| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.135031220_135031254delinsGAGGCGGCCCGGGAGCCCTCTGCGCGGGTGCCCTT | CA1584341543 | PITX1 | c.402+22_402+56delinsAAGGGCACCCGCGCAGAGGGCTCCCGGGCCGCCTC (n.402+22_402+56delinsAAGGGCACCCGCGCAGAGGGCTCCCGGGCCGCCTC) c.524+22_524+56delinsAAGGGCACCCGCGCAGAGGGCTCCCGGGCCGCCTC n.735+22_735+56delinsAAGGGCACCCGCGCAGAGGGCTCCCGGGCCGCCTC | |
| 5 | g.135031226_135031259del | CA1584341545 | PITX1 | c.402+22_402+55del (n.402+22_402+55del) c.524+22_524+55del n.735+22_735+55del | dbSNP gnomAD v4 |
| 5 | g.135031228_135031243delinsCCGGGAGCCCTCTGCG | CA1584341552 | PITX1 | c.402+33_402+48delinsCGCAGAGGGCTCCCGG (n.402+33_402+48delinsCGCAGAGGGCTCCCGG) c.524+33_524+48delinsCGCAGAGGGCTCCCGG n.735+33_735+48delinsCGCAGAGGGCTCCCGG | |
| 5 | g.135031233_135031247del | CA3417619 | PITX1 | c.402+33_402+47del (n.402+33_402+47del) c.524+33_524+47del n.735+33_735+47del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031232del | CA2675354015 | PITX1 | c.402+46del (n.402+46del) c.524+46del n.735+46del | gnomAD v4 |
| 5 | g.135031232G>C | CA2675354016 | PITX1 | c.402+44C>G (n.402+44C>G) c.524+44C>G n.735+44C>G | gnomAD v4 |
| 5 | g.135031232G>T | CA2578464947 | PITX1 | c.402+44C>A (n.402+44C>A) c.524+44C>A n.735+44C>A | |
| 5 | g.135031233A= | CA1584341563 | PITX1 | c.402+43T= (n.402+43T=) c.524+43T= n.735+43T= | |
| 5 | g.135031233A>T | CA1584341564 | PITX1 | c.402+43T>A (n.402+43T>A) c.524+43T>A n.735+43T>A | dbSNP |
| 5 | g.135031233_135031248delinsAGCCCTCTGCGCGGGT | CA1584341562 | PITX1 | c.402+28_402+43delinsACCCGCGCAGAGGGCT (n.402+28_402+43delinsACCCGCGCAGAGGGCT) c.524+28_524+43delinsACCCGCGCAGAGGGCT n.735+28_735+43delinsACCCGCGCAGAGGGCT | |
| 5 | g.135031234G>A | CA1584341570 | PITX1 | c.402+42C>T (n.402+42C>T) c.524+42C>T n.735+42C>T | dbSNP gnomAD v4 |
| 5 | g.135031234G>C | CA2675354017 | PITX1 | c.402+42C>G (n.402+42C>G) c.524+42C>G n.735+42C>G | gnomAD v4 |
| 5 | g.135031234G= | CA1584341568 | PITX1 | c.402+42C= (n.402+42C=) c.524+42C= n.735+42C= | |
| 5 | g.135031234G>T | CA3417623 | PITX1 | c.402+42C>A (n.402+42C>A) c.524+42C>A n.735+42C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031239_135031253del | CA128010951 | PITX1 | c.402+28_402+42del (n.402+28_402+42del) c.524+28_524+42del n.735+28_735+42del | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135031235C>T | CA2675354018 | PITX1 | c.402+41G>A (n.402+41G>A) c.524+41G>A n.735+41G>A | gnomAD v4 |
| 5 | g.135031236C= | CA1584341574 | PITX1 | c.402+40G= (n.402+40G=) c.524+40G= n.735+40G= | |
| 5 | g.135031236C>G | CA128010960 | PITX1 | c.402+40G>C (n.402+40G>C) c.524+40G>C n.735+40G>C | dbSNP gnomAD v2 |
