| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.135031283C>A | CA361028376 | PITX1 | c.395G>T (p.Arg132Leu) c.517G>T n.728G>T | |
| 5 | g.135031283C= | CA1584341646 | PITX1 | c.395G= (p.Arg132=) c.517G= n.728G= | |
| 5 | g.135031283C>G | CA361028377 | PITX1 | c.395G>C (p.Arg132Pro) c.517G>C n.728G>C | |
| 5 | g.135031283C>T | CA361028378 | PITX1 | c.395G>A (p.Arg132His) c.517G>A n.728G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031284G>A | CA3417635 | PITX1 | c.394C>T (p.Arg132Cys) c.516C>T n.727C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135031284G>C | CA361028379 | PITX1 | c.394C>G (p.Arg132Gly) c.516C>G n.727C>G | |
| 5 | g.135031284G= | CA1584341651 | PITX1 | c.394C= (p.Arg132=) c.516C= n.727C= | |
| 5 | g.135031284G>T | CA361028380 | PITX1 | c.394C>A (p.Arg132Ser) c.516C>A n.727C>A | |
| 5 | g.135031285C>A | CA446784533 | PITX1 | c.393G>T (p.Pro131=) c.515G>T n.726G>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135031285C= | CA1584341654 | PITX1 | c.393G= (p.Pro131=) c.515G= n.726G= | |
| 5 | g.135031285C>G | CA446784534 | PITX1 | c.393G>C (p.Pro131=) c.515G>C n.726G>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135031285C>T | CA3417636 | PITX1 | c.393G>A (p.Pro131=) c.515G>A n.726G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031288_135031292dup | CA446784532 | PITX1 | c.389_393dup (p.Arg132SerfsTer?) c.511_515dup n.722_726dup | |
| 5 | g.135031286G>A | CA3417637 | PITX1 | c.392C>T (p.Pro131Leu) c.514C>T n.725C>T c.392C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031286G>C | CA361028381 | PITX1 | c.392C>G (p.Pro131Arg) c.514C>G n.725C>G c.392C>G | |
| 5 | g.135031286G= | CA1584341658 | PITX1 | c.392C= (p.Pro131=) c.514C= n.725C= c.392C= | |
| 5 | g.135031286G>T | CA361028382 | PITX1 | c.392C>A (p.Pro131Gln) c.514C>A n.725C>A c.392C>A | |
| 5 | g.135031287G>A | CA361028383 | PITX1 | c.391C>T (p.Pro131Ser) c.513C>T n.724C>T c.391C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031287G>C | CA361028384 | PITX1 | c.391C>G (p.Pro131Ala) c.513C>G n.724C>G c.391C>G | |
| 5 | g.135031287G= | CA1584341661 | PITX1 | c.391C= (p.Pro131=) c.513C= n.724C= c.391C= | |
| 5 | g.135031287G>T | CA361028385 | PITX1 | c.391C>A (p.Pro131Thr) c.513C>A n.724C>A c.391C>A | |
| 5 | g.135031287_135031289delinsGCT | CA1584341662 | PITX1 | c.389_391delinsAGC (p.Glu130=) c.511_513delinsAGC n.722_724delinsAGC | |
| 5 | g.135031288C>A | CA361028386 | PITX1 | c.390G>T (p.Glu130Asp) c.512G>T n.723G>T | |
| 5 | g.135031288C>G | CA361028387 | PITX1 | c.390G>C (p.Glu130Asp) c.512G>C n.723G>C | |
| 5 | g.135031288C>T | CA446784535 | PITX1 | c.390G>A (p.Glu130=) c.512G>A n.723G>A | |
| 5 | g.135031289_135031290del | CA1081832679 | PITX1 | c.389_390del (p.Glu130AlafsTer16) c.511_512del n.722_723del c.389_390del (p.Glu130AlafsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135031289T>A | CA361028388 | PITX1 | c.389A>T (p.Glu130Val) c.511A>T n.722A>T | |
| 5 | g.135031289T>C | CA361028390 | PITX1 | c.389A>G (p.Glu130Gly) c.511A>G n.722A>G | |
| 5 | g.135031289T>G | CA361028389 | PITX1 | c.389A>C (p.Glu130Ala) c.511A>C n.722A>C | |
| 5 | g.135031290C>A | CA361028391 | PITX1 | c.388G>T (p.Glu130Ter) c.510G>T n.721G>T | |
| 5 | g.135031290C= | CA1584341665 | PITX1 | c.388G= (p.Glu130=) c.510G= n.721G= | |
| 5 | g.135031290C>G | CA361028392 | PITX1 | c.388G>C (p.Glu130Gln) c.510G>C n.721G>C | |
| 5 | g.135031290C>T | CA118852 | PITX1 | c.388G>A (p.Glu130Lys) c.510G>A n.721G>A | ClinVar dbSNP gnomAD v4 |
| 5 | g.135031291G>A | CA3417638 | PITX1 | c.387C>T (p.Thr129=) c.509C>T n.720C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031291G>C | CA446784536 | PITX1 | c.387C>G (p.Thr129=) c.509C>G n.720C>G | |
| 5 | g.135031291G= | CA1584341670 | PITX1 | c.387C= (p.Thr129=) c.509C= n.720C= | |
| 5 | g.135031291G>T | CA446784537 | PITX1 | c.387C>A (p.Thr129=) c.509C>A n.720C>A | gnomAD v4 |
| 5 | g.135031292G>A | CA361028393 | PITX1 | c.386C>T (p.Thr129Ile) c.508C>T n.719C>T | |
| 5 | g.135031292G>C | CA361028395 | PITX1 | c.386C>G (p.Thr129Ser) c.508C>G n.719C>G | |
| 5 | g.135031292G>T | CA361028394 | PITX1 | c.386C>A (p.Thr129Asn) c.508C>A n.719C>A | |
