| 5 | g.135028429_135028460delinsGCGTGCCCTCCGCGGAGTGGGCCTCCGGGGCC | CA1584336037 | PITX1 | c.*319_*350delinsGGCCCCGGAGGCCCACTCCGCGGAGGGCACGC (n.*319_*350delinsGGCCCCGGAGGCCCACTCCGCGGAGGGCACGC)
| |
| 5 | g.135028434_135028464del | CA804232264 | PITX1 | c.*319_*349del (n.*319_*349del)
| dbSNP |
| 5 | g.135028459C>A | CA804232297 | PITX1 | c.*320G>T (n.*320G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028459C= | CA1584336056 | PITX1 | c.*320G= (n.*320G=)
| |
| 5 | g.135028459C>T | CA2675353338 | PITX1 | c.*320G>A (n.*320G>A)
| gnomAD v4 |
| 5 | g.135028460C>A | CA2675353339 | PITX1 | c.*319G>T (n.*319G>T)
| gnomAD v4 |
| 5 | g.135028460C= | CA1584336057 | PITX1 | c.*319G= (n.*319G=)
| |
| 5 | g.135028460C>T | CA128008887 | PITX1 | c.*319G>A (n.*319G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028461C>A | CA2675353340 | PITX1 | c.*318G>T (n.*318G>T)
| gnomAD v4 |
| 5 | g.135028461C= | CA1584336058 | PITX1 | c.*318G= (n.*318G=)
| |
| 5 | g.135028461C>T | CA128008896 | PITX1 | c.*318G>A (n.*318G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028462G>A | CA2544323263 | PITX1 | c.*317C>T (n.*317C>T)
| gnomAD v4 |
| 5 | g.135028462G>C | CA2675353341 | PITX1 | c.*317C>G (n.*317C>G)
| gnomAD v4 |
| 5 | g.135028462G= | CA1584336059 | PITX1 | c.*317C= (n.*317C=)
| |
| 5 | g.135028462G>T | CA1081831131 | PITX1 | c.*317C>A (n.*317C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028463T>A | CA2675353342 | PITX1 | c.*316A>T (n.*316A>T)
| gnomAD v4 |
| 5 | g.135028463T>C | CA2675353343 | PITX1 | c.*316A>G (n.*316A>G)
| gnomAD v4 |
| 5 | g.135028463T>G | CA2675353344 | PITX1 | c.*316A>C (n.*316A>C)
| gnomAD v4 |
| 5 | g.135028464G>T | CA2675353346 | PITX1 | c.*315C>A (n.*315C>A)
| gnomAD v4 |
| 5 | g.135028466dup | CA2675353345 | PITX1 | c.*315dup (n.*315dup)
| gnomAD v4 |
| 5 | g.135028465G>C | CA2675353347 | PITX1 | c.*314C>G (n.*314C>G)
| gnomAD v4 |
| 5 | g.135028465G= | CA1584336060 | PITX1 | c.*314C= (n.*314C=)
| |
| 5 | g.135028465G>T | CA2675353348 | PITX1 | c.*314C>A (n.*314C>A)
| gnomAD v4 |
| 5 | g.135028466G>T | CA2675353349 | PITX1 | c.*313C>A (n.*313C>A)
| gnomAD v4 |
| 5 | g.135028466_135028467dup | CA562836044 | PITX1 | c.*312_*313dup (n.*312_*313dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028466_135028467insC | CA2675353350 | PITX1 | c.*312_*313insG (n.*312_*313insG)
| gnomAD v4 |
| 5 | g.135028466_135028467insT | CA2675353351 | PITX1 | c.*312_*313insA (n.*312_*313insA)
| gnomAD v4 |
| 5 | g.135028467A= | CA1584336061 | PITX1 | c.*312T= (n.*312T=)
| |
| 5 | g.135028467A>C | CA1584336062 | PITX1 | c.*312T>G (n.*312T>G)
| dbSNP gnomAD v4 |
| 5 | g.135028467_135028468insC | CA2604555968 | PITX1 | c.*311_*312insG (n.*311_*312insG)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028467_135028468insCC | CA1584336063 | PITX1 | c.*311_*312insGG (n.*311_*312insGG)
| dbSNP gnomAD v4 |
| 5 | g.135028467_135028468insGC | CA2604555969 | PITX1 | c.*311_*312insGC (n.*311_*312insGC)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028467_135028468insCCAC | CA2675353354 | PITX1 | c.*311_*312insGTGG (n.*311_*312insGTGG)
| gnomAD v4 |
| 5 | g.135028468A= | CA1584336064 | PITX1 | c.*311T= (n.*311T=)
| |
| 5 | g.135028468A>C | CA2675353352 | PITX1 | c.*311T>G (n.*311T>G)
| gnomAD v4 |
| 5 | g.135028468A>G | CA2768505056 | PITX1 | c.*311T>C (n.*311T>C)
| |
| 5 | g.135028468_135028469insACA | CA804232306 | PITX1 | c.*311_*312insGTT (n.*311_*312insGTT)
| dbSNP |
| 5 | g.135028476_135028477dup | CA128008899 | PITX1 | c.*310_*311dup (n.*310_*311dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 5 | g.135028474_135028477dup | CA562836048 | PITX1 | c.*308_*311dup (n.*308_*311dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028476_135028477del | CA2675353353 | PITX1 | c.*310_*311del (n.*310_*311del)
| gnomAD v4 |
| 5 | g.135028469C= | CA1584336065 | PITX1 | c.*310G= (n.*310G=)
| |
| 5 | g.135028469_135028470insCC | CA917587363 | PITX1 | c.*310_*311insGG (n.*310_*311insGG)
| dbSNP gnomAD v4 |
| 5 | g.135028470A= | CA1584336066 | PITX1 | c.*309T= (n.*309T=)
| |
| 5 | g.135028470A>C | CA2675353356 | PITX1 | c.*309T>G (n.*309T>G)
| gnomAD v4 |
| 5 | g.135028470_135028471insAA | CA2675353355 | PITX1 | c.*309_*310insTT (n.*309_*310insTT)
| gnomAD v4 |
| 5 | g.135028470_135028471insTA | CA804232309 | PITX1 | c.*309_*310insAT (n.*309_*310insAT)
| dbSNP gnomAD v4 |
| 5 | g.135028471_135028472insCC | CA804232317 | PITX1 | c.*308_*309insGG (n.*308_*309insGG)
| dbSNP |
| 5 | g.135028472A= | CA1584336067 | PITX1 | c.*307T= (n.*307T=)
| |
