5 | g.135028511_135028523delinsTCCATTTTTTCGC | CA1584336096 | PITX1 | c.*256_*268delinsGCGAAAAAATGGA (n.*256_*268delinsGCGAAAAAATGGA)
| |
5 | g.135028512_135028523del | CA804232365 | PITX1 | c.*256_*267del (n.*256_*267del)
| dbSNP |
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)
| |
5 | g.135028563T>C | CA2675353430 | PITX1 | c.*216A>G (n.*216A>G)
| gnomAD v4 |
5 | g.135028565T>A | CA2768505069 | PITX1 | c.*214A>T (n.*214A>T)
| |
5 | g.135028565T>G | CA1584336156 | PITX1 | c.*214A>C (n.*214A>C)
| dbSNP gnomAD v4 |
5 | g.135028565T= | CA1584336155 | PITX1 | c.*214A= (n.*214A=)
| |
5 | g.135028565_135028574delinsTTTTTTTTTG | CA1584336157 | PITX1 | c.*205_*214delinsCAAAAAAAAA (n.*205_*214delinsCAAAAAAAAA)
| |
5 | g.135028566T>G | CA1584336160 | PITX1 | c.*213A>C (n.*213A>C)
| dbSNP gnomAD v4 |
5 | g.135028566T= | CA1584336159 | PITX1 | c.*213A= (n.*213A=)
| |
5 | g.135028566_135028574delinsTTTTTTTTG | CA1584336158 | PITX1 | c.*205_*213delinsCAAAAAAAA (n.*205_*213delinsCAAAAAAAA)
| |
5 | g.135028567_135028575del | CA1081831390 | PITX1 | c.*205_*213del (n.*205_*213del)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028567T>C | CA2675353431 | PITX1 | c.*212A>G (n.*212A>G)
| gnomAD v4 |
5 | g.135028567T>G | CA2604555981 | PITX1 | c.*212A>C (n.*212A>C)
| gnomAD v3 gnomAD v4 |
5 | g.135028567_135028574delinsTTTTTTTG | CA1584336162 | PITX1 | c.*205_*212delinsCAAAAAAA (n.*205_*212delinsCAAAAAAA)
| |
5 | g.135028568_135028575del | CA1584336161 | PITX1 | c.*205_*212del (n.*205_*212del)
| dbSNP gnomAD v4 |
5 | g.135028567_135028568insGTG | CA2675353432 | PITX1 | c.*211_*212insCAC (n.*211_*212insCAC)
| gnomAD v4 |
5 | g.135028568T>C | CA1584336166 | PITX1 | c.*211A>G (n.*211A>G)
| dbSNP gnomAD v4 |
5 | g.135028568T>G | CA2675353433 | PITX1 | c.*211A>C (n.*211A>C)
| gnomAD v4 |
5 | g.135028568T= | CA1584336164 | PITX1 | c.*211A= (n.*211A=)
| |
5 | g.135028573_135028574insTTCTTTTTT | CA1081831391 | PITX1 | c.*211_*212insGAAAAAAAA (n.*211_*212insGAAAAAAAA)
| gnomAD v3 gnomAD v4 |
5 | g.135028573_135028574insTTTCTTTTTT | CA2504573512 | PITX1 | c.*211_*212insGAAAAAAAAA (n.*211_*212insGAAAAAAAAA)
| |
5 | g.135028568_135028574delinsTTTTTTG | CA1584336163 | PITX1 | c.*205_*211delinsCAAAAAA (n.*205_*211delinsCAAAAAA)
| |
5 | g.135028569_135028575del | CA1584336165 | PITX1 | c.*205_*211del (n.*205_*211del)
| dbSNP gnomAD v4 |
5 | g.135028569T>G | CA2675353435 | PITX1 | c.*210A>C (n.*210A>C)
| gnomAD v4 |
5 | g.135028573_135028574insTCTTTTT | CA2768505070 | PITX1 | c.*210_*211insGAAAAAA (n.*210_*211insGAAAAAA)
| |
5 | g.135028573_135028574insTTCTTTTT | CA1081831393 | PITX1 | c.*210_*211insGAAAAAAA (n.*210_*211insGAAAAAAA)
| gnomAD v3 gnomAD v4 |
