Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.29702729T>ACA405142259C19orf12c.409A>T (p.Ile137Phe)
n.800A>T
c.217A>T (p.Ile73Phe)
c.442A>T (p.Ile148Phe)
c.*30A>T (n.*30A>T)
c.571A>T (p.Ile191Phe)
19g.29702729T>CCA405142258C19orf12c.409A>G (p.Ile137Val)
n.800A>G
c.217A>G (p.Ile73Val)
c.442A>G (p.Ile148Val)
c.*30A>G (n.*30A>G)
c.571A>G (p.Ile191Val)
19g.29702729T>GCA405142257C19orf12c.409A>C (p.Ile137Leu)
n.800A>C
c.217A>C (p.Ile73Leu)
c.442A>C (p.Ile148Leu)
c.*30A>C (n.*30A>C)
c.571A>C (p.Ile191Leu)
19g.29702730C>ACA405142260C19orf12c.408G>T (p.Glu136Asp)
n.799G>T
c.216G>T (p.Glu72Asp)
c.441G>T (p.Glu147Asp)
c.*29G>T (n.*29G>T)
c.570G>T (p.Glu190Asp)
 gnomAD v4
19g.29702730C=CA2330913505C19orf12c.408G= (p.Glu136=)
n.799G=
c.216G= (p.Glu72=)
c.441G= (p.Glu147=)
c.*29G= (n.*29G=)
c.570G= (p.Glu190=)
19g.29702730C>GCA405142261C19orf12c.408G>C (p.Glu136Asp)
n.799G>C
c.216G>C (p.Glu72Asp)
c.441G>C (p.Glu147Asp)
c.*29G>C (n.*29G>C)
c.570G>C (p.Glu190Asp)
19g.29702730C>TCA506986399C19orf12c.408G>A (p.Glu136=)
n.799G>A
c.216G>A (p.Glu72=)
c.441G>A (p.Glu147=)
c.*29G>A (n.*29G>A)
c.570G>A (p.Glu190=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.29702731T>ACA405142262C19orf12c.407A>T (p.Glu136Val)
n.798A>T
c.215A>T (p.Glu72Val)
c.440A>T (p.Glu147Val)
c.*28A>T (n.*28A>T)
c.569A>T (p.Glu190Val)
19g.29702731T>CCA405142263C19orf12c.407A>G (p.Glu136Gly)
n.798A>G
c.215A>G (p.Glu72Gly)
c.440A>G (p.Glu147Gly)
c.*28A>G (n.*28A>G)
c.569A>G (p.Glu190Gly)
19g.29702731T>GCA405142264C19orf12c.407A>C (p.Glu136Ala)
n.798A>C
c.215A>C (p.Glu72Ala)
c.440A>C (p.Glu147Ala)
c.*28A>C (n.*28A>C)
c.569A>C (p.Glu190Ala)
19g.29702732C>ACA405142265C19orf12c.406G>T (p.Glu136Ter)
n.797G>T
c.214G>T (p.Glu72Ter)
c.439G>T (p.Glu147Ter)
c.*27G>T (n.*27G>T)
c.568G>T (p.Glu190Ter)
19g.29702732C=CA2330913506C19orf12c.406G= (p.Glu136=)
n.797G=
c.214G= (p.Glu72=)
c.439G= (p.Glu147=)
c.*27G= (n.*27G=)
c.568G= (p.Glu190=)
19g.29702732C>GCA405142266C19orf12c.406G>C (p.Glu136Gln)
n.797G>C
c.214G>C (p.Glu72Gln)
c.439G>C (p.Glu147Gln)
c.*27G>C (n.*27G>C)
c.568G>C (p.Glu190Gln)
19g.29702732C>TCA9351864C19orf12c.406G>A (p.Glu136Lys)
n.797G>A
c.214G>A (p.Glu72Lys)
c.439G>A (p.Glu147Lys)
c.*27G>A (n.*27G>A)
c.568G>A (p.Glu190Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.29702733G>ACA9351865C19orf12c.405C>T (p.Ala135=)
n.796C>T
c.213C>T (p.Ala71=)
c.438C>T (p.Ala146=)
c.*26C>T (n.*26C>T)
c.567C>T (p.Ala189=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702733G>CCA9351866C19orf12c.405C>G (p.Ala135=)
n.796C>G
c.213C>G (p.Ala71=)
c.438C>G (p.Ala146=)
c.*26C>G (n.*26C>G)
c.567C>G (p.Ala189=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.29702733G=CA2330913507C19orf12c.405C= (p.Ala135=)
n.796C=
c.213C= (p.Ala71=)
c.438C= (p.Ala146=)
c.*26C= (n.*26C=)
c.567C= (p.Ala189=)
19g.29702733G>TCA506986431C19orf12c.405C>A (p.Ala135=)
n.796C>A
c.213C>A (p.Ala71=)
c.438C>A (p.Ala146=)
c.*26C>A (n.*26C>A)
c.567C>A (p.Ala189=)
19g.29702734G>ACA405142267C19orf12c.404C>T (p.Ala135Val)
n.795C>T
c.212C>T (p.Ala71Val)
c.437C>T (p.Ala146Val)
c.*25C>T (n.*25C>T)
c.566C>T (p.Ala189Val)
 dbSNP COSMIC COSMIC
19g.29702734G>CCA405142268C19orf12c.404C>G (p.Ala135Gly)
n.795C>G
c.212C>G (p.Ala71Gly)
c.437C>G (p.Ala146Gly)
c.*25C>G (n.*25C>G)
c.566C>G (p.Ala189Gly)
19g.29702734G=CA2330913508C19orf12c.404C= (p.Ala135=)
n.795C=
c.212C= (p.Ala71=)
c.437C= (p.Ala146=)
c.*25C= (n.*25C=)
c.566C= (p.Ala189=)
19g.29702734G>TCA405142269C19orf12c.404C>A (p.Ala135Asp)
n.795C>A
c.212C>A (p.Ala71Asp)
c.437C>A (p.Ala146Asp)
c.*25C>A (n.*25C>A)
c.566C>A (p.Ala189Asp)
19g.29702735C>ACA405142271C19orf12c.403G>T (p.Ala135Ser)
n.794G>T
c.211G>T (p.Ala71Ser)
c.436G>T (p.Ala146Ser)
c.*24G>T (n.*24G>T)
c.565G>T (p.Ala189Ser)
 dbSNP gnomAD v4
19g.29702735C=CA2330913509C19orf12c.403G= (p.Ala135=)
n.794G=
c.211G= (p.Ala71=)
c.436G= (p.Ala146=)
c.*24G= (n.*24G=)
c.565G= (p.Ala189=)
19g.29702735C>GCA405142272C19orf12c.403G>C (p.Ala135Pro)
n.794G>C
c.211G>C (p.Ala71Pro)
c.436G>C (p.Ala146Pro)
c.*24G>C (n.*24G>C)
c.565G>C (p.Ala189Pro)
19g.29702735C>TCA405142270C19orf12c.403G>A (p.Ala135Thr)
n.794G>A
c.211G>A (p.Ala71Thr)
c.436G>A (p.Ala146Thr)
c.*24G>A (n.*24G>A)
c.565G>A (p.Ala189Thr)
19g.29702737dupCA2499225430C19orf12c.403dup (p.Ala135GlyfsTer6)
n.794dup
c.211dup (p.Ala71GlyfsTer6)
c.436dup (p.Ala146GlyfsTer6)
c.*24dup (n.*24dup)
c.565dup (p.Ala189GlyfsTer6)
 ClinVar dbSNP gnomAD v4
19g.29702736C>ACA506986454C19orf12c.402G>T (p.Arg134=)
n.793G>T
c.210G>T (p.Arg70=)
c.435G>T (p.Arg145=)
c.*23G>T (n.*23G>T)
c.564G>T (p.Arg188=)
19g.29702736C>GCA506986456C19orf12c.402G>C (p.Arg134=)
n.793G>C
c.210G>C (p.Arg70=)
c.435G>C (p.Arg145=)
c.*23G>C (n.*23G>C)
c.564G>C (p.Arg188=)
19g.29702736C>TCA506986459C19orf12c.402G>A (p.Arg134=)
n.793G>A
c.210G>A (p.Arg70=)
c.435G>A (p.Arg145=)
c.*23G>A (n.*23G>A)
c.564G>A (p.Arg188=)
19g.29702737C>ACA405142273C19orf12c.401G>T (p.Arg134Leu)
n.792G>T
c.209G>T (p.Arg70Leu)
c.434G>T (p.Arg145Leu)
c.*22G>T (n.*22G>T)
c.563G>T (p.Arg188Leu)
 COSMIC COSMIC
19g.29702737C=CA2330913510C19orf12c.401G= (p.Arg134=)
n.792G=
c.209G= (p.Arg70=)
c.434G= (p.Arg145=)
c.*22G= (n.*22G=)
c.563G= (p.Arg188=)
19g.29702737C>GCA405142274C19orf12c.401G>C (p.Arg134Pro)
n.792G>C
c.209G>C (p.Arg70Pro)
c.434G>C (p.Arg145Pro)
c.*22G>C (n.*22G>C)
c.563G>C (p.Arg188Pro)
19g.29702737C>TCA9351867C19orf12c.401G>A (p.Arg134Gln)
n.792G>A
c.209G>A (p.Arg70Gln)
c.434G>A (p.Arg145Gln)
c.*22G>A (n.*22G>A)
c.563G>A (p.Arg188Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702738G>ACA405142275C19orf12c.400C>T (p.Arg134Trp)
n.791C>T
c.208C>T (p.Arg70Trp)
c.433C>T (p.Arg145Trp)
c.*21C>T (n.*21C>T)
c.562C>T (p.Arg188Trp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.29702738G>CCA405142276C19orf12c.400C>G (p.Arg134Gly)
n.791C>G
c.208C>G (p.Arg70Gly)
c.433C>G (p.Arg145Gly)
c.*21C>G (n.*21C>G)
c.562C>G (p.Arg188Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.29702738G=CA2330913511C19orf12c.400C= (p.Arg134=)
n.791C=
c.208C= (p.Arg70=)
c.433C= (p.Arg145=)
c.*21C= (n.*21C=)
c.562C= (p.Arg188=)
19g.29702738G>TCA506986474C19orf12c.400C>A (p.Arg134=)
n.791C>A
c.208C>A (p.Arg70=)
c.433C>A (p.Arg145=)
c.*21C>A (n.*21C>A)
c.562C>A (p.Arg188=)
 gnomAD v4
19g.29702739C>ACA506986478C19orf12c.399G>T (p.Leu133=)
n.790G>T
c.207G>T (p.Leu69=)
c.432G>T (p.Leu144=)
c.*20G>T (n.*20G>T)
c.561G>T (p.Leu187=)
19g.29702739C>GCA506986481C19orf12c.399G>C (p.Leu133=)
n.790G>C
c.207G>C (p.Leu69=)
c.432G>C (p.Leu144=)
c.*20G>C (n.*20G>C)
c.561G>C (p.Leu187=)
19g.29702739C>TCA506986485C19orf12c.399G>A (p.Leu133=)
n.790G>A
c.207G>A (p.Leu69=)
c.432G>A (p.Leu144=)
c.*20G>A (n.*20G>A)
c.561G>A (p.Leu187=)
19g.29702740A>CCA405142277C19orf12c.398T>G (p.Leu133Arg)
n.789T>G
c.206T>G (p.Leu69Arg)
c.431T>G (p.Leu144Arg)
c.*19T>G (n.*19T>G)
c.560T>G (p.Leu187Arg)
19g.29702740A>GCA405142278C19orf12c.398T>C (p.Leu133Pro)
n.789T>C
c.206T>C (p.Leu69Pro)
c.431T>C (p.Leu144Pro)
c.*19T>C (n.*19T>C)
c.560T>C (p.Leu187Pro)
19g.29702740A>TCA405142284C19orf12c.398T>A (p.Leu133Gln)
n.789T>A
c.206T>A (p.Leu69Gln)
c.431T>A (p.Leu144Gln)
c.*19T>A (n.*19T>A)
c.560T>A (p.Leu187Gln)
19g.29702741G>ACA506986487C19orf12c.397C>T (p.Leu133=)
n.788C>T
c.205C>T (p.Leu69=)
c.430C>T (p.Leu144=)
c.*18C>T (n.*18C>T)
c.559C>T (p.Leu187=)
 gnomAD v4 COSMIC COSMIC
19g.29702741G>CCA405142287C19orf12c.397C>G (p.Leu133Val)
n.788C>G
c.205C>G (p.Leu69Val)
c.430C>G (p.Leu144Val)
c.*18C>G (n.*18C>G)
c.559C>G (p.Leu187Val)
 gnomAD v4
19g.29702741G>TCA405142289C19orf12c.397C>A (p.Leu133Met)
