA402993961GAMTc.568G>C (p.Glu190Gln)
c.251G>C
n.401G>C
c.499G>C (p.Glu167Gln)
c.253G>C (p.Glu85Gln)
19g.1398918C>TCA402993966GAMTc.568G>A (p.Glu190Lys)
c.251G>A
n.401G>A
c.499G>A (p.Glu167Lys)
c.253G>A (p.Glu85Lys)
 gnomAD v4 COSMIC COSMIC
19g.1398919A=CA2317698993GAMTc.567T= (p.Phe189=)
c.250T=
n.400T=
c.498T= (p.Phe166=)
c.252T= (p.Phe84=)
19g.1398919A>CCA402993971GAMTc.567T>G (p.Phe189Leu)
c.250T>G
n.400T>G
c.498T>G (p.Phe166Leu)
c.252T>G (p.Phe84Leu)
 dbSNP gnomAD v4
19g.1398919A>GCA504895029GAMTc.567T>C (p.Phe189=)
c.250T>C
n.400T>C
c.498T>C (p.Phe166=)
c.252T>C (p.Phe84=)
19g.1398919A>TCA402993974GAMTc.567T>A (p.Phe189Leu)
c.250T>A
n.400T>A
c.498T>A (p.Phe166Leu)
c.252T>A (p.Phe84Leu)
19g.1398920A>CCA402993976GAMTc.566T>G (p.Phe189Cys)
c.249T>G
n.399T>G
c.497T>G (p.Phe166Cys)
c.251T>G (p.Phe84Cys)
19g.1398920A>GCA402993977GAMTc.566T>C (p.Phe189Ser)
c.249T>C
n.399T>C
c.497T>C (p.Phe166Ser)
c.251T>C (p.Phe84Ser)
19g.1398920A>TCA402993978GAMTc.566T>A (p.Phe189Tyr)
c.249T>A
n.399T>A
c.497T>A (p.Phe166Tyr)
c.251T>A (p.Phe84Tyr)
19g.1398921A>CCA402993981GAMTc.565T>G (p.Phe189Val)
c.248T>G
n.398T>G
c.496T>G (p.Phe166Val)
c.250T>G (p.Phe84Val)
19g.1398921A>GCA402993990GAMTc.565T>C (p.Phe189Leu)
c.248T>C
n.398T>C
c.496T>C (p.Phe166Leu)
c.250T>C (p.Phe84Leu)
 gnomAD v4
19g.1398921A>TCA402993992GAMTc.565T>A (p.Phe189Ile)
c.248T>A
n.398T>A
c.496T>A (p.Phe166Ile)
c.250T>A (p.Phe84Ile)
19g.1398922C>ACA402994004GAMTc.564G>T (p.Met188Ile)
c.247G>T
n.397G>T
c.495G>T (p.Met165Ile)
c.249G>T (p.Met83Ile)
 ClinVar
19g.1398922C>GCA402994008GAMTc.564G>C (p.Met188Ile)
c.247G>C
n.397G>C
c.495G>C (p.Met165Ile)
c.249G>C (p.Met83Ile)
19g.1398922C>TCA402994013GAMTc.564G>A (p.Met188Ile)
c.247G>A
n.397G>A
c.495G>A (p.Met165Ile)
c.249G>A (p.Met83Ile)
 gnomAD v4
19g.1398922_1398924dupCA2813256000GAMTc.562_564dup (p.Met188_Phe189insMet)
c.245_247dup
n.395_397dup
c.493_495dup (p.Met165_Phe166insMet)
c.247_249dup (p.Met83_Phe84insMet)
19g.1398923A=CA2317698994GAMTc.563T= (p.Met188=)
c.246T=
n.396T=
c.494T= (p.Met165=)
c.248T= (p.Met83=)
19g.1398923A>CCA402994017GAMTc.563T>G (p.Met188Arg)
c.246T>G
n.396T>G
c.494T>G (p.Met165Arg)
c.248T>G (p.Met83Arg)
19g.1398923A>GCA402994021GAMTc.563T>C (p.Met188Thr)
c.246T>C
n.396T>C
c.494T>C (p.Met165Thr)
c.248T>C (p.Met83Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.1398923A>TCA402994027GAMTc.563T>A (p.Met188Lys)
c.246T>A
n.396T>A
c.494T>A (p.Met165Lys)
c.248T>A (p.Met83Lys)
 ClinVar dbSNP
19g.1398926_1398928delCA2813256001GAMTc.561_563del (p.Ile187del)
c.244_246del
n.394_396del
c.492_494del (p.Ile164del)
c.246_248del (p.Ile82del)
19g.1398924T>ACA402994031GAMTc.562A>T (p.Met188Leu)
c.245A>T
n.395A>T
c.493A>T (p.Met165Leu)
c.247A>T (p.Met83Leu)
19g.1398924T>CCA402994039GAMTc.562A>G (p.Met188Val)
c.245A>G
n.395A>G
c.493A>G (p.Met165Val)
c.247A>G (p.Met83Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.1398924T>GCA402994034GAMTc.562A>C (p.Met188Leu)
c.245A>C
n.395A>C
c.493A>C (p.Met165Leu)
c.247A>C (p.Met83Leu)
19g.1398924T=CA2317698995GAMTc.562A= (p.Met188=)
c.245A=
n.395A=
c.493A= (p.Met165=)
c.247A= (p.Met83=)
19g.1398925G>ACA504895039GAMTc.561C>T (p.Ile187=)
c.244C>T
n.394C>T
c.492C>T (p.Ile164=)
c.246C>T (p.Ile82=)
 COSMIC COSMIC
19g.1398925G>CCA402994042GAMTc.561C>G (p.Ile187Met)
c.244C>G
n.394C>G
c.492C>G (p.Ile164Met)
c.246C>G (p.Ile82Met)
19g.1398925G>TCA504895041GAMTc.561C>A (p.Ile187=)
c.244C>A
n.394C>A
c.492C>A (p.Ile164=)
c.246C>A (p.Ile82=)
19g.1398926A=CA2317698996GAMTc.560T= (p.Ile187=)
c.243T=
n.393T=
c.491T= (p.Ile164=)
c.245T= (p.Ile82=)
19g.1398926A>CCA402994043GAMTc.560T>G (p.Ile187Ser)
c.243T>G
n.393T>G
c.491T>G (p.Ile164Ser)
c.245T>G (p.Ile82Ser)
19g.1398926A>GCA402994047GAMTc.560T>C (p.Ile187Thr)
c.243T>C
n.393T>C
c.491T>C (p.Ile164Thr)
c.245T>C (p.Ile82Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.1398926A>TCA402994050GAMTc.560T>A (p.Ile187Asn)
c.243T>A
n.393T>A
c.491T>A (p.Ile164Asn)
c.245T>A (p.Ile82Asn)
19g.1398927T>ACA402994052GAMTc.559A>T (p.Ile187Phe)
c.242A>T
n.392A>T
c.490A>T (p.Ile164Phe)
c.244A>T (p.Ile82Phe)
19g.1398927T>CCA402994055GAMTc.559A>G (p.Ile187Val)
c.242A>G
n.392A>G
c.490A>G (p.Ile164Val)
c.244A>G (p.Ile82Val)
 dbSNP gnomAD v4
19g.1398927T>GCA402994058GAMTc.559A>C (p.Ile187Leu)
c.242A>C
n.392A>C
c.490A>C (p.Ile164Leu)
c.244A>C (p.Ile82Leu)
19g.1398927T=CA2317698997GAMTc.559A= (p.Ile187=)
c.242A=
n.392A=
