Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.43252796G>A | CA7521194 | TGM5 | c.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 |
15 | g.43252796G>C | CA392099011 | TGM5 | c.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 | |
15 | g.43252796G= | CA2173102618 | TGM5 | c.825C= (p.Tyr275=) n.294C= c.579C= (p.Tyr193=) c.822C= (p.Tyr274=) c.576C= (p.Tyr192=) c.828C= (p.Tyr276=) n.999C= | |
15 | g.43252796G>T | CA392099014 | TGM5 | c.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 | |
15 | g.43252797T>A | CA392099016 | TGM5 | c.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 | |
15 | g.43252797T>C | CA392099018 | TGM5 | c.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 | |
15 | g.43252797T>G | CA392099020 | TGM5 | c.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 | |
15 | g.43252798A>C | CA392099023 | TGM5 | c.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 | |
15 | g.43252798A>G | CA392099025 | TGM5 | c.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 | |
15 | g.43252798A>T | CA392099027 | TGM5 | c.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 | |
15 | g.43252799G>A | CA490131451 | TGM5 | c.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 | |
15 | g.43252799G>C | CA490131453 | TGM5 | c.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 | |
15 | g.43252799G>T | CA490131452 | TGM5 | c.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 | |
15 | g.43252800C>A | CA7521196 | TGM5 | c.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 |
15 | g.43252800C= | CA2173102619 | TGM5 | c.821G= (p.Arg274=) n.290G= c.575G= (p.Arg192=) c.818G= (p.Arg273=) c.572G= (p.Arg191=) c.824G= (p.Arg275=) n.995G= | |
15 | g.43252800C>G | CA392099032 | TGM5 | c.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 | |
15 | g.43252800C>T | CA7521195 | TGM5 | c.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 |
15 | g.43252801G>A | CA7521198 | TGM5 | c.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 |
15 | g.43252801G>C | CA392099038 | TGM5 | c.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 | |
15 | g.43252801G= | CA2173102620 | TGM5 | c.820C= (p.Arg274=) n.289C= c.574C= (p.Arg192=) c.817C= (p.Arg273=) c.571C= (p.Arg191=) c.823C= (p.Arg275=) n.994C= | |
15 | g.43252801G>T | CA7521197 | TGM5 | c.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 |
15 | g.43252802C>A | CA490131454 | TGM5 | c.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 | |
15 | g.43252802C= | CA2173102621 | TGM5 | c.819G= (p.Val273=) n.288G= c.573G= (p.Val191=) c.816G= (p.Val272=) c.570G= (p.Val190=) c.822G= (p.Val274=) n.993G= | |
15 | g.43252802C>G | CA490131455 | TGM5 | c.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 |
15 | g.43252802C>T | CA490131456 | TGM5 | c.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 |
15 | g.43252803A= | CA2173102622 | TGM5 | c.818T= (p.Val273=) n.287T= c.572T= (p.Val191=) c.815T= (p.Val272=) c.569T= (p.Val190=) c.821T= (p.Val274=) n.992T= | |
15 | g.43252803A>C | CA392099040 | TGM5 | c.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 |
15 | g.43252803A>G | CA392099041 | TGM5 | c.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 |
15 | g.43252803A>T | CA392099044 | TGM5 | c.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 |
15 | g.43252804C>A | CA392099047 | TGM5 | c.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 | |
15 | g.43252804C= | CA2173102623 | TGM5 | c.817G= (p.Val273=) n.286G= c.571G= (p.Val191=) c.814G= (p.Val272=) c.568G= (p.Val190=) c.820G= (p.Val274=) n.991G= | |
15 | g.43252804C>G | CA7521200 | TGM5 | c.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 |
15 | g.43252804C>T | CA7521199 | TGM5 | c.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 |
15 | g.43252804_43252805delinsCG | CA2173102624 | TGM5 | c.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 | |
15 | g.43252805G>A | CA7521202 | TGM5 | c.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 |
15 | g.43252805G>C | CA490131457 | TGM5 | c.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 | |
15 | g.43252805G= | CA2173102625 | TGM5 | c.816C= (p.Pro272=) n.285C= c.570C= (p.Pro190=) c.813C= (p.Pro271=) c.567C= (p.Pro189=) c.819C= (p.Pro273=) n.990C= | |
15 | g.43252805G>T | CA490131458 | TGM5 | c.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 | |
15 | g.43252807del | CA7521201 | TGM5 | c.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 |
15 | g.43252806G>A | CA392099064 | TGM5 | c.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 | |
15 | g.43252806G>C | CA392099066 | TGM5 | c.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 | |
15 | g.43252806G>T | CA392099062 | TGM5 | c.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 | |
15 | g.43252807G>A | CA392099070 | TGM5 | c.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 |
15 | g.43252807G>C | CA392099071 | TGM5 | c.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 | |
15 | g.43252807G>T | CA392099073 | TGM5 | c.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 | |
