Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.124402875_124402946delinsGGGTATATTTTACAAGAGTAGGAAATGGAAAGAGGGGGAACATGAAACTTACAGGGTATAAGCCCCCAGAAACA1942337879OATc.881_900+52delinsTTTCTGGGGGCTTATACCCTGTAAGTTTCATGTTCCCCCTCTTTCCATTTCCTACTCTTGTAAAATATACCC
n.682_701+52delinsTTTCTGGGGGCTTATACCCTGTAAGTTTCATGTTCCCCCTCTTTCCATTTCCTACTCTTGTAAAATATACCC
n.391_410+52delinsTTTCTGGGGGCTTATACCCTGTAAGTTTCATGTTCCCCCTCTTTCCATTTCCTACTCTTGTAAAATATACCC
c.467_486+52delinsTTTCTGGGGGCTTATACCCTGTAAGTTTCATGTTCCCCCTCTTTCCATTTCCTACTCTTGTAAAATATACCC
c.560_579+52delinsTTTCTGGGGGCTTATACCCTGTAAGTTTCATGTTCCCCCTCTTTCCATTTCCTACTCTTGTAAAATATACCC
c.281_300+52delinsTTTCTGGGGGCTTATACCCTGTAAGTTTCATGTTCCCCCTCTTTCCATTTCCTACTCTTGTAAAATATACCC
10g.124402878_124402948delCA933468331OATc.881_900+51del
n.682_701+51del
n.391_410+51del
c.467_486+51del
c.560_579+51del
c.281_300+51del
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.124402932A>CCA378635072OATc.895T>G (p.Tyr299Asp)
n.696T>G
n.405T>G
c.481T>G (p.Tyr161Asp)
c.574T>G (p.Tyr192Asp)
c.295T>G (p.Tyr99Asp)
10g.124402932A>GCA378635067OATc.895T>C (p.Tyr299His)
n.696T>C
n.405T>C
c.481T>C (p.Tyr161His)
c.574T>C (p.Tyr192His)
c.295T>C (p.Tyr99His)
10g.124402932A>TCA378635070OATc.895T>A (p.Tyr299Asn)
n.696T>A
n.405T>A
c.481T>A (p.Tyr161Asn)
c.574T>A (p.Tyr192Asn)
c.295T>A (p.Tyr99Asn)
10g.124402933T>ACA378635076OATc.894A>T (p.Leu298Phe)
n.695A>T
n.404A>T
c.480A>T (p.Leu160Phe)
c.573A>T (p.Leu191Phe)
c.294A>T (p.Leu98Phe)
 COSMIC
10g.124402933T>CCA471762771OATc.894A>G (p.Leu298=)
n.695A>G
n.404A>G
c.480A>G (p.Leu160=)
c.573A>G (p.Leu191=)
c.294A>G (p.Leu98=)
10g.124402933T>GCA378635084OATc.894A>C (p.Leu298Phe)
n.695A>C
n.404A>C
c.480A>C (p.Leu160Phe)
c.573A>C (p.Leu191Phe)
c.294A>C (p.Leu98Phe)
 dbSNP gnomAD v3 gnomAD v4
10g.124402933T=CA1942337906OATc.894A= (p.Leu298=)
n.695A=
n.404A=
c.480A= (p.Leu160=)
c.573A= (p.Leu191=)
c.294A= (p.Leu98=)
10g.124402934A>CCA378635086OATc.893T>G (p.Leu298Ter)
n.694T>G
n.403T>G
c.479T>G (p.Leu160Ter)
c.572T>G (p.Leu191Ter)
c.293T>G (p.Leu98Ter)
10g.124402934A>GCA378635089OATc.893T>C (p.Leu298Ser)
n.694T>C
n.403T>C
c.479T>C (p.Leu160Ser)
c.572T>C (p.Leu191Ser)
c.293T>C (p.Leu98Ser)
10g.124402934A>TCA378635091OATc.893T>A (p.Leu298Ter)
n.694T>A
n.403T>A
c.479T>A (p.Leu160Ter)
c.572T>A (p.Leu191Ter)
c.293T>A (p.Leu98Ter)
10g.124402935A>CCA378635093OATc.892T>G (p.Leu298Val)
n.693T>G
n.402T>G
c.478T>G (p.Leu160Val)
c.571T>G (p.Leu191Val)
c.292T>G (p.Leu98Val)
 gnomAD v4
10g.124402935A>GCA471762772OATc.892T>C (p.Leu298=)
n.693T>C
n.402T>C
c.478T>C (p.Leu160=)
c.571T>C (p.Leu191=)
c.292T>C (p.Leu98=)
10g.124402935A>TCA378635096OATc.892T>A (p.Leu298Ile)
n.693T>A
n.402T>A
c.478T>A (p.Leu160Ile)
c.571T>A (p.Leu191Ile)
c.292T>A (p.Leu98Ile)
10g.124402936G>ACA471762773OATc.891C>T (p.Gly297=)
n.692C>T
n.401C>T
c.477C>T (p.Gly159=)
c.570C>T (p.Gly190=)
c.291C>T (p.Gly97=)
10g.124402936G>CCA471762774OATc.891C>G (p.Gly297=)
n.692C>G
n.401C>G
c.477C>G (p.Gly159=)
c.570C>G (p.Gly190=)
c.291C>G (p.Gly97=)
10g.124402936G>TCA471762775OATc.891C>A (p.Gly297=)
n.692C>A
n.401C>A
c.477C>A (p.Gly159=)
c.570C>A (p.Gly190=)
c.291C>A (p.Gly97=)
10g.124402937C>ACA378635098OATc.890G>T (p.Gly297Val)
n.691G>T
n.400G>T
c.476G>T (p.Gly159Val)
c.569G>T (p.Gly190Val)
c.290G>T (p.Gly97Val)
10g.124402937C>GCA378635101OATc.890G>C (p.Gly297Ala)
n.691G>C
n.400G>C
c.476G>C (p.Gly159Ala)
c.569G>C (p.Gly190Ala)
c.290G>C (p.Gly97Ala)
10g.124402937C>TCA378635104OATc.890G>A (p.Gly297Asp)
n.691G>A
n.400G>A
c.476G>A (p.Gly159Asp)
c.569G>A (p.Gly190Asp)
c.290G>A (p.Gly97Asp)
10g.124402938C>ACA378635106OATc.889G>T (p.Gly297Cys)
n.690G>T
n.399G>T
c.475G>T (p.Gly159Cys)
c.568G>T (p.Gly190Cys)
c.289G>T (p.Gly97Cys)
 ClinVar
10g.124402938C>GCA378635108OATc.889G>C (p.Gly297Arg)
n.690G>C
n.399G>C
c.475G>C (p.Gly159Arg)
c.568G>C (p.Gly190Arg)
c.289G>C (p.Gly97Arg)
10g.124402938C>TCA378635111OATc.889G>A (p.Gly297Ser)
n.690G>A
n.399G>A
c.475G>A (p.Gly159Ser)
c.568G>A (p.Gly190Ser)
c.289G>A (p.Gly97Ser)
10g.124402939C>ACA471762776OATc.888G>T (p.Gly296=)
n.689G>T
n.398G>T
c.474G>T (p.Gly158=)
c.567G>T (p.Gly189=)
c.288G>T (p.Gly96=)
 gnomAD v4
10g.124402939C>GCA471762777OATc.888G>C (p.Gly296=)
n.689G>C
n.398G>C
c.474G>C (p.Gly158=)
c.567G>C (p.Gly189=)
c.288G>C (p.Gly96=)
10g.124402939C>TCA471762778OATc.888G>A (p.Gly296=)
n.689G>A
n.398G>A
c.474G>A (p.Gly158=)
c.567G>A (p.Gly189=)
c.288G>A (p.Gly96=)
10g.124402940C>ACA378635113OATc.887G>T (p.Gly296Val)
n.688G>T
n.397G>T
c.473G>T (p.Gly158Val)
c.566G>T (p.Gly189Val)
c.287G>T (p.Gly96Val)
10g.124402940C>GCA378635118OATc.887G>C (p.Gly296Ala)
n.688G>C
n.397G>C
c.473G>C (p.Gly158Ala)
c.566G>C (p.Gly189Ala)
c.287G>C (p.Gly96Ala)
 gnomAD v4
10g.124402940C>TCA378635115OATc.887G>A (p.Gly296Glu)
n.688G>A
n.397G>A
c.473G>A (p.Gly158Glu)
c.566G>A (p.Gly189Glu)
c.287G>A (p.Gly96Glu)
10g.124402941C>ACA378635120OATc.886G>T (p.Gly296Trp)
n.687G>T
n.396G>T
c.472G>T (p.Gly158Trp)
c.565G>T (p.Gly189Trp)
c.286G>T (p.Gly96Trp)
10g.124402941C=CA1942337907OATc.886G= (p.Gly296=)
n.687G=
n.396G=
c.472G= (p.Gly158=)
c.565G= (p.Gly189=)
c.286G= (p.Gly96=)
10g.124402941C>GCA378635121OATc.886G>C (p.Gly296Arg)
n.687G>C
n.396G>C
c.472G>C (p.Gly158Arg)
c.565G>C (p.Gly189Arg)
c.286G>C (p.Gly96Arg)
10g.124402941C>TCA378635122OATc.886G>A (p.Gly296Arg)
n.687G>A
n.396G>A
c.472G>A (p.Gly158Arg)
c.565G>A (p.Gly189Arg)
c.286G>A (p.Gly96Arg)
 ClinVar dbSNP
10g.124402942A>CCA471762780OATc.885T>G (p.Ser295=)
n.686T>G
n.395T>G
c.471T>G (p.Ser157=)
c.564T>G (p.Ser188=)
c.285T>G (p.Ser95=)
10g.124402942A>GCA471762781OATc.885T>C (p.Ser295=)
n.686T>C
n.395T>C
c.471T>C (p.Ser157=)
c.564T>C (p.Ser188=)
c.285T>C (p.Ser95=)
10g.124402942A>TCA471762779OATc.885T>A (p.Ser295=)
n.686T>A
n.395T>A
c.471T>A (p.Ser157=)
c.564T>A (p.Ser188=)
c.285T>A (p.Ser95=)
10g.124402943G>ACA378635125OATc.884C>T (p.Ser295Phe)
n.685C>T
n.394C>T
c.470C>T (p.Ser157Phe)
c.563C>T (p.Ser188Phe)
c.284C>T (p.Ser95Phe)
10g.124402943G>CCA378635127OATc.884C>G (p.Ser295Cys)
n.685C>G
n.394C>G
c.470C>G (p.Ser157Cys)
c.563C>G (p.Ser188Cys)
c.284C>G (p.Ser95Cys)
10g.124402943G=CA1942337908OATc.884C= (p.Ser295=)
n.685C=
n.394C=
c.470C= (p.Ser157=)
c.563C= (p.Ser188=)
c.284C= (p.Ser95=)
10g.124402943G>TCA378635129OATc.884C>A (p.Ser295Tyr)
n.685C>A
n.394C>A
