Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.43252796G>ACA7521194TGM5c.825C>T (p.Tyr275=)
n.294C>T
c.579C>T (p.Tyr193=)
c.822C>T (p.Tyr274=)
c.576C>T (p.Tyr192=)
c.828C>T (p.Tyr276=)
n.999C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252796G>CCA392099011TGM5c.825C>G (p.Tyr275Ter)
n.294C>G
c.579C>G (p.Tyr193Ter)
c.822C>G (p.Tyr274Ter)
c.576C>G (p.Tyr192Ter)
c.828C>G (p.Tyr276Ter)
n.999C>G
15g.43252796G=CA2173102618TGM5c.825C= (p.Tyr275=)
n.294C=
c.579C= (p.Tyr193=)
c.822C= (p.Tyr274=)
c.576C= (p.Tyr192=)
c.828C= (p.Tyr276=)
n.999C=
15g.43252796G>TCA392099014TGM5c.825C>A (p.Tyr275Ter)
n.294C>A
c.579C>A (p.Tyr193Ter)
c.822C>A (p.Tyr274Ter)
c.576C>A (p.Tyr192Ter)
c.828C>A (p.Tyr276Ter)
n.999C>A
15g.43252797T>ACA392099016TGM5c.824A>T (p.Tyr275Phe)
n.293A>T
c.578A>T (p.Tyr193Phe)
c.821A>T (p.Tyr274Phe)
c.575A>T (p.Tyr192Phe)
c.827A>T (p.Tyr276Phe)
n.998A>T
15g.43252797T>CCA392099018TGM5c.824A>G (p.Tyr275Cys)
n.293A>G
c.578A>G (p.Tyr193Cys)
c.821A>G (p.Tyr274Cys)
c.575A>G (p.Tyr192Cys)
c.827A>G (p.Tyr276Cys)
n.998A>G
15g.43252797T>GCA392099020TGM5c.824A>C (p.Tyr275Ser)
n.293A>C
c.578A>C (p.Tyr193Ser)
c.821A>C (p.Tyr274Ser)
c.575A>C (p.Tyr192Ser)
c.827A>C (p.Tyr276Ser)
n.998A>C
15g.43252798A>CCA392099023TGM5c.823T>G (p.Tyr275Asp)
n.292T>G
c.577T>G (p.Tyr193Asp)
c.820T>G (p.Tyr274Asp)
c.574T>G (p.Tyr192Asp)
c.826T>G (p.Tyr276Asp)
n.997T>G
15g.43252798A>GCA392099025TGM5c.823T>C (p.Tyr275His)
n.292T>C
c.577T>C (p.Tyr193His)
c.820T>C (p.Tyr274His)
c.574T>C (p.Tyr192His)
c.826T>C (p.Tyr276His)
n.997T>C
15g.43252798A>TCA392099027TGM5c.823T>A (p.Tyr275Asn)
n.292T>A
c.577T>A (p.Tyr193Asn)
c.820T>A (p.Tyr274Asn)
c.574T>A (p.Tyr192Asn)
c.826T>A (p.Tyr276Asn)
n.997T>A
15g.43252799G>ACA490131451TGM5c.822C>T (p.Arg274=)
n.291C>T
c.576C>T (p.Arg192=)
c.819C>T (p.Arg273=)
c.573C>T (p.Arg191=)
c.825C>T (p.Arg275=)
n.996C>T
15g.43252799G>CCA490131453TGM5c.822C>G (p.Arg274=)
n.291C>G
c.576C>G (p.Arg192=)
c.819C>G (p.Arg273=)
c.573C>G (p.Arg191=)
c.825C>G (p.Arg275=)
n.996C>G
15g.43252799G>TCA490131452TGM5c.822C>A (p.Arg274=)
n.291C>A
c.576C>A (p.Arg192=)
c.819C>A (p.Arg273=)
c.573C>A (p.Arg191=)
c.825C>A (p.Arg275=)
n.996C>A
15g.43252800C>ACA7521196TGM5c.821G>T (p.Arg274Leu)
n.290G>T
c.575G>T (p.Arg192Leu)
c.818G>T (p.Arg273Leu)
c.572G>T (p.Arg191Leu)
c.824G>T (p.Arg275Leu)
n.995G>T
dbSNP ExAC gnomAD v4
15g.43252800C=CA2173102619TGM5c.821G= (p.Arg274=)
n.290G=
c.575G= (p.Arg192=)
c.818G= (p.Arg273=)
c.572G= (p.Arg191=)
c.824G= (p.Arg275=)
n.995G=
15g.43252800C>GCA392099032TGM5c.821G>C (p.Arg274Pro)
n.290G>C
c.575G>C (p.Arg192Pro)
c.818G>C (p.Arg273Pro)
c.572G>C (p.Arg191Pro)
c.824G>C (p.Arg275Pro)
n.995G>C
15g.43252800C>TCA7521195TGM5c.821G>A (p.Arg274His)
n.290G>A
c.575G>A (p.Arg192His)
c.818G>A (p.Arg273His)
c.572G>A (p.Arg191His)
c.824G>A (p.Arg275His)
n.995G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252801G>ACA7521198TGM5c.820C>T (p.Arg274Cys)
n.289C>T
c.574C>T (p.Arg192Cys)
c.817C>T (p.Arg273Cys)
c.571C>T (p.Arg191Cys)
c.823C>T (p.Arg275Cys)
n.994C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.43252801G>CCA392099038TGM5c.820C>G (p.Arg274Gly)
n.289C>G
c.574C>G (p.Arg192Gly)
c.817C>G (p.Arg273Gly)
c.571C>G (p.Arg191Gly)
c.823C>G (p.Arg275Gly)
n.994C>G
15g.43252801G=CA2173102620TGM5c.820C= (p.Arg274=)
n.289C=
c.574C= (p.Arg192=)
c.817C= (p.Arg273=)
c.571C= (p.Arg191=)
c.823C= (p.Arg275=)
n.994C=
15g.43252801G>TCA7521197TGM5c.820C>A (p.Arg274Ser)
n.289C>A
c.574C>A (p.Arg192Ser)
c.817C>A (p.Arg273Ser)
c.571C>A (p.Arg191Ser)
c.823C>A (p.Arg275Ser)
n.994C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.43252802C>ACA490131454TGM5c.819G>T (p.Val273=)
n.288G>T
c.573G>T (p.Val191=)
c.816G>T (p.Val272=)
c.570G>T (p.Val190=)
c.822G>T (p.Val274=)
n.993G>T
15g.43252802C=CA2173102621TGM5c.819G= (p.Val273=)
n.288G=
c.573G= (p.Val191=)
c.816G= (p.Val272=)
c.570G= (p.Val190=)
c.822G= (p.Val274=)
n.993G=
15g.43252802C>GCA490131455TGM5c.819G>C (p.Val273=)
n.288G>C
c.573G>C (p.Val191=)
c.816G>C (p.Val272=)
c.570G>C (p.Val190=)
c.822G>C (p.Val274=)
n.993G>C
dbSNP gnomAD v2 gnomAD v4
15g.43252802C>TCA490131456TGM5c.819G>A (p.Val273=)
n.288G>A
c.573G>A (p.Val191=)
c.816G>A (p.Val272=)
c.570G>A (p.Val190=)
c.822G>A (p.Val274=)
n.993G>A
dbSNP gnomAD v4
15g.43252803A=CA2173102622TGM5c.818T= (p.Val273=)
n.287T=
c.572T= (p.Val191=)
c.815T= (p.Val272=)
c.569T= (p.Val190=)
c.821T= (p.Val274=)
n.992T=
15g.43252803A>CCA392099040TGM5c.818T>G (p.Val273Gly)
n.287T>G
c.572T>G (p.Val191Gly)
c.815T>G (p.Val272Gly)
c.569T>G (p.Val190Gly)
c.821T>G (p.Val274Gly)
n.992T>G
gnomAD v4
15g.43252803A>GCA392099041TGM5c.818T>C (p.Val273Ala)
n.287T>C
c.572T>C (p.Val191Ala)
c.815T>C (p.Val272Ala)
c.569T>C (p.Val190Ala)
c.821T>C (p.Val274Ala)
n.992T>C
dbSNP gnomAD v3 gnomAD v4
15g.43252803A>TCA392099044TGM5c.818T>A (p.Val273Glu)
n.287T>A
c.572T>A (p.Val191Glu)
c.815T>A (p.Val272Glu)
c.569T>A (p.Val190Glu)
c.821T>A (p.Val274Glu)
n.992T>A
dbSNP gnomAD v4
15g.43252804C>ACA392099047TGM5c.817G>T (p.Val273Leu)
n.286G>T
c.571G>T (p.Val191Leu)
c.814G>T (p.Val272Leu)
c.568G>T (p.Val190Leu)
c.820G>T (p.Val274Leu)
n.991G>T
15g.43252804C=CA2173102623TGM5c.817G= (p.Val273=)
n.286G=
c.571G= (p.Val191=)
c.814G= (p.Val272=)
c.568G= (p.Val190=)
c.820G= (p.Val274=)
n.991G=
15g.43252804C>GCA7521200TGM5c.817G>C (p.Val273Leu)
n.286G>C
c.571G>C (p.Val191Leu)
c.814G>C (p.Val272Leu)
c.568G>C (p.Val190Leu)
c.820G>C (p.Val274Leu)
n.991G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252804C>TCA7521199TGM5c.817G>A (p.Val273Met)
n.286G>A
c.571G>A (p.Val191Met)
c.814G>A (p.Val272Met)
c.568G>A (p.Val190Met)
c.820G>A (p.Val274Met)
n.991G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252804_43252805delinsCGCA2173102624TGM5c.816_817delinsCG (p.Pro272=)
n.285_286delinsCG
c.570_571delinsCG (p.Pro190=)
c.813_814delinsCG (p.Pro271=)
c.567_568delinsCG (p.Pro189=)
c.819_820delinsCG (p.Pro273=)
n.990_991delinsCG
15g.43252805G>ACA7521202TGM5c.816C>T (p.Pro272=)
n.285C>T
c.570C>T (p.Pro190=)
c.813C>T (p.Pro271=)
c.567C>T (p.Pro189=)
c.819C>T (p.Pro273=)
n.990C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252805G>CCA490131457TGM5c.816C>G (p.Pro272=)
n.285C>G
c.570C>G (p.Pro190=)
c.813C>G (p.Pro271=)
c.567C>G (p.Pro189=)
c.819C>G (p.Pro273=)
n.990C>G
15g.43252805G=CA2173102625TGM5c.816C= (p.Pro272=)
n.285C=
c.570C= (p.Pro190=)
c.813C= (p.Pro271=)
c.567C= (p.Pro189=)
c.819C= (p.Pro273=)
n.990C=
15g.43252805G>TCA490131458TGM5c.816C>A (p.Pro272=)
n.285C>A
c.570C>A (p.Pro190=)
c.813C>A (p.Pro271=)
c.567C>A (p.Pro189=)
c.819C>A (p.Pro273=)
n.990C>A
15g.43252807delCA7521201TGM5c.816del (p.Val273CysfsTer16)
n.285del
c.570del (p.Val191CysfsTer16)
c.813del (p.Val272CysfsTer16)
c.567del (p.Val190CysfsTer16)
c.819del (p.Val274CysfsTer16)
n.990del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252806G>ACA392099064TGM5c.815C>T (p.Pro272Leu)
n.284C>T
c.569C>T (p.Pro190Leu)
c.812C>T (p.Pro271Leu)
c.566C>T (p.Pro189Leu)
c.818C>T (p.Pro273Leu)
n.989C>T
15g.43252806G>CCA392099066TGM5c.815C>G (p.Pro272Arg)
n.284C>G
c.569C>G (p.Pro190Arg)
c.812C>G (p.Pro271Arg)
c.566C>G (p.Pro189Arg)
c.818C>G (p.Pro273Arg)
n.989C>G
15g.43252806G>TCA392099062TGM5c.815C>A (p.Pro272His)
n.284C>A
c.569C>A (p.Pro190His)
c.812C>A (p.Pro271His)
c.566C>A (p.Pro189His)
c.818C>A (p.Pro273His)
n.989C>A
15g.43252807G>ACA392099070TGM5c.814C>T (p.Pro272Ser)
n.283C>T
c.568C>T (p.Pro190Ser)
c.811C>T (p.Pro271Ser)
c.565C>T (p.Pro189Ser)
c.817C>T (p.Pro273Ser)
n.988C>T
gnomAD v4
15g.43252807G>CCA392099071TGM5c.814C>G (p.Pro272Ala)
n.283C>G
c.568C>G (p.Pro190Ala)
c.811C>G (p.Pro271Ala)
c.565C>G (p.Pro189Ala)
c.817C>G (p.Pro273Ala)
n.988C>G
15g.43252807G>TCA392099073TGM5c.814C>A (p.Pro272Thr)
n.283C>A
c.568C>A (p.Pro190Thr)
c.811C>A (p.Pro271Thr)
c.565C>A (p.Pro189Thr)
c.817C>A (p.Pro273Thr)
n.988C>A
15g.43252808C>ACA392099076TGM5c.813G>T (p.Gln271His)