| 5 | g.135031293T>A | CA361028396 | PITX1 | c.385A>T (p.Thr129Ser) c.507A>T n.718A>T | |
| 5 | g.135031293T>C | CA361028397 | PITX1 | c.385A>G (p.Thr129Ala) c.507A>G n.718A>G | |
| 5 | g.135031293T>G | CA361028398 | PITX1 | c.385A>C (p.Thr129Pro) c.507A>C n.718A>C | gnomAD v4 |
| 5 | g.135031294G>A | CA446784538 | PITX1 | c.384C>T (p.Leu128=) c.506C>T n.717C>T | dbSNP |
| 5 | g.135031294G>C | CA446784539 | PITX1 | c.384C>G (p.Leu128=) c.506C>G n.717C>G | |
| 5 | g.135031294G= | CA1584341677 | PITX1 | c.384C= (p.Leu128=) c.506C= n.717C= | |
| 5 | g.135031294G>T | CA128011104 | PITX1 | c.384C>A (p.Leu128=) c.506C>A n.717C>A | ClinVar dbSNP gnomAD v4 |
| 5 | g.135031295A>C | CA361028399 | PITX1 | c.383T>G (p.Leu128Arg) c.505T>G n.716T>G | |
| 5 | g.135031295A>G | CA361028400 | PITX1 | c.383T>C (p.Leu128Pro) c.505T>C n.716T>C | |
| 5 | g.135031295A>T | CA361028401 | PITX1 | c.383T>A (p.Leu128His) c.505T>A n.716T>A | |
| 5 | g.135031296G>A | CA361028402 | PITX1 | c.382C>T (p.Leu128Phe) c.504C>T n.715C>T | |
| 5 | g.135031296G>C | CA361028403 | PITX1 | c.382C>G (p.Leu128Val) c.504C>G n.715C>G | |
| 5 | g.135031296G>T | CA361028404 | PITX1 | c.382C>A (p.Leu128Ile) c.504C>A n.715C>A | |
| 5 | g.135031297G>A | CA446784540 | PITX1 | c.381C>T (p.Asn127=) c.503C>T n.714C>T | gnomAD v4 |
| 5 | g.135031297G>C | CA361028405 | PITX1 | c.381C>G (p.Asn127Lys) c.503C>G n.714C>G | |
| 5 | g.135031297G= | CA1584341680 | PITX1 | c.381C= (p.Asn127=) c.503C= n.714C= | |
| 5 | g.135031297G>T | CA361028406 | PITX1 | c.381C>A (p.Asn127Lys) c.503C>A n.714C>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135031298T>A | CA361028407 | PITX1 | c.380A>T (p.Asn127Ile) c.502A>T n.713A>T | |
| 5 | g.135031298T>C | CA361028409 | PITX1 | c.380A>G (p.Asn127Ser) c.502A>G n.713A>G | |
| 5 | g.135031298T>G | CA361028408 | PITX1 | c.380A>C (p.Asn127Thr) c.502A>C n.713A>C | |
| 5 | g.135031299T>A | CA361028410 | PITX1 | c.379A>T (p.Asn127Tyr) c.501A>T n.712A>T | |
| 5 | g.135031299T>C | CA361028412 | PITX1 | c.379A>G (p.Asn127Asp) c.501A>G n.712A>G | dbSNP gnomAD v2 |
| 5 | g.135031299T>G | CA361028411 | PITX1 | c.379A>C (p.Asn127His) c.501A>C n.712A>C | |
| 5 | g.135031299T= | CA1584341684 | PITX1 | c.379A= (p.Asn127=) c.501A= n.712A= | |
| 5 | g.135031300G>A | CA3417639 | PITX1 | c.378C>T (p.Thr126=) c.500C>T n.711C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135031300G>C | CA446784541 | PITX1 | c.378C>G (p.Thr126=) c.500C>G n.711C>G | |
| 5 | g.135031300G= | CA1584341687 | PITX1 | c.378C= (p.Thr126=) c.500C= n.711C= | |
| 5 | g.135031300G>T | CA446784542 | PITX1 | c.378C>A (p.Thr126=) c.500C>A n.711C>A | |
| 5 | g.135031301G>A | CA361028415 | PITX1 | c.377C>T (p.Thr126Ile) c.499C>T n.710C>T | |
| 5 | g.135031301G>C | CA361028413 | PITX1 | c.377C>G (p.Thr126Ser) c.499C>G n.710C>G | |
| 5 | g.135031301G>T | CA361028414 | PITX1 | c.377C>A (p.Thr126Asn) c.499C>A n.710C>A | |
| 5 | g.135031302T>A | CA361028416 | PITX1 | c.376A>T (p.Thr126Ser) c.498A>T n.709A>T | |
| 5 | g.135031302T>C | CA361028417 | PITX1 | c.376A>G (p.Thr126Ala) c.498A>G n.709A>G | |
| 5 | g.135031302T>G | CA361028418 | PITX1 | c.376A>C (p.Thr126Pro) c.498A>C n.709A>C | |
| 5 | g.135031303C>A | CA361028419 | PITX1 | c.375G>T (p.Trp125Cys) c.497G>T n.708G>T | |
| 5 | g.135031303C>G | CA361028420 | PITX1 | c.375G>C (p.Trp125Cys) c.497G>C n.708G>C | |
| 5 | g.135031303C>T | CA361028421 | PITX1 | c.375G>A (p.Trp125Ter) c.497G>A n.708G>A | |
| 5 | g.135031304C>A | CA361028422 | PITX1 | c.374G>T (p.Trp125Leu) c.496G>T n.707G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031304C= | CA1584341692 | PITX1 | c.374G= (p.Trp125=) c.496G= n.707G= | |
| 5 | g.135031304C>G | CA361028423 | PITX1 | c.374G>C (p.Trp125Ser) c.496G>C n.707G>C | |
| 5 | g.135031304C>T | CA361028424 | PITX1 | c.374G>A (p.Trp125Ter) c.496G>A n.707G>A | |
| 5 | g.135031305A>C | CA361028427 | PITX1 | c.373T>G (p.Trp125Gly) c.495T>G n.706T>G | |
| 5 | g.135031305A>G | CA361028425 | PITX1 | c.373T>C (p.Trp125Arg) c.495T>C n.706T>C | |
| 5 | g.135031305A>T | CA361028426 | PITX1 | c.373T>A (p.Trp125Arg) c.495T>A n.706T>A | |