c.470C>A (p.Ser157Tyr)
c.563C>A (p.Ser188Tyr)
c.284C>A (p.Ser95Tyr)
10g.124402944A>CCA378635132OATc.883T>G (p.Ser295Ala)
n.684T>G
n.393T>G
c.469T>G (p.Ser157Ala)
c.562T>G (p.Ser188Ala)
c.283T>G (p.Ser95Ala)
10g.124402944A>GCA378635135OATc.883T>C (p.Ser295Pro)
n.684T>C
n.393T>C
c.469T>C (p.Ser157Pro)
c.562T>C (p.Ser188Pro)
c.283T>C (p.Ser95Pro)
10g.124402944A>TCA378635137OATc.883T>A (p.Ser295Thr)
n.684T>A
n.393T>A
c.469T>A (p.Ser157Thr)
c.562T>A (p.Ser188Thr)
c.283T>A (p.Ser95Thr)
10g.124402946dupCA1942337909OATc.883dup (p.Ser295PhefsTer13)
n.684dup
n.393dup
c.469dup (p.Ser157PhefsTer13)
c.562dup (p.Ser188PhefsTer13)
c.283dup (p.Ser95PhefsTer13)
 dbSNP
10g.124402945A>CCA471762782OATc.882T>G (p.Leu294=)
n.683T>G
n.392T>G
c.468T>G (p.Leu156=)
c.561T>G (p.Leu187=)
c.282T>G (p.Leu94=)
10g.124402945A>GCA471762783OATc.882T>C (p.Leu294=)
n.683T>C
n.392T>C
c.468T>C (p.Leu156=)
c.561T>C (p.Leu187=)
c.282T>C (p.Leu94=)
10g.124402945A>TCA471762784OATc.882T>A (p.Leu294=)
n.683T>A
n.392T>A
c.468T>A (p.Leu156=)
c.561T>A (p.Leu187=)
c.282T>A (p.Leu94=)
10g.124402946A=CA1942337910OATc.881T= (p.Leu294=)
n.682T=
n.391T=
c.467T= (p.Leu156=)
c.560T= (p.Leu187=)
c.281T= (p.Leu94=)
10g.124402946A>CCA378635140OATc.881T>G (p.Leu294Arg)
n.682T>G
n.391T>G
c.467T>G (p.Leu156Arg)
c.560T>G (p.Leu187Arg)
c.281T>G (p.Leu94Arg)
10g.124402946A>GCA378635142OATc.881T>C (p.Leu294Pro)
n.682T>C
n.391T>C
c.467T>C (p.Leu156Pro)
c.560T>C (p.Leu187Pro)
c.281T>C (p.Leu94Pro)
 gnomAD v4
10g.124402946A>TCA5733404OATc.881T>A (p.Leu294His)
n.682T>A
n.391T>A
c.467T>A (p.Leu156His)
c.560T>A (p.Leu187His)
c.281T>A (p.Leu94His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.124402947G>ACA378635152OATc.880C>T (p.Leu294Phe)
n.681C>T
n.390C>T
c.466C>T (p.Leu156Phe)
c.559C>T (p.Leu187Phe)
c.280C>T (p.Leu94Phe)
 gnomAD v4
10g.124402947G>CCA378635147OATc.880C>G (p.Leu294Val)
n.681C>G
n.390C>G
c.466C>G (p.Leu156Val)
c.559C>G (p.Leu187Val)
c.280C>G (p.Leu94Val)
 gnomAD v4
10g.124402947G>TCA378635150OATc.880C>A (p.Leu294Ile)
n.681C>A
n.390C>A
c.466C>A (p.Leu156Ile)
c.559C>A (p.Leu187Ile)
c.280C>A (p.Leu94Ile)
10g.124402948G>ACA471762785OATc.879C>T (p.Ala293=)
n.680C>T
n.389C>T
c.465C>T (p.Ala155=)
c.558C>T (p.Ala186=)
c.279C>T (p.Ala93=)
 ClinVar dbSNP
10g.124402948G>CCA471762786OATc.879C>G (p.Ala293=)
n.680C>G
n.389C>G
c.465C>G (p.Ala155=)
c.558C>G (p.Ala186=)
c.279C>G (p.Ala93=)
10g.124402948G=CA1942337911OATc.879C= (p.Ala293=)
n.680C=
n.389C=
c.465C= (p.Ala155=)
c.558C= (p.Ala186=)
c.279C= (p.Ala93=)
10g.124402948G>TCA471762787OATc.879C>A (p.Ala293=)
n.680C>A
n.389C>A
c.465C>A (p.Ala155=)
c.558C>A (p.Ala186=)
c.279C>A (p.Ala93=)
 gnomAD v4
10g.124402949G>ACA378635155OATc.878C>T (p.Ala293Val)
n.679C>T
n.388C>T
c.464C>T (p.Ala155Val)
c.557C>T (p.Ala186Val)
c.278C>T (p.Ala93Val)
10g.124402949G>CCA378635157OATc.878C>G (p.Ala293Gly)
n.679C>G
n.388C>G
c.464C>G (p.Ala155Gly)
c.557C>G (p.Ala186Gly)
c.278C>G (p.Ala93Gly)
10g.124402949G>TCA378635160OATc.878C>A (p.Ala293Asp)
n.679C>A
n.388C>A
c.464C>A (p.Ala155Asp)
c.557C>A (p.Ala186Asp)
c.278C>A (p.Ala93Asp)
10g.124402950C>ACA378635163OATc.877G>T (p.Ala293Ser)
n.678G>T
n.387G>T
c.463G>T (p.Ala155Ser)
c.556G>T (p.Ala186Ser)
c.277G>T (p.Ala93Ser)
10g.124402950C>GCA378635164OATc.877G>C (p.Ala293Pro)
n.678G>C
n.387G>C
c.463G>C (p.Ala155Pro)
c.556G>C (p.Ala186Pro)
c.277G>C (p.Ala93Pro)
10g.124402950C>TCA378635167OATc.877G>A (p.Ala293Thr)
n.678G>A
n.387G>A
c.463G>A (p.Ala155Thr)
c.556G>A (p.Ala186Thr)
c.277G>A (p.Ala93Thr)
10g.124402951C>ACA378635170OATc.876G>T (p.Lys292Asn)
n.677G>T
n.386G>T
c.462G>T (p.Lys154Asn)
c.555G>T (p.Lys185Asn)
c.276G>T (p.Lys92Asn)
10g.124402951C=CA1942337912OATc.876G= (p.Lys292=)
n.677G=
n.386G=
c.462G= (p.Lys154=)
c.555G= (p.Lys185=)
c.276G= (p.Lys92=)
10g.124402951C>GCA378635172OATc.876G>C (p.Lys292Asn)
n.677G>C
n.386G>C
c.462G>C (p.Lys154Asn)
c.555G>C (p.Lys185Asn)
c.276G>C (p.Lys92Asn)
10g.124402951C>TCA5733405OATc.876G>A (p.Lys292=)
n.677G>A
n.386G>A
c.462G>A (p.Lys154=)
c.555G>A (p.Lys185=)
c.276G>A (p.Lys92=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.124402952T>ACA378635175OATc.875A>T (p.Lys292Met)
n.676A>T
n.385A>T
c.461A>T (p.Lys154Met)
c.554A>T (p.Lys185Met)
c.275A>T (p.Lys92Met)
10g.124402952T>CCA16043446OATc.875A>G (p.Lys292Arg)
n.676A>G
n.385A>G
c.461A>G (p.Lys154Arg)
c.554A>G (p.Lys185Arg)
c.275A>G (p.Lys92Arg)
 ClinVar dbSNP
10g.124402952T>GCA378635179OATc.875A>C (p.Lys292Thr)
n.676A>C
n.385A>C
c.461A>C (p.Lys154Thr)
c.554A>C (p.Lys185Thr)
c.275A>C (p.Lys92Thr)
10g.124402952T=CA1942337913OATc.875A= (p.Lys292=)
n.676A=
n.385A=
c.461A= (p.Lys154=)
c.554A= (p.Lys185=)
c.275A= (p.Lys92=)
10g.124402953T>ACA378635187OATc.874A>T (p.Lys292Ter)
n.675A>T
n.384A>T
c.460A>T (p.Lys154Ter)
c.553A>T (p.Lys185Ter)
c.274A>T (p.Lys92Ter)
10g.124402953T>CCA378635185OATc.874A>G (p.Lys292Glu)
n.675A>G
n.384A>G
c.460A>G (p.Lys154Glu)
c.553A>G (p.Lys185Glu)
c.274A>G (p.Lys92Glu)
10g.124402953T>GCA378635182OATc.874A>C (p.Lys292Gln)
n.675A>C
n.384A>C
c.460A>C (p.Lys154Gln)
c.553A>C (p.Lys185Gln)
c.274A>C (p.Lys92Gln)
 COSMIC
10g.124402954T>ACA471762788OATc.873A>T (p.Gly291=)
n.674A>T
n.383A>T
c.459A>T (p.Gly153=)
c.552A>T (p.Gly184=)
c.273A>T (p.Gly91=)
10g.124402954T>CCA471762789OATc.873A>G (p.Gly291=)
n.674A>G
n.383A>G
c.459A>G (p.Gly153=)
c.552A>G (p.Gly184=)
c.273A>G (p.Gly91=)
10g.124402954T>GCA471762790OATc.873A>C (p.Gly291=)
n.674A>C
n.383A>C
c.459A>C (p.Gly153=)
c.552A>C (p.Gly184=)
c.273A>C (p.Gly91=)
10g.124402955C>ACA378635193OATc.872G>T (p.Gly291Val)
n.673G>T
n.382G>T
c.458G>T (p.Gly153Val)
c.551G>T (p.Gly184Val)
c.272G>T (p.Gly91Val)
10g.124402955C>GCA378635190OATc.872G>C (p.Gly291Ala)
n.673G>C
n.382G>C
c.458G>C (p.Gly153Ala)
c.551G>C (p.Gly184Ala)
c.272G>C (p.Gly91Ala)
10g.124402955C>TCA378635195OATc.872G>A (p.Gly291Glu)
n.673G>A
n.382G>A
c.458G>A (p.Gly153Glu)
c.551G>A (p.Gly184Glu)
c.272G>A (p.Gly91Glu)
10g.124402956C>ACA378635198OATc.871G>T (p.Gly291Ter)
n.672G>T
n.381G>T
c.457G>T (p.Gly153Ter)
c.550G>T (p.Gly184Ter)
c.271G>T (p.Gly91Ter)
 gnomAD v4
10g.124402956C>GCA378635203OATc.871G>C (p.Gly291Arg)
n.672G>C
n.381G>C
c.457G>C (p.Gly153Arg)
c.550G>C (p.Gly184Arg)
c.271G>C (p.Gly91Arg)
10g.124402956C>TCA378635200OATc.871G>A (p.Gly291Arg)
n.672G>A
n.381G>A
c.457G>A (p.Gly153Arg)