n.788C>A
c.205C>A (p.Leu69Met)
c.430C>A (p.Leu144Met)
c.*18C>A (n.*18C>A)
c.559C>A (p.Leu187Met)
19g.29702742C>ACA405142291C19orf12c.396G>T (p.Glu132Asp)
n.787G>T
c.204G>T (p.Glu68Asp)
c.429G>T (p.Glu143Asp)
c.*17G>T (n.*17G>T)
c.558G>T (p.Glu186Asp)
19g.29702742C=CA2330913512C19orf12c.396G= (p.Glu132=)
n.787G=
c.204G= (p.Glu68=)
c.429G= (p.Glu143=)
c.*17G= (n.*17G=)
c.558G= (p.Glu186=)
19g.29702742C>GCA405142294C19orf12c.396G>C (p.Glu132Asp)
n.787G>C
c.204G>C (p.Glu68Asp)
c.429G>C (p.Glu143Asp)
c.*17G>C (n.*17G>C)
c.558G>C (p.Glu186Asp)
19g.29702742C>TCA9351868C19orf12c.396G>A (p.Glu132=)
n.787G>A
c.204G>A (p.Glu68=)
c.429G>A (p.Glu143=)
c.*17G>A (n.*17G>A)
c.558G>A (p.Glu186=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702743T>ACA405142302C19orf12c.395A>T (p.Glu132Val)
n.786A>T
c.203A>T (p.Glu68Val)
c.428A>T (p.Glu143Val)
c.*16A>T (n.*16A>T)
c.557A>T (p.Glu186Val)
 dbSNP gnomAD v3 gnomAD v4
19g.29702743T>CCA405142300C19orf12c.395A>G (p.Glu132Gly)
n.786A>G
c.203A>G (p.Glu68Gly)
c.428A>G (p.Glu143Gly)
c.*16A>G (n.*16A>G)
c.557A>G (p.Glu186Gly)
19g.29702743T>GCA405142297C19orf12c.395A>C (p.Glu132Ala)
n.786A>C
c.203A>C (p.Glu68Ala)
c.428A>C (p.Glu143Ala)
c.*16A>C (n.*16A>C)
c.557A>C (p.Glu186Ala)
19g.29702743T=CA2330913513C19orf12c.395A= (p.Glu132=)
n.786A=
c.203A= (p.Glu68=)
c.428A= (p.Glu143=)
c.*16A= (n.*16A=)
c.557A= (p.Glu186=)
19g.29702744C>ACA405142305C19orf12c.394G>T (p.Glu132Ter)
n.785G>T
c.202G>T (p.Glu68Ter)
c.427G>T (p.Glu143Ter)
c.*15G>T (n.*15G>T)
c.556G>T (p.Glu186Ter)
 dbSNP gnomAD v3 gnomAD v4
19g.29702744C=CA2330913514C19orf12c.394G= (p.Glu132=)
n.785G=
c.202G= (p.Glu68=)
c.427G= (p.Glu143=)
c.*15G= (n.*15G=)
c.556G= (p.Glu186=)
19g.29702744C>GCA405142307C19orf12c.394G>C (p.Glu132Gln)
n.785G>C
c.202G>C (p.Glu68Gln)
c.427G>C (p.Glu143Gln)
c.*15G>C (n.*15G>C)
c.556G>C (p.Glu186Gln)
 ClinVar dbSNP gnomAD v4
19g.29702744C>TCA405142309C19orf12c.394G>A (p.Glu132Lys)
n.785G>A
c.202G>A (p.Glu68Lys)
c.427G>A (p.Glu143Lys)
c.*15G>A (n.*15G>A)
c.556G>A (p.Glu186Lys)
 dbSNP gnomAD v3 gnomAD v4
19g.29702745C>ACA405142312C19orf12c.393G>T (p.Lys131Asn)
n.784G>T
c.201G>T (p.Lys67Asn)
c.426G>T (p.Lys142Asn)
c.*14G>T (n.*14G>T)
c.555G>T (p.Lys185Asn)
19g.29702745C=CA2330913515C19orf12c.393G= (p.Lys131=)
n.784G=
c.201G= (p.Lys67=)
c.426G= (p.Lys142=)
c.*14G= (n.*14G=)
c.555G= (p.Lys185=)
19g.29702745C>GCA9351869C19orf12c.393G>C (p.Lys131Asn)
n.784G>C
c.201G>C (p.Lys67Asn)
c.426G>C (p.Lys142Asn)
c.*14G>C (n.*14G>C)
c.555G>C (p.Lys185Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.29702745C>TCA506986521C19orf12c.393G>A (p.Lys131=)
n.784G>A
c.201G>A (p.Lys67=)
c.426G>A (p.Lys142=)
c.*14G>A (n.*14G>A)
c.555G>A (p.Lys185=)
 gnomAD v4
19g.29702746T>ACA405142321C19orf12c.392A>T (p.Lys131Met)
n.783A>T
c.200A>T (p.Lys67Met)
c.425A>T (p.Lys142Met)
c.*13A>T (n.*13A>T)
c.554A>T (p.Lys185Met)
19g.29702746T>CCA405142322C19orf12c.392A>G (p.Lys131Arg)
n.783A>G
c.200A>G (p.Lys67Arg)
c.425A>G (p.Lys142Arg)
c.*13A>G (n.*13A>G)
c.554A>G (p.Lys185Arg)
 dbSNP
19g.29702746T>GCA152062C19orf12c.392A>C (p.Lys131Thr)
n.783A>C
c.200A>C (p.Lys67Thr)
c.425A>C (p.Lys142Thr)
c.*13A>C (n.*13A>C)
c.554A>C (p.Lys185Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702746T=CA2330913516C19orf12c.392A= (p.Lys131=)
n.783A=
c.200A= (p.Lys67=)
c.425A= (p.Lys142=)
c.*13A= (n.*13A=)
c.554A= (p.Lys185=)
19g.29702747T>ACA405142324C19orf12c.391A>T (p.Lys131Ter)
n.782A>T
c.199A>T (p.Lys67Ter)
c.424A>T (p.Lys142Ter)
c.*12A>T (n.*12A>T)
c.553A>T (p.Lys185Ter)
19g.29702747T>CCA259994C19orf12c.391A>G (p.Lys131Glu)
n.782A>G
c.199A>G (p.Lys67Glu)
c.424A>G (p.Lys142Glu)
c.*12A>G (n.*12A>G)
c.553A>G (p.Lys185Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702747T>GCA405142325C19orf12c.391A>C (p.Lys131Gln)
n.782A>C
c.199A>C (p.Lys67Gln)
c.424A>C (p.Lys142Gln)
c.*12A>C (n.*12A>C)
c.553A>C (p.Lys185Gln)
19g.29702747T=CA2330913517C19orf12c.391A= (p.Lys131=)
n.782A=
c.199A= (p.Lys67=)
c.424A= (p.Lys142=)
c.*12A= (n.*12A=)
c.553A= (p.Lys185=)
19g.29702748G>ACA506986537C19orf12c.390C>T (p.Thr130=)
n.781C>T
c.198C>T (p.Thr66=)
c.423C>T (p.Thr141=)
c.*11C>T (n.*11C>T)
c.552C>T (p.Thr184=)
 dbSNP gnomAD v4
19g.29702748G>CCA506986540C19orf12c.390C>G (p.Thr130=)
n.781C>G
c.198C>G (p.Thr66=)
c.423C>G (p.Thr141=)
c.*11C>G (n.*11C>G)
c.552C>G (p.Thr184=)
19g.29702748G=CA2330913518C19orf12c.390C= (p.Thr130=)
n.781C=
c.198C= (p.Thr66=)
c.423C= (p.Thr141=)
c.*11C= (n.*11C=)
c.552C= (p.Thr184=)
19g.29702748G>TCA506986541C19orf12c.390C>A (p.Thr130=)
n.781C>A
c.198C>A (p.Thr66=)
c.423C>A (p.Thr141=)
c.*11C>A (n.*11C>A)
c.552C>A (p.Thr184=)
19g.29702749G>ACA405142330C19orf12c.389C>T (p.Thr130Ile)
n.780C>T
c.197C>T (p.Thr66Ile)
c.422C>T (p.Thr141Ile)
c.*10C>T (n.*10C>T)
c.551C>T (p.Thr184Ile)
19g.29702749G>CCA405142333C19orf12c.389C>G (p.Thr130Ser)
n.780C>G
c.197C>G (p.Thr66Ser)
c.422C>G (p.Thr141Ser)
c.*10C>G (n.*10C>G)
c.551C>G (p.Thr184Ser)
19g.29702749G>TCA405142328C19orf12c.389C>A (p.Thr130Asn)
n.780C>A
c.197C>A (p.Thr66Asn)
c.422C>A (p.Thr141Asn)
c.*10C>A (n.*10C>A)
c.551C>A (p.Thr184Asn)
19g.29702750T>ACA405142334C19orf12c.388A>T (p.Thr130Ser)
n.779A>T
c.196A>T (p.Thr66Ser)
c.421A>T (p.Thr141Ser)
c.*9A>T (n.*9A>T)
c.550A>T (p.Thr184Ser)
19g.29702750T>CCA405142336C19orf12c.388A>G (p.Thr130Ala)
n.779A>G
c.196A>G (p.Thr66Ala)
c.421A>G (p.Thr141Ala)
c.*9A>G (n.*9A>G)
c.550A>G (p.Thr184Ala)
19g.29702750T>GCA405142337C19orf12c.388A>C (p.Thr130Pro)
n.779A>C
c.196A>C (p.Thr66Pro)
c.421A>C (p.Thr141Pro)
c.*9A>C (n.*9A>C)
c.550A>C (p.Thr184Pro)
19g.29702751G>ACA506986550C19orf12c.387C>T (p.Val129=)
n.778C>T
c.195C>T (p.Val65=)
c.420C>T (p.Val140=)
c.*8C>T (n.*8C>T)
c.549C>T (p.Val183=)
19g.29702751G>CCA506986551C19orf12c.387C>G (p.Val129=)
n.778C>G
c.195C>G (p.Val65=)
c.420C>G (p.Val140=)
c.*8C>G (n.*8C>G)
c.549C>G (p.Val183=)
19g.29702751G>TCA506986553C19orf12c.387C>A (p.Val129=)
n.778C>A
c.195C>A (p.Val65=)
c.420C>A (p.Val140=)
c.*8C>A (n.*8C>A)
c.549C>A (p.Val183=)
19g.29702752A>CCA405142340C19orf12c.386T>G (p.Val129Gly)
n.777T>G
c.194T>G (p.Val65Gly)
c.419T>G (p.Val140Gly)
c.*7T>G (n.*7T>G)
c.548T>G (p.Val183Gly)
19g.29702752A>GCA405142341C19orf12c.386T>C (p.Val129Ala)
n.777T>C
c.194T>C (p.Val65Ala)
c.419T>C (p.Val140Ala)
c.*7T>C (n.*7T>C)
c.548T>C (p.Val183Ala)
19g.29702752A>TCA405142344C19orf12c.386T>A (p.Val129Asp)
n.777T>A
c.194T>A (p.Val65Asp)
c.419T>A (p.Val140Asp)
c.*7T>A (n.*7T>A)
c.548T>A (p.Val183Asp)
19g.29702752_29702753insACTACA2839330465C19orf12c.386_387insAGTT (p.Thr130ValfsTer12)
n.777_778insAGTT
c.194_195insAGTT (p.Thr66ValfsTer12)
c.419_420insAGTT (p.Thr141ValfsTer12)
c.*7_*8insAGTT (n.*7_*8insAGTT)
c.548_549insAGTT (p.Thr184ValfsTer12)
19g.29702752_29702753delinsTGCA645611975C19orf12c.385_386delinsCA (p.Val129His)
n.776_777delinsCA
c.193_194delinsCA (p.Val65His)
c.418_419delinsCA (p.Val140His)
c.*6_*7delinsCA (n.*6_*7delinsCA)
c.547_548delinsCA (p.Val183His)
 COSMIC COSMIC
19g.29702753C>ACA405142346C19orf12c.385G>T (p.Val129Phe)
n.776G>T
c.193G>T (p.Val65Phe)
c.418G>T (p.Val140Phe)
c.*6G>T (n.*6G>T)
c.547G>T (p.Val183Phe)
19g.29702753C=CA2330913519C19orf12c.385G= (p.Val129=)
n.776G=
c.193G= (p.Val65=)
c.418G= (p.Val140=)
c.*6G= (n.*6G=)
c.547G= (p.Val183=)
19g.29702753C>GCA405142348C19orf12c.385G>C (p.Val129Leu)
n.776G>C
c.193G>C (p.Val65Leu)
c.418G>C (p.Val140Leu)
c.*6G>C (n.*6G>C)
c.547G>C (p.Val183Leu)
19g.29702753C>TCA405142349C19orf12c.385G>A (p.Val129Ile)
n.776G>A
c.193G>A (p.Val65Ile)
c.418G>A (p.Val140Ile)
c.*6G>A (n.*6G>A)
