| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.70033341del | CA2579632540 | EDA | c.794-57del (n.794-57del) c.398-57del (n.398-57del) c.794-66del (n.794-66del) | |
| X | g.70033341T>C | CA657722328 | EDA | c.794-57T>C (n.794-57T>C) c.398-57T>C (n.398-57T>C) c.794-66T>C (n.794-66T>C) | COSMIC |
| X | g.70033341T>G | CA2579632541 | EDA | c.794-57T>G (n.794-57T>G) c.398-57T>G (n.398-57T>G) c.794-66T>G (n.794-66T>G) | |
| X | g.70033342C>A | CA2693980090 | EDA | c.794-56C>A (n.794-56C>A) c.398-56C>A (n.398-56C>A) c.794-65C>A (n.794-65C>A) | gnomAD v4 |
| X | g.70033344G>A | CA2579632542 | EDA | c.794-54G>A (n.794-54G>A) c.398-54G>A (n.398-54G>A) c.794-63G>A (n.794-63G>A) | |
| X | g.70033346T>G | CA330952589 | EDA | c.794-52T>G (n.794-52T>G) c.398-52T>G (n.398-52T>G) c.794-61T>G (n.794-61T>G) | dbSNP |
| X | g.70033346T= | CA2435981269 | EDA | c.794-52T= (n.794-52T=) c.398-52T= (n.398-52T=) c.794-61T= (n.794-61T=) | |
| X | g.70033347G>T | CA2693980091 | EDA | c.794-51G>T (n.794-51G>T) c.398-51G>T (n.398-51G>T) c.794-60G>T (n.794-60G>T) | gnomAD v4 |
| X | g.70033348_70033350delinsCCT | CA2435981270 | EDA | c.794-50_794-48delinsCCT (n.794-50_794-48delinsCCT) c.398-50_398-48delinsCCT (n.398-50_398-48delinsCCT) c.794-59_794-57delinsCCT (n.794-59_794-57delinsCCT) | |
| X | g.70033350_70033351del | CA642457221 | EDA | c.794-48_794-47del (n.794-48_794-47del) c.398-48_398-47del (n.398-48_398-47del) c.794-57_794-56del (n.794-57_794-56del) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70033350T>C | CA2435981272 | EDA | c.794-48T>C (n.794-48T>C) c.398-48T>C (n.398-48T>C) c.794-57T>C (n.794-57T>C) | dbSNP |
| X | g.70033350T= | CA2435981271 | EDA | c.794-48T= (n.794-48T=) c.398-48T= (n.398-48T=) c.794-57T= (n.794-57T=) | |
| X | g.70033351C= | CA2435981273 | EDA | c.794-47C= (n.794-47C=) c.398-47C= (n.398-47C=) c.794-56C= (n.794-56C=) | |
| X | g.70033351C>G | CA2693980094 | EDA | c.794-47C>G (n.794-47C>G) c.398-47C>G (n.398-47C>G) c.794-56C>G (n.794-56C>G) | gnomAD v4 |
| X | g.70033351C>T | CA10439007 | EDA | c.794-47C>T (n.794-47C>T) c.398-47C>T (n.398-47C>T) c.794-56C>T (n.794-56C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70033352G>A | CA10439008 | EDA | c.794-46G>A (n.794-46G>A) c.398-46G>A (n.398-46G>A) c.794-55G>A (n.794-55G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70033352G= | CA2435981274 | EDA | c.794-46G= (n.794-46G=) c.398-46G= (n.398-46G=) c.794-55G= (n.794-55G=) | |
| X | g.70033352G>T | CA330952590 | EDA | c.794-46G>T (n.794-46G>T) c.398-46G>T (n.398-46G>T) c.794-55G>T (n.794-55G>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70033356A= | CA2435981275 | EDA | c.794-42A= (n.794-42A=) c.398-42A= (n.398-42A=) c.794-51A= (n.794-51A=) | |
| X | g.70033356A>C | CA2435981276 | EDA | c.794-42A>C (n.794-42A>C) c.398-42A>C (n.398-42A>C) c.794-51A>C (n.794-51A>C) | dbSNP |
| X | g.70033361G>A | CA2738703999 | EDA | c.794-37G>A (n.794-37G>A) c.398-37G>A (n.398-37G>A) c.794-46G>A (n.794-46G>A) | dbSNP |
| X | g.70033365T>A | CA2579632543 | EDA | c.794-33T>A (n.794-33T>A) c.398-33T>A (n.398-33T>A) c.794-42T>A (n.794-42T>A) | |