15 | g.43252808C>A | CA392099076 | TGM5 | c.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 | |
15 | g.43252808C>G | CA392099079 | TGM5 | c.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 | |
15 | g.43252808C>T | CA490131459 | TGM5 | c.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 |
15 | g.43252809T>A | CA392099081 | TGM5 | c.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 | |
15 | g.43252809T>C | CA392099084 | TGM5 | c.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 | |
15 | g.43252809T>G | CA392099086 | TGM5 | c.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 | |
15 | g.43252810G>A | CA392099089 | TGM5 | c.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 | |
15 | g.43252810G>C | CA392099091 | TGM5 | c.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 | |
15 | g.43252810G>T | CA392099092 | TGM5 | c.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 | |
15 | g.43252811G>A | CA7521203 | TGM5 | c.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 |
15 | g.43252811G>C | CA392099095 | TGM5 | c.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 | |
15 | g.43252811G= | CA2173102626 | TGM5 | c.810C= (p.Cys270=) n.279C= c.564C= (p.Cys188=) c.807C= (p.Cys269=) c.561C= (p.Cys187=) c.813C= (p.Cys271=) n.984C= | |
15 | g.43252811G>T | CA392099097 | TGM5 | c.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 | |
15 | g.43252812C>A | CA392099100 | TGM5 | c.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 | |
15 | g.43252812C>G | CA392099102 | TGM5 | c.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 | |
15 | g.43252812C>T | CA392099104 | TGM5 | c.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 |
15 | g.43252812_43252813del | CA2573054006 | TGM5 | c.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 |
15 | g.43252813A>C | CA392099108 | TGM5 | c.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 |
15 | g.43252813A>G | CA392099110 | TGM5 | c.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 | |
15 | g.43252813A>T | CA392099112 | TGM5 | c.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 | |
15 | g.43252814G>A | CA490131462 | TGM5 | c.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 | |
15 | g.43252814G>C | CA490131460 | TGM5 | c.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 |
15 | g.43252814G>T | CA490131461 | TGM5 | c.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 | |
15 | g.43252815C>A | CA392099116 | TGM5 | c.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 | |
15 | g.43252815C= | CA2173102627 | TGM5 | c.806G= (p.Gly269=) n.275G= c.560G= (p.Gly187=) c.803G= (p.Gly268=) c.557G= (p.Gly186=) c.809G= (p.Gly270=) n.980G= | |
15 | g.43252815C>G | CA392099118 | TGM5 | c.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 | |
15 | g.43252815C>T | CA392099119 | TGM5 | c.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 |
15 | g.43252816C>A | CA392099122 | TGM5 | c.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 | |
15 | g.43252816C= | CA2173102628 | TGM5 | c.805G= (p.Gly269=) n.274G= c.559G= (p.Gly187=) c.802G= (p.Gly268=) c.556G= (p.Gly186=) c.808G= (p.Gly270=) n.979G= | |
15 | g.43252816C>G | CA392099124 | TGM5 | c.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 | |
15 | g.43252816C>T | CA7521204 | TGM5 | c.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 |
15 | g.43252817T>A | CA490131463 | TGM5 | c.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 | |
15 | g.43252817T>C | CA490131464 | TGM5 | c.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 |
15 | g.43252817T>G | CA490131465 | TGM5 | c.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 | |
15 | g.43252817T= | CA2173102629 | TGM5 | c.804A= (p.Thr268=) n.273A= c.558A= (p.Thr186=) c.801A= (p.Thr267=) c.555A= (p.Thr185=) c.807A= (p.Thr269=) n.978A= | |
15 | g.43252818G>A | CA392099130 | TGM5 | c.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 |
15 | g.43252818G>C | CA392099133 | TGM5 | c.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 | |
15 | g.43252818G= | CA2173102630 | TGM5 | c.803C= (p.Thr268=) n.272C= c.557C= (p.Thr186=) c.800C= (p.Thr267=) c.554C= (p.Thr185=) c.806C= (p.Thr269=) n.977C= | |
15 | g.43252818G>T | CA392099128 | TGM5 | c.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 |
15 | g.43252819T>A | CA392099139 | TGM5 | c.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 | |
15 | g.43252819T>C | CA392099135 | TGM5 | c.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 | |
15 | g.43252819T>G | CA392099137 | TGM5 | c.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 | |
15 | g.43252820G>A | CA490131466 | TGM5 | c.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 | |
15 | g.43252820G>C | CA490131467 | TGM5 | c.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 | |
15 | g.43252820G>T | CA490131468 | TGM5 | c.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 | |
15 | g.43252821G>A | CA392099143 | TGM5 | c.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 | |
