| 5 | g.135028789T>A | CA361027202 | PITX1 | c.935A>T (p.Tyr312Phe)
| |
| 5 | g.135028789T>C | CA361027203 | PITX1 | c.935A>G (p.Tyr312Cys)
| |
| 5 | g.135028789T>G | CA361027204 | PITX1 | c.935A>C (p.Tyr312Ser)
| |
| 5 | g.135028790A>C | CA361027207 | PITX1 | c.934T>G (p.Tyr312Asp)
| |
| 5 | g.135028790A>G | CA361027205 | PITX1 | c.934T>C (p.Tyr312His)
| ClinVar |
| 5 | g.135028790A>T | CA361027206 | PITX1 | c.934T>A (p.Tyr312Asn)
| |
| 5 | g.135028791C>A | CA361027208 | PITX1 | c.933G>T (p.Gln311His)
| |
| 5 | g.135028791C= | CA1584336356 | PITX1 | c.933G= (p.Gln311=)
| |
| 5 | g.135028791C>G | CA361027209 | PITX1 | c.933G>C (p.Gln311His)
| |
| 5 | g.135028791C>T | CA446781505 | PITX1 | c.933G>A (p.Gln311=)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028792T>A | CA361027210 | PITX1 | c.932A>T (p.Gln311Leu)
| |
| 5 | g.135028792T>C | CA361027211 | PITX1 | c.932A>G (p.Gln311Arg)
| |
| 5 | g.135028792T>G | CA361027212 | PITX1 | c.932A>C (p.Gln311Pro)
| |
| 5 | g.135028793G>A | CA3417511 | PITX1 | c.931C>T (p.Gln311Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135028793G>C | CA361027213 | PITX1 | c.931C>G (p.Gln311Glu)
| |
| 5 | g.135028793G= | CA1584336357 | PITX1 | c.931C= (p.Gln311=)
| |
| 5 | g.135028793G>T | CA361027214 | PITX1 | c.931C>A (p.Gln311Lys)
| gnomAD v4 |
| 5 | g.135028794G>A | CA446781520 | PITX1 | c.930C>T (p.Cys310=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028794G>C | CA361027215 | PITX1 | c.930C>G (p.Cys310Trp)
| |
| 5 | g.135028794G= | CA1584336358 | PITX1 | c.930C= (p.Cys310=)
| |
| 5 | g.135028794G>T | CA361027216 | PITX1 | c.930C>A (p.Cys310Ter)
| |
| 5 | g.135028795C>A | CA361027217 | PITX1 | c.929G>T (p.Cys310Phe)
| gnomAD v4 |
| 5 | g.135028795C>G | CA361027218 | PITX1 | c.929G>C (p.Cys310Ser)
| |
| 5 | g.135028795C>T | CA361027219 | PITX1 | c.929G>A (p.Cys310Tyr)
| gnomAD v4 |
| 5 | g.135028795_135028796delinsCA | CA1584336359 | PITX1 | c.928_929delinsTG (p.Cys310=)
| |
| 5 | g.135028796del | CA804232849 | PITX1 | c.928del (p.Cys310AlafsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028796A>C | CA361027220 | PITX1 | c.928T>G (p.Cys310Gly)
| |
| 5 | g.135028796A>G | CA361027222 | PITX1 | c.928T>C (p.Cys310Arg)
| |
| 5 | g.135028796A>T | CA361027221 | PITX1 | c.928T>A (p.Cys310Ser)
| |
| 5 | g.135028797C>A | CA3417512 | PITX1 | c.927G>T (p.Ala309=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028797C= | CA1584336360 | PITX1 | c.927G= (p.Ala309=)
| |
| 5 | g.135028797C>G | CA3417513 | PITX1 | c.927G>C (p.Ala309=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028797C>T | CA446781537 | PITX1 | c.927G>A (p.Ala309=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028798G>A | CA361027223 | PITX1 | c.926C>T (p.Ala309Val)
| gnomAD v4 |
| 5 | g.135028798G>C | CA3417515 | PITX1 | c.926C>G (p.Ala309Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135028798G= | CA1584336361 | PITX1 | c.926C= (p.Ala309=)
| |
| 5 | g.135028798G>T | CA3417514 | PITX1 | c.926C>A (p.Ala309Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028799C>A | CA361027224 | PITX1 | c.925G>T (p.Ala309Ser)
| |
| 5 | g.135028799C= | CA1584336362 | PITX1 | c.925G= (p.Ala309=)
| |
| 5 | g.135028799C>G | CA361027225 | PITX1 | c.925G>C (p.Ala309Pro)
| |
| 5 | g.135028799C>T | CA3417516 | PITX1 | c.925G>A (p.Ala309Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135028800G>A | CA446781550 | PITX1 | c.924C>T (p.Asn308=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028800G>C | CA361027226 | PITX1 | c.924C>G (p.Asn308Lys)
| dbSNP |
| 5 | g.135028800G= | CA1584336363 | PITX1 | c.924C= (p.Asn308=)
| |
| 5 | g.135028800G>T | CA3417517 | PITX1 | c.924C>A (p.Asn308Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135028801T>A | CA361027227 | PITX1 | c.923A>T (p.Asn308Ile)
| |
| 5 | g.135028801T>C | CA361027228 | PITX1 | c.923A>G (p.Asn308Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028801T>G | CA361027229 | PITX1 | c.923A>C (p.Asn308Thr)
| |
| 5 | g.135028801T= | CA1584336364 | PITX1 | c.923A= (p.Asn308=)
| |
| 5 | g.135028802T>A | CA361027230 | PITX1 | c.922A>T (p.Asn308Tyr)