| X | g.70033365T>C | CA642457245 | EDA | c.794-33T>C (n.794-33T>C) c.398-33T>C (n.398-33T>C) c.794-42T>C (n.794-42T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70033365T= | CA2435981277 | EDA | c.794-33T= (n.794-33T=) c.398-33T= (n.398-33T=) c.794-42T= (n.794-42T=) | |
| X | g.70033366G>A | CA2693980103 | EDA | c.794-32G>A (n.794-32G>A) c.398-32G>A (n.398-32G>A) c.794-41G>A (n.794-41G>A) | gnomAD v4 |
| X | g.70033369del | CA2693980104 | EDA | c.794-29del (n.794-29del) c.398-29del (n.398-29del) c.794-38del (n.794-38del) | gnomAD v4 |
| X | g.70033370T>C | CA2693980105 | EDA | c.794-28T>C (n.794-28T>C) c.398-28T>C (n.398-28T>C) c.794-37T>C (n.794-37T>C) | gnomAD v4 |
| X | g.70033371G>A | CA2579632544 | EDA | c.794-27G>A (n.794-27G>A) c.398-27G>A (n.398-27G>A) c.794-36G>A (n.794-36G>A) | |
| X | g.70033373G>A | CA2693980107 | EDA | c.794-25G>A (n.794-25G>A) c.398-25G>A (n.398-25G>A) c.794-34G>A (n.794-34G>A) | gnomAD v4 |
| X | g.70033373G= | CA2435981278 | EDA | c.794-25G= (n.794-25G=) c.398-25G= (n.398-25G=) c.794-34G= (n.794-34G=) | |
| X | g.70033373G>T | CA10439009 | EDA | c.794-25G>T (n.794-25G>T) c.398-25G>T (n.398-25G>T) c.794-34G>T (n.794-34G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.70033375G>A | CA1134050720 | EDA | c.794-23G>A (n.794-23G>A) c.398-23G>A (n.398-23G>A) c.794-32G>A (n.794-32G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.70033375G= | CA2435981279 | EDA | c.794-23G= (n.794-23G=) c.398-23G= (n.398-23G=) c.794-32G= (n.794-32G=) | |
| X | g.70033378T>C | CA2505571154 | EDA | c.794-20T>C (n.794-20T>C) c.398-20T>C (n.398-20T>C) c.794-29T>C (n.794-29T>C) | |
| X | g.70033379del | CA2579632545 | EDA | c.794-19del (n.794-19del) c.398-19del (n.398-19del) c.794-28del (n.794-28del) | |
| X | g.70033379G>T | CA2693980111 | EDA | c.794-19G>T (n.794-19G>T) c.398-19G>T (n.398-19G>T) c.794-28G>T (n.794-28G>T) | gnomAD v4 |
| X | g.70033381C>T | CA2693980114 | EDA | c.794-17C>T (n.794-17C>T) c.398-17C>T (n.398-17C>T) c.794-26C>T (n.794-26C>T) | gnomAD v4 |
| X | g.70033381_70033384delinsCCTT | CA2435981280 | EDA | c.794-17_794-14delinsCCTT (n.794-17_794-14delinsCCTT) c.398-17_398-14delinsCCTT (n.398-17_398-14delinsCCTT) c.794-26_794-23delinsCCTT (n.794-26_794-23delinsCCTT) | |
| X | g.70033382C>G | CA2508487627 | EDA | c.794-16C>G (n.794-16C>G) c.398-16C>G (n.398-16C>G) c.794-25C>G (n.794-25C>G) | |
| X | g.70033382C>T | CA2693980117 | EDA | c.794-16C>T (n.794-16C>T) c.398-16C>T (n.398-16C>T) c.794-25C>T (n.794-25C>T) | gnomAD v4 |
| X | g.70033384_70033386del | CA10439010 | EDA | c.794-14_794-12del (n.794-14_794-12del) c.398-14_398-12del (n.398-14_398-12del) c.794-23_794-21del (n.794-23_794-21del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70033388_70033389del | CA2579632546 | EDA | c.794-10_794-9del (n.794-10_794-9del) c.398-10_398-9del (n.398-10_398-9del) c.794-19_794-18del (n.794-19_794-18del) | |
| X | g.70033385C>A | CA2579632547 | EDA | c.794-13C>A (n.794-13C>A) c.398-13C>A (n.398-13C>A) c.794-22C>A (n.794-22C>A) | |
| X | g.70033385C= | CA2435981281 | EDA | c.794-13C= (n.794-13C=) c.398-13C= (n.398-13C=) c.794-22C= (n.794-22C=) | |
| X | g.70033385C>G | CA642457251 | EDA | c.794-13C>G (n.794-13C>G) c.398-13C>G (n.398-13C>G) c.794-22C>G (n.794-22C>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70033385C>T | CA657722330 | EDA | c.794-13C>T (n.794-13C>T) c.398-13C>T (n.398-13C>T) c.794-22C>T (n.794-22C>T) | COSMIC |