15 | g.43252821G>C | CA392099145 | TGM5 | c.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 | |
15 | g.43252821G>T | CA392099147 | TGM5 | c.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 | |
15 | g.43252822C>A | CA392099153 | TGM5 | c.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 | |
15 | g.43252822C= | CA2173102631 | TGM5 | c.799G= (p.Ala267=) n.268G= c.553G= (p.Ala185=) c.796G= (p.Ala266=) c.550G= (p.Ala184=) c.802G= (p.Ala268=) n.973G= | |
15 | g.43252822C>G | CA392099150 | TGM5 | c.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 | |
15 | g.43252822C>T | CA7521205 | TGM5 | c.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 |
15 | g.43252823G>A | CA7521206 | TGM5 | c.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 |
15 | g.43252823G>C | CA392099157 | TGM5 | c.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 |
15 | g.43252823G= | CA2173102632 | TGM5 | c.798C= (p.Asn266=) n.267C= c.552C= (p.Asn184=) c.795C= (p.Asn265=) c.549C= (p.Asn183=) c.801C= (p.Asn267=) n.972C= | |
15 | g.43252823G>T | CA392099159 | TGM5 | c.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 | |
15 | g.43252824T>A | CA392099162 | TGM5 | c.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 | |
15 | g.43252824T>C | CA392099165 | TGM5 | c.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 | |
15 | g.43252824T>G | CA392099167 | TGM5 | c.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 | |
15 | g.43252825T>A | CA392099170 | TGM5 | c.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 | |
15 | g.43252825T>C | CA392099175 | TGM5 | c.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 | |
15 | g.43252825T>G | CA392099173 | TGM5 | c.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 | |
15 | g.43252826C>A | CA392099176 | TGM5 | c.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 | |
15 | g.43252826C= | CA2173102633 | TGM5 | c.795G= (p.Trp265=) n.264G= c.549G= (p.Trp183=) c.792G= (p.Trp264=) c.546G= (p.Trp182=) c.798G= (p.Trp266=) n.969G= | |
15 | g.43252826C>G | CA392099179 | TGM5 | c.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 | |
15 | g.43252826C>T | CA269975286 | TGM5 | c.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 |
15 | g.43252827C>A | CA392099182 | TGM5 | c.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 | |
15 | g.43252827C>G | CA392099184 | TGM5 | c.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 | |
15 | g.43252827C>T | CA392099187 | TGM5 | c.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 |
15 | g.43252828A>C | CA392099190 | TGM5 | c.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 | |
15 | g.43252828A>G | CA392099192 | TGM5 | c.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 | |
15 | g.43252828A>T | CA392099194 | TGM5 | c.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 | |
15 | g.43252829C>A | CA392099196 | TGM5 | c.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 | |
15 | g.43252829C= | CA2173102634 | TGM5 | c.792G= (p.Gln264=) n.261G= c.546G= (p.Gln182=) c.789G= (p.Gln263=) c.543G= (p.Gln181=) c.795G= (p.Gln265=) n.966G= | |
15 | g.43252829C>G | CA392099197 | TGM5 | c.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 | |
15 | g.43252829C>T | CA269975289 | TGM5 | c.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 |
15 | g.43252830T>A | CA392099200 | TGM5 | c.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 | |
15 | g.43252830T>C | CA7521207 | TGM5 | c.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 |
15 | g.43252830T>G | CA392099198 | TGM5 | c.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 | |
15 | g.43252830T= | CA2173102635 | TGM5 | c.791A= (p.Gln264=) n.260A= c.545A= (p.Gln182=) c.788A= (p.Gln263=) c.542A= (p.Gln181=) c.794A= (p.Gln265=) n.965A= | |
15 | g.43252831G>A | CA392099203 | TGM5 | c.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 | |
15 | g.43252831G>C | CA392099205 | TGM5 | c.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 |
15 | g.43252831G= | CA2173102636 | TGM5 | c.790C= (p.Gln264=) n.259C= c.544C= (p.Gln182=) c.787C= (p.Gln263=) c.541C= (p.Gln181=) c.793C= (p.Gln265=) n.964C= | |
15 | g.43252831G>T | CA269975290 | TGM5 | c.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 |
15 | g.43252832C>A | CA392099209 | TGM5 | c.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 | |
15 | g.43252832C= | CA2173102637 | TGM5 | c.789G= (p.Lys263=) n.258G= c.543G= (p.Lys181=) c.786G= (p.Lys262=) c.540G= (p.Lys180=) c.792G= (p.Lys264=) n.963G= | |
15 | g.43252832C>G | CA392099211 | TGM5 | c.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 | |
15 | g.43252832C>T | CA490131469 | TGM5 | c.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 |
15 | g.43252833T>A | CA392099214 | TGM5 | c.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 | |
15 | g.43252833T>C | CA392099216 | TGM5 | c.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 | |
15 | g.43252833T>G | CA392099219 | TGM5 | c.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 | |