| 5 | g.135028472_135028473insAA | CA2675353357 | PITX1 | c.*307_*308insTT (n.*307_*308insTT)
| gnomAD v4 |
| 5 | g.135028473_135028474insCC | CA917587366 | PITX1 | c.*306_*307insGG (n.*306_*307insGG)
| dbSNP gnomAD v4 |
| 5 | g.135028474A= | CA1584336068 | PITX1 | c.*305T= (n.*305T=)
| |
| 5 | g.135028474_135028475insAA | CA2710326280 | PITX1 | c.*305_*306insTT (n.*305_*306insTT)
| dbSNP |
| 5 | g.135028474_135028475insTA | CA2675353358 | PITX1 | c.*305_*306insAT (n.*305_*306insAT)
| gnomAD v4 |
| 5 | g.135028475_135028476insCC | CA917587367 | PITX1 | c.*304_*305insGG (n.*304_*305insGG)
| dbSNP gnomAD v4 |
| 5 | g.135028476A= | CA1584336069 | PITX1 | c.*303T= (n.*303T=)
| |
| 5 | g.135028476_135028477insAA | CA2675353359 | PITX1 | c.*303_*304insTT (n.*303_*304insTT)
| gnomAD v4 |
| 5 | g.135028476_135028477insAC | CA128008908 | PITX1 | c.*302_*303insGT (n.*302_*303insGT)
| dbSNP |
| 5 | g.135028477C>A | CA2675353361 | PITX1 | c.*302G>T (n.*302G>T)
| gnomAD v4 |
| 5 | g.135028477C= | CA1584336070 | PITX1 | c.*302G= (n.*302G=)
| |
| 5 | g.135028477_135028478dup | CA917587370 | PITX1 | c.*301_*302dup (n.*301_*302dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028478del | CA2675353360 | PITX1 | c.*302del (n.*302del)
| gnomAD v4 |
| 5 | g.135028477_135028478insA | CA2675353362 | PITX1 | c.*301_*302insT (n.*301_*302insT)
| gnomAD v4 |
| 5 | g.135028477_135028478insAA | CA1081831137 | PITX1 | c.*301_*302insTT (n.*301_*302insTT)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028477_135028478insAT | CA917587372 | PITX1 | c.*301_*302insAT (n.*301_*302insAT)
| dbSNP gnomAD v4 |
| 5 | g.135028478C>A | CA1584336072 | PITX1 | c.*301G>T (n.*301G>T)
| dbSNP |
| 5 | g.135028478C= | CA1584336071 | PITX1 | c.*301G= (n.*301G=)
| |
| 5 | g.135028478_135028479insG | CA2675353364 | PITX1 | c.*300_*301insC (n.*300_*301insC)
| gnomAD v4 |
| 5 | g.135028479A= | CA1584336073 | PITX1 | c.*300T= (n.*300T=)
| |
| 5 | g.135028479A>C | CA804232320 | PITX1 | c.*300T>G (n.*300T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028479A>G | CA804232322 | PITX1 | c.*300T>C (n.*300T>C)
| dbSNP |
| 5 | g.135028479A>T | CA2675353365 | PITX1 | c.*300T>A (n.*300T>A)
| gnomAD v4 |
| 5 | g.135028479dup | CA2675353363 | PITX1 | c.*300dup (n.*300dup)
| gnomAD v4 |
| 5 | g.135028480C= | CA1584336074 | PITX1 | c.*299G= (n.*299G=)
| |
| 5 | g.135028480C>T | CA128008913 | PITX1 | c.*299G>A (n.*299G>A)
| dbSNP |
| 5 | g.135028481C>A | CA128008919 | PITX1 | c.*298G>T (n.*298G>T)
| dbSNP gnomAD v4 |
| 5 | g.135028481C= | CA1584336075 | PITX1 | c.*298G= (n.*298G=)
| |
| 5 | g.135028481C>T | CA804232325 | PITX1 | c.*298G>A (n.*298G>A)
| dbSNP gnomAD v4 |
| 5 | g.135028482C>A | CA1584336076 | PITX1 | c.*297G>T (n.*297G>T)
| dbSNP gnomAD v4 |
| 5 | g.135028482C= | CA1584336077 | PITX1 | c.*297G= (n.*297G=)
| |
| 5 | g.135028482C>T | CA804232328 | PITX1 | c.*297G>A (n.*297G>A)
| dbSNP gnomAD v4 |
| 5 | g.135028483G>A | CA804232336 | PITX1 | c.*296C>T (n.*296C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028483G>C | CA128008922 | PITX1 | c.*296C>G (n.*296C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028483G= | CA1584336078 | PITX1 | c.*296C= (n.*296C=)
| |
| 5 | g.135028483G>T | CA2675353366 | PITX1 | c.*296C>A (n.*296C>A)
| gnomAD v4 |
| 5 | g.135028484C>A | CA1081831145 | PITX1 | c.*295G>T (n.*295G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028484C= | CA1584336079 | PITX1 | c.*295G= (n.*295G=)
| |
| 5 | g.135028484C>T | CA804232339 | PITX1 | c.*295G>A (n.*295G>A)
| dbSNP gnomAD v4 |
| 5 | g.135028485G>A | CA2675353367 | PITX1 | c.*294C>T (n.*294C>T)
| gnomAD v4 |
| 5 | g.135028485G>T | CA2675353368 | PITX1 | c.*294C>A (n.*294C>A)
| gnomAD v4 |
| 5 | g.135028486C>A | CA2675353369 | PITX1 | c.*293G>T (n.*293G>T)
| gnomAD v4 |
| 5 | g.135028487C>A | CA2675353370 | PITX1 | c.*292G>T (n.*292G>T)
| gnomAD v4 |
| 5 | g.135028488A>C | CA2675353372 | PITX1 | c.*291T>G (n.*291T>G)
| gnomAD v4 |
| 5 | g.135028488_135028489del | CA2675353371 | PITX1 | c.*290_*291del (n.*290_*291del)
| gnomAD v4 |
| 5 | g.135028489T>A | CA2675353373 | PITX1 | c.*290A>T (n.*290A>T)
| gnomAD v4 |
| 5 | g.135028489T>C | CA2675353374 | PITX1 | c.*290A>G (n.*290A>G)
| gnomAD v4 |
| 5 | g.135028489T>G | CA2675353375 | PITX1 | c.*290A>C (n.*290A>C)
| gnomAD v4 |
| 5 | g.135028490C= | CA1584336080 | PITX1 | c.*289G= (n.*289G=)
| |
| 5 | g.135028490C>G | CA562836050 | PITX1 | c.*289G>C (n.*289G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028490C>T | CA2675353376 | PITX1 | c.*289G>A (n.*289G>A)
| gnomAD v4 |