| X | g.70033387C>G | CA2579632548 | EDA | c.794-11C>G (n.794-11C>G) c.398-11C>G (n.398-11C>G) c.794-20C>G (n.794-20C>G) | |
| X | g.70033387C>T | CA2499226815 | EDA | c.794-11C>T (n.794-11C>T) c.398-11C>T (n.398-11C>T) c.794-20C>T (n.794-20C>T) | ClinVar dbSNP |
| X | g.70033389C>A | CA2579632549 | EDA | c.794-9C>A (n.794-9C>A) c.398-9C>A (n.398-9C>A) c.794-18C>A (n.794-18C>A) | |
| X | g.70033389C= | CA2435981282 | EDA | c.794-9C= (n.794-9C=) c.398-9C= (n.398-9C=) c.794-18C= (n.794-18C=) | |
| X | g.70033389C>T | CA10439011 | EDA | c.794-9C>T (n.794-9C>T) c.398-9C>T (n.398-9C>T) c.794-18C>T (n.794-18C>T) | dbSNP ExAC gnomAD v2 |
| X | g.70033390A>G | CA2579632550 | EDA | c.794-8A>G (n.794-8A>G) c.398-8A>G (n.398-8A>G) c.794-17A>G (n.794-17A>G) | |
| X | g.70033391T>C | CA2739273562 | EDA | c.794-7T>C (n.794-7T>C) c.398-7T>C (n.398-7T>C) c.794-16T>C (n.794-16T>C) | ClinVar |
| X | g.70033393C>T | CA2693980122 | EDA | c.794-5C>T (n.794-5C>T) c.398-5C>T (n.398-5C>T) c.794-14C>T (n.794-14C>T) | gnomAD v4 |
| X | g.70033396A>C | CA413448749 | EDA | c.794-2A>C (n.794-2A>C) c.398-2A>C (n.398-2A>C) c.794-11A>C (n.794-11A>C) | |
| X | g.70033396A>G | CA413448750 | EDA | c.794-2A>G (n.794-2A>G) c.398-2A>G (n.398-2A>G) c.794-11A>G (n.794-11A>G) | |
| X | g.70033396A>T | CA413448751 | EDA | c.794-2A>T (n.794-2A>T) c.398-2A>T (n.398-2A>T) c.794-11A>T (n.794-11A>T) | |
| X | g.70033397G>A | CA413448752 | EDA | c.794-1G>A (n.794-1G>A) c.398-1G>A (n.398-1G>A) c.794-10G>A (n.794-10G>A) | ClinVar dbSNP |
| X | g.70033397G>C | CA413448753 | EDA | c.794-1G>C (n.794-1G>C) c.398-1G>C (n.398-1G>C) c.794-10G>C (n.794-10G>C) | |
| X | g.70033397G>T | CA413448754 | EDA | c.794-1G>T (n.794-1G>T) c.398-1G>T (n.398-1G>T) c.794-10G>T (n.794-10G>T) | |
| X | g.70033398A= | CA2435981283 | EDA | c.794A= (p.Asp265=) c.398A= (p.Asp133=) c.794-9A= (n.794-9A=) | |
| X | g.70033398A>C | CA413448756 | EDA | c.794A>C (p.Asp265Ala) c.398A>C (p.Asp133Ala) c.794-9A>C (n.794-9A>C) | ClinVar |
| X | g.70033398A>G | CA184075 | EDA | c.794A>G (p.Asp265Gly) c.398A>G (p.Asp133Gly) c.794-9A>G (n.794-9A>G) | ClinVar dbSNP |
| X | g.70033398A>T | CA413448755 | EDA | c.794A>T (p.Asp265Val) c.398A>T (p.Asp133Val) c.794-9A>T (n.794-9A>T) | |
| X | g.70033399_70033400insTTAT | CA2695234453 | EDA | c.795_796insTTAT (p.Gly268PhefsTer7) c.399_400insTTAT (p.Gly136PhefsTer?) c.794-8_794-7insTTAT (n.794-8_794-7insTTAT) c.399_400insTTAT (p.Gly136PhefsTer7) | |
| X | g.70033399T>A | CA413448757 | EDA | c.795T>A (p.Asp265Glu) c.399T>A (p.Asp133Glu) c.794-8T>A (n.794-8T>A) | |
| X | g.70033399T>C | CA517013807 | EDA | c.795T>C (p.Asp265=) c.399T>C (p.Asp133=) c.794-8T>C (n.794-8T>C) | |
| X | g.70033399T>G | CA413448758 | EDA | c.795T>G (p.Asp265Glu) c.399T>G (p.Asp133Glu) c.794-8T>G (n.794-8T>G) | |
| X | g.70033400C>A | CA413448759 | EDA | c.796C>A (p.Leu266Ile) c.400C>A (p.Leu134Ile) c.794-7C>A (n.794-7C>A) | |
| X | g.70033400C>G | CA413448760 | EDA | c.796C>G (p.Leu266Val) c.400C>G (p.Leu134Val) c.794-7C>G (n.794-7C>G) | |
| X | g.70033400C>T | CA413448761 | EDA | c.796C>T (p.Leu266Phe) c.400C>T (p.Leu134Phe) c.794-7C>T (n.794-7C>T) | ClinVar dbSNP |