15 | g.43252834T>A | CA392099222 | TGM5 | c.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 | |
15 | g.43252834T>C | CA392099226 | TGM5 | c.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 | |
15 | g.43252834T>G | CA392099229 | TGM5 | c.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 | |
15 | g.43252835C>A | CA490131472 | TGM5 | c.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 | |
15 | g.43252835C>G | CA490131471 | TGM5 | c.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 | |
15 | g.43252835C>T | CA490131470 | TGM5 | c.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 | |
15 | g.43252836A>C | CA392099232 | TGM5 | c.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 | |
15 | g.43252836A>G | CA392099235 | TGM5 | c.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 | |
15 | g.43252836A>T | CA392099238 | TGM5 | c.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 | |
15 | g.43252837G>A | CA490131473 | TGM5 | c.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 | |
15 | g.43252837G>C | CA392099245 | TGM5 | c.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 | |
15 | g.43252837G>T | CA392099247 | TGM5 | c.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 |
15 | g.43252838G>A | CA490131474 | TGM5 | c.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 | |
15 | g.43252838G>C | CA392099252 | TGM5 | c.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 | |
15 | g.43252838G= | CA2173102638 | TGM5 | c.783C= (p.Ile261=) n.252C= c.537C= (p.Ile179=) c.780C= (p.Ile260=) c.534C= (p.Ile178=) c.786C= (p.Ile262=) n.957C= | |
15 | g.43252838G>T | CA490131475 | TGM5 | c.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 |
15 | g.43252839A>C | CA392099255 | TGM5 | c.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 | |
15 | g.43252839A>G | CA392099257 | TGM5 | c.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 |
15 | g.43252839A>T | CA392099260 | TGM5 | c.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 | |
15 | g.43252840T>A | CA392099264 | TGM5 | c.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 | |
15 | g.43252840T>C | CA392099268 | TGM5 | c.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 |
15 | g.43252840T>G | CA392099271 | TGM5 | c.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 | |
15 | g.43252840T= | CA2173102639 | TGM5 | c.781A= (p.Ile261=) n.250A= c.535A= (p.Ile179=) c.778A= (p.Ile260=) c.532A= (p.Ile178=) c.784A= (p.Ile262=) n.955A= | |
15 | g.43252841G>A | CA490131476 | TGM5 | c.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 |
15 | g.43252841G>C | CA490131478 | TGM5 | c.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 | |
15 | g.43252841G>T | CA490131477 | TGM5 | c.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 | |
15 | g.43252842G>A | CA392099275 | TGM5 | c.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 |
15 | g.43252842G>C | CA392099278 | TGM5 | c.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 | |
15 | g.43252842G= | CA2173102640 | TGM5 | c.779C= (p.Ala260=) n.248C= c.533C= (p.Ala178=) c.776C= (p.Ala259=) c.530C= (p.Ala177=) c.782C= (p.Ala261=) n.953C= | |
15 | g.43252842G>T | CA7521208 | TGM5 | c.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 |
15 | g.43252842_43252843delinsGC | CA2173102641 | TGM5 | c.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 | |
15 | g.43252843C>A | CA392099283 | TGM5 | c.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 | |
15 | g.43252843C>G | CA392099286 | TGM5 | c.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 | |
15 | g.43252843C>T | CA392099289 | TGM5 | c.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 | |
15 | g.43252844del | CA2173102642 | TGM5 | c.778del (p.Ala260ProfsTer3) n.247del c.532del (p.Ala178ProfsTer3) c.775del (p.Ala259ProfsTer3) c.529del (p.Ala177ProfsTer3) c.781del (p.Ala261ProfsTer3) n.952del | dbSNP |
15 | g.43252844C>A | CA490131479 | TGM5 | c.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 | |
15 | g.43252844C>G | CA490131480 | TGM5 | c.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 | |
15 | g.43252844C>T | CA490131481 | TGM5 | c.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 | |
15 | g.43252845A= | CA2173102643 | TGM5 | c.776T= (p.Val259=) n.245T= c.530T= (p.Val177=) c.773T= (p.Val258=) c.527T= (p.Val176=) c.779T= (p.Val260=) n.950T= | |
15 | g.43252845A>C | CA392099298 | TGM5 | c.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 | |
15 | g.43252845A>G | CA269975292 | TGM5 | c.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 |
15 | g.43252845A>T | CA392099293 | TGM5 | c.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 | |
15 | g.43252846C>A | CA392099309 | TGM5 | c.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 | |
15 | g.43252846C= | CA2173102644 | TGM5 | c.775G= (p.Val259=) n.244G= c.529G= (p.Val177=) c.772G= (p.Val258=) c.526G= (p.Val176=) c.778G= (p.Val260=) n.949G= | |
15 | g.43252846C>G | CA392099303 | TGM5 | c.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 |