| 5 | g.135031236C>T | CA2675354019 | PITX1 | c.402+40G>A (n.402+40G>A) c.524+40G>A n.735+40G>A | gnomAD v4 |
| 5 | g.135031237C>T | CA2675354020 | PITX1 | c.402+39G>A (n.402+39G>A) c.524+39G>A n.735+39G>A | gnomAD v4 |
| 5 | g.135031238T>A | CA563059378 | PITX1 | c.402+38A>T (n.402+38A>T) c.524+38A>T n.735+38A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031238T>C | CA2768505134 | PITX1 | c.402+38A>G (n.402+38A>G) c.524+38A>G n.735+38A>G | |
| 5 | g.135031238T>G | CA2675354021 | PITX1 | c.402+38A>C (n.402+38A>C) c.524+38A>C n.735+38A>C | gnomAD v4 |
| 5 | g.135031238T= | CA1584341577 | PITX1 | c.402+38A= (n.402+38A=) c.524+38A= n.735+38A= | |
| 5 | g.135031240T>C | CA563059380 | PITX1 | c.402+36A>G (n.402+36A>G) c.524+36A>G n.735+36A>G | dbSNP gnomAD v2 |
| 5 | g.135031240T= | CA1584341582 | PITX1 | c.402+36A= (n.402+36A=) c.524+36A= n.735+36A= | |
| 5 | g.135031241G>T | CA2675354022 | PITX1 | c.402+35C>A (n.402+35C>A) c.524+35C>A n.735+35C>A | gnomAD v4 |
| 5 | g.135031242C= | CA1584341584 | PITX1 | c.402+34G= (n.402+34G=) c.524+34G= n.735+34G= | |
| 5 | g.135031242C>T | CA563059382 | PITX1 | c.402+34G>A (n.402+34G>A) c.524+34G>A n.735+34G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135031243G>A | CA2578464948 | PITX1 | c.402+33C>T (n.402+33C>T) c.524+33C>T n.735+33C>T | |
| 5 | g.135031243G>C | CA2578464949 | PITX1 | c.402+33C>G (n.402+33C>G) c.524+33C>G n.735+33C>G | |
| 5 | g.135031243G>T | CA2578464950 | PITX1 | c.402+33C>A (n.402+33C>A) c.524+33C>A n.735+33C>A | gnomAD v4 |
| 5 | g.135031243dup | CA2675354023 | PITX1 | c.402+33dup (n.402+33dup) c.524+33dup n.735+33dup | gnomAD v4 |
| 5 | g.135031244C= | CA1584341586 | PITX1 | c.402+32G= (n.402+32G=) c.524+32G= n.735+32G= | |
| 5 | g.135031244C>G | CA2675354024 | PITX1 | c.402+32G>C (n.402+32G>C) c.524+32G>C n.735+32G>C | gnomAD v4 |
| 5 | g.135031244C>T | CA3417624 | PITX1 | c.402+32G>A (n.402+32G>A) c.524+32G>A n.735+32G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031245G>A | CA563059384 | PITX1 | c.402+31C>T (n.402+31C>T) c.524+31C>T n.735+31C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135031245G>C | CA2675354025 | PITX1 | c.402+31C>G (n.402+31C>G) c.524+31C>G n.735+31C>G | dbSNP gnomAD v4 |
| 5 | g.135031245G= | CA1584341588 | PITX1 | c.402+31C= (n.402+31C=) c.524+31C= n.735+31C= | |
| 5 | g.135031245G>T | CA563059386 | PITX1 | c.402+31C>A (n.402+31C>A) c.524+31C>A n.735+31C>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.135031247G>A | CA128010998 | PITX1 | c.402+29C>T (n.402+29C>T) c.524+29C>T n.735+29C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135031247G= | CA1584341591 | PITX1 | c.402+29C= (n.402+29C=) c.524+29C= n.735+29C= | |