| 5 | g.135031306C>A | CA446784543 | PITX1 | c.372G>T (p.Val124=) c.494G>T n.705G>T | |
| 5 | g.135031306C>G | CA446784544 | PITX1 | c.372G>C (p.Val124=) c.494G>C n.705G>C | |
| 5 | g.135031306C>T | CA446784545 | PITX1 | c.372G>A (p.Val124=) c.494G>A n.705G>A | COSMIC |
| 5 | g.135031307A= | CA1584341694 | PITX1 | c.371T= (p.Val124=) c.493T= n.704T= | |
| 5 | g.135031307A>C | CA361028428 | PITX1 | c.371T>G (p.Val124Gly) c.493T>G n.704T>G | gnomAD v4 |
| 5 | g.135031307A>G | CA361028429 | PITX1 | c.371T>C (p.Val124Ala) c.493T>C n.704T>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135031307A>T | CA361028430 | PITX1 | c.371T>A (p.Val124Glu) c.493T>A n.704T>A | gnomAD v4 |
| 5 | g.135031308C>A | CA128011124 | PITX1 | c.370G>T (p.Val124Leu) c.492G>T n.703G>T | dbSNP |
| 5 | g.135031308C= | CA1584341697 | PITX1 | c.370G= (p.Val124=) c.492G= n.703G= | |
| 5 | g.135031308C>G | CA361028431 | PITX1 | c.370G>C (p.Val124Leu) c.492G>C n.703G>C | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.135031308C>T | CA3417640 | PITX1 | c.370G>A (p.Val124Met) c.492G>A n.703G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031309G>A | CA3417641 | PITX1 | c.369C>T (p.Ala123=) c.491C>T n.702C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135031309G>C | CA446784547 | PITX1 | c.369C>G (p.Ala123=) c.491C>G n.702C>G | dbSNP gnomAD v4 |
| 5 | g.135031309G= | CA1584341703 | PITX1 | c.369C= (p.Ala123=) c.491C= n.702C= | |
| 5 | g.135031309G>T | CA446784546 | PITX1 | c.369C>A (p.Ala123=) c.491C>A n.702C>A | gnomAD v4 |
| 5 | g.135031310G>A | CA361028432 | PITX1 | c.368C>T (p.Ala123Val) c.490C>T n.701C>T | |
| 5 | g.135031310G>C | CA361028433 | PITX1 | c.368C>G (p.Ala123Gly) c.490C>G n.701C>G | |
| 5 | g.135031310G>T | CA361028434 | PITX1 | c.368C>A (p.Ala123Asp) c.490C>A n.701C>A | |
| 5 | g.135031311_135031312del | CA2675354036 | PITX1 | c.367_368del (p.Ala123ArgfsTer23) c.489_490del n.700_701del c.367_368del (p.Ala123ArgfsTer?) | gnomAD v4 |
| 5 | g.135031311C>A | CA361028436 | PITX1 | c.367G>T (p.Ala123Ser) c.489G>T n.700G>T | |
| 5 | g.135031311C>G | CA361028437 | PITX1 | c.367G>C (p.Ala123Pro) c.489G>C n.700G>C | |
| 5 | g.135031311C>T | CA361028435 | PITX1 | c.367G>A (p.Ala123Thr) c.489G>A n.700G>A | |
| 5 | g.135031312G>A | CA446784548 | PITX1 | c.366C>T (p.Ile122=) c.488C>T n.699C>T | dbSNP |
| 5 | g.135031312G>C | CA361028438 | PITX1 | c.366C>G (p.Ile122Met) c.488C>G n.699C>G | |
| 5 | g.135031312G= | CA1584341705 | PITX1 | c.366C= (p.Ile122=) c.488C= n.699C= | |
| 5 | g.135031312G>T | CA446784549 | PITX1 | c.366C>A (p.Ile122=) c.488C>A n.699C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031313A>C | CA361028439 | PITX1 | c.365T>G (p.Ile122Ser) c.487T>G n.698T>G | |
| 5 | g.135031313A>G | CA361028440 | PITX1 | c.365T>C (p.Ile122Thr) c.487T>C n.698T>C | |
| 5 | g.135031313A>T | CA361028441 | PITX1 | c.365T>A (p.Ile122Asn) c.487T>A n.698T>A | |
| 5 | g.135031314T>A | CA361028442 | PITX1 | c.364A>T (p.Ile122Phe) c.486A>T n.697A>T | |
| 5 | g.135031314T>C | CA361028443 | PITX1 | c.364A>G (p.Ile122Val) c.486A>G n.697A>G | |
| 5 | g.135031314T>G | CA361028444 | PITX1 | c.364A>C (p.Ile122Leu) c.486A>C n.697A>C | |
| 5 | g.135031316_135031317del | CA2578464956 | PITX1 | c.363_364del (p.Glu121AspfsTer25) c.485_486del n.696_697del c.363_364del (p.Glu121AspfsTer?) | |
| 5 | g.135031315C>A | CA361028445 | PITX1 | c.363G>T (p.Glu121Asp) c.485G>T n.696G>T | |
| 5 | g.135031315C>G | CA361028446 | PITX1 | c.363G>C (p.Glu121Asp) c.485G>C n.696G>C | |
| 5 | g.135031315C>T | CA446784550 | PITX1 | c.363G>A (p.Glu121=) c.485G>A n.696G>A | |
| 5 | g.135031316T>A | CA361028447 | PITX1 | c.362A>T (p.Glu121Val) c.484A>T n.695A>T | |
| 5 | g.135031316T>C | CA361028448 | PITX1 | c.362A>G (p.Glu121Gly) c.484A>G n.695A>G | |
| 5 | g.135031316T>G | CA361028449 | PITX1 | c.362A>C (p.Glu121Ala) c.484A>C n.695A>C | |
| 5 | g.135031317C>A | CA361028452 | PITX1 | c.361G>T (p.Glu121Ter) c.483G>T n.694G>T | |
| 5 | g.135031317C>G | CA361028450 | PITX1 | c.361G>C (p.Glu121Gln) c.483G>C n.694G>C | |
| 5 | g.135031317C>T | CA361028451 | PITX1 | c.361G>A (p.Glu121Lys) c.483G>A n.694G>A | |