15 | g.43252846C>T | CA7521209 | TGM5 | c.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 |
15 | g.43252847G>A | CA7521210 | TGM5 | c.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 |
15 | g.43252847G>C | CA392099314 | TGM5 | c.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 |
15 | g.43252847G= | CA2173102645 | TGM5 | c.774C= (p.Ser258=) n.243C= c.528C= (p.Ser176=) c.771C= (p.Ser257=) c.525C= (p.Ser175=) c.777C= (p.Ser259=) n.948C= | |
15 | g.43252847G>T | CA392099317 | TGM5 | c.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 | |
15 | g.43252848del | CA2695220044 | TGM5 | c.773del (p.Ser258ThrfsTer5) n.242del c.527del (p.Ser176ThrfsTer5) c.770del (p.Ser257ThrfsTer5) c.524del (p.Ser175ThrfsTer5) c.776del (p.Ser259ThrfsTer5) n.947del | |
15 | g.43252848C>A | CA392099328 | TGM5 | c.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 | |
15 | g.43252848C>G | CA392099325 | TGM5 | c.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 | |
15 | g.43252848C>T | CA392099322 | TGM5 | c.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 | |
15 | g.43252849T>A | CA392099333 | TGM5 | c.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 | |
15 | g.43252849T>C | CA392099335 | TGM5 | c.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 | |
15 | g.43252849T>G | CA392099338 | TGM5 | c.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 | |
15 | g.43252850G>A | CA490131482 | TGM5 | c.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 | |
15 | g.43252850G>C | CA490131483 | TGM5 | c.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 | |
15 | g.43252850G>T | CA490131484 | TGM5 | c.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 | |
15 | g.43252850_43252851delinsGC | CA2173102646 | TGM5 | c.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 | |
15 | g.43252851C>A | CA392099342 | TGM5 | c.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 | |
15 | g.43252851C>G | CA392099346 | TGM5 | c.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 | |
15 | g.43252851C>T | CA392099349 | TGM5 | c.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 | |
15 | g.43252853del | CA2173102647 | TGM5 | c.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 |
15 | g.43252852C>A | CA392099360 | TGM5 | c.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 | |
15 | g.43252852C>G | CA392099354 | TGM5 | c.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 | |
15 | g.43252852C>T | CA392099357 | TGM5 | c.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 |
15 | g.43252853C>A | CA490131485 | TGM5 | c.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 | |
15 | g.43252853C= | CA2173102648 | TGM5 | c.768G= (p.Thr256=) n.237G= c.522G= (p.Thr174=) c.765G= (p.Thr255=) c.519G= (p.Thr173=) c.771G= (p.Thr257=) n.942G= | |
15 | g.43252853C>G | CA490131486 | TGM5 | c.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 | |
15 | g.43252853C>T | CA7521211 | TGM5 | c.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 |
15 | g.43252854G>A | CA7521212 | TGM5 | c.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 |
15 | g.43252854G>C | CA392099368 | TGM5 | c.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 | |
15 | g.43252854G= | CA2173102649 | TGM5 | c.767C= (p.Thr256=) n.236C= c.521C= (p.Thr174=) c.764C= (p.Thr255=) c.518C= (p.Thr173=) c.770C= (p.Thr257=) n.941C= | |
15 | g.43252854G>T | CA392099371 | TGM5 | c.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 |
15 | g.43252855T>A | CA392099375 | TGM5 | c.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 | |
15 | g.43252855T>C | CA7521213 | TGM5 | c.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 |
15 | g.43252855T>G | CA392099379 | TGM5 | c.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 | |
15 | g.43252855T= | CA2173102650 | TGM5 | c.766A= (p.Thr256=) n.235A= c.520A= (p.Thr174=) c.763A= (p.Thr255=) c.517A= (p.Thr173=) c.769A= (p.Thr257=) n.940A= | |
15 | g.43252856C>A | CA392099382 | TGM5 | c.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 | |
15 | g.43252856C>G | CA392099386 | TGM5 | c.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 |
15 | g.43252856C>T | CA392099389 | TGM5 | c.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 | |
15 | g.43252857C>A | CA392099394 | TGM5 | c.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 | |
15 | g.43252857C= | CA2173102651 | TGM5 | c.764G= (p.Trp255=) n.233G= c.518G= (p.Trp173=) c.761G= (p.Trp254=) c.515G= (p.Trp172=) c.767G= (p.Trp256=) n.938G= | |
15 | g.43252857C>G | CA392099397 | TGM5 | c.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 | |
15 | g.43252857C>T | CA7521214 | TGM5 | c.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 |
15 | g.43252858A= | CA2173102652 | TGM5 | c.763T= (p.Trp255=) n.232T= c.517T= (p.Trp173=) c.760T= (p.Trp254=) c.514T= (p.Trp172=) c.766T= (p.Trp256=) n.937T= | |
15 | g.43252858A>C | CA392099409 | TGM5 | c.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 | |