c.490A= (p.Ile164=)
c.244A= (p.Ile82=)
19g.1398928G>ACA504895044GAMTc.558C>T (p.Thr186=)
c.241C>T
n.391C>T
c.489C>T (p.Thr163=)
c.243C>T (p.Thr81=)
19g.1398928G>CCA9043612GAMTc.558C>G (p.Thr186=)
c.241C>G
n.391C>G
c.489C>G (p.Thr163=)
c.243C>G (p.Thr81=)
 dbSNP ExAC
19g.1398928G=CA2317698998GAMTc.558C= (p.Thr186=)
c.241C=
n.391C=
c.489C= (p.Thr163=)
c.243C= (p.Thr81=)
19g.1398928G>TCA504895047GAMTc.558C>A (p.Thr186=)
c.241C>A
n.391C>A
c.489C>A (p.Thr163=)
c.243C>A (p.Thr81=)
19g.1398929G>ACA402994074GAMTc.557C>T (p.Thr186Ile)
c.240C>T
n.390C>T
c.488C>T (p.Thr163Ile)
c.242C>T (p.Thr81Ile)
19g.1398929G>CCA402994079GAMTc.557C>G (p.Thr186Ser)
c.240C>G
n.390C>G
c.488C>G (p.Thr163Ser)
c.242C>G (p.Thr81Ser)
19g.1398929G>TCA402994082GAMTc.557C>A (p.Thr186Asn)
c.240C>A
n.390C>A
c.488C>A (p.Thr163Asn)
c.242C>A (p.Thr81Asn)
19g.1398930T>ACA402994092GAMTc.556A>T (p.Thr186Ser)
c.239A>T
n.389A>T
c.487A>T (p.Thr163Ser)
c.241A>T (p.Thr81Ser)
19g.1398930T>CCA402994088GAMTc.556A>G (p.Thr186Ala)
c.239A>G
n.389A>G
c.487A>G (p.Thr163Ala)
c.241A>G (p.Thr81Ala)
19g.1398930T>GCA402994087GAMTc.556A>C (p.Thr186Pro)
c.239A>C
n.389A>C
c.487A>C (p.Thr163Pro)
c.241A>C (p.Thr81Pro)
19g.1398931G>ACA504895050GAMTc.555C>T (p.Ile185=)
c.238C>T
n.388C>T
c.486C>T (p.Ile162=)
c.240C>T (p.Ile80=)
 ClinVar dbSNP
19g.1398931G>CCA402994095GAMTc.555C>G (p.Ile185Met)
c.238C>G
n.388C>G
c.486C>G (p.Ile162Met)
c.240C>G (p.Ile80Met)
19g.1398931G>TCA504895051GAMTc.555C>A (p.Ile185=)
c.238C>A
n.388C>A
c.486C>A (p.Ile162=)
c.240C>A (p.Ile80=)
19g.1398932A>CCA402994102GAMTc.554T>G (p.Ile185Ser)
c.237T>G
n.387T>G
c.485T>G (p.Ile162Ser)
c.239T>G (p.Ile80Ser)
19g.1398932A>GCA402994106GAMTc.554T>C (p.Ile185Thr)
c.237T>C
n.387T>C
c.485T>C (p.Ile162Thr)
c.239T>C (p.Ile80Thr)
19g.1398932A>TCA402994110GAMTc.554T>A (p.Ile185Asn)
c.237T>A
n.387T>A
c.485T>A (p.Ile162Asn)
c.239T>A (p.Ile80Asn)
19g.1398933T>ACA402994117GAMTc.553A>T (p.Ile185Phe)
c.236A>T
n.386A>T
c.484A>T (p.Ile162Phe)
c.238A>T (p.Ile80Phe)
19g.1398933T>CCA9043613GAMTc.553A>G (p.Ile185Val)
c.236A>G
n.386A>G
c.484A>G (p.Ile162Val)
c.238A>G (p.Ile80Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1398933T>GCA9043614GAMTc.553A>C (p.Ile185Leu)
c.236A>C
n.386A>C
c.484A>C (p.Ile162Leu)
c.238A>C (p.Ile80Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.1398933T=CA2317698999GAMTc.553A= (p.Ile185=)
c.236A=
n.386A=
c.484A= (p.Ile162=)
c.238A= (p.Ile80=)
19g.1398934G>ACA504895054GAMTc.552C>T (p.Asp184=)
c.235C>T
n.385C>T
c.483C>T (p.Asp161=)
c.237C>T (p.Asp79=)
 ClinVar gnomAD v4
19g.1398934G>CCA402994121GAMTc.552C>G (p.Asp184Glu)
c.235C>G
n.385C>G
c.483C>G (p.Asp161Glu)
c.237C>G (p.Asp79Glu)
19g.1398934G>TCA402994124GAMTc.552C>A (p.Asp184Glu)
c.235C>A
n.385C>A
c.483C>A (p.Asp161Glu)
c.237C>A (p.Asp79Glu)
19g.1398935T>ACA402994126GAMTc.551A>T (p.Asp184Val)
c.234A>T
n.384A>T
c.482A>T (p.Asp161Val)
c.236A>T (p.Asp79Val)
19g.1398935T>CCA402994135GAMTc.551A>G (p.Asp184Gly)
c.234A>G
n.384A>G
c.482A>G (p.Asp161Gly)
c.236A>G (p.Asp79Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.1398935T>GCA402994137GAMTc.551A>C (p.Asp184Ala)
c.234A>C
n.384A>C
c.482A>C (p.Asp161Ala)
c.236A>C (p.Asp79Ala)
19g.1398935T=CA2317699000GAMTc.551A= (p.Asp184=)
c.234A=
n.384A=
c.482A= (p.Asp161=)
c.236A= (p.Asp79=)
19g.1398936C>ACA402994146GAMTc.550G>T (p.Asp184Tyr)
c.233G>T
n.383G>T
c.481G>T (p.Asp161Tyr)
c.235G>T (p.Asp79Tyr)
19g.1398936C>GCA402994150GAMTc.550G>C (p.Asp184His)
c.233G>C
n.383G>C
c.481G>C (p.Asp161His)
c.235G>C (p.Asp79His)
19g.1398936C>TCA402994140GAMTc.550G>A (p.Asp184Asn)
c.233G>A
n.383G>A
c.481G>A (p.Asp161Asn)
c.235G>A (p.Asp79Asn)
19g.1398937T>ACA504895056GAMTc.549A>T (p.Ser183=)
c.232A>T
n.382A>T
c.480A>T (p.Ser160=)
c.234A>T (p.Ser78=)
19g.1398937T>CCA504895057GAMTc.549A>G (p.Ser183=)
c.232A>G
n.382A>G
c.480A>G (p.Ser160=)
c.234A>G (p.Ser78=)
 dbSNP
19g.1398937T>GCA504895059GAMTc.549A>C (p.Ser183=)
c.232A>C
n.382A>C
c.480A>C (p.Ser160=)
c.234A>C (p.Ser78=)
19g.1398938G>ACA402994152GAMTc.548C>T (p.Ser183Leu)
c.231C>T
n.381C>T
c.479C>T (p.Ser160Leu)
c.233C>T (p.Ser78Leu)
 dbSNP
19g.1398938G>CCA402994155GAMTc.548C>G (p.Ser183Ter)
c.231C>G
n.381C>G
c.479C>G (p.Ser160Ter)
c.233C>G (p.Ser78Ter)
19g.1398938G=CA2317699001GAMTc.548C= (p.Ser183=)
c.231C=
n.381C=
c.479C= (p.Ser160=)
c.233C= (p.Ser78=)
19g.1398938G>TCA402994156GAMTc.548C>A (p.Ser183Ter)
c.231C>A
n.381C>A