| 5 | g.135031318C>A | CA361028453 | PITX1 | c.360G>T (p.Glu120Asp) c.482G>T n.693G>T | |
| 5 | g.135031318C= | CA1584341707 | PITX1 | c.360G= (p.Glu120=) c.482G= n.693G= | |
| 5 | g.135031318C>G | CA3417642 | PITX1 | c.360G>C (p.Glu120Asp) c.482G>C n.693G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031318C>T | CA446784551 | PITX1 | c.360G>A (p.Glu120=) c.482G>A n.693G>A | dbSNP |
| 5 | g.135031319T>A | CA361028454 | PITX1 | c.359A>T (p.Glu120Val) c.481A>T n.692A>T | |
| 5 | g.135031319T>C | CA361028455 | PITX1 | c.359A>G (p.Glu120Gly) c.481A>G n.692A>G | |
| 5 | g.135031319T>G | CA361028456 | PITX1 | c.359A>C (p.Glu120Ala) c.481A>C n.692A>C | |
| 5 | g.135031320C>A | CA361028457 | PITX1 | c.358G>T (p.Glu120Ter) c.480G>T n.691G>T | |
| 5 | g.135031320C>G | CA361028458 | PITX1 | c.358G>C (p.Glu120Gln) c.480G>C n.691G>C | |
| 5 | g.135031320C>T | CA361028459 | PITX1 | c.358G>A (p.Glu120Lys) c.480G>A n.691G>A | |
| 5 | g.135031321C>A | CA361028460 | PITX1 | c.357G>T (p.Arg119Ser) c.479G>T n.690G>T | |
| 5 | g.135031321C>G | CA361028461 | PITX1 | c.357G>C (p.Arg119Ser) c.479G>C n.690G>C | |
| 5 | g.135031321C>T | CA446784552 | PITX1 | c.357G>A (p.Arg119=) c.479G>A n.690G>A | gnomAD v4 |
| 5 | g.135031321_135031322insTGCATG | CA2555057100 | PITX1 | c.356_357insCATGCA (p.Arg119delinsSerMetGln) c.478_479insCATGCA n.689_690insCATGCA | |
| 5 | g.135031322C>A | CA361028462 | PITX1 | c.356G>T (p.Arg119Met) c.478G>T n.689G>T | |
| 5 | g.135031322C= | CA1584341710 | PITX1 | c.356G= (p.Arg119=) c.478G= n.689G= | |
| 5 | g.135031322C>G | CA361028463 | PITX1 | c.356G>C (p.Arg119Thr) c.478G>C n.689G>C | dbSNP |
| 5 | g.135031322C>T | CA361028464 | PITX1 | c.356G>A (p.Arg119Lys) c.478G>A n.689G>A | |
| 5 | g.135031323T>A | CA361028466 | PITX1 | c.355A>T (p.Arg119Trp) c.477A>T n.688A>T | |
| 5 | g.135031323T>C | CA361028465 | PITX1 | c.355A>G (p.Arg119Gly) c.477A>G n.688A>G | |
| 5 | g.135031323T>G | CA446784553 | PITX1 | c.355A>C (p.Arg119=) c.477A>C n.688A>C | |
| 5 | g.135031324C>A | CA361028467 | PITX1 | c.354G>T (p.Met118Ile) c.476G>T n.687G>T | |
| 5 | g.135031324C>G | CA361028469 | PITX1 | c.354G>C (p.Met118Ile) c.476G>C n.687G>C | |
| 5 | g.135031324C>T | CA361028468 | PITX1 | c.354G>A (p.Met118Ile) c.476G>A n.687G>A | |
| 5 | g.135031325A>C | CA361028470 | PITX1 | c.353T>G (p.Met118Arg) c.475T>G n.686T>G | |
| 5 | g.135031325A>G | CA361028471 | PITX1 | c.353T>C (p.Met118Thr) c.475T>C n.686T>C | |
| 5 | g.135031325A>T | CA361028472 | PITX1 | c.353T>A (p.Met118Lys) c.475T>A n.686T>A | |
| 5 | g.135031326T>A | CA361028473 | PITX1 | c.352A>T (p.Met118Leu) c.474A>T n.685A>T | |
| 5 | g.135031326T>C | CA3417643 | PITX1 | c.352A>G (p.Met118Val) c.474A>G n.685A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031326T>G | CA361028474 | PITX1 | c.352A>C (p.Met118Leu) c.474A>C n.685A>C | dbSNP |
| 5 | g.135031326T= | CA1584341713 | PITX1 | c.352A= (p.Met118=) c.474A= n.685A= | |
| 5 | g.135031327G>A | CA446784554 | PITX1 | c.351C>T (p.Ser117=) c.473C>T n.684C>T | |
| 5 | g.135031327G>C | CA361028475 | PITX1 | c.351C>G (p.Ser117Arg) c.473C>G n.684C>G | |
| 5 | g.135031327G>T | CA361028476 | PITX1 | c.351C>A (p.Ser117Arg) c.473C>A n.684C>A | COSMIC |
| 5 | g.135031328C>A | CA361028477 | PITX1 | c.350G>T (p.Ser117Ile) c.472G>T n.683G>T | |
| 5 | g.135031328C>G | CA361028478 | PITX1 | c.350G>C (p.Ser117Thr) c.472G>C n.683G>C | |
| 5 | g.135031328C>T | CA361028479 | PITX1 | c.350G>A (p.Ser117Asn) c.472G>A n.683G>A | |
| 5 | g.135031329T>A | CA361028482 | PITX1 | c.349A>T (p.Ser117Cys) c.471A>T n.682A>T | |
| 5 | g.135031329T>C | CA361028480 | PITX1 | c.349A>G (p.Ser117Gly) c.471A>G n.682A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031329T>G | CA361028481 | PITX1 | c.349A>C (p.Ser117Arg) c.471A>C n.682A>C | |
| 5 | g.135031329T= | CA1584341716 | PITX1 | c.349A= (p.Ser117=) c.471A= n.682A= | |
| 5 | g.135031330C>A | CA361028483 | PITX1 | c.348G>T (p.Met116Ile) c.470G>T n.681G>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135031330C= | CA1584341719 | PITX1 | c.348G= (p.Met116=) c.470G= n.681G= | |