c.547G>A (p.Val183Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.29702754_29702797delCA2584189483C19orf12c.342_385del (p.Glu115HisfsTer11)
n.733_776del
c.150_193del (p.Glu51HisfsTer11)
c.375_418del (p.Glu126HisfsTer11)
c.291-4_*6del
c.504_547del (p.Glu169HisfsTer11)
 gnomAD v4
19g.29702754G>ACA9351870C19orf12c.384C>T (p.Tyr128=)
n.775C>T
c.192C>T (p.Tyr64=)
c.417C>T (p.Tyr139=)
c.*5C>T (n.*5C>T)
c.546C>T (p.Tyr182=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.29702754G>CCA405142351C19orf12c.384C>G (p.Tyr128Ter)
n.775C>G
c.192C>G (p.Tyr64Ter)
c.417C>G (p.Tyr139Ter)
c.*5C>G (n.*5C>G)
c.546C>G (p.Tyr182Ter)
19g.29702754G=CA2330913520C19orf12c.384C= (p.Tyr128=)
n.775C=
c.192C= (p.Tyr64=)
c.417C= (p.Tyr139=)
c.*5C= (n.*5C=)
c.546C= (p.Tyr182=)
19g.29702754G>TCA405142352C19orf12c.384C>A (p.Tyr128Ter)
n.775C>A
c.192C>A (p.Tyr64Ter)
c.417C>A (p.Tyr139Ter)
c.*5C>A (n.*5C>A)
c.546C>A (p.Tyr182Ter)
19g.29702755T>ACA405142359C19orf12c.383A>T (p.Tyr128Phe)
n.774A>T
c.191A>T (p.Tyr64Phe)
c.416A>T (p.Tyr139Phe)
c.*4A>T (n.*4A>T)
c.545A>T (p.Tyr182Phe)
19g.29702755T>CCA405142356C19orf12c.383A>G (p.Tyr128Cys)
n.774A>G
c.191A>G (p.Tyr64Cys)
c.416A>G (p.Tyr139Cys)
c.*4A>G (n.*4A>G)
c.545A>G (p.Tyr182Cys)
19g.29702755T>GCA405142358C19orf12c.383A>C (p.Tyr128Ser)
n.774A>C
c.191A>C (p.Tyr64Ser)
c.416A>C (p.Tyr139Ser)
c.*4A>C (n.*4A>C)
c.545A>C (p.Tyr182Ser)
19g.29702756_29702759delCA2838269286C19orf12c.380_383del (p.Asn127ThrfsTer26)
n.771_774del
c.188_191del (p.Asn63ThrfsTer26)
c.413_416del (p.Asn138ThrfsTer26)
c.*1_*4del (n.*1_*4del)
c.542_545del (p.Asn181ThrfsTer26)
19g.29702756A>CCA405142361C19orf12c.382T>G (p.Tyr128Asp)
n.773T>G
c.190T>G (p.Tyr64Asp)
c.415T>G (p.Tyr139Asp)
c.*3T>G (n.*3T>G)
c.544T>G (p.Tyr182Asp)
19g.29702756A>GCA405142366C19orf12c.382T>C (p.Tyr128His)
n.773T>C
c.190T>C (p.Tyr64His)
c.415T>C (p.Tyr139His)
c.*3T>C (n.*3T>C)
c.544T>C (p.Tyr182His)
19g.29702756A>TCA405142372C19orf12c.382T>A (p.Tyr128Asn)
n.773T>A
c.190T>A (p.Tyr64Asn)
c.415T>A (p.Tyr139Asn)
c.*3T>A (n.*3T>A)
c.544T>A (p.Tyr182Asn)
19g.29702757G>ACA506986577C19orf12c.381C>T (p.Asn127=)
n.772C>T
c.189C>T (p.Asn63=)
c.414C>T (p.Asn138=)
c.*2C>T (n.*2C>T)
c.543C>T (p.Asn181=)
 dbSNP
19g.29702757G>CCA405142374C19orf12c.381C>G (p.Asn127Lys)
n.772C>G
c.189C>G (p.Asn63Lys)
c.414C>G (p.Asn138Lys)
c.*2C>G (n.*2C>G)
c.543C>G (p.Asn181Lys)
19g.29702757G=CA2330913521C19orf12c.381C= (p.Asn127=)
n.772C=
c.189C= (p.Asn63=)
c.414C= (p.Asn138=)
c.*2C= (n.*2C=)
c.543C= (p.Asn181=)
19g.29702757G>TCA405142376C19orf12c.381C>A (p.Asn127Lys)
n.772C>A
c.189C>A (p.Asn63Lys)
c.414C>A (p.Asn138Lys)
c.*2C>A (n.*2C>A)
c.543C>A (p.Asn181Lys)
19g.29702758T>ACA405142380C19orf12c.380A>T (p.Asn127Ile)
n.771A>T
c.188A>T (p.Asn63Ile)
c.413A>T (p.Asn138Ile)
c.*1A>T (n.*1A>T)
c.542A>T (p.Asn181Ile)
19g.29702758T>CCA405142381C19orf12c.380A>G (p.Asn127Ser)
n.771A>G
c.188A>G (p.Asn63Ser)
c.413A>G (p.Asn138Ser)
c.*1A>G (n.*1A>G)
c.542A>G (p.Asn181Ser)
 gnomAD v4 COSMIC COSMIC
19g.29702758T>GCA405142382C19orf12c.380A>C (p.Asn127Thr)
n.771A>C
c.188A>C (p.Asn63Thr)
c.413A>C (p.Asn138Thr)
c.*1A>C (n.*1A>C)
c.542A>C (p.Asn181Thr)
19g.29702759T>ACA405142383C19orf12c.379A>T (p.Asn127Tyr)
n.770A>T
c.187A>T (p.Asn63Tyr)
c.412A>T (p.Asn138Tyr)
c.324A>T (p.Ter108Cys)
c.541A>T (p.Asn181Tyr)
19g.29702759T>CCA405142384C19orf12c.379A>G (p.Asn127Asp)
n.770A>G
c.187A>G (p.Asn63Asp)
c.412A>G (p.Asn138Asp)
c.324A>G (p.Ter108Trp)
c.541A>G (p.Asn181Asp)
19g.29702759T>GCA405142385C19orf12c.379A>C (p.Asn127His)
n.770A>C
c.187A>C (p.Asn63His)
c.412A>C (p.Asn138His)
c.324A>C (p.Ter108Cys)
c.541A>C (p.Asn181His)
19g.29702760C>ACA405142392C19orf12c.378G>T (p.Val126=)
n.769G>T
c.186G>T (p.Val62=)
c.411G>T (p.Val137=)
c.323G>T (p.Ter108Leu)
c.540G>T (p.Val180=)
19g.29702760C>GCA405142397C19orf12c.378G>C (p.Val126=)
n.769G>C
c.186G>C (p.Val62=)
c.411G>C (p.Val137=)
c.323G>C (p.Ter108Ser)
c.540G>C (p.Val180=)
19g.29702760C>TCA506986593C19orf12c.378G>A (p.Val126=)
n.769G>A
c.186G>A (p.Val62=)
c.411G>A (p.Val137=)
c.323G>A (p.Ter108=)
c.540G>A (p.Val180=)
19g.29702761A=CA2330913522C19orf12c.377T= (p.Val126=)
n.768T=
c.185T= (p.Val62=)
c.410T= (p.Val137=)
c.322T= (p.Ter108=)
c.539T= (p.Val180=)
19g.29702761A>CCA405142401C19orf12c.377T>G (p.Val126Gly)
n.768T>G
c.185T>G (p.Val62Gly)
c.410T>G (p.Val137Gly)
c.322T>G (p.Ter108Gly)
c.539T>G (p.Val180Gly)
 dbSNP
19g.29702761A>GCA405142404C19orf12c.377T>C (p.Val126Ala)
n.768T>C
c.185T>C (p.Val62Ala)
c.410T>C (p.Val137Ala)
c.322T>C (p.Ter108Arg)
c.539T>C (p.Val180Ala)
19g.29702761A>TCA405142399C19orf12c.377T>A (p.Val126Glu)
n.768T>A
c.185T>A (p.Val62Glu)
c.410T>A (p.Val137Glu)
c.322T>A (p.Ter108Arg)
c.539T>A (p.Val180Glu)
19g.29702762C>ACA405142408C19orf12c.376G>T (p.Val126Leu)
n.767G>T
c.184G>T (p.Val62Leu)
c.409G>T (p.Val137Leu)
c.321G>T (p.Trp107Cys)
c.538G>T (p.Val180Leu)
 gnomAD v4
19g.29702762C=CA2330913523C19orf12c.376G= (p.Val126=)
n.767G=
c.184G= (p.Val62=)
c.409G= (p.Val137=)
c.321G= (p.Trp107=)
c.538G= (p.Val180=)
19g.29702762C>GCA405142410C19orf12c.376G>C (p.Val126Leu)
n.767G>C
c.184G>C (p.Val62Leu)
c.409G>C (p.Val137Leu)
c.321G>C (p.Trp107Cys)
c.538G>C (p.Val180Leu)
19g.29702762C>TCA9351872C19orf12c.376G>A (p.Val126Met)
n.767G>A
c.184G>A (p.Val62Met)
c.409G>A (p.Val137Met)
c.321G>A (p.Trp107Ter)
c.538G>A (p.Val180Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702763dupCA9351871C19orf12c.376dup (p.Val126GlyfsTer15)
n.767dup
c.184dup (p.Val62GlyfsTer15)
c.409dup (p.Val137GlyfsTer15)
c.321dup (p.Ter108ValextTer17)
c.538dup (p.Val180GlyfsTer15)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.29702763C>ACA405142412C19orf12c.375G>T (p.Leu125=)
n.766G>T
c.183G>T (p.Leu61=)
c.408G>T (p.Leu136=)
c.320G>T (p.Trp107Leu)
c.537G>T (p.Leu179=)
 gnomAD v4
19g.29702763C>GCA405142413C19orf12c.375G>C (p.Leu125=)
n.766G>C
c.183G>C (p.Leu61=)
c.408G>C (p.Leu136=)
c.320G>C (p.Trp107Ser)
c.537G>C (p.Leu179=)
19g.29702763C>TCA405142414C19orf12c.375G>A (p.Leu125=)
n.766G>A
c.183G>A (p.Leu61=)
c.408G>A (p.Leu136=)
c.320G>A (p.Trp107Ter)
c.537G>A (p.Leu179=)
19g.29702764A>CCA405142415C19orf12c.374T>G (p.Leu125Arg)
n.765T>G
c.182T>G (p.Leu61Arg)
c.407T>G (p.Leu136Arg)
c.319T>G (p.Trp107Gly)
c.536T>G (p.Leu179Arg)
19g.29702764A>GCA405142417C19orf12c.374T>C (p.Leu125Pro)
n.765T>C
c.182T>C (p.Leu61Pro)
c.407T>C (p.Leu136Pro)
c.319T>C (p.Trp107Arg)
c.536T>C (p.Leu179Pro)
19g.29702764A>TCA405142416C19orf12c.374T>A (p.Leu125Gln)
n.765T>A
c.182T>A (p.Leu61Gln)
c.407T>A (p.Leu136Gln)
c.319T>A (p.Trp107Arg)
c.536T>A (p.Leu179Gln)
19g.29702765G>ACA506986624C19orf12c.373C>T (p.Leu125=)
n.764C>T
c.181C>T (p.Leu61=)
c.406C>T (p.Leu136=)
c.318C>T (p.Cys106=)
c.535C>T (p.Leu179=)
 dbSNP gnomAD v2 gnomAD v4
19g.29702765G>CCA405142420C19orf12c.373C>G (p.Leu125Val)
n.764C>G
c.181C>G (p.Leu61Val)
c.406C>G (p.Leu136Val)
c.318C>G (p.Cys106Trp)
c.535C>G (p.Leu179Val)
19g.29702765G=CA2330913524C19orf12c.373C= (p.Leu125=)
n.764C=
c.181C= (p.Leu61=)
c.406C= (p.Leu136=)
c.318C= (p.Cys106=)
c.535C= (p.Leu179=)
19g.29702765G>TCA405142422C19orf12c.373C>A (p.Leu125Met)
n.764C>A
c.181C>A (p.Leu61Met)
c.406C>A (p.Leu136Met)
c.318C>A (p.Cys106Ter)
c.535C>A (p.Leu179Met)
19g.29702766C>ACA405142426C19orf12c.372G>T (p.Met124Ile)
n.763G>T
c.180G>T (p.Met60Ile)
c.405G>T (p.Met135Ile)
c.317G>T (p.Cys106Phe)
c.534G>T (p.Met178Ile)
19g.29702766C=CA2330913525C19orf12c.372G= (p.Met124=)
n.763G=
c.180G= (p.Met60=)
c.405G= (p.Met135=)
c.317G= (p.Cys106=)
c.534G= (p.Met178=)
19g.29702766C>GCA405142428C19orf12c.372G>C (p.Met124Ile)