| 5 | g.135028491C>A | CA2675353377 | PITX1 | c.*288G>T (n.*288G>T)
| gnomAD v4 |
| 5 | g.135028491C>T | CA2675353378 | PITX1 | c.*288G>A (n.*288G>A)
| gnomAD v4 |
| 5 | g.135028492C>A | CA1584336083 | PITX1 | c.*287G>T (n.*287G>T)
| dbSNP |
| 5 | g.135028492C= | CA1584336081 | PITX1 | c.*287G= (n.*287G=)
| |
| 5 | g.135028492C>T | CA1584336082 | PITX1 | c.*287G>A (n.*287G>A)
| dbSNP gnomAD v4 |
| 5 | g.135028493G>T | CA2675353379 | PITX1 | c.*286C>A (n.*286C>A)
| gnomAD v4 |
| 5 | g.135028494A>C | CA2675353380 | PITX1 | c.*285T>G (n.*285T>G)
| gnomAD v4 |
| 5 | g.135028495G>C | CA1081831152 | PITX1 | c.*284C>G (n.*284C>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028495G= | CA1584336084 | PITX1 | c.*284C= (n.*284C=)
| |
| 5 | g.135028496A= | CA1584336085 | PITX1 | c.*283T= (n.*283T=)
| |
| 5 | g.135028496A>C | CA2675353381 | PITX1 | c.*283T>G (n.*283T>G)
| gnomAD v4 |
| 5 | g.135028496A>G | CA1584336086 | PITX1 | c.*283T>C (n.*283T>C)
| dbSNP |
| 5 | g.135028496A>T | CA2675353382 | PITX1 | c.*283T>A (n.*283T>A)
| gnomAD v4 |
| 5 | g.135028498A= | CA1584336087 | PITX1 | c.*281T= (n.*281T=)
| |
| 5 | g.135028498A>C | CA2675353383 | PITX1 | c.*281T>G (n.*281T>G)
| gnomAD v4 |
| 5 | g.135028498A>G | CA128008927 | PITX1 | c.*281T>C (n.*281T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028499A>C | CA2675353384 | PITX1 | c.*280T>G (n.*280T>G)
| gnomAD v4 |
| 5 | g.135028500A= | CA1584336088 | PITX1 | c.*279T= (n.*279T=)
| |
| 5 | g.135028500A>C | CA2675353385 | PITX1 | c.*279T>G (n.*279T>G)
| gnomAD v4 |
| 5 | g.135028500A>G | CA1081831153 | PITX1 | c.*279T>C (n.*279T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028501T>C | CA128008932 | PITX1 | c.*278A>G (n.*278A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028501T>G | CA2675353386 | PITX1 | c.*278A>C (n.*278A>C)
| gnomAD v4 |
| 5 | g.135028501T= | CA1584336089 | PITX1 | c.*278A= (n.*278A=)
| |
| 5 | g.135028502T>A | CA804232347 | PITX1 | c.*277A>T (n.*277A>T)
| dbSNP |
| 5 | g.135028502T>C | CA2675353387 | PITX1 | c.*277A>G (n.*277A>G)
| gnomAD v4 |
| 5 | g.135028502T>G | CA2675353388 | PITX1 | c.*277A>C (n.*277A>C)
| gnomAD v4 |
| 5 | g.135028502T= | CA1584336090 | PITX1 | c.*277A= (n.*277A=)
| |
| 5 | g.135028503G>A | CA2768505057 | PITX1 | c.*276C>T (n.*276C>T)
| |
| 5 | g.135028503G>C | CA804232359 | PITX1 | c.*276C>G (n.*276C>G)
| dbSNP |
| 5 | g.135028503G= | CA1584336091 | PITX1 | c.*276C= (n.*276C=)
| |
| 5 | g.135028504C= | CA1584336092 | PITX1 | c.*275G= (n.*275G=)
| |
| 5 | g.135028504C>G | CA2768505058 | PITX1 | c.*275G>C (n.*275G>C)
| |
| 5 | g.135028504C>T | CA804232360 | PITX1 | c.*275G>A (n.*275G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028505A>C | CA2675353389 | PITX1 | c.*274T>G (n.*274T>G)
| gnomAD v4 |
| 5 | g.135028506A= | CA1584336093 | PITX1 | c.*273T= (n.*273T=)
| |
| 5 | g.135028506A>C | CA1081831157 | PITX1 | c.*273T>G (n.*273T>G)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028506A>G | CA804232363 | PITX1 | c.*273T>C (n.*273T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028507C>A | CA2675353390 | PITX1 | c.*272G>T (n.*272G>T)
| gnomAD v4 |
| 5 | g.135028508T>A | CA2675353391 | PITX1 | c.*271A>T (n.*271A>T)
| gnomAD v4 |
| 5 | g.135028508T>C | CA1081831163 | PITX1 | c.*271A>G (n.*271A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028508T= | CA1584336094 | PITX1 | c.*271A= (n.*271A=)
| |
| 5 | g.135028509C= | CA1584336095 | PITX1 | c.*270G= (n.*270G=)
| |
| 5 | g.135028509C>T | CA804232364 | PITX1 | c.*270G>A (n.*270G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028510A>C | CA2675353392 | PITX1 | c.*269T>G (n.*269T>G)
| gnomAD v4 |
| 5 | g.135028510A>T | CA1081831169 | PITX1 | c.*269T>A (n.*269T>A)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028511T>C | CA1584336098 | PITX1 | c.*268A>G (n.*268A>G)
| dbSNP |
| 5 | g.135028511T= | CA1584336097 | PITX1 | c.*268A= (n.*268A=)
| |
| 5 | g.135028511_135028514delinsTCCA | CA1584336099 | PITX1 | c.*265_*268delinsTGGA (n.*265_*268delinsTGGA)
| |
| 5 | g.135028511_135028523delinsTCCATTTTTTCGC | CA1584336096 | PITX1 | c.*256_*268delinsGCGAAAAAATGGA (n.*256_*268delinsGCGAAAAAATGGA)
| |
| 5 | g.135028512C>A | CA2675353393 | PITX1 | c.*267G>T (n.*267G>T)
| gnomAD v4 |
| 5 | g.135028512_135028514del | CA1081831172 | PITX1 | c.*265_*267del (n.*265_*267del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028512_135028523del | CA804232365 | PITX1 | c.*256_*267del (n.*256_*267del)
| dbSNP |
| 5 | g.135028513C>A | CA1584336101 | PITX1 | c.*266G>T (n.*266G>T)
| dbSNP |
| 5 | g.135028513C= | CA1584336100 | PITX1 | c.*266G= (n.*266G=)