| 5 | g.135031247G>T | CA2675354026 | PITX1 | c.402+29C>A (n.402+29C>A) c.524+29C>A n.735+29C>A | gnomAD v4 |
| 5 | g.135031248T>C | CA128011003 | PITX1 | c.402+28A>G (n.402+28A>G) c.524+28A>G n.735+28A>G | dbSNP gnomAD v4 |
| 5 | g.135031248T= | CA1584341593 | PITX1 | c.402+28A= (n.402+28A=) c.524+28A= n.735+28A= | |
| 5 | g.135031249G>A | CA2675354027 | PITX1 | c.402+27C>T (n.402+27C>T) c.524+27C>T n.735+27C>T | gnomAD v4 |
| 5 | g.135031249G>T | CA2578464951 | PITX1 | c.402+27C>A (n.402+27C>A) c.524+27C>A n.735+27C>A | gnomAD v4 |
| 5 | g.135031250C>G | CA2675354028 | PITX1 | c.402+26G>C (n.402+26G>C) c.524+26G>C n.735+26G>C | gnomAD v4 |
| 5 | g.135031250C>T | CA2675354029 | PITX1 | c.402+26G>A (n.402+26G>A) c.524+26G>A n.735+26G>A | gnomAD v4 |
| 5 | g.135031252C= | CA1584341594 | PITX1 | c.402+24G= (n.402+24G=) c.524+24G= n.735+24G= | |
| 5 | g.135031252C>G | CA2578464952 | PITX1 | c.402+24G>C (n.402+24G>C) c.524+24G>C n.735+24G>C | |
| 5 | g.135031252C>T | CA3417625 | PITX1 | c.402+24G>A (n.402+24G>A) c.524+24G>A n.735+24G>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.135031253T>C | CA2578464953 | PITX1 | c.402+23A>G (n.402+23A>G) c.524+23A>G n.735+23A>G | |
| 5 | g.135031253T>G | CA2675354030 | PITX1 | c.402+23A>C (n.402+23A>C) c.524+23A>C n.735+23A>C | gnomAD v4 |
| 5 | g.135031254T= | CA1584341595 | PITX1 | c.402+22A= (n.402+22A=) c.524+22A= n.735+22A= | |
| 5 | g.135031255A>T | CA2578464954 | PITX1 | c.402+21T>A (n.402+21T>A) c.524+21T>A n.735+21T>A | |
| 5 | g.135031255_135031256dup | CA563059387 | PITX1 | c.402+20_402+21dup (n.402+20_402+21dup) c.524+20_524+21dup n.735+20_735+21dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031258C>T | CA2675354031 | PITX1 | c.402+18G>A (n.402+18G>A) c.524+18G>A n.735+18G>A | gnomAD v4 |
| 5 | g.135031259G>A | CA3417626 | PITX1 | c.402+17C>T (n.402+17C>T) c.524+17C>T n.735+17C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031259G= | CA1584341597 | PITX1 | c.402+17C= (n.402+17C=) c.524+17C= n.735+17C= | |
| 5 | g.135031260C>A | CA3417627 | PITX1 | c.402+16G>T (n.402+16G>T) c.524+16G>T n.735+16G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135031260C= | CA1584341601 | PITX1 | c.402+16G= (n.402+16G=) c.524+16G= n.735+16G= | |
| 5 | g.135031260C>T | CA563059391 | PITX1 | c.402+16G>A (n.402+16G>A) c.524+16G>A n.735+16G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135031261G>A | CA1081832657 | PITX1 | c.402+15C>T (n.402+15C>T) c.524+15C>T n.735+15C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135031261G= | CA1584341604 | PITX1 | c.402+15C= (n.402+15C=) c.524+15C= n.735+15C= | |
| 5 | g.135031261G>T | CA2675354032 | PITX1 | c.402+15C>A (n.402+15C>A) c.524+15C>A n.735+15C>A | gnomAD v4 |