c.479C>A (p.Ser160Ter)
c.233C>A (p.Ser78Ter)
19g.1398939A>CCA402994160GAMTc.547T>G (p.Ser183Ala)
c.230T>G
n.380T>G
c.478T>G (p.Ser160Ala)
c.232T>G (p.Ser78Ala)
19g.1398939A>GCA402994163GAMTc.547T>C (p.Ser183Pro)
c.230T>C
n.380T>C
c.478T>C (p.Ser160Pro)
c.232T>C (p.Ser78Pro)
19g.1398939A>TCA402994176GAMTc.547T>A (p.Ser183Thr)
c.230T>A
n.380T>A
c.478T>A (p.Ser160Thr)
c.232T>A (p.Ser78Thr)
19g.1398940G>ACA504895062GAMTc.546C>T (p.Tyr182=)
c.229C>T
n.379C>T
c.477C>T (p.Tyr159=)
c.231C>T (p.Tyr77=)
19g.1398940G>CCA402994182GAMTc.546C>G (p.Tyr182Ter)
c.229C>G
n.379C>G
c.477C>G (p.Tyr159Ter)
c.231C>G (p.Tyr77Ter)
19g.1398940G>TCA402994184GAMTc.546C>A (p.Tyr182Ter)
c.229C>A
n.379C>A
c.477C>A (p.Tyr159Ter)
c.231C>A (p.Tyr77Ter)
19g.1398941T>ACA402994187GAMTc.545A>T (p.Tyr182Phe)
c.228A>T
n.378A>T
c.476A>T (p.Tyr159Phe)
c.230A>T (p.Tyr77Phe)
19g.1398941T>CCA402994188GAMTc.545A>G (p.Tyr182Cys)
c.228A>G
n.378A>G
c.476A>G (p.Tyr159Cys)
c.230A>G (p.Tyr77Cys)
19g.1398941T>GCA402994189GAMTc.545A>C (p.Tyr182Ser)
c.228A>C
n.378A>C
c.476A>C (p.Tyr159Ser)
c.230A>C (p.Tyr77Ser)
19g.1398942A>CCA402994190GAMTc.544T>G (p.Tyr182Asp)
c.227T>G
n.377T>G
c.475T>G (p.Tyr159Asp)
c.229T>G (p.Tyr77Asp)
19g.1398942A>GCA402994191GAMTc.544T>C (p.Tyr182His)
c.227T>C
n.377T>C
c.475T>C (p.Tyr159His)
c.229T>C (p.Tyr77His)
19g.1398942A>TCA402994194GAMTc.544T>A (p.Tyr182Asn)
c.227T>A
n.377T>A
c.475T>A (p.Tyr159Asn)
c.229T>A (p.Tyr77Asn)
19g.1398943C>ACA402994209GAMTc.543G>T (p.Lys181Asn)
c.226G>T
n.376G>T
c.474G>T (p.Lys158Asn)
c.228G>T (p.Lys76Asn)
19g.1398943C>GCA402994206GAMTc.543G>C (p.Lys181Asn)
c.226G>C
n.376G>C
c.474G>C (p.Lys158Asn)
c.228G>C (p.Lys76Asn)
19g.1398943C>TCA504895067GAMTc.543G>A (p.Lys181=)
c.226G>A
n.376G>A
c.474G>A (p.Lys158=)
c.228G>A (p.Lys76=)
 ClinVar dbSNP gnomAD v4
19g.1398944T>ACA402994211GAMTc.542A>T (p.Lys181Met)
c.225A>T
n.375A>T
c.473A>T (p.Lys158Met)
c.227A>T (p.Lys76Met)
19g.1398944T>CCA402994219GAMTc.542A>G (p.Lys181Arg)
c.225A>G
n.375A>G
c.473A>G (p.Lys158Arg)
c.227A>G (p.Lys76Arg)
19g.1398944T>GCA402994223GAMTc.542A>C (p.Lys181Thr)
c.225A>C
n.375A>C
c.473A>C (p.Lys158Thr)
c.227A>C (p.Lys76Thr)
19g.1398945T>ACA402994230GAMTc.541A>T (p.Lys181Ter)
c.224A>T
n.374A>T
c.472A>T (p.Lys158Ter)
c.226A>T (p.Lys76Ter)
19g.1398945T>CCA402994232GAMTc.541A>G (p.Lys181Glu)
c.224A>G
n.374A>G
c.472A>G (p.Lys158Glu)
c.226A>G (p.Lys76Glu)
19g.1398945T>GCA402994235GAMTc.541A>C (p.Lys181Gln)
c.224A>C
n.374A>C
c.472A>C (p.Lys158Gln)
c.226A>C (p.Lys76Gln)
19g.1398946G>ACA504895072GAMTc.540C>T (p.Ser180=)
c.223C>T
n.373C>T
c.471C>T (p.Ser157=)
c.225C>T (p.Ser75=)
 ClinVar dbSNP
19g.1398946G>CCA504895074GAMTc.540C>G (p.Ser180=)
c.223C>G
n.373C>G
c.471C>G (p.Ser157=)
c.225C>G (p.Ser75=)
19g.1398946G>TCA504895073GAMTc.540C>A (p.Ser180=)
c.223C>A
n.373C>A
c.471C>A (p.Ser157=)
c.225C>A (p.Ser75=)
19g.1398947G>ACA402994244GAMTc.539C>T (p.Ser180Phe)
c.222C>T
n.372C>T
c.470C>T (p.Ser157Phe)
c.224C>T (p.Ser75Phe)
 gnomAD v4
19g.1398947G>CCA402994237GAMTc.539C>G (p.Ser180Cys)
c.222C>G
n.372C>G
c.470C>G (p.Ser157Cys)
c.224C>G (p.Ser75Cys)
19g.1398947G>TCA402994241GAMTc.539C>A (p.Ser180Tyr)
c.222C>A
n.372C>A
c.470C>A (p.Ser157Tyr)
c.224C>A (p.Ser75Tyr)
19g.1398948A>CCA402994247GAMTc.538T>G (p.Ser180Ala)
c.221T>G
n.371T>G
c.469T>G (p.Ser157Ala)
c.223T>G (p.Ser75Ala)
19g.1398948A>GCA402994248GAMTc.538T>C (p.Ser180Pro)
c.221T>C
n.371T>C
c.469T>C (p.Ser157Pro)
c.223T>C (p.Ser75Pro)
19g.1398948A>TCA402994250GAMTc.538T>A (p.Ser180Thr)
c.221T>A
n.371T>A
c.469T>A (p.Ser157Thr)
c.223T>A (p.Ser75Thr)
19g.1398949C>ACA402994252GAMTc.537G>T (p.Lys179Asn)
c.220G>T
n.370G>T
c.468G>T (p.Lys156Asn)
c.222G>T (p.Lys74Asn)
19g.1398949C>GCA402994254GAMTc.537G>C (p.Lys179Asn)
c.220G>C
n.370G>C
c.468G>C (p.Lys156Asn)
c.222G>C (p.Lys74Asn)
 gnomAD v4
19g.1398949C>TCA504895081GAMTc.537G>A (p.Lys179=)
c.220G>A
n.370G>A
c.468G>A (p.Lys156=)
c.222G>A (p.Lys74=)
 ClinVar dbSNP
19g.1398950T>ACA402994264GAMTc.536A>T (p.Lys179Met)
c.219A>T
n.369A>T
c.467A>T (p.Lys156Met)
c.221A>T (p.Lys74Met)
19g.1398950T>CCA402994255GAMTc.536A>G (p.Lys179Arg)
c.219A>G
n.369A>G
c.467A>G (p.Lys156Arg)
c.221A>G (p.Lys74Arg)
19g.1398950T>GCA402994258GAMTc.536A>C (p.Lys179Thr)
c.219A>C
n.369A>C
c.467A>C (p.Lys156Thr)
c.221A>C (p.Lys74Thr)
19g.1398951delCA2573155786GAMTc.536del (p.Lys179SerfsTer?)
c.219del
n.369del
c.467del (p.Lys156SerfsTer?)
c.221del (p.Lys74SerfsTer?)