n.763G>C
c.180G>C (p.Met60Ile)
c.405G>C (p.Met135Ile)
c.317G>C (p.Cys106Ser)
c.534G>C (p.Met178Ile)
19g.29702766C>TCA405142430C19orf12c.372G>A (p.Met124Ile)
n.763G>A
c.180G>A (p.Met60Ile)
c.405G>A (p.Met135Ile)
c.317G>A (p.Cys106Tyr)
c.534G>A (p.Met178Ile)
 gnomAD v4
19g.29702767A=CA2330913526C19orf12c.371T= (p.Met124=)
n.762T=
c.179T= (p.Met60=)
c.404T= (p.Met135=)
c.316T= (p.Cys106=)
c.533T= (p.Met178=)
19g.29702767A>CCA405142431C19orf12c.371T>G (p.Met124Arg)
n.762T>G
c.179T>G (p.Met60Arg)
c.404T>G (p.Met135Arg)
c.316T>G (p.Cys106Gly)
c.533T>G (p.Met178Arg)
19g.29702767A>GCA405142434C19orf12c.371T>C (p.Met124Thr)
n.762T>C
c.179T>C (p.Met60Thr)
c.404T>C (p.Met135Thr)
c.316T>C (p.Cys106Arg)
c.533T>C (p.Met178Thr)
 ClinVar dbSNP
19g.29702767A>TCA405142432C19orf12c.371T>A (p.Met124Lys)
n.762T>A
c.179T>A (p.Met60Lys)
c.404T>A (p.Met135Lys)
c.316T>A (p.Cys106Ser)
c.533T>A (p.Met178Lys)
19g.29702767dupCA913190707C19orf12c.371dup (p.Met124IlefsTer17)
n.762dup
c.179dup (p.Met60IlefsTer17)
c.404dup (p.Met135IlefsTer17)
c.316dup (p.Cys106LeufsTer19)
c.533dup (p.Met178IlefsTer17)
 ClinVar dbSNP gnomAD v4
19g.29702768T>ACA405142436C19orf12c.370A>T (p.Met124Leu)
n.761A>T
c.178A>T (p.Met60Leu)
c.403A>T (p.Met135Leu)
c.315A>T (p.Pro105=)
c.532A>T (p.Met178Leu)
19g.29702768T>CCA306785201C19orf12c.370A>G (p.Met124Val)
n.761A>G
c.178A>G (p.Met60Val)
c.403A>G (p.Met135Val)
c.315A>G (p.Pro105=)
c.532A>G (p.Met178Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.29702768T>GCA405142437C19orf12c.370A>C (p.Met124Leu)
n.761A>C
c.178A>C (p.Met60Leu)
c.403A>C (p.Met135Leu)
c.315A>C (p.Pro105=)
c.532A>C (p.Met178Leu)
19g.29702768T=CA2330913527C19orf12c.370A= (p.Met124=)
n.761A=
c.178A= (p.Met60=)
c.403A= (p.Met135=)
c.315A= (p.Pro105=)
c.532A= (p.Met178=)
19g.29702769G>ACA405142440C19orf12c.369C>T (p.Ala123=)
n.760C>T
c.177C>T (p.Ala59=)
c.402C>T (p.Ala134=)
c.314C>T (p.Pro105Leu)
c.531C>T (p.Ala177=)
19g.29702769G>CCA405142443C19orf12c.369C>G (p.Ala123=)
n.760C>G
c.177C>G (p.Ala59=)
c.402C>G (p.Ala134=)
c.314C>G (p.Pro105Arg)
c.531C>G (p.Ala177=)
19g.29702769G>TCA405142445C19orf12c.369C>A (p.Ala123=)
n.760C>A
c.177C>A (p.Ala59=)
c.402C>A (p.Ala134=)
c.314C>A (p.Pro105Gln)
c.531C>A (p.Ala177=)
19g.29702770G>ACA405142448C19orf12c.368C>T (p.Ala123Val)
n.759C>T
c.176C>T (p.Ala59Val)
c.401C>T (p.Ala134Val)
c.313C>T (p.Pro105Ser)
c.530C>T (p.Ala177Val)
19g.29702770G>CCA405142449C19orf12c.368C>G (p.Ala123Gly)
n.759C>G
c.176C>G (p.Ala59Gly)
c.401C>G (p.Ala134Gly)
c.313C>G (p.Pro105Ala)
c.530C>G (p.Ala177Gly)
19g.29702770G>TCA405142452C19orf12c.368C>A (p.Ala123Asp)
n.759C>A
c.176C>A (p.Ala59Asp)
c.401C>A (p.Ala134Asp)
c.313C>A (p.Pro105Thr)
c.530C>A (p.Ala177Asp)
19g.29702771C>ACA405142456C19orf12c.367G>T (p.Ala123Ser)
n.758G>T
c.175G>T (p.Ala59Ser)
c.400G>T (p.Ala134Ser)
c.312G>T (p.Trp104Cys)
c.529G>T (p.Ala177Ser)
 gnomAD v4
19g.29702771C=CA2330913528C19orf12c.367G= (p.Ala123=)
n.758G=
c.175G= (p.Ala59=)
c.400G= (p.Ala134=)
c.312G= (p.Trp104=)
c.529G= (p.Ala177=)
19g.29702771C>GCA405142461C19orf12c.367G>C (p.Ala123Pro)
n.758G>C
c.175G>C (p.Ala59Pro)
c.400G>C (p.Ala134Pro)
c.312G>C (p.Trp104Cys)
c.529G>C (p.Ala177Pro)
 dbSNP gnomAD v4
19g.29702771C>TCA405142463C19orf12c.367G>A (p.Ala123Thr)
n.758G>A
c.175G>A (p.Ala59Thr)
c.400G>A (p.Ala134Thr)
c.312G>A (p.Trp104Ter)
c.529G>A (p.Ala177Thr)
19g.29702772C>ACA405142469C19orf12c.366G>T (p.Leu122=)
n.757G>T
c.174G>T (p.Leu58=)
c.399G>T (p.Leu133=)
c.311G>T (p.Trp104Leu)
c.528G>T (p.Leu176=)
19g.29702772C>GCA405142466C19orf12c.366G>C (p.Leu122=)
n.757G>C
c.174G>C (p.Leu58=)
c.399G>C (p.Leu133=)
c.311G>C (p.Trp104Ser)
c.528G>C (p.Leu176=)
19g.29702772C>TCA405142467C19orf12c.366G>A (p.Leu122=)
n.757G>A
c.174G>A (p.Leu58=)
c.399G>A (p.Leu133=)
c.311G>A (p.Trp104Ter)
c.528G>A (p.Leu176=)
19g.29702773A>CCA405142471C19orf12c.365T>G (p.Leu122Arg)
n.756T>G
c.173T>G (p.Leu58Arg)
c.398T>G (p.Leu133Arg)
c.310T>G (p.Trp104Gly)
c.527T>G (p.Leu176Arg)
19g.29702773A>GCA405142473C19orf12c.365T>C (p.Leu122Pro)
n.756T>C
c.173T>C (p.Leu58Pro)
c.398T>C (p.Leu133Pro)
c.310T>C (p.Trp104Arg)
c.527T>C (p.Leu176Pro)
19g.29702773A>TCA405142476C19orf12c.365T>A (p.Leu122Gln)
n.756T>A
c.173T>A (p.Leu58Gln)
c.398T>A (p.Leu133Gln)
c.310T>A (p.Trp104Arg)
c.527T>A (p.Leu176Gln)
19g.29702774G>ACA506986674C19orf12c.364C>T (p.Leu122=)
n.755C>T
c.172C>T (p.Leu58=)
c.397C>T (p.Leu133=)
c.309C>T (p.Cys103=)
c.526C>T (p.Leu176=)
 dbSNP gnomAD v3 gnomAD v4
19g.29702774G>CCA405142479C19orf12c.364C>G (p.Leu122Val)
n.755C>G
c.172C>G (p.Leu58Val)
c.397C>G (p.Leu133Val)
c.309C>G (p.Cys103Trp)
c.526C>G (p.Leu176Val)
19g.29702774G=CA2330913529C19orf12c.364C= (p.Leu122=)
n.755C=
c.172C= (p.Leu58=)
c.397C= (p.Leu133=)
c.309C= (p.Cys103=)
c.526C= (p.Leu176=)
19g.29702774G>TCA405142480C19orf12c.364C>A (p.Leu122Met)
n.755C>A
c.172C>A (p.Leu58Met)
c.397C>A (p.Leu133Met)
c.309C>A (p.Cys103Ter)
c.526C>A (p.Leu176Met)
19g.29702775C>ACA405142489C19orf12c.363G>T (p.Leu121=)
n.754G>T
c.171G>T (p.Leu57=)
c.396G>T (p.Leu132=)
c.308G>T (p.Cys103Phe)
c.525G>T (p.Leu175=)
 dbSNP gnomAD v3 gnomAD v4
19g.29702775C=CA2330913530C19orf12c.363G= (p.Leu121=)
n.754G=
c.171G= (p.Leu57=)
c.396G= (p.Leu132=)
c.308G= (p.Cys103=)
c.525G= (p.Leu175=)
19g.29702775C>GCA405142486C19orf12c.363G>C (p.Leu121=)
n.754G>C
c.171G>C (p.Leu57=)
c.396G>C (p.Leu132=)
c.308G>C (p.Cys103Ser)
c.525G>C (p.Leu175=)
19g.29702775C>TCA405142484C19orf12c.363G>A (p.Leu121=)
n.754G>A
c.171G>A (p.Leu57=)
c.396G>A (p.Leu132=)
c.308G>A (p.Cys103Tyr)
c.525G>A (p.Leu175=)
19g.29702776A=CA2330913531C19orf12c.362T= (p.Leu121=)
n.753T=
c.170T= (p.Leu57=)
c.395T= (p.Leu132=)
c.307T= (p.Cys103=)
c.524T= (p.Leu175=)
19g.29702776A>CCA405142491C19orf12c.362T>G (p.Leu121Arg)
n.753T>G
c.170T>G (p.Leu57Arg)
c.395T>G (p.Leu132Arg)
c.307T>G (p.Cys103Gly)
c.524T>G (p.Leu175Arg)
19g.29702776A>GCA405142494C19orf12c.362T>C (p.Leu121Pro)
n.753T>C
c.170T>C (p.Leu57Pro)
c.395T>C (p.Leu132Pro)
c.307T>C (p.Cys103Arg)
c.524T>C (p.Leu175Pro)
 gnomAD v4
19g.29702776A>TCA260038C19orf12c.362T>A (p.Leu121Gln)
n.753T>A
c.170T>A (p.Leu57Gln)
c.395T>A (p.Leu132Gln)
c.307T>A (p.Cys103Ser)
c.524T>A (p.Leu175Gln)
 ClinVar dbSNP
19g.29702777G>ACA506986694C19orf12c.361C>T (p.Leu121=)
n.752C>T
c.169C>T (p.Leu57=)
c.394C>T (p.Leu132=)
c.306C>T (p.Ser102=)
c.523C>T (p.Leu175=)
19g.29702777G>CCA405142500C19orf12c.361C>G (p.Leu121Val)
n.752C>G
c.169C>G (p.Leu57Val)
c.394C>G (p.Leu132Val)
c.306C>G (p.Ser102Arg)
c.523C>G (p.Leu175Val)
19g.29702777G>TCA405142501C19orf12c.361C>A (p.Leu121Met)
n.752C>A
c.169C>A (p.Leu57Met)
c.394C>A (p.Leu132Met)
c.306C>A (p.Ser102Arg)
c.523C>A (p.Leu175Met)
19g.29702785_29702787dupCA9351873C19orf12c.359_361dup (p.Gln120_Leu121insGln)
n.750_752dup
c.167_169dup (p.Gln56_Leu57insGln)
c.392_394dup (p.Gln131_Leu132insGln)
c.304_306dup (p.Ser102_Cys103insSer)
c.521_523dup (p.Gln174_Leu175insGln)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.29702778C>ACA405142508C19orf12c.360G>T (p.Gln120His)
n.751G>T
c.168G>T (p.Gln56His)
c.393G>T (p.Gln131His)
c.305G>T (p.Ser102Ile)
c.522G>T (p.Gln174His)
19g.29702778C>GCA405142505C19orf12c.360G>C (p.Gln120His)
n.751G>C
c.168G>C (p.Gln56His)
c.393G>C (p.Gln131His)
c.305G>C (p.Ser102Thr)
c.522G>C (p.Gln174His)
19g.29702778C>TCA405142506C19orf12c.360G>A (p.Gln120=)
n.751G>A
c.168G>A (p.Gln56=)
c.393G>A (p.Gln131=)
c.305G>A (p.Ser102Asn)
c.522G>A (p.Gln174=)
19g.29702779T>ACA405142511C19orf12c.359A>T (p.Gln120Leu)
n.750A>T
c.167A>T (p.Gln56Leu)