| |
| 5 | g.135028802T>C | CA361027232 | PITX1 | c.922A>G (p.Asn308Asp)
| |
| 5 | g.135028802T>G | CA361027231 | PITX1 | c.922A>C (p.Asn308His)
| |
| 5 | g.135028804_135028823del | CA2604555994 | PITX1 | c.903_922del (p.Gly302ArgfsTer?)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028803G>A | CA3417518 | PITX1 | c.921C>T (p.Leu307=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135028803G>C | CA446781565 | PITX1 | c.921C>G (p.Leu307=)
| |
| 5 | g.135028803G= | CA1584336365 | PITX1 | c.921C= (p.Leu307=)
| |
| 5 | g.135028803G>T | CA446781568 | PITX1 | c.921C>A (p.Leu307=)
| |
| 5 | g.135028804A>C | CA361027233 | PITX1 | c.920T>G (p.Leu307Arg)
| |
| 5 | g.135028804A>G | CA361027234 | PITX1 | c.920T>C (p.Leu307Pro)
| |
| 5 | g.135028804A>T | CA361027235 | PITX1 | c.920T>A (p.Leu307His)
| |
| 5 | g.135028805G>A | CA361027236 | PITX1 | c.919C>T (p.Leu307Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028805G>C | CA361027237 | PITX1 | c.919C>G (p.Leu307Val)
| gnomAD v4 |
| 5 | g.135028805G= | CA1584336366 | PITX1 | c.919C= (p.Leu307=)
| |
| 5 | g.135028805G>T | CA361027238 | PITX1 | c.919C>A (p.Leu307Ile)
| gnomAD v4 |
| 5 | g.135028806G>A | CA446781579 | PITX1 | c.918C>T (p.Gly306=)
| |
| 5 | g.135028806G>C | CA446781581 | PITX1 | c.918C>G (p.Gly306=)
| |
| 5 | g.135028806G>T | CA446781583 | PITX1 | c.918C>A (p.Gly306=)
| |
| 5 | g.135028807C>A | CA361027239 | PITX1 | c.917G>T (p.Gly306Val)
| COSMIC |
| 5 | g.135028807C>G | CA361027240 | PITX1 | c.917G>C (p.Gly306Ala)
| |
| 5 | g.135028807C>T | CA361027241 | PITX1 | c.917G>A (p.Gly306Asp)
| |
| 5 | g.135028808C>A | CA361027242 | PITX1 | c.916G>T (p.Gly306Cys)
| |
| 5 | g.135028808C= | CA1584336367 | PITX1 | c.916G= (p.Gly306=)
| |
| 5 | g.135028808C>G | CA361027244 | PITX1 | c.916G>C (p.Gly306Arg)
| |
| 5 | g.135028808C>T | CA361027243 | PITX1 | c.916G>A (p.Gly306Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028809C>A | CA446781598 | PITX1 | c.915G>T (p.Ser305=)
| gnomAD v4 |
| 5 | g.135028809C= | CA1584336368 | PITX1 | c.915G= (p.Ser305=)
| |
| 5 | g.135028809C>G | CA3417520 | PITX1 | c.915G>C (p.Ser305=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028809C>T | CA3417519 | PITX1 | c.915G>A (p.Ser305=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135028810G>A | CA361027245 | PITX1 | c.914C>T (p.Ser305Leu)
| ClinVar gnomAD v4 |
| 5 | g.135028810G>C | CA361027247 | PITX1 | c.914C>G (p.Ser305Trp)
| |
| 5 | g.135028810G>T | CA361027246 | PITX1 | c.914C>A (p.Ser305Ter)
| gnomAD v4 |
| 5 | g.135028811A>C | CA361027248 | PITX1 | c.913T>G (p.Ser305Ala)
| |
| 5 | g.135028811A>G | CA361027249 | PITX1 | c.913T>C (p.Ser305Pro)
| |
| 5 | g.135028811A>T | CA361027250 | PITX1 | c.913T>A (p.Ser305Thr)
| |
| 5 | g.135028812G>A | CA446781614 | PITX1 | c.912C>T (p.Ala304=)
| dbSNP gnomAD v4 |
| 5 | g.135028812G>C | CA446781612 | PITX1 | c.912C>G (p.Ala304=)
| |
| 5 | g.135028812G= | CA1584336369 | PITX1 | c.912C= (p.Ala304=)
| |
| 5 | g.135028812G>T | CA446781610 | PITX1 | c.912C>A (p.Ala304=)
| gnomAD v4 |
| 5 | g.135028813G>A | CA361027251 | PITX1 | c.911C>T (p.Ala304Val)
| |
| 5 | g.135028813G>C | CA361027252 | PITX1 | c.911C>G (p.Ala304Gly)
| |
| 5 | g.135028813G= | CA1584336370 | PITX1 | c.911C= (p.Ala304=)
| |
| 5 | g.135028813G>T | CA361027253 | PITX1 | c.911C>A (p.Ala304Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028814C>A | CA361027254 | PITX1 | c.910G>T (p.Ala304Ser)
| |
| 5 | g.135028814C= | CA1584336371 | PITX1 | c.910G= (p.Ala304=)
| |
| 5 | g.135028814C>G | CA361027255 | PITX1 | c.910G>C (p.Ala304Pro)
| |
| 5 | g.135028814C>T | CA361027256 | PITX1 | c.910G>A (p.Ala304Thr)
| dbSNP gnomAD v4 |
| 5 | g.135028815C>A | CA446781625 | PITX1 | c.909G>T (p.Pro303=)
| |
| 5 | g.135028815C= | CA1584336372 | PITX1 | c.909G= (p.Pro303=)
| |
| 5 | g.135028815C>G | CA446781629 | PITX1 | c.909G>C (p.Pro303=)
| gnomAD v4 |
| 5 | g.135028815C>T | CA3417521 | PITX1 | c.909G>A (p.Pro303=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028816_135028819dup | CA2675353690 | PITX1 | c.906_909dup (p.Ala304ProfsTer?)