| |
| 5 | g.135028513_135028514delinsCA | CA1584336102 | PITX1 | c.*265_*266delinsTG (n.*265_*266delinsTG)
| |
| 5 | g.135028514del | CA1584336103 | PITX1 | c.*265del (n.*265del)
| dbSNP |
| 5 | g.135028514A= | CA1584336104 | PITX1 | c.*265T= (n.*265T=)
| |
| 5 | g.135028514A>C | CA1081831175 | PITX1 | c.*265T>G (n.*265T>G)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028514A>T | CA804232367 | PITX1 | c.*265T>A (n.*265T>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028514_135028515delinsAT | CA1584336105 | PITX1 | c.*264_*265delinsAT (n.*264_*265delinsAT)
| |
| 5 | g.135028515T>G | CA562836051 | PITX1 | c.*264A>C (n.*264A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028515T= | CA1584336107 | PITX1 | c.*264A= (n.*264A=)
| |
| 5 | g.135028520dup | CA1584336106 | PITX1 | c.*264dup (n.*264dup)
| dbSNP |
| 5 | g.135028520del | CA128008947 | PITX1 | c.*264del (n.*264del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028515_135028524delinsTTTTTTCGCG | CA1584336108 | PITX1 | c.*255_*264delinsCGCGAAAAAA (n.*255_*264delinsCGCGAAAAAA)
| |
| 5 | g.135028516_135028524del | CA1081831179 | PITX1 | c.*255_*263del (n.*255_*263del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028517T>C | CA804232374 | PITX1 | c.*262A>G (n.*262A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028517T>G | CA2675353394 | PITX1 | c.*262A>C (n.*262A>C)
| gnomAD v4 |
| 5 | g.135028517T= | CA1584336109 | PITX1 | c.*262A= (n.*262A=)
| |
| 5 | g.135028518T>G | CA2675353395 | PITX1 | c.*261A>C (n.*261A>C)
| gnomAD v4 |
| 5 | g.135028519T>G | CA2675353396 | PITX1 | c.*260A>C (n.*260A>C)
| gnomAD v4 |
| 5 | g.135028520T>C | CA804232377 | PITX1 | c.*259A>G (n.*259A>G)
| dbSNP |
| 5 | g.135028520T= | CA1584336110 | PITX1 | c.*259A= (n.*259A=)
| |
| 5 | g.135028520_135028521delinsTC | CA1584336111 | PITX1 | c.*258_*259delinsGA (n.*258_*259delinsGA)
| |
| 5 | g.135028521del | CA1081831180 | PITX1 | c.*258del (n.*258del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028521C>A | CA2675353397 | PITX1 | c.*258G>T (n.*258G>T)
| gnomAD v4 |
| 5 | g.135028522G>A | CA804232380 | PITX1 | c.*257C>T (n.*257C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028522G>C | CA804232382 | PITX1 | c.*257C>G (n.*257C>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028522G= | CA1584336112 | PITX1 | c.*257C= (n.*257C=)
| |
| 5 | g.135028522G>T | CA2675353398 | PITX1 | c.*257C>A (n.*257C>A)
| gnomAD v4 |
| 5 | g.135028523C= | CA1584336113 | PITX1 | c.*256G= (n.*256G=)
| |
| 5 | g.135028523C>G | CA804232385 | PITX1 | c.*256G>C (n.*256G>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028523C>T | CA1081831182 | PITX1 | c.*256G>A (n.*256G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028524G>A | CA804232387 | PITX1 | c.*255C>T (n.*255C>T)
| dbSNP gnomAD v4 |
| 5 | g.135028524G= | CA1584336114 | PITX1 | c.*255C= (n.*255C=)
| |
| 5 | g.135028524G>T | CA804232389 | PITX1 | c.*255C>A (n.*255C>A)
| dbSNP |
| 5 | g.135028525G>A | CA2675353399 | PITX1 | c.*254C>T (n.*254C>T)
| gnomAD v4 |
| 5 | g.135028525G= | CA1584336115 | PITX1 | c.*254C= (n.*254C=)
| |
| 5 | g.135028525G>T | CA1584336116 | PITX1 | c.*254C>A (n.*254C>A)
| dbSNP |
| 5 | g.135028527A>C | CA1081831183 | PITX1 | c.*252T>G (n.*252T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028527A>G | CA2768505059 | PITX1 | c.*252T>C (n.*252T>C)
| |
| 5 | g.135028527A>T | CA2675353400 | PITX1 | c.*252T>A (n.*252T>A)
| gnomAD v4 |
| 5 | g.135028528C>A | CA2675353401 | PITX1 | c.*251G>T (n.*251G>T)
| gnomAD v4 |
| 5 | g.135028528C= | CA1584336117 | PITX1 | c.*251G= (n.*251G=)
| |
| 5 | g.135028528C>G | CA804232390 | PITX1 | c.*251G>C (n.*251G>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028530T>G | CA2567884279 | PITX1 | c.*249A>C (n.*249A>C)
| gnomAD v4 |
| 5 | g.135028533C>A | CA2675353402 | PITX1 | c.*246G>T (n.*246G>T)
| gnomAD v4 |
| 5 | g.135028534T>C | CA2675353403 | PITX1 | c.*245A>G (n.*245A>G)
| gnomAD v4 |
| 5 | g.135028535C= | CA1584336118 | PITX1 | c.*244G= (n.*244G=)
| |
| 5 | g.135028535C>T | CA1584336119 | PITX1 | c.*244G>A (n.*244G>A)
| dbSNP |
| 5 | g.135028536C= | CA1584336120 | PITX1 | c.*243G= (n.*243G=)
| |
| 5 | g.135028536C>T | CA804232391 | PITX1 | c.*243G>A (n.*243G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028537G= | CA1584336121 | PITX1 | c.*242C= (n.*242C=)
| |
| 5 | g.135028537G>T | CA562836053 | PITX1 | c.*242C>A (n.*242C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028538A= | CA1584336122 | PITX1 | c.*241T= (n.*241T=)
| |