n.282G>T
c.567G>T (p.Gln189His)
c.810G>T (p.Gln270His)
c.564G>T (p.Gln188His)
c.816G>T (p.Gln272His)
n.987G>T
15g.43252808C>GCA392099079TGM5c.813G>C (p.Gln271His)
n.282G>C
c.567G>C (p.Gln189His)
c.810G>C (p.Gln270His)
c.564G>C (p.Gln188His)
c.816G>C (p.Gln272His)
n.987G>C
15g.43252808C>TCA490131459TGM5c.813G>A (p.Gln271=)
n.282G>A
c.567G>A (p.Gln189=)
c.810G>A (p.Gln270=)
c.564G>A (p.Gln188=)
c.816G>A (p.Gln272=)
n.987G>A
gnomAD v4
15g.43252809T>ACA392099081TGM5c.812A>T (p.Gln271Leu)
n.281A>T
c.566A>T (p.Gln189Leu)
c.809A>T (p.Gln270Leu)
c.563A>T (p.Gln188Leu)
c.815A>T (p.Gln272Leu)
n.986A>T
15g.43252809T>CCA392099084TGM5c.812A>G (p.Gln271Arg)
n.281A>G
c.566A>G (p.Gln189Arg)
c.809A>G (p.Gln270Arg)
c.563A>G (p.Gln188Arg)
c.815A>G (p.Gln272Arg)
n.986A>G
15g.43252809T>GCA392099086TGM5c.812A>C (p.Gln271Pro)
n.281A>C
c.566A>C (p.Gln189Pro)
c.809A>C (p.Gln270Pro)
c.563A>C (p.Gln188Pro)
c.815A>C (p.Gln272Pro)
n.986A>C
15g.43252810G>ACA392099089TGM5c.811C>T (p.Gln271Ter)
n.280C>T
c.565C>T (p.Gln189Ter)
c.808C>T (p.Gln270Ter)
c.562C>T (p.Gln188Ter)
c.814C>T (p.Gln272Ter)
n.985C>T
15g.43252810G>CCA392099091TGM5c.811C>G (p.Gln271Glu)
n.280C>G
c.565C>G (p.Gln189Glu)
c.808C>G (p.Gln270Glu)
c.562C>G (p.Gln188Glu)
c.814C>G (p.Gln272Glu)
n.985C>G
15g.43252810G>TCA392099092TGM5c.811C>A (p.Gln271Lys)
n.280C>A
c.565C>A (p.Gln189Lys)
c.808C>A (p.Gln270Lys)
c.562C>A (p.Gln188Lys)
c.814C>A (p.Gln272Lys)
n.985C>A
15g.43252811G>ACA7521203TGM5c.810C>T (p.Cys270=)
n.279C>T
c.564C>T (p.Cys188=)
c.807C>T (p.Cys269=)
c.561C>T (p.Cys187=)
c.813C>T (p.Cys271=)
n.984C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252811G>CCA392099095TGM5c.810C>G (p.Cys270Trp)
n.279C>G
c.564C>G (p.Cys188Trp)
c.807C>G (p.Cys269Trp)
c.561C>G (p.Cys187Trp)
c.813C>G (p.Cys271Trp)
n.984C>G
15g.43252811G=CA2173102626TGM5c.810C= (p.Cys270=)
n.279C=
c.564C= (p.Cys188=)
c.807C= (p.Cys269=)
c.561C= (p.Cys187=)
c.813C= (p.Cys271=)
n.984C=
15g.43252811G>TCA392099097TGM5c.810C>A (p.Cys270Ter)
n.279C>A
c.564C>A (p.Cys188Ter)
c.807C>A (p.Cys269Ter)
c.561C>A (p.Cys187Ter)
c.813C>A (p.Cys271Ter)
n.984C>A
15g.43252812C>ACA392099100TGM5c.809G>T (p.Cys270Phe)
n.278G>T
c.563G>T (p.Cys188Phe)
c.806G>T (p.Cys269Phe)
c.560G>T (p.Cys187Phe)
c.812G>T (p.Cys271Phe)
n.983G>T
15g.43252812C>GCA392099102TGM5c.809G>C (p.Cys270Ser)
n.278G>C
c.563G>C (p.Cys188Ser)
c.806G>C (p.Cys269Ser)
c.560G>C (p.Cys187Ser)
c.812G>C (p.Cys271Ser)
n.983G>C
15g.43252812C>TCA392099104TGM5c.809G>A (p.Cys270Tyr)
n.278G>A
c.563G>A (p.Cys188Tyr)
c.806G>A (p.Cys269Tyr)
c.560G>A (p.Cys187Tyr)
c.812G>A (p.Cys271Tyr)
n.983G>A
gnomAD v4
15g.43252812_43252813delCA2573054006TGM5c.808_809del (p.Cys270ProfsTer?)
n.277_278del
c.562_563del (p.Cys188ProfsTer?)
c.805_806del (p.Cys269ProfsTer?)
c.559_560del (p.Cys187ProfsTer?)
c.811_812del (p.Cys271ProfsTer?)
n.982_983del
dbSNP
15g.43252813A>CCA392099108TGM5c.808T>G (p.Cys270Gly)
n.277T>G
c.562T>G (p.Cys188Gly)
c.805T>G (p.Cys269Gly)
c.559T>G (p.Cys187Gly)
c.811T>G (p.Cys271Gly)
n.982T>G
gnomAD v4
15g.43252813A>GCA392099110TGM5c.808T>C (p.Cys270Arg)
n.277T>C
c.562T>C (p.Cys188Arg)
c.805T>C (p.Cys269Arg)
c.559T>C (p.Cys187Arg)
c.811T>C (p.Cys271Arg)
n.982T>C
15g.43252813A>TCA392099112TGM5c.808T>A (p.Cys270Ser)
n.277T>A
c.562T>A (p.Cys188Ser)
c.805T>A (p.Cys269Ser)
c.559T>A (p.Cys187Ser)
c.811T>A (p.Cys271Ser)
n.982T>A
15g.43252814G>ACA490131462TGM5c.807C>T (p.Gly269=)
n.276C>T
c.561C>T (p.Gly187=)
c.804C>T (p.Gly268=)
c.558C>T (p.Gly186=)
c.810C>T (p.Gly270=)
n.981C>T
15g.43252814G>CCA490131460TGM5c.807C>G (p.Gly269=)
n.276C>G
c.561C>G (p.Gly187=)
c.804C>G (p.Gly268=)
c.558C>G (p.Gly186=)
c.810C>G (p.Gly270=)
n.981C>G
gnomAD v4
15g.43252814G>TCA490131461TGM5c.807C>A (p.Gly269=)
n.276C>A
c.561C>A (p.Gly187=)
c.804C>A (p.Gly268=)
c.558C>A (p.Gly186=)
c.810C>A (p.Gly270=)
n.981C>A
15g.43252815C>ACA392099116TGM5c.806G>T (p.Gly269Val)
n.275G>T
c.560G>T (p.Gly187Val)
c.803G>T (p.Gly268Val)
c.557G>T (p.Gly186Val)
c.809G>T (p.Gly270Val)
n.980G>T
15g.43252815C=CA2173102627TGM5c.806G= (p.Gly269=)
n.275G=
c.560G= (p.Gly187=)
c.803G= (p.Gly268=)
c.557G= (p.Gly186=)
c.809G= (p.Gly270=)
n.980G=
15g.43252815C>GCA392099118TGM5c.806G>C (p.Gly269Ala)
n.275G>C
c.560G>C (p.Gly187Ala)
c.803G>C (p.Gly268Ala)
c.557G>C (p.Gly186Ala)
c.809G>C (p.Gly270Ala)
n.980G>C
15g.43252815C>TCA392099119TGM5c.806G>A (p.Gly269Asp)
n.275G>A
c.560G>A (p.Gly187Asp)
c.803G>A (p.Gly268Asp)
c.557G>A (p.Gly186Asp)
c.809G>A (p.Gly270Asp)
n.980G>A
dbSNP gnomAD v3 gnomAD v4
15g.43252816C>ACA392099122TGM5c.805G>T (p.Gly269Cys)
n.274G>T
c.559G>T (p.Gly187Cys)
c.802G>T (p.Gly268Cys)
c.556G>T (p.Gly186Cys)
c.808G>T (p.Gly270Cys)
n.979G>T
15g.43252816C=CA2173102628TGM5c.805G= (p.Gly269=)
n.274G=
c.559G= (p.Gly187=)
c.802G= (p.Gly268=)
c.556G= (p.Gly186=)
c.808G= (p.Gly270=)
n.979G=
15g.43252816C>GCA392099124TGM5c.805G>C (p.Gly269Arg)
n.274G>C
c.559G>C (p.Gly187Arg)
c.802G>C (p.Gly268Arg)
c.556G>C (p.Gly186Arg)
c.808G>C (p.Gly270Arg)
n.979G>C
15g.43252816C>TCA7521204TGM5c.805G>A (p.Gly269Ser)
n.274G>A
c.559G>A (p.Gly187Ser)
c.802G>A (p.Gly268Ser)
c.556G>A (p.Gly186Ser)
c.808G>A (p.Gly270Ser)
n.979G>A
dbSNP ExAC gnomAD v2 gnomAD v4
15g.43252817T>ACA490131463TGM5c.804A>T (p.Thr268=)
n.273A>T
c.558A>T (p.Thr186=)
c.801A>T (p.Thr267=)
c.555A>T (p.Thr185=)
c.807A>T (p.Thr269=)
n.978A>T
15g.43252817T>CCA490131464TGM5c.804A>G (p.Thr268=)
n.273A>G
c.558A>G (p.Thr186=)
c.801A>G (p.Thr267=)
c.555A>G (p.Thr185=)
c.807A>G (p.Thr269=)
n.978A>G
dbSNP
15g.43252817T>GCA490131465TGM5c.804A>C (p.Thr268=)
n.273A>C
c.558A>C (p.Thr186=)
c.801A>C (p.Thr267=)
c.555A>C (p.Thr185=)
c.807A>C (p.Thr269=)
n.978A>C
15g.43252817T=CA2173102629TGM5c.804A= (p.Thr268=)
n.273A=
c.558A= (p.Thr186=)
c.801A= (p.Thr267=)
c.555A= (p.Thr185=)
c.807A= (p.Thr269=)
n.978A=
15g.43252818G>ACA392099130TGM5c.803C>T (p.Thr268Ile)
n.272C>T
c.557C>T (p.Thr186Ile)
c.800C>T (p.Thr267Ile)
c.554C>T (p.Thr185Ile)
c.806C>T (p.Thr269Ile)
n.977C>T
dbSNP gnomAD v2 gnomAD v4
15g.43252818G>CCA392099133TGM5c.803C>G (p.Thr268Arg)
n.272C>G
c.557C>G (p.Thr186Arg)
c.800C>G (p.Thr267Arg)
c.554C>G (p.Thr185Arg)
c.806C>G (p.Thr269Arg)
n.977C>G
15g.43252818G=CA2173102630TGM5c.803C= (p.Thr268=)
n.272C=
c.557C= (p.Thr186=)
c.800C= (p.Thr267=)
c.554C= (p.Thr185=)
c.806C= (p.Thr269=)
n.977C=
15g.43252818G>TCA392099128TGM5c.803C>A (p.Thr268Lys)
n.272C>A
c.557C>A (p.Thr186Lys)
c.800C>A (p.Thr267Lys)
c.554C>A (p.Thr185Lys)
c.806C>A (p.Thr269Lys)
n.977C>A
dbSNP gnomAD v3 gnomAD v4
15g.43252819T>ACA392099139TGM5c.802A>T (p.Thr268Ser)
n.271A>T
c.556A>T (p.Thr186Ser)
c.799A>T (p.Thr267Ser)
c.553A>T (p.Thr185Ser)
c.805A>T (p.Thr269Ser)
n.976A>T
15g.43252819T>CCA392099135TGM5c.802A>G (p.Thr268Ala)
n.271A>G
c.556A>G (p.Thr186Ala)
c.799A>G (p.Thr267Ala)
c.553A>G (p.Thr185Ala)
c.805A>G (p.Thr269Ala)
n.976A>G
15g.43252819T>GCA392099137TGM5c.802A>C (p.Thr268Pro)
n.271A>C
c.556A>C (p.Thr186Pro)
c.799A>C (p.Thr267Pro)
c.553A>C (p.Thr185Pro)
c.805A>C (p.Thr269Pro)
n.976A>C
15g.43252820G>ACA490131466TGM5c.801C>T (p.Ala267=)
n.270C>T
c.555C>T (p.Ala185=)
c.798C>T (p.Ala266=)
c.552C>T (p.Ala184=)
c.804C>T (p.Ala268=)
n.975C>T
15g.43252820G>CCA490131467TGM5c.801C>G (p.Ala267=)
n.270C>G
c.555C>G (p.Ala185=)
c.798C>G (p.Ala266=)
c.552C>G (p.Ala184=)
c.804C>G (p.Ala268=)
n.975C>G
15g.43252820G>TCA490131468TGM5c.801C>A (p.Ala267=)
n.270C>A
c.555C>A (p.Ala185=)
c.798C>A (p.Ala266=)
c.552C>A (p.Ala184=)
c.804C>A (p.Ala268=)
n.975C>A
15g.43252821G>ACA392099143TGM5c.800C>T (p.Ala267Val)
n.269C>T
c.554C>T (p.Ala185Val)
c.797C>T (p.Ala266Val)
c.551C>T (p.Ala184Val)
c.803C>T (p.Ala268Val)
n.974C>T
15g.43252821G>CCA392099145TGM5c.800C>G (p.Ala267Gly)
n.269C>G
c.554C>G (p.Ala185Gly)
c.797C>G (p.Ala266Gly)
c.551C>G (p.Ala184Gly)
c.803C>G (p.Ala268Gly)
n.974C>G
15g.43252821G>TCA392099147TGM5c.800C>A (p.Ala267Asp)
n.269C>A
c.554C>A (p.Ala185Asp)
c.797C>A (p.Ala266Asp)