5 | g.135028570_135028575del | CA1081831398 | PITX1 | c.*205_*210del (n.*205_*210del)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028575_135028582del | CA2675353434 | PITX1 | c.*203_*210del (n.*203_*210del)
| gnomAD v4 |
5 | g.135028569_135028570insGTG | CA2675353436 | PITX1 | c.*209_*210insCAC (n.*209_*210insCAC)
| gnomAD v4 |
5 | g.135028570T>C | CA2675353438 | PITX1 | c.*209A>G (n.*209A>G)
| gnomAD v4 |
5 | g.135028570T>G | CA2675353437 | PITX1 | c.*209A>C (n.*209A>C)
| gnomAD v4 |
5 | g.135028571_135028575del | CA2675353440 | PITX1 | c.*205_*209del (n.*205_*209del)
| gnomAD v4 |
5 | g.135028574_135028580del | CA2675353439 | PITX1 | c.*203_*209del (n.*203_*209del)
| gnomAD v4 |
5 | g.135028570_135028571insG | CA1081831399 | PITX1 | c.*208_*209insC (n.*208_*209insC)
| gnomAD v3 gnomAD v4 |
5 | g.135028571T>G | CA1584336170 | PITX1 | c.*208A>C (n.*208A>C)
| dbSNP gnomAD v4 |
5 | g.135028571T= | CA1584336169 | PITX1 | c.*208A= (n.*208A=)
| |
5 | g.135028571_135028572insGT | CA1081831400 | PITX1 | c.*208_*209insCA (n.*208_*209insCA)
| gnomAD v3 gnomAD v4 |
5 | g.135028571_135028574delinsTTTG | CA1584336168 | PITX1 | c.*205_*208delinsCAAA (n.*205_*208delinsCAAA)
| |
5 | g.135028572_135028575del | CA1081831401 | PITX1 | c.*205_*208del (n.*205_*208del)
| gnomAD v3 gnomAD v4 |
5 | g.135028571_135028576delinsTTTGTC | CA1584336167 | PITX1 | c.*203_*208delinsGACAAA (n.*203_*208delinsGACAAA)
| |
5 | g.135028571_135028572insG | CA1081831405 | PITX1 | c.*207_*208insC (n.*207_*208insC)
| gnomAD v3 gnomAD v4 |
5 | g.135028572T>A | CA2675353441 | PITX1 | c.*207A>T (n.*207A>T)
| gnomAD v4 |
5 | g.135028572T>C | CA1081831410 | PITX1 | c.*207A>G (n.*207A>G)
| gnomAD v3 gnomAD v4 |
5 | g.135028572T>G | CA1081831407 | PITX1 | c.*207A>C (n.*207A>C)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028572T= | CA1584336172 | PITX1 | c.*207A= (n.*207A=)
| |
5 | g.135028572_135028574delinsTTG | CA1584336171 | PITX1 | c.*205_*207delinsCAA (n.*205_*207delinsCAA)
| |
5 | g.135028573_135028575del | CA562836071 | PITX1 | c.*205_*207del (n.*205_*207del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028574_135028578del | CA804232529 | PITX1 | c.*203_*207del (n.*203_*207del)
| dbSNP gnomAD v4 |
5 | g.135028573T>C | CA1584336174 | PITX1 | c.*206A>G (n.*206A>G)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028573T>G | CA804232531 | PITX1 | c.*206A>C (n.*206A>C)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028573T= | CA1584336175 | PITX1 | c.*206A= (n.*206A=)
| |
5 | g.135028573_135028574delinsTG | CA1584336176 | PITX1 | c.*205_*206delinsCA (n.*205_*206delinsCA)
| |
5 | g.135028574_135028575del | CA562836072 | PITX1 | c.*205_*206del (n.*205_*206del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028573_135028576delinsTGTC | CA1584336173 | PITX1 | c.*203_*206delinsGACA (n.*203_*206delinsGACA)