c.550G>A (p.Gly184Arg)
c.271G>A (p.Gly91Arg)
 COSMIC
10g.124402956_124402959delinsCAAGCA1942337914OATc.868_871delinsCTTG (p.Leu290=)
n.669_672delinsCTTG
n.378_381delinsCTTG
c.454_457delinsCTTG (p.Leu152=)
c.547_550delinsCTTG (p.Leu183=)
c.268_271delinsCTTG (p.Leu90=)
10g.124402957A=CA1942337915OATc.870T= (p.Leu290=)
n.671T=
n.380T=
c.456T= (p.Leu152=)
c.549T= (p.Leu183=)
c.270T= (p.Leu90=)
10g.124402957A>CCA471762791OATc.870T>G (p.Leu290=)
n.671T>G
n.380T>G
c.456T>G (p.Leu152=)
c.549T>G (p.Leu183=)
c.270T>G (p.Leu90=)
10g.124402957A>GCA471762792OATc.870T>C (p.Leu290=)
n.671T>C
n.380T>C
c.456T>C (p.Leu152=)
c.549T>C (p.Leu183=)
c.270T>C (p.Leu90=)
 dbSNP gnomAD v2 gnomAD v4
10g.124402957A>TCA471762793OATc.870T>A (p.Leu290=)
n.671T>A
n.380T>A
c.456T>A (p.Leu152=)
c.549T>A (p.Leu183=)
c.270T>A (p.Leu90=)
10g.124402957_124402959delCA5733406OATc.868_870del (p.Leu290del)
n.669_671del
n.378_380del
c.454_456del (p.Leu152del)
c.547_549del (p.Leu183del)
c.268_270del (p.Leu90del)
 dbSNP ExAC gnomAD v2
10g.124402958A>CCA378635207OATc.869T>G (p.Leu290Arg)
n.670T>G
n.379T>G
c.455T>G (p.Leu152Arg)
c.548T>G (p.Leu183Arg)
c.269T>G (p.Leu90Arg)
10g.124402958A>GCA378635210OATc.869T>C (p.Leu290Pro)
n.670T>C
n.379T>C
c.455T>C (p.Leu152Pro)
c.548T>C (p.Leu183Pro)
c.269T>C (p.Leu90Pro)
10g.124402958A>TCA378635211OATc.869T>A (p.Leu290His)
n.670T>A
n.379T>A
c.455T>A (p.Leu152His)
c.548T>A (p.Leu183His)
c.269T>A (p.Leu90His)
10g.124402959G>ACA378635216OATc.868C>T (p.Leu290Phe)
n.669C>T
n.378C>T
c.454C>T (p.Leu152Phe)
c.547C>T (p.Leu183Phe)
c.268C>T (p.Leu90Phe)
10g.124402959G>CCA378635218OATc.868C>G (p.Leu290Val)
n.669C>G
n.378C>G
c.454C>G (p.Leu152Val)
c.547C>G (p.Leu183Val)
c.268C>G (p.Leu90Val)
10g.124402959G>TCA378635220OATc.868C>A (p.Leu290Ile)
n.669C>A
n.378C>A
c.454C>A (p.Leu152Ile)
c.547C>A (p.Leu183Ile)
c.268C>A (p.Leu90Ile)
10g.124402960G>ACA471762794OATc.867C>T (p.Leu289=)
n.668C>T
n.377C>T
c.453C>T (p.Leu151=)
c.546C>T (p.Leu182=)
c.267C>T (p.Leu89=)
 ClinVar dbSNP gnomAD v4
10g.124402960G>CCA471762795OATc.867C>G (p.Leu289=)
n.668C>G
n.377C>G
c.453C>G (p.Leu151=)
c.546C>G (p.Leu182=)
c.267C>G (p.Leu89=)
10g.124402960G>TCA471762796OATc.867C>A (p.Leu289=)
n.668C>A
n.377C>A
c.453C>A (p.Leu151=)
c.546C>A (p.Leu182=)
c.267C>A (p.Leu89=)
 gnomAD v4
10g.124402961A>CCA378635223OATc.866T>G (p.Leu289Arg)
n.667T>G
n.376T>G
c.452T>G (p.Leu151Arg)
c.545T>G (p.Leu182Arg)
c.266T>G (p.Leu89Arg)
10g.124402961A>GCA378635226OATc.866T>C (p.Leu289Pro)
n.667T>C
n.376T>C
c.452T>C (p.Leu151Pro)
c.545T>C (p.Leu182Pro)
c.266T>C (p.Leu89Pro)
10g.124402961A>TCA378635228OATc.866T>A (p.Leu289His)
n.667T>A
n.376T>A
c.452T>A (p.Leu151His)
c.545T>A (p.Leu182His)
c.266T>A (p.Leu89His)
10g.124402962G>ACA215247483OATc.865C>T (p.Leu289Phe)
n.666C>T
n.375C>T
c.451C>T (p.Leu151Phe)
c.544C>T (p.Leu182Phe)
c.265C>T (p.Leu89Phe)
 ClinVar dbSNP
10g.124402962G>CCA378635232OATc.865C>G (p.Leu289Val)
n.666C>G
n.375C>G
c.451C>G (p.Leu151Val)
c.544C>G (p.Leu182Val)
c.265C>G (p.Leu89Val)
10g.124402962G=CA1942337916OATc.865C= (p.Leu289=)
n.666C=
n.375C=
c.451C= (p.Leu151=)
c.544C= (p.Leu182=)
c.265C= (p.Leu89=)
10g.124402962G>TCA378635236OATc.865C>A (p.Leu289Ile)
n.666C>A
n.375C>A
c.451C>A (p.Leu151Ile)
c.544C>A (p.Leu182Ile)
c.265C>A (p.Leu89Ile)
10g.124402963G>ACA471762797OATc.864C>T (p.Val288=)
n.665C>T
n.374C>T
c.450C>T (p.Val150=)
c.543C>T (p.Val181=)
c.264C>T (p.Val88=)
 ClinVar gnomAD v4
10g.124402963G>CCA471762798OATc.864C>G (p.Val288=)
n.665C>G
n.374C>G
c.450C>G (p.Val150=)
c.543C>G (p.Val181=)
c.264C>G (p.Val88=)
 ClinVar dbSNP gnomAD v4
10g.124402963G=CA1942337917OATc.864C= (p.Val288=)
n.665C=
n.374C=
c.450C= (p.Val150=)
c.543C= (p.Val181=)
c.264C= (p.Val88=)
10g.124402963G>TCA471762799OATc.864C>A (p.Val288=)
n.665C>A
n.374C>A
c.450C>A (p.Val150=)
c.543C>A (p.Val181=)
c.264C>A (p.Val88=)
10g.124402964A>CCA378635239OATc.863T>G (p.Val288Gly)
n.664T>G
n.373T>G
c.449T>G (p.Val150Gly)
c.542T>G (p.Val181Gly)
c.263T>G (p.Val88Gly)
10g.124402964A>GCA378635244OATc.863T>C (p.Val288Ala)
n.664T>C
n.373T>C
c.449T>C (p.Val150Ala)
c.542T>C (p.Val181Ala)
c.263T>C (p.Val88Ala)
10g.124402964A>TCA378635241OATc.863T>A (p.Val288Asp)
n.664T>A
n.373T>A
c.449T>A (p.Val150Asp)
c.542T>A (p.Val181Asp)
c.263T>A (p.Val88Asp)
10g.124402965C>ACA378635246OATc.862G>T (p.Val288Phe)
n.663G>T
n.372G>T
c.448G>T (p.Val150Phe)
c.541G>T (p.Val181Phe)
c.262G>T (p.Val88Phe)
10g.124402965C=CA1942337918OATc.862G= (p.Val288=)
n.663G=
n.372G=
c.448G= (p.Val150=)
c.541G= (p.Val181=)
c.262G= (p.Val88=)
10g.124402965C>GCA378635249OATc.862G>C (p.Val288Leu)
n.663G>C
n.372G>C
c.448G>C (p.Val150Leu)
c.541G>C (p.Val181Leu)
c.262G>C (p.Val88Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.124402965C>TCA215247491OATc.862G>A (p.Val288Ile)
n.663G>A
n.372G>A
c.448G>A (p.Val150Ile)
c.541G>A (p.Val181Ile)
c.262G>A (p.Val88Ile)
 dbSNP gnomAD v4
10g.124402966T>ACA471762800OATc.861A>T (p.Ile287=)
n.662A>T
n.371A>T
c.447A>T (p.Ile149=)
c.540A>T (p.Ile180=)
c.261A>T (p.Ile87=)
10g.124402966T>CCA378635252OATc.861A>G (p.Ile287Met)
n.662A>G
n.371A>G
c.447A>G (p.Ile149Met)
c.540A>G (p.Ile180Met)
c.261A>G (p.Ile87Met)
10g.124402966T>GCA471762801OATc.861A>C (p.Ile287=)
n.662A>C
n.371A>C
c.447A>C (p.Ile149=)
c.540A>C (p.Ile180=)
c.261A>C (p.Ile87=)
10g.124402967A=CA1942337919OATc.860T= (p.Ile287=)
n.661T=
n.370T=
c.446T= (p.Ile149=)
c.539T= (p.Ile180=)
c.260T= (p.Ile87=)
10g.124402967A>CCA378635255OATc.860T>G (p.Ile287Arg)
n.661T>G
n.370T>G
c.446T>G (p.Ile149Arg)
c.539T>G (p.Ile180Arg)
c.260T>G (p.Ile87Arg)
10g.124402967A>GCA5733407OATc.860T>C (p.Ile287Thr)
n.661T>C
n.370T>C
c.446T>C (p.Ile149Thr)
c.539T>C (p.Ile180Thr)
c.260T>C (p.Ile87Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.124402967A>TCA378635259OATc.860T>A (p.Ile287Lys)
n.661T>A
n.370T>A
c.446T>A (p.Ile149Lys)
c.539T>A (p.Ile180Lys)
c.260T>A (p.Ile87Lys)
10g.124402968T>ACA378635262OATc.859A>T (p.Ile287Leu)
n.660A>T
n.369A>T
c.445A>T (p.Ile149Leu)
c.538A>T (p.Ile180Leu)
c.259A>T (p.Ile87Leu)
10g.124402968T>CCA378635265OATc.859A>G (p.Ile287Val)
n.660A>G
n.369A>G
c.445A>G (p.Ile149Val)
c.538A>G (p.Ile180Val)
c.259A>G (p.Ile87Val)
 dbSNP gnomAD v4
10g.124402968T>GCA378635268OATc.859A>C (p.Ile287Leu)
n.660A>C
n.369A>C
c.445A>C (p.Ile149Leu)
c.538A>C (p.Ile180Leu)
