Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.120788677_120788757del | CA2695208538 | TSPAN12 | c.753_833del (p.Asp251_Leu278delinsGlu) c.732_812del (n.732_812del) c.678_758del (p.Asp226_Leu253delinsGlu) | |
7 | g.120788701T>A | CA369133457 | TSPAN12 | c.809A>T (p.His270Leu) c.788A>T (n.788A>T) c.734A>T (p.His245Leu) | |
7 | g.120788701T>C | CA369133459 | TSPAN12 | c.809A>G (p.His270Arg) c.788A>G (n.788A>G) c.734A>G (p.His245Arg) | |
7 | g.120788701T>G | CA369133461 | TSPAN12 | c.809A>C (p.His270Pro) c.788A>C (n.788A>C) c.734A>C (p.His245Pro) | gnomAD v4 |
7 | g.120788702G>A | CA369133463 | TSPAN12 | c.808C>T (p.His270Tyr) c.787C>T (n.787C>T) c.733C>T (p.His245Tyr) | dbSNP |
7 | g.120788702G>C | CA369133464 | TSPAN12 | c.808C>G (p.His270Asp) c.787C>G (n.787C>G) c.733C>G (p.His245Asp) | |
7 | g.120788702G= | CA1738876261 | TSPAN12 | c.808C= (p.His270=) c.787C= (n.787C=) c.733C= (p.His245=) | |
7 | g.120788702G>T | CA369133466 | TSPAN12 | c.808C>A (p.His270Asn) c.787C>A (n.787C>A) c.733C>A (p.His245Asn) | |
7 | g.120788703C>A | CA369133468 | TSPAN12 | c.807G>T (p.Gln269His) c.786G>T (n.786G>T) c.732G>T (p.Gln244His) | ClinVar dbSNP |
7 | g.120788703C= | CA1738876269 | TSPAN12 | c.807G= (p.Gln269=) c.786G= (n.786G=) c.732G= (p.Gln244=) | |
7 | g.120788703C>G | CA369133470 | TSPAN12 | c.807G>C (p.Gln269His) c.786G>C (n.786G>C) c.732G>C (p.Gln244His) | |
7 | g.120788703C>T | CA457393535 | TSPAN12 | c.807G>A (p.Gln269=) c.786G>A (n.786G>A) c.732G>A (p.Gln244=) | |
7 | g.120788704T>A | CA369133481 | TSPAN12 | c.806A>T (p.Gln269Leu) c.785A>T (n.785A>T) c.731A>T (p.Gln244Leu) | |
7 | g.120788704T>C | CA369133480 | TSPAN12 | c.806A>G (p.Gln269Arg) c.785A>G (n.785A>G) c.731A>G (p.Gln244Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.120788704T>G | CA369133473 | TSPAN12 | c.806A>C (p.Gln269Pro) c.785A>C (n.785A>C) c.731A>C (p.Gln244Pro) | |
7 | g.120788704T= | CA1738876276 | TSPAN12 | c.806A= (p.Gln269=) c.785A= (n.785A=) c.731A= (p.Gln244=) | |
7 | g.120788704_120788706delinsTGA | CA1738876275 | TSPAN12 | c.804_806delinsTCA (p.Ser268=) c.783_785delinsTCA (n.783_785delinsTCA) c.729_731delinsTCA (p.Ser243=) | |
7 | g.120788705G>A | CA369133482 | TSPAN12 | c.805C>T (p.Gln269Ter) c.784C>T (n.784C>T) c.730C>T (p.Gln244Ter) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.120788705G>C | CA369133484 | TSPAN12 | c.805C>G (p.Gln269Glu) c.784C>G (n.784C>G) c.730C>G (p.Gln244Glu) | |
7 | g.120788705G= | CA1738876284 | TSPAN12 | c.805C= (p.Gln269=) c.784C= (n.784C=) c.730C= (p.Gln244=) | |
7 | g.120788705G>T | CA4453798 | TSPAN12 | c.805C>A (p.Gln269Lys) c.784C>A (n.784C>A) c.730C>A (p.Gln244Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.120788708_120788709del | CA577561365 | TSPAN12 | c.804_805del (p.Gln269AlafsTer19) c.783_784del (n.783_784del) c.729_730del (p.Gln244AlafsTer19) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.120788706A>C | CA457393536 | TSPAN12 | c.804T>G (p.Ser268=) c.783T>G (n.783T>G) c.729T>G (p.Ser243=) | |
7 | g.120788706A>G | CA457393537 | TSPAN12 | c.804T>C (p.Ser268=) c.783T>C (n.783T>C) c.729T>C (p.Ser243=) | |