| X | g.70033401T>A | CA413448762 | EDA | c.797T>A (p.Leu266His) c.401T>A (p.Leu134His) c.794-6T>A (n.794-6T>A) | |
| X | g.70033401T>C | CA330952591 | EDA | c.797T>C (p.Leu266Pro) c.401T>C (p.Leu134Pro) c.794-6T>C (n.794-6T>C) | dbSNP |
| X | g.70033401T>G | CA413448763 | EDA | c.797T>G (p.Leu266Arg) c.401T>G (p.Leu134Arg) c.794-6T>G (n.794-6T>G) | |
| X | g.70033401T= | CA2435981284 | EDA | c.797T= (p.Leu266=) c.401T= (p.Leu134=) c.794-6T= (n.794-6T=) | |
| X | g.70033402T>A | CA517013815 | EDA | c.798T>A (p.Leu266=) c.402T>A (p.Leu134=) c.794-5T>A (n.794-5T>A) | |
| X | g.70033402T>C | CA517013818 | EDA | c.798T>C (p.Leu266=) c.402T>C (p.Leu134=) c.794-5T>C (n.794-5T>C) | ClinVar dbSNP |
| X | g.70033402T>G | CA517013817 | EDA | c.798T>G (p.Leu266=) c.402T>G (p.Leu134=) c.794-5T>G (n.794-5T>G) | |
| X | g.70033403T>A | CA413448764 | EDA | c.799T>A (p.Ser267Thr) c.403T>A (p.Ser135Thr) c.794-4T>A (n.794-4T>A) | |
| X | g.70033403T>C | CA413448765 | EDA | c.799T>C (p.Ser267Pro) c.403T>C (p.Ser135Pro) c.794-4T>C (n.794-4T>C) | |
| X | g.70033403T>G | CA413448766 | EDA | c.799T>G (p.Ser267Ala) c.403T>G (p.Ser135Ala) c.794-4T>G (n.794-4T>G) | |
| X | g.70033404C>A | CA413448769 | EDA | c.800C>A (p.Ser267Ter) c.404C>A (p.Ser135Ter) c.794-3C>A (n.794-3C>A) | |
| X | g.70033404C>G | CA413448768 | EDA | c.800C>G (p.Ser267Ter) c.404C>G (p.Ser135Ter) c.794-3C>G (n.794-3C>G) | ClinVar dbSNP |
| X | g.70033404C>T | CA413448767 | EDA | c.800C>T (p.Ser267Leu) c.404C>T (p.Ser135Leu) c.794-3C>T (n.794-3C>T) | |
| X | g.70033405A>C | CA413448770 | EDA | c.801A>C (p.Ser267=) c.405A>C (p.Ser135=) c.794-2A>C (n.794-2A>C) | |
| X | g.70033405A>G | CA413448771 | EDA | c.801A>G (p.Ser267=) c.405A>G (p.Ser135=) c.794-2A>G (n.794-2A>G) | ClinVar dbSNP |
| X | g.70033405A>T | CA413448772 | EDA | c.801A>T (p.Ser267=) c.405A>T (p.Ser135=) c.794-2A>T (n.794-2A>T) | |
| X | g.70033406G>A | CA413448773 | EDA | c.802G>A (p.Gly268Ser) c.406G>A (p.Gly136Ser) c.794-1G>A (n.794-1G>A) | |
| X | g.70033406G>C | CA413448774 | EDA | c.802G>C (p.Gly268Arg) c.406G>C (p.Gly136Arg) c.794-1G>C (n.794-1G>C) | |
| X | g.70033406G>T | CA413448775 | EDA | c.802G>T (p.Gly268Cys) c.406G>T (p.Gly136Cys) c.794-1G>T (n.794-1G>T) | |
| X | g.70033407G>A | CA10439012 | EDA | c.803G>A (p.Gly268Asp) c.407G>A (p.Gly136Asp) c.794G>A (p.Gly265Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.70033407G>C | CA413448776 | EDA | c.803G>C (p.Gly268Ala) c.407G>C (p.Gly136Ala) c.794G>C (p.Gly265Ala) | |
| X | g.70033407G= | CA2435981285 | EDA | c.803G= (p.Gly268=) c.407G= (p.Gly136=) c.794G= (p.Gly265=) | |
| X | g.70033407G>T | CA413448777 | EDA | c.803G>T (p.Gly268Val) c.407G>T (p.Gly136Val) c.794G>T (p.Gly265Val) | ClinVar |
| X | g.70033408T>A | CA517013844 | EDA | c.804T>A (p.Gly268=) c.408T>A (p.Gly136=) c.795T>A (p.Gly265=) | |
| X | g.70033408T>C | CA10439013 | EDA | c.804T>C (p.Gly268=) c.408T>C (p.Gly136=) c.795T>C (p.Gly265=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70033408T>G | CA517013847 | EDA | c.804T>G (p.Gly268=) c.408T>G (p.Gly136=) c.795T>G (p.Gly265=) | |
| X | g.70033408T= | CA2435981286 | EDA | c.804T= (p.Gly268=) c.408T= (p.Gly136=) c.795T= (p.Gly265=) | |