| gnomAD v4 |
| 5 | g.135028816G>A | CA361027257 | PITX1 | c.908C>T (p.Pro303Leu)
| gnomAD v4 |
| 5 | g.135028816G>C | CA361027258 | PITX1 | c.908C>G (p.Pro303Arg)
| |
| 5 | g.135028816G>T | CA361027259 | PITX1 | c.908C>A (p.Pro303Gln)
| gnomAD v4 |
| 5 | g.135028817G>A | CA361027260 | PITX1 | c.907C>T (p.Pro303Ser)
| |
| 5 | g.135028817G>C | CA3417522 | PITX1 | c.907C>G (p.Pro303Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135028817G= | CA1584336373 | PITX1 | c.907C= (p.Pro303=)
| |
| 5 | g.135028817G>T | CA361027261 | PITX1 | c.907C>A (p.Pro303Thr)
| |
| 5 | g.135028818G>A | CA446781639 | PITX1 | c.906C>T (p.Gly302=)
| |
| 5 | g.135028818G>C | CA446781641 | PITX1 | c.906C>G (p.Gly302=)
| |
| 5 | g.135028818G>T | CA446781643 | PITX1 | c.906C>A (p.Gly302=)
| gnomAD v4 |
| 5 | g.135028819C>A | CA361027262 | PITX1 | c.905G>T (p.Gly302Val)
| |
| 5 | g.135028819C= | CA1584338774 | PITX1 | c.905G= (p.Gly302=)
| |
| 5 | g.135028819C>G | CA361027263 | PITX1 | c.905G>C (p.Gly302Ala)
| |
| 5 | g.135028819C>T | CA361027264 | PITX1 | c.905G>A (p.Gly302Asp)
| dbSNP COSMIC |
| 5 | g.135028820C>A | CA361027265 | PITX1 | c.904G>T (p.Gly302Cys)
| |
| 5 | g.135028820C= | CA1584338778 | PITX1 | c.904G= (p.Gly302=)
| |
| 5 | g.135028820C>G | CA361027266 | PITX1 | c.904G>C (p.Gly302Arg)
| gnomAD v4 |
| 5 | g.135028820C>T | CA361027267 | PITX1 | c.904G>A (p.Gly302Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028821C>A | CA361027268 | PITX1 | c.903G>T (p.Gln301His)
| |
| 5 | g.135028821C= | CA1584338779 | PITX1 | c.903G= (p.Gln301=)
| |
| 5 | g.135028821C>G | CA361027269 | PITX1 | c.903G>C (p.Gln301His)
| |
| 5 | g.135028821C>T | CA3417523 | PITX1 | c.903G>A (p.Gln301=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028822T>A | CA361027272 | PITX1 | c.902A>T (p.Gln301Leu)
| |
| 5 | g.135028822T>C | CA361027271 | PITX1 | c.902A>G (p.Gln301Arg)
| dbSNP |
| 5 | g.135028822T>G | CA361027270 | PITX1 | c.902A>C (p.Gln301Pro)
| |
| 5 | g.135028822T= | CA1584338780 | PITX1 | c.902A= (p.Gln301=)
| |
| 5 | g.135028823G>A | CA3417524 | PITX1 | c.901C>T (p.Gln301Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028823G>C | CA361027273 | PITX1 | c.901C>G (p.Gln301Glu)
| |
| 5 | g.135028823G= | CA1584338781 | PITX1 | c.901C= (p.Gln301=)
| |
| 5 | g.135028823G>T | CA361027274 | PITX1 | c.901C>A (p.Gln301Lys)
| |
| 5 | g.135028824C>A | CA446781668 | PITX1 | c.900G>T (p.Leu300=)
| gnomAD v4 |
| 5 | g.135028824C>G | CA446781669 | PITX1 | c.900G>C (p.Leu300=)
| |
| 5 | g.135028824C>T | CA446781672 | PITX1 | c.900G>A (p.Leu300=)
| |
| 5 | g.135028825A>C | CA361027275 | PITX1 | c.899T>G (p.Leu300Arg)
| ClinVar |
| 5 | g.135028825A>G | CA361027276 | PITX1 | c.899T>C (p.Leu300Pro)
| gnomAD v4 |
| 5 | g.135028825A>T | CA361027277 | PITX1 | c.899T>A (p.Leu300Gln)
| |
| 5 | g.135028826G>A | CA446781682 | PITX1 | c.898C>T (p.Leu300=)
| dbSNP gnomAD v2 |
| 5 | g.135028826G>C | CA361027279 | PITX1 | c.898C>G (p.Leu300Val)
| |
| 5 | g.135028826G= | CA1584338782 | PITX1 | c.898C= (p.Leu300=)
| |
| 5 | g.135028826G>T | CA361027278 | PITX1 | c.898C>A (p.Leu300Met)
| |
| 5 | g.135028827G>A | CA446781688 | PITX1 | c.897C>T (p.Gly299=)
| gnomAD v4 |
| 5 | g.135028827G>C | CA446781690 | PITX1 | c.897C>G (p.Gly299=)
| |
| 5 | g.135028827G>T | CA446781691 | PITX1 | c.897C>A (p.Gly299=)
| gnomAD v4 |
| 5 | g.135028828C>A | CA361027280 | PITX1 | c.896G>T (p.Gly299Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028828C= | CA1584338784 | PITX1 | c.896G= (p.Gly299=)
| |