c.259A>C (p.Ile87Leu)
10g.124402969A>CCA378635274OATc.858T>G (p.Asp286Glu)
n.659T>G
n.368T>G
c.444T>G (p.Asp148Glu)
c.537T>G (p.Asp179Glu)
c.258T>G (p.Asp86Glu)
10g.124402969A>GCA471762803OATc.858T>C (p.Asp286=)
n.659T>C
n.368T>C
c.444T>C (p.Asp148=)
c.537T>C (p.Asp179=)
c.258T>C (p.Asp86=)
10g.124402969A>TCA378635272OATc.858T>A (p.Asp286Glu)
n.659T>A
n.368T>A
c.444T>A (p.Asp148Glu)
c.537T>A (p.Asp179Glu)
c.258T>A (p.Asp86Glu)
10g.124402970T>ACA378635276OATc.857A>T (p.Asp286Val)
n.658A>T
n.367A>T
c.443A>T (p.Asp148Val)
c.536A>T (p.Asp179Val)
c.257A>T (p.Asp86Val)
10g.124402970T>CCA378635278OATc.857A>G (p.Asp286Gly)
n.658A>G
n.367A>G
c.443A>G (p.Asp148Gly)
c.536A>G (p.Asp179Gly)
c.257A>G (p.Asp86Gly)
10g.124402970T>GCA378635280OATc.857A>C (p.Asp286Ala)
n.658A>C
n.367A>C
c.443A>C (p.Asp148Ala)
c.536A>C (p.Asp179Ala)
c.257A>C (p.Asp86Ala)
10g.124402971C>ACA378635282OATc.856G>T (p.Asp286Tyr)
n.657G>T
n.366G>T
c.442G>T (p.Asp148Tyr)
c.535G>T (p.Asp179Tyr)
c.256G>T (p.Asp86Tyr)
10g.124402971C=CA1942337920OATc.856G= (p.Asp286=)
n.657G=
n.366G=
c.442G= (p.Asp148=)
c.535G= (p.Asp179=)
c.256G= (p.Asp86=)
10g.124402971C>GCA378635285OATc.856G>C (p.Asp286His)
n.657G>C
n.366G>C
c.442G>C (p.Asp148His)
c.535G>C (p.Asp179His)
c.256G>C (p.Asp86His)
10g.124402971C>TCA378635287OATc.856G>A (p.Asp286Asn)
n.657G>A
n.366G>A
c.442G>A (p.Asp148Asn)
c.535G>A (p.Asp179Asn)
c.256G>A (p.Asp86Asn)
 dbSNP
10g.124402972A>CCA471762806OATc.855T>G (p.Pro285=)
n.656T>G
n.365T>G
c.441T>G (p.Pro147=)
c.534T>G (p.Pro178=)
c.255T>G (p.Pro85=)
10g.124402972A>GCA471762805OATc.855T>C (p.Pro285=)
n.656T>C
n.365T>C
c.441T>C (p.Pro147=)
c.534T>C (p.Pro178=)
c.255T>C (p.Pro85=)
10g.124402972A>TCA471762804OATc.855T>A (p.Pro285=)
n.656T>A
n.365T>A
c.441T>A (p.Pro147=)
c.534T>A (p.Pro178=)
c.255T>A (p.Pro85=)
10g.124402973G>ACA378635293OATc.854C>T (p.Pro285Leu)
n.655C>T
n.364C>T
c.440C>T (p.Pro147Leu)
c.533C>T (p.Pro178Leu)
c.254C>T (p.Pro85Leu)
10g.124402973G>CCA378635289OATc.854C>G (p.Pro285Arg)
n.655C>G
n.364C>G
c.440C>G (p.Pro147Arg)
c.533C>G (p.Pro178Arg)
c.254C>G (p.Pro85Arg)
10g.124402973G>TCA378635292OATc.854C>A (p.Pro285His)
n.655C>A
n.364C>A
c.440C>A (p.Pro147His)
c.533C>A (p.Pro178His)
c.254C>A (p.Pro85His)
10g.124402974G>ACA378635294OATc.853C>T (p.Pro285Ser)
n.654C>T
n.363C>T
c.439C>T (p.Pro147Ser)
c.532C>T (p.Pro178Ser)
c.253C>T (p.Pro85Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.124402974G>CCA378635295OATc.853C>G (p.Pro285Ala)
n.654C>G
n.363C>G
c.439C>G (p.Pro147Ala)
c.532C>G (p.Pro178Ala)
c.253C>G (p.Pro85Ala)
10g.124402974G=CA1942337921OATc.853C= (p.Pro285=)
n.654C=
n.363C=
c.439C= (p.Pro147=)
c.532C= (p.Pro178=)
c.253C= (p.Pro85=)
10g.124402974G>TCA378635297OATc.853C>A (p.Pro285Thr)
n.654C>A
n.363C>A
c.439C>A (p.Pro147Thr)
c.532C>A (p.Pro178Thr)
c.253C>A (p.Pro85Thr)
10g.124402975T>ACA378635298OATc.852A>T (p.Arg284Ser)
n.653A>T
n.362A>T
c.438A>T (p.Arg146Ser)
c.531A>T (p.Arg177Ser)
c.252A>T (p.Arg84Ser)
 gnomAD v4 COSMIC
10g.124402975T>CCA471762807OATc.852A>G (p.Arg284=)
n.653A>G
n.362A>G
c.438A>G (p.Arg146=)
c.531A>G (p.Arg177=)
c.252A>G (p.Arg84=)
10g.124402975T>GCA378635299OATc.852A>C (p.Arg284Ser)
n.653A>C
n.362A>C
c.438A>C (p.Arg146Ser)
c.531A>C (p.Arg177Ser)
c.252A>C (p.Arg84Ser)
10g.124402976C>ACA378635300OATc.851G>T (p.Arg284Ile)
n.652G>T
n.361G>T
c.437G>T (p.Arg146Ile)
c.530G>T (p.Arg177Ile)
c.251G>T (p.Arg84Ile)
10g.124402976C>GCA378635302OATc.851G>C (p.Arg284Thr)
n.652G>C
n.361G>C
c.437G>C (p.Arg146Thr)
c.530G>C (p.Arg177Thr)
c.251G>C (p.Arg84Thr)
10g.124402976C>TCA378635301OATc.851G>A (p.Arg284Lys)
n.652G>A
n.361G>A
c.437G>A (p.Arg146Lys)
c.530G>A (p.Arg177Lys)
c.251G>A (p.Arg84Lys)
10g.124402977T>ACA378635303OATc.850A>T (p.Arg284Ter)
n.651A>T
n.360A>T
c.436A>T (p.Arg146Ter)
c.529A>T (p.Arg177Ter)
c.250A>T (p.Arg84Ter)
10g.124402977T>CCA378635305OATc.850A>G (p.Arg284Gly)
n.651A>G
n.360A>G
c.436A>G (p.Arg146Gly)
c.529A>G (p.Arg177Gly)
c.250A>G (p.Arg84Gly)
 gnomAD v4
10g.124402977T>GCA471762808OATc.850A>C (p.Arg284=)
n.651A>C
n.360A>C
c.436A>C (p.Arg146=)
c.529A>C (p.Arg177=)
c.250A>C (p.Arg84=)
10g.124402978G>ACA471762809OATc.849C>T (p.Val283=)
n.650C>T
n.359C>T
c.435C>T (p.Val145=)
c.528C>T (p.Val176=)
c.249C>T (p.Val83=)
10g.124402978G>CCA471762810OATc.849C>G (p.Val283=)
n.650C>G
n.359C>G
c.435C>G (p.Val145=)
c.528C>G (p.Val176=)
c.249C>G (p.Val83=)
10g.124402978G>TCA471762811OATc.849C>A (p.Val283=)
n.650C>A
n.359C>A
c.435C>A (p.Val145=)
c.528C>A (p.Val176=)
c.249C>A (p.Val83=)
10g.124402979A>CCA378635306OATc.848T>G (p.Val283Gly)
n.649T>G
n.358T>G
c.434T>G (p.Val145Gly)
c.527T>G (p.Val176Gly)
c.248T>G (p.Val83Gly)
10g.124402979A>GCA378635308OATc.848T>C (p.Val283Ala)
n.649T>C
n.358T>C
c.434T>C (p.Val145Ala)
c.527T>C (p.Val176Ala)
c.248T>C (p.Val83Ala)
10g.124402979A>TCA378635310OATc.848T>A (p.Val283Asp)
n.649T>A
n.358T>A
c.434T>A (p.Val145Asp)
c.527T>A (p.Val176Asp)
c.248T>A (p.Val83Asp)
 gnomAD v4
10g.124402980C>ACA378635313OATc.847G>T (p.Val283Phe)
n.648G>T
n.357G>T
c.433G>T (p.Val145Phe)
c.526G>T (p.Val176Phe)
c.247G>T (p.Val83Phe)
10g.124402980C>GCA378635315OATc.847G>C (p.Val283Leu)
n.648G>C
n.357G>C
c.433G>C (p.Val145Leu)
c.526G>C (p.Val176Leu)
c.247G>C (p.Val83Leu)
10g.124402980C>TCA378635316OATc.847G>A (p.Val283Ile)
n.648G>A
n.357G>A
c.433G>A (p.Val145Ile)
c.526G>A (p.Val176Ile)
c.247G>A (p.Val83Ile)
10g.124402981A=CA1942337922OATc.846T= (p.Asn282=)
n.647T=
n.356T=
c.432T= (p.Asn144=)
c.525T= (p.Asn175=)
c.246T= (p.Asn82=)
10g.124402981A>CCA378635319OATc.846T>G (p.Asn282Lys)
n.647T>G
n.356T>G
c.432T>G (p.Asn144Lys)
c.525T>G (p.Asn175Lys)
c.246T>G (p.Asn82Lys)
10g.124402981A>GCA5733408OATc.846T>C (p.Asn282=)
n.647T>C
n.356T>C
c.432T>C (p.Asn144=)
c.525T>C (p.Asn175=)
c.246T>C (p.Asn82=)
 dbSNP ExAC gnomAD v2
10g.124402981A>TCA378635322OATc.846T>A (p.Asn282Lys)
n.647T>A
n.356T>A
c.432T>A (p.Asn144Lys)
c.525T>A (p.Asn175Lys)
c.246T>A (p.Asn82Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.124402982T>ACA378635326OATc.845A>T (p.Asn282Ile)
n.646A>T
n.355A>T
c.431A>T (p.Asn144Ile)
c.524A>T (p.Asn175Ile)
c.245A>T (p.Asn82Ile)
10g.124402982T>CCA215247510OATc.845A>G (p.Asn282Ser)
n.646A>G
n.355A>G
c.431A>G (p.Asn144Ser)
c.524A>G (p.Asn175Ser)
c.245A>G (p.Asn82Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.124402982T>GCA378635324OATc.845A>C (p.Asn282Thr)