c.551C>A (p.Ala184Asp)
c.803C>A (p.Ala268Asp)
n.974C>A
15g.43252822C>ACA392099153TGM5c.799G>T (p.Ala267Ser)
n.268G>T
c.553G>T (p.Ala185Ser)
c.796G>T (p.Ala266Ser)
c.550G>T (p.Ala184Ser)
c.802G>T (p.Ala268Ser)
n.973G>T
15g.43252822C=CA2173102631TGM5c.799G= (p.Ala267=)
n.268G=
c.553G= (p.Ala185=)
c.796G= (p.Ala266=)
c.550G= (p.Ala184=)
c.802G= (p.Ala268=)
n.973G=
15g.43252822C>GCA392099150TGM5c.799G>C (p.Ala267Pro)
n.268G>C
c.553G>C (p.Ala185Pro)
c.796G>C (p.Ala266Pro)
c.550G>C (p.Ala184Pro)
c.802G>C (p.Ala268Pro)
n.973G>C
15g.43252822C>TCA7521205TGM5c.799G>A (p.Ala267Thr)
n.268G>A
c.553G>A (p.Ala185Thr)
c.796G>A (p.Ala266Thr)
c.550G>A (p.Ala184Thr)
c.802G>A (p.Ala268Thr)
n.973G>A
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
15g.43252823G>ACA7521206TGM5c.798C>T (p.Asn266=)
n.267C>T
c.552C>T (p.Asn184=)
c.795C>T (p.Asn265=)
c.549C>T (p.Asn183=)
c.801C>T (p.Asn267=)
n.972C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.43252823G>CCA392099157TGM5c.798C>G (p.Asn266Lys)
n.267C>G
c.552C>G (p.Asn184Lys)
c.795C>G (p.Asn265Lys)
c.549C>G (p.Asn183Lys)
c.801C>G (p.Asn267Lys)
n.972C>G
gnomAD v4
15g.43252823G=CA2173102632TGM5c.798C= (p.Asn266=)
n.267C=
c.552C= (p.Asn184=)
c.795C= (p.Asn265=)
c.549C= (p.Asn183=)
c.801C= (p.Asn267=)
n.972C=
15g.43252823G>TCA392099159TGM5c.798C>A (p.Asn266Lys)
n.267C>A
c.552C>A (p.Asn184Lys)
c.795C>A (p.Asn265Lys)
c.549C>A (p.Asn183Lys)
c.801C>A (p.Asn267Lys)
n.972C>A
15g.43252824T>ACA392099162TGM5c.797A>T (p.Asn266Ile)
n.266A>T
c.551A>T (p.Asn184Ile)
c.794A>T (p.Asn265Ile)
c.548A>T (p.Asn183Ile)
c.800A>T (p.Asn267Ile)
n.971A>T
15g.43252824T>CCA392099165TGM5c.797A>G (p.Asn266Ser)
n.266A>G
c.551A>G (p.Asn184Ser)
c.794A>G (p.Asn265Ser)
c.548A>G (p.Asn183Ser)
c.800A>G (p.Asn267Ser)
n.971A>G
15g.43252824T>GCA392099167TGM5c.797A>C (p.Asn266Thr)
n.266A>C
c.551A>C (p.Asn184Thr)
c.794A>C (p.Asn265Thr)
c.548A>C (p.Asn183Thr)
c.800A>C (p.Asn267Thr)
n.971A>C
15g.43252825T>ACA392099170TGM5c.796A>T (p.Asn266Tyr)
n.265A>T
c.550A>T (p.Asn184Tyr)
c.793A>T (p.Asn265Tyr)
c.547A>T (p.Asn183Tyr)
c.799A>T (p.Asn267Tyr)
n.970A>T
15g.43252825T>CCA392099175TGM5c.796A>G (p.Asn266Asp)
n.265A>G
c.550A>G (p.Asn184Asp)
c.793A>G (p.Asn265Asp)
c.547A>G (p.Asn183Asp)
c.799A>G (p.Asn267Asp)
n.970A>G
15g.43252825T>GCA392099173TGM5c.796A>C (p.Asn266His)
n.265A>C
c.550A>C (p.Asn184His)
c.793A>C (p.Asn265His)
c.547A>C (p.Asn183His)
c.799A>C (p.Asn267His)
n.970A>C
15g.43252826C>ACA392099176TGM5c.795G>T (p.Trp265Cys)
n.264G>T
c.549G>T (p.Trp183Cys)
c.792G>T (p.Trp264Cys)
c.546G>T (p.Trp182Cys)
c.798G>T (p.Trp266Cys)
n.969G>T
15g.43252826C=CA2173102633TGM5c.795G= (p.Trp265=)
n.264G=
c.549G= (p.Trp183=)
c.792G= (p.Trp264=)
c.546G= (p.Trp182=)
c.798G= (p.Trp266=)
n.969G=
15g.43252826C>GCA392099179TGM5c.795G>C (p.Trp265Cys)
n.264G>C
c.549G>C (p.Trp183Cys)
c.792G>C (p.Trp264Cys)
c.546G>C (p.Trp182Cys)
c.798G>C (p.Trp266Cys)
n.969G>C
15g.43252826C>TCA269975286TGM5c.795G>A (p.Trp265Ter)
n.264G>A
c.549G>A (p.Trp183Ter)
c.792G>A (p.Trp264Ter)
c.546G>A (p.Trp182Ter)
c.798G>A (p.Trp266Ter)
n.969G>A
dbSNP
15g.43252827C>ACA392099182TGM5c.794G>T (p.Trp265Leu)
n.263G>T
c.548G>T (p.Trp183Leu)
c.791G>T (p.Trp264Leu)
c.545G>T (p.Trp182Leu)
c.797G>T (p.Trp266Leu)
n.968G>T
15g.43252827C>GCA392099184TGM5c.794G>C (p.Trp265Ser)
n.263G>C
c.548G>C (p.Trp183Ser)
c.791G>C (p.Trp264Ser)
c.545G>C (p.Trp182Ser)
c.797G>C (p.Trp266Ser)
n.968G>C
15g.43252827C>TCA392099187TGM5c.794G>A (p.Trp265Ter)
n.263G>A
c.548G>A (p.Trp183Ter)
c.791G>A (p.Trp264Ter)
c.545G>A (p.Trp182Ter)
c.797G>A (p.Trp266Ter)
n.968G>A
gnomAD v4
15g.43252828A>CCA392099190TGM5c.793T>G (p.Trp265Gly)
n.262T>G
c.547T>G (p.Trp183Gly)
c.790T>G (p.Trp264Gly)
c.544T>G (p.Trp182Gly)
c.796T>G (p.Trp266Gly)
n.967T>G
15g.43252828A>GCA392099192TGM5c.793T>C (p.Trp265Arg)
n.262T>C
c.547T>C (p.Trp183Arg)
c.790T>C (p.Trp264Arg)
c.544T>C (p.Trp182Arg)
c.796T>C (p.Trp266Arg)
n.967T>C
15g.43252828A>TCA392099194TGM5c.793T>A (p.Trp265Arg)
n.262T>A
c.547T>A (p.Trp183Arg)
c.790T>A (p.Trp264Arg)
c.544T>A (p.Trp182Arg)
c.796T>A (p.Trp266Arg)
n.967T>A
15g.43252829C>ACA392099196TGM5c.792G>T (p.Gln264His)
n.261G>T
c.546G>T (p.Gln182His)
c.789G>T (p.Gln263His)
c.543G>T (p.Gln181His)
c.795G>T (p.Gln265His)
n.966G>T
15g.43252829C=CA2173102634TGM5c.792G= (p.Gln264=)
n.261G=
c.546G= (p.Gln182=)
c.789G= (p.Gln263=)
c.543G= (p.Gln181=)
c.795G= (p.Gln265=)
n.966G=
15g.43252829C>GCA392099197TGM5c.792G>C (p.Gln264His)
n.261G>C
c.546G>C (p.Gln182His)
c.789G>C (p.Gln263His)
c.543G>C (p.Gln181His)
c.795G>C (p.Gln265His)
n.966G>C
15g.43252829C>TCA269975289TGM5c.792G>A (p.Gln264=)
n.261G>A
c.546G>A (p.Gln182=)
c.789G>A (p.Gln263=)
c.543G>A (p.Gln181=)
c.795G>A (p.Gln265=)
n.966G>A
dbSNP
15g.43252830T>ACA392099200TGM5c.791A>T (p.Gln264Leu)
n.260A>T
c.545A>T (p.Gln182Leu)
c.788A>T (p.Gln263Leu)
c.542A>T (p.Gln181Leu)
c.794A>T (p.Gln265Leu)
n.965A>T
15g.43252830T>CCA7521207TGM5c.791A>G (p.Gln264Arg)
n.260A>G
c.545A>G (p.Gln182Arg)
c.788A>G (p.Gln263Arg)
c.542A>G (p.Gln181Arg)
c.794A>G (p.Gln265Arg)
n.965A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252830T>GCA392099198TGM5c.791A>C (p.Gln264Pro)
n.260A>C
c.545A>C (p.Gln182Pro)
c.788A>C (p.Gln263Pro)
c.542A>C (p.Gln181Pro)
c.794A>C (p.Gln265Pro)
n.965A>C
15g.43252830T=CA2173102635TGM5c.791A= (p.Gln264=)
n.260A=
c.545A= (p.Gln182=)
c.788A= (p.Gln263=)
c.542A= (p.Gln181=)
c.794A= (p.Gln265=)
n.965A=
15g.43252831G>ACA392099203TGM5c.790C>T (p.Gln264Ter)
n.259C>T
c.544C>T (p.Gln182Ter)
c.787C>T (p.Gln263Ter)
c.541C>T (p.Gln181Ter)
c.793C>T (p.Gln265Ter)
n.964C>T
15g.43252831G>CCA392099205TGM5c.790C>G (p.Gln264Glu)
n.259C>G
c.544C>G (p.Gln182Glu)
c.787C>G (p.Gln263Glu)
c.541C>G (p.Gln181Glu)
c.793C>G (p.Gln265Glu)
n.964C>G
gnomAD v4
15g.43252831G=CA2173102636TGM5c.790C= (p.Gln264=)
n.259C=
c.544C= (p.Gln182=)
c.787C= (p.Gln263=)
c.541C= (p.Gln181=)
c.793C= (p.Gln265=)
n.964C=
15g.43252831G>TCA269975290TGM5c.790C>A (p.Gln264Lys)
n.259C>A
c.544C>A (p.Gln182Lys)
c.787C>A (p.Gln263Lys)
c.541C>A (p.Gln181Lys)
c.793C>A (p.Gln265Lys)
n.964C>A
dbSNP gnomAD v2 gnomAD v4
15g.43252832C>ACA392099209TGM5c.789G>T (p.Lys263Asn)
n.258G>T
c.543G>T (p.Lys181Asn)
c.786G>T (p.Lys262Asn)
c.540G>T (p.Lys180Asn)
c.792G>T (p.Lys264Asn)
n.963G>T
15g.43252832C=CA2173102637TGM5c.789G= (p.Lys263=)
n.258G=
c.543G= (p.Lys181=)
c.786G= (p.Lys262=)
c.540G= (p.Lys180=)
c.792G= (p.Lys264=)
n.963G=
15g.43252832C>GCA392099211TGM5c.789G>C (p.Lys263Asn)
n.258G>C
c.543G>C (p.Lys181Asn)
c.786G>C (p.Lys262Asn)
c.540G>C (p.Lys180Asn)
c.792G>C (p.Lys264Asn)
n.963G>C
15g.43252832C>TCA490131469TGM5c.789G>A (p.Lys263=)
n.258G>A
c.543G>A (p.Lys181=)
c.786G>A (p.Lys262=)
c.540G>A (p.Lys180=)
c.792G>A (p.Lys264=)
n.963G>A
dbSNP gnomAD v4
15g.43252833T>ACA392099214TGM5c.788A>T (p.Lys263Met)
n.257A>T
c.542A>T (p.Lys181Met)
c.785A>T (p.Lys262Met)
c.539A>T (p.Lys180Met)
c.791A>T (p.Lys264Met)
n.962A>T
15g.43252833T>CCA392099216TGM5c.788A>G (p.Lys263Arg)
n.257A>G
c.542A>G (p.Lys181Arg)
c.785A>G (p.Lys262Arg)
c.539A>G (p.Lys180Arg)
c.791A>G (p.Lys264Arg)
n.962A>G
15g.43252833T>GCA392099219TGM5c.788A>C (p.Lys263Thr)
n.257A>C
c.542A>C (p.Lys181Thr)
c.785A>C (p.Lys262Thr)
c.539A>C (p.Lys180Thr)
c.791A>C (p.Lys264Thr)
n.962A>C
15g.43252834T>ACA392099222TGM5c.787A>T (p.Lys263Ter)
n.256A>T
c.541A>T (p.Lys181Ter)
c.784A>T (p.Lys262Ter)
c.538A>T (p.Lys180Ter)
c.790A>T (p.Lys264Ter)
n.961A>T
15g.43252834T>CCA392099226TGM5c.787A>G (p.Lys263Glu)
n.256A>G
c.541A>G (p.Lys181Glu)
c.784A>G (p.Lys262Glu)
c.538A>G (p.Lys180Glu)
c.790A>G (p.Lys264Glu)
n.961A>G
15g.43252834T>GCA392099229TGM5c.787A>C (p.Lys263Gln)
n.256A>C
c.541A>C (p.Lys181Gln)
c.784A>C (p.Lys262Gln)
c.538A>C (p.Lys180Gln)
c.790A>C (p.Lys264Gln)
n.961A>C
15g.43252835C>ACA490131472TGM5c.786G>T (p.Leu262=)
n.255G>T
c.540G>T (p.Leu180=)
c.783G>T (p.Leu261=)
c.537G>T (p.Leu179=)
c.789G>T (p.Leu263=)
n.960G>T