| 5 | g.135031262C= | CA1584341607 | PITX1 | c.402+14G= (n.402+14G=) c.524+14G= n.735+14G= | |
| 5 | g.135031262C>T | CA1584341606 | PITX1 | c.402+14G>A (n.402+14G>A) c.524+14G>A n.735+14G>A | dbSNP gnomAD v4 |
| 5 | g.135031263A>T | CA2578464955 | PITX1 | c.402+13T>A (n.402+13T>A) c.524+13T>A n.735+13T>A | |
| 5 | g.135031263_135031264delinsAC | CA1584341608 | PITX1 | c.402+12_402+13delinsGT (n.402+12_402+13delinsGT) c.524+12_524+13delinsGT n.735+12_735+13delinsGT | |
| 5 | g.135031264C>T | CA2675354033 | PITX1 | c.402+12G>A (n.402+12G>A) c.524+12G>A n.735+12G>A | gnomAD v4 |
| 5 | g.135031267del | CA3417628 | PITX1 | c.402+12del (n.402+12del) c.524+12del n.735+12del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135031265C= | CA1584341609 | PITX1 | c.402+11G= (n.402+11G=) c.524+11G= n.735+11G= | |
| 5 | g.135031265C>G | CA2675354034 | PITX1 | c.402+11G>C (n.402+11G>C) c.524+11G>C n.735+11G>C | gnomAD v4 |
| 5 | g.135031265C>T | CA3417629 | PITX1 | c.402+11G>A (n.402+11G>A) c.524+11G>A n.735+11G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135031266C= | CA1584341612 | PITX1 | c.402+10G= (n.402+10G=) c.524+10G= n.735+10G= | |
| 5 | g.135031266C>T | CA3417630 | PITX1 | c.402+10G>A (n.402+10G>A) c.524+10G>A n.735+10G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135031267C= | CA1584341615 | PITX1 | c.402+9G= (n.402+9G=) c.524+9G= n.735+9G= | |
| 5 | g.135031267C>G | CA2675354035 | PITX1 | c.402+9G>C (n.402+9G>C) c.524+9G>C n.735+9G>C | gnomAD v4 |
| 5 | g.135031267C>T | CA3417631 | PITX1 | c.402+9G>A (n.402+9G>A) c.524+9G>A n.735+9G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031269T>C | CA1584341617 | PITX1 | c.402+7A>G (n.402+7A>G) c.524+7A>G n.735+7A>G | dbSNP gnomAD v4 |
| 5 | g.135031269T= | CA1584341618 | PITX1 | c.402+7A= (n.402+7A=) c.524+7A= n.735+7A= | |
| 5 | g.135031270G>A | CA3417632 | PITX1 | c.402+6C>T (n.402+6C>T) c.524+6C>T n.735+6C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031270G= | CA1584341620 | PITX1 | c.402+6C= (n.402+6C=) c.524+6C= n.735+6C= | |
| 5 | g.135031273C>A | CA563059399 | PITX1 | c.402+3G>T (n.402+3G>T) c.524+3G>T n.735+3G>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135031273C= | CA1584341624 | PITX1 | c.402+3G= (n.402+3G=) c.524+3G= n.735+3G= | |
| 5 | g.135031273C>T | CA3417633 | PITX1 | c.402+3G>A (n.402+3G>A) c.524+3G>A n.735+3G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031274A>C | CA361028360 | PITX1 | c.402+2T>G (n.402+2T>G) c.524+2T>G n.735+2T>G | |
| 5 | g.135031274A>G | CA361028361 | PITX1 | c.402+2T>C (n.402+2T>C) c.524+2T>C n.735+2T>C | |