7 | g.120788706A>T | CA457393538 | TSPAN12 | c.804T>A (p.Ser268=) c.783T>A (n.783T>A) c.729T>A (p.Ser243=) | |
7 | g.120788707G>A | CA369133486 | TSPAN12 | c.803C>T (p.Ser268Phe) c.782C>T (n.782C>T) c.728C>T (p.Ser243Phe) | COSMIC |
7 | g.120788707G>C | CA369133488 | TSPAN12 | c.803C>G (p.Ser268Cys) c.782C>G (n.782C>G) c.728C>G (p.Ser243Cys) | gnomAD v4 |
7 | g.120788707G>T | CA369133490 | TSPAN12 | c.803C>A (p.Ser268Tyr) c.782C>A (n.782C>A) c.728C>A (p.Ser243Tyr) | |
7 | g.120788708A>C | CA369133496 | TSPAN12 | c.802T>G (p.Ser268Ala) c.781T>G (n.781T>G) c.727T>G (p.Ser243Ala) | |
7 | g.120788708A>G | CA369133493 | TSPAN12 | c.802T>C (p.Ser268Pro) c.781T>C (n.781T>C) c.727T>C (p.Ser243Pro) | |
7 | g.120788708A>T | CA369133494 | TSPAN12 | c.802T>A (p.Ser268Thr) c.781T>A (n.781T>A) c.727T>A (p.Ser243Thr) | |
7 | g.120788709G>A | CA457393539 | TSPAN12 | c.801C>T (p.Asn267=) c.780C>T (n.780C>T) c.726C>T (p.Asn242=) | |
7 | g.120788709G>C | CA4453799 | TSPAN12 | c.801C>G (p.Asn267Lys) c.780C>G (n.780C>G) c.726C>G (p.Asn242Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.120788709G= | CA1738876290 | TSPAN12 | c.801C= (p.Asn267=) c.780C= (n.780C=) c.726C= (p.Asn242=) | |
7 | g.120788709G>T | CA369133499 | TSPAN12 | c.801C>A (p.Asn267Lys) c.780C>A (n.780C>A) c.726C>A (p.Asn242Lys) | |
7 | g.120788710T>A | CA369133501 | TSPAN12 | c.800A>T (p.Asn267Ile) c.779A>T (n.779A>T) c.725A>T (p.Asn242Ile) | |
7 | g.120788710T>C | CA4453800 | TSPAN12 | c.800A>G (p.Asn267Ser) c.779A>G (n.779A>G) c.725A>G (p.Asn242Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.120788710T>G | CA369133504 | TSPAN12 | c.800A>C (p.Asn267Thr) c.779A>C (n.779A>C) c.725A>C (p.Asn242Thr) | gnomAD v3 gnomAD v4 |
7 | g.120788710T= | CA1738876297 | TSPAN12 | c.800A= (p.Asn267=) c.779A= (n.779A=) c.725A= (p.Asn242=) | |
7 | g.120788711T>A | CA369133509 | TSPAN12 | c.799A>T (p.Asn267Tyr) c.778A>T (n.778A>T) c.724A>T (p.Asn242Tyr) | |
7 | g.120788711T>C | CA369133506 | TSPAN12 | c.799A>G (p.Asn267Asp) c.778A>G (n.778A>G) c.724A>G (p.Asn242Asp) | |
7 | g.120788711T>G | CA369133507 | TSPAN12 | c.799A>C (p.Asn267His) c.778A>C (n.778A>C) c.724A>C (p.Asn242His) | |
7 | g.120788712G>A | CA457393540 | TSPAN12 | c.798C>T (p.Asp266=) c.777C>T (n.777C>T) c.723C>T (p.Asp241=) | dbSNP |
7 | g.120788712G>C | CA369133510 | TSPAN12 | c.798C>G (p.Asp266Glu) c.777C>G (n.777C>G) c.723C>G (p.Asp241Glu) | |
7 | g.120788712G= | CA1738876303 | TSPAN12 | c.798C= (p.Asp266=) c.777C= (n.777C=) c.723C= (p.Asp241=) | |
7 | g.120788712G>T | CA369133511 | TSPAN12 | c.798C>A (p.Asp266Glu) c.777C>A (n.777C>A) c.723C>A (p.Asp241Glu) | |
7 | g.120788713T>A | CA369133514 | TSPAN12 | c.797A>T (p.Asp266Val) c.776A>T (n.776A>T) c.722A>T (p.Asp241Val) | |
7 | g.120788713T>C | CA369133516 | TSPAN12 | c.797A>G (p.Asp266Gly) c.776A>G (n.776A>G) c.722A>G (p.Asp241Gly) | |
7 | g.120788713T>G | CA369133518 | TSPAN12 | c.797A>C (p.Asp266Ala) c.776A>C (n.776A>C) c.722A>C (p.Asp241Ala) | |
7 | g.120788714C>A | CA369133521 | TSPAN12 | c.796G>T (p.Asp266Tyr) c.775G>T (n.775G>T) c.721G>T (p.Asp241Tyr) |