15 | g.43252858A>G | CA170978 | TGM5 | c.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 |
15 | g.43252858A>T | CA392099406 | TGM5 | c.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 | |
15 | g.43252859C>A | CA392099413 | TGM5 | c.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 | |
15 | g.43252859C= | CA2173102653 | TGM5 | c.762G= (p.Glu254=) n.231G= c.516G= (p.Glu172=) c.759G= (p.Glu253=) c.513G= (p.Glu171=) c.765G= (p.Glu255=) n.936G= | |
15 | g.43252859C>G | CA392099415 | TGM5 | c.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 | |
15 | g.43252859C>T | CA7521215 | TGM5 | c.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 |
15 | g.43252860T>A | CA392099421 | TGM5 | c.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 | |
15 | g.43252860T>C | CA392099424 | TGM5 | c.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 | |
15 | g.43252860T>G | CA392099427 | TGM5 | c.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 | |
15 | g.43252861C>A | CA392099432 | TGM5 | c.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 | |
15 | g.43252861C= | CA2173102654 | TGM5 | c.760G= (p.Glu254=) n.229G= c.514G= (p.Glu172=) c.757G= (p.Glu253=) c.511G= (p.Glu171=) c.763G= (p.Glu255=) n.934G= | |
15 | g.43252861C>G | CA392099434 | TGM5 | c.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 | |
15 | g.43252861C>T | CA269975339 | TGM5 | c.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 |
15 | g.43252862C>A | CA490131488 | TGM5 | c.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 |
15 | g.43252862C= | CA2173102655 | TGM5 | c.759G= (p.Ala253=) n.228G= c.513G= (p.Ala171=) c.756G= (p.Ala252=) c.510G= (p.Ala170=) c.762G= (p.Ala254=) n.933G= | |
15 | g.43252862C>G | CA490131490 | TGM5 | c.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 | |
15 | g.43252862C>T | CA7521216 | TGM5 | c.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 |
15 | g.43252863G>A | CA7521217 | TGM5 | c.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 |
15 | g.43252863G>C | CA392099445 | TGM5 | c.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 | |
15 | g.43252863G= | CA2173102656 | TGM5 | c.758C= (p.Ala253=) n.227C= c.512C= (p.Ala171=) c.755C= (p.Ala252=) c.509C= (p.Ala170=) c.761C= (p.Ala254=) n.932C= | |
15 | g.43252863G>T | CA7521218 | TGM5 | c.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 |
15 | g.43252864C>A | CA392099458 | TGM5 | c.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 | |
15 | g.43252864C>G | CA392099455 | TGM5 | c.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 | |
15 | g.43252864C>T | CA392099453 | TGM5 | c.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 | |
15 | g.43252865A>C | CA490131494 | TGM5 | c.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 | |
15 | g.43252865A>G | CA490131495 | TGM5 | c.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 | |
15 | g.43252865A>T | CA490131496 | TGM5 | c.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 | |
15 | g.43252865_43252866delinsAG | CA2173102657 | TGM5 | c.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 | |
15 | g.43252866G>A | CA392099462 | TGM5 | c.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 | |
15 | g.43252866G>C | CA392099465 | TGM5 | c.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 | |
15 | g.43252866G>T | CA392099467 | TGM5 | c.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 | |
15 | g.43252868del | CA618003368 | TGM5 | c.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 |
15 | g.43252867G>A | CA7521219 | TGM5 | c.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 |
15 | g.43252867G>C | CA392099472 | TGM5 | c.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 | |
15 | g.43252867G= | CA2173102658 | TGM5 | c.754C= (p.Pro252=) n.223C= c.508C= (p.Pro170=) c.751C= (p.Pro251=) c.505C= (p.Pro169=) c.757C= (p.Pro253=) n.928C= | |
15 | g.43252867G>T | CA392099475 | TGM5 | c.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 | |
15 | g.43252868G>A | CA7521220 | TGM5 | c.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 |
15 | g.43252868G>C | CA392099483 | TGM5 | c.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 | |
15 | g.43252868G= | CA2173102659 | TGM5 | c.753C= (p.Asn251=) n.222C= c.507C= (p.Asn169=) c.750C= (p.Asn250=) c.504C= (p.Asn168=) c.756C= (p.Asn252=) n.927C= | |
15 | g.43252868G>T | CA392099485 | TGM5 | c.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 | |
15 | g.43252868_43252869delinsGT | CA2173102660 | TGM5 | c.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 | |
15 | g.43252869T>A | CA392099492 | TGM5 | c.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 | |
15 | g.43252869T>C | CA392099495 | TGM5 | c.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 | |
15 | g.43252869T>G | CA392099498 | TGM5 | c.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 |
15 | g.43252869T= | CA2173102661 | TGM5 | c.752A= (p.Asn251=) n.221A= c.506A= (p.Asn169=) c.749A= (p.Asn250=) c.503A= (p.Asn168=) c.755A= (p.Asn252=) n.926A= | |