| |
5 | g.135028574_135028577del | CA2675353442 | PITX1 | c.*203_*206del (n.*203_*206del)
| gnomAD v4 |
5 | g.135028574del | CA562836074 | PITX1 | c.*205del (n.*205del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028574G>A | CA1081831418 | PITX1 | c.*205C>T (n.*205C>T)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028574G>C | CA1081831420 | PITX1 | c.*205C>G (n.*205C>G)
| gnomAD v3 gnomAD v4 |
5 | g.135028574G= | CA1584336178 | PITX1 | c.*205C= (n.*205C=)
| |
5 | g.135028574G>T | CA128008969 | PITX1 | c.*205C>A (n.*205C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028574dup | CA1081831416 | PITX1 | c.*205dup (n.*205dup)
| gnomAD v3 gnomAD v4 |
5 | g.135028574_135028576del | CA446525437 | PITX1 | c.*203_*205del (n.*203_*205del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028574_135028576delinsGTC | CA1584336177 | PITX1 | c.*203_*205delinsGAC (n.*203_*205delinsGAC)
| |
5 | g.135028575del | CA2675353443 | PITX1 | c.*204del (n.*204del)
| gnomAD v4 |
5 | g.135028575T>A | CA2675353444 | PITX1 | c.*204A>T (n.*204A>T)
| gnomAD v4 |
5 | g.135028575T>G | CA1584336181 | PITX1 | c.*204A>C (n.*204A>C)
| dbSNP gnomAD v4 |
5 | g.135028575T= | CA1584336180 | PITX1 | c.*204A= (n.*204A=)
| |
5 | g.135028575_135028576insTTT | CA1081831431 | PITX1 | c.*204_*205insAAA (n.*204_*205insAAA)
| gnomAD v3 gnomAD v4 |
5 | g.135028575_135028576insTTTTTTTTTTTTTTTTT | CA1081831426 | PITX1 | c.*204_*205insAAAAAAAAAAAAAAAAA (n.*204_*205insAAAAAAAAAAAAAAAAA)
| gnomAD v3 gnomAD v4 |
5 | g.135028575dup | CA1081831432 | PITX1 | c.*204dup (n.*204dup)
| gnomAD v3 gnomAD v4 |
5 | g.135028575_135028576delinsTC | CA1584336179 | PITX1 | c.*203_*204delinsGA (n.*203_*204delinsGA)
| |
5 | g.135028576_135028577del | CA1081831423 | PITX1 | c.*203_*204del (n.*203_*204del)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028576_135028578del | CA2675353446 | PITX1 | c.*202_*204del (n.*202_*204del)
| gnomAD v4 |
5 | g.135028575_135028581del | CA2675353447 | PITX1 | c.*198_*204del (n.*198_*204del)
| gnomAD v4 |
5 | g.135028575_135028593del | CA2675353445 | PITX1 | c.*186_*204del (n.*186_*204del)
| gnomAD v4 |
5 | g.135028575_135028576insG | CA2675353448 | PITX1 | c.*203_*204insC (n.*203_*204insC)
| gnomAD v4 |
5 | g.135028575_135028576insTA | CA2675353449 | PITX1 | c.*203_*204insTA (n.*203_*204insTA)
| gnomAD v4 |
5 | g.135028575_135028576insTTA | CA2675353450 | PITX1 | c.*203_*204insTAA (n.*203_*204insTAA)
| gnomAD v4 |
5 | g.135028576del | CA562836075 | PITX1 | c.*203del (n.*203del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028576C>A | CA1081831434 | PITX1 | c.*203G>T (n.*203G>T)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028576C= | CA1584336182 | PITX1 | c.*203G= (n.*203G=)