15g.43252835C>GCA490131471TGM5c.786G>C (p.Leu262=)
n.255G>C
c.540G>C (p.Leu180=)
c.783G>C (p.Leu261=)
c.537G>C (p.Leu179=)
c.789G>C (p.Leu263=)
n.960G>C
15g.43252835C>TCA490131470TGM5c.786G>A (p.Leu262=)
n.255G>A
c.540G>A (p.Leu180=)
c.783G>A (p.Leu261=)
c.537G>A (p.Leu179=)
c.789G>A (p.Leu263=)
n.960G>A
15g.43252836A>CCA392099232TGM5c.785T>G (p.Leu262Arg)
n.254T>G
c.539T>G (p.Leu180Arg)
c.782T>G (p.Leu261Arg)
c.536T>G (p.Leu179Arg)
c.788T>G (p.Leu263Arg)
n.959T>G
15g.43252836A>GCA392099235TGM5c.785T>C (p.Leu262Pro)
n.254T>C
c.539T>C (p.Leu180Pro)
c.782T>C (p.Leu261Pro)
c.536T>C (p.Leu179Pro)
c.788T>C (p.Leu263Pro)
n.959T>C
15g.43252836A>TCA392099238TGM5c.785T>A (p.Leu262Gln)
n.254T>A
c.539T>A (p.Leu180Gln)
c.782T>A (p.Leu261Gln)
c.536T>A (p.Leu179Gln)
c.788T>A (p.Leu263Gln)
n.959T>A
15g.43252837G>ACA490131473TGM5c.784C>T (p.Leu262=)
n.253C>T
c.538C>T (p.Leu180=)
c.781C>T (p.Leu261=)
c.535C>T (p.Leu179=)
c.787C>T (p.Leu263=)
n.958C>T
15g.43252837G>CCA392099245TGM5c.784C>G (p.Leu262Val)
n.253C>G
c.538C>G (p.Leu180Val)
c.781C>G (p.Leu261Val)
c.535C>G (p.Leu179Val)
c.787C>G (p.Leu263Val)
n.958C>G
15g.43252837G>TCA392099247TGM5c.784C>A (p.Leu262Met)
n.253C>A
c.538C>A (p.Leu180Met)
c.781C>A (p.Leu261Met)
c.535C>A (p.Leu179Met)
c.787C>A (p.Leu263Met)
n.958C>A
gnomAD v4
15g.43252838G>ACA490131474TGM5c.783C>T (p.Ile261=)
n.252C>T
c.537C>T (p.Ile179=)
c.780C>T (p.Ile260=)
c.534C>T (p.Ile178=)
c.786C>T (p.Ile262=)
n.957C>T
15g.43252838G>CCA392099252TGM5c.783C>G (p.Ile261Met)
n.252C>G
c.537C>G (p.Ile179Met)
c.780C>G (p.Ile260Met)
c.534C>G (p.Ile178Met)
c.786C>G (p.Ile262Met)
n.957C>G
15g.43252838G=CA2173102638TGM5c.783C= (p.Ile261=)
n.252C=
c.537C= (p.Ile179=)
c.780C= (p.Ile260=)
c.534C= (p.Ile178=)
c.786C= (p.Ile262=)
n.957C=
15g.43252838G>TCA490131475TGM5c.783C>A (p.Ile261=)
n.252C>A
c.537C>A (p.Ile179=)
c.780C>A (p.Ile260=)
c.534C>A (p.Ile178=)
c.786C>A (p.Ile262=)
n.957C>A
dbSNP gnomAD v3 gnomAD v4
15g.43252839A>CCA392099255TGM5c.782T>G (p.Ile261Ser)
n.251T>G
c.536T>G (p.Ile179Ser)
c.779T>G (p.Ile260Ser)
c.533T>G (p.Ile178Ser)
c.785T>G (p.Ile262Ser)
n.956T>G
15g.43252839A>GCA392099257TGM5c.782T>C (p.Ile261Thr)
n.251T>C
c.536T>C (p.Ile179Thr)
c.779T>C (p.Ile260Thr)
c.533T>C (p.Ile178Thr)
c.785T>C (p.Ile262Thr)
n.956T>C
gnomAD v4
15g.43252839A>TCA392099260TGM5c.782T>A (p.Ile261Asn)
n.251T>A
c.536T>A (p.Ile179Asn)
c.779T>A (p.Ile260Asn)
c.533T>A (p.Ile178Asn)
c.785T>A (p.Ile262Asn)
n.956T>A
15g.43252840T>ACA392099264TGM5c.781A>T (p.Ile261Phe)
n.250A>T
c.535A>T (p.Ile179Phe)
c.778A>T (p.Ile260Phe)
c.532A>T (p.Ile178Phe)
c.784A>T (p.Ile262Phe)
n.955A>T
15g.43252840T>CCA392099268TGM5c.781A>G (p.Ile261Val)
n.250A>G
c.535A>G (p.Ile179Val)
c.778A>G (p.Ile260Val)
c.532A>G (p.Ile178Val)
c.784A>G (p.Ile262Val)
n.955A>G
dbSNP gnomAD v3 gnomAD v4
15g.43252840T>GCA392099271TGM5c.781A>C (p.Ile261Leu)
n.250A>C
c.535A>C (p.Ile179Leu)
c.778A>C (p.Ile260Leu)
c.532A>C (p.Ile178Leu)
c.784A>C (p.Ile262Leu)
n.955A>C
15g.43252840T=CA2173102639TGM5c.781A= (p.Ile261=)
n.250A=
c.535A= (p.Ile179=)
c.778A= (p.Ile260=)
c.532A= (p.Ile178=)
c.784A= (p.Ile262=)
n.955A=
15g.43252841G>ACA490131476TGM5c.780C>T (p.Ala260=)
n.249C>T
c.534C>T (p.Ala178=)
c.777C>T (p.Ala259=)
c.531C>T (p.Ala177=)
c.783C>T (p.Ala261=)
n.954C>T
gnomAD v4
15g.43252841G>CCA490131478TGM5c.780C>G (p.Ala260=)
n.249C>G
c.534C>G (p.Ala178=)
c.777C>G (p.Ala259=)
c.531C>G (p.Ala177=)
c.783C>G (p.Ala261=)
n.954C>G
15g.43252841G>TCA490131477TGM5c.780C>A (p.Ala260=)
n.249C>A
c.534C>A (p.Ala178=)
c.777C>A (p.Ala259=)
c.531C>A (p.Ala177=)
c.783C>A (p.Ala261=)
n.954C>A
15g.43252842G>ACA392099275TGM5c.779C>T (p.Ala260Val)
n.248C>T
c.533C>T (p.Ala178Val)
c.776C>T (p.Ala259Val)
c.530C>T (p.Ala177Val)
c.782C>T (p.Ala261Val)
n.953C>T
gnomAD v4
15g.43252842G>CCA392099278TGM5c.779C>G (p.Ala260Gly)
n.248C>G
c.533C>G (p.Ala178Gly)
c.776C>G (p.Ala259Gly)
c.530C>G (p.Ala177Gly)
c.782C>G (p.Ala261Gly)
n.953C>G
15g.43252842G=CA2173102640TGM5c.779C= (p.Ala260=)
n.248C=
c.533C= (p.Ala178=)
c.776C= (p.Ala259=)
c.530C= (p.Ala177=)
c.782C= (p.Ala261=)
n.953C=
15g.43252842G>TCA7521208TGM5c.779C>A (p.Ala260Asp)
n.248C>A
c.533C>A (p.Ala178Asp)
c.776C>A (p.Ala259Asp)
c.530C>A (p.Ala177Asp)
c.782C>A (p.Ala261Asp)
n.953C>A
dbSNP ExAC gnomAD v4
15g.43252842_43252843delinsGCCA2173102641TGM5c.778_779delinsGC (p.Ala260=)
n.247_248delinsGC
c.532_533delinsGC (p.Ala178=)
c.775_776delinsGC (p.Ala259=)
c.529_530delinsGC (p.Ala177=)
c.781_782delinsGC (p.Ala261=)
n.952_953delinsGC
15g.43252843C>ACA392099283TGM5c.778G>T (p.Ala260Ser)
n.247G>T
c.532G>T (p.Ala178Ser)
c.775G>T (p.Ala259Ser)
c.529G>T (p.Ala177Ser)
c.781G>T (p.Ala261Ser)
n.952G>T
15g.43252843C>GCA392099286TGM5c.778G>C (p.Ala260Pro)
n.247G>C
c.532G>C (p.Ala178Pro)
c.775G>C (p.Ala259Pro)
c.529G>C (p.Ala177Pro)
c.781G>C (p.Ala261Pro)
n.952G>C
15g.43252843C>TCA392099289TGM5c.778G>A (p.Ala260Thr)
n.247G>A
c.532G>A (p.Ala178Thr)
c.775G>A (p.Ala259Thr)
c.529G>A (p.Ala177Thr)
c.781G>A (p.Ala261Thr)
n.952G>A
15g.43252844delCA2173102642TGM5c.778del (p.Ala260ProfsTer3)
n.247del
c.532del (p.Ala178ProfsTer3)
c.775del (p.Ala259ProfsTer3)
c.529del (p.Ala177ProfsTer3)
c.781del (p.Ala261ProfsTer3)
n.952del
dbSNP
15g.43252844C>ACA490131479TGM5c.777G>T (p.Val259=)
n.246G>T
c.531G>T (p.Val177=)
c.774G>T (p.Val258=)
c.528G>T (p.Val176=)
c.780G>T (p.Val260=)
n.951G>T
15g.43252844C>GCA490131480TGM5c.777G>C (p.Val259=)
n.246G>C
c.531G>C (p.Val177=)
c.774G>C (p.Val258=)
c.528G>C (p.Val176=)
c.780G>C (p.Val260=)
n.951G>C
15g.43252844C>TCA490131481TGM5c.777G>A (p.Val259=)
n.246G>A
c.531G>A (p.Val177=)
c.774G>A (p.Val258=)
c.528G>A (p.Val176=)
c.780G>A (p.Val260=)
n.951G>A
15g.43252845A=CA2173102643TGM5c.776T= (p.Val259=)
n.245T=
c.530T= (p.Val177=)
c.773T= (p.Val258=)
c.527T= (p.Val176=)
c.779T= (p.Val260=)
n.950T=
15g.43252845A>CCA392099298TGM5c.776T>G (p.Val259Gly)
n.245T>G
c.530T>G (p.Val177Gly)
c.773T>G (p.Val258Gly)
c.527T>G (p.Val176Gly)
c.779T>G (p.Val260Gly)
n.950T>G
15g.43252845A>GCA269975292TGM5c.776T>C (p.Val259Ala)
n.245T>C
c.530T>C (p.Val177Ala)
c.773T>C (p.Val258Ala)
c.527T>C (p.Val176Ala)
c.779T>C (p.Val260Ala)
n.950T>C
dbSNP gnomAD v2 gnomAD v4
15g.43252845A>TCA392099293TGM5c.776T>A (p.Val259Glu)
n.245T>A
c.530T>A (p.Val177Glu)
c.773T>A (p.Val258Glu)
c.527T>A (p.Val176Glu)
c.779T>A (p.Val260Glu)
n.950T>A
15g.43252846C>ACA392099309TGM5c.775G>T (p.Val259Leu)
n.244G>T
c.529G>T (p.Val177Leu)
c.772G>T (p.Val258Leu)
c.526G>T (p.Val176Leu)
c.778G>T (p.Val260Leu)
n.949G>T
15g.43252846C=CA2173102644TGM5c.775G= (p.Val259=)
n.244G=
c.529G= (p.Val177=)
c.772G= (p.Val258=)
c.526G= (p.Val176=)
c.778G= (p.Val260=)
n.949G=
15g.43252846C>GCA392099303TGM5c.775G>C (p.Val259Leu)
n.244G>C
c.529G>C (p.Val177Leu)
c.772G>C (p.Val258Leu)
c.526G>C (p.Val176Leu)
c.778G>C (p.Val260Leu)
n.949G>C
COSMIC
15g.43252846C>TCA7521209TGM5c.775G>A (p.Val259Met)
n.244G>A
c.529G>A (p.Val177Met)
c.772G>A (p.Val258Met)
c.526G>A (p.Val176Met)
c.778G>A (p.Val260Met)
n.949G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252847G>ACA7521210TGM5c.774C>T (p.Ser258=)
n.243C>T
c.528C>T (p.Ser176=)
c.771C>T (p.Ser257=)
c.525C>T (p.Ser175=)
c.777C>T (p.Ser259=)
n.948C>T
dbSNP ExAC gnomAD v2 gnomAD v4
15g.43252847G>CCA392099314TGM5c.774C>G (p.Ser258Arg)
n.243C>G
c.528C>G (p.Ser176Arg)
c.771C>G (p.Ser257Arg)
c.525C>G (p.Ser175Arg)
c.777C>G (p.Ser259Arg)
n.948C>G
ClinVar
15g.43252847G=CA2173102645TGM5c.774C= (p.Ser258=)
n.243C=
c.528C= (p.Ser176=)
c.771C= (p.Ser257=)
c.525C= (p.Ser175=)
c.777C= (p.Ser259=)
n.948C=
15g.43252847G>TCA392099317TGM5c.774C>A (p.Ser258Arg)
n.243C>A
c.528C>A (p.Ser176Arg)
c.771C>A (p.Ser257Arg)
c.525C>A (p.Ser175Arg)
c.777C>A (p.Ser259Arg)
n.948C>A
15g.43252848delCA2695220044TGM5c.773del (p.Ser258ThrfsTer5)
n.242del
c.527del (p.Ser176ThrfsTer5)
c.770del (p.Ser257ThrfsTer5)
c.524del (p.Ser175ThrfsTer5)
c.776del (p.Ser259ThrfsTer5)