| 5 | g.135028828C>G | CA3417525 | PITX1 | c.896G>C (p.Gly299Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028828C>T | CA361027281 | PITX1 | c.896G>A (p.Gly299Asp)
| gnomAD v4 |
| 5 | g.135028829C>A | CA361027282 | PITX1 | c.895G>T (p.Gly299Cys)
| |
| 5 | g.135028829C= | CA1584338785 | PITX1 | c.895G= (p.Gly299=)
| |
| 5 | g.135028829C>G | CA361027283 | PITX1 | c.895G>C (p.Gly299Arg)
| |
| 5 | g.135028829C>T | CA3417526 | PITX1 | c.895G>A (p.Gly299Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028830G>A | CA446781704 | PITX1 | c.894C>T (p.Gly298=)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028830G>C | CA446781707 | PITX1 | c.894C>G (p.Gly298=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028830G= | CA1584338786 | PITX1 | c.894C= (p.Gly298=)
| |
| 5 | g.135028830G>T | CA446781709 | PITX1 | c.894C>A (p.Gly298=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028831C>A | CA361027284 | PITX1 | c.893G>T (p.Gly298Val)
| |
| 5 | g.135028831C= | CA1584338791 | PITX1 | c.893G= (p.Gly298=)
| |
| 5 | g.135028831C>G | CA361027286 | PITX1 | c.893G>C (p.Gly298Ala)
| |
| 5 | g.135028831C>T | CA361027285 | PITX1 | c.893G>A (p.Gly298Asp)
| dbSNP |
| 5 | g.135028832C>A | CA361027287 | PITX1 | c.892G>T (p.Gly298Cys)
| |
| 5 | g.135028832C>G | CA361027288 | PITX1 | c.892G>C (p.Gly298Arg)
| |
| 5 | g.135028832C>T | CA361027289 | PITX1 | c.892G>A (p.Gly298Ser)
| |
| 5 | g.135028833G>A | CA446781720 | PITX1 | c.891C>T (p.Tyr297=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028833G>C | CA361027290 | PITX1 | c.891C>G (p.Tyr297Ter)
| |
| 5 | g.135028833G= | CA1584338795 | PITX1 | c.891C= (p.Tyr297=)
| |
| 5 | g.135028833G>T | CA361027291 | PITX1 | c.891C>A (p.Tyr297Ter)
| |
| 5 | g.135028834T>A | CA361027292 | PITX1 | c.890A>T (p.Tyr297Phe)
| |
| 5 | g.135028834T>C | CA361027293 | PITX1 | c.890A>G (p.Tyr297Cys)
| COSMIC |
| 5 | g.135028834T>G | CA361027294 | PITX1 | c.890A>C (p.Tyr297Ser)
| gnomAD v4 |
| 5 | g.135028835A= | CA1584338797 | PITX1 | c.889T= (p.Tyr297=)
| |
| 5 | g.135028835A>C | CA361027295 | PITX1 | c.889T>G (p.Tyr297Asp)
| |
| 5 | g.135028835A>G | CA361027296 | PITX1 | c.889T>C (p.Tyr297His)
| |
| 5 | g.135028835A>T | CA361027297 | PITX1 | c.889T>A (p.Tyr297Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028836G>A | CA446781737 | PITX1 | c.888C>T (p.Gly296=)
| dbSNP gnomAD v2 |
| 5 | g.135028836G>C | CA446781733 | PITX1 | c.888C>G (p.Gly296=)
| |
| 5 | g.135028836G= | CA1584338799 | PITX1 | c.888C= (p.Gly296=)
| |
| 5 | g.135028836G>T | CA446781735 | PITX1 | c.888C>A (p.Gly296=)
| |
| 5 | g.135028837C>A | CA361027300 | PITX1 | c.887G>T (p.Gly296Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028837C= | CA1584338803 | PITX1 | c.887G= (p.Gly296=)
| |
| 5 | g.135028837C>G | CA361027299 | PITX1 | c.887G>C (p.Gly296Ala)
| |
| 5 | g.135028837C>T | CA361027298 | PITX1 | c.887G>A (p.Gly296Asp)
| gnomAD v4 |
| 5 | g.135028838C>A | CA361027303 | PITX1 | c.886G>T (p.Gly296Cys)
| |
| 5 | g.135028838C>G | CA361027301 | PITX1 | c.886G>C (p.Gly296Arg)
| |
| 5 | g.135028838C>T | CA361027302 | PITX1 | c.886G>A (p.Gly296Ser)
| |
| 5 | g.135028839A= | CA1584338806 | PITX1 | c.885T= (p.Phe295=)
| |
| 5 | g.135028839A>C | CA361027304 | PITX1 | c.885T>G (p.Phe295Leu)
| |
| 5 | g.135028839A>G | CA446781748 | PITX1 | c.885T>C (p.Phe295=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028839A>T | CA361027305 | PITX1 | c.885T>A (p.Phe295Leu)
| |
| 5 | g.135028840A>C | CA361027306 | PITX1 | c.884T>G (p.Phe295Cys)
| |
| 5 | g.135028840A>G | CA361027307 | PITX1 | c.884T>C (p.Phe295Ser)
| gnomAD v4 |