n.646A>C
n.355A>C
c.431A>C (p.Asn144Thr)
c.524A>C (p.Asn175Thr)
c.245A>C (p.Asn82Thr)
10g.124402982T=CA1942337923OATc.845A= (p.Asn282=)
n.646A=
n.355A=
c.431A= (p.Asn144=)
c.524A= (p.Asn175=)
c.245A= (p.Asn82=)
10g.124402983T>ACA215247521OATc.844A>T (p.Asn282Tyr)
n.645A>T
n.354A>T
c.430A>T (p.Asn144Tyr)
c.523A>T (p.Asn175Tyr)
c.244A>T (p.Asn82Tyr)
 dbSNP gnomAD v3 gnomAD v4
10g.124402983T>CCA5733409OATc.844A>G (p.Asn282Asp)
n.645A>G
n.354A>G
c.430A>G (p.Asn144Asp)
c.523A>G (p.Asn175Asp)
c.244A>G (p.Asn82Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.124402983T>GCA378635331OATc.844A>C (p.Asn282His)
n.645A>C
n.354A>C
c.430A>C (p.Asn144His)
c.523A>C (p.Asn175His)
c.244A>C (p.Asn82His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.124402983T=CA1942337924OATc.844A= (p.Asn282=)
n.645A=
n.354A=
c.430A= (p.Asn144=)
c.523A= (p.Asn175=)
c.244A= (p.Asn82=)
10g.124402984T>ACA378635335OATc.843A>T (p.Glu281Asp)
n.644A>T
n.353A>T
c.429A>T (p.Glu143Asp)
c.522A>T (p.Glu174Asp)
c.243A>T (p.Glu81Asp)
10g.124402984T>CCA471762812OATc.843A>G (p.Glu281=)
n.644A>G
n.353A>G
c.429A>G (p.Glu143=)
c.522A>G (p.Glu174=)
c.243A>G (p.Glu81=)
 ClinVar
10g.124402984T>GCA378635338OATc.843A>C (p.Glu281Asp)
n.644A>C
n.353A>C
c.429A>C (p.Glu143Asp)
c.522A>C (p.Glu174Asp)
c.243A>C (p.Glu81Asp)
 gnomAD v4
10g.124402985T>ACA378635342OATc.842A>T (p.Glu281Val)
n.643A>T
n.352A>T
c.428A>T (p.Glu143Val)
c.521A>T (p.Glu174Val)
c.242A>T (p.Glu81Val)
10g.124402985T>CCA378635343OATc.842A>G (p.Glu281Gly)
n.643A>G
n.352A>G
c.428A>G (p.Glu143Gly)
c.521A>G (p.Glu174Gly)
c.242A>G (p.Glu81Gly)
10g.124402985T>GCA378635345OATc.842A>C (p.Glu281Ala)
n.643A>C
n.352A>C
c.428A>C (p.Glu143Ala)
c.521A>C (p.Glu174Ala)
c.242A>C (p.Glu81Ala)
 gnomAD v4
10g.124402986C>ACA378635349OATc.841G>T (p.Glu281Ter)
n.642G>T
n.351G>T
c.427G>T (p.Glu143Ter)
c.520G>T (p.Glu174Ter)
c.241G>T (p.Glu81Ter)
10g.124402986C>GCA378635351OATc.841G>C (p.Glu281Gln)
n.642G>C
n.351G>C
c.427G>C (p.Glu143Gln)
c.520G>C (p.Glu174Gln)
c.241G>C (p.Glu81Gln)
 gnomAD v4
10g.124402986C>TCA378635356OATc.841G>A (p.Glu281Lys)
n.642G>A
n.351G>A
c.427G>A (p.Glu143Lys)
c.520G>A (p.Glu174Lys)
c.241G>A (p.Glu81Lys)
10g.124402987A=CA1942337925OATc.840T= (p.Tyr280=)
n.641T=
n.350T=
c.426T= (p.Tyr142=)
c.519T= (p.Tyr173=)
c.240T= (p.Tyr80=)
10g.124402987A>CCA378635359OATc.840T>G (p.Tyr280Ter)
n.641T>G
n.350T>G
c.426T>G (p.Tyr142Ter)
c.519T>G (p.Tyr173Ter)
c.240T>G (p.Tyr80Ter)
10g.124402987A>GCA5733410OATc.840T>C (p.Tyr280=)
n.641T>C
n.350T>C
c.426T>C (p.Tyr142=)
c.519T>C (p.Tyr173=)
c.240T>C (p.Tyr80=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.124402987A>TCA378635361OATc.840T>A (p.Tyr280Ter)
n.641T>A
n.350T>A
c.426T>A (p.Tyr142Ter)
c.519T>A (p.Tyr173Ter)
c.240T>A (p.Tyr80Ter)
10g.124402988T>ACA378635366OATc.839A>T (p.Tyr280Phe)
n.640A>T
n.349A>T
c.425A>T (p.Tyr142Phe)
c.518A>T (p.Tyr173Phe)
c.239A>T (p.Tyr80Phe)
10g.124402988T>CCA378635363OATc.839A>G (p.Tyr280Cys)
n.640A>G
n.349A>G
c.425A>G (p.Tyr142Cys)
c.518A>G (p.Tyr173Cys)
c.239A>G (p.Tyr80Cys)
 ClinVar dbSNP gnomAD v4
10g.124402988T>GCA378635364OATc.839A>C (p.Tyr280Ser)
n.640A>C
n.349A>C
c.425A>C (p.Tyr142Ser)
c.518A>C (p.Tyr173Ser)
c.239A>C (p.Tyr80Ser)
10g.124402988T=CA1942337926OATc.839A= (p.Tyr280=)
n.640A=
n.349A=
c.425A= (p.Tyr142=)
c.518A= (p.Tyr173=)
c.239A= (p.Tyr80=)
10g.124402989A=CA1942337927OATc.838T= (p.Tyr280=)
n.639T=
n.348T=
c.424T= (p.Tyr142=)
c.517T= (p.Tyr173=)
c.238T= (p.Tyr80=)
10g.124402989A>CCA378635369OATc.838T>G (p.Tyr280Asp)
n.639T>G
n.348T>G
c.424T>G (p.Tyr142Asp)
c.517T>G (p.Tyr173Asp)
c.238T>G (p.Tyr80Asp)
 dbSNP gnomAD v2 gnomAD v4
10g.124402989A>GCA215247535OATc.838T>C (p.Tyr280His)
n.639T>C
n.348T>C
c.424T>C (p.Tyr142His)
c.517T>C (p.Tyr173His)
c.238T>C (p.Tyr80His)
 dbSNP COSMIC
10g.124402989A>TCA378635372OATc.838T>A (p.Tyr280Asn)
n.639T>A
n.348T>A
c.424T>A (p.Tyr142Asn)
c.517T>A (p.Tyr173Asn)
c.238T>A (p.Tyr80Asn)
 gnomAD v4
10g.124402990_124402996delCA2611307801OATc.832_838del (p.Val278MetfsTer8)
n.633_639del
n.342_348del
c.418_424del (p.Val140MetfsTer8)
c.511_517del (p.Val171MetfsTer8)
c.232_238del (p.Val78MetfsTer8)
 gnomAD v4
10g.124402990A=CA1942337928OATc.837T= (p.Asp279=)
n.638T=
n.347T=
c.423T= (p.Asp141=)
c.516T= (p.Asp172=)
c.237T= (p.Asp79=)
10g.124402990A>CCA378635375OATc.837T>G (p.Asp279Glu)
n.638T>G
n.347T>G
c.423T>G (p.Asp141Glu)
c.516T>G (p.Asp172Glu)
c.237T>G (p.Asp79Glu)
 dbSNP gnomAD v2
10g.124402990A>GCA471762813OATc.837T>C (p.Asp279=)
n.638T>C
n.347T>C
c.423T>C (p.Asp141=)
c.516T>C (p.Asp172=)
c.237T>C (p.Asp79=)
10g.124402990A>TCA378635378OATc.837T>A (p.Asp279Glu)
n.638T>A
n.347T>A
c.423T>A (p.Asp141Glu)
c.516T>A (p.Asp172Glu)
c.237T>A (p.Asp79Glu)
10g.124402991T>ACA378635380OATc.836A>T (p.Asp279Val)
n.637A>T
n.346A>T
c.422A>T (p.Asp141Val)
c.515A>T (p.Asp172Val)
c.236A>T (p.Asp79Val)
10g.124402991T>CCA378635382OATc.836A>G (p.Asp279Gly)
n.637A>G
n.346A>G
c.422A>G (p.Asp141Gly)
c.515A>G (p.Asp172Gly)
c.236A>G (p.Asp79Gly)
10g.124402991T>GCA378635384OATc.836A>C (p.Asp279Ala)
n.637A>C
n.346A>C
c.422A>C (p.Asp141Ala)
c.515A>C (p.Asp172Ala)
c.236A>C (p.Asp79Ala)
10g.124402992C>ACA378635386OATc.835G>T (p.Asp279Tyr)
n.636G>T
n.345G>T
c.421G>T (p.Asp141Tyr)
c.514G>T (p.Asp172Tyr)
c.235G>T (p.Asp79Tyr)
10g.124402992C>GCA378635389OATc.835G>C (p.Asp279His)
n.636G>C
n.345G>C
c.421G>C (p.Asp141His)
c.514G>C (p.Asp172His)
c.235G>C (p.Asp79His)
10g.124402992C>TCA378635391OATc.835G>A (p.Asp279Asn)
n.636G>A
n.345G>A
c.421G>A (p.Asp141Asn)
c.514G>A (p.Asp172Asn)
c.235G>A (p.Asp79Asn)
10g.124402993A=CA1942337929OATc.834T= (p.Val278=)
n.635T=
n.344T=
c.420T= (p.Val140=)
c.513T= (p.Val171=)
c.234T= (p.Val78=)
10g.124402993A>CCA471762816OATc.834T>G (p.Val278=)
n.635T>G
n.344T>G
c.420T>G (p.Val140=)
c.513T>G (p.Val171=)
c.234T>G (p.Val78=)
10g.124402993A>GCA471762815OATc.834T>C (p.Val278=)
n.635T>C
n.344T>C
c.420T>C (p.Val140=)
c.513T>C (p.Val171=)
c.234T>C (p.Val78=)
 ClinVar dbSNP gnomAD v4
10g.124402993A>TCA471762814OATc.834T>A (p.Val278=)
n.635T>A
n.344T>A
c.420T>A (p.Val140=)
c.513T>A (p.Val171=)
c.234T>A (p.Val78=)
10g.124402994A=CA1942337930OATc.833T= (p.Val278=)
n.634T=
n.343T=
c.419T= (p.Val140=)
c.512T= (p.Val171=)
c.233T= (p.Val78=)