c.392A>T (p.Gln131Leu)
c.304A>T (p.Ser102Cys)
c.521A>T (p.Gln174Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.29702779T>CCA405142514C19orf12c.359A>G (p.Gln120Arg)
n.750A>G
c.167A>G (p.Gln56Arg)
c.392A>G (p.Gln131Arg)
c.304A>G (p.Ser102Gly)
c.521A>G (p.Gln174Arg)
 COSMIC COSMIC
19g.29702779T>GCA405142516C19orf12c.359A>C (p.Gln120Pro)
n.750A>C
c.167A>C (p.Gln56Pro)
c.392A>C (p.Gln131Pro)
c.304A>C (p.Ser102Arg)
c.521A>C (p.Gln174Pro)
19g.29702779T=CA2330913532C19orf12c.359A= (p.Gln120=)
n.750A=
c.167A= (p.Gln56=)
c.392A= (p.Gln131=)
c.304A= (p.Ser102=)
c.521A= (p.Gln174=)
19g.29702780G>ACA405142519C19orf12c.358C>T (p.Gln120Ter)
n.749C>T
c.166C>T (p.Gln56Ter)
c.391C>T (p.Gln131Ter)
c.303C>T (p.Ser101=)
c.520C>T (p.Gln174Ter)
 gnomAD v4
19g.29702780G>CCA405142521C19orf12c.358C>G (p.Gln120Glu)
n.749C>G
c.166C>G (p.Gln56Glu)
c.391C>G (p.Gln131Glu)
c.303C>G (p.Ser101Arg)
c.520C>G (p.Gln174Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.29702780G=CA2330913533C19orf12c.358C= (p.Gln120=)
n.749C=
c.166C= (p.Gln56=)
c.391C= (p.Gln131=)
c.303C= (p.Ser101=)
c.520C= (p.Gln174=)
19g.29702780G>TCA405142524C19orf12c.358C>A (p.Gln120Lys)
n.749C>A
c.166C>A (p.Gln56Lys)
c.391C>A (p.Gln131Lys)
c.303C>A (p.Ser101Arg)
c.520C>A (p.Gln174Lys)
19g.29702781C>ACA405142528C19orf12c.357G>T (p.Gln119His)
n.748G>T
c.165G>T (p.Gln55His)
c.390G>T (p.Gln130His)
c.302G>T (p.Ser101Ile)
c.519G>T (p.Gln173His)
19g.29702781C=CA2330913534C19orf12c.357G= (p.Gln119=)
n.748G=
c.165G= (p.Gln55=)
c.390G= (p.Gln130=)
c.302G= (p.Ser101=)
c.519G= (p.Gln173=)
19g.29702781C>GCA405142529C19orf12c.357G>C (p.Gln119His)
n.748G>C
c.165G>C (p.Gln55His)
c.390G>C (p.Gln130His)
c.302G>C (p.Ser101Thr)
c.519G>C (p.Gln173His)
 dbSNP gnomAD v2 gnomAD v4
19g.29702781C>TCA405142532C19orf12c.357G>A (p.Gln119=)
n.748G>A
c.165G>A (p.Gln55=)
c.390G>A (p.Gln130=)
c.302G>A (p.Ser101Asn)
c.519G>A (p.Gln173=)
 COSMIC COSMIC
19g.29702782T>ACA405142535C19orf12c.356A>T (p.Gln119Leu)
n.747A>T
c.164A>T (p.Gln55Leu)
c.389A>T (p.Gln130Leu)
c.301A>T (p.Ser101Cys)
c.518A>T (p.Gln173Leu)
19g.29702782T>CCA306785205C19orf12c.356A>G (p.Gln119Arg)
n.747A>G
c.164A>G (p.Gln55Arg)
c.389A>G (p.Gln130Arg)
c.301A>G (p.Ser101Gly)
c.518A>G (p.Gln173Arg)
 ClinVar dbSNP
19g.29702782T>GCA405142539C19orf12c.356A>C (p.Gln119Pro)
n.747A>C
c.164A>C (p.Gln55Pro)
c.389A>C (p.Gln130Pro)
c.301A>C (p.Ser101Arg)
c.518A>C (p.Gln173Pro)
19g.29702782T=CA2330913535C19orf12c.356A= (p.Gln119=)
n.747A=
c.164A= (p.Gln55=)
c.389A= (p.Gln130=)
c.301A= (p.Ser101=)
c.518A= (p.Gln173=)
19g.29702783G>ACA405142542C19orf12c.355C>T (p.Gln119Ter)
n.746C>T
c.163C>T (p.Gln55Ter)
c.388C>T (p.Gln130Ter)
c.300C>T (p.Ser100=)
c.517C>T (p.Gln173Ter)
19g.29702783G>CCA405142546C19orf12c.355C>G (p.Gln119Glu)
n.746C>G
c.163C>G (p.Gln55Glu)
c.388C>G (p.Gln130Glu)
c.300C>G (p.Ser100Arg)
c.517C>G (p.Gln173Glu)
19g.29702783G>TCA405142544C19orf12c.355C>A (p.Gln119Lys)
n.746C>A
c.163C>A (p.Gln55Lys)
c.388C>A (p.Gln130Lys)
c.300C>A (p.Ser100Arg)
c.517C>A (p.Gln173Lys)
19g.29702788_29702800delCA2576739842C19orf12c.343_355del (p.Glu115SerfsTer8)
n.734_746del
c.151_163del (p.Glu51SerfsTer8)
c.376_388del (p.Glu126SerfsTer8)
c.291-3_300del
c.505_517del (p.Glu169SerfsTer8)
 gnomAD v4
19g.29702784C>ACA405142549C19orf12c.354G>T (p.Gln118His)
n.745G>T
c.162G>T (p.Gln54His)
c.387G>T (p.Gln129His)
c.299G>T (p.Ser100Ile)
c.516G>T (p.Gln172His)
19g.29702784C>GCA405142551C19orf12c.354G>C (p.Gln118His)
n.745G>C
c.162G>C (p.Gln54His)
c.387G>C (p.Gln129His)
c.299G>C (p.Ser100Thr)
c.516G>C (p.Gln172His)
19g.29702784C>TCA405142553C19orf12c.354G>A (p.Gln118=)
n.745G>A
c.162G>A (p.Gln54=)
c.387G>A (p.Gln129=)
c.299G>A (p.Ser100Asn)
c.516G>A (p.Gln172=)
19g.29702785T>ACA405142557C19orf12c.353A>T (p.Gln118Leu)
n.744A>T
c.161A>T (p.Gln54Leu)
c.386A>T (p.Gln129Leu)
c.298A>T (p.Ser100Cys)
c.515A>T (p.Gln172Leu)
19g.29702785T>CCA405142559C19orf12c.353A>G (p.Gln118Arg)
n.744A>G
c.161A>G (p.Gln54Arg)
c.386A>G (p.Gln129Arg)
c.298A>G (p.Ser100Gly)
c.515A>G (p.Gln172Arg)
19g.29702785T>GCA405142562C19orf12c.353A>C (p.Gln118Pro)
n.744A>C
c.161A>C (p.Gln54Pro)
c.386A>C (p.Gln129Pro)
c.298A>C (p.Ser100Arg)
c.515A>C (p.Gln172Pro)
19g.29702785dupCA2584189484C19orf12c.353dup (p.Gln119AlafsTer22)
n.744dup
c.161dup (p.Gln55AlafsTer22)
c.386dup (p.Gln130AlafsTer22)
c.298dup (p.Ser100LysfsTer25)
c.515dup (p.Gln173AlafsTer22)
 gnomAD v4
19g.29702786G>ACA405142570C19orf12c.352C>T (p.Gln118Ter)
n.743C>T
c.160C>T (p.Gln54Ter)
c.385C>T (p.Gln129Ter)
c.297C>T (p.Cys99=)
c.514C>T (p.Gln172Ter)
19g.29702786G>CCA405142567C19orf12c.352C>G (p.Gln118Glu)
n.743C>G
c.160C>G (p.Gln54Glu)
c.385C>G (p.Gln129Glu)
c.297C>G (p.Cys99Trp)
c.514C>G (p.Gln172Glu)
19g.29702786G>TCA405142565C19orf12c.352C>A (p.Gln118Lys)
n.743C>A
c.160C>A (p.Gln54Lys)
c.385C>A (p.Gln129Lys)
c.297C>A (p.Cys99Ter)
c.514C>A (p.Gln172Lys)
19g.29702787C>ACA405142573C19orf12c.351G>T (p.Leu117=)
n.742G>T
c.159G>T (p.Leu53=)
c.384G>T (p.Leu128=)
c.296G>T (p.Cys99Phe)
c.513G>T (p.Leu171=)
19g.29702787C>GCA405142575C19orf12c.351G>C (p.Leu117=)
n.742G>C
c.159G>C (p.Leu53=)
c.384G>C (p.Leu128=)
c.296G>C (p.Cys99Ser)
c.513G>C (p.Leu171=)
19g.29702787C>TCA405142578C19orf12c.351G>A (p.Leu117=)
n.742G>A
c.159G>A (p.Leu53=)
c.384G>A (p.Leu128=)
c.296G>A (p.Cys99Tyr)
c.513G>A (p.Leu171=)
 gnomAD v4
19g.29702787_29702788delCA2499512250C19orf12c.350_351del (p.Leu117ProfsTer23)
n.741_742del
c.158_159del (p.Leu53ProfsTer23)
c.383_384del (p.Leu128ProfsTer23)
c.295_296del (p.Cys99GlnfsTer25)
c.512_513del (p.Leu171ProfsTer23)
19g.29702788A=CA2330913536C19orf12c.350T= (p.Leu117=)
n.741T=
c.158T= (p.Leu53=)
c.383T= (p.Leu128=)
c.295T= (p.Cys99=)
c.512T= (p.Leu171=)
19g.29702788A>CCA405142581C19orf12c.350T>G (p.Leu117Arg)
n.741T>G
c.158T>G (p.Leu53Arg)
c.383T>G (p.Leu128Arg)
c.295T>G (p.Cys99Gly)
c.512T>G (p.Leu171Arg)
19g.29702788A>GCA405142582C19orf12c.350T>C (p.Leu117Pro)
n.741T>C
c.158T>C (p.Leu53Pro)
c.383T>C (p.Leu128Pro)
c.295T>C (p.Cys99Arg)
c.512T>C (p.Leu171Pro)
 dbSNP
19g.29702788A>TCA405142585C19orf12c.350T>A (p.Leu117Gln)
n.741T>A
c.158T>A (p.Leu53Gln)
c.383T>A (p.Leu128Gln)
c.295T>A (p.Cys99Ser)
c.512T>A (p.Leu171Gln)
19g.29702789G>ACA9351874C19orf12c.349C>T
c.349C>T (p.Leu117=)
n.740C>T
c.157C>T (p.Leu53=)
c.382C>T (p.Leu128=)
c.294C>T (p.Pro98=)
c.511C>T (p.Leu171=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.29702789G>CCA405142592C19orf12c.349C>G
c.349C>G (p.Leu117Val)
n.740C>G
c.157C>G (p.Leu53Val)
c.382C>G (p.Leu128Val)
c.294C>G (p.Pro98=)
c.511C>G (p.Leu171Val)
19g.29702789G=CA2330913537C19orf12c.349C=
c.349C= (p.Leu117=)
n.740C=
c.157C= (p.Leu53=)
c.382C= (p.Leu128=)
c.294C= (p.Pro98=)
c.511C= (p.Leu171=)
19g.29702789G>TCA405142590C19orf12c.349C>A
c.349C>A (p.Leu117Met)
n.740C>A
c.157C>A (p.Leu53Met)
c.382C>A (p.Leu128Met)
c.294C>A (p.Pro98=)
c.511C>A (p.Leu171Met)
19g.29702790G>ACA405142594C19orf12c.348C>T (p.Ala116=)
n.739C>T
c.156C>T (p.Ala52=)
c.381C>T (p.Ala127=)
c.293C>T (p.Pro98Leu)
c.510C>T (p.Ala170=)
19g.29702790G>CCA405142596C19orf12c.348C>G (p.Ala116=)
n.739C>G
c.156C>G (p.Ala52=)
c.381C>G (p.Ala127=)
c.293C>G (p.Pro98Arg)
c.510C>G (p.Ala170=)
19g.29702790G>TCA405142598C19orf12c.348C>A (p.Ala116=)
n.739C>A
c.156C>A (p.Ala52=)
c.381C>A (p.Ala127=)
c.293C>A (p.Pro98His)
c.510C>A (p.Ala170=)
19g.29702790_29702800delCA2549114375C19orf12c.338_348del (p.Gly113=)
c.338_348del (p.Gly113AlafsTer24)
n.729_739del
c.146_156del (p.Gly49AlafsTer24)
c.371_381del (p.Gly124AlafsTer24)
c.291-8_293del
c.500_510del (p.Gly167AlafsTer24)