n.947del
15g.43252848C>ACA392099328TGM5c.773G>T (p.Ser258Ile)
n.242G>T
c.527G>T (p.Ser176Ile)
c.770G>T (p.Ser257Ile)
c.524G>T (p.Ser175Ile)
c.776G>T (p.Ser259Ile)
n.947G>T
15g.43252848C>GCA392099325TGM5c.773G>C (p.Ser258Thr)
n.242G>C
c.527G>C (p.Ser176Thr)
c.770G>C (p.Ser257Thr)
c.524G>C (p.Ser175Thr)
c.776G>C (p.Ser259Thr)
n.947G>C
15g.43252848C>TCA392099322TGM5c.773G>A (p.Ser258Asn)
n.242G>A
c.527G>A (p.Ser176Asn)
c.770G>A (p.Ser257Asn)
c.524G>A (p.Ser175Asn)
c.776G>A (p.Ser259Asn)
n.947G>A
15g.43252849T>ACA392099333TGM5c.772A>T (p.Ser258Cys)
n.241A>T
c.526A>T (p.Ser176Cys)
c.769A>T (p.Ser257Cys)
c.523A>T (p.Ser175Cys)
c.775A>T (p.Ser259Cys)
n.946A>T
15g.43252849T>CCA392099335TGM5c.772A>G (p.Ser258Gly)
n.241A>G
c.526A>G (p.Ser176Gly)
c.769A>G (p.Ser257Gly)
c.523A>G (p.Ser175Gly)
c.775A>G (p.Ser259Gly)
n.946A>G
15g.43252849T>GCA392099338TGM5c.772A>C (p.Ser258Arg)
n.241A>C
c.526A>C (p.Ser176Arg)
c.769A>C (p.Ser257Arg)
c.523A>C (p.Ser175Arg)
c.775A>C (p.Ser259Arg)
n.946A>C
15g.43252850G>ACA490131482TGM5c.771C>T (p.Gly257=)
n.240C>T
c.525C>T (p.Gly175=)
c.768C>T (p.Gly256=)
c.522C>T (p.Gly174=)
c.774C>T (p.Gly258=)
n.945C>T
15g.43252850G>CCA490131483TGM5c.771C>G (p.Gly257=)
n.240C>G
c.525C>G (p.Gly175=)
c.768C>G (p.Gly256=)
c.522C>G (p.Gly174=)
c.774C>G (p.Gly258=)
n.945C>G
15g.43252850G>TCA490131484TGM5c.771C>A (p.Gly257=)
n.240C>A
c.525C>A (p.Gly175=)
c.768C>A (p.Gly256=)
c.522C>A (p.Gly174=)
c.774C>A (p.Gly258=)
n.945C>A
15g.43252850_43252851delinsGCCA2173102646TGM5c.770_771delinsGC (p.Gly257=)
n.239_240delinsGC
c.524_525delinsGC (p.Gly175=)
c.767_768delinsGC (p.Gly256=)
c.521_522delinsGC (p.Gly174=)
c.773_774delinsGC (p.Gly258=)
n.944_945delinsGC
15g.43252851C>ACA392099342TGM5c.770G>T (p.Gly257Val)
n.239G>T
c.524G>T (p.Gly175Val)
c.767G>T (p.Gly256Val)
c.521G>T (p.Gly174Val)
c.773G>T (p.Gly258Val)
n.944G>T
15g.43252851C>GCA392099346TGM5c.770G>C (p.Gly257Ala)
n.239G>C
c.524G>C (p.Gly175Ala)
c.767G>C (p.Gly256Ala)
c.521G>C (p.Gly174Ala)
c.773G>C (p.Gly258Ala)
n.944G>C
15g.43252851C>TCA392099349TGM5c.770G>A (p.Gly257Asp)
n.239G>A
c.524G>A (p.Gly175Asp)
c.767G>A (p.Gly256Asp)
c.521G>A (p.Gly174Asp)
c.773G>A (p.Gly258Asp)
n.944G>A
15g.43252853delCA2173102647TGM5c.770del (p.Gly257AlafsTer6)
n.239del
c.524del (p.Gly175AlafsTer6)
c.767del (p.Gly256AlafsTer6)
c.521del (p.Gly174AlafsTer6)
c.773del (p.Gly258AlafsTer6)
n.944del
dbSNP gnomAD v4
15g.43252852C>ACA392099360TGM5c.769G>T (p.Gly257Cys)
n.238G>T
c.523G>T (p.Gly175Cys)
c.766G>T (p.Gly256Cys)
c.520G>T (p.Gly174Cys)
c.772G>T (p.Gly258Cys)
n.943G>T
15g.43252852C>GCA392099354TGM5c.769G>C (p.Gly257Arg)
n.238G>C
c.523G>C (p.Gly175Arg)
c.766G>C (p.Gly256Arg)
c.520G>C (p.Gly174Arg)
c.772G>C (p.Gly258Arg)
n.943G>C
15g.43252852C>TCA392099357TGM5c.769G>A (p.Gly257Ser)
n.238G>A
c.523G>A (p.Gly175Ser)
c.766G>A (p.Gly256Ser)
c.520G>A (p.Gly174Ser)
c.772G>A (p.Gly258Ser)
n.943G>A
gnomAD v4
15g.43252853C>ACA490131485TGM5c.768G>T (p.Thr256=)
n.237G>T
c.522G>T (p.Thr174=)
c.765G>T (p.Thr255=)
c.519G>T (p.Thr173=)
c.771G>T (p.Thr257=)
n.942G>T
15g.43252853C=CA2173102648TGM5c.768G= (p.Thr256=)
n.237G=
c.522G= (p.Thr174=)
c.765G= (p.Thr255=)
c.519G= (p.Thr173=)
c.771G= (p.Thr257=)
n.942G=
15g.43252853C>GCA490131486TGM5c.768G>C (p.Thr256=)
n.237G>C
c.522G>C (p.Thr174=)
c.765G>C (p.Thr255=)
c.519G>C (p.Thr173=)
c.771G>C (p.Thr257=)
n.942G>C
15g.43252853C>TCA7521211TGM5c.768G>A (p.Thr256=)
n.237G>A
c.522G>A (p.Thr174=)
c.765G>A (p.Thr255=)
c.519G>A (p.Thr173=)
c.771G>A (p.Thr257=)
n.942G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252854G>ACA7521212TGM5c.767C>T (p.Thr256Met)
n.236C>T
c.521C>T (p.Thr174Met)
c.764C>T (p.Thr255Met)
c.518C>T (p.Thr173Met)
c.770C>T (p.Thr257Met)
n.941C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.43252854G>CCA392099368TGM5c.767C>G (p.Thr256Arg)
n.236C>G
c.521C>G (p.Thr174Arg)
c.764C>G (p.Thr255Arg)
c.518C>G (p.Thr173Arg)
c.770C>G (p.Thr257Arg)
n.941C>G
15g.43252854G=CA2173102649TGM5c.767C= (p.Thr256=)
n.236C=
c.521C= (p.Thr174=)
c.764C= (p.Thr255=)
c.518C= (p.Thr173=)
c.770C= (p.Thr257=)
n.941C=
15g.43252854G>TCA392099371TGM5c.767C>A (p.Thr256Lys)
n.236C>A
c.521C>A (p.Thr174Lys)
c.764C>A (p.Thr255Lys)
c.518C>A (p.Thr173Lys)
c.770C>A (p.Thr257Lys)
n.941C>A
dbSNP gnomAD v2 gnomAD v4
15g.43252855T>ACA392099375TGM5c.766A>T (p.Thr256Ser)
n.235A>T
c.520A>T (p.Thr174Ser)
c.763A>T (p.Thr255Ser)
c.517A>T (p.Thr173Ser)
c.769A>T (p.Thr257Ser)
n.940A>T
15g.43252855T>CCA7521213TGM5c.766A>G (p.Thr256Ala)
n.235A>G
c.520A>G (p.Thr174Ala)
c.763A>G (p.Thr255Ala)
c.517A>G (p.Thr173Ala)
c.769A>G (p.Thr257Ala)
n.940A>G
dbSNP ExAC gnomAD v2 gnomAD v4
15g.43252855T>GCA392099379TGM5c.766A>C (p.Thr256Pro)
n.235A>C
c.520A>C (p.Thr174Pro)
c.763A>C (p.Thr255Pro)
c.517A>C (p.Thr173Pro)
c.769A>C (p.Thr257Pro)
n.940A>C
15g.43252855T=CA2173102650TGM5c.766A= (p.Thr256=)
n.235A=
c.520A= (p.Thr174=)
c.763A= (p.Thr255=)
c.517A= (p.Thr173=)
c.769A= (p.Thr257=)
n.940A=
15g.43252856C>ACA392099382TGM5c.765G>T (p.Trp255Cys)
n.234G>T
c.519G>T (p.Trp173Cys)
c.762G>T (p.Trp254Cys)
c.516G>T (p.Trp172Cys)
c.768G>T (p.Trp256Cys)
n.939G>T
15g.43252856C>GCA392099386TGM5c.765G>C (p.Trp255Cys)
n.234G>C
c.519G>C (p.Trp173Cys)
c.762G>C (p.Trp254Cys)
c.516G>C (p.Trp172Cys)
c.768G>C (p.Trp256Cys)
n.939G>C
gnomAD v4
15g.43252856C>TCA392099389TGM5c.765G>A (p.Trp255Ter)
n.234G>A
c.519G>A (p.Trp173Ter)
c.762G>A (p.Trp254Ter)
c.516G>A (p.Trp172Ter)
c.768G>A (p.Trp256Ter)
n.939G>A
15g.43252857C>ACA392099394TGM5c.764G>T (p.Trp255Leu)
n.233G>T
c.518G>T (p.Trp173Leu)
c.761G>T (p.Trp254Leu)
c.515G>T (p.Trp172Leu)
c.767G>T (p.Trp256Leu)
n.938G>T
15g.43252857C=CA2173102651TGM5c.764G= (p.Trp255=)
n.233G=
c.518G= (p.Trp173=)
c.761G= (p.Trp254=)
c.515G= (p.Trp172=)
c.767G= (p.Trp256=)
n.938G=
15g.43252857C>GCA392099397TGM5c.764G>C (p.Trp255Ser)
n.233G>C
c.518G>C (p.Trp173Ser)
c.761G>C (p.Trp254Ser)
c.515G>C (p.Trp172Ser)
c.767G>C (p.Trp256Ser)
n.938G>C
15g.43252857C>TCA7521214TGM5c.764G>A (p.Trp255Ter)
n.233G>A
c.518G>A (p.Trp173Ter)
c.761G>A (p.Trp254Ter)
c.515G>A (p.Trp172Ter)
c.767G>A (p.Trp256Ter)
n.938G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252858A=CA2173102652TGM5c.763T= (p.Trp255=)
n.232T=
c.517T= (p.Trp173=)
c.760T= (p.Trp254=)
c.514T= (p.Trp172=)
c.766T= (p.Trp256=)
n.937T=
15g.43252858A>CCA392099409TGM5c.763T>G (p.Trp255Gly)
n.232T>G
c.517T>G (p.Trp173Gly)
c.760T>G (p.Trp254Gly)
c.514T>G (p.Trp172Gly)
c.766T>G (p.Trp256Gly)
n.937T>G
15g.43252858A>GCA170978TGM5c.763T>C (p.Trp255Arg)
n.232T>C
c.517T>C (p.Trp173Arg)
c.760T>C (p.Trp254Arg)
c.514T>C (p.Trp172Arg)
c.766T>C (p.Trp256Arg)
n.937T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252858A>TCA392099406TGM5c.763T>A (p.Trp255Arg)
n.232T>A
c.517T>A (p.Trp173Arg)
c.760T>A (p.Trp254Arg)
c.514T>A (p.Trp172Arg)
c.766T>A (p.Trp256Arg)
n.937T>A
15g.43252859C>ACA392099413TGM5c.762G>T (p.Glu254Asp)
n.231G>T
c.516G>T (p.Glu172Asp)
c.759G>T (p.Glu253Asp)
c.513G>T (p.Glu171Asp)
c.765G>T (p.Glu255Asp)
n.936G>T
15g.43252859C=CA2173102653TGM5c.762G= (p.Glu254=)
n.231G=
c.516G= (p.Glu172=)
c.759G= (p.Glu253=)
c.513G= (p.Glu171=)
c.765G= (p.Glu255=)
n.936G=
15g.43252859C>GCA392099415TGM5c.762G>C (p.Glu254Asp)
n.231G>C
c.516G>C (p.Glu172Asp)
c.759G>C (p.Glu253Asp)
c.513G>C (p.Glu171Asp)
c.765G>C (p.Glu255Asp)
n.936G>C
15g.43252859C>TCA7521215TGM5c.762G>A (p.Glu254=)
n.231G>A
c.516G>A (p.Glu172=)
c.759G>A (p.Glu253=)
c.513G>A (p.Glu171=)
c.765G>A (p.Glu255=)
n.936G>A
dbSNP ExAC gnomAD v2 gnomAD v4
15g.43252860T>ACA392099421TGM5c.761A>T (p.Glu254Val)
n.230A>T
c.515A>T (p.Glu172Val)
c.758A>T (p.Glu253Val)
c.512A>T (p.Glu171Val)
c.764A>T (p.Glu255Val)
n.935A>T
15g.43252860T>CCA392099424TGM5c.761A>G (p.Glu254Gly)
n.230A>G
c.515A>G (p.Glu172Gly)
c.758A>G (p.Glu253Gly)
c.512A>G (p.Glu171Gly)
c.764A>G (p.Glu255Gly)
n.935A>G
15g.43252860T>GCA392099427TGM5c.761A>C (p.Glu254Ala)