 ClinVar dbSNP
19g.1398950_1398953delinsTTCACA2317699002GAMTc.533_536delinsTGAA (p.Met178=)
c.216_219delinsTGAA
n.366_369delinsTGAA
c.464_467delinsTGAA (p.Met155=)
c.218_221delinsTGAA (p.Met73=)
19g.1398951T>ACA402994266GAMTc.535A>T (p.Lys179Ter)
c.218A>T
n.368A>T
c.466A>T (p.Lys156Ter)
c.220A>T (p.Lys74Ter)
19g.1398951T>CCA402994269GAMTc.535A>G (p.Lys179Glu)
c.218A>G
n.368A>G
c.466A>G (p.Lys156Glu)
c.220A>G (p.Lys74Glu)
19g.1398951T>GCA402994274GAMTc.535A>C (p.Lys179Gln)
c.218A>C
n.368A>C
c.466A>C (p.Lys156Gln)
c.220A>C (p.Lys74Gln)
19g.1398954_1398956delCA304065927GAMTc.533_535del (p.Met178del)
c.216_218del
n.366_368del
c.464_466del (p.Met155del)
c.218_220del (p.Met73del)
 dbSNP gnomAD v2 gnomAD v4
19g.1398952C>ACA402994276GAMTc.534G>T (p.Met178Ile)
c.217G>T
n.367G>T
c.465G>T (p.Met155Ile)
c.219G>T (p.Met73Ile)
 dbSNP
19g.1398952C=CA2317699003GAMTc.534G= (p.Met178=)
c.217G=
n.367G=
c.465G= (p.Met155=)
c.219G= (p.Met73=)
19g.1398952C>GCA402994278GAMTc.534G>C (p.Met178Ile)
c.217G>C
n.367G>C
c.465G>C (p.Met155Ile)
c.219G>C (p.Met73Ile)
19g.1398952C>TCA402994280GAMTc.534G>A (p.Met178Ile)
c.217G>A
n.367G>A
c.465G>A (p.Met155Ile)
c.219G>A (p.Met73Ile)
 gnomAD v4
19g.1398952dupCA2573155787GAMTc.534dup (p.Lys179GlufsTer12)
c.217dup
n.367dup
c.465dup (p.Lys156GlufsTer12)
c.219dup (p.Lys74GlufsTer12)
 ClinVar dbSNP
19g.1398953A>CCA402994284GAMTc.533T>G (p.Met178Arg)
c.216T>G
n.366T>G
c.464T>G (p.Met155Arg)
c.218T>G (p.Met73Arg)
 gnomAD v4
19g.1398953A>GCA402994282GAMTc.533T>C (p.Met178Thr)
c.216T>C
n.366T>C
c.464T>C (p.Met155Thr)
c.218T>C (p.Met73Thr)
 gnomAD v4
19g.1398953A>TCA402994281GAMTc.533T>A (p.Met178Lys)
c.216T>A
n.366T>A
c.464T>A (p.Met155Lys)
c.218T>A (p.Met73Lys)
19g.1398954T>ACA402994286GAMTc.532A>T (p.Met178Leu)
c.215A>T
n.365A>T
c.463A>T (p.Met155Leu)
c.217A>T (p.Met73Leu)
19g.1398954T>CCA402994288GAMTc.532A>G (p.Met178Val)
c.215A>G
n.365A>G
c.463A>G (p.Met155Val)
c.217A>G (p.Met73Val)
19g.1398954T>GCA402994291GAMTc.532A>C (p.Met178Leu)
c.215A>C
n.365A>C
c.463A>C (p.Met155Leu)
c.217A>C (p.Met73Leu)
19g.1398955C>ACA504895086GAMTc.531G>T (p.Leu177=)
c.214G>T
n.364G>T
c.462G>T (p.Leu154=)
c.216G>T (p.Leu72=)
19g.1398955C>GCA504895087GAMTc.531G>C (p.Leu177=)
c.214G>C
n.364G>C
c.462G>C (p.Leu154=)
c.216G>C (p.Leu72=)
19g.1398955C>TCA504895089GAMTc.531G>A (p.Leu177=)
c.214G>A
n.364G>A
c.462G>A (p.Leu154=)
c.216G>A (p.Leu72=)
 ClinVar dbSNP
19g.1398956A=CA2317699004GAMTc.530T= (p.Leu177=)
c.213T=
n.363T=
c.461T= (p.Leu154=)
c.215T= (p.Leu72=)
19g.1398956A>CCA402994301GAMTc.530T>G (p.Leu177Arg)
c.213T>G
n.363T>G
c.461T>G (p.Leu154Arg)
c.215T>G (p.Leu72Arg)
 ClinVar dbSNP
19g.1398956A>GCA402994306GAMTc.530T>C (p.Leu177Pro)
c.213T>C
n.363T>C
c.461T>C (p.Leu154Pro)
c.215T>C (p.Leu72Pro)
19g.1398956A>TCA402994308GAMTc.530T>A (p.Leu177Gln)
c.213T>A
n.363T>A
c.461T>A (p.Leu154Gln)
c.215T>A (p.Leu72Gln)
19g.1398957G>ACA9043615GAMTc.529C>T (p.Leu177=)
c.212C>T
n.362C>T
c.460C>T (p.Leu154=)
c.214C>T (p.Leu72=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1398957G>CCA402994325GAMTc.529C>G (p.Leu177Val)
c.212C>G
n.362C>G
c.460C>G (p.Leu154Val)
c.214C>G (p.Leu72Val)
 ClinVar dbSNP
19g.1398957G=CA2317699005GAMTc.529C= (p.Leu177=)
c.212C=
n.362C=
c.460C= (p.Leu154=)
c.214C= (p.Leu72=)
19g.1398957G>TCA402994323GAMTc.529C>A (p.Leu177Met)
c.212C>A
n.362C>A
c.460C>A (p.Leu154Met)
c.214C>A (p.Leu72Met)
19g.1398958C>ACA402994326GAMTc.528G>T (p.Glu176Asp)
c.211G>T
n.361G>T
c.459G>T (p.Glu153Asp)
c.213G>T (p.Glu71Asp)
19g.1398958C>GCA402994327GAMTc.528G>C (p.Glu176Asp)
c.211G>C
n.361G>C
c.459G>C (p.Glu153Asp)
c.213G>C (p.Glu71Asp)
19g.1398958C>TCA504895091GAMTc.528G>A (p.Glu176=)
c.211G>A
n.361G>A
c.459G>A (p.Glu153=)
c.213G>A (p.Glu71=)
 gnomAD v4
19g.1398959T>ACA402994328GAMTc.527A>T (p.Glu176Val)
c.210A>T
n.360A>T
c.458A>T (p.Glu153Val)
c.212A>T (p.Glu71Val)
19g.1398959T>CCA402994329GAMTc.527A>G (p.Glu176Gly)
c.210A>G
n.360A>G
c.458A>G (p.Glu153Gly)
c.212A>G (p.Glu71Gly)
 ClinVar gnomAD v4
19g.1398959T>GCA314818GAMTc.527A>C (p.Glu176Ala)
c.210A>C
n.360A>C
c.458A>C (p.Glu153Ala)
c.212A>C (p.Glu71Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.1398959T=CA2317699006GAMTc.527A= (p.Glu176=)
c.210A=
n.360A=
c.458A= (p.Glu153=)
c.212A= (p.Glu71=)
19g.1398960C>ACA314816GAMTc.526G>T (p.Glu176Ter)
c.209G>T
n.359G>T
c.457G>T (p.Glu153Ter)
c.211G>T (p.Glu71Ter)
 ClinVar dbSNP gnomAD v4
19g.1398960C=CA2317699007GAMTc.526G= (p.Glu176=)
c.209G=
n.359G=
c.457G= (p.Glu153=)
c.211G= (p.Glu71=)
19g.1398960C>GCA402994331GAMTc.526G>C (p.Glu176Gln)
c.209G>C
n.359G>C
c.457G>C (p.Glu153Gln)
c.211G>C (p.Glu71Gln)
19g.1398960C>TCA402994336GAMTc.526G>A (p.Glu176Lys)
c.209G>A
n.359G>A
c.457G>A (p.Glu153Lys)
c.211G>A (p.Glu71Lys)
 dbSNP gnomAD v2 gnomAD v4
19g.1398965dupCA913184710GAMTc.526dup (p.Glu176GlyfsTer15)
c.209dup
n.359dup
c.457dup (p.Glu153GlyfsTer15)
c.211dup (p.Glu71GlyfsTer15)
 ClinVar dbSNP gnomAD v4
19g.1398965delCA2499225402GAMTc.526del (p.Glu176SerfsTer2)
c.209del
n.359del
c.457del (p.Glu153SerfsTer2)
c.211del (p.Glu71SerfsTer2)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.1398961C>ACA504895097GAMTc.525G>T (p.Gly175=)
c.208G>T
n.358G>T
c.456G>T (p.Gly152=)
c.210G>T (p.Gly70=)
 gnomAD v4
19g.1398961C>GCA504895098GAMTc.525G>C (p.Gly175=)
c.208G>C
n.358G>C
c.456G>C (p.Gly152=)