| 5 | g.135031274A>T | CA361028362 | PITX1 | c.402+2T>A (n.402+2T>A) c.524+2T>A n.735+2T>A | |
| 5 | g.135031275C>A | CA361028363 | PITX1 | c.402+1G>T (n.402+1G>T) c.524+1G>T n.735+1G>T | |
| 5 | g.135031275C>G | CA361028364 | PITX1 | c.402+1G>C (n.402+1G>C) c.524+1G>C n.735+1G>C | |
| 5 | g.135031275C>T | CA361028365 | PITX1 | c.402+1G>A (n.402+1G>A) c.524+1G>A n.735+1G>A | gnomAD v4 |
| 5 | g.135031276C>A | CA446784526 | PITX1 | c.402G>T (p.Arg134=) c.524G>T n.735G>T | |
| 5 | g.135031276C>G | CA446784525 | PITX1 | c.402G>C (p.Arg134=) c.524G>C n.735G>C | |
| 5 | g.135031276C>T | CA446784524 | PITX1 | c.402G>A (p.Arg134=) c.524G>A n.735G>A | gnomAD v4 |
| 5 | g.135031277C>A | CA361028366 | PITX1 | c.401G>T (p.Arg134Leu) c.523G>T n.734G>T | |
| 5 | g.135031277C= | CA1584341635 | PITX1 | c.401G= (p.Arg134=) c.523G= n.734G= | |
| 5 | g.135031277C>G | CA361028367 | PITX1 | c.401G>C (p.Arg134Pro) c.523G>C n.734G>C | |
| 5 | g.135031277C>T | CA128011027 | PITX1 | c.401G>A (p.Arg134Gln) c.523G>A n.734G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.135031278G>A | CA361028369 | PITX1 | c.400C>T (p.Arg134Trp) c.522C>T n.733C>T | |
| 5 | g.135031278G>C | CA361028368 | PITX1 | c.400C>G (p.Arg134Gly) c.522C>G n.733C>G | |
| 5 | g.135031278G= | CA1584341638 | PITX1 | c.400C= (p.Arg134=) c.522C= n.733C= | |
| 5 | g.135031278G>T | CA128011045 | PITX1 | c.400C>A (p.Arg134=) c.522C>A n.733C>A | dbSNP gnomAD v4 |
| 5 | g.135031279C>A | CA446784527 | PITX1 | c.399G>T (p.Val133=) c.521G>T n.732G>T | |
| 5 | g.135031279C>G | CA446784528 | PITX1 | c.399G>C (p.Val133=) c.521G>C n.732G>C | |
| 5 | g.135031279C>T | CA446784529 | PITX1 | c.399G>A (p.Val133=) c.521G>A n.732G>A | |
| 5 | g.135031280A>C | CA361028370 | PITX1 | c.398T>G (p.Val133Gly) c.520T>G n.731T>G | |
| 5 | g.135031280A>G | CA361028371 | PITX1 | c.398T>C (p.Val133Ala) c.520T>C n.731T>C | |
| 5 | g.135031280A>T | CA361028372 | PITX1 | c.398T>A (p.Val133Glu) c.520T>A n.731T>A | ClinVar dbSNP |
| 5 | g.135031281C>A | CA361028373 | PITX1 | c.397G>T (p.Val133Leu) c.519G>T n.730G>T | |
| 5 | g.135031281C>G | CA361028374 | PITX1 | c.397G>C (p.Val133Leu) c.519G>C n.730G>C | |
| 5 | g.135031281C>T | CA361028375 | PITX1 | c.397G>A (p.Val133Met) c.519G>A n.730G>A | COSMIC |
| 5 | g.135031282G>A | CA3417634 | PITX1 | c.396C>T (p.Arg132=) c.518C>T n.729C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135031282G>C | CA446784530 | PITX1 | c.396C>G (p.Arg132=) c.518C>G n.729C>G | |
| 5 | g.135031282G= | CA1584341642 | PITX1 | c.396C= (p.Arg132=) c.518C= n.729C= | |
| 5 | g.135031282G>T | CA446784531 | PITX1 | c.396C>A (p.Arg132=) c.518C>A n.729C>A | gnomAD v4 |
| 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 |