n.230A>C
c.515A>C (p.Glu172Ala)
c.758A>C (p.Glu253Ala)
c.512A>C (p.Glu171Ala)
c.764A>C (p.Glu255Ala)
n.935A>C
15g.43252861C>ACA392099432TGM5c.760G>T (p.Glu254Ter)
n.229G>T
c.514G>T (p.Glu172Ter)
c.757G>T (p.Glu253Ter)
c.511G>T (p.Glu171Ter)
c.763G>T (p.Glu255Ter)
n.934G>T
15g.43252861C=CA2173102654TGM5c.760G= (p.Glu254=)
n.229G=
c.514G= (p.Glu172=)
c.757G= (p.Glu253=)
c.511G= (p.Glu171=)
c.763G= (p.Glu255=)
n.934G=
15g.43252861C>GCA392099434TGM5c.760G>C (p.Glu254Gln)
n.229G>C
c.514G>C (p.Glu172Gln)
c.757G>C (p.Glu253Gln)
c.511G>C (p.Glu171Gln)
c.763G>C (p.Glu255Gln)
n.934G>C
15g.43252861C>TCA269975339TGM5c.760G>A (p.Glu254Lys)
n.229G>A
c.514G>A (p.Glu172Lys)
c.757G>A (p.Glu253Lys)
c.511G>A (p.Glu171Lys)
c.763G>A (p.Glu255Lys)
n.934G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.43252862C>ACA490131488TGM5c.759G>T (p.Ala253=)
n.228G>T
c.513G>T (p.Ala171=)
c.756G>T (p.Ala252=)
c.510G>T (p.Ala170=)
c.762G>T (p.Ala254=)
n.933G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.43252862C=CA2173102655TGM5c.759G= (p.Ala253=)
n.228G=
c.513G= (p.Ala171=)
c.756G= (p.Ala252=)
c.510G= (p.Ala170=)
c.762G= (p.Ala254=)
n.933G=
15g.43252862C>GCA490131490TGM5c.759G>C (p.Ala253=)
n.228G>C
c.513G>C (p.Ala171=)
c.756G>C (p.Ala252=)
c.510G>C (p.Ala170=)
c.762G>C (p.Ala254=)
n.933G>C
15g.43252862C>TCA7521216TGM5c.759G>A (p.Ala253=)
n.228G>A
c.513G>A (p.Ala171=)
c.756G>A (p.Ala252=)
c.510G>A (p.Ala170=)
c.762G>A (p.Ala254=)
n.933G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252863G>ACA7521217TGM5c.758C>T (p.Ala253Val)
n.227C>T
c.512C>T (p.Ala171Val)
c.755C>T (p.Ala252Val)
c.509C>T (p.Ala170Val)
c.761C>T (p.Ala254Val)
n.932C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252863G>CCA392099445TGM5c.758C>G (p.Ala253Gly)
n.227C>G
c.512C>G (p.Ala171Gly)
c.755C>G (p.Ala252Gly)
c.509C>G (p.Ala170Gly)
c.761C>G (p.Ala254Gly)
n.932C>G
15g.43252863G=CA2173102656TGM5c.758C= (p.Ala253=)
n.227C=
c.512C= (p.Ala171=)
c.755C= (p.Ala252=)
c.509C= (p.Ala170=)
c.761C= (p.Ala254=)
n.932C=
15g.43252863G>TCA7521218TGM5c.758C>A (p.Ala253Glu)
n.227C>A
c.512C>A (p.Ala171Glu)
c.755C>A (p.Ala252Glu)
c.509C>A (p.Ala170Glu)
c.761C>A (p.Ala254Glu)
n.932C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252864C>ACA392099458TGM5c.757G>T (p.Ala253Ser)
n.226G>T
c.511G>T (p.Ala171Ser)
c.754G>T (p.Ala252Ser)
c.508G>T (p.Ala170Ser)
c.760G>T (p.Ala254Ser)
n.931G>T
15g.43252864C>GCA392099455TGM5c.757G>C (p.Ala253Pro)
n.226G>C
c.511G>C (p.Ala171Pro)
c.754G>C (p.Ala252Pro)
c.508G>C (p.Ala170Pro)
c.760G>C (p.Ala254Pro)
n.931G>C
15g.43252864C>TCA392099453TGM5c.757G>A (p.Ala253Thr)
n.226G>A
c.511G>A (p.Ala171Thr)
c.754G>A (p.Ala252Thr)
c.508G>A (p.Ala170Thr)
c.760G>A (p.Ala254Thr)
n.931G>A
15g.43252865A>CCA490131494TGM5c.756T>G (p.Pro252=)
n.225T>G
c.510T>G (p.Pro170=)
c.753T>G (p.Pro251=)
c.507T>G (p.Pro169=)
c.759T>G (p.Pro253=)
n.930T>G
15g.43252865A>GCA490131495TGM5c.756T>C (p.Pro252=)
n.225T>C
c.510T>C (p.Pro170=)
c.753T>C (p.Pro251=)
c.507T>C (p.Pro169=)
c.759T>C (p.Pro253=)
n.930T>C
15g.43252865A>TCA490131496TGM5c.756T>A (p.Pro252=)
n.225T>A
c.510T>A (p.Pro170=)
c.753T>A (p.Pro251=)
c.507T>A (p.Pro169=)
c.759T>A (p.Pro253=)
n.930T>A
15g.43252865_43252866delinsAGCA2173102657TGM5c.755_756delinsCT (p.Pro252=)
n.224_225delinsCT
c.509_510delinsCT (p.Pro170=)
c.752_753delinsCT (p.Pro251=)
c.506_507delinsCT (p.Pro169=)
c.758_759delinsCT (p.Pro253=)
n.929_930delinsCT
15g.43252866G>ACA392099462TGM5c.755C>T (p.Pro252Leu)
n.224C>T
c.509C>T (p.Pro170Leu)
c.752C>T (p.Pro251Leu)
c.506C>T (p.Pro169Leu)
c.758C>T (p.Pro253Leu)
n.929C>T
15g.43252866G>CCA392099465TGM5c.755C>G (p.Pro252Arg)
n.224C>G
c.509C>G (p.Pro170Arg)
c.752C>G (p.Pro251Arg)
c.506C>G (p.Pro169Arg)
c.758C>G (p.Pro253Arg)
n.929C>G
15g.43252866G>TCA392099467TGM5c.755C>A (p.Pro252His)
n.224C>A
c.509C>A (p.Pro170His)
c.752C>A (p.Pro251His)
c.506C>A (p.Pro169His)
c.758C>A (p.Pro253His)
n.929C>A
15g.43252868delCA618003368TGM5c.755del (p.Pro252LeufsTer11)
n.224del
c.509del (p.Pro170LeufsTer11)
c.752del (p.Pro251LeufsTer11)
c.506del (p.Pro169LeufsTer11)
c.758del (p.Pro253LeufsTer11)
n.929del
dbSNP gnomAD v2
15g.43252867G>ACA7521219TGM5c.754C>T (p.Pro252Ser)
n.223C>T
c.508C>T (p.Pro170Ser)
c.751C>T (p.Pro251Ser)
c.505C>T (p.Pro169Ser)
c.757C>T (p.Pro253Ser)
n.928C>T
dbSNP ExAC gnomAD v2 gnomAD v4
15g.43252867G>CCA392099472TGM5c.754C>G (p.Pro252Ala)
n.223C>G
c.508C>G (p.Pro170Ala)
c.751C>G (p.Pro251Ala)
c.505C>G (p.Pro169Ala)
c.757C>G (p.Pro253Ala)
n.928C>G
15g.43252867G=CA2173102658TGM5c.754C= (p.Pro252=)
n.223C=
c.508C= (p.Pro170=)
c.751C= (p.Pro251=)
c.505C= (p.Pro169=)
c.757C= (p.Pro253=)
n.928C=
15g.43252867G>TCA392099475TGM5c.754C>A (p.Pro252Thr)
n.223C>A
c.508C>A (p.Pro170Thr)
c.751C>A (p.Pro251Thr)
c.505C>A (p.Pro169Thr)
c.757C>A (p.Pro253Thr)
n.928C>A
15g.43252868G>ACA7521220TGM5c.753C>T (p.Asn251=)
n.222C>T
c.507C>T (p.Asn169=)
c.750C>T (p.Asn250=)
c.504C>T (p.Asn168=)
c.756C>T (p.Asn252=)
n.927C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252868G>CCA392099483TGM5c.753C>G (p.Asn251Lys)
n.222C>G
c.507C>G (p.Asn169Lys)
c.750C>G (p.Asn250Lys)
c.504C>G (p.Asn168Lys)
c.756C>G (p.Asn252Lys)
n.927C>G
15g.43252868G=CA2173102659TGM5c.753C= (p.Asn251=)
n.222C=
c.507C= (p.Asn169=)
c.750C= (p.Asn250=)
c.504C= (p.Asn168=)
c.756C= (p.Asn252=)
n.927C=
15g.43252868G>TCA392099485TGM5c.753C>A (p.Asn251Lys)
n.222C>A
c.507C>A (p.Asn169Lys)
c.750C>A (p.Asn250Lys)
c.504C>A (p.Asn168Lys)
c.756C>A (p.Asn252Lys)
n.927C>A
15g.43252868_43252869delinsGTCA2173102660TGM5c.752_753delinsAC (p.Asn251=)
n.221_222delinsAC
c.506_507delinsAC (p.Asn169=)
c.749_750delinsAC (p.Asn250=)
c.503_504delinsAC (p.Asn168=)
c.755_756delinsAC (p.Asn252=)
n.926_927delinsAC
15g.43252869T>ACA392099492TGM5c.752A>T (p.Asn251Ile)
n.221A>T
c.506A>T (p.Asn169Ile)
c.749A>T (p.Asn250Ile)
c.503A>T (p.Asn168Ile)
c.755A>T (p.Asn252Ile)
n.926A>T
15g.43252869T>CCA392099495TGM5c.752A>G (p.Asn251Ser)
n.221A>G
c.506A>G (p.Asn169Ser)
c.749A>G (p.Asn250Ser)
c.503A>G (p.Asn168Ser)
c.755A>G (p.Asn252Ser)
n.926A>G
15g.43252869T>GCA392099498TGM5c.752A>C (p.Asn251Thr)
n.221A>C
c.506A>C (p.Asn169Thr)
c.749A>C (p.Asn250Thr)
c.503A>C (p.Asn168Thr)
c.755A>C (p.Asn252Thr)
n.926A>C
dbSNP
15g.43252869T=CA2173102661TGM5c.752A= (p.Asn251=)
n.221A=
c.506A= (p.Asn169=)
c.749A= (p.Asn250=)
c.503A= (p.Asn168=)
c.755A= (p.Asn252=)
n.926A=
15g.43252870delCA7521221TGM5c.752del (p.Asn251ThrfsTer12)
n.221del
c.506del (p.Asn169ThrfsTer12)
c.749del (p.Asn250ThrfsTer12)
c.503del (p.Asn168ThrfsTer12)
c.755del (p.Asn252ThrfsTer12)
n.926del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252870T>ACA392099507TGM5c.751A>T (p.Asn251Tyr)
n.220A>T
c.505A>T (p.Asn169Tyr)
c.748A>T (p.Asn250Tyr)
c.502A>T (p.Asn168Tyr)
c.754A>T (p.Asn252Tyr)
n.925A>T
15g.43252870T>CCA392099511TGM5c.751A>G (p.Asn251Asp)
n.220A>G
c.505A>G (p.Asn169Asp)
c.748A>G (p.Asn250Asp)
c.502A>G (p.Asn168Asp)
c.754A>G (p.Asn252Asp)
n.925A>G
15g.43252870T>GCA392099504TGM5c.751A>C (p.Asn251His)
n.220A>C
c.505A>C (p.Asn169His)
c.748A>C (p.Asn250His)
c.502A>C (p.Asn168His)
c.754A>C (p.Asn252His)
n.925A>C
15g.43252871G>ACA490131505TGM5c.750C>T (p.Ala250=)
n.219C>T
c.504C>T (p.Ala168=)
c.747C>T (p.Ala249=)
c.501C>T (p.Ala167=)
c.753C>T (p.Ala251=)
n.924C>T
15g.43252871G>CCA490131506TGM5c.750C>G (p.Ala250=)
n.219C>G
c.504C>G (p.Ala168=)
c.747C>G (p.Ala249=)
c.501C>G (p.Ala167=)
c.753C>G (p.Ala251=)
n.924C>G
15g.43252871G>TCA490131507TGM5c.750C>A (p.Ala250=)
n.219C>A
c.504C>A (p.Ala168=)
c.747C>A (p.Ala249=)
c.501C>A (p.Ala167=)
c.753C>A (p.Ala251=)
n.924C>A
gnomAD v3 gnomAD v4
15g.43252872G>ACA392099516TGM5c.749C>T (p.Ala250Val)
n.218C>T
c.503C>T (p.Ala168Val)
c.746C>T (p.Ala249Val)
c.500C>T (p.Ala167Val)
c.752C>T (p.Ala251Val)
n.923C>T
gnomAD v4
15g.43252872G>CCA392099523TGM5c.749C>G (p.Ala250Gly)
n.218C>G
c.503C>G (p.Ala168Gly)
c.746C>G (p.Ala249Gly)