| |
5 | g.135028576C>G | CA1081831435 | PITX1 | c.*203G>C (n.*203G>C)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028576C>T | CA128008979 | PITX1 | c.*203G>A (n.*203G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028576_135028584del | CA2768505071 | PITX1 | c.*195_*203del (n.*195_*203del)
| |
5 | g.135028577T>A | CA2675353452 | PITX1 | c.*202A>T (n.*202A>T)
| gnomAD v4 |
5 | g.135028577T>G | CA2675353453 | PITX1 | c.*202A>C (n.*202A>C)
| gnomAD v4 |
5 | g.135028581del | CA2675353451 | PITX1 | c.*202del (n.*202del)
| gnomAD v4 |
5 | g.135028578T>C | CA2675353454 | PITX1 | c.*201A>G (n.*201A>G)
| gnomAD v4 |
5 | g.135028578T>G | CA2675353455 | PITX1 | c.*201A>C (n.*201A>C)
| gnomAD v4 |
5 | g.135028579T>G | CA2675353456 | PITX1 | c.*200A>C (n.*200A>C)
| gnomAD v4 |
5 | g.135028580T>A | CA2675353457 | PITX1 | c.*199A>T (n.*199A>T)
| gnomAD v4 |
5 | g.135028580T>G | CA2604555983 | PITX1 | c.*199A>C (n.*199A>C)
| gnomAD v3 gnomAD v4 |
5 | g.135028580_135028581insG | CA2675353458 | PITX1 | c.*198_*199insC (n.*198_*199insC)
| gnomAD v4 |
5 | g.135028581T>G | CA1081831437 | PITX1 | c.*198A>C (n.*198A>C)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028581T= | CA1584336183 | PITX1 | c.*198A= (n.*198A=)
| |
5 | g.135028581_135028582insTGT | CA2675353459 | PITX1 | c.*198_*199insCAA (n.*198_*199insCAA)
| gnomAD v4 |
5 | g.135028581_135028582insTG | CA1081831457 | PITX1 | c.*197_*198insCA (n.*197_*198insCA)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028581_135028582insTGG | CA1081831454 | PITX1 | c.*197_*198insCCA (n.*197_*198insCCA)
| gnomAD v3 gnomAD v4 |
5 | g.135028581_135028582insTTG | CA1081831470 | PITX1 | c.*197_*198insCAA (n.*197_*198insCAA)
| gnomAD v3 gnomAD v4 |
5 | g.135028581_135028582insTTTG | CA1081831452 | PITX1 | c.*197_*198insCAAA (n.*197_*198insCAAA)
| gnomAD v3 gnomAD v4 |
5 | g.135028582G= | CA1584336185 | PITX1 | c.*197C= (n.*197C=)
| |
5 | g.135028582G>T | CA562836078 | PITX1 | c.*197C>A (n.*197C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028582_135028583insTGG | CA2675353460 | PITX1 | c.*197_*198insCAC (n.*197_*198insCAC)
| gnomAD v4 |
5 | g.135028582_135028583insTTGG | CA2568863715 | PITX1 | c.*197_*198insCAAC (n.*197_*198insCAAC)
| gnomAD v4 |
5 | g.135028583dup | CA562836076 | PITX1 | c.*197dup (n.*197dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028582_135028583dup | CA1081831465 | PITX1 | c.*196_*197dup (n.*196_*197dup)
| gnomAD v3 gnomAD v4 |
5 | g.135028583del | CA2604555984 | PITX1 | c.*197del (n.*197del)
| gnomAD v3 gnomAD v4 |
5 | g.135028582_135028590del | CA1081831451 | PITX1 | c.*189_*197del (n.*189_*197del)
| gnomAD v3 gnomAD v4 |