| 5 | g.135028840A>T | CA361027308 | PITX1 | c.884T>A (p.Phe295Tyr)
| gnomAD v4 |
| 5 | g.135028841A= | CA1584338811 | PITX1 | c.883T= (p.Phe295=)
| |
| 5 | g.135028841A>C | CA361027309 | PITX1 | c.883T>G (p.Phe295Val)
| |
| 5 | g.135028841A>G | CA3417527 | PITX1 | c.883T>C (p.Phe295Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028841A>T | CA361027310 | PITX1 | c.883T>A (p.Phe295Ile)
| |
| 5 | g.135028845_135028847del | CA2675353691 | PITX1 | c.881_883del (p.Ser294del)
| gnomAD v4 |
| 5 | g.135028842C>A | CA446781761 | PITX1 | c.882G>T (p.Ser294=)
| |
| 5 | g.135028842C= | CA1584338815 | PITX1 | c.882G= (p.Ser294=)
| |
| 5 | g.135028842C>G | CA3417528 | PITX1 | c.882G>C (p.Ser294=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028842C>T | CA446781763 | PITX1 | c.882G>A (p.Ser294=)
| gnomAD v4 COSMIC |
| 5 | g.135028843G>A | CA3417529 | PITX1 | c.881C>T (p.Ser294Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028843G>C | CA361027311 | PITX1 | c.881C>G (p.Ser294Trp)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028843G= | CA1584338821 | PITX1 | c.881C= (p.Ser294=)
| |
| 5 | g.135028843G>T | CA128009231 | PITX1 | c.881C>A (p.Ser294Ter)
| dbSNP |
| 5 | g.135028844A>C | CA361027314 | PITX1 | c.880T>G (p.Ser294Ala)
| |
| 5 | g.135028844A>G | CA361027312 | PITX1 | c.880T>C (p.Ser294Pro)
| |
| 5 | g.135028844A>T | CA361027313 | PITX1 | c.880T>A (p.Ser294Thr)
| |
| 5 | g.135028845C>A | CA446781778 | PITX1 | c.879G>T (p.Ser293=)
| gnomAD v4 |
| 5 | g.135028845C= | CA1584338825 | PITX1 | c.879G= (p.Ser293=)
| |
| 5 | g.135028845C>G | CA3417530 | PITX1 | c.879G>C (p.Ser293=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028845C>T | CA3417531 | PITX1 | c.879G>A (p.Ser293=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028846G>A | CA361027315 | PITX1 | c.878C>T (p.Ser293Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028846G>C | CA361027316 | PITX1 | c.878C>G (p.Ser293Trp)
| |
| 5 | g.135028846G= | CA1584338830 | PITX1 | c.878C= (p.Ser293=)
| |
| 5 | g.135028846G>T | CA361027317 | PITX1 | c.878C>A (p.Ser293Ter)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028847A>C | CA361027318 | PITX1 | c.877T>G (p.Ser293Ala)
| |
| 5 | g.135028847A>G | CA361027319 | PITX1 | c.877T>C (p.Ser293Pro)
| gnomAD v4 |
| 5 | g.135028847A>T | CA361027320 | PITX1 | c.877T>A (p.Ser293Thr)
| |
| 5 | g.135028848G>A | CA446781790 | PITX1 | c.876C>T (p.His292=)
| |
| 5 | g.135028848G>C | CA361027321 | PITX1 | c.876C>G (p.His292Gln)
| |
| 5 | g.135028848G= | CA1584338832 | PITX1 | c.876C= (p.His292=)
| |
| 5 | g.135028848G>T | CA128009249 | PITX1 | c.876C>A (p.His292Gln)
| dbSNP |
| 5 | g.135028849T>A | CA361027322 | PITX1 | c.875A>T (p.His292Leu)
| |
| 5 | g.135028849T>C | CA361027323 | PITX1 | c.875A>G (p.His292Arg)
| gnomAD v4 |
| 5 | g.135028849T>G | CA361027324 | PITX1 | c.875A>C (p.His292Pro)
| |
| 5 | g.135028851_135028853del | CA2768505078 | PITX1 | c.873_875del (p.Gln291del)
| |
| 5 | g.135028850G>A | CA361027325 | PITX1 | c.874C>T (p.His292Tyr)
| |
| 5 | g.135028850G>C | CA361027327 | PITX1 | c.874C>G (p.His292Asp)
| |
| 5 | g.135028850G>T | CA361027326 | PITX1 | c.874C>A (p.His292Asn)
| |
| 5 | g.135028851C>A | CA361027328 | PITX1 | c.873G>T (p.Gln291His)
| |
| 5 | g.135028851C>G | CA361027329 | PITX1 | c.873G>C (p.Gln291His)
| |
| 5 | g.135028851C>T | CA446781807 | PITX1 | c.873G>A (p.Gln291=)
| |
| 5 | g.135028852T>A | CA361027330 | PITX1 | c.872A>T (p.Gln291Leu)
| |
| 5 | g.135028852T>C | CA361027331 | PITX1 | c.872A>G (p.Gln291Arg)
| |