| X | g.70033409G>A | CA413448778 | EDA | c.805G>A (p.Gly269Arg) c.409G>A c.796G>A (p.Gly266Arg) c.409G>A (p.Gly137Arg) | ClinVar |
| X | g.70033409G>C | CA413448779 | EDA | c.805G>C (p.Gly269Arg) c.409G>C c.796G>C (p.Gly266Arg) c.409G>C (p.Gly137Arg) | |
| X | g.70033409G>T | CA413448780 | EDA | c.805G>T (p.Gly269Ter) c.409G>T c.796G>T (p.Gly266Ter) c.409G>T (p.Gly137Ter) | |
| X | g.70033410G>A | CA413448782 | EDA | c.806G>A (p.Gly269Glu) c.410G>A c.797G>A (p.Gly266Glu) c.410G>A (p.Gly137Glu) | |
| X | g.70033410G>C | CA413448783 | EDA | c.806G>C (p.Gly269Ala) c.410G>C c.797G>C (p.Gly266Ala) c.410G>C (p.Gly137Ala) | |
| X | g.70033410G>T | CA413448781 | EDA | c.806G>T (p.Gly269Val) c.410G>T c.797G>T (p.Gly266Val) c.410G>T (p.Gly137Val) | |
| X | g.70033411A>C | CA517013855 | EDA | c.807A>C (p.Gly269=) c.798A>C (p.Gly266=) c.411A>C (p.Gly137=) | |
| X | g.70033411A>G | CA517013857 | EDA | c.807A>G (p.Gly269=) c.798A>G (p.Gly266=) c.411A>G (p.Gly137=) | |
| X | g.70033411A>T | CA517013859 | EDA | c.807A>T (p.Gly269=) c.798A>T (p.Gly266=) c.411A>T (p.Gly137=) | |
| X | g.70033412G>A | CA10439014 | EDA | c.808G>A (p.Val270Met) c.799G>A (p.Val267Met) c.412G>A (p.Val138Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70033412G>C | CA413448784 | EDA | c.808G>C (p.Val270Leu) c.799G>C (p.Val267Leu) c.412G>C (p.Val138Leu) | |
| X | g.70033412G= | CA2435981288 | EDA | c.808G= (p.Val270=) c.799G= (p.Val267=) c.412G= (p.Val138=) | |
| X | g.70033412G>T | CA413448785 | EDA | c.808G>T (p.Val270Leu) c.799G>T (p.Val267Leu) c.412G>T (p.Val138Leu) | |
| X | g.70033412_70033413delinsGT | CA2435981287 | EDA | c.808_809delinsGT (p.Val270=) c.799_800delinsGT (p.Val267=) c.412_413delinsGT (p.Val138=) | |
| X | g.70033413del | CA273143 | EDA | c.809del (p.Val270GlyfsTer10) c.800del (p.Val267GlyfsTer10) c.413del (p.Val138GlyfsTer10) | ClinVar dbSNP |
| X | g.70033413T>A | CA413448786 | EDA | c.809T>A (p.Val270Glu) c.800T>A (p.Val267Glu) c.413T>A (p.Val138Glu) | |
| X | g.70033413T>C | CA413448787 | EDA | c.809T>C (p.Val270Ala) c.800T>C (p.Val267Ala) c.413T>C (p.Val138Ala) | |
| X | g.70033413T>G | CA413448788 | EDA | c.809T>G (p.Val270Gly) c.800T>G (p.Val267Gly) c.413T>G (p.Val138Gly) | |
| X | g.70033414G>A | CA517013867 | EDA | c.810G>A (p.Val270=) c.801G>A (p.Val267=) c.414G>A (p.Val138=) | ClinVar |
| X | g.70033414G>C | CA517013868 | EDA | c.810G>C (p.Val270=) c.801G>C (p.Val267=) c.414G>C (p.Val138=) | gnomAD v4 |
| X | g.70033414G>T | CA517013870 | EDA | c.810G>T (p.Val270=) c.801G>T (p.Val267=) c.414G>T (p.Val138=) | |
| X | g.70033415C>A | CA413448789 | EDA | c.811C>A (p.Leu271Ile) c.802C>A (p.Leu268Ile) c.415C>A (p.Leu139Ile) | |
| X | g.70033415C>G | CA413448790 | EDA | c.811C>G (p.Leu271Val) c.802C>G (p.Leu268Val) c.415C>G (p.Leu139Val) | |
| X | g.70033415C>T | CA413448791 | EDA | c.811C>T (p.Leu271Phe) c.802C>T (p.Leu268Phe) c.415C>T (p.Leu139Phe) | |
| X | g.70033416T>A | CA413448792 | EDA | c.812T>A (p.Leu271His) c.803T>A (p.Leu268His) c.416T>A (p.Leu139His) | |
| X | g.70033416T>C | CA413448793 | EDA | c.812T>C (p.Leu271Pro) c.803T>C (p.Leu268Pro) c.416T>C (p.Leu139Pro) | |
| X | g.70033416T>G | CA413448794 | EDA | c.812T>G (p.Leu271Arg) c.803T>G (p.Leu268Arg) c.416T>G (p.Leu139Arg) | |