c.210G>C (p.Gly70=)
 ClinVar dbSNP
19g.1398961C>TCA504895095GAMTc.525G>A (p.Gly175=)
c.208G>A
n.358G>A
c.456G>A (p.Gly152=)
c.210G>A (p.Gly70=)
 ClinVar dbSNP
19g.1398962C>ACA402994343GAMTc.524G>T (p.Gly175Val)
c.207G>T
n.357G>T
c.455G>T (p.Gly152Val)
c.209G>T (p.Gly70Val)
19g.1398962C=CA2317699008GAMTc.524G= (p.Gly175=)
c.207G=
n.357G=
c.455G= (p.Gly152=)
c.209G= (p.Gly70=)
19g.1398962C>GCA402994344GAMTc.524G>C (p.Gly175Ala)
c.207G>C
n.357G>C
c.455G>C (p.Gly152Ala)
c.209G>C (p.Gly70Ala)
19g.1398962C>TCA402994348GAMTc.524G>A (p.Gly175Glu)
c.207G>A
n.357G>A
c.455G>A (p.Gly152Glu)
c.209G>A (p.Gly70Glu)
 dbSNP COSMIC COSMIC
19g.1398963C>ACA402994349GAMTc.523G>T (p.Gly175Trp)
c.206G>T
n.356G>T
c.454G>T (p.Gly152Trp)
c.208G>T (p.Gly70Trp)
 ClinVar dbSNP
19g.1398963C=CA2317699009GAMTc.523G= (p.Gly175=)
c.206G=
n.356G=
c.454G= (p.Gly152=)
c.208G= (p.Gly70=)
19g.1398963C>GCA314814GAMTc.523G>C (p.Gly175Arg)
c.206G>C
n.356G>C
c.454G>C (p.Gly152Arg)
c.208G>C (p.Gly70Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.1398963C>TCA9043616GAMTc.523G>A (p.Gly175Arg)
c.206G>A
n.356G>A
c.454G>A (p.Gly152Arg)
c.208G>A (p.Gly70Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1398964C>ACA402994362GAMTc.522G>T (p.Trp174Cys)
c.205G>T
n.355G>T
c.453G>T (p.Trp151Cys)
c.207G>T (p.Trp69Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.1398964C=CA2317699010GAMTc.522G= (p.Trp174=)
c.205G=
n.355G=
c.453G= (p.Trp151=)
c.207G= (p.Trp69=)
19g.1398964C>GCA402994365GAMTc.522G>C (p.Trp174Cys)
c.205G>C
n.355G>C
c.453G>C (p.Trp151Cys)
c.207G>C (p.Trp69Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1398964C>TCA314812GAMTc.522G>A (p.Trp174Ter)
c.205G>A
n.355G>A
c.453G>A (p.Trp151Ter)
c.207G>A (p.Trp69Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1398965C>ACA9043618GAMTc.521G>T (p.Trp174Leu)
c.204G>T
n.354G>T
c.452G>T (p.Trp151Leu)
c.206G>T (p.Trp69Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1398965C=CA2317699011GAMTc.521G= (p.Trp174=)
c.204G=
n.354G=
c.452G= (p.Trp151=)
c.206G= (p.Trp69=)
19g.1398965C>GCA402994371GAMTc.521G>C (p.Trp174Ser)
c.204G>C
n.354G>C
c.452G>C (p.Trp151Ser)
c.206G>C (p.Trp69Ser)
19g.1398965C>TCA9043619GAMTc.521G>A (p.Trp174Ter)
c.204G>A
n.354G>A
c.452G>A (p.Trp151Ter)
c.206G>A (p.Trp69Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1398970_1398971insATGAGGTTGCAGGAGCA2576548646GAMTc.521_522insCAACCTCATCTCCTG (p.Ser173_Trp174insCysAsnLeuIleSer)
c.204_205insCAACCTCATCTCCTG
n.354_355insCAACCTCATCTCCTG
c.452_453insCAACCTCATCTCCTG (p.Ser150_Trp151insCysAsnLeuIleSer)
c.206_207insCAACCTCATCTCCTG (p.Ser68_Trp69insCysAsnLeuIleSer)
 gnomAD v4
19g.1398968_1398982dupCA9043617GAMTc.507_521dup (p.Ser173_Trp174insCysAsnLeuThrSer)
c.190_204dup
n.340_354dup
c.438_452dup (p.Ser150_Trp151insCysAsnLeuThrSer)
c.192_206dup (p.Ser68_Trp69insCysAsnLeuThrSer)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1398966A=CA2317699012GAMTc.520T= (p.Trp174=)
c.203T=
n.353T=
c.451T= (p.Trp151=)
c.205T= (p.Trp69=)
19g.1398966A>CCA402994377GAMTc.520T>G (p.Trp174Gly)
c.203T>G
n.353T>G
c.451T>G (p.Trp151Gly)
c.205T>G (p.Trp69Gly)
19g.1398966A>GCA304065950GAMTc.520T>C (p.Trp174Arg)
c.203T>C
n.353T>C
c.451T>C (p.Trp151Arg)
c.205T>C (p.Trp69Arg)
 ClinVar dbSNP gnomAD v4
19g.1398966A>TCA402994393GAMTc.520T>A (p.Trp174Arg)
c.203T>A
n.353T>A
c.451T>A (p.Trp151Arg)
c.205T>A (p.Trp69Arg)
 dbSNP
19g.1398969_1398971delCA2570803087GAMTc.518_520del (p.Ser173del)
c.201_203del
n.351_353del
c.449_451del (p.Ser150del)
c.203_205del (p.Ser68del)
19g.1398967G>ACA504895104GAMTc.519C>T (p.Ser173=)
c.202C>T
n.352C>T
c.450C>T (p.Ser150=)
c.204C>T (p.Ser68=)
 ClinVar gnomAD v4
19g.1398967G>CCA504895105GAMTc.519C>G (p.Ser173=)
c.202C>G
n.352C>G
c.450C>G (p.Ser150=)
c.204C>G (p.Ser68=)
19g.1398967G>TCA504895106GAMTc.519C>A (p.Ser173=)
c.202C>A
n.352C>A
c.450C>A (p.Ser150=)
c.204C>A (p.Ser68=)
19g.1398968G>ACA402994401GAMTc.518C>T (p.Ser173Phe)
c.201C>T
n.351C>T
c.449C>T (p.Ser150Phe)
c.203C>T (p.Ser68Phe)
 ClinVar dbSNP COSMIC COSMIC
19g.1398968G>CCA402994405GAMTc.518C>G (p.Ser173Cys)
c.201C>G
n.351C>G
c.449C>G (p.Ser150Cys)
c.203C>G (p.Ser68Cys)
19g.1398968G>TCA402994407GAMTc.518C>A (p.Ser173Tyr)
c.201C>A
n.351C>A
c.449C>A (p.Ser150Tyr)
c.203C>A (p.Ser68Tyr)
19g.1398969A=CA2317699013GAMTc.517T= (p.Ser173=)
c.200T=
n.350T=
c.448T= (p.Ser150=)
c.202T= (p.Ser68=)
19g.1398969A>CCA402994408GAMTc.517T>G (p.Ser173Ala)
c.200T>G
n.350T>G
c.448T>G (p.Ser150Ala)
c.202T>G (p.Ser68Ala)
19g.1398969A>GCA402994410GAMTc.517T>C (p.Ser173Pro)
c.200T>C
n.350T>C
c.448T>C (p.Ser150Pro)
c.202T>C (p.Ser68Pro)
19g.1398969A>TCA304065958GAMTc.517T>A (p.Ser173Thr)
c.200T>A
n.350T>A
c.448T>A (p.Ser150Thr)
c.202T>A (p.Ser68Thr)
 dbSNP gnomAD v4
19g.1398977_1398991delCA2697555584GAMTc.503_517del (p.Tyr168_Thr172del)
c.186_200del
n.336_350del
c.434_448del (p.Tyr145_Thr149del)
c.188_202del (p.Tyr63_Thr67del)
 ClinVar
19g.1398970G>ACA504895113GAMTc.516C>T (p.Thr172=)
c.199C>T
n.349C>T
c.447C>T (p.Thr149=)
c.201C>T (p.Thr67=)
 ClinVar dbSNP
19g.1398970G>CCA504895114GAMTc.516C>G (p.Thr172=)
c.199C>G
n.349C>G
c.447C>G (p.Thr149=)
c.201C>G (p.Thr67=)
19g.1398970G>TCA504895115GAMTc.516C>A (p.Thr172=)
c.199C>A
n.349C>A
c.447C>A (p.Thr149=)
c.201C>A (p.Thr67=)
 ClinVar dbSNP gnomAD v4
19g.1398971G>ACA9043620GAMTc.515C>T (p.Thr172Ile)