| 5 | g.135028852T>G | CA361027332 | PITX1 | c.872A>C (p.Gln291Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028852T= | CA1584338834 | PITX1 | c.872A= (p.Gln291=)
| |
| 5 | g.135028853G>A | CA361027333 | PITX1 | c.871C>T (p.Gln291Ter)
| dbSNP gnomAD v2 |
| 5 | g.135028853G>C | CA361027334 | PITX1 | c.871C>G (p.Gln291Glu)
| |
| 5 | g.135028853G= | CA1584338839 | PITX1 | c.871C= (p.Gln291=)
| |
| 5 | g.135028853G>T | CA361027335 | PITX1 | c.871C>A (p.Gln291Lys)
| |
| 5 | g.135028854T>A | CA361027336 | PITX1 | c.870A>T (p.Lys290Asn)
| |
| 5 | g.135028854T>C | CA446781820 | PITX1 | c.870A>G (p.Lys290=)
| |
| 5 | g.135028854T>G | CA361027337 | PITX1 | c.870A>C (p.Lys290Asn)
| |
| 5 | g.135028855T>A | CA361027338 | PITX1 | c.869A>T (p.Lys290Ile)
| |
| 5 | g.135028855T>C | CA361027339 | PITX1 | c.869A>G (p.Lys290Arg)
| dbSNP gnomAD v4 |
| 5 | g.135028855T>G | CA361027340 | PITX1 | c.869A>C (p.Lys290Thr)
| |
| 5 | g.135028855T= | CA1584338843 | PITX1 | c.869A= (p.Lys290=)
| |
| 5 | g.135028856T>A | CA361027341 | PITX1 | c.868A>T (p.Lys290Ter)
| |
| 5 | g.135028856T>C | CA361027343 | PITX1 | c.868A>G (p.Lys290Glu)
| gnomAD v4 |
| 5 | g.135028856T>G | CA361027342 | PITX1 | c.868A>C (p.Lys290Gln)
| |
| 5 | g.135028857G>A | CA446781833 | PITX1 | c.867C>T (p.Ser289=)
| |
| 5 | g.135028857G>C | CA446781835 | PITX1 | c.867C>G (p.Ser289=)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028857G= | CA1584338845 | PITX1 | c.867C= (p.Ser289=)
| |
| 5 | g.135028857G>T | CA446781837 | PITX1 | c.867C>A (p.Ser289=)
| |
| 5 | g.135028858G>A | CA361027344 | PITX1 | c.866C>T (p.Ser289Phe)
| |
| 5 | g.135028858G>C | CA361027345 | PITX1 | c.866C>G (p.Ser289Cys)
| |
| 5 | g.135028858G>T | CA361027346 | PITX1 | c.866C>A (p.Ser289Tyr)
| |
| 5 | g.135028859A= | CA1584338849 | PITX1 | c.865T= (p.Ser289=)
| |
| 5 | g.135028859A>C | CA128009252 | PITX1 | c.865T>G (p.Ser289Ala)
| dbSNP gnomAD v4 |
| 5 | g.135028859A>G | CA361027347 | PITX1 | c.865T>C (p.Ser289Pro)
| gnomAD v4 |
| 5 | g.135028859A>T | CA361027348 | PITX1 | c.865T>A (p.Ser289Thr)
| |
| 5 | g.135028860C>A | CA361027349 | PITX1 | c.864G>T (p.Lys288Asn)
| |
| 5 | g.135028860C= | CA1584338854 | PITX1 | c.864G= (p.Lys288=)
| |
| 5 | g.135028860C>G | CA361027350 | PITX1 | c.864G>C (p.Lys288Asn)
| |
| 5 | g.135028860C>T | CA446781855 | PITX1 | c.864G>A (p.Lys288=)
| dbSNP gnomAD v4 |
| 5 | g.135028861T>A | CA361027351 | PITX1 | c.863A>T (p.Lys288Met)
| gnomAD v4 |
| 5 | g.135028861T>C | CA361027352 | PITX1 | c.863A>G (p.Lys288Arg)
| gnomAD v4 |
| 5 | g.135028861T>G | CA361027353 | PITX1 | c.863A>C (p.Lys288Thr)
| |
| 5 | g.135028862T>A | CA361027355 | PITX1 | c.862A>T (p.Lys288Ter)
| |
| 5 | g.135028862T>C | CA361027356 | PITX1 | c.862A>G (p.Lys288Glu)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028862T>G | CA361027354 | PITX1 | c.862A>C (p.Lys288Gln)
| gnomAD v4 |
| 5 | g.135028862T= | CA1584338857 | PITX1 | c.862A= (p.Lys288=)
| |
| 5 | g.135028863G>A | CA446781869 | PITX1 | c.861C>T (p.Leu287=)
| dbSNP gnomAD v4 |
| 5 | g.135028863G>C | CA3417532 | PITX1 | c.861C>G (p.Leu287=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028863G= | CA1584338861 | PITX1 | c.861C= (p.Leu287=)
| |
| 5 | g.135028863G>T | CA446781867 | PITX1 | c.861C>A (p.Leu287=)
| |
| 5 | g.135028864A= | CA1584338864 | PITX1 | c.860T= (p.Leu287=)
| |
| 5 | g.135028864A>C | CA3417533 | PITX1 | c.860T>G (p.Leu287Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135028864A>G | CA361027357 | PITX1 | c.860T>C (p.Leu287Pro)
| |
| 5 | g.135028864A>T | CA361027358 | PITX1 | c.860T>A (p.Leu287His)