15 | g.43252870del | CA7521221 | TGM5 | c.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 |
15 | g.43252870T>A | CA392099507 | TGM5 | c.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 | |
15 | g.43252870T>C | CA392099511 | TGM5 | c.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 | |
15 | g.43252870T>G | CA392099504 | TGM5 | c.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 | |
15 | g.43252871G>A | CA490131505 | TGM5 | c.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 | |
15 | g.43252871G>C | CA490131506 | TGM5 | c.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 | |
15 | g.43252871G>T | CA490131507 | TGM5 | c.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 |
15 | g.43252872G>A | CA392099516 | TGM5 | c.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 |
15 | g.43252872G>C | CA392099523 | TGM5 | c.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 | |
15 | g.43252872G>T | CA392099519 | TGM5 | c.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 | |
15 | g.43252873C>A | CA269975389 | TGM5 | c.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 |
15 | g.43252873C= | CA2173102662 | TGM5 | c.748G= (p.Ala250=) n.217G= c.502G= (p.Ala168=) c.745G= (p.Ala249=) c.499G= (p.Ala167=) c.751G= (p.Ala251=) n.922G= | |
15 | g.43252873C>G | CA392099531 | TGM5 | c.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 | |
15 | g.43252873C>T | CA7521222 | TGM5 | c.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 |
15 | g.43252874G>A | CA269975392 | TGM5 | c.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 |
15 | g.43252874G>C | CA490131511 | TGM5 | c.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 |
15 | g.43252874G= | CA2173102663 | TGM5 | c.747C= (p.Gly249=) n.216C= c.501C= (p.Gly167=) c.744C= (p.Gly248=) c.498C= (p.Gly166=) c.750C= (p.Gly250=) n.921C= | |
15 | g.43252874G>T | CA490131512 | TGM5 | c.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 | |
15 | g.43252875C>A | CA392099538 | TGM5 | c.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 | |
15 | g.43252875C>G | CA392099542 | TGM5 | c.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 | |
15 | g.43252875C>T | CA392099547 | TGM5 | c.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 | |
15 | g.43252876C>A | CA392099550 | TGM5 | c.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 | |
15 | g.43252876C= | CA2173102664 | TGM5 | c.745G= (p.Gly249=) n.214G= c.499G= (p.Gly167=) c.742G= (p.Gly248=) c.496G= (p.Gly166=) c.748G= (p.Gly250=) n.919G= | |
15 | g.43252876C>G | CA269975399 | TGM5 | c.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 |
15 | g.43252876C>T | CA392099555 | TGM5 | c.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 |
15 | g.43252877G>A | CA7521223 | TGM5 | c.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 |
15 | g.43252877G>C | CA392099560 | TGM5 | c.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 |
15 | g.43252877G= | CA2173102665 | TGM5 | c.744C= (p.Asp248=) n.213C= c.498C= (p.Asp166=) c.741C= (p.Asp247=) c.495C= (p.Asp165=) c.747C= (p.Asp249=) n.918C= | |
15 | g.43252877G>T | CA392099562 | TGM5 | c.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 | |
15 | g.43252878T>A | CA392099571 | TGM5 | c.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 | |
15 | g.43252878T>C | CA392099566 | TGM5 | c.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 |
15 | g.43252878T>G | CA392099568 | TGM5 | c.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 | |
15 | g.43252879C>A | CA392099576 | TGM5 | c.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 | |
15 | g.43252879C>G | CA392099578 | TGM5 | c.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 | |
15 | g.43252879C>T | CA392099582 | TGM5 | c.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 | |
15 | g.43252880T>A | CA490131516 | TGM5 | c.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 | |
15 | g.43252880T>C | CA490131517 | TGM5 | c.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 |
15 | g.43252880T>G | CA490131518 | TGM5 | c.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 | |
15 | g.43252881G>A | CA392099586 | TGM5 | c.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 |
15 | g.43252881G>C | CA392099591 | TGM5 | c.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 |
15 | g.43252881G= | CA2173102666 | TGM5 | c.740C= (p.Thr247=) n.209C= c.494C= (p.Thr165=) c.737C= (p.Thr246=) c.491C= (p.Thr164=) c.743C= (p.Thr248=) n.914C= | |
15 | g.43252881G>T | CA392099593 | TGM5 | c.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 | |
15 | g.43252882T>A | CA392099596 | TGM5 | c.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 | |
15 | g.43252882T>C | CA392099600 | TGM5 | c.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 | |
15 | g.43252882T>G | CA392099603 | TGM5 | c.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 | |
15 | g.43252883G>A | CA490131522 | TGM5 | c.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 | |