| 5 | g.135031330C>G | CA361028484 | PITX1 | c.348G>C (p.Met116Ile) c.470G>C n.681G>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135031330C>T | CA361028485 | PITX1 | c.348G>A (p.Met116Ile) c.470G>A n.681G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031331A= | CA1584341724 | PITX1 | c.347T= (p.Met116=) c.469T= n.680T= | |
| 5 | g.135031331A>C | CA361028486 | PITX1 | c.347T>G (p.Met116Arg) c.469T>G n.680T>G | dbSNP gnomAD v4 |
| 5 | g.135031331A>G | CA361028487 | PITX1 | c.347T>C (p.Met116Thr) c.469T>C n.680T>C | |
| 5 | g.135031331A>T | CA361028488 | PITX1 | c.347T>A (p.Met116Lys) c.469T>A n.680T>A | |
| 5 | g.135031332T>A | CA361028489 | PITX1 | c.346A>T (p.Met116Leu) c.468A>T n.679A>T | gnomAD v4 |
| 5 | g.135031332T>C | CA361028490 | PITX1 | c.346A>G (p.Met116Val) c.468A>G n.679A>G | gnomAD v4 |
| 5 | g.135031332T>G | CA361028491 | PITX1 | c.346A>C (p.Met116Leu) c.468A>C n.679A>C | gnomAD v4 |
| 5 | g.135031333G>A | CA446784555 | PITX1 | c.345C>T (p.Asp115=) c.467C>T n.678C>T | |
| 5 | g.135031333G>C | CA361028492 | PITX1 | c.345C>G (p.Asp115Glu) c.467C>G n.678C>G | |
| 5 | g.135031333G>T | CA361028493 | PITX1 | c.345C>A (p.Asp115Glu) c.467C>A n.678C>A | |
| 5 | g.135031334T>A | CA361028495 | PITX1 | c.344A>T (p.Asp115Val) c.466A>T n.677A>T | |
| 5 | g.135031334T>C | CA361028496 | PITX1 | c.344A>G (p.Asp115Gly) c.466A>G n.677A>G | |
| 5 | g.135031334T>G | CA361028494 | PITX1 | c.344A>C (p.Asp115Ala) c.466A>C n.677A>C | |
| 5 | g.135031335C>A | CA361028497 | PITX1 | c.343G>T (p.Asp115Tyr) c.465G>T n.676G>T | |
| 5 | g.135031335C= | CA1584341726 | PITX1 | c.343G= (p.Asp115=) c.465G= n.676G= | |
| 5 | g.135031335C>G | CA361028498 | PITX1 | c.343G>C (p.Asp115His) c.465G>C n.676G>C | gnomAD v4 |
| 5 | g.135031335C>T | CA361028499 | PITX1 | c.343G>A (p.Asp115Asn) c.465G>A n.676G>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135031336G>A | CA446784556 | PITX1 | c.342C>T (p.Pro114=) c.464C>T n.675C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135031336G>C | CA3417644 | PITX1 | c.342C>G (p.Pro114=) c.464C>G n.675C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135031336G= | CA1584341730 | PITX1 | c.342C= (p.Pro114=) c.464C= n.675C= | |
| 5 | g.135031336G>T | CA446784558 | PITX1 | c.342C>A (p.Pro114=) c.464C>A n.675C>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135031337G>A | CA361028500 | PITX1 | c.341C>T (p.Pro114Leu) c.463C>T n.674C>T | |
| 5 | g.135031337G>C | CA361028501 | PITX1 | c.341C>G (p.Pro114Arg) c.463C>G n.674C>G | |
| 5 | g.135031337G>T | CA361028502 | PITX1 | c.341C>A (p.Pro114His) c.463C>A n.674C>A | |
| 5 | g.135031338G>A | CA361028503 | PITX1 | c.340C>T (p.Pro114Ser) c.462C>T n.673C>T | |
| 5 | g.135031338G>C | CA361028504 | PITX1 | c.340C>G (p.Pro114Ala) c.462C>G n.673C>G | |
| 5 | g.135031338G>T | CA361028505 | PITX1 | c.340C>A (p.Pro114Thr) c.462C>A n.673C>A | |
| 5 | g.135031339G>A | CA446784559 | PITX1 | c.339C>T (p.Tyr113=) c.461C>T n.672C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135031339G>C | CA361028506 | PITX1 | c.339C>G (p.Tyr113Ter) c.461C>G n.672C>G | |
| 5 | g.135031339G= | CA1584341732 | PITX1 | c.339C= (p.Tyr113=) c.461C= n.672C= | |
| 5 | g.135031339G>T | CA361028507 | PITX1 | c.339C>A (p.Tyr113Ter) c.461C>A n.672C>A | |
| 5 | g.135031340T>A | CA361028510 | PITX1 | c.338A>T (p.Tyr113Phe) c.460A>T n.671A>T | |
| 5 | g.135031340T>C | CA361028511 | PITX1 | c.338A>G (p.Tyr113Cys) c.460A>G n.671A>G | |
| 5 | g.135031340T>G | CA361028509 | PITX1 | c.338A>C (p.Tyr113Ser) c.460A>C n.671A>C | |
| 5 | g.135031341A>C | CA361028512 | PITX1 | c.337T>G (p.Tyr113Asp) c.459T>G n.670T>G | gnomAD v4 |
| 5 | g.135031341A>G | CA361028513 | PITX1 | c.337T>C (p.Tyr113His) c.459T>C n.670T>C | |
| 5 | g.135031341A>T | CA361028514 | PITX1 | c.337T>A (p.Tyr113Asn) c.459T>A n.670T>A | |
| 5 | g.135031342G>A | CA446784561 | PITX1 | c.336C>T (p.Arg112=) c.458C>T n.669C>T | |
| 5 | g.135031342G>C | CA446784562 | PITX1 | c.336C>G (p.Arg112=) c.458C>G n.669C>G | |
| 5 | g.135031342G>T | CA446784563 | PITX1 | c.336C>A (p.Arg112=) c.458C>A n.669C>A | |
| 5 | g.135031343C>A | CA361028515 | PITX1 | c.335G>T (p.Arg112Leu) c.457G>T n.668G>T | |
| 5 | g.135031343C>G | CA361028516 | PITX1 | c.335G>C (p.Arg112Pro) c.457G>C n.668G>C | |