| |
| 5 | g.135028865G>A | CA361027359 | PITX1 | c.859C>T (p.Leu287Phe)
| |
| 5 | g.135028865G>C | CA361027360 | PITX1 | c.859C>G (p.Leu287Val)
| |
| 5 | g.135028865G>T | CA361027361 | PITX1 | c.859C>A (p.Leu287Ile)
| |
| 5 | g.135028866C>A | CA446781886 | PITX1 | c.858G>T (p.Arg286=)
| |
| 5 | g.135028866C= | CA1584338868 | PITX1 | c.858G= (p.Arg286=)
| |
| 5 | g.135028866C>G | CA446781884 | PITX1 | c.858G>C (p.Arg286=)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028866C>T | CA3417534 | PITX1 | c.858G>A (p.Arg286=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135028867C>A | CA361027362 | PITX1 | c.857G>T (p.Arg286Leu)
| |
| 5 | g.135028867C= | CA1584338871 | PITX1 | c.857G= (p.Arg286=)
| |
| 5 | g.135028867C>G | CA361027363 | PITX1 | c.857G>C (p.Arg286Pro)
| |
| 5 | g.135028867C>T | CA3417535 | PITX1 | c.857G>A (p.Arg286Gln)
| dbSNP ExAC gnomAD v2 |
| 5 | g.135028868G>A | CA361027364 | PITX1 | c.856C>T (p.Arg286Trp)
| gnomAD v4 |
| 5 | g.135028868G>C | CA361027365 | PITX1 | c.856C>G (p.Arg286Gly)
| |
| 5 | g.135028868G>T | CA446781896 | PITX1 | c.856C>A (p.Arg286=)
| gnomAD v4 COSMIC |
| 5 | g.135028869C>A | CA446781899 | PITX1 | c.855G>T (p.Leu285=)
| |
| 5 | g.135028869C= | CA1584338873 | PITX1 | c.855G= (p.Leu285=)
| |
| 5 | g.135028869C>G | CA3417536 | PITX1 | c.855G>C (p.Leu285=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028869C>T | CA446781901 | PITX1 | c.855G>A (p.Leu285=)
| |
| 5 | g.135028869_135028878delinsCAGGCTGGCT | CA1584338874 | PITX1 | c.846_855delinsAGCCAGCCTG (p.Leu282=)
| |
| 5 | g.135028870A>C | CA361027368 | PITX1 | c.854T>G (p.Leu285Arg)
| |
| 5 | g.135028870A>G | CA361027367 | PITX1 | c.854T>C (p.Leu285Pro)
| |
| 5 | g.135028870A>T | CA361027366 | PITX1 | c.854T>A (p.Leu285Gln)
| |
| 5 | g.135028875_135028883del | CA1584338875 | PITX1 | c.846_854del (p.Ala283_Leu285del)
| dbSNP |
| 5 | g.135028871G>A | CA446781910 | PITX1 | c.853C>T (p.Leu285=)
| gnomAD v4 |
| 5 | g.135028871G>C | CA361027369 | PITX1 | c.853C>G (p.Leu285Val)
| |
| 5 | g.135028871G>T | CA361027370 | PITX1 | c.853C>A (p.Leu285Met)
| |
| 5 | g.135028872G>A | CA128009285 | PITX1 | c.852C>T (p.Ser284=)
| dbSNP gnomAD v4 |
| 5 | g.135028872G>C | CA361027371 | PITX1 | c.852C>G (p.Ser284Arg)
| |
| 5 | g.135028872G= | CA1584338877 | PITX1 | c.852C= (p.Ser284=)
| |
| 5 | g.135028872G>T | CA361027372 | PITX1 | c.852C>A (p.Ser284Arg)
| |
| 5 | g.135028873C>A | CA361027373 | PITX1 | c.851G>T (p.Ser284Ile)
| |
| 5 | g.135028873C>G | CA361027374 | PITX1 | c.851G>C (p.Ser284Thr)
| gnomAD v4 |
| 5 | g.135028873C>T | CA361027375 | PITX1 | c.851G>A (p.Ser284Asn)
| gnomAD v4 |
| 5 | g.135028874T>A | CA361027376 | PITX1 | c.850A>T (p.Ser284Cys)
| |
| 5 | g.135028874T>C | CA361027377 | PITX1 | c.850A>G (p.Ser284Gly)
| |
| 5 | g.135028874T>G | CA361027378 | PITX1 | c.850A>C (p.Ser284Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028874T= | CA1584338882 | PITX1 | c.850A= (p.Ser284=)
| |
| 5 | g.135028874_135028877delinsTGGC | CA1584338883 | PITX1 | c.847_850delinsGCCA (p.Ala283=)
| |
| 5 | g.135028875G>A | CA3417537 | PITX1 | c.849C>T (p.Ala283=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135028875G>C | CA446781928 | PITX1 | c.849C>G (p.Ala283=)
| |
| 5 | g.135028875G= | CA1584338885 | PITX1 | c.849C= (p.Ala283=)
| |
| 5 | g.135028875G>T | CA446781930 | PITX1 | c.849C>A (p.Ala283=)
| |
| 5 | g.135028875_135028877del | CA1081831693 | PITX1 | c.847_849del (p.Ala283del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028876G>A | CA361027380 | PITX1 | c.848C>T (p.Ala283Val)