| 5 | g.135028538A>C | CA1081831189 | PITX1 | c.*241T>G (n.*241T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028538A>T | CA1584336123 | PITX1 | c.*241T>A (n.*241T>A)
| dbSNP gnomAD v4 |
| 5 | g.135028539C= | CA1584336124 | PITX1 | c.*240G= (n.*240G=)
| |
| 5 | g.135028539C>G | CA562836054 | PITX1 | c.*240G>C (n.*240G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028539C>T | CA804232396 | PITX1 | c.*240G>A (n.*240G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028541T>A | CA1584336126 | PITX1 | c.*238A>T (n.*238A>T)
| dbSNP gnomAD v4 |
| 5 | g.135028541T>G | CA2508329950 | PITX1 | c.*238A>C (n.*238A>C)
| gnomAD v4 |
| 5 | g.135028541T= | CA1584336125 | PITX1 | c.*238A= (n.*238A=)
| |
| 5 | g.135028541_135028548delinsTCTTTTTG | CA1584336127 | PITX1 | c.*231_*238delinsCAAAAAGA (n.*231_*238delinsCAAAAAGA)
| |
| 5 | g.135028542C>A | CA1081831192 | PITX1 | c.*237G>T (n.*237G>T)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028542C>G | CA2675353404 | PITX1 | c.*237G>C (n.*237G>C)
| gnomAD v4 |
| 5 | g.135028542C>T | CA1081831193 | PITX1 | c.*237G>A (n.*237G>A)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028542_135028545delinsCTTT | CA1584336128 | PITX1 | c.*234_*237delinsAAAG (n.*234_*237delinsAAAG)
| |
| 5 | g.135028548_135028554del | CA1081831194 | PITX1 | c.*231_*237del (n.*231_*237del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028542_135028558delinsCTTTTTGCTTTTTTTTT | CA1584336129 | PITX1 | c.*221_*237delinsAAAAAAAAAGCAAAAAG (n.*221_*237delinsAAAAAAAAAGCAAAAAG)
| |
| 5 | g.135028543T>G | CA804232397 | PITX1 | c.*236A>C (n.*236A>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028543T= | CA1584336130 | PITX1 | c.*236A= (n.*236A=)
| |
| 5 | g.135028545_135028547del | CA1584336132 | PITX1 | c.*234_*236del (n.*234_*236del)
| dbSNP |
| 5 | g.135028548_135028563del | CA1584336131 | PITX1 | c.*221_*236del (n.*221_*236del)
| dbSNP |
| 5 | g.135028544T>C | CA2675353405 | PITX1 | c.*235A>G (n.*235A>G)
| gnomAD v4 |
| 5 | g.135028544T>G | CA2675353406 | PITX1 | c.*235A>C (n.*235A>C)
| gnomAD v4 |
| 5 | g.135028545T>C | CA2675353407 | PITX1 | c.*234A>G (n.*234A>G)
| gnomAD v4 |
| 5 | g.135028545T>G | CA2675353408 | PITX1 | c.*234A>C (n.*234A>C)
| gnomAD v4 |
| 5 | g.135028546T>C | CA1081831197 | PITX1 | c.*233A>G (n.*233A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028546T>G | CA2675353409 | PITX1 | c.*233A>C (n.*233A>C)
| gnomAD v4 |
| 5 | g.135028546T= | CA1584336133 | PITX1 | c.*233A= (n.*233A=)
| |
| 5 | g.135028546_135028549delinsTTGC | CA1584336134 | PITX1 | c.*230_*233delinsGCAA (n.*230_*233delinsGCAA)
| |
| 5 | g.135028547T>A | CA2675353410 | PITX1 | c.*232A>T (n.*232A>T)
| gnomAD v4 |
| 5 | g.135028547T>C | CA562836057 | PITX1 | c.*232A>G (n.*232A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028547T>G | CA1081831200 | PITX1 | c.*232A>C (n.*232A>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028547T= | CA1584336136 | PITX1 | c.*232A= (n.*232A=)
| |
| 5 | g.135028547_135028549delinsTGC | CA1584336135 | PITX1 | c.*230_*232delinsGCA (n.*230_*232delinsGCA)
| |
| 5 | g.135028548_135028550del | CA1081831199 | PITX1 | c.*230_*232del (n.*230_*232del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028548del | CA2548062653 | PITX1 | c.*231del (n.*231del)
| |
| 5 | g.135028548G>C | CA2604555973 | PITX1 | c.*231C>G (n.*231C>G)
| gnomAD v3 |
| 5 | g.135028548G= | CA1584336138 | PITX1 | c.*231C= (n.*231C=)
| |
| 5 | g.135028548G>T | CA128008953 | PITX1 | c.*231C>A (n.*231C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028548_135028549del | CA128008952 | PITX1 | c.*230_*231del (n.*230_*231del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028548_135028549delinsGC | CA1584336139 | PITX1 | c.*230_*231delinsGC (n.*230_*231delinsGC)
| |
| 5 | g.135028548_135028550delinsGCT | CA1584336137 | PITX1 | c.*229_*231delinsAGC (n.*229_*231delinsAGC)
| |
| 5 | g.135028548_135028551delinsGCTT | CA1584336141 | PITX1 | c.*228_*231delinsAAGC (n.*228_*231delinsAAGC)
| |
| 5 | g.135028548_135028552delinsGCTTT | CA1584336142 | PITX1 | c.*227_*231delinsAAAGC (n.*227_*231delinsAAAGC)
| |
| 5 | g.135028548_135028553delinsGCTTTT | CA1584336140 | PITX1 | c.*226_*231delinsAAAAGC (n.*226_*231delinsAAAAGC)
| |
| 5 | g.135028548_135028554delinsGCTTTTT | CA1584336143 | PITX1 | c.*225_*231delinsAAAAAGC (n.*225_*231delinsAAAAAGC)
| |
| 5 | g.135028548_135028549insT | CA1081831227 | PITX1 | c.*230_*231insA (n.*230_*231insA)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028548_135028549insGT | CA2675353416 | PITX1 | c.*230_*231insAC (n.*230_*231insAC)
| gnomAD v4 |