10g.124402994A>CCA378635397OATc.833T>G (p.Val278Gly)
n.634T>G
n.343T>G
c.419T>G (p.Val140Gly)
c.512T>G (p.Val171Gly)
c.233T>G (p.Val78Gly)
10g.124402994A>GCA5733411OATc.833T>C (p.Val278Ala)
n.634T>C
n.343T>C
c.419T>C (p.Val140Ala)
c.512T>C (p.Val171Ala)
c.233T>C (p.Val78Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.124402994A>TCA378635394OATc.833T>A (p.Val278Asp)
n.634T>A
n.343T>A
c.419T>A (p.Val140Asp)
c.512T>A (p.Val171Asp)
c.233T>A (p.Val78Asp)
10g.124402995C>ACA378635401OATc.832G>T (p.Val278Phe)
n.633G>T
n.342G>T
c.418G>T (p.Val140Phe)
c.511G>T (p.Val171Phe)
c.232G>T (p.Val78Phe)
10g.124402995C=CA1942337931OATc.832G= (p.Val278=)
n.633G=
n.342G=
c.418G= (p.Val140=)
c.511G= (p.Val171=)
c.232G= (p.Val78=)
10g.124402995C>GCA378635402OATc.832G>C (p.Val278Leu)
n.633G>C
n.342G>C
c.418G>C (p.Val140Leu)
c.511G>C (p.Val171Leu)
c.232G>C (p.Val78Leu)
10g.124402995C>TCA378635404OATc.832G>A (p.Val278Ile)
n.633G>A
n.342G>A
c.418G>A (p.Val140Ile)
c.511G>A (p.Val171Ile)
c.232G>A (p.Val78Ile)
 dbSNP gnomAD v4
10g.124402996A>CCA471762819OATc.831T>G (p.Ala277=)
n.632T>G
n.341T>G
c.417T>G (p.Ala139=)
c.510T>G (p.Ala170=)
c.231T>G (p.Ala77=)
10g.124402996A>GCA471762818OATc.831T>C (p.Ala277=)
n.632T>C
n.341T>C
c.417T>C (p.Ala139=)
c.510T>C (p.Ala170=)
c.231T>C (p.Ala77=)
10g.124402996A>TCA471762817OATc.831T>A (p.Ala277=)
n.632T>A
n.341T>A
c.417T>A (p.Ala139=)
c.510T>A (p.Ala170=)
c.231T>A (p.Ala77=)
10g.124402997G>ACA378635408OATc.830C>T (p.Ala277Val)
n.631C>T
n.340C>T
c.416C>T (p.Ala139Val)
c.509C>T (p.Ala170Val)
c.230C>T (p.Ala77Val)
10g.124402997G>CCA378635411OATc.830C>G (p.Ala277Gly)
n.631C>G
n.340C>G
c.416C>G (p.Ala139Gly)
c.509C>G (p.Ala170Gly)
c.230C>G (p.Ala77Gly)
10g.124402997G>TCA378635415OATc.830C>A (p.Ala277Asp)
n.631C>A
n.340C>A
c.416C>A (p.Ala139Asp)
c.509C>A (p.Ala170Asp)
c.230C>A (p.Ala77Asp)
10g.124402998C>ACA378635428OATc.829G>T (p.Ala277Ser)
n.630G>T
n.339G>T
c.415G>T (p.Ala139Ser)
c.508G>T (p.Ala170Ser)
c.229G>T (p.Ala77Ser)
10g.124402998C=CA1942337932OATc.829G= (p.Ala277=)
n.630G=
n.339G=
c.415G= (p.Ala139=)
c.508G= (p.Ala170=)
c.229G= (p.Ala77=)
10g.124402998C>GCA5733412OATc.829G>C (p.Ala277Pro)
n.630G>C
n.339G>C
c.415G>C (p.Ala139Pro)
c.508G>C (p.Ala170Pro)
c.229G>C (p.Ala77Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.124402998C>TCA378635418OATc.829G>A (p.Ala277Thr)
n.630G>A
n.339G>A
c.415G>A (p.Ala139Thr)
c.508G>A (p.Ala170Thr)
c.229G>A (p.Ala77Thr)
 gnomAD v4
10g.124402999C>ACA471762820OATc.828G>T (p.Leu276=)
n.629G>T
n.338G>T
c.414G>T (p.Leu138=)
c.507G>T (p.Leu169=)
c.228G>T (p.Leu76=)
10g.124402999C>GCA471762822OATc.828G>C (p.Leu276=)
n.629G>C
n.338G>C
c.414G>C (p.Leu138=)
c.507G>C (p.Leu169=)
c.228G>C (p.Leu76=)
10g.124402999C>TCA471762821OATc.828G>A (p.Leu276=)
n.629G>A
n.338G>A
c.414G>A (p.Leu138=)
c.507G>A (p.Leu169=)
c.228G>A (p.Leu76=)
10g.124403000A>CCA378635431OATc.827T>G (p.Leu276Arg)
n.628T>G
n.337T>G
c.413T>G (p.Leu138Arg)
c.506T>G (p.Leu169Arg)
c.227T>G (p.Leu76Arg)
10g.124403000A>GCA378635434OATc.827T>C (p.Leu276Pro)
n.628T>C
n.337T>C
c.413T>C (p.Leu138Pro)
c.506T>C (p.Leu169Pro)
c.227T>C (p.Leu76Pro)
10g.124403000A>TCA378635436OATc.827T>A (p.Leu276Gln)
n.628T>A
n.337T>A
c.413T>A (p.Leu138Gln)
c.506T>A (p.Leu169Gln)
c.227T>A (p.Leu76Gln)
10g.124403001G>ACA471762823OATc.826C>T (p.Leu276=)
n.627C>T
n.336C>T
c.412C>T (p.Leu138=)
c.505C>T (p.Leu169=)
c.226C>T (p.Leu76=)
10g.124403001G>CCA378635438OATc.826C>G (p.Leu276Val)
n.627C>G
n.336C>G
c.412C>G (p.Leu138Val)
c.505C>G (p.Leu169Val)
c.226C>G (p.Leu76Val)
10g.124403001G>TCA378635441OATc.826C>A (p.Leu276Met)
n.627C>A
n.336C>A
c.412C>A (p.Leu138Met)
c.505C>A (p.Leu169Met)
c.226C>A (p.Leu76Met)
10g.124403002C>ACA378635445OATc.825G>T (p.Trp275Cys)
n.626G>T
n.335G>T
c.411G>T (p.Trp137Cys)
c.504G>T (p.Trp168Cys)
c.225G>T (p.Trp75Cys)
10g.124403002C>GCA378635448OATc.825G>C (p.Trp275Cys)
n.626G>C
n.335G>C
c.411G>C (p.Trp137Cys)
c.504G>C (p.Trp168Cys)
c.225G>C (p.Trp75Cys)
10g.124403002C>TCA378635447OATc.825G>A (p.Trp275Ter)
n.626G>A
n.335G>A
c.411G>A (p.Trp137Ter)
c.504G>A (p.Trp168Ter)
c.225G>A (p.Trp75Ter)
10g.124403003C>ACA378635449OATc.824G>T (p.Trp275Leu)
n.625G>T
n.334G>T
c.410G>T (p.Trp137Leu)
c.503G>T (p.Trp168Leu)
c.224G>T (p.Trp75Leu)
10g.124403003C=CA1942337933OATc.824G= (p.Trp275=)
n.625G=
n.334G=
c.410G= (p.Trp137=)
c.503G= (p.Trp168=)
c.224G= (p.Trp75=)
10g.124403003C>GCA378635451OATc.824G>C (p.Trp275Ser)
n.625G>C
n.334G>C
c.410G>C (p.Trp137Ser)
c.503G>C (p.Trp168Ser)
c.224G>C (p.Trp75Ser)
10g.124403003C>TCA114010OATc.824G>A (p.Trp275Ter)
n.625G>A
n.334G>A
c.410G>A (p.Trp137Ter)
c.503G>A (p.Trp168Ter)
c.224G>A (p.Trp75Ter)
 ClinVar dbSNP gnomAD v2
10g.124403004A=CA1942337934OATc.823T= (p.Trp275=)
n.624T=
n.333T=
c.409T= (p.Trp137=)
c.502T= (p.Trp168=)
c.223T= (p.Trp75=)
10g.124403004A>CCA378635455OATc.823T>G (p.Trp275Gly)
n.624T>G
n.333T>G
c.409T>G (p.Trp137Gly)
c.502T>G (p.Trp168Gly)
c.223T>G (p.Trp75Gly)
10g.124403004A>GCA378635459OATc.823T>C (p.Trp275Arg)
n.624T>C
n.333T>C
c.409T>C (p.Trp137Arg)
c.502T>C (p.Trp168Arg)
c.223T>C (p.Trp75Arg)
 gnomAD v4
10g.124403004A>TCA215247561OATc.823T>A (p.Trp275Arg)
n.624T>A
n.333T>A
c.409T>A (p.Trp137Arg)
c.502T>A (p.Trp168Arg)
c.223T>A (p.Trp75Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.124403005T>ACA378635461OATc.822A>T (p.Arg274Ser)
n.623A>T
n.332A>T
c.408A>T (p.Arg136Ser)
c.501A>T (p.Arg167Ser)
c.222A>T (p.Arg74Ser)
10g.124403005T>CCA471762824OATc.822A>G (p.Arg274=)
n.623A>G
n.332A>G
c.408A>G (p.Arg136=)
c.501A>G (p.Arg167=)
c.222A>G (p.Arg74=)
10g.124403005T>GCA378635464OATc.822A>C (p.Arg274Ser)
n.623A>C
n.332A>C
c.408A>C (p.Arg136Ser)
c.501A>C (p.Arg167Ser)
c.222A>C (p.Arg74Ser)
10g.124403006C>ACA378635467OATc.821G>T (p.Arg274Ile)
n.622G>T
n.331G>T
c.407G>T (p.Arg136Ile)
c.500G>T (p.Arg167Ile)
c.221G>T (p.Arg74Ile)
10g.124403006C>GCA378635471OATc.821G>C (p.Arg274Thr)
n.622G>C
n.331G>C
c.407G>C (p.Arg136Thr)
c.500G>C (p.Arg167Thr)
c.221G>C (p.Arg74Thr)
10g.124403006C>TCA378635472OATc.821G>A (p.Arg274Lys)
n.622G>A
n.331G>A
c.407G>A (p.Arg136Lys)
c.500G>A (p.Arg167Lys)
c.221G>A (p.Arg74Lys)
 gnomAD v4
10g.124403007T>ACA378635474OATc.820A>T (p.Arg274Ter)
n.621A>T
n.330A>T
c.406A>T (p.Arg136Ter)
c.499A>T (p.Arg167Ter)
c.220A>T (p.Arg74Ter)
10g.124403007T>CCA378635476OATc.820A>G (p.Arg274Gly)