c.500C>G (p.Ala167Gly)
c.752C>G (p.Ala251Gly)
n.923C>G
15g.43252872G>TCA392099519TGM5c.749C>A (p.Ala250Asp)
n.218C>A
c.503C>A (p.Ala168Asp)
c.746C>A (p.Ala249Asp)
c.500C>A (p.Ala167Asp)
c.752C>A (p.Ala251Asp)
n.923C>A
15g.43252873C>ACA269975389TGM5c.748G>T (p.Ala250Ser)
n.217G>T
c.502G>T (p.Ala168Ser)
c.745G>T (p.Ala249Ser)
c.499G>T (p.Ala167Ser)
c.751G>T (p.Ala251Ser)
n.922G>T
dbSNP gnomAD v3 gnomAD v4
15g.43252873C=CA2173102662TGM5c.748G= (p.Ala250=)
n.217G=
c.502G= (p.Ala168=)
c.745G= (p.Ala249=)
c.499G= (p.Ala167=)
c.751G= (p.Ala251=)
n.922G=
15g.43252873C>GCA392099531TGM5c.748G>C (p.Ala250Pro)
n.217G>C
c.502G>C (p.Ala168Pro)
c.745G>C (p.Ala249Pro)
c.499G>C (p.Ala167Pro)
c.751G>C (p.Ala251Pro)
n.922G>C
15g.43252873C>TCA7521222TGM5c.748G>A (p.Ala250Thr)
n.217G>A
c.502G>A (p.Ala168Thr)
c.745G>A (p.Ala249Thr)
c.499G>A (p.Ala167Thr)
c.751G>A (p.Ala251Thr)
n.922G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252874G>ACA269975392TGM5c.747C>T (p.Gly249=)
n.216C>T
c.501C>T (p.Gly167=)
c.744C>T (p.Gly248=)
c.498C>T (p.Gly166=)
c.750C>T (p.Gly250=)
n.921C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.43252874G>CCA490131511TGM5c.747C>G (p.Gly249=)
n.216C>G
c.501C>G (p.Gly167=)
c.744C>G (p.Gly248=)
c.498C>G (p.Gly166=)
c.750C>G (p.Gly250=)
n.921C>G
dbSNP gnomAD v2 gnomAD v4
15g.43252874G=CA2173102663TGM5c.747C= (p.Gly249=)
n.216C=
c.501C= (p.Gly167=)
c.744C= (p.Gly248=)
c.498C= (p.Gly166=)
c.750C= (p.Gly250=)
n.921C=
15g.43252874G>TCA490131512TGM5c.747C>A (p.Gly249=)
n.216C>A
c.501C>A (p.Gly167=)
c.744C>A (p.Gly248=)
c.498C>A (p.Gly166=)
c.750C>A (p.Gly250=)
n.921C>A
15g.43252875C>ACA392099538TGM5c.746G>T (p.Gly249Val)
n.215G>T
c.500G>T (p.Gly167Val)
c.743G>T (p.Gly248Val)
c.497G>T (p.Gly166Val)
c.749G>T (p.Gly250Val)
n.920G>T
15g.43252875C>GCA392099542TGM5c.746G>C (p.Gly249Ala)
n.215G>C
c.500G>C (p.Gly167Ala)
c.743G>C (p.Gly248Ala)
c.497G>C (p.Gly166Ala)
c.749G>C (p.Gly250Ala)
n.920G>C
15g.43252875C>TCA392099547TGM5c.746G>A (p.Gly249Asp)
n.215G>A
c.500G>A (p.Gly167Asp)
c.743G>A (p.Gly248Asp)
c.497G>A (p.Gly166Asp)
c.749G>A (p.Gly250Asp)
n.920G>A
15g.43252876C>ACA392099550TGM5c.745G>T (p.Gly249Cys)
n.214G>T
c.499G>T (p.Gly167Cys)
c.742G>T (p.Gly248Cys)
c.496G>T (p.Gly166Cys)
c.748G>T (p.Gly250Cys)
n.919G>T
15g.43252876C=CA2173102664TGM5c.745G= (p.Gly249=)
n.214G=
c.499G= (p.Gly167=)
c.742G= (p.Gly248=)
c.496G= (p.Gly166=)
c.748G= (p.Gly250=)
n.919G=
15g.43252876C>GCA269975399TGM5c.745G>C (p.Gly249Arg)
n.214G>C
c.499G>C (p.Gly167Arg)
c.742G>C (p.Gly248Arg)
c.496G>C (p.Gly166Arg)
c.748G>C (p.Gly250Arg)
n.919G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.43252876C>TCA392099555TGM5c.745G>A (p.Gly249Ser)
n.214G>A
c.499G>A (p.Gly167Ser)
c.742G>A (p.Gly248Ser)
c.496G>A (p.Gly166Ser)
c.748G>A (p.Gly250Ser)
n.919G>A
dbSNP gnomAD v3 gnomAD v4
15g.43252877G>ACA7521223TGM5c.744C>T (p.Asp248=)
n.213C>T
c.498C>T (p.Asp166=)
c.741C>T (p.Asp247=)
c.495C>T (p.Asp165=)
c.747C>T (p.Asp249=)
n.918C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252877G>CCA392099560TGM5c.744C>G (p.Asp248Glu)
n.213C>G
c.498C>G (p.Asp166Glu)
c.741C>G (p.Asp247Glu)
c.495C>G (p.Asp165Glu)
c.747C>G (p.Asp249Glu)
n.918C>G
gnomAD v4
15g.43252877G=CA2173102665TGM5c.744C= (p.Asp248=)
n.213C=
c.498C= (p.Asp166=)
c.741C= (p.Asp247=)
c.495C= (p.Asp165=)
c.747C= (p.Asp249=)
n.918C=
15g.43252877G>TCA392099562TGM5c.744C>A (p.Asp248Glu)
n.213C>A
c.498C>A (p.Asp166Glu)
c.741C>A (p.Asp247Glu)
c.495C>A (p.Asp165Glu)
c.747C>A (p.Asp249Glu)
n.918C>A
15g.43252878T>ACA392099571TGM5c.743A>T (p.Asp248Val)
n.212A>T
c.497A>T (p.Asp166Val)
c.740A>T (p.Asp247Val)
c.494A>T (p.Asp165Val)
c.746A>T (p.Asp249Val)
n.917A>T
15g.43252878T>CCA392099566TGM5c.743A>G (p.Asp248Gly)
n.212A>G
c.497A>G (p.Asp166Gly)
c.740A>G (p.Asp247Gly)
c.494A>G (p.Asp165Gly)
c.746A>G (p.Asp249Gly)
n.917A>G
gnomAD v4
15g.43252878T>GCA392099568TGM5c.743A>C (p.Asp248Ala)
n.212A>C
c.497A>C (p.Asp166Ala)
c.740A>C (p.Asp247Ala)
c.494A>C (p.Asp165Ala)
c.746A>C (p.Asp249Ala)
n.917A>C
15g.43252879C>ACA392099576TGM5c.742G>T (p.Asp248Tyr)
n.211G>T
c.496G>T (p.Asp166Tyr)
c.739G>T (p.Asp247Tyr)
c.493G>T (p.Asp165Tyr)
c.745G>T (p.Asp249Tyr)
n.916G>T
15g.43252879C>GCA392099578TGM5c.742G>C (p.Asp248His)
n.211G>C
c.496G>C (p.Asp166His)
c.739G>C (p.Asp247His)
c.493G>C (p.Asp165His)
c.745G>C (p.Asp249His)
n.916G>C
15g.43252879C>TCA392099582TGM5c.742G>A (p.Asp248Asn)
n.211G>A
c.496G>A (p.Asp166Asn)
c.739G>A (p.Asp247Asn)
c.493G>A (p.Asp165Asn)
c.745G>A (p.Asp249Asn)
n.916G>A
15g.43252880T>ACA490131516TGM5c.741A>T (p.Thr247=)
n.210A>T
c.495A>T (p.Thr165=)
c.738A>T (p.Thr246=)
c.492A>T (p.Thr164=)
c.744A>T (p.Thr248=)
n.915A>T
15g.43252880T>CCA490131517TGM5c.741A>G (p.Thr247=)
n.210A>G
c.495A>G (p.Thr165=)
c.738A>G (p.Thr246=)
c.492A>G (p.Thr164=)
c.744A>G (p.Thr248=)
n.915A>G
COSMIC
15g.43252880T>GCA490131518TGM5c.741A>C (p.Thr247=)
n.210A>C
c.495A>C (p.Thr165=)
c.738A>C (p.Thr246=)
c.492A>C (p.Thr164=)
c.744A>C (p.Thr248=)
n.915A>C
15g.43252881G>ACA392099586TGM5c.740C>T (p.Thr247Ile)
n.209C>T
c.494C>T (p.Thr165Ile)
c.737C>T (p.Thr246Ile)
c.491C>T (p.Thr164Ile)
c.743C>T (p.Thr248Ile)
n.914C>T
dbSNP gnomAD v4
15g.43252881G>CCA392099591TGM5c.740C>G (p.Thr247Arg)
n.209C>G
c.494C>G (p.Thr165Arg)
c.737C>G (p.Thr246Arg)
c.491C>G (p.Thr164Arg)
c.743C>G (p.Thr248Arg)
n.914C>G
gnomAD v4
15g.43252881G=CA2173102666TGM5c.740C= (p.Thr247=)
n.209C=
c.494C= (p.Thr165=)
c.737C= (p.Thr246=)
c.491C= (p.Thr164=)
c.743C= (p.Thr248=)
n.914C=
15g.43252881G>TCA392099593TGM5c.740C>A (p.Thr247Lys)
n.209C>A
c.494C>A (p.Thr165Lys)
c.737C>A (p.Thr246Lys)
c.491C>A (p.Thr164Lys)
c.743C>A (p.Thr248Lys)
n.914C>A
15g.43252882T>ACA392099596TGM5c.739A>T (p.Thr247Ser)
n.208A>T
c.493A>T (p.Thr165Ser)
c.736A>T (p.Thr246Ser)
c.490A>T (p.Thr164Ser)
c.742A>T (p.Thr248Ser)
n.913A>T
15g.43252882T>CCA392099600TGM5c.739A>G (p.Thr247Ala)
n.208A>G
c.493A>G (p.Thr165Ala)
c.736A>G (p.Thr246Ala)
c.490A>G (p.Thr164Ala)
c.742A>G (p.Thr248Ala)
n.913A>G
15g.43252882T>GCA392099603TGM5c.739A>C (p.Thr247Pro)
n.208A>C
c.493A>C (p.Thr165Pro)
c.736A>C (p.Thr246Pro)
c.490A>C (p.Thr164Pro)
c.742A>C (p.Thr248Pro)
n.913A>C
15g.43252883G>ACA490131522TGM5c.738C>T (p.Tyr246=)
n.207C>T
c.492C>T (p.Tyr164=)
c.735C>T (p.Tyr245=)
c.489C>T (p.Tyr163=)
c.741C>T (p.Tyr247=)
n.912C>T
15g.43252883G>CCA392099605TGM5c.738C>G (p.Tyr246Ter)
n.207C>G
c.492C>G (p.Tyr164Ter)
c.735C>G (p.Tyr245Ter)
c.489C>G (p.Tyr163Ter)
c.741C>G (p.Tyr247Ter)
n.912C>G
15g.43252883G>TCA392099608TGM5c.738C>A (p.Tyr246Ter)
n.207C>A
c.492C>A (p.Tyr164Ter)
c.735C>A (p.Tyr245Ter)
c.489C>A (p.Tyr163Ter)
c.741C>A (p.Tyr247Ter)
n.912C>A
15g.43252884T>ACA392099619TGM5c.737A>T (p.Tyr246Phe)
n.206A>T
c.491A>T (p.Tyr164Phe)
c.734A>T (p.Tyr245Phe)
c.488A>T (p.Tyr163Phe)
c.740A>T (p.Tyr247Phe)
n.911A>T
15g.43252884T>CCA392099615TGM5c.737A>G (p.Tyr246Cys)
n.206A>G
c.491A>G (p.Tyr164Cys)
c.734A>G (p.Tyr245Cys)
c.488A>G (p.Tyr163Cys)
c.740A>G (p.Tyr247Cys)
n.911A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.43252884T>GCA392099611TGM5c.737A>C (p.Tyr246Ser)
n.206A>C
c.491A>C (p.Tyr164Ser)
c.734A>C (p.Tyr245Ser)
c.488A>C (p.Tyr163Ser)
c.740A>C (p.Tyr247Ser)
n.911A>C
15g.43252884T=CA2173102667TGM5c.737A= (p.Tyr246=)
n.206A=
c.491A= (p.Tyr164=)
c.734A= (p.Tyr245=)
c.488A= (p.Tyr163=)
c.740A= (p.Tyr247=)
n.911A=
15g.43252885A>CCA392099622TGM5c.736T>G (p.Tyr246Asp)
n.205T>G
c.490T>G (p.Tyr164Asp)
c.733T>G (p.Tyr245Asp)
c.487T>G (p.Tyr163Asp)
c.739T>G (p.Tyr247Asp)
n.910T>G
15g.43252885A>GCA392099624TGM5c.736T>C (p.Tyr246His)
n.205T>C
c.490T>C (p.Tyr164His)
c.733T>C (p.Tyr245His)
c.487T>C (p.Tyr163His)
c.739T>C (p.Tyr247His)
n.910T>C
COSMIC
15g.43252885A>TCA392099627TGM5c.736T>A (p.Tyr246Asn)
n.205T>A
c.490T>A (p.Tyr164Asn)
c.733T>A (p.Tyr245Asn)
c.487T>A (p.Tyr163Asn)
c.739T>A (p.Tyr247Asn)
n.910T>A
15g.43252886dupCA2575701576TGM5c.736dup (p.Tyr246LeufsTer?)