15 | g.43252883G>C | CA392099605 | TGM5 | c.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 | |
15 | g.43252883G>T | CA392099608 | TGM5 | c.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 | |
15 | g.43252884T>A | CA392099619 | TGM5 | c.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 | |
15 | g.43252884T>C | CA392099615 | TGM5 | c.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 |
15 | g.43252884T>G | CA392099611 | TGM5 | c.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 | |
15 | g.43252884T= | CA2173102667 | TGM5 | c.737A= (p.Tyr246=) n.206A= c.491A= (p.Tyr164=) c.734A= (p.Tyr245=) c.488A= (p.Tyr163=) c.740A= (p.Tyr247=) n.911A= | |
15 | g.43252885A>C | CA392099622 | TGM5 | c.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 | |
15 | g.43252885A>G | CA392099624 | TGM5 | c.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 |
15 | g.43252885A>T | CA392099627 | TGM5 | c.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 | |
15 | g.43252886dup | CA2575701576 | TGM5 | c.736dup (p.Tyr246LeufsTer?) n.205dup c.490dup (p.Tyr164LeufsTer?) c.733dup (p.Tyr245LeufsTer?) c.487dup (p.Tyr163LeufsTer?) c.739dup (p.Tyr247LeufsTer?) n.910dup | |
15 | g.43252886A= | CA2173102668 | TGM5 | c.735T= (p.Asn245=) n.204T= c.489T= (p.Asn163=) c.732T= (p.Asn244=) c.486T= (p.Asn162=) c.738T= (p.Asn246=) n.909T= | |
15 | g.43252886A>C | CA392099629 | TGM5 | c.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 |
15 | g.43252886A>G | CA490131526 | TGM5 | c.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 | |
15 | g.43252886A>T | CA392099632 | TGM5 | c.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 |
15 | g.43252887T>A | CA392099635 | TGM5 | c.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 | |
15 | g.43252887T>C | CA392099638 | TGM5 | c.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 |
15 | g.43252887T>G | CA392099640 | TGM5 | c.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 | |
15 | g.43252888T>A | CA392099643 | TGM5 | c.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 | |
15 | g.43252888T>C | CA392099646 | TGM5 | c.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 | |
15 | g.43252888T>G | CA392099649 | TGM5 | c.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 | |
15 | g.43252889C>A | CA7521224 | TGM5 | c.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 |
15 | g.43252889C= | CA2173102669 | TGM5 | c.732G= (p.Glu244=) n.201G= c.486G= (p.Glu162=) c.729G= (p.Glu243=) c.483G= (p.Glu161=) c.735G= (p.Glu245=) n.906G= | |
15 | g.43252889C>G | CA392099653 | TGM5 | c.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 | |
15 | g.43252889C>T | CA490131529 | TGM5 | c.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 | |
15 | g.43252890T>A | CA392099668 | TGM5 | c.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 | |
15 | g.43252890T>C | CA392099660 | TGM5 | c.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 | |
15 | g.43252890T>G | CA392099666 | TGM5 | c.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 | |
15 | g.43252891C>A | CA392099671 | TGM5 | c.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 | |
15 | g.43252891C>G | CA392099673 | TGM5 | c.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 | |
15 | g.43252891C>T | CA392099677 | TGM5 | c.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 | |
15 | g.43252892A>C | CA392099683 | TGM5 | c.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 | |
15 | g.43252892A>G | CA490131533 | TGM5 | c.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 | |
15 | g.43252892A>T | CA392099685 | TGM5 | c.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 | |
15 | g.43252893C>A | CA392099691 | TGM5 | c.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 | |
15 | g.43252893C= | CA2173102670 | TGM5 | c.728G= (p.Ser243=) n.197G= c.482G= (p.Ser161=) c.725G= (p.Ser242=) c.479G= (p.Ser160=) c.731G= (p.Ser244=) n.902G= | |
15 | g.43252893C>G | CA7521225 | TGM5 | c.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 |
15 | g.43252893C>T | CA392099696 | TGM5 | c.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 |
15 | g.43252894T>A | CA392099702 | TGM5 | c.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 | |
15 | g.43252894T>C | CA392099705 | TGM5 | c.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 | |
15 | g.43252894T>G | CA392099708 | TGM5 | c.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 | |
15 | g.43252895C>A | CA392099717 | TGM5 | c.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 | |
15 | g.43252895C>G | CA392099715 | TGM5 | c.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 | |
15 | g.43252895C>T | CA392099711 | TGM5 | c.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 |
15 | g.43252896C>A | CA392099721 | TGM5 | c.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 | |
15 | g.43252896C>G | CA392099728 | TGM5 | c.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 | |
15 | g.43252896C>T | CA392099725 | TGM5 | c.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 |