c.198C>T
n.348C>T
c.446C>T (p.Thr149Ile)
c.200C>T (p.Thr67Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1398971G>CCA402994422GAMTc.515C>G (p.Thr172Ser)
c.198C>G
n.348C>G
c.446C>G (p.Thr149Ser)
c.200C>G (p.Thr67Ser)
19g.1398971G=CA2317699014GAMTc.515C= (p.Thr172=)
c.198C=
n.348C=
c.446C= (p.Thr149=)
c.200C= (p.Thr67=)
19g.1398971G>TCA402994416GAMTc.515C>A (p.Thr172Asn)
c.198C>A
n.348C>A
c.446C>A (p.Thr149Asn)
c.200C>A (p.Thr67Asn)
 gnomAD v4
19g.1398972T>ACA402994439GAMTc.514A>T (p.Thr172Ser)
c.197A>T
n.347A>T
c.445A>T (p.Thr149Ser)
c.199A>T (p.Thr67Ser)
19g.1398972T>CCA402994442GAMTc.514A>G (p.Thr172Ala)
c.197A>G
n.347A>G
c.445A>G (p.Thr149Ala)
c.199A>G (p.Thr67Ala)
 gnomAD v4
19g.1398972T>GCA402994446GAMTc.514A>C (p.Thr172Pro)
c.197A>C
n.347A>C
c.445A>C (p.Thr149Pro)
c.199A>C (p.Thr67Pro)
19g.1398973G>ACA504895121GAMTc.513C>T (p.Leu171=)
c.196C>T
n.346C>T
c.444C>T (p.Leu148=)
c.198C>T (p.Leu66=)
 ClinVar dbSNP gnomAD v4
19g.1398973G>CCA504895122GAMTc.513C>G (p.Leu171=)
c.196C>G
n.346C>G
c.444C>G (p.Leu148=)
c.198C>G (p.Leu66=)
19g.1398973G=CA2317699015GAMTc.513C= (p.Leu171=)
c.196C=
n.346C=
c.444C= (p.Leu148=)
c.198C= (p.Leu66=)
19g.1398973G>TCA9043621GAMTc.513C>A (p.Leu171=)
c.196C>A
n.346C>A
c.444C>A (p.Leu148=)
c.198C>A (p.Leu66=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1398974A>CCA402994467GAMTc.512T>G (p.Leu171Arg)
c.195T>G
n.345T>G
c.443T>G (p.Leu148Arg)
c.197T>G (p.Leu66Arg)
19g.1398974A>GCA402994470GAMTc.512T>C (p.Leu171Pro)
c.195T>C
n.345T>C
c.443T>C (p.Leu148Pro)
c.197T>C (p.Leu66Pro)
19g.1398974A>TCA402994473GAMTc.512T>A (p.Leu171His)
c.195T>A
n.345T>A
c.443T>A (p.Leu148His)
c.197T>A (p.Leu66His)
19g.1398975G>ACA402994476GAMTc.511C>T (p.Leu171Phe)
c.194C>T
n.344C>T
c.442C>T (p.Leu148Phe)
c.196C>T (p.Leu66Phe)
19g.1398975G>CCA314810GAMTc.511C>G (p.Leu171Val)
c.194C>G
n.344C>G
c.442C>G (p.Leu148Val)
c.196C>G (p.Leu66Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.1398975G=CA2317699016GAMTc.511C= (p.Leu171=)
c.194C=
n.344C=
c.442C= (p.Leu148=)
c.196C= (p.Leu66=)
19g.1398975G>TCA402994488GAMTc.511C>A (p.Leu171Ile)
c.194C>A
n.344C>A
c.442C>A (p.Leu148Ile)
c.196C>A (p.Leu66Ile)
19g.1398976_1398979delCA2582641065GAMTc.508_511del (p.Asn170SerfsTer7)
c.191_194del
n.341_344del
c.439_442del (p.Asn147SerfsTer7)
c.193_196del (p.Asn65SerfsTer7)
 gnomAD v4
19g.1398976G>ACA504895129GAMTc.510C>T (p.Asn170=)
c.193C>T
n.343C>T
c.441C>T (p.Asn147=)
c.195C>T (p.Asn65=)
 gnomAD v4
19g.1398976G>CCA402994499GAMTc.510C>G (p.Asn170Lys)
c.193C>G
n.343C>G
c.441C>G (p.Asn147Lys)
c.195C>G (p.Asn65Lys)
19g.1398976G>TCA402994496GAMTc.510C>A (p.Asn170Lys)
c.193C>A
n.343C>A
c.441C>A (p.Asn147Lys)
c.195C>A (p.Asn65Lys)
19g.1398977T>ACA402994501GAMTc.509A>T (p.Asn170Ile)
c.192A>T
n.342A>T
c.440A>T (p.Asn147Ile)
c.194A>T (p.Asn65Ile)
 dbSNP gnomAD v3 gnomAD v4
19g.1398977T>CCA9043622GAMTc.509A>G (p.Asn170Ser)
c.192A>G
n.342A>G
c.440A>G (p.Asn147Ser)
c.194A>G (p.Asn65Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1398977T>GCA9043623GAMTc.509A>C (p.Asn170Thr)
c.192A>C
n.342A>C
c.440A>C (p.Asn147Thr)
c.194A>C (p.Asn65Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1398977T=CA2317699017GAMTc.509A= (p.Asn170=)
c.192A=
n.342A=
c.440A= (p.Asn147=)
c.194A= (p.Asn65=)
19g.1398978T>ACA402994503GAMTc.508A>T (p.Asn170Tyr)
c.191A>T
n.341A>T
c.439A>T (p.Asn147Tyr)
c.193A>T (p.Asn65Tyr)
19g.1398978T>CCA402994506GAMTc.508A>G (p.Asn170Asp)
c.191A>G
n.341A>G
c.439A>G (p.Asn147Asp)
c.193A>G (p.Asn65Asp)
 COSMIC COSMIC
19g.1398978T>GCA402994509GAMTc.508A>C (p.Asn170His)
c.191A>C
n.341A>C
c.439A>C (p.Asn147His)
c.193A>C (p.Asn65His)
19g.1398979G>ACA504895133GAMTc.507C>T (p.Cys169=)
c.190C>T
n.340C>T
c.438C>T (p.Cys146=)
c.192C>T (p.Cys64=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.1398979G>CCA402994512GAMTc.507C>G (p.Cys169Trp)
c.190C>G
n.340C>G
c.438C>G (p.Cys146Trp)
c.192C>G (p.Cys64Trp)
19g.1398979G=CA2317699018GAMTc.507C= (p.Cys169=)
c.190C=
n.340C=
c.438C= (p.Cys146=)
c.192C= (p.Cys64=)
19g.1398979G>TCA402994514GAMTc.507C>A (p.Cys169Ter)
c.190C>A
n.340C>A
c.438C>A (p.Cys146Ter)
c.192C>A (p.Cys64Ter)
19g.1398980C>ACA402994521GAMTc.506G>T (p.Cys169Phe)
c.189G>T
n.339G>T
c.437G>T (p.Cys146Phe)
c.191G>T (p.Cys64Phe)
19g.1398980C=CA2317699019GAMTc.506G= (p.Cys169=)
c.189G=
n.339G=
c.437G= (p.Cys146=)
c.191G= (p.Cys64=)
19g.1398980C>GCA402994524GAMTc.506G>C (p.Cys169Ser)
c.189G>C
n.339G>C
c.437G>C (p.Cys146Ser)
c.191G>C (p.Cys64Ser)
19g.1398980C>TCA254379GAMTc.506G>A (p.Cys169Tyr)
c.189G>A
n.339G>A
c.437G>A (p.Cys146Tyr)
c.191G>A (p.Cys64Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.1398981A=CA2317699020GAMTc.505T= (p.Cys169=)
c.188T=
n.338T=
c.436T= (p.Cys146=)
c.190T= (p.Cys64=)
19g.1398981A>CCA402994532GAMTc.505T>G (p.Cys169Gly)
c.188T>G
n.338T>G
c.436T>G (p.Cys146Gly)
c.190T>G (p.Cys64Gly)
19g.1398981A>GCA402994533GAMTc.505T>C (p.Cys169Arg)
c.188T>C
n.338T>C
c.436T>C (p.Cys146Arg)
c.190T>C (p.Cys64Arg)
 ClinVar dbSNP gnomAD v4
19g.1398981A>TCA402994534GAMTc.505T>A (p.Cys169Ser)
c.188T>A
n.338T>A
c.436T>A (p.Cys146Ser)
c.190T>A (p.Cys64Ser)
19g.1398982G>ACA504895137GAMTc.504C>T (p.Tyr168=)
c.187C>T
n.337C>T
c.435C>T (p.Tyr145=)
c.189C>T (p.Tyr63=)
19g.1398982G>CCA402994535GAMTc.504C>G (p.Tyr168Ter)
c.187C>G
n.337C>G
c.435C>G (p.Tyr145Ter)