| 5 | g.135031343C>T | CA361028517 | PITX1 | c.335G>A (p.Arg112His) c.457G>A n.668G>A | |
| 5 | g.135031344G>A | CA361028518 | PITX1 | c.334C>T (p.Arg112Cys) c.456C>T n.667C>T | gnomAD v4 |
| 5 | g.135031344G>C | CA361028520 | PITX1 | c.334C>G (p.Arg112Gly) c.456C>G n.667C>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135031344G= | CA1584341734 | PITX1 | c.334C= (p.Arg112=) c.456C= n.667C= | |
| 5 | g.135031344G>T | CA361028519 | PITX1 | c.334C>A (p.Arg112Ser) c.456C>A n.667C>A | |
| 5 | g.135031345G>A | CA446784564 | PITX1 | c.333C>T (p.Asn111=) c.455C>T n.666C>T | |
| 5 | g.135031345G>C | CA361028521 | PITX1 | c.333C>G (p.Asn111Lys) c.455C>G n.666C>G | |
| 5 | g.135031345G>T | CA361028522 | PITX1 | c.333C>A (p.Asn111Lys) c.455C>A n.666C>A | |
| 5 | g.135031346T>A | CA361028523 | PITX1 | c.332A>T (p.Asn111Ile) c.454A>T n.665A>T | |
| 5 | g.135031346T>C | CA361028524 | PITX1 | c.332A>G (p.Asn111Ser) c.454A>G n.665A>G | |
| 5 | g.135031346T>G | CA361028525 | PITX1 | c.332A>C (p.Asn111Thr) c.454A>C n.665A>C | |
| 5 | g.135031347T>A | CA361028527 | PITX1 | c.331A>T (p.Asn111Tyr) c.453A>T n.664A>T | |
| 5 | g.135031347T>C | CA361028528 | PITX1 | c.331A>G (p.Asn111Asp) c.453A>G n.664A>G | |
| 5 | g.135031347T>G | CA361028526 | PITX1 | c.331A>C (p.Asn111His) c.453A>C n.664A>C | |
| 5 | g.135031348C>A | CA361028529 | PITX1 | c.330G>T (p.Arg110Ser) c.452G>T n.663G>T | |
| 5 | g.135031348C>G | CA361028530 | PITX1 | c.330G>C (p.Arg110Ser) c.452G>C n.663G>C | |
| 5 | g.135031348C>T | CA446784565 | PITX1 | c.330G>A (p.Arg110=) c.452G>A n.663G>A | |
| 5 | g.135031349C>A | CA361028531 | PITX1 | c.329G>T (p.Arg110Met) c.451G>T n.662G>T | |
| 5 | g.135031349C>G | CA361028532 | PITX1 | c.329G>C (p.Arg110Thr) c.451G>C n.662G>C | |
| 5 | g.135031349C>T | CA361028533 | PITX1 | c.329G>A (p.Arg110Lys) c.451G>A n.662G>A | |
| 5 | g.135031350_135031357dup | CA2675354037 | PITX1 | c.322_329dup (p.Arg110SerfsTer10) c.322_329dup (p.Arg110SerfsTer?) c.444_451dup n.655_662dup | gnomAD v4 |
| 5 | g.135031350T>A | CA361028534 | PITX1 | c.328A>T (p.Arg110Trp) c.450A>T n.661A>T | |
| 5 | g.135031350T>C | CA361028535 | PITX1 | c.328A>G (p.Arg110Gly) c.450A>G n.661A>G | |
| 5 | g.135031350T>G | CA446784566 | PITX1 | c.328A>C (p.Arg110=) c.450A>C n.661A>C | |
| 5 | g.135031351C>A | CA361028536 | PITX1 | c.327G>T (p.Gln109His) c.449G>T n.660G>T | |
| 5 | g.135031351C>G | CA361028537 | PITX1 | c.327G>C (p.Gln109His) c.449G>C n.660G>C | gnomAD v4 |
| 5 | g.135031351C>T | CA446784567 | PITX1 | c.327G>A (p.Gln109=) c.449G>A n.660G>A | |
| 5 | g.135031352T>A | CA361028538 | PITX1 | c.326A>T (p.Gln109Leu) c.448A>T n.659A>T | |
| 5 | g.135031352T>C | CA361028539 | PITX1 | c.326A>G (p.Gln109Arg) c.448A>G n.659A>G | |
| 5 | g.135031352T>G | CA361028540 | PITX1 | c.326A>C (p.Gln109Pro) c.448A>C n.659A>C | |
| 5 | g.135031353G>A | CA361028541 | PITX1 | c.325C>T (p.Gln109Ter) c.447C>T n.658C>T | |
| 5 | g.135031353G>C | CA361028542 | PITX1 | c.325C>G (p.Gln109Glu) c.447C>G n.658C>G | |
| 5 | g.135031353G>T | CA361028543 | PITX1 | c.325C>A (p.Gln109Lys) c.447C>A n.658C>A | |
| 5 | g.135031354G>A | CA3417645 | PITX1 | c.324C>T (p.Phe108=) c.446C>T n.657C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031354G>C | CA361028545 | PITX1 | c.324C>G (p.Phe108Leu) c.446C>G n.657C>G | |
| 5 | g.135031354G= | CA1584341737 | PITX1 | c.324C= (p.Phe108=) c.446C= n.657C= | |
| 5 | g.135031354G>T | CA361028544 | PITX1 | c.324C>A (p.Phe108Leu) c.446C>A n.657C>A | |
| 5 | g.135031355A>C | CA361028546 | PITX1 | c.323T>G (p.Phe108Cys) c.445T>G n.656T>G | |
| 5 | g.135031355A>G | CA361028547 | PITX1 | c.323T>C (p.Phe108Ser) c.445T>C n.656T>C | |
| 5 | g.135031355A>T | CA361028548 | PITX1 | c.323T>A (p.Phe108Tyr) c.445T>A n.656T>A | |
| 5 | g.135031356A>C | CA361028549 | PITX1 | c.322T>G (p.Phe108Val) c.444T>G n.655T>G | |
| 5 | g.135031356A>G | CA361028550 | PITX1 | c.322T>C (p.Phe108Leu) c.444T>C n.655T>C | |
| 5 | g.135031356A>T | CA361028551 | PITX1 | c.322T>A (p.Phe108Ile) c.444T>A n.655T>A | |
| 5 | g.135031356_135031368del | CA2675354038 | PITX1 | c.310_322del (p.Leu104SerfsTer9) c.310_322del (p.Leu104SerfsTer?) c.432_444del n.643_655del | gnomAD v4 |