| 5 | g.135028548_135028549insTT | CA2675353418 | PITX1 | c.*230_*231insAA (n.*230_*231insAA)
| gnomAD v4 |
| 5 | g.135028548_135028549insTTT | CA2675353419 | PITX1 | c.*230_*231insAAA (n.*230_*231insAAA)
| gnomAD v4 |
| 5 | g.135028548_135028549insTTTT | CA1081831226 | PITX1 | c.*230_*231insAAAA (n.*230_*231insAAAA)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028548_135028549insTTTTT | CA562836066 | PITX1 | c.*230_*231insAAAAA (n.*230_*231insAAAAA)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028548_135028549insTTTTTT | CA562836067 | PITX1 | c.*230_*231insAAAAAA (n.*230_*231insAAAAAA)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028548_135028549insTTTTTTT | CA1081831224 | PITX1 | c.*230_*231insAAAAAAA (n.*230_*231insAAAAAAA)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028548_135028549insTTTTTTTT | CA562836068 | PITX1 | c.*230_*231insAAAAAAAA (n.*230_*231insAAAAAAAA)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028548_135028549insTTTTTTTTT | CA1081831223 | PITX1 | c.*230_*231insAAAAAAAAA (n.*230_*231insAAAAAAAAA)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028548_135028549insTTTTTTTTTT | CA1081831221 | PITX1 | c.*230_*231insAAAAAAAAAA (n.*230_*231insAAAAAAAAAA)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028548_135028549insTTTTTTTTTTT | CA917587375 | PITX1 | c.*230_*231insAAAAAAAAAAA (n.*230_*231insAAAAAAAAAAA)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028548_135028549insTTTTTTTTTTTT | CA1081831232 | PITX1 | c.*230_*231insAAAAAAAAAAAA (n.*230_*231insAAAAAAAAAAAA)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028548_135028549insTTTTTTTTTTTTT | CA1081831219 | PITX1 | c.*230_*231insAAAAAAAAAAAAA (n.*230_*231insAAAAAAAAAAAAA)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028549del | CA562836065 | PITX1 | c.*230del (n.*230del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028549C>A | CA1081831214 | PITX1 | c.*230G>T (n.*230G>T)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028549C= | CA1584336144 | PITX1 | c.*230G= (n.*230G=)
| |
| 5 | g.135028549C>G | CA2675353411 | PITX1 | c.*230G>C (n.*230G>C)
| gnomAD v4 |
| 5 | g.135028549C>T | CA128008959 | PITX1 | c.*230G>A (n.*230G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028549dup | CA1584336146 | PITX1 | c.*230dup (n.*230dup)
| dbSNP |
| 5 | g.135028549_135028550del | CA562836063 | PITX1 | c.*229_*230del (n.*229_*230del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028549_135028550dup | CA2675353417 | PITX1 | c.*229_*230dup (n.*229_*230dup)
| gnomAD v4 |
| 5 | g.135028549_135028551del | CA562836062 | PITX1 | c.*228_*230del (n.*228_*230del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028549_135028552del | CA804232410 | PITX1 | c.*227_*230del (n.*227_*230del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028549_135028553del | CA1081831216 | PITX1 | c.*226_*230del (n.*226_*230del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028549_135028554del | CA804232409 | PITX1 | c.*225_*230del (n.*225_*230del)
| dbSNP gnomAD v4 |
| 5 | g.135028549_135028555del | CA2675353415 | PITX1 | c.*224_*230del (n.*224_*230del)
| gnomAD v4 |
| 5 | g.135028549_135028556del | CA2675353414 | PITX1 | c.*223_*230del (n.*223_*230del)
| gnomAD v4 |
| 5 | g.135028549_135028559del | CA2675353413 | PITX1 | c.*220_*230del (n.*220_*230del)
| gnomAD v4 |
| 5 | g.135028549_135028560dup | CA1081831229 | PITX1 | c.*219_*230dup (n.*219_*230dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028549_135028561del | CA2675353412 | PITX1 | c.*218_*230del (n.*218_*230del)
| gnomAD v4 |
| 5 | g.135028549_135028565delinsCTTTTTTTTTTTTTTTT | CA1584336145 | PITX1 | c.*214_*230delinsAAAAAAAAAAAAAAAAG (n.*214_*230delinsAAAAAAAAAAAAAAAAG)
| |
| 5 | g.135028550T>A | CA2675353421 | PITX1 | c.*229A>T (n.*229A>T)
| gnomAD v4 |
| 5 | g.135028550T>C | CA804232436 | PITX1 | c.*229A>G (n.*229A>G)
| dbSNP gnomAD v4 |
| 5 | g.135028550T>G | CA2675353422 | PITX1 | c.*229A>C (n.*229A>C)
| gnomAD v4 |
| 5 | g.135028550T= | CA1584336147 | PITX1 | c.*229A= (n.*229A=)
| |
| 5 | g.135028550_135028551insGTTTT | CA2768505060 | PITX1 | c.*229_*230insAAACA (n.*229_*230insAAACA)
| |
| 5 | g.135028554_135028555insGTTTTTT | CA1081831308 | PITX1 | c.*229_*230insACAAAAA (n.*229_*230insACAAAAA)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028554_135028555insGTTTTTTT | CA2604555979 | PITX1 | c.*229_*230insAACAAAAA (n.*229_*230insAACAAAAA)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028558_135028559insGTTTTTTTTTT | CA1081831324 | PITX1 | c.*229_*230insACAAAAAAAAA (n.*229_*230insACAAAAAAAAA)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028562_135028563insGTTTTTTTTTTTTTTT | CA2556553018 | PITX1 | c.*229_*230insAACAAAAAAAAAAAAA (n.*229_*230insAACAAAAAAAAAAAAA)