n.205dup
c.490dup (p.Tyr164LeufsTer?)
c.733dup (p.Tyr245LeufsTer?)
c.487dup (p.Tyr163LeufsTer?)
c.739dup (p.Tyr247LeufsTer?)
n.910dup
15g.43252886A=CA2173102668TGM5c.735T= (p.Asn245=)
n.204T=
c.489T= (p.Asn163=)
c.732T= (p.Asn244=)
c.486T= (p.Asn162=)
c.738T= (p.Asn246=)
n.909T=
15g.43252886A>CCA392099629TGM5c.735T>G (p.Asn245Lys)
n.204T>G
c.489T>G (p.Asn163Lys)
c.732T>G (p.Asn244Lys)
c.486T>G (p.Asn162Lys)
c.738T>G (p.Asn246Lys)
n.909T>G
dbSNP gnomAD v2 gnomAD v4
15g.43252886A>GCA490131526TGM5c.735T>C (p.Asn245=)
n.204T>C
c.489T>C (p.Asn163=)
c.732T>C (p.Asn244=)
c.486T>C (p.Asn162=)
c.738T>C (p.Asn246=)
n.909T>C
15g.43252886A>TCA392099632TGM5c.735T>A (p.Asn245Lys)
n.204T>A
c.489T>A (p.Asn163Lys)
c.732T>A (p.Asn244Lys)
c.486T>A (p.Asn162Lys)
c.738T>A (p.Asn246Lys)
n.909T>A
dbSNP gnomAD v2 gnomAD v4
15g.43252887T>ACA392099635TGM5c.734A>T (p.Asn245Ile)
n.203A>T
c.488A>T (p.Asn163Ile)
c.731A>T (p.Asn244Ile)
c.485A>T (p.Asn162Ile)
c.737A>T (p.Asn246Ile)
n.908A>T
15g.43252887T>CCA392099638TGM5c.734A>G (p.Asn245Ser)
n.203A>G
c.488A>G (p.Asn163Ser)
c.731A>G (p.Asn244Ser)
c.485A>G (p.Asn162Ser)
c.737A>G (p.Asn246Ser)
n.908A>G
gnomAD v4
15g.43252887T>GCA392099640TGM5c.734A>C (p.Asn245Thr)
n.203A>C
c.488A>C (p.Asn163Thr)
c.731A>C (p.Asn244Thr)
c.485A>C (p.Asn162Thr)
c.737A>C (p.Asn246Thr)
n.908A>C
15g.43252888T>ACA392099643TGM5c.733A>T (p.Asn245Tyr)
n.202A>T
c.487A>T (p.Asn163Tyr)
c.730A>T (p.Asn244Tyr)
c.484A>T (p.Asn162Tyr)
c.736A>T (p.Asn246Tyr)
n.907A>T
15g.43252888T>CCA392099646TGM5c.733A>G (p.Asn245Asp)
n.202A>G
c.487A>G (p.Asn163Asp)
c.730A>G (p.Asn244Asp)
c.484A>G (p.Asn162Asp)
c.736A>G (p.Asn246Asp)
n.907A>G
15g.43252888T>GCA392099649TGM5c.733A>C (p.Asn245His)
n.202A>C
c.487A>C (p.Asn163His)
c.730A>C (p.Asn244His)
c.484A>C (p.Asn162His)
c.736A>C (p.Asn246His)
n.907A>C
15g.43252889C>ACA7521224TGM5c.732G>T (p.Glu244Asp)
n.201G>T
c.486G>T (p.Glu162Asp)
c.729G>T (p.Glu243Asp)
c.483G>T (p.Glu161Asp)
c.735G>T (p.Glu245Asp)
n.906G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252889C=CA2173102669TGM5c.732G= (p.Glu244=)
n.201G=
c.486G= (p.Glu162=)
c.729G= (p.Glu243=)
c.483G= (p.Glu161=)
c.735G= (p.Glu245=)
n.906G=
15g.43252889C>GCA392099653TGM5c.732G>C (p.Glu244Asp)
n.201G>C
c.486G>C (p.Glu162Asp)
c.729G>C (p.Glu243Asp)
c.483G>C (p.Glu161Asp)
c.735G>C (p.Glu245Asp)
n.906G>C
15g.43252889C>TCA490131529TGM5c.732G>A (p.Glu244=)
n.201G>A
c.486G>A (p.Glu162=)
c.729G>A (p.Glu243=)
c.483G>A (p.Glu161=)
c.735G>A (p.Glu245=)
n.906G>A
15g.43252890T>ACA392099668TGM5c.731A>T (p.Glu244Val)
n.200A>T
c.485A>T (p.Glu162Val)
c.728A>T (p.Glu243Val)
c.482A>T (p.Glu161Val)
c.734A>T (p.Glu245Val)
n.905A>T
15g.43252890T>CCA392099660TGM5c.731A>G (p.Glu244Gly)
n.200A>G
c.485A>G (p.Glu162Gly)
c.728A>G (p.Glu243Gly)
c.482A>G (p.Glu161Gly)
c.734A>G (p.Glu245Gly)
n.905A>G
15g.43252890T>GCA392099666TGM5c.731A>C (p.Glu244Ala)
n.200A>C
c.485A>C (p.Glu162Ala)
c.728A>C (p.Glu243Ala)
c.482A>C (p.Glu161Ala)
c.734A>C (p.Glu245Ala)
n.905A>C
15g.43252891C>ACA392099671TGM5c.730G>T (p.Glu244Ter)
n.199G>T
c.484G>T (p.Glu162Ter)
c.727G>T (p.Glu243Ter)
c.481G>T (p.Glu161Ter)
c.733G>T (p.Glu245Ter)
n.904G>T
15g.43252891C>GCA392099673TGM5c.730G>C (p.Glu244Gln)
n.199G>C
c.484G>C (p.Glu162Gln)
c.727G>C (p.Glu243Gln)
c.481G>C (p.Glu161Gln)
c.733G>C (p.Glu245Gln)
n.904G>C
15g.43252891C>TCA392099677TGM5c.730G>A (p.Glu244Lys)
n.199G>A
c.484G>A (p.Glu162Lys)
c.727G>A (p.Glu243Lys)
c.481G>A (p.Glu161Lys)
c.733G>A (p.Glu245Lys)
n.904G>A
15g.43252892A>CCA392099683TGM5c.729T>G (p.Ser243Arg)
n.198T>G
c.483T>G (p.Ser161Arg)
c.726T>G (p.Ser242Arg)
c.480T>G (p.Ser160Arg)
c.732T>G (p.Ser244Arg)
n.903T>G
15g.43252892A>GCA490131533TGM5c.729T>C (p.Ser243=)
n.198T>C
c.483T>C (p.Ser161=)
c.726T>C (p.Ser242=)
c.480T>C (p.Ser160=)
c.732T>C (p.Ser244=)
n.903T>C
15g.43252892A>TCA392099685TGM5c.729T>A (p.Ser243Arg)
n.198T>A
c.483T>A (p.Ser161Arg)
c.726T>A (p.Ser242Arg)
c.480T>A (p.Ser160Arg)
c.732T>A (p.Ser244Arg)
n.903T>A
15g.43252893C>ACA392099691TGM5c.728G>T (p.Ser243Ile)
n.197G>T
c.482G>T (p.Ser161Ile)
c.725G>T (p.Ser242Ile)
c.479G>T (p.Ser160Ile)
c.731G>T (p.Ser244Ile)
n.902G>T
15g.43252893C=CA2173102670TGM5c.728G= (p.Ser243=)
n.197G=
c.482G= (p.Ser161=)
c.725G= (p.Ser242=)
c.479G= (p.Ser160=)
c.731G= (p.Ser244=)
n.902G=
15g.43252893C>GCA7521225TGM5c.728G>C (p.Ser243Thr)
n.197G>C
c.482G>C (p.Ser161Thr)
c.725G>C (p.Ser242Thr)
c.479G>C (p.Ser160Thr)
c.731G>C (p.Ser244Thr)
n.902G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252893C>TCA392099696TGM5c.728G>A (p.Ser243Asn)
n.197G>A
c.482G>A (p.Ser161Asn)
c.725G>A (p.Ser242Asn)
c.479G>A (p.Ser160Asn)
c.731G>A (p.Ser244Asn)
n.902G>A
gnomAD v4
15g.43252894T>ACA392099702TGM5c.727A>T (p.Ser243Cys)
n.196A>T
c.481A>T (p.Ser161Cys)
c.724A>T (p.Ser242Cys)
c.478A>T (p.Ser160Cys)
c.730A>T (p.Ser244Cys)
n.901A>T
15g.43252894T>CCA392099705TGM5c.727A>G (p.Ser243Gly)
n.196A>G
c.481A>G (p.Ser161Gly)
c.724A>G (p.Ser242Gly)
c.478A>G (p.Ser160Gly)
c.730A>G (p.Ser244Gly)
n.901A>G
15g.43252894T>GCA392099708TGM5c.727A>C (p.Ser243Arg)
n.196A>C
c.481A>C (p.Ser161Arg)
c.724A>C (p.Ser242Arg)
c.478A>C (p.Ser160Arg)
c.730A>C (p.Ser244Arg)
n.901A>C
15g.43252895C>ACA392099717TGM5c.726G>T (p.Trp242Cys)
n.195G>T
c.480G>T (p.Trp160Cys)
c.723G>T (p.Trp241Cys)
c.477G>T (p.Trp159Cys)
c.729G>T (p.Trp243Cys)
n.900G>T
15g.43252895C>GCA392099715TGM5c.726G>C (p.Trp242Cys)
n.195G>C
c.480G>C (p.Trp160Cys)
c.723G>C (p.Trp241Cys)
c.477G>C (p.Trp159Cys)
c.729G>C (p.Trp243Cys)
n.900G>C
15g.43252895C>TCA392099711TGM5c.726G>A (p.Trp242Ter)
n.195G>A
c.480G>A (p.Trp160Ter)
c.723G>A (p.Trp241Ter)
c.477G>A (p.Trp159Ter)
c.729G>A (p.Trp243Ter)
n.900G>A
COSMIC
15g.43252896C>ACA392099721TGM5c.725G>T (p.Trp242Leu)
n.194G>T
c.479G>T (p.Trp160Leu)
c.722G>T (p.Trp241Leu)
c.476G>T (p.Trp159Leu)
c.728G>T (p.Trp243Leu)
n.899G>T
15g.43252896C>GCA392099728TGM5c.725G>C (p.Trp242Ser)
n.194G>C
c.479G>C (p.Trp160Ser)
c.722G>C (p.Trp241Ser)
c.476G>C (p.Trp159Ser)
c.728G>C (p.Trp243Ser)
n.899G>C
15g.43252896C>TCA392099725TGM5c.725G>A (p.Trp242Ter)
n.194G>A
c.479G>A (p.Trp160Ter)
c.722G>A (p.Trp241Ter)
c.476G>A (p.Trp159Ter)
c.728G>A (p.Trp243Ter)
n.899G>A
gnomAD v4

Number of alleles fetched