5 | g.135028582_135028592del | CA1081831446 | PITX1 | c.*187_*197del (n.*187_*197del)
| gnomAD v3 gnomAD v4 |
5 | g.135028583_135028592del | CA1081831449 | PITX1 | c.*188_*197del (n.*188_*197del)
| gnomAD v3 gnomAD v4 |
5 | g.135028582_135028593delinsGGAGGGCAGAGT | CA1584336184 | PITX1 | c.*186_*197delinsACTCTGCCCTCC (n.*186_*197delinsACTCTGCCCTCC)
| |
5 | g.135028583G>A | CA1584336188 | PITX1 | c.*196C>T (n.*196C>T)
| dbSNP |
5 | g.135028583G= | CA1584336186 | PITX1 | c.*196C= (n.*196C=)
| |
5 | g.135028583G>T | CA1081831477 | PITX1 | c.*196C>A (n.*196C>A)
| gnomAD v3 gnomAD v4 |
5 | g.135028583_135028584delinsGA | CA1584336187 | PITX1 | c.*195_*196delinsTC (n.*195_*196delinsTC)
| |
5 | g.135028584_135028585del | CA2675353461 | PITX1 | c.*195_*196del (n.*195_*196del)
| gnomAD v4 |
5 | g.135028584_135028592del | CA1081831473 | PITX1 | c.*188_*196del (n.*188_*196del)
| gnomAD v3 gnomAD v4 |
5 | g.135028584_135028594del | CA562836080 | PITX1 | c.*186_*196del (n.*186_*196del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028584del | CA1081831479 | PITX1 | c.*195del (n.*195del)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028584A= | CA1584336189 | PITX1 | c.*195T= (n.*195T=)
| |
5 | g.135028584A>C | CA2675353462 | PITX1 | c.*195T>G (n.*195T>G)
| gnomAD v4 |
5 | g.135028584A>G | CA562836082 | PITX1 | c.*195T>C (n.*195T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028584A>T | CA1081831482 | PITX1 | c.*195T>A (n.*195T>A)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028584_135028591del | CA1081831480 | PITX1 | c.*188_*195del (n.*188_*195del)
| gnomAD v3 gnomAD v4 |
5 | g.135028584_135028593del | CA562836081 | PITX1 | c.*186_*195del (n.*186_*195del)
| gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028585G>T | CA2675353463 | PITX1 | c.*194C>A (n.*194C>A)
| gnomAD v4 |
5 | g.135028587G>T | CA2675353464 | PITX1 | c.*192C>A (n.*192C>A)
| gnomAD v4 |
5 | g.135028588C>A | CA2675353465 | PITX1 | c.*191G>T (n.*191G>T)
| dbSNP gnomAD v4 |
5 | g.135028588C= | CA1584336190 | PITX1 | c.*191G= (n.*191G=)
| |
5 | g.135028588C>G | CA1081831488 | PITX1 | c.*191G>C (n.*191G>C)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028588C>T | CA1081831486 | PITX1 | c.*191G>A (n.*191G>A)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028588_135028589del | CA1081831489 | PITX1 | c.*190_*191del (n.*190_*191del)
| gnomAD v3 gnomAD v4 |
5 | g.135028588_135028593del | CA1081831485 | PITX1 | c.*186_*191del (n.*186_*191del)
| gnomAD v3 gnomAD v4 |
5 | g.135028589del | CA2675353466 | PITX1 | c.*190del (n.*190del)
| gnomAD v4 |
5 | g.135028589A>C | CA2604555985 | PITX1 | c.*190T>G (n.*190T>G)
| gnomAD v3 gnomAD v4 |
5 | g.135028589A>G | CA2604555986 | PITX1 | c.*190T>C (n.*190T>C)
| gnomAD v3 gnomAD v4 |