| 5 | g.135031357C>A | CA446784570 | PITX1 | c.321G>T (p.Thr107=) c.443G>T n.654G>T | |
| 5 | g.135031357C= | CA1584341741 | PITX1 | c.321G= (p.Thr107=) c.443G= n.654G= | |
| 5 | g.135031357C>G | CA446784568 | PITX1 | c.321G>C (p.Thr107=) c.443G>C n.654G>C | |
| 5 | g.135031357C>T | CA446784569 | PITX1 | c.321G>A (p.Thr107=) c.443G>A n.654G>A | dbSNP gnomAD v4 |
| 5 | g.135031358G>A | CA361028552 | PITX1 | c.320C>T (p.Thr107Met) c.442C>T n.653C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135031358G>C | CA361028553 | PITX1 | c.320C>G (p.Thr107Arg) c.442C>G n.653C>G | |
| 5 | g.135031358G= | CA1584341745 | PITX1 | c.320C= (p.Thr107=) c.442C= n.653C= | |
| 5 | g.135031358G>T | CA361028554 | PITX1 | c.320C>A (p.Thr107Lys) c.442C>A n.653C>A | |
| 5 | g.135031359T>A | CA361028555 | PITX1 | c.319A>T (p.Thr107Ser) c.441A>T n.652A>T | |
| 5 | g.135031359T>C | CA361028556 | PITX1 | c.319A>G (p.Thr107Ala) c.441A>G n.652A>G | |
| 5 | g.135031359T>G | CA361028557 | PITX1 | c.319A>C (p.Thr107Pro) c.441A>C n.652A>C | |
| 5 | g.135031360G>A | CA446784571 | PITX1 | c.318C>T (p.Ala106=) c.440C>T n.651C>T | gnomAD v4 |
| 5 | g.135031360G>C | CA446784572 | PITX1 | c.318C>G (p.Ala106=) c.440C>G n.651C>G | |
| 5 | g.135031360G>T | CA446784573 | PITX1 | c.318C>A (p.Ala106=) c.440C>A n.651C>A | |
| 5 | g.135031361G>A | CA361028560 | PITX1 | c.317C>T (p.Ala106Val) c.439C>T n.650C>T | gnomAD v4 |
| 5 | g.135031361G>C | CA361028558 | PITX1 | c.317C>G (p.Ala106Gly) c.439C>G n.650C>G | |
| 5 | g.135031361G>T | CA361028559 | PITX1 | c.317C>A (p.Ala106Asp) c.439C>A n.650C>A | |
| 5 | g.135031362C>A | CA361028561 | PITX1 | c.316G>T (p.Ala106Ser) c.438G>T n.649G>T | |
| 5 | g.135031362C= | CA1584341748 | PITX1 | c.316G= (p.Ala106=) c.438G= n.649G= | |
| 5 | g.135031362C>G | CA361028562 | PITX1 | c.316G>C (p.Ala106Pro) c.438G>C n.649G>C | |
| 5 | g.135031362C>T | CA361028563 | PITX1 | c.316G>A (p.Ala106Thr) c.438G>A n.649G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031363C>A | CA361028564 | PITX1 | c.315G>T (p.Glu105Asp) c.437G>T n.648G>T | |
| 5 | g.135031363C>G | CA361028565 | PITX1 | c.315G>C (p.Glu105Asp) c.437G>C n.648G>C | |
| 5 | g.135031363C>T | CA446784574 | PITX1 | c.315G>A (p.Glu105=) c.437G>A n.648G>A | gnomAD v4 |
| 5 | g.135031364T>A | CA361028568 | PITX1 | c.314A>T (p.Glu105Val) c.436A>T n.647A>T | |
| 5 | g.135031364T>C | CA361028567 | PITX1 | c.314A>G (p.Glu105Gly) c.436A>G n.647A>G | |
| 5 | g.135031364T>G | CA361028566 | PITX1 | c.314A>C (p.Glu105Ala) c.436A>C n.647A>C | |
| 5 | g.135031365C>A | CA361028569 | PITX1 | c.313G>T (p.Glu105Ter) c.435G>T n.646G>T | |
| 5 | g.135031365C>G | CA361028570 | PITX1 | c.313G>C (p.Glu105Gln) c.435G>C n.646G>C | |
| 5 | g.135031365C>T | CA361028571 | PITX1 | c.313G>A (p.Glu105Lys) c.435G>A n.646G>A | |
| 5 | g.135031366T>A | CA446784575 | PITX1 | c.312A>T (p.Leu104=) c.434A>T n.645A>T | |
| 5 | g.135031366T>C | CA446784576 | PITX1 | c.312A>G (p.Leu104=) c.434A>G n.645A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031366T>G | CA446784577 | PITX1 | c.312A>C (p.Leu104=) c.434A>C n.645A>C | |
| 5 | g.135031366T= | CA1584341750 | PITX1 | c.312A= (p.Leu104=) c.434A= n.645A= | |
| 5 | g.135031367A>C | CA361028572 | PITX1 | c.311T>G (p.Leu104Arg) c.433T>G n.644T>G | |
| 5 | g.135031367A>G | CA361028573 | PITX1 | c.311T>C (p.Leu104Pro) c.433T>C n.644T>C | |
| 5 | g.135031367A>T | CA361028574 | PITX1 | c.311T>A (p.Leu104Gln) c.433T>A n.644T>A | |
| 5 | g.135031368G>A | CA3417646 | PITX1 | c.310C>T (p.Leu104=) c.432C>T n.643C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031368G>C | CA361028575 | PITX1 | c.310C>G (p.Leu104Val) c.432C>G n.643C>G | |
| 5 | g.135031368G= | CA1584341753 | PITX1 | c.310C= (p.Leu104=) c.432C= n.643C= | |
| 5 | g.135031368G>T | CA361028576 | PITX1 | c.310C>A (p.Leu104Ile) c.432C>A n.643C>A | |
| 5 | g.135031369C>A | CA361028577 | PITX1 | c.309G>T (p.Glu103Asp) c.431G>T n.642G>T | |
| 5 | g.135031369C= | CA1584341759 | PITX1 | c.309G= (p.Glu103=) c.431G= n.642G= | |
| 5 | g.135031369C>G | CA361028578 | PITX1 | c.309G>C (p.Glu103Asp) c.431G>C n.642G>C | |