19g.29702791G>ACA405142601C19orf12c.347C>T (p.Ala116Val)
n.738C>T
c.155C>T (p.Ala52Val)
c.380C>T (p.Ala127Val)
c.292C>T (p.Pro98Ser)
c.509C>T (p.Ala170Val)
 dbSNP
19g.29702791G>CCA405142603C19orf12c.347C>G (p.Ala116Gly)
n.738C>G
c.155C>G (p.Ala52Gly)
c.380C>G (p.Ala127Gly)
c.292C>G (p.Pro98Ala)
c.509C>G (p.Ala170Gly)
 gnomAD v4
19g.29702791G=CA2330913538C19orf12c.347C= (p.Ala116=)
n.738C=
c.155C= (p.Ala52=)
c.380C= (p.Ala127=)
c.292C= (p.Pro98=)
c.509C= (p.Ala170=)
19g.29702791G>TCA405142606C19orf12c.347C>A (p.Ala116Asp)
n.738C>A
c.155C>A (p.Ala52Asp)
c.380C>A (p.Ala127Asp)
c.292C>A (p.Pro98Thr)
c.509C>A (p.Ala170Asp)
 ClinVar gnomAD v4
19g.29702792C>ACA405142608C19orf12c.346G>T (p.Ala116Ser)
n.737G>T
c.154G>T (p.Ala52Ser)
c.379G>T (p.Ala127Ser)
c.291G>T (p.Arg97Ser)
c.508G>T (p.Ala170Ser)
19g.29702792C=CA2330913539C19orf12c.346G= (p.Ala116=)
n.737G=
c.154G= (p.Ala52=)
c.379G= (p.Ala127=)
c.291G= (p.Arg97=)
c.508G= (p.Ala170=)
19g.29702792C>GCA405142611C19orf12c.346G>C (p.Ala116Pro)
n.737G>C
c.154G>C (p.Ala52Pro)
c.379G>C (p.Ala127Pro)
c.291G>C (p.Arg97Ser)
c.508G>C (p.Ala170Pro)
19g.29702792C>TCA306785208C19orf12c.346G>A (p.Ala116Thr)
n.737G>A
c.154G>A (p.Ala52Thr)
c.379G>A (p.Ala127Thr)
c.291G>A (p.Arg97=)
c.508G>A (p.Ala170Thr)
 dbSNP gnomAD v3 gnomAD v4
19g.29702793C>ACA405142615C19orf12c.345G>T (p.Glu115Asp)
n.736G>T
c.153G>T (p.Glu51Asp)
c.378G>T (p.Glu126Asp)
c.291-1G>T (n.291-1G>T)
c.507G>T (p.Glu169Asp)
19g.29702793C=CA2330913540C19orf12c.345G= (p.Glu115=)
n.736G=
c.153G= (p.Glu51=)
c.378G= (p.Glu126=)
c.291-1G= (n.291-1G=)
c.507G= (p.Glu169=)
19g.29702793C>GCA405142617C19orf12c.345G>C (p.Glu115Asp)
n.736G>C
c.153G>C (p.Glu51Asp)
c.378G>C (p.Glu126Asp)
c.291-1G>C (n.291-1G>C)
c.507G>C (p.Glu169Asp)
19g.29702793C>TCA9351875C19orf12c.345G>A (p.Glu115=)
n.736G>A
c.153G>A (p.Glu51=)
c.378G>A (p.Glu126=)
c.291-1G>A (n.291-1G>A)
c.507G>A (p.Glu169=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.29702794T>ACA405142622C19orf12c.344A>T (p.Glu115Val)
n.735A>T
c.152A>T (p.Glu51Val)
c.377A>T (p.Glu126Val)
c.291-2A>T (n.291-2A>T)
c.506A>T (p.Glu169Val)
19g.29702794T>CCA405142625C19orf12c.344A>G (p.Glu115Gly)
n.735A>G
c.152A>G (p.Glu51Gly)
c.377A>G (p.Glu126Gly)
c.291-2A>G (n.291-2A>G)
c.506A>G (p.Glu169Gly)
19g.29702794T>GCA405142623C19orf12c.344A>C (p.Glu115Ala)
n.735A>C
c.152A>C (p.Glu51Ala)
c.377A>C (p.Glu126Ala)
c.291-2A>C (n.291-2A>C)
c.506A>C (p.Glu169Ala)
19g.29702795C>ACA405142628C19orf12c.343G>T (p.Glu115Ter)
n.734G>T
c.151G>T (p.Glu51Ter)
c.376G>T (p.Glu126Ter)
c.291-3G>T (n.291-3G>T)
c.505G>T (p.Glu169Ter)
19g.29702795C=CA2330913541C19orf12c.343G= (p.Glu115=)
n.734G=
c.151G= (p.Glu51=)
c.376G= (p.Glu126=)
c.291-3G= (n.291-3G=)
c.505G= (p.Glu169=)
19g.29702795C>GCA405142630C19orf12c.343G>C (p.Glu115Gln)
n.734G>C
c.151G>C (p.Glu51Gln)
c.376G>C (p.Glu126Gln)
c.291-3G>C (n.291-3G>C)
c.505G>C (p.Glu169Gln)
19g.29702795C>TCA9351876C19orf12c.343G>A (p.Glu115Lys)
n.734G>A
c.151G>A (p.Glu51Lys)
c.376G>A (p.Glu126Lys)
c.291-3G>A (n.291-3G>A)
c.505G>A (p.Glu169Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702796G>ACA9351877C19orf12c.342C>T (p.Ser114=)
n.733C>T
c.150C>T (p.Ser50=)
c.375C>T (p.Ser125=)
c.291-4C>T (n.291-4C>T)
c.504C>T (p.Ser168=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702796G>CCA405142636C19orf12c.342C>G (p.Ser114Arg)
n.733C>G
c.150C>G (p.Ser50Arg)
c.375C>G (p.Ser125Arg)
c.291-4C>G (n.291-4C>G)
c.504C>G (p.Ser168Arg)
19g.29702796G=CA2330913542C19orf12c.342C= (p.Ser114=)
n.733C=
c.150C= (p.Ser50=)
c.375C= (p.Ser125=)
c.291-4C= (n.291-4C=)
c.504C= (p.Ser168=)
19g.29702796G>TCA405142637C19orf12c.342C>A (p.Ser114Arg)
n.733C>A
c.150C>A (p.Ser50Arg)
c.375C>A (p.Ser125Arg)
c.291-4C>A (n.291-4C>A)
c.504C>A (p.Ser168Arg)
19g.29702797C>ACA405142640C19orf12c.341G>T (p.Ser114Ile)
n.732G>T
c.149G>T (p.Ser50Ile)
c.374G>T (p.Ser125Ile)
c.291-5G>T (n.291-5G>T)
c.503G>T (p.Ser168Ile)
19g.29702797C>GCA405142642C19orf12c.341G>C (p.Ser114Thr)
n.732G>C
c.149G>C (p.Ser50Thr)
c.374G>C (p.Ser125Thr)
c.291-5G>C (n.291-5G>C)
c.503G>C (p.Ser168Thr)
19g.29702797C>TCA405142644C19orf12c.341G>A (p.Ser114Asn)
n.732G>A
c.149G>A (p.Ser50Asn)
c.374G>A (p.Ser125Asn)
c.291-5G>A (n.291-5G>A)
c.503G>A (p.Ser168Asn)
19g.29702798T>ACA405142647C19orf12c.340A>T (p.Ser114Cys)
n.731A>T
c.148A>T (p.Ser50Cys)
c.373A>T (p.Ser125Cys)
c.291-6A>T (n.291-6A>T)
c.502A>T (p.Ser168Cys)
19g.29702798T>CCA405142649C19orf12c.340A>G (p.Ser114Gly)
n.731A>G
c.148A>G (p.Ser50Gly)
c.373A>G (p.Ser125Gly)
c.291-6A>G (n.291-6A>G)
c.502A>G (p.Ser168Gly)
19g.29702798T>GCA405142652C19orf12c.340A>C (p.Ser114Arg)
n.731A>C
c.148A>C (p.Ser50Arg)
c.373A>C (p.Ser125Arg)
c.291-6A>C (n.291-6A>C)
c.502A>C (p.Ser168Arg)
19g.29702799G>ACA506986834C19orf12c.339C>T (p.Gly113=)
n.730C>T
c.147C>T (p.Gly49=)
c.372C>T (p.Gly124=)
c.291-7C>T (n.291-7C>T)
c.501C>T (p.Gly167=)
19g.29702799G>CCA506986831C19orf12c.339C>G (p.Gly113=)
n.730C>G
c.147C>G (p.Gly49=)
c.372C>G (p.Gly124=)
c.291-7C>G (n.291-7C>G)
c.501C>G (p.Gly167=)
19g.29702799G>TCA506986829C19orf12c.339C>A (p.Gly113=)
n.730C>A
c.147C>A (p.Gly49=)
c.372C>A (p.Gly124=)
c.291-7C>A (n.291-7C>A)
c.501C>A (p.Gly167=)
19g.29702800C>ACA405142659C19orf12c.338G>T (p.Gly113Val)
n.729G>T
c.146G>T (p.Gly49Val)
c.371G>T (p.Gly124Val)
c.291-8G>T (n.291-8G>T)
c.500G>T (p.Gly167Val)
19g.29702800C=CA2330913543C19orf12c.338G= (p.Gly113=)
n.729G=
c.146G= (p.Gly49=)
c.371G= (p.Gly124=)
c.291-8G= (n.291-8G=)
c.500G= (p.Gly167=)
19g.29702800C>GCA405142657C19orf12c.338G>C (p.Gly113Ala)
n.729G>C
c.146G>C (p.Gly49Ala)
c.371G>C (p.Gly124Ala)
c.291-8G>C (n.291-8G>C)
c.500G>C (p.Gly167Ala)
19g.29702800C>TCA306785242C19orf12c.338G>A (p.Gly113Asp)
n.729G>A
c.146G>A (p.Gly49Asp)
c.371G>A (p.Gly124Asp)
c.291-8G>A (n.291-8G>A)
c.500G>A (p.Gly167Asp)
 dbSNP
19g.29702801C>ACA405142660C19orf12c.337G>T (p.Gly113Cys)
n.728G>T
c.145G>T (p.Gly49Cys)
c.370G>T (p.Gly124Cys)
c.291-9G>T (n.291-9G>T)
c.499G>T (p.Gly167Cys)
19g.29702801C=CA2330913544C19orf12c.337G= (p.Gly113=)
n.728G=
c.145G= (p.Gly49=)
c.370G= (p.Gly124=)
c.291-9G= (n.291-9G=)
c.499G= (p.Gly167=)
19g.29702801C>GCA405142663C19orf12c.337G>C (p.Gly113Arg)
n.728G>C
c.145G>C (p.Gly49Arg)
c.370G>C (p.Gly124Arg)
c.291-9G>C (n.291-9G>C)
c.499G>C (p.Gly167Arg)
19g.29702801C>TCA405142665C19orf12c.337G>A (p.Gly113Ser)
n.728G>A
c.145G>A (p.Gly49Ser)
c.370G>A (p.Gly124Ser)
c.291-9G>A (n.291-9G>A)
c.499G>A (p.Gly167Ser)
 dbSNP gnomAD v2 gnomAD v4
19g.29702802C>ACA405142667C19orf12c.336G>T (p.Met112Ile)
n.727G>T
c.144G>T (p.Met48Ile)
c.369G>T (p.Met123Ile)
c.291-10G>T (n.291-10G>T)
c.498G>T (p.Met166Ile)
19g.29702802C=CA2330913545C19orf12c.336G= (p.Met112=)
n.727G=
c.144G= (p.Met48=)
c.369G= (p.Met123=)
c.291-10G= (n.291-10G=)
c.498G= (p.Met166=)
19g.29702802C>GCA405142668C19orf12c.336G>C (p.Met112Ile)
n.727G>C
c.144G>C (p.Met48Ile)
c.369G>C (p.Met123Ile)
c.291-10G>C (n.291-10G>C)
c.498G>C (p.Met166Ile)
19g.29702802C>TCA405142671C19orf12c.336G>A (p.Met112Ile)
n.727G>A
c.144G>A (p.Met48Ile)
c.369G>A (p.Met123Ile)
c.291-10G>A (n.291-10G>A)
c.498G>A (p.Met166Ile)
 dbSNP gnomAD v2 gnomAD v4
19g.29702803A=CA2330913546C19orf12c.335T= (p.Met112=)
n.726T=
c.143T= (p.Met48=)
c.368T= (p.Met123=)
c.291-11T= (n.291-11T=)
c.497T= (p.Met166=)
19g.29702803A>CCA405142674C19orf12c.335T>G (p.Met112Arg)
n.726T>G
c.143T>G (p.Met48Arg)
c.368T>G (p.Met123Arg)
c.291-11T>G (n.291-11T>G)
c.497T>G (p.Met166Arg)
19g.29702803A>GCA405142676C19orf12c.335T>C (p.Met112Thr)
n.726T>C
c.143T>C (p.Met48Thr)
c.368T>C (p.Met123Thr)