c.189C>G (p.Tyr63Ter)
 ClinVar dbSNP
19g.1398982G=CA2317699021GAMTc.504C= (p.Tyr168=)
c.187C=
n.337C=
c.435C= (p.Tyr145=)
c.189C= (p.Tyr63=)
19g.1398982G>TCA402994536GAMTc.504C>A (p.Tyr168Ter)
c.187C>A
n.337C>A
c.435C>A (p.Tyr145Ter)
c.189C>A (p.Tyr63Ter)
19g.1398983T>ACA402994537GAMTc.503A>T (p.Tyr168Phe)
c.186A>T
n.336A>T
c.434A>T (p.Tyr145Phe)
c.188A>T (p.Tyr63Phe)
 gnomAD v4
19g.1398983T>CCA402994538GAMTc.503A>G (p.Tyr168Cys)
c.186A>G
n.336A>G
c.434A>G (p.Tyr145Cys)
c.188A>G (p.Tyr63Cys)
19g.1398983T>GCA402994540GAMTc.503A>C (p.Tyr168Ser)
c.186A>C
n.336A>C
c.434A>C (p.Tyr145Ser)
c.188A>C (p.Tyr63Ser)
 ClinVar dbSNP gnomAD v4
19g.1398983T=CA2317699022GAMTc.503A= (p.Tyr168=)
c.186A=
n.336A=
c.434A= (p.Tyr145=)
c.188A= (p.Tyr63=)
19g.1398984A>CCA402994545GAMTc.502T>G (p.Tyr168Asp)
c.185T>G
n.335T>G
c.433T>G (p.Tyr145Asp)
c.187T>G (p.Tyr63Asp)
19g.1398984A>GCA402994548GAMTc.502T>C (p.Tyr168His)
c.185T>C
n.335T>C
c.433T>C (p.Tyr145His)
c.187T>C (p.Tyr63His)
19g.1398984A>TCA402994556GAMTc.502T>A (p.Tyr168Asn)
c.185T>A
n.335T>A
c.433T>A (p.Tyr145Asn)
c.187T>A (p.Tyr63Asn)
19g.1398985G>ACA504895140GAMTc.501C>T (p.Thr167=)
c.184C>T
n.334C>T
c.432C>T (p.Thr144=)
c.186C>T (p.Thr62=)
 dbSNP gnomAD v3 gnomAD v4
19g.1398985G>CCA504895141GAMTc.501C>G (p.Thr167=)
c.184C>G
n.334C>G
c.432C>G (p.Thr144=)
c.186C>G (p.Thr62=)
19g.1398985G=CA2317699023GAMTc.501C= (p.Thr167=)
c.184C=
n.334C=
c.432C= (p.Thr144=)
c.186C= (p.Thr62=)
19g.1398985G>TCA504895142GAMTc.501C>A (p.Thr167=)
c.184C>A
n.334C>A
c.432C>A (p.Thr144=)
c.186C>A (p.Thr62=)
 dbSNP
19g.1398986G>ACA304065967GAMTc.500C>T (p.Thr167Ile)
c.183C>T
n.333C>T
c.431C>T (p.Thr144Ile)
c.185C>T (p.Thr62Ile)
 dbSNP gnomAD v3 gnomAD v4
19g.1398986G>CCA9043624GAMTc.500C>G (p.Thr167Ser)
c.183C>G
n.333C>G
c.431C>G (p.Thr144Ser)
c.185C>G (p.Thr62Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1398986G=CA2317699024GAMTc.500C= (p.Thr167=)
c.183C=
n.333C=
c.431C= (p.Thr144=)
c.185C= (p.Thr62=)
19g.1398986G>TCA402994559GAMTc.500C>A (p.Thr167Asn)
c.183C>A
n.333C>A
c.431C>A (p.Thr144Asn)
c.185C>A (p.Thr62Asn)
19g.1398987T>ACA402994562GAMTc.499A>T (p.Thr167Ser)
c.182A>T
n.332A>T
c.430A>T (p.Thr144Ser)
c.184A>T (p.Thr62Ser)
19g.1398987T>CCA402994563GAMTc.499A>G (p.Thr167Ala)
c.182A>G
n.332A>G
c.430A>G (p.Thr144Ala)
c.184A>G (p.Thr62Ala)
19g.1398987T>GCA402994567GAMTc.499A>C (p.Thr167Pro)
c.182A>C
n.332A>C
c.430A>C (p.Thr144Pro)
c.184A>C (p.Thr62Pro)
19g.1398987_1398990delinsTGAGCA2317699025GAMTc.496_499delinsCTCA (p.Leu166=)
c.179_182delinsCTCA
n.329_332delinsCTCA
c.427_430delinsCTCA (p.Leu143=)
c.181_184delinsCTCA (p.Leu61=)
19g.1398988G>ACA504895145GAMTc.498C>T (p.Leu166=)
c.181C>T
n.331C>T
c.429C>T (p.Leu143=)
c.183C>T (p.Leu61=)
19g.1398988G>CCA504895146GAMTc.498C>G (p.Leu166=)
c.181C>G
n.331C>G
c.429C>G (p.Leu143=)
c.183C>G (p.Leu61=)
 gnomAD v4
19g.1398988G>TCA504895147GAMTc.498C>A (p.Leu166=)
c.181C>A
n.331C>A
c.429C>A (p.Leu143=)
c.183C>A (p.Leu61=)
 gnomAD v4 COSMIC COSMIC
19g.1398990_1398992delCA2317699026GAMTc.496_498del (p.Leu166del)
c.179_181del
n.329_331del
c.427_429del (p.Leu143del)
c.181_183del (p.Leu61del)
 dbSNP
19g.1398989A=CA2317699027GAMTc.497T= (p.Leu166=)
c.180T=
n.330T=
c.428T= (p.Leu143=)
c.182T= (p.Leu61=)
19g.1398989A>CCA402994574GAMTc.497T>G (p.Leu166Arg)
c.180T>G
n.330T>G
c.428T>G (p.Leu143Arg)
c.182T>G (p.Leu61Arg)
19g.1398989A>GCA402994573GAMTc.497T>C (p.Leu166Pro)
c.180T>C
n.330T>C
c.428T>C (p.Leu143Pro)
c.182T>C (p.Leu61Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.1398989A>TCA402994570GAMTc.497T>A (p.Leu166His)
c.180T>A
n.330T>A
c.428T>A (p.Leu143His)
c.182T>A (p.Leu61His)
19g.1398990G>ACA402994577GAMTc.496C>T (p.Leu166Phe)
c.179C>T
n.329C>T
c.427C>T (p.Leu143Phe)
c.181C>T (p.Leu61Phe)
19g.1398990G>CCA402994581GAMTc.496C>G (p.Leu166Val)
c.179C>G
n.329C>G
c.427C>G (p.Leu143Val)
c.181C>G (p.Leu61Val)
19g.1398990G>TCA402994580GAMTc.496C>A (p.Leu166Ile)
c.179C>A
n.329C>A
c.427C>A (p.Leu143Ile)
c.181C>A (p.Leu61Ile)
19g.1398991G>ACA504895150GAMTc.495C>T (p.Val165=)
c.178C>T
n.328C>T
c.426C>T (p.Val142=)
c.180C>T (p.Val60=)
19g.1398991G>CCA504895151GAMTc.495C>G (p.Val165=)
c.178C>G
n.328C>G
c.426C>G (p.Val142=)
c.180C>G (p.Val60=)
19g.1398991G>TCA504895153GAMTc.495C>A (p.Val165=)
c.178C>A
n.328C>A
c.426C>A (p.Val142=)
c.180C>A (p.Val60=)
19g.1398992A>CCA402994582GAMTc.494T>G (p.Val165Gly)
c.177T>G
n.327T>G
c.425T>G (p.Val142Gly)
c.179T>G (p.Val60Gly)
19g.1398992A>GCA402994584GAMTc.494T>C (p.Val165Ala)
c.177T>C
n.327T>C
c.425T>C (p.Val142Ala)
c.179T>C (p.Val60Ala)
19g.1398992A>TCA402994583GAMTc.494T>A (p.Val165Asp)
c.177T>A
n.327T>A
c.425T>A (p.Val142Asp)
c.179T>A (p.Val60Asp)
19g.1398993C>ACA304065969GAMTc.493G>T (p.Val165Phe)
c.176G>T
n.326G>T
c.424G>T (p.Val142Phe)
c.178G>T (p.Val60Phe)
 dbSNP gnomAD v4
19g.1398993C=CA2317699028GAMTc.493G= (p.Val165=)
c.176G=
n.326G=
c.424G= (p.Val142=)
c.178G= (p.Val60=)
19g.1398993C>GCA402994585GAMTc.493G>C (p.Val165Leu)
c.176G>C
n.326G>C
c.424G>C (p.Val142Leu)
c.178G>C (p.Val60Leu)
19g.1398993C>TCA9043625GAMTc.493G>A (p.Val165Ile)
c.176G>A
n.326G>A
c.424G>A (p.Val142Ile)
c.178G>A (p.Val60Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1398993dupCA645614606GAMTc.493dup (p.Val165GlyfsTer26)
c.176dup
n.326dup
c.424dup (p.Val142GlyfsTer26)
c.178dup (p.Val60GlyfsTer26)