5 | g.135028589A>T | CA2675353467 | PITX1 | c.*190T>A (n.*190T>A)
| gnomAD v4 |
5 | g.135028590G>C | CA2675353468 | PITX1 | c.*189C>G (n.*189C>G)
| gnomAD v4 |
5 | g.135028590G>T | CA2675353469 | PITX1 | c.*189C>A (n.*189C>A)
| gnomAD v4 |
5 | g.135028591A= | CA1584336191 | PITX1 | c.*188T= (n.*188T=)
| |
5 | g.135028591A>C | CA2675353470 | PITX1 | c.*188T>G (n.*188T>G)
| gnomAD v4 |
5 | g.135028591A>G | CA1081831490 | PITX1 | c.*188T>C (n.*188T>C)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028591A>T | CA1081831492 | PITX1 | c.*188T>A (n.*188T>A)
| gnomAD v3 gnomAD v4 |
5 | g.135028592G>T | CA2675353471 | PITX1 | c.*187C>A (n.*187C>A)
| gnomAD v4 |
5 | g.135028593T>A | CA2768505072 | PITX1 | c.*186A>T (n.*186A>T)
| |
5 | g.135028593T>G | CA1081831493 | PITX1 | c.*186A>C (n.*186A>C)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028593T= | CA1584336192 | PITX1 | c.*186A= (n.*186A=)
| |
5 | g.135028593_135028594insTG | CA1081831495 | PITX1 | c.*185_*186insCA (n.*185_*186insCA)
| gnomAD v3 gnomAD v4 |
5 | g.135028593_135028594insTTG | CA2675353473 | PITX1 | c.*185_*186insCAA (n.*185_*186insCAA)
| gnomAD v4 |
5 | g.135028594G>T | CA2675353472 | PITX1 | c.*185C>A (n.*185C>A)
| gnomAD v4 |
5 | g.135028596_135028597dup | CA2675353474 | PITX1 | c.*184_*185dup (n.*184_*185dup)
| gnomAD v4 |
5 | g.135028595G>A | CA804232545 | PITX1 | c.*184C>T (n.*184C>T)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028595G= | CA1584336193 | PITX1 | c.*184C= (n.*184C=)
| |
5 | g.135028595G>T | CA2675353475 | PITX1 | c.*184C>A (n.*184C>A)
| gnomAD v4 |
5 | g.135028598_135028602dup | CA2675353476 | PITX1 | c.*179_*183dup (n.*179_*183dup)
| gnomAD v4 |
5 | g.135028597G>A | CA804232546 | PITX1 | c.*182C>T (n.*182C>T)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028597G= | CA1584336194 | PITX1 | c.*182C= (n.*182C=)
| |
5 | g.135028597G>T | CA2675353477 | PITX1 | c.*182C>A (n.*182C>A)
| gnomAD v4 |
5 | g.135028598T>C | CA804232553 | PITX1 | c.*181A>G (n.*181A>G)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028598T>G | CA1081831499 | PITX1 | c.*181A>C (n.*181A>C)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028598T= | CA1584336195 | PITX1 | c.*181A= (n.*181A=)
| |
5 | g.135028599C>A | CA2675353478 | PITX1 | c.*180G>T (n.*180G>T)
| gnomAD v4 |
5 | g.135028599C= | CA1584336196 | PITX1 | c.*180G= (n.*180G=)
| |
5 | g.135028599C>G | CA1584336197 | PITX1 | c.*180G>C (n.*180G>C)
| dbSNP gnomAD v4 |
5 | g.135028600C>A | CA2675353479 | PITX1 | c.*179G>T (n.*179G>T)
| gnomAD v4 |
5 | g.135028600C>G | CA2675353480 | PITX1 | c.*179G>C (n.*179G>C)
| gnomAD v4 |
5 | g.135028601G>A | CA1584336199 | PITX1 | c.*178C>T (n.*178C>T)
| dbSNP gnomAD v4 |
5 | g.135028601G= | CA1584336198 | PITX1 | c.*178C= (n.*178C=)