c.291-11T>C (n.291-11T>C)
c.497T>C (p.Met166Thr)
19g.29702803A>TCA405142679C19orf12c.335T>A (p.Met112Lys)
n.726T>A
c.143T>A (p.Met48Lys)
c.368T>A (p.Met123Lys)
c.291-11T>A (n.291-11T>A)
c.497T>A (p.Met166Lys)
 dbSNP gnomAD v2 gnomAD v4
19g.29702804T>ACA405142682C19orf12c.334A>T (p.Met112Leu)
n.725A>T
c.142A>T (p.Met48Leu)
c.367A>T (p.Met123Leu)
c.291-12A>T (n.291-12A>T)
c.496A>T (p.Met166Leu)
19g.29702804T>CCA405142684C19orf12c.334A>G (p.Met112Val)
n.725A>G
c.142A>G (p.Met48Val)
c.367A>G (p.Met123Val)
c.291-12A>G (n.291-12A>G)
c.496A>G (p.Met166Val)
 ClinVar dbSNP
19g.29702804T>GCA405142686C19orf12c.334A>C (p.Met112Leu)
n.725A>C
c.142A>C (p.Met48Leu)
c.367A>C (p.Met123Leu)
c.291-12A>C (n.291-12A>C)
c.496A>C (p.Met166Leu)
 dbSNP
19g.29702804T=CA2330913547C19orf12c.334A= (p.Met112=)
n.725A=
c.142A= (p.Met48=)
c.367A= (p.Met123=)
c.291-12A= (n.291-12A=)
c.496A= (p.Met166=)
19g.29702805G>ACA506986867C19orf12c.333C>T (p.Val111=)
n.724C>T
c.141C>T (p.Val47=)
c.366C>T (p.Val122=)
c.291-13C>T (n.291-13C>T)
c.495C>T (p.Val165=)
19g.29702805G>CCA506986870C19orf12c.333C>G (p.Val111=)
n.724C>G
c.141C>G (p.Val47=)
c.366C>G (p.Val122=)
c.291-13C>G (n.291-13C>G)
c.495C>G (p.Val165=)
19g.29702805G>TCA506986869C19orf12c.333C>A (p.Val111=)
n.724C>A
c.141C>A (p.Val47=)
c.366C>A (p.Val122=)
c.291-13C>A (n.291-13C>A)
c.495C>A (p.Val165=)
 gnomAD v4
19g.29702806A=CA2330913548C19orf12c.332T= (p.Val111=)
n.723T=
c.140T= (p.Val47=)
c.365T= (p.Val122=)
c.291-14T= (n.291-14T=)
c.494T= (p.Val165=)
19g.29702806A>CCA405142693C19orf12c.332T>G (p.Val111Gly)
n.723T>G
c.140T>G (p.Val47Gly)
c.365T>G (p.Val122Gly)
c.291-14T>G (n.291-14T>G)
c.494T>G (p.Val165Gly)
19g.29702806A>GCA405142691C19orf12c.332T>C (p.Val111Ala)
n.723T>C
c.140T>C (p.Val47Ala)
c.365T>C (p.Val122Ala)
c.291-14T>C (n.291-14T>C)
c.494T>C (p.Val165Ala)
 ClinVar dbSNP
19g.29702806A>TCA405142690C19orf12c.332T>A (p.Val111Asp)
n.723T>A
c.140T>A (p.Val47Asp)
c.365T>A (p.Val122Asp)
c.291-14T>A (n.291-14T>A)
c.494T>A (p.Val165Asp)
 dbSNP
19g.29702807C>ACA405142696C19orf12c.331G>T (p.Val111Phe)
n.722G>T
c.139G>T (p.Val47Phe)
c.364G>T (p.Val122Phe)
c.291-15G>T (n.291-15G>T)
c.493G>T (p.Val165Phe)
19g.29702807C=CA2330913549C19orf12c.331G= (p.Val111=)
n.722G=
c.139G= (p.Val47=)
c.364G= (p.Val122=)
c.291-15G= (n.291-15G=)
c.493G= (p.Val165=)
19g.29702807C>GCA405142699C19orf12c.331G>C (p.Val111Leu)
n.722G>C
c.139G>C (p.Val47Leu)
c.364G>C (p.Val122Leu)
c.291-15G>C (n.291-15G>C)
c.493G>C (p.Val165Leu)
19g.29702807C>TCA9351878C19orf12c.331G>A (p.Val111Ile)
n.722G>A
c.139G>A (p.Val47Ile)
c.364G>A (p.Val122Ile)
c.291-15G>A (n.291-15G>A)
c.493G>A (p.Val165Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702808C>ACA506986885C19orf12c.330G>T (p.Leu110=)
n.721G>T
c.138G>T (p.Leu46=)
c.363G>T (p.Leu121=)
c.291-16G>T (n.291-16G>T)
c.492G>T (p.Leu164=)
19g.29702808C=CA2330913550C19orf12c.330G= (p.Leu110=)
n.721G=
c.138G= (p.Leu46=)
c.363G= (p.Leu121=)
c.291-16G= (n.291-16G=)
c.492G= (p.Leu164=)
19g.29702808C>GCA506986887C19orf12c.330G>C (p.Leu110=)
n.721G>C
c.138G>C (p.Leu46=)
c.363G>C (p.Leu121=)
c.291-16G>C (n.291-16G>C)
c.492G>C (p.Leu164=)
 dbSNP gnomAD v4
19g.29702808C>TCA9351879C19orf12c.330G>A (p.Leu110=)
n.721G>A
c.138G>A (p.Leu46=)
c.363G>A (p.Leu121=)
c.291-16G>A (n.291-16G>A)
c.492G>A (p.Leu164=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.29702809A=CA2330913551C19orf12c.329T= (p.Leu110=)
n.720T=
c.137T= (p.Leu46=)
c.362T= (p.Leu121=)
c.291-17T= (n.291-17T=)
c.491T= (p.Leu164=)
19g.29702809A>CCA405142705C19orf12c.329T>G (p.Leu110Arg)
n.720T>G
c.137T>G (p.Leu46Arg)
c.362T>G (p.Leu121Arg)
c.291-17T>G (n.291-17T>G)
c.491T>G (p.Leu164Arg)
19g.29702809A>GCA9351880C19orf12c.329T>C (p.Leu110Pro)
n.720T>C
c.137T>C (p.Leu46Pro)
c.362T>C (p.Leu121Pro)
c.291-17T>C (n.291-17T>C)
c.491T>C (p.Leu164Pro)
 dbSNP ExAC
19g.29702809A>TCA405142707C19orf12c.329T>A (p.Leu110Gln)
n.720T>A
c.137T>A (p.Leu46Gln)
c.362T>A (p.Leu121Gln)
c.291-17T>A (n.291-17T>A)
c.491T>A (p.Leu164Gln)
19g.29702810G>ACA506986900C19orf12c.328C>T (p.Leu110=)
n.719C>T
c.136C>T (p.Leu46=)
c.361C>T (p.Leu121=)
c.291-18C>T (n.291-18C>T)
c.490C>T (p.Leu164=)
 COSMIC COSMIC
19g.29702810G>CCA405142708C19orf12c.328C>G (p.Leu110Val)
n.719C>G
c.136C>G (p.Leu46Val)
c.361C>G (p.Leu121Val)
c.291-18C>G (n.291-18C>G)
c.490C>G (p.Leu164Val)
19g.29702810G>TCA405142710C19orf12c.328C>A (p.Leu110Met)
n.719C>A
c.136C>A (p.Leu46Met)
c.361C>A (p.Leu121Met)
c.291-18C>A (n.291-18C>A)
c.490C>A (p.Leu164Met)
19g.29702811C>ACA506986904C19orf12c.327G>T (p.Ala109=)
n.718G>T
c.135G>T (p.Ala45=)
c.360G>T (p.Ala120=)
c.291-19G>T (n.291-19G>T)
c.489G>T (p.Ala163=)
 dbSNP gnomAD v2 gnomAD v4
19g.29702811C=CA2330913552C19orf12c.327G= (p.Ala109=)
n.718G=
c.135G= (p.Ala45=)
c.360G= (p.Ala120=)
c.291-19G= (n.291-19G=)
c.489G= (p.Ala163=)
19g.29702811C>GCA506986907C19orf12c.327G>C (p.Ala109=)
n.718G>C
c.135G>C (p.Ala45=)
c.360G>C (p.Ala120=)
c.291-19G>C (n.291-19G>C)
c.489G>C (p.Ala163=)
19g.29702811C>TCA9351881C19orf12c.327G>A (p.Ala109=)
n.718G>A
c.135G>A (p.Ala45=)
c.360G>A (p.Ala120=)
c.291-19G>A (n.291-19G>A)
c.489G>A (p.Ala163=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.29702812G>ACA9351882C19orf12c.326C>T (p.Ala109Val)
n.717C>T
c.134C>T (p.Ala45Val)
c.359C>T (p.Ala120Val)
c.291-20C>T (n.291-20C>T)
c.488C>T (p.Ala163Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702812G>CCA405142714C19orf12c.326C>G (p.Ala109Gly)
n.717C>G
c.134C>G (p.Ala45Gly)
c.359C>G (p.Ala120Gly)
c.291-20C>G (n.291-20C>G)
c.488C>G (p.Ala163Gly)
19g.29702812G=CA2330913553C19orf12c.326C= (p.Ala109=)
n.717C=
c.134C= (p.Ala45=)
c.359C= (p.Ala120=)
c.291-20C= (n.291-20C=)
c.488C= (p.Ala163=)
19g.29702812G>TCA405142716C19orf12c.326C>A (p.Ala109Glu)
n.717C>A
c.134C>A (p.Ala45Glu)
c.359C>A (p.Ala120Glu)
c.291-20C>A (n.291-20C>A)
c.488C>A (p.Ala163Glu)
19g.29702813C>ACA405142719C19orf12c.325G>T (p.Ala109Ser)
n.716G>T
c.133G>T (p.Ala45Ser)
c.358G>T (p.Ala120Ser)
c.291-21G>T (n.291-21G>T)
c.487G>T (p.Ala163Ser)
19g.29702813C=CA2330913554C19orf12c.325G= (p.Ala109=)
n.716G=
c.133G= (p.Ala45=)
c.358G= (p.Ala120=)
c.291-21G= (n.291-21G=)
c.487G= (p.Ala163=)
19g.29702813C>GCA405142721C19orf12c.325G>C (p.Ala109Pro)
n.716G>C
c.133G>C (p.Ala45Pro)
c.358G>C (p.Ala120Pro)
c.291-21G>C (n.291-21G>C)
c.487G>C (p.Ala163Pro)
19g.29702813C>TCA405142723C19orf12c.325G>A (p.Ala109Thr)
n.716G>A
c.133G>A (p.Ala45Thr)
c.358G>A (p.Ala120Thr)
c.291-21G>A (n.291-21G>A)
c.487G>A (p.Ala163Thr)
 dbSNP
19g.29702813dupCA2695228505C19orf12c.325dup (p.Ala109GlyfsTer?)
n.716dup
c.133dup (p.Ala45GlyfsTer?)
c.358dup (p.Ala120GlyfsTer?)
c.291-21dup (n.291-21dup)
c.487dup (p.Ala163GlyfsTer?)
19g.29702814G>ACA152059C19orf12c.324C>T (p.Thr108=)
n.715C>T
c.132C>T (p.Thr44=)
c.357C>T (p.Thr119=)
c.291-22C>T (n.291-22C>T)
c.486C>T (p.Thr162=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702814G>CCA506986925C19orf12c.324C>G (p.Thr108=)
n.715C>G
c.132C>G (p.Thr44=)
c.357C>G (p.Thr119=)
c.291-22C>G (n.291-22C>G)
c.486C>G (p.Thr162=)
19g.29702814G=CA2330913555C19orf12c.324C= (p.Thr108=)
n.715C=
c.132C= (p.Thr44=)
c.357C= (p.Thr119=)
c.291-22C= (n.291-22C=)
c.486C= (p.Thr162=)
19g.29702814G>TCA506986927C19orf12c.324C>A (p.Thr108=)
n.715C>A
c.132C>A (p.Thr44=)
c.357C>A (p.Thr119=)
c.291-22C>A (n.291-22C>A)
c.486C>A (p.Thr162=)
 dbSNP gnomAD v4
19g.29702815dupCA2580060372C19orf12c.324dup (p.Ala109ArgfsTer?)
n.715dup
c.132dup (p.Ala45ArgfsTer?)
c.357dup (p.Ala120ArgfsTer?)
c.291-22dup (n.291-22dup)
c.486dup (p.Ala163ArgfsTer?)