n.621A>G
n.330A>G
c.406A>G (p.Arg136Gly)
c.499A>G (p.Arg167Gly)
c.220A>G (p.Arg74Gly)
 dbSNP gnomAD v3 gnomAD v4
10g.124403007T>GCA471762825OATc.820A>C (p.Arg274=)
n.621A>C
n.330A>C
c.406A>C (p.Arg136=)
c.499A>C (p.Arg167=)
c.220A>C (p.Arg74=)
10g.124403007T=CA1942337935OATc.820A= (p.Arg274=)
n.621A=
n.330A=
c.406A= (p.Arg136=)
c.499A= (p.Arg167=)
c.220A= (p.Arg74=)
10g.124403008A>CCA471762826OATc.819T>G (p.Gly273=)
n.620T>G
n.329T>G
c.405T>G (p.Gly135=)
c.498T>G (p.Gly166=)
c.219T>G (p.Gly73=)
10g.124403008A>GCA471762827OATc.819T>C (p.Gly273=)
n.620T>C
n.329T>C
c.405T>C (p.Gly135=)
c.498T>C (p.Gly166=)
c.219T>C (p.Gly73=)
10g.124403008A>TCA471762828OATc.819T>A (p.Gly273=)
n.620T>A
n.329T>A
c.405T>A (p.Gly135=)
c.498T>A (p.Gly166=)
c.219T>A (p.Gly73=)
 ClinVar dbSNP
10g.124403009C>ACA378635481OATc.818G>T (p.Gly273Val)
n.619G>T
n.328G>T
c.404G>T (p.Gly135Val)
c.497G>T (p.Gly166Val)
c.218G>T (p.Gly73Val)
10g.124403009C>GCA378635482OATc.818G>C (p.Gly273Ala)
n.619G>C
n.328G>C
c.404G>C (p.Gly135Ala)
c.497G>C (p.Gly166Ala)
c.218G>C (p.Gly73Ala)
 gnomAD v4
10g.124403009C>TCA378635479OATc.818G>A (p.Gly273Asp)
n.619G>A
n.328G>A
c.404G>A (p.Gly135Asp)
c.497G>A (p.Gly166Asp)
c.218G>A (p.Gly73Asp)
 gnomAD v4
10g.124403010C>ACA378635483OATc.817G>T (p.Gly273Cys)
n.618G>T
n.327G>T
c.403G>T (p.Gly135Cys)
c.496G>T (p.Gly166Cys)
c.217G>T (p.Gly73Cys)
10g.124403010C>GCA378635488OATc.817G>C (p.Gly273Arg)
n.618G>C
n.327G>C
c.403G>C (p.Gly135Arg)
c.496G>C (p.Gly166Arg)
c.217G>C (p.Gly73Arg)
10g.124403010C>TCA378635485OATc.817G>A (p.Gly273Ser)
n.618G>A
n.327G>A
c.403G>A (p.Gly135Ser)
c.496G>A (p.Gly166Ser)
c.217G>A (p.Gly73Ser)
10g.124403011A=CA1942337936OATc.816T= (p.Thr272=)
n.617T=
n.326T=
c.402T= (p.Thr134=)
c.495T= (p.Thr165=)
c.216T= (p.Thr72=)
10g.124403011A>CCA471762829OATc.816T>G (p.Thr272=)
n.617T>G
n.326T>G
c.402T>G (p.Thr134=)
c.495T>G (p.Thr165=)
c.216T>G (p.Thr72=)
10g.124403011A>GCA5733413OATc.816T>C (p.Thr272=)
n.617T>C
n.326T>C
c.402T>C (p.Thr134=)
c.495T>C (p.Thr165=)
c.216T>C (p.Thr72=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.124403011A>TCA471762830OATc.816T>A (p.Thr272=)
n.617T>A
n.326T>A
c.402T>A (p.Thr134=)
c.495T>A (p.Thr165=)
c.216T>A (p.Thr72=)
10g.124403012G>ACA378635496OATc.815C>T (p.Thr272Ile)
n.616C>T
n.325C>T
c.401C>T (p.Thr134Ile)
c.494C>T (p.Thr165Ile)
c.215C>T (p.Thr72Ile)
10g.124403012G>CCA378635492OATc.815C>G (p.Thr272Ser)
n.616C>G
n.325C>G
c.401C>G (p.Thr134Ser)
c.494C>G (p.Thr165Ser)
c.215C>G (p.Thr72Ser)
10g.124403012G>TCA378635494OATc.815C>A (p.Thr272Asn)
n.616C>A
n.325C>A
c.401C>A (p.Thr134Asn)
c.494C>A (p.Thr165Asn)
c.215C>A (p.Thr72Asn)
10g.124403013T>ACA378635502OATc.814A>T (p.Thr272Ser)
n.615A>T
n.324A>T
c.400A>T (p.Thr134Ser)
c.493A>T (p.Thr165Ser)
c.214A>T (p.Thr72Ser)
10g.124403013T>CCA378635504OATc.814A>G (p.Thr272Ala)
n.615A>G
n.324A>G
c.400A>G (p.Thr134Ala)
c.493A>G (p.Thr165Ala)
c.214A>G (p.Thr72Ala)
 gnomAD v4
10g.124403013T>GCA378635512OATc.814A>C (p.Thr272Pro)
n.615A>C
n.324A>C
c.400A>C (p.Thr134Pro)
c.493A>C (p.Thr165Pro)
c.214A>C (p.Thr72Pro)
10g.124403014T>ACA378635515OATc.813A>T (p.Arg271Ser)
n.614A>T
n.323A>T
c.399A>T (p.Arg133Ser)
c.492A>T (p.Arg164Ser)
c.213A>T (p.Arg71Ser)
10g.124403014T>CCA471762831OATc.813A>G (p.Arg271=)
n.614A>G
n.323A>G
c.399A>G (p.Arg133=)
c.492A>G (p.Arg164=)
c.213A>G (p.Arg71=)
10g.124403014T>GCA378635518OATc.813A>C (p.Arg271Ser)
n.614A>C
n.323A>C
c.399A>C (p.Arg133Ser)
c.492A>C (p.Arg164Ser)
c.213A>C (p.Arg71Ser)
 gnomAD v4
10g.124403015C>ACA378635525OATc.812G>T (p.Arg271Ile)
n.613G>T
n.322G>T
c.398G>T (p.Arg133Ile)
c.491G>T (p.Arg164Ile)
c.212G>T (p.Arg71Ile)
10g.124403015C=CA1942337937OATc.812G= (p.Arg271=)
n.613G=
n.322G=
c.398G= (p.Arg133=)
c.491G= (p.Arg164=)
c.212G= (p.Arg71=)
10g.124403015C>GCA378635521OATc.812G>C (p.Arg271Thr)
n.613G>C
n.322G>C
c.398G>C (p.Arg133Thr)
c.491G>C (p.Arg164Thr)
c.212G>C (p.Arg71Thr)
 gnomAD v4
10g.124403015C>TCA113937OATc.812G>A (p.Arg271Lys)
n.613G>A
n.322G>A
c.398G>A (p.Arg133Lys)
c.491G>A (p.Arg164Lys)
c.212G>A (p.Arg71Lys)
 ClinVar dbSNP
10g.124403016T>ACA378635528OATc.811A>T (p.Arg271Ter)
n.612A>T
n.321A>T
c.397A>T (p.Arg133Ter)
c.490A>T (p.Arg164Ter)
c.211A>T (p.Arg71Ter)
10g.124403016T>CCA378635529OATc.811A>G (p.Arg271Gly)
n.612A>G
n.321A>G
c.397A>G (p.Arg133Gly)
c.490A>G (p.Arg164Gly)
c.211A>G (p.Arg71Gly)
10g.124403016T>GCA471762832OATc.811A>C (p.Arg271=)
n.612A>C
n.321A>C
c.397A>C (p.Arg133=)
c.490A>C (p.Arg164=)
c.211A>C (p.Arg71=)
10g.124403017G>ACA471762833OATc.810C>T (p.Ala270=)
n.611C>T
n.320C>T
c.396C>T (p.Ala132=)
c.489C>T (p.Ala163=)
c.210C>T (p.Ala70=)
10g.124403017G>CCA471762835OATc.810C>G (p.Ala270=)
n.611C>G
n.320C>G
c.396C>G (p.Ala132=)
c.489C>G (p.Ala163=)
c.210C>G (p.Ala70=)
10g.124403017G>TCA471762834OATc.810C>A (p.Ala270=)
n.611C>A
n.320C>A
c.396C>A (p.Ala132=)
c.489C>A (p.Ala163=)
c.210C>A (p.Ala70=)
10g.124403018G>ACA378635532OATc.809C>T (p.Ala270Val)
n.610C>T
n.319C>T
c.395C>T (p.Ala132Val)
c.488C>T (p.Ala163Val)
c.209C>T (p.Ala70Val)
 ClinVar dbSNP gnomAD v4
10g.124403018G>CCA378635535OATc.809C>G (p.Ala270Gly)
n.610C>G
n.319C>G
c.395C>G (p.Ala132Gly)
c.488C>G (p.Ala163Gly)
c.209C>G (p.Ala70Gly)
10g.124403018G>TCA378635548OATc.809C>A (p.Ala270Asp)
n.610C>A
n.319C>A
c.395C>A (p.Ala132Asp)
c.488C>A (p.Ala163Asp)
c.209C>A (p.Ala70Asp)
10g.124403019C>ACA378635550OATc.808G>T (p.Ala270Ser)
n.609G>T
n.318G>T
c.394G>T (p.Ala132Ser)
c.487G>T (p.Ala163Ser)
c.208G>T (p.Ala70Ser)
10g.124403019C=CA1942337938OATc.808G= (p.Ala270=)
n.609G=
n.318G=
c.394G= (p.Ala132=)
c.487G= (p.Ala163=)
c.208G= (p.Ala70=)
10g.124403019C>GCA113934OATc.808G>C (p.Ala270Pro)
n.609G>C
n.318G>C
c.394G>C (p.Ala132Pro)
c.487G>C (p.Ala163Pro)
c.208G>C (p.Ala70Pro)
 ClinVar dbSNP gnomAD v4
10g.124403019C>TCA378635552OATc.808G>A (p.Ala270Thr)
n.609G>A
n.318G>A
c.394G>A (p.Ala132Thr)
c.487G>A (p.Ala163Thr)
c.208G>A (p.Ala70Thr)
10g.124403020C>ACA378635554OATc.807G>T (p.Leu269Phe)
n.608G>T
n.317G>T
c.393G>T (p.Leu131Phe)
c.486G>T (p.Leu162Phe)
c.207G>T (p.Leu69Phe)
10g.124403020C>GCA378635556OATc.807G>C (p.Leu269Phe)
n.608G>C
n.317G>C
c.393G>C (p.Leu131Phe)
c.486G>C (p.Leu162Phe)
c.207G>C (p.Leu69Phe)
10g.124403020C>TCA471762836OATc.807G>A (p.Leu269=)
n.608G>A
n.317G>A
c.393G>A (p.Leu131=)