| X | g.70033417C>A | CA517013878 | EDA | c.813C>A (p.Leu271=) c.804C>A (p.Leu268=) c.417C>A (p.Leu139=) | |
| X | g.70033417C>G | CA517013880 | EDA | c.813C>G (p.Leu271=) c.804C>G (p.Leu268=) c.417C>G (p.Leu139=) | |
| X | g.70033417C>T | CA517013882 | EDA | c.813C>T (p.Leu271=) c.804C>T (p.Leu268=) c.417C>T (p.Leu139=) | gnomAD v4 COSMIC COSMIC |
| X | g.70033418A= | CA2435981289 | EDA | c.814A= (p.Asn272=) c.805A= (p.Asn269=) c.418A= (p.Asn140=) | |
| X | g.70033418A>C | CA413448796 | EDA | c.814A>C (p.Asn272His) c.805A>C (p.Asn269His) c.418A>C (p.Asn140His) | gnomAD v4 |
| X | g.70033418A>G | CA413448797 | EDA | c.814A>G (p.Asn272Asp) c.805A>G (p.Asn269Asp) c.418A>G (p.Asn140Asp) | ClinVar dbSNP |
| X | g.70033418A>T | CA413448795 | EDA | c.814A>T (p.Asn272Tyr) c.805A>T (p.Asn269Tyr) c.418A>T (p.Asn140Tyr) | |
| X | g.70033419A= | CA2435981290 | EDA | c.815A= (p.Asn272=) c.806A= (p.Asn269=) c.419A= (p.Asn140=) | |
| X | g.70033419A>C | CA413448798 | EDA | c.815A>C (p.Asn272Thr) c.806A>C (p.Asn269Thr) c.419A>C (p.Asn140Thr) | |
| X | g.70033419A>G | CA413448799 | EDA | c.815A>G (p.Asn272Ser) c.806A>G (p.Asn269Ser) c.419A>G (p.Asn140Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70033419A>T | CA413448800 | EDA | c.815A>T (p.Asn272Ile) c.806A>T (p.Asn269Ile) c.419A>T (p.Asn140Ile) | |
| X | g.70033420T>A | CA413448801 | EDA | c.816T>A (p.Asn272Lys) c.807T>A (p.Asn269Lys) c.420T>A (p.Asn140Lys) | |
| X | g.70033420T>C | CA517013888 | EDA | c.816T>C (p.Asn272=) c.807T>C (p.Asn269=) c.420T>C (p.Asn140=) | |
| X | g.70033420T>G | CA413448802 | EDA | c.816T>G (p.Asn272Lys) c.807T>G (p.Asn269Lys) c.420T>G (p.Asn140Lys) | |
| X | g.70033421G>A | CA413448805 | EDA | c.817G>A (p.Asp273Asn) c.808G>A (p.Asp270Asn) c.421G>A (p.Asp141Asn) | |
| X | g.70033421G>C | CA413448803 | EDA | c.817G>C (p.Asp273His) c.808G>C (p.Asp270His) c.421G>C (p.Asp141His) | |
| X | g.70033421G>T | CA413448804 | EDA | c.817G>T (p.Asp273Tyr) c.808G>T (p.Asp270Tyr) c.421G>T (p.Asp141Tyr) | COSMIC COSMIC |
| X | g.70033422A>C | CA413448806 | EDA | c.818A>C (p.Asp273Ala) c.809A>C (p.Asp270Ala) c.422A>C (p.Asp141Ala) | |
| X | g.70033422A>G | CA413448807 | EDA | c.818A>G (p.Asp273Gly) c.809A>G (p.Asp270Gly) c.422A>G (p.Asp141Gly) | |
| X | g.70033422A>T | CA413448808 | EDA | c.818A>T (p.Asp273Val) c.809A>T (p.Asp270Val) c.422A>T (p.Asp141Val) | |
| X | g.70033423C>A | CA413448809 | EDA | c.819C>A (p.Asp273Glu) c.810C>A (p.Asp270Glu) c.423C>A (p.Asp141Glu) | |
| X | g.70033423C>G | CA413448810 | EDA | c.819C>G (p.Asp273Glu) c.810C>G (p.Asp270Glu) c.423C>G (p.Asp141Glu) | |
| X | g.70033423C>T | CA517013899 | EDA | c.819C>T (p.Asp273=) c.810C>T (p.Asp270=) c.423C>T (p.Asp141=) | |
| X | g.70033424T>A | CA413448813 | EDA | c.820T>A (p.Trp274Arg) c.811T>A (p.Trp271Arg) c.424T>A (p.Trp142Arg) | |
| X | g.70033424T>C | CA413448812 | EDA | c.820T>C (p.Trp274Arg) c.811T>C (p.Trp271Arg) c.424T>C (p.Trp142Arg) | ClinVar |
| X | g.70033424T>G | CA413448811 | EDA | c.820T>G (p.Trp274Gly) c.811T>G (p.Trp271Gly) c.424T>G (p.Trp142Gly) | |
| X | g.70033424_70033425delinsTG | CA2435981291 | EDA | c.820_821delinsTG (p.Trp274=) c.811_812delinsTG (p.Trp271=) c.424_425delinsTG (p.Trp142=) | |