 COSMIC COSMIC
19g.1398994G>ACA504895157GAMTc.492C>T (p.Gly164=)
c.175C>T
n.325C>T
c.423C>T (p.Gly141=)
c.177C>T (p.Gly59=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1398994G>CCA9043626GAMTc.492C>G (p.Gly164=)
c.175C>G
n.325C>G
c.423C>G (p.Gly141=)
c.177C>G (p.Gly59=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.1398994G=CA2317699029GAMTc.492C= (p.Gly164=)
c.175C=
n.325C=
c.423C= (p.Gly141=)
c.177C= (p.Gly59=)
19g.1398994G>TCA504895159GAMTc.492C>A (p.Gly164=)
c.175C>A
n.325C>A
c.423C>A (p.Gly141=)
c.177C>A (p.Gly59=)
19g.1398994_1398995delinsGCCA2317699030GAMTc.491_492delinsGC (p.Gly164=)
c.174_175delinsGC
n.324_325delinsGC
c.422_423delinsGC (p.Gly141=)
c.176_177delinsGC (p.Gly59=)
19g.1398995C>ACA402994587GAMTc.491G>T (p.Gly164Val)
c.174G>T
n.324G>T
c.422G>T (p.Gly141Val)
c.176G>T (p.Gly59Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1398995C=CA2317699031GAMTc.491G= (p.Gly164=)
c.174G=
n.324G=
c.422G= (p.Gly141=)
c.176G= (p.Gly59=)
19g.1398995C>GCA402994588GAMTc.491G>C (p.Gly164Ala)
c.174G>C
n.324G>C
c.422G>C (p.Gly141Ala)
c.176G>C (p.Gly59Ala)
19g.1398995C>TCA314807GAMTc.491G>A (p.Gly164Asp)
c.174G>A
n.324G>A
c.422G>A (p.Gly141Asp)
c.176G>A (p.Gly59Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1399000dupCA9043628GAMTc.491dup (p.Val165ArgfsTer26)
c.174dup
n.324dup
c.422dup (p.Val142ArgfsTer26)
c.176dup (p.Val60ArgfsTer26)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.1399000delCA9043627GAMTc.491del (p.Gly164AlafsTer14)
c.174del
n.324del
c.422del (p.Gly141AlafsTer14)
c.176del (p.Gly59AlafsTer14)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.1398995_1398996insGCA504895160GAMTc.490_491insC (p.Gly164AlafsTer27)
c.173_174insC
n.323_324insC
c.421_422insC (p.Gly141AlafsTer27)
c.175_176insC (p.Gly59AlafsTer27)
19g.1398996C>ACA402994591GAMTc.490G>T (p.Gly164Cys)
c.173G>T
n.323G>T
c.421G>T (p.Gly141Cys)
c.175G>T (p.Gly59Cys)
19g.1398996C>GCA402994593GAMTc.490G>C (p.Gly164Arg)
c.173G>C
n.323G>C
c.421G>C (p.Gly141Arg)
c.175G>C (p.Gly59Arg)
 gnomAD v4
19g.1398996C>TCA402994599GAMTc.490G>A (p.Gly164Ser)
c.173G>A
n.323G>A
c.421G>A (p.Gly141Ser)
c.175G>A (p.Gly59Ser)
19g.1398997C>ACA504895161GAMTc.489G>T (p.Gly163=)
c.172G>T
n.322G>T
c.420G>T (p.Gly140=)
c.174G>T (p.Gly58=)
19g.1398997C>GCA504895162GAMTc.489G>C (p.Gly163=)
c.172G>C
n.322G>C
c.420G>C (p.Gly140=)
c.174G>C (p.Gly58=)
19g.1398997C>TCA504895164GAMTc.489G>A (p.Gly163=)
c.172G>A
n.322G>A
c.420G>A (p.Gly140=)
c.174G>A (p.Gly58=)
19g.1398998C>ACA402994611GAMTc.488G>T (p.Gly163Val)
c.171G>T
n.321G>T
c.419G>T (p.Gly140Val)
c.173G>T (p.Gly58Val)
19g.1398998C>GCA402994602GAMTc.488G>C (p.Gly163Ala)
c.171G>C
n.321G>C
c.419G>C (p.Gly140Ala)
c.173G>C (p.Gly58Ala)
19g.1398998C>TCA402994607GAMTc.488G>A (p.Gly163Glu)
c.171G>A
n.321G>A
c.419G>A (p.Gly140Glu)
c.173G>A (p.Gly58Glu)
 gnomAD v4 COSMIC COSMIC
19g.1398998_1398999insACCA913015583GAMTc.488_489insTG (p.Val165AlafsTer14)
c.171_172insTG
n.321_322insTG
c.419_420insTG (p.Val142AlafsTer14)
c.173_174insTG (p.Val60AlafsTer14)
19g.1398999C>ACA402994614GAMTc.487G>T (p.Gly163Trp)
c.170G>T
n.320G>T
c.418G>T (p.Gly140Trp)
c.172G>T (p.Gly58Trp)
 gnomAD v4
19g.1398999C>GCA402994617GAMTc.487G>C (p.Gly163Arg)
c.170G>C
n.320G>C
c.418G>C (p.Gly140Arg)
c.172G>C (p.Gly58Arg)
19g.1398999C>TCA402994622GAMTc.487G>A (p.Gly163Arg)
c.170G>A
n.320G>A
c.418G>A (p.Gly140Arg)
c.172G>A (p.Gly58Arg)
 COSMIC COSMIC
19g.1398999_1399001delCA2576548647GAMTc.485_487del (p.Pro162_Gly163delinsArg)
c.168_170del
n.318_320del
c.416_418del (p.Pro139_Gly140delinsArg)
c.170_172del (p.Pro57_Gly58delinsArg)
 gnomAD v4
19g.1399000C>ACA504895168GAMTc.486G>T (p.Pro162=)
c.169G>T
n.319G>T
c.417G>T (p.Pro139=)
c.171G>T (p.Pro57=)
19g.1399000C=CA2317699032GAMTc.486G= (p.Pro162=)
c.169G=
n.319G=
c.417G= (p.Pro139=)
c.171G= (p.Pro57=)
19g.1399000C>GCA9043630GAMTc.486G>C (p.Pro162=)
c.169G>C
n.319G>C
c.417G>C (p.Pro139=)
c.171G>C (p.Pro57=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.1399000C>TCA9043629GAMTc.486G>A (p.Pro162=)
c.169G>A
n.319G>A
c.417G>A (p.Pro139=)
c.171G>A (p.Pro57=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1399001G>ACA9043631GAMTc.485C>T (p.Pro162Leu)
c.168C>T
n.318C>T
c.416C>T (p.Pro139Leu)
c.170C>T (p.Pro57Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1399001G>CCA402994634GAMTc.485C>G (p.Pro162Arg)
c.168C>G
n.318C>G
c.416C>G (p.Pro139Arg)
c.170C>G (p.Pro57Arg)
 dbSNP gnomAD v3 gnomAD v4
19g.1399001G=CA2317699033GAMTc.485C= (p.Pro162=)
c.168C=
n.318C=
c.416C= (p.Pro139=)
c.170C= (p.Pro57=)
19g.1399001G>TCA402994636GAMTc.485C>A (p.Pro162Gln)
c.168C>A
n.318C>A
c.416C>A (p.Pro139Gln)
c.170C>A (p.Pro57Gln)
19g.1399002dupCA2813256004GAMTc.485dup (p.Val165ArgfsTer26)
c.168dup
n.318dup
c.416dup (p.Val142ArgfsTer26)
c.170dup (p.Val60ArgfsTer26)
19g.1399002G>ACA402994640GAMTc.484C>T (p.Pro162Ser)
c.167C>T
n.317C>T
c.415C>T (p.Pro139Ser)
c.169C>T (p.Pro57Ser)
 ClinVar dbSNP gnomAD v4
19g.1399002G>CCA402994642GAMTc.484C>G (p.Pro162Ala)
c.167C>G
n.317C>G
c.415C>G (p.Pro139Ala)
c.169C>G (p.Pro57Ala)
19g.1399002G=CA2317699034GAMTc.484C= (p.Pro162=)
c.167C=
n.317C=
c.415C= (p.Pro139=)
c.169C= (p.Pro57=)
19g.1399002G>TCA402994644GAMTc.484C>A (p.Pro162Thr)
c.167C>A
n.317C>A
c.415C>A (p.Pro139Thr)
c.169C>A (p.Pro57Thr)

Number of alleles fetched