c.486G>A (p.Leu162=)
c.207G>A (p.Leu69=)
 ClinVar dbSNP
10g.124403021A>CCA378635558OATc.806T>G (p.Leu269Trp)
n.607T>G
n.316T>G
c.392T>G (p.Leu131Trp)
c.485T>G (p.Leu162Trp)
c.206T>G (p.Leu69Trp)
10g.124403021A>GCA378635560OATc.806T>C (p.Leu269Ser)
n.607T>C
n.316T>C
c.392T>C (p.Leu131Ser)
c.485T>C (p.Leu162Ser)
c.206T>C (p.Leu69Ser)
10g.124403021A>TCA378635561OATc.806T>A (p.Leu269Ter)
n.607T>A
n.316T>A
c.392T>A (p.Leu131Ter)
c.485T>A (p.Leu162Ter)
c.206T>A (p.Leu69Ter)
10g.124403022delCA2789814558OATc.806del (p.Leu269TrpfsTer19)
n.607del
n.316del
c.392del (p.Leu131TrpfsTer19)
c.485del (p.Leu162TrpfsTer19)
c.206del (p.Leu69TrpfsTer19)
10g.124403022A=CA1942337939OATc.805T= (p.Leu269=)
n.606T=
n.315T=
c.391T= (p.Leu131=)
c.484T= (p.Leu162=)
c.205T= (p.Leu69=)
10g.124403022A>CCA378635563OATc.805T>G (p.Leu269Val)
n.606T>G
n.315T>G
c.391T>G (p.Leu131Val)
c.484T>G (p.Leu162Val)
c.205T>G (p.Leu69Val)
10g.124403022A>GCA471762837OATc.805T>C (p.Leu269=)
n.606T>C
n.315T>C
c.391T>C (p.Leu131=)
c.484T>C (p.Leu162=)
c.205T>C (p.Leu69=)
 dbSNP gnomAD v2
10g.124403022A>TCA378635564OATc.805T>A (p.Leu269Met)
n.606T>A
n.315T>A
c.391T>A (p.Leu131Met)
c.484T>A (p.Leu162Met)
c.205T>A (p.Leu69Met)
10g.124403023T>ACA471762838OATc.804A>T (p.Gly268=)
n.605A>T
n.314A>T
c.390A>T (p.Gly130=)
c.483A>T (p.Gly161=)
c.204A>T (p.Gly68=)
10g.124403023T>CCA5733414OATc.804A>G (p.Gly268=)
n.605A>G
n.314A>G
c.390A>G (p.Gly130=)
c.483A>G (p.Gly161=)
c.204A>G (p.Gly68=)
 dbSNP ExAC gnomAD v2
10g.124403023T>GCA471762839OATc.804A>C (p.Gly268=)
n.605A>C
n.314A>C
c.390A>C (p.Gly130=)
c.483A>C (p.Gly161=)
c.204A>C (p.Gly68=)
10g.124403023T=CA1942337940OATc.804A= (p.Gly268=)
n.605A=
n.314A=
c.390A= (p.Gly130=)
c.483A= (p.Gly161=)
c.204A= (p.Gly68=)
10g.124403024C>ACA378635567OATc.803G>T (p.Gly268Val)
n.604G>T
n.313G>T
c.389G>T (p.Gly130Val)
c.482G>T (p.Gly161Val)
c.203G>T (p.Gly68Val)
10g.124403024C>GCA378635568OATc.803G>C (p.Gly268Ala)
n.604G>C
n.313G>C
c.389G>C (p.Gly130Ala)
c.482G>C (p.Gly161Ala)
c.203G>C (p.Gly68Ala)
10g.124403024C>TCA378635569OATc.803G>A (p.Gly268Glu)
n.604G>A
n.313G>A
c.389G>A (p.Gly130Glu)
c.482G>A (p.Gly161Glu)
c.203G>A (p.Gly68Glu)
10g.124403025C>ACA378635570OATc.802G>T (p.Gly268Ter)
n.603G>T
n.312G>T
c.388G>T (p.Gly130Ter)
c.481G>T (p.Gly161Ter)
c.202G>T (p.Gly68Ter)
10g.124403025C=CA1942337941OATc.802G= (p.Gly268=)
n.603G=
n.312G=
c.388G= (p.Gly130=)
c.481G= (p.Gly161=)
c.202G= (p.Gly68=)
10g.124403025C>GCA378635572OATc.802G>C (p.Gly268Arg)
n.603G>C
n.312G>C
c.388G>C (p.Gly130Arg)
c.481G>C (p.Gly161Arg)
c.202G>C (p.Gly68Arg)
10g.124403025C>TCA378635571OATc.802G>A (p.Gly268Arg)
n.603G>A
n.312G>A
c.388G>A (p.Gly130Arg)
c.481G>A (p.Gly161Arg)
c.202G>A (p.Gly68Arg)
 dbSNP gnomAD v3 gnomAD v4
10g.124403026T>ACA471762842OATc.801A>T (p.Thr267=)
n.602A>T
n.311A>T
c.387A>T (p.Thr129=)
c.480A>T (p.Thr160=)
c.201A>T (p.Thr67=)
10g.124403026T>CCA471762841OATc.801A>G (p.Thr267=)
n.602A>G
n.311A>G
c.387A>G (p.Thr129=)
c.480A>G (p.Thr160=)
c.201A>G (p.Thr67=)
10g.124403026T>GCA471762840OATc.801A>C (p.Thr267=)
n.602A>C
n.311A>C
c.387A>C (p.Thr129=)
c.480A>C (p.Thr160=)
c.201A>C (p.Thr67=)
10g.124403027G>ACA144180OATc.800C>T (p.Thr267Ile)
n.601C>T
n.310C>T
c.386C>T (p.Thr129Ile)
c.479C>T (p.Thr160Ile)
c.200C>T (p.Thr67Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.124403027G>CCA378635573OATc.800C>G (p.Thr267Arg)
n.601C>G
n.310C>G
c.386C>G (p.Thr129Arg)
c.479C>G (p.Thr160Arg)
c.200C>G (p.Thr67Arg)
10g.124403027G=CA1942337942OATc.800C= (p.Thr267=)
n.601C=
n.310C=
c.386C= (p.Thr129=)
c.479C= (p.Thr160=)
c.200C= (p.Thr67=)
10g.124403027G>TCA378635574OATc.800C>A (p.Thr267Lys)
n.601C>A
n.310C>A
c.386C>A (p.Thr129Lys)
c.479C>A (p.Thr160Lys)
c.200C>A (p.Thr67Lys)
10g.124403028T>ACA378635576OATc.799A>T (p.Thr267Ser)
n.600A>T
n.309A>T
c.385A>T (p.Thr129Ser)
c.478A>T (p.Thr160Ser)
c.199A>T (p.Thr67Ser)
10g.124403028T>CCA378635577OATc.799A>G (p.Thr267Ala)
n.600A>G
n.309A>G
c.385A>G (p.Thr129Ala)
c.478A>G (p.Thr160Ala)
c.199A>G (p.Thr67Ala)
 ClinVar dbSNP
10g.124403028T>GCA378635578OATc.799A>C (p.Thr267Pro)
n.600A>C
n.309A>C
c.385A>C (p.Thr129Pro)
c.478A>C (p.Thr160Pro)
c.199A>C (p.Thr67Pro)
10g.124403028_124403029insACA2789814559OATc.798_799insT (p.Thr267TyrfsTer8)
n.599_600insT
n.308_309insT
c.384_385insT (p.Thr129TyrfsTer8)
c.477_478insT (p.Thr160TyrfsTer8)
c.198_199insT (p.Thr67TyrfsTer8)
10g.124403029C>ACA378635580OATc.798G>T (p.Gln266His)
n.599G>T
n.308G>T
c.384G>T (p.Gln128His)
c.477G>T (p.Gln159His)
c.198G>T (p.Gln66His)
10g.124403029C>GCA378635581OATc.798G>C (p.Gln266His)
n.599G>C
n.308G>C
c.384G>C (p.Gln128His)
c.477G>C (p.Gln159His)
c.198G>C (p.Gln66His)
10g.124403029C>TCA471762843OATc.798G>A (p.Gln266=)
n.599G>A
n.308G>A
c.384G>A (p.Gln128=)
c.477G>A (p.Gln159=)
c.198G>A (p.Gln66=)
10g.124403030T>ACA378635583OATc.797A>T (p.Gln266Leu)
n.598A>T
n.307A>T
c.383A>T (p.Gln128Leu)
c.476A>T (p.Gln159Leu)
c.197A>T (p.Gln66Leu)
10g.124403030T>CCA378635585OATc.797A>G (p.Gln266Arg)
n.598A>G
n.307A>G
c.383A>G (p.Gln128Arg)
c.476A>G (p.Gln159Arg)
c.197A>G (p.Gln66Arg)
 gnomAD v4
10g.124403030T>GCA378635586OATc.797A>C (p.Gln266Pro)
n.598A>C
n.307A>C
c.383A>C (p.Gln128Pro)
c.476A>C (p.Gln159Pro)
c.197A>C (p.Gln66Pro)
 gnomAD v4
10g.124403031G>ACA378635591OATc.796C>T (p.Gln266Ter)
n.597C>T
n.306C>T
c.382C>T (p.Gln128Ter)
c.475C>T (p.Gln159Ter)
c.196C>T (p.Gln66Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.124403031G>CCA378635589OATc.796C>G (p.Gln266Glu)
n.597C>G
n.306C>G
c.382C>G (p.Gln128Glu)
c.475C>G (p.Gln159Glu)
c.196C>G (p.Gln66Glu)
 gnomAD v4
10g.124403031G=CA1942337943OATc.796C= (p.Gln266=)
n.597C=
n.306C=
c.382C= (p.Gln128=)
c.475C= (p.Gln159=)
c.196C= (p.Gln66=)
10g.124403031G>TCA378635588OATc.796C>A (p.Gln266Lys)
n.597C>A
n.306C>A
c.382C>A (p.Gln128Lys)
c.475C>A (p.Gln159Lys)
c.196C>A (p.Gln66Lys)
 ClinVar dbSNP
10g.124403032T>ACA471762844OATc.795A>T (p.Ile265=)
n.596A>T
n.305A>T
c.381A>T (p.Ile127=)
c.474A>T (p.Ile158=)
c.195A>T (p.Ile65=)
10g.124403032T>CCA378635593OATc.795A>G (p.Ile265Met)
n.596A>G
n.305A>G
c.381A>G (p.Ile127Met)
c.474A>G (p.Ile158Met)
c.195A>G (p.Ile65Met)
10g.124403032T>GCA471762845OATc.795A>C (p.Ile265=)
n.596A>C
n.305A>C
c.381A>C (p.Ile127=)
c.474A>C (p.Ile158=)
c.195A>C (p.Ile65=)

Number of alleles fetched