| X | g.70033425G>A | CA413448814 | EDA | c.821G>A (p.Trp274Ter) c.812G>A (p.Trp271Ter) c.425G>A (p.Trp142Ter) | |
| X | g.70033425G>C | CA413448815 | EDA | c.821G>C (p.Trp274Ser) c.812G>C (p.Trp271Ser) c.425G>C (p.Trp142Ser) | |
| X | g.70033425G>T | CA413448816 | EDA | c.821G>T (p.Trp274Leu) c.812G>T (p.Trp271Leu) c.425G>T (p.Trp142Leu) | |
| X | g.70033426del | CA261507 | EDA | c.822del (p.Trp274CysfsTer6) c.813del (p.Trp271CysfsTer6) c.426del (p.Trp142CysfsTer6) | ClinVar dbSNP |
| X | g.70033426G>A | CA273144 | EDA | c.822G>A (p.Trp274Ter) c.813G>A (p.Trp271Ter) c.426G>A (p.Trp142Ter) | ClinVar dbSNP |
| X | g.70033426G>C | CA413448817 | EDA | c.822G>C (p.Trp274Cys) c.813G>C (p.Trp271Cys) c.426G>C (p.Trp142Cys) | |
| X | g.70033426G= | CA2435981292 | EDA | c.822G= (p.Trp274=) c.813G= (p.Trp271=) c.426G= (p.Trp142=) | |
| X | g.70033426G>T | CA261505 | EDA | c.822G>T (p.Trp274Cys) c.813G>T (p.Trp271Cys) c.426G>T (p.Trp142Cys) | ClinVar dbSNP |
| X | g.70033427T>A | CA413448818 | EDA | c.823T>A (p.Ser275Thr) c.814T>A (p.Ser272Thr) c.427T>A (p.Ser143Thr) | |
| X | g.70033427T>C | CA413448819 | EDA | c.823T>C (p.Ser275Pro) c.814T>C (p.Ser272Pro) c.427T>C (p.Ser143Pro) | |
| X | g.70033427T>G | CA413448820 | EDA | c.823T>G (p.Ser275Ala) c.814T>G (p.Ser272Ala) c.427T>G (p.Ser143Ala) | |
| X | g.70033428C>A | CA413448821 | EDA | c.824C>A (p.Ser275Tyr) c.815C>A (p.Ser272Tyr) c.428C>A (p.Ser143Tyr) | |
| X | g.70033428C>G | CA413448822 | EDA | c.824C>G (p.Ser275Cys) c.815C>G (p.Ser272Cys) c.428C>G (p.Ser143Cys) | |
| X | g.70033428C>T | CA413448823 | EDA | c.824C>T (p.Ser275Phe) c.815C>T (p.Ser272Phe) c.428C>T (p.Ser143Phe) | |
| X | g.70033429T>A | CA517013917 | EDA | c.825T>A (p.Ser275=) c.816T>A (p.Ser272=) c.429T>A (p.Ser143=) | |
| X | g.70033429T>C | CA517013918 | EDA | c.825T>C (p.Ser275=) c.816T>C (p.Ser272=) c.429T>C (p.Ser143=) | |
| X | g.70033429T>G | CA517013919 | EDA | c.825T>G (p.Ser275=) c.816T>G (p.Ser272=) c.429T>G (p.Ser143=) | |
| X | g.70033430C>A | CA413448824 | EDA | c.826C>A (p.Arg276Ser) c.817C>A (p.Arg273Ser) c.430C>A (p.Arg144Ser) | |
| X | g.70033430C= | CA2435981293 | EDA | c.826C= (p.Arg276=) c.817C= (p.Arg273=) c.430C= (p.Arg144=) | |
| X | g.70033430C>G | CA413448825 | EDA | c.826C>G (p.Arg276Gly) c.817C>G (p.Arg273Gly) c.430C>G (p.Arg144Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.70033430C>T | CA260052 | EDA | c.826C>T (p.Arg276Cys) c.817C>T (p.Arg273Cys) c.430C>T (p.Arg144Cys) | ClinVar dbSNP |
| X | g.70033431G>A | CA413448826 | EDA | c.827G>A (p.Arg276His) c.818G>A (p.Arg273His) c.431G>A (p.Arg144His) | dbSNP gnomAD v4 |
| X | g.70033431G>C | CA413448827 | EDA | c.827G>C (p.Arg276Pro) c.818G>C (p.Arg273Pro) c.431G>C (p.Arg144Pro) | ClinVar |
| X | g.70033431G= | CA2435981294 | EDA | c.827G= (p.Arg276=) c.818G= (p.Arg273=) c.431G= (p.Arg144=) | |
| X | g.70033431G>T | CA16043276 | EDA | c.827G>T (p.Arg276Leu) c.818G>T (p.Arg273Leu) c.431G>T (p.Arg144Leu) | ClinVar dbSNP |
| X | g.70033432C>A | CA517013930 | EDA | c.828C>A (p.Arg276=) c.819C>A (p.Arg273=) c.432C>A (p.Arg144=) | |
| X | g.70033432C>G | CA517013927 | EDA | c.828C>G (p.Arg276=) c.819C>G (p.Arg273=) c.432C>G (p.Arg144=) | |