| |
5 | g.135028601G>T | CA2675353481 | PITX1 | c.*178C>A (n.*178C>A)
| gnomAD v4 |
5 | g.135028602G= | CA1584336200 | PITX1 | c.*177C= (n.*177C=)
| |
5 | g.135028602G>T | CA1584336201 | PITX1 | c.*177C>A (n.*177C>A)
| dbSNP gnomAD v4 |
5 | g.135028603A= | CA1584336202 | PITX1 | c.*176T= (n.*176T=)
| |
5 | g.135028603A>C | CA2675353482 | PITX1 | c.*176T>G (n.*176T>G)
| gnomAD v4 |
5 | g.135028603A>G | CA1584336203 | PITX1 | c.*176T>C (n.*176T>C)
| dbSNP gnomAD v4 |
5 | g.135028603A>T | CA2675353483 | PITX1 | c.*176T>A (n.*176T>A)
| gnomAD v4 |
5 | g.135028604A>C | CA2675353484 | PITX1 | c.*175T>G (n.*175T>G)
| gnomAD v4 |
5 | g.135028604A>G | CA2675353485 | PITX1 | c.*175T>C (n.*175T>C)
| gnomAD v4 |
5 | g.135028606A>C | CA2675353486 | PITX1 | c.*173T>G (n.*173T>G)
| gnomAD v4 |
5 | g.135028607G>A | CA2675353487 | PITX1 | c.*172C>T (n.*172C>T)
| gnomAD v4 |
5 | g.135028607G>C | CA1584336205 | PITX1 | c.*172C>G (n.*172C>G)
| dbSNP gnomAD v4 |
5 | g.135028607G= | CA1584336204 | PITX1 | c.*172C= (n.*172C=)
| |
5 | g.135028607G>T | CA2675353488 | PITX1 | c.*172C>A (n.*172C>A)
| gnomAD v4 |
5 | g.135028608C>A | CA2675353489 | PITX1 | c.*171G>T (n.*171G>T)
| gnomAD v4 |
5 | g.135028608C= | CA1584336206 | PITX1 | c.*171G= (n.*171G=)
| |
5 | g.135028608C>G | CA1081831502 | PITX1 | c.*171G>C (n.*171G>C)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028608C>T | CA2675353490 | PITX1 | c.*171G>A (n.*171G>A)
| gnomAD v4 |
5 | g.135028610A= | CA1584336207 | PITX1 | c.*169T= (n.*169T=)
| |
5 | g.135028610A>T | CA1584336208 | PITX1 | c.*169T>A (n.*169T>A)
| dbSNP gnomAD v4 |
5 | g.135028611A>C | CA2675353491 | PITX1 | c.*168T>G (n.*168T>G)
| gnomAD v4 |
5 | g.135028611A>G | CA2675353492 | PITX1 | c.*168T>C (n.*168T>C)
| gnomAD v4 |
5 | g.135028611A>T | CA2675353493 | PITX1 | c.*168T>A (n.*168T>A)
| gnomAD v4 |
5 | g.135028612C>A | CA2675353494 | PITX1 | c.*167G>T (n.*167G>T)
| gnomAD v4 |
5 | g.135028612C>T | CA2675353495 | PITX1 | c.*167G>A (n.*167G>A)
| gnomAD v4 |
5 | g.135028613A>C | CA2675353496 | PITX1 | c.*166T>G (n.*166T>G)
| gnomAD v4 |
5 | g.135028614C>A | CA2675353497 | PITX1 | c.*165G>T (n.*165G>T)
| dbSNP gnomAD v4 |
5 | g.135028615A>T | CA2675353498 | PITX1 | c.*164T>A (n.*164T>A)
| gnomAD v4 |
5 | g.135028615_135028620delinsAAAACC | CA1584336209 | PITX1 | c.*159_*164delinsGGTTTT (n.*159_*164delinsGGTTTT)
| |
5 | g.135028616A>G | CA2675353499 | PITX1 | c.*163T>C (n.*163T>C)
| gnomAD v4 |
5 | g.135028618_135028622del | CA1081831504 | PITX1 | c.*159_*163del (n.*159_*163del)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028617A>G | CA2675353500 | PITX1 | c.*162T>C (n.*162T>C)
| gnomAD v4 |
5 | g.135028617A>T | CA1081831506 | PITX1 | c.*162T>A (n.*162T>A)
| gnomAD v3 gnomAD v4 |