| |
| 5 | g.135028573_135028574insTTTTTTTTTTTTTTTTTTTTTTTTT | CA1081831286 | PITX1 | c.*229_*230insAAAAAAAAAAAAAAAAAAAAAAAAA (n.*229_*230insAAAAAAAAAAAAAAAAAAAAAAAAA)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028573_135028574insTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1081831285 | PITX1 | c.*229_*230insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*229_*230insAAAAAAAAAAAAAAAAAAAAAAAAAAA)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028573_135028574insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1081831282 | PITX1 | c.*229_*230insAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*229_*230insAAAAAAAAAAAAAAAAAAAAAAAAAAAA)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028573_135028574insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1081831280 | PITX1 | c.*229_*230insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*229_*230insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028573_135028574insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1081831279 | PITX1 | c.*229_*230insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*229_*230insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028573dup | CA128008964 | PITX1 | c.*229dup (n.*229dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028572_135028573dup | CA804232477 | PITX1 | c.*228_*229dup (n.*228_*229dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028571_135028573dup | CA804232483 | PITX1 | c.*227_*229dup (n.*227_*229dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028570_135028573dup | CA1081831305 | PITX1 | c.*226_*229dup (n.*226_*229dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028569_135028573dup | CA1081831306 | PITX1 | c.*225_*229dup (n.*225_*229dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028568_135028573dup | CA1081831312 | PITX1 | c.*224_*229dup (n.*224_*229dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028567_135028573dup | CA804232485 | PITX1 | c.*223_*229dup (n.*223_*229dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028566_135028573dup | CA1081831322 | PITX1 | c.*222_*229dup (n.*222_*229dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028565_135028573dup | CA1081831299 | PITX1 | c.*221_*229dup (n.*221_*229dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028564_135028573dup | CA1081831326 | PITX1 | c.*220_*229dup (n.*220_*229dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028563_135028573dup | CA1081831366 | PITX1 | c.*219_*229dup (n.*219_*229dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028562_135028573dup | CA1081831330 | PITX1 | c.*218_*229dup (n.*218_*229dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028561_135028573dup | CA1081831337 | PITX1 | c.*217_*229dup (n.*217_*229dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028560_135028573dup | CA1081831339 | PITX1 | c.*216_*229dup (n.*216_*229dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028559_135028573dup | CA1081831342 | PITX1 | c.*215_*229dup (n.*215_*229dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028558_135028573dup | CA1081831348 | PITX1 | c.*214_*229dup (n.*214_*229dup)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028557_135028573dup | CA1081831351 | PITX1 | c.*213_*229dup (n.*213_*229dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028556_135028573dup | CA1081831356 | PITX1 | c.*212_*229dup (n.*212_*229dup)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028555_135028573dup | CA1081831359 | PITX1 | c.*211_*229dup (n.*211_*229dup)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028554_135028573dup | CA1081831362 | PITX1 | c.*210_*229dup (n.*210_*229dup)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028553_135028573dup | CA1081831301 | PITX1 | c.*209_*229dup (n.*209_*229dup)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028552_135028573dup | CA1081831334 | PITX1 | c.*208_*229dup (n.*208_*229dup)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028551_135028573dup | CA1081831289 | PITX1 | c.*207_*229dup (n.*207_*229dup)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028550_135028573dup | CA1081831276 | PITX1 | c.*206_*229dup (n.*206_*229dup)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028573del | CA804232440 | PITX1 | c.*229del (n.*229del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028572_135028573del | CA804232470 | PITX1 | c.*228_*229del (n.