| 5 | g.135031369C>T | CA446784578 | PITX1 | c.309G>A (p.Glu103=) c.431G>A n.642G>A | dbSNP gnomAD v2 |
| 5 | g.135031370T>A | CA361028579 | PITX1 | c.308A>T (p.Glu103Val) c.430A>T n.641A>T | |
| 5 | g.135031370T>C | CA361028580 | PITX1 | c.308A>G (p.Glu103Gly) c.430A>G n.641A>G | |
| 5 | g.135031370T>G | CA361028581 | PITX1 | c.308A>C (p.Glu103Ala) c.430A>C n.641A>C | |
| 5 | g.135031371C>A | CA361028582 | PITX1 | c.307G>T (p.Glu103Ter) c.429G>T n.640G>T | |
| 5 | g.135031371C>G | CA361028583 | PITX1 | c.307G>C (p.Glu103Gln) c.429G>C n.640G>C | COSMIC |
| 5 | g.135031371C>T | CA361028584 | PITX1 | c.307G>A (p.Glu103Lys) c.429G>A n.640G>A | |
| 5 | g.135031372T>A | CA361028585 | PITX1 | c.306A>T (p.Gln102His) c.428A>T n.639A>T | |
| 5 | g.135031372T>C | CA446784580 | PITX1 | c.306A>G (p.Gln102=) c.428A>G n.639A>G | gnomAD v4 |
| 5 | g.135031372T>G | CA361028586 | PITX1 | c.306A>C (p.Gln102His) c.428A>C n.639A>C | gnomAD v4 |
| 5 | g.135031373T>A | CA361028587 | PITX1 | c.305A>T (p.Gln102Leu) c.427A>T n.638A>T | |
| 5 | g.135031373T>C | CA361028588 | PITX1 | c.305A>G (p.Gln102Arg) c.427A>G n.638A>G | |
| 5 | g.135031373T>G | CA361028589 | PITX1 | c.305A>C (p.Gln102Pro) c.427A>C n.638A>C | |
| 5 | g.135031374G>A | CA361028590 | PITX1 | c.304C>T (p.Gln102Ter) c.426C>T n.637C>T | |
| 5 | g.135031374G>C | CA361028592 | PITX1 | c.304C>G (p.Gln102Glu) c.426C>G n.637C>G | |
| 5 | g.135031374G>T | CA361028591 | PITX1 | c.304C>A (p.Gln102Lys) c.426C>A n.637C>A | |
| 5 | g.135031375C>A | CA361028593 | PITX1 | c.303G>T (p.Leu101Phe) c.425G>T n.636G>T | |
| 5 | g.135031375C>G | CA361028594 | PITX1 | c.303G>C (p.Leu101Phe) c.425G>C n.636G>C | |
| 5 | g.135031375C>T | CA446784581 | PITX1 | c.303G>A (p.Leu101=) c.425G>A n.636G>A | gnomAD v4 |
| 5 | g.135031376A>C | CA361028595 | PITX1 | c.302T>G (p.Leu101Trp) c.424T>G n.635T>G | |
| 5 | g.135031376A>G | CA361028596 | PITX1 | c.302T>C (p.Leu101Ser) c.424T>C n.635T>C | |
| 5 | g.135031376A>T | CA361028597 | PITX1 | c.302T>A (p.Leu101Ter) c.424T>A n.635T>A | |
| 5 | g.135031377A= | CA1584341762 | PITX1 | c.301T= (p.Leu101=) c.423T= n.634T= | |
| 5 | g.135031377A>C | CA361028598 | PITX1 | c.301T>G (p.Leu101Val) c.423T>G n.634T>G | |
| 5 | g.135031377A>G | CA3417647 | PITX1 | c.301T>C (p.Leu101=) c.423T>C n.634T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135031377A>T | CA361028599 | PITX1 | c.301T>A (p.Leu101Met) c.423T>A n.634T>A | |
| 5 | g.135031378C>A | CA361028600 | PITX1 | c.300G>T (p.Gln100His) c.422G>T n.633G>T | |
| 5 | g.135031378C>G | CA361028601 | PITX1 | c.300G>C (p.Gln100His) c.422G>C n.633G>C | |
| 5 | g.135031378C>T | CA446784582 | PITX1 | c.300G>A (p.Gln100=) c.422G>A n.633G>A | gnomAD v4 |
| 5 | g.135031379T>A | CA361028602 | PITX1 | c.299A>T (p.Gln100Leu) c.421A>T n.632A>T | |
| 5 | g.135031379T>C | CA361028603 | PITX1 | c.299A>G (p.Gln100Arg) c.421A>G n.632A>G | |
| 5 | g.135031379T>G | CA361028604 | PITX1 | c.299A>C (p.Gln100Pro) c.421A>C n.632A>C | |
| 5 | g.135031380G>A | CA361028607 | PITX1 | c.298C>T (p.Gln100Ter) c.420C>T n.631C>T | |
| 5 | g.135031380G>C | CA361028606 | PITX1 | c.298C>G (p.Gln100Glu) c.420C>G n.631C>G | |
| 5 | g.135031380G>T | CA361028605 | PITX1 | c.298C>A (p.Gln100Lys) c.420C>A n.631C>A | |
| 5 | g.135031381C>A | CA361028608 | PITX1 | c.297G>T (p.Gln99His) c.419G>T n.630G>T | |
| 5 | g.135031381C= | CA1584341764 | PITX1 | c.297G= (p.Gln99=) c.419G= n.630G= | |
| 5 | g.135031381C>G | CA361028609 | PITX1 | c.297G>C (p.Gln99His) c.419G>C n.630G>C | dbSNP |
| 5 | g.135031381C>T | CA446784583 | PITX1 | c.297G>A (p.Gln99=) c.419G>A n.630G>A | |
| 5 | g.135031382T>A | CA361028610 | PITX1 | c.296A>T (p.Gln99Leu) c.418A>T n.629A>T | |
| 5 | g.135031382T>C | CA361028611 | PITX1 | c.296A>G (p.Gln99Arg) c.418A>G n.629A>G | |
| 5 | g.135031382T>G | CA361028612 | PITX1 | c.296A>C (p.Gln99Pro) c.418A>C n.629A>C | |
| 5 | g.135031383G>A | CA361028613 | PITX1 | c.295C>T (p.Gln99Ter) c.417C>T n.628C>T | |
| 5 | g.135031383G>C | CA361028614 | PITX1 | c.295C>G (p.Gln99Glu) c.417C>G n.628C>G | |
| 5 | g.135031383G>T | CA361028615 | PITX1 | c.295C>A (p.Gln99Lys) c.417C>A n.628C>A |