19g.29702815G>ACA405142728C19orf12c.323C>T (p.Thr108Ile)
n.714C>T
c.131C>T (p.Thr44Ile)
c.356C>T (p.Thr119Ile)
c.291-23C>T (n.291-23C>T)
c.485C>T (p.Thr162Ile)
 gnomAD v4
19g.29702815G>CCA405142731C19orf12c.323C>G (p.Thr108Ser)
n.714C>G
c.131C>G (p.Thr44Ser)
c.356C>G (p.Thr119Ser)
c.291-23C>G (n.291-23C>G)
c.485C>G (p.Thr162Ser)
19g.29702815G>TCA405142733C19orf12c.323C>A (p.Thr108Asn)
n.714C>A
c.131C>A (p.Thr44Asn)
c.356C>A (p.Thr119Asn)
c.291-23C>A (n.291-23C>A)
c.485C>A (p.Thr162Asn)
19g.29702816T>ACA405142736C19orf12c.322A>T (p.Thr108Ser)
n.713A>T
c.130A>T (p.Thr44Ser)
c.355A>T (p.Thr119Ser)
c.291-24A>T (n.291-24A>T)
c.484A>T (p.Thr162Ser)
19g.29702816T>CCA405142738C19orf12c.322A>G (p.Thr108Ala)
n.713A>G
c.130A>G (p.Thr44Ala)
c.355A>G (p.Thr119Ala)
c.291-24A>G (n.291-24A>G)
c.484A>G (p.Thr162Ala)
19g.29702816T>GCA9351883C19orf12c.322A>C (p.Thr108Pro)
n.713A>C
c.130A>C (p.Thr44Pro)
c.355A>C (p.Thr119Pro)
c.291-24A>C (n.291-24A>C)
c.484A>C (p.Thr162Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.29702816T=CA2330913556C19orf12c.322A= (p.Thr108=)
n.713A=
c.130A= (p.Thr44=)
c.355A= (p.Thr119=)
c.291-24A= (n.291-24A=)
c.484A= (p.Thr162=)
19g.29702817C>ACA506986941C19orf12c.321G>T (p.Leu107=)
n.712G>T
c.129G>T (p.Leu43=)
c.354G>T (p.Leu118=)
c.291-25G>T (n.291-25G>T)
c.483G>T (p.Leu161=)
19g.29702817C>GCA506986943C19orf12c.321G>C (p.Leu107=)
n.712G>C
c.129G>C (p.Leu43=)
c.354G>C (p.Leu118=)
c.291-25G>C (n.291-25G>C)
c.483G>C (p.Leu161=)
19g.29702817C>TCA506986946C19orf12c.321G>A (p.Leu107=)
n.712G>A
c.129G>A (p.Leu43=)
c.354G>A (p.Leu118=)
c.291-25G>A (n.291-25G>A)
c.483G>A (p.Leu161=)
19g.29702818A=CA2330913557C19orf12c.320T= (p.Leu107=)
n.711T=
c.128T= (p.Leu43=)
c.353T= (p.Leu118=)
c.291-26T= (n.291-26T=)
c.482T= (p.Leu161=)
19g.29702818A>CCA9351884C19orf12c.320T>G (p.Leu107Arg)
n.711T>G
c.128T>G (p.Leu43Arg)
c.353T>G (p.Leu118Arg)
c.291-26T>G (n.291-26T>G)
c.482T>G (p.Leu161Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.29702818A>GCA405142745C19orf12c.320T>C (p.Leu107Pro)
n.711T>C
c.128T>C (p.Leu43Pro)
c.353T>C (p.Leu118Pro)
c.291-26T>C (n.291-26T>C)
c.482T>C (p.Leu161Pro)
 gnomAD v4
19g.29702818A>TCA405142743C19orf12c.320T>A (p.Leu107Gln)
n.711T>A
c.128T>A (p.Leu43Gln)
c.353T>A (p.Leu118Gln)
c.291-26T>A (n.291-26T>A)
c.482T>A (p.Leu161Gln)
19g.29702819G>ACA506986973C19orf12c.319C>T (p.Leu107=)
n.710C>T
c.127C>T (p.Leu43=)
c.352C>T (p.Leu118=)
c.319C>T
c.291-27C>T (n.291-27C>T)
c.481C>T (p.Leu161=)
19g.29702819G>CCA405142749C19orf12c.319C>G (p.Leu107Val)
n.710C>G
c.127C>G (p.Leu43Val)
c.352C>G (p.Leu118Val)
c.319C>G
c.291-27C>G (n.291-27C>G)
c.481C>G (p.Leu161Val)
19g.29702819G=CA2330913558C19orf12c.319C= (p.Leu107=)
n.710C=
c.127C= (p.Leu43=)
c.352C= (p.Leu118=)
c.319C=
c.291-27C= (n.291-27C=)
c.481C= (p.Leu161=)
19g.29702819G>TCA405142751C19orf12c.319C>A (p.Leu107Met)
n.710C>A
c.127C>A (p.Leu43Met)
c.352C>A (p.Leu118Met)
c.319C>A
c.291-27C>A (n.291-27C>A)
c.481C>A (p.Leu161Met)
 dbSNP gnomAD v2 gnomAD v4
19g.29702820C>ACA405142754C19orf12c.318G>T (p.Gln106His)
n.709G>T
c.126G>T (p.Gln42His)
c.351G>T (p.Gln117His)
c.291-28G>T (n.291-28G>T)
c.480G>T (p.Gln160His)
19g.29702820C>GCA405142756C19orf12c.318G>C (p.Gln106His)
n.709G>C
c.126G>C (p.Gln42His)
c.351G>C (p.Gln117His)
c.291-28G>C (n.291-28G>C)
c.480G>C (p.Gln160His)
19g.29702820C>TCA506986983C19orf12c.318G>A (p.Gln106=)
n.709G>A
c.126G>A (p.Gln42=)
c.351G>A (p.Gln117=)
c.291-28G>A (n.291-28G>A)
c.480G>A (p.Gln160=)
 gnomAD v4
19g.29702821T>ACA405142759C19orf12c.317A>T (p.Gln106Leu)
n.708A>T
c.125A>T (p.Gln42Leu)
c.350A>T (p.Gln117Leu)
c.290+27A>T (n.290+27A>T)
c.479A>T (p.Gln160Leu)
19g.29702821T>CCA405142760C19orf12c.317A>G (p.Gln106Arg)
n.708A>G
c.125A>G (p.Gln42Arg)
c.350A>G (p.Gln117Arg)
c.290+27A>G (n.290+27A>G)
c.479A>G (p.Gln160Arg)
 dbSNP
19g.29702821T>GCA405142763C19orf12c.317A>C (p.Gln106Pro)
n.708A>C
c.125A>C (p.Gln42Pro)
c.350A>C (p.Gln117Pro)
c.290+27A>C (n.290+27A>C)
c.479A>C (p.Gln160Pro)
19g.29702821T=CA2330913559C19orf12c.317A= (p.Gln106=)
n.708A=
c.125A= (p.Gln42=)
c.350A= (p.Gln117=)
c.290+27A= (n.290+27A=)
c.479A= (p.Gln160=)
19g.29702822G>ACA405142766C19orf12c.316C>T (p.Gln106Ter)
n.707C>T
c.124C>T (p.Gln42Ter)
c.349C>T (p.Gln117Ter)
c.290+26C>T (n.290+26C>T)
c.478C>T (p.Gln160Ter)
19g.29702822G>CCA405142768C19orf12c.316C>G (p.Gln106Glu)
n.707C>G
c.124C>G (p.Gln42Glu)
c.349C>G (p.Gln117Glu)
c.290+26C>G (n.290+26C>G)
c.478C>G (p.Gln160Glu)
19g.29702822G>TCA405142770C19orf12c.316C>A (p.Gln106Lys)
n.707C>A
c.124C>A (p.Gln42Lys)
c.349C>A (p.Gln117Lys)
c.290+26C>A (n.290+26C>A)
c.478C>A (p.Gln160Lys)
19g.29702823C>ACA506986995C19orf12c.315G>T (p.Val105=)
n.706G>T
c.123G>T (p.Val41=)
c.348G>T (p.Val116=)
c.290+25G>T (n.290+25G>T)
c.477G>T (p.Val159=)
19g.29702823C>GCA506986997C19orf12c.315G>C (p.Val105=)
n.706G>C
c.123G>C (p.Val41=)
c.348G>C (p.Val116=)
c.290+25G>C (n.290+25G>C)
c.477G>C (p.Val159=)
19g.29702823C>TCA506986999C19orf12c.315G>A (p.Val105=)
n.706G>A
c.123G>A (p.Val41=)
c.348G>A (p.Val116=)
c.290+25G>A (n.290+25G>A)
c.477G>A (p.Val159=)
19g.29702824A>CCA405142773C19orf12c.314T>G (p.Val105Gly)
n.705T>G
c.122T>G (p.Val41Gly)
c.347T>G (p.Val116Gly)
c.290+24T>G (n.290+24T>G)
c.476T>G (p.Val159Gly)
19g.29702824A>GCA405142774C19orf12c.314T>C (p.Val105Ala)
n.705T>C
c.122T>C (p.Val41Ala)
c.347T>C (p.Val116Ala)
c.290+24T>C (n.290+24T>C)
c.476T>C (p.Val159Ala)
19g.29702824A>TCA405142776C19orf12c.314T>A (p.Val105Glu)
n.705T>A
c.122T>A (p.Val41Glu)
c.347T>A (p.Val116Glu)
c.290+24T>A (n.290+24T>A)
c.476T>A (p.Val159Glu)
19g.29702825C>ACA9351886C19orf12c.313G>T (p.Val105Leu)
n.704G>T
c.121G>T (p.Val41Leu)
c.346G>T (p.Val116Leu)
c.290+23G>T (n.290+23G>T)
c.475G>T (p.Val159Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702825C=CA2330913560C19orf12c.313G= (p.Val105=)
n.704G=
c.121G= (p.Val41=)
c.346G= (p.Val116=)
c.290+23G= (n.290+23G=)
c.475G= (p.Val159=)
19g.29702825C>GCA405142780C19orf12c.313G>C (p.Val105Leu)
n.704G>C
c.121G>C (p.Val41Leu)
c.346G>C (p.Val116Leu)
c.290+23G>C (n.290+23G>C)
c.475G>C (p.Val159Leu)
19g.29702825C>TCA9351885C19orf12c.313G>A (p.Val105Met)
n.704G>A
c.121G>A (p.Val41Met)
c.346G>A (p.Val116Met)
c.290+23G>A (n.290+23G>A)
c.475G>A (p.Val159Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702826G>ACA9351887C19orf12c.312C>T (p.Ala104=)
n.703C>T
c.120C>T (p.Ala40=)
c.345C>T (p.Ala115=)
c.290+22C>T (n.290+22C>T)
c.474C>T (p.Ala158=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702826G>CCA506987018C19orf12c.312C>G (p.Ala104=)
n.703C>G
c.120C>G (p.Ala40=)
c.345C>G (p.Ala115=)
c.290+22C>G (n.290+22C>G)
c.474C>G (p.Ala158=)
19g.29702826G=CA2330913561C19orf12c.312C= (p.Ala104=)
n.703C=
c.120C= (p.Ala40=)
c.345C= (p.Ala115=)
c.290+22C= (n.290+22C=)
c.474C= (p.Ala158=)
19g.29702826G>TCA506987015C19orf12c.312C>A (p.Ala104=)
n.703C>A
c.120C>A (p.Ala40=)
c.345C>A (p.Ala115=)
c.290+22C>A (n.290+22C>A)
c.474C>A (p.Ala158=)
19g.29702827G>ACA405142785C19orf12c.311C>T (p.Ala104Val)
n.702C>T
c.119C>T (p.Ala40Val)
c.344C>T (p.Ala115Val)
c.290+21C>T (n.290+21C>T)
c.473C>T (p.Ala158Val)
19g.29702827G>CCA405142786C19orf12c.311C>G (p.Ala104Gly)
n.702C>G
c.119C>G (p.Ala40Gly)
c.344C>G (p.Ala115Gly)
c.290+21C>G (n.290+21C>G)
c.473C>G (p.Ala158Gly)
19g.29702827G>TCA405142788C19orf12c.311C>A (p.Ala104Asp)
n.702C>A
c.119C>A (p.Ala40Asp)
c.344C>A (p.Ala115Asp)
c.290+21C>A (n.290+21C>A)
c.473C>A (p.Ala158Asp)
19g.29702828C>ACA405142791C19orf12c.310G>T (p.Ala104Ser)
n.701G>T
c.118G>T (p.Ala40Ser)
c.343G>T (p.Ala115Ser)
c.290+20G>T (n.290+20G>T)
c.472G>T (p.Ala158Ser)
19g.29702828C=CA2330913562C19orf12c.310G= (p.Ala104=)
n.701G=
c.118G= (p.Ala40=)
c.343G= (p.Ala115=)
c.290+20G= (n.290+20G=)
c.472G= (p.Ala158=)
19g.29702828C>GCA405142793C19orf12c.310G>C (p.Ala104Pro)
n.701G>C
c.118G>C (p.Ala40Pro)
c.343G>C (p.Ala115Pro)
c.290+20G>C (n.290+20G>C)
c.472G>C (p.Ala158Pro)
19g.29702828C>TCA405142795C19orf12c.310G>A (p.Ala104Thr)
n.701G>A
c.118G>A (p.Ala40Thr)
c.343G>A (p.Ala115Thr)
c.290+20G>A (n.290+20G>A)
c.472G>A (p.Ala158Thr)
 dbSNP gnomAD v3 gnomAD v4
19g.29702829G>ACA9351888C19orf12c.309C>T (p.Asp103=)
n.700C>T
c.117C>T (p.Asp39=)
c.342C>T (p.Asp114=)
c.290+19C>T (n.290+19C>T)
c.471C>T (p.Asp157=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.29702829G>CCA405142799C19orf12c.309C>G (p.Asp103Glu)
n.700C>G
c.117C>G (p.Asp39Glu)
c.342C>G (p.Asp114Glu)
c.290+19C>G (n.290+19C>G)
c.471C>G (p.Asp157Glu)
19g.29702829G=CA2330913563C19orf12c.309C= (p.Asp103=)
n.700C=
c.117C= (p.Asp39=)
c.342C= (p.Asp114=)
c.290+19C= (n.290+19C=)
c.471C= (p.Asp157=)
19g.29702829G>TCA405142801C19orf12c.309C>A (p.Asp103Glu)
n.700C>A
c.117C>A (p.Asp39Glu)
c.342C>A (p.Asp114Glu)
c.290+19C>A (n.290+19C>A)
c.471C>A (p.Asp157Glu)

Number of alleles fetched