*228_*229del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028571_135028573del | CA804232468 | PITX1 | c.*227_*229del (n.*227_*229del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028570_135028573del | CA804232465 | PITX1 | c.*226_*229del (n.*226_*229del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028569_135028573del | CA804232460 | PITX1 | c.*225_*229del (n.*225_*229del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028568_135028573del | CA804232457 | PITX1 | c.*224_*229del (n.*224_*229del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028567_135028573del | CA804232434 | PITX1 | c.*223_*229del (n.*223_*229del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028566_135028573del | CA804232454 | PITX1 | c.*222_*229del (n.*222_*229del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028565_135028573del | CA804232450 | PITX1 | c.*221_*229del (n.*221_*229del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028564_135028573del | CA804232448 | PITX1 | c.*220_*229del (n.*220_*229del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028563_135028573del | CA804232447 | PITX1 | c.*219_*229del (n.*219_*229del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028562_135028573del | CA1081831295 | PITX1 | c.*218_*229del (n.*218_*229del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028561_135028573del | CA804232444 | PITX1 | c.*217_*229del (n.*217_*229del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028560_135028573del | CA804232443 | PITX1 | c.*216_*229del (n.*216_*229del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028559_135028573del | CA2675353420 | PITX1 | c.*215_*229del (n.*215_*229del)
| gnomAD v4 |
| 5 | g.135028558_135028573del | CA804232442 | PITX1 | c.*214_*229del (n.*214_*229del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028550_135028551insG | CA2675353423 | PITX1 | c.*228_*229insC (n.*228_*229insC)
| gnomAD v4 |
| 5 | g.135028551T>A | CA2768505061 | PITX1 | c.*228A>T (n.*228A>T)
| |
| 5 | g.135028551T>C | CA804232493 | PITX1 | c.*228A>G (n.*228A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028551T>G | CA2501093209 | PITX1 | c.*228A>C (n.*228A>C)
| gnomAD v4 |
| 5 | g.135028551T= | CA1584336148 | PITX1 | c.*228A= (n.*228A=)
| |
| 5 | g.135028557_135028558insGTTTTTTT | CA2768505063 | PITX1 | c.*228_*229insCAAAAAAA (n.*228_*229insCAAAAAAA)
| |
| 5 | g.135028558_135028559insCTTTTTTTT | CA2768505062 | PITX1 | c.*228_*229insGAAAAAAAA (n.*228_*229insGAAAAAAAA)
| |
| 5 | g.135028552T>C | CA1081831381 | PITX1 | c.*227A>G (n.*227A>G)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028552T>G | CA2675353424 | PITX1 | c.*227A>C (n.*227A>C)
| gnomAD v4 |
| 5 | g.135028552_135028553insGT | CA2768505064 | PITX1 | c.*227_*228insCA (n.*227_*228insCA)
| |
| 5 | g.135028553T>C | CA1081831383 | PITX1 | c.*226A>G (n.*226A>G)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028553T>G | CA2675353425 | PITX1 | c.*226A>C (n.*226A>C)
| gnomAD v4 |
| 5 | g.135028554T>G | CA562836069 | PITX1 | c.*225A>C (n.*225A>C)
| dbSNP gnomAD v2 |
| 5 | g.135028554T= | CA1584336149 | PITX1 | c.*225A= (n.*225A=)
| |
| 5 | g.135028561_135028562insGTTTTTTTT | CA2768505065 | PITX1 | c.*225_*226insCAAAAAAAA (n.*225_*226insCAAAAAAAA)
| |
| 5 | g.135028554_135028555insC | CA2768505066 | PITX1 | c.*224_*225insG (n.*224_*225insG)
| |
| 5 | g.135028555T>A | CA2675353428 | PITX1 | c.*224A>T (n.*224A>T)
| gnomAD v4 |
| 5 | g.135028555T>C | CA2675353426 | PITX1 | c.*224A>G (n.*224A>G)
| gnomAD v4 |
| 5 | g.135028555T>G | CA2675353427 | PITX1 | c.*224A>C (n.*224A>C)
| gnomAD v4 |
| 5 | g.135028556T>C | CA1081831385 | PITX1 | c.*223A>G (n.*223A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028556T>G | CA1584336151 | PITX1 | c.*223A>C (n.*223A>C)
| dbSNP gnomAD v4 |
| 5 | g.135028556T= | CA1584336150 | PITX1 | c.*223A= (n.*223A=)
| |
| 5 | g.135028561_135028562insGTTTTTT | CA2768505067 | PITX1 | c.*223_*224insCAAAAAA (n.*223_*224insCAAAAAA)
| |
| 5 | g.135028557T>A | CA2675353429 | PITX1 | c.*222A>T (n.*222A>T)
| gnomAD v4 |
| 5 | g.135028557T>C | CA1584336153 | PITX1 | c.*222A>G (n.*222A>G)
| dbSNP |
| 5 | g.135028557T>G | CA804232525 | PITX1 | c.*222A>C (n.*222A>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028557T= | CA1584336152 | PITX1 | c.*222A= (n.*222A=)
| |
| 5 | g.135028558T>G | CA562836070 | PITX1 | c.*221A>C (n.*221A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028558T= | CA1584336154 | PITX1 | c.*221A= (n.*221A=)
| |
| 5 | g.135028558_135028559insC | CA2768505068 | PITX1 | c.*220_*221insG (n.*220_*221insG)
| |