| gnomAD v4 |
| 5 | g.135028876G>C | CA361027381 | PITX1 | c.848C>G (p.Ala283Gly)
| |
| 5 | g.135028876G>T | CA361027379 | PITX1 | c.848C>A (p.Ala283Asp)
| |
| 5 | g.135028877C>A | CA361027382 | PITX1 | c.847G>T (p.Ala283Ser)
| |
| 5 | g.135028877C>G | CA361027383 | PITX1 | c.847G>C (p.Ala283Pro)
| |
| 5 | g.135028877C>T | CA361027384 | PITX1 | c.847G>A (p.Ala283Thr)
| gnomAD v4 |
| 5 | g.135028878T>A | CA446781942 | PITX1 | c.846A>T (p.Leu282=)
| |
| 5 | g.135028878T>C | CA446781944 | PITX1 | c.846A>G (p.Leu282=)
| |
| 5 | g.135028878T>G | CA446781947 | PITX1 | c.846A>C (p.Leu282=)
| |
| 5 | g.135028878_135028884delinsTAGGCTC | CA1584338887 | PITX1 | c.840_846delinsGAGCCTA (p.Ser280=)
| |
| 5 | g.135028879A>C | CA361027385 | PITX1 | c.845T>G (p.Leu282Arg)
| |
| 5 | g.135028879A>G | CA361027386 | PITX1 | c.845T>C (p.Leu282Pro)
| gnomAD v4 |
| 5 | g.135028879A>T | CA361027387 | PITX1 | c.845T>A (p.Leu282Gln)
| |
| 5 | g.135028879_135028884del | CA1081831694 | PITX1 | c.840_845del (p.Ser281_Leu282del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028880G>A | CA446781954 | PITX1 | c.844C>T (p.Leu282=)
| gnomAD v4 |
| 5 | g.135028880G>C | CA361027388 | PITX1 | c.844C>G (p.Leu282Val)
| dbSNP |
| 5 | g.135028880G= | CA1584338890 | PITX1 | c.844C= (p.Leu282=)
| |
| 5 | g.135028880G>T | CA361027389 | PITX1 | c.844C>A (p.Leu282Ile)
| |
| 5 | g.135028881G>A | CA446781959 | PITX1 | c.843C>T (p.Ser281=)
| gnomAD v4 |
| 5 | g.135028881G>C | CA361027390 | PITX1 | c.843C>G (p.Ser281Arg)
| |
| 5 | g.135028881G>T | CA361027391 | PITX1 | c.843C>A (p.Ser281Arg)
| |
| 5 | g.135028882C>A | CA361027392 | PITX1 | c.842G>T (p.Ser281Ile)
| |
| 5 | g.135028882C>G | CA361027393 | PITX1 | c.842G>C (p.Ser281Thr)
| gnomAD v4 |
| 5 | g.135028882C>T | CA361027394 | PITX1 | c.842G>A (p.Ser281Asn)
| |
| 5 | g.135028883T>A | CA361027395 | PITX1 | c.841A>T (p.Ser281Cys)
| |
| 5 | g.135028883T>C | CA361027397 | PITX1 | c.841A>G (p.Ser281Gly)
| |
| 5 | g.135028883T>G | CA361027396 | PITX1 | c.841A>C (p.Ser281Arg)
| |
| 5 | g.135028884C>A | CA446781976 | PITX1 | c.840G>T (p.Ser280=)
| |
| 5 | g.135028884C= | CA1584338892 | PITX1 | c.840G= (p.Ser280=)
| |
| 5 | g.135028884C>G | CA446781972 | PITX1 | c.840G>C (p.Ser280=)
| gnomAD v4 |
| 5 | g.135028884C>T | CA3417538 | PITX1 | c.840G>A (p.Ser280=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135028885G>A | CA361027398 | PITX1 | c.839C>T (p.Ser280Leu)
| |
| 5 | g.135028885G>C | CA361027399 | PITX1 | c.839C>G (p.Ser280Trp)
| |
| 5 | g.135028885G>T | CA361027400 | PITX1 | c.839C>A (p.Ser280Ter)
| |
| 5 | g.135028886A>C | CA361027401 | PITX1 | c.838T>G (p.Ser280Ala)
| |
| 5 | g.135028886A>G | CA361027402 | PITX1 | c.838T>C (p.Ser280Pro)
| |
| 5 | g.135028886A>T | CA361027403 | PITX1 | c.838T>A (p.Ser280Thr)
| |
| 5 | g.135028887G>A | CA446781987 | PITX1 | c.837C>T (p.Asn279=)
| |
| 5 | g.135028887G>C | CA361027404 | PITX1 | c.837C>G (p.Asn279Lys)
| |
| 5 | g.135028887G>T | CA361027405 | PITX1 | c.837C>A (p.Asn279Lys)
| |
| 5 | g.135028888T>A | CA361027406 | PITX1 | c.836A>T (p.Asn279Ile)
| |
| 5 | g.135028888T>C | CA361027407 | PITX1 | c.836A>G (p.Asn279Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028888T>G | CA361027408 | PITX1 | c.836A>C (p.Asn279Thr)
| |
| 5 | g.135028888T= | CA1584338896 | PITX1 | c.836A= (p.Asn279=)
| |
| 5 | g.135028889T>A | CA361027410 | PITX1 | c.835A>T (p.Asn279Tyr)
| |
| 5 | g.135028889T>C | CA361027411 | PITX1 | c.835A>G (p.Asn279Asp)
| |
| 5 | g.135028889T>G | CA361027409 | PITX1 | c.835A>C (p.Asn279His)
| |