| X | g.70033432C>T | CA517013926 | EDA | c.828C>T (p.Arg276=) c.819C>T (p.Arg273=) c.432C>T (p.Arg144=) | |
| X | g.70033433A= | CA2435981295 | EDA | c.829A= (p.Ile277=) c.820A= (p.Ile274=) c.433A= (p.Ile145=) | |
| X | g.70033433A>C | CA413448828 | EDA | c.829A>C (p.Ile277Leu) c.820A>C (p.Ile274Leu) c.433A>C (p.Ile145Leu) | gnomAD v4 |
| X | g.70033433A>G | CA413448829 | EDA | c.829A>G (p.Ile277Val) c.820A>G (p.Ile274Val) c.433A>G (p.Ile145Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70033433A>T | CA413448830 | EDA | c.829A>T (p.Ile277Phe) c.820A>T (p.Ile274Phe) c.433A>T (p.Ile145Phe) | |
| X | g.70033434T>A | CA413448831 | EDA | c.830T>A (p.Ile277Asn) c.821T>A (p.Ile274Asn) c.434T>A (p.Ile145Asn) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70033434T>C | CA413448833 | EDA | c.830T>C (p.Ile277Thr) c.821T>C (p.Ile274Thr) c.434T>C (p.Ile145Thr) | |
| X | g.70033434T>G | CA413448832 | EDA | c.830T>G (p.Ile277Ser) c.821T>G (p.Ile274Ser) c.434T>G (p.Ile145Ser) | |
| X | g.70033434T= | CA2435981296 | EDA | c.830T= (p.Ile277=) c.821T= (p.Ile274=) c.434T= (p.Ile145=) | |
| X | g.70033435del | CA2695234454 | EDA | c.831del (p.Thr278LeufsTer2) c.822del (p.Thr275LeufsTer2) c.435del (p.Thr146LeufsTer2) | |
| X | g.70033435C>A | CA517013937 | EDA | c.831C>A (p.Ile277=) c.822C>A (p.Ile274=) c.435C>A (p.Ile145=) | |
| X | g.70033435C>G | CA413448834 | EDA | c.831C>G (p.Ile277Met) c.822C>G (p.Ile274Met) c.435C>G (p.Ile145Met) | |
| X | g.70033435C>T | CA517013941 | EDA | c.831C>T (p.Ile277=) c.822C>T (p.Ile274=) c.435C>T (p.Ile145=) | ClinVar |
| X | g.70033436A>C | CA413448835 | EDA | c.832A>C (p.Thr278Pro) c.823A>C (p.Thr275Pro) c.436A>C (p.Thr146Pro) | |
| X | g.70033436A>G | CA413448836 | EDA | c.832A>G (p.Thr278Ala) c.823A>G (p.Thr275Ala) c.436A>G (p.Thr146Ala) | gnomAD v4 |
| X | g.70033436A>T | CA413448837 | EDA | c.832A>T (p.Thr278Ser) c.823A>T (p.Thr275Ser) c.436A>T (p.Thr146Ser) | |
| X | g.70033437C>A | CA413448839 | EDA | c.833C>A (p.Thr278Asn) c.824C>A (p.Thr275Asn) c.437C>A (p.Thr146Asn) | |
| X | g.70033437C= | CA2435981297 | EDA | c.833C= (p.Thr278=) c.824C= (p.Thr275=) c.437C= (p.Thr146=) | |
| X | g.70033437C>G | CA10439015 | EDA | c.833C>G (p.Thr278Ser) c.824C>G (p.Thr275Ser) c.437C>G (p.Thr146Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70033437C>T | CA413448838 | EDA | c.833C>T (p.Thr278Ile) c.824C>T (p.Thr275Ile) c.437C>T (p.Thr146Ile) | |
| X | g.70033438T>A | CA517013951 | EDA | c.834T>A (p.Thr278=) c.825T>A (p.Thr275=) c.438T>A (p.Thr146=) | |
| X | g.70033438T>C | CA10439016 | EDA | c.834T>C (p.Thr278=) c.825T>C (p.Thr275=) c.438T>C (p.Thr146=) | dbSNP ExAC |
| X | g.70033438T>G | CA10439017 | EDA | c.834T>G (p.Thr278=) c.825T>G (p.Thr275=) c.438T>G (p.Thr146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70033438T= | CA2435981298 | EDA | c.834T= (p.Thr278=) c.825T= (p.Thr275=) c.438T= (p.Thr146=) | |
| X | g.70033439A>C | CA413448840 | EDA | c.835A>C (p.Met279Leu) c.826A>C (p.Met276Leu) c.439A>C (p.Met147Leu) | |
| X | g.70033439A>G | CA413448842 | EDA | c.835A>G (p.Met279Val) c.826A>G (p.Met276Val) c.439A>G (p.Met147Val) | gnomAD v4 |
| X | g.70033439A>T | CA413448841 | EDA | c.835A>T (p.Met279Leu) c.826A>T (p.Met276Leu) c.439A>T (p.Met147Leu) |