5 | g.135028709_135028733dup | CA2675353618 | PITX1 | c.*52_*76dup (n.*52_*76dup)
| gnomAD v4 |
5 | g.135028711_135028764del | CA2675353615 | PITX1 | c.*23_*76del (n.*23_*76del)
| gnomAD v4 |
5 | g.135028714_135028743delinsCCTCCGCGCCCGCGCCCGCGCCCTTCCCCG | CA1584336277 | PITX1 | c.*36_*65delinsCGGGGAAGGGCGCGGGCGCGGGCGCGGAGG (n.*36_*65delinsCGGGGAAGGGCGCGGGCGCGGGCGCGGAGG)
| |
5 | g.135028720_135028748del | CA563059414 | PITX1 | c.*36_*64del (n.*36_*64del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028731_135028736dup | CA563059415 | PITX1 | c.*57_*62dup (n.*57_*62dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028731_135028736del | CA128009064 | PITX1 | c.*57_*62del (n.*57_*62del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028721_135028728del | CA1081831571 | PITX1 | c.*54_*61del (n.*54_*61del)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028721_135028726delinsGCCCGC | CA1584336291 | PITX1 | c.*53_*58delinsGCGGGC (n.*53_*58delinsGCGGGC)
| |
5 | g.135028722_135028726del | CA563059417 | PITX1 | c.*53_*57del (n.*53_*57del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028730_135028731insTTCCCCGCTCCGGCCGCGCGCCC | CA2675353640 | PITX1 | c.*55_*56insCGGCCGGAGCGGGGAAGGGCGCG (n.*55_*56insCGGCCGGAGCGGGGAAGGGCGCG)
| gnomAD v4 |
5 | g.135028726C>A | CA1584336298 | PITX1 | c.*53G>T (n.*53G>T)
| dbSNP |
5 | g.135028726C= | CA1584336297 | PITX1 | c.*53G= (n.*53G=)
| |
5 | g.135028726C>G | CA128009095 | PITX1 | c.*53G>C (n.*53G>C)
| dbSNP |
5 | g.135028726C>T | CA2675353642 | PITX1 | c.*53G>A (n.*53G>A)
| gnomAD v4 |
5 | g.135028730_135028731insACGCCC | CA2675353641 | PITX1 | c.*53_*54insTGGGCG (n.*53_*54insTGGGCG)
| gnomAD v4 |
5 | g.135028729_135028732del | CA2842964909 | PITX1 | c.*50_*53del (n.*50_*53del)
| |
5 | g.135028726_135028727insAA | CA1081831580 | PITX1 | c.*52_*53insTT (n.*52_*53insTT)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028727G>A | CA804232708 | PITX1 | c.*52C>T (n.*52C>T)
| dbSNP gnomAD v4 |
5 | g.135028727G= | CA1584336299 | PITX1 | c.*52C= (n.*52C=)
| |
5 | g.135028727G>T | CA2578411527 | PITX1 | c.*52C>A (n.*52C>A)
| gnomAD v4 |
5 | g.135028728C>A | CA2768505077 | PITX1 | c.*51G>T (n.*51G>T)
| |
5 | g.135028728C>T | CA2675353643 | PITX1 | c.*51G>A (n.*51G>A)
| gnomAD v4 |
5 | g.135028729C>A | CA2675353645 | PITX1 | c.*50G>T (n.*50G>T)
| gnomAD v4 |
5 | g.135028729C>T | CA2675353644 | PITX1 | c.*50G>A (n.*50G>A)
| gnomAD v4 |
5 | g.135028731_135028735del | CA2710326781 | PITX1 | c.*46_*50del (n.*46_*50del)
| dbSNP |
5 | g.135028730C>A | CA2675353646 | PITX1 | c.*49G>T (n.*49G>T)
| gnomAD v4 |
5 | g.135028730C= | CA1584336300 | PITX1 | c.*49G= (n.*49G=)
| |
5 | g.135028730C>T | CA1584336301 | PITX1 | c.*49G>A (n.*49G>A)
| dbSNP gnomAD v4 |
5 | g.135028731del | CA2675353648 | PITX1 | c.*48del (n.*48del)
| gnomAD v4 |
5 | g.135028731G>A | CA563059418 | PITX1 | c.*48C>T (n.*48C>T)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.135028731G>C | CA128009108 | PITX1 | c.*48C>G (n.*48C>G)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028731G= | CA1584336303 | PITX1 | c.*48C= (n.*48C=)
| |
5 | g.135028731G>T | CA1584336302 | PITX1 | c.*48C>A (n.*48C>A)
| dbSNP gnomAD v4 |
5 | g.135028731_135028737del | CA2675353647 | PITX1 | c.*42_*48del (n.*42_*48del)
| gnomAD v4 |
5 | g.135028732C>A | CA2675353649 | PITX1 | c.*47G>T (n.*47G>T)
| gnomAD v4 |
5 | g.135028732C= | CA1584336304 | PITX1 | c.*47G= (n.*47G=)
| |
5 | g.135028732C>T | CA563059419 | PITX1 | c.*47G>A (n.*47G>A)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.135028733G>A | CA2675353652 | PITX1 | c.*46C>T (n.*46C>T)
| gnomAD v4 |
5 | g.135028733G>C | CA2675353653 | PITX1 | c.*46C>G (n.*46C>G)
| dbSNP gnomAD v4 |
5 | g.135028733G>T | CA2675353654 | PITX1 | c.*46C>A (n.*46C>A)
| gnomAD v4 |
5 | g.135028733_135028737del | CA2675353650 | PITX1 | c.*42_*46del (n.*42_*46del)
| gnomAD v4 |
5 | g.135028733_135028738del | CA2675353651 | PITX1 | c.*41_*46del (n.*41_*46del)
| gnomAD v4 |
5 | g.135028734C>A | CA2675353655 | PITX1 | c.*45G>T (n.*45G>T)
| gnomAD v4 |
5 | g.135028735C>A | CA563059420 | PITX1 | c.*44G>T (n.*44G>T)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.135028735C= | CA1584336305 | PITX1 | c.*44G= (n.*44G=)
| |
5 | g.135028735C>T | CA1584336306 | PITX1 | c.*44G>A (n.*44G>A)
| dbSNP gnomAD v4 |
5 | g.135028736C>A | CA2675353656 | PITX1 | c.*43G>T (n.*43G>T)
| gnomAD v4 |
5 | g.135028736C>T | CA2675353657 | PITX1 | c.*43G>A (n.*43G>A)
| gnomAD v4 |
5 | g.135028737T>C | CA1584336308 | PITX1 | c.*42A>G (n.*42A>G)
| dbSNP gnomAD v4 |
5 | g.135028737T>G | CA2710105112 | PITX1 | c.*42A>C (n.*42A>C)
| dbSNP |
5 | g.135028737T= | CA1584336307 | PITX1 | c.*42A= (n.*42A=)
| |
5 | g.135028738T>C | CA2578411528 | PITX1 | c.*41A>G (n.*41A>G)
| dbSNP gnomAD v4 |
5 | g.135028739C>A | CA2675353658 | PITX1 | c.*40G>T (n.*40G>T)
| gnomAD v4 |
5 | g.135028742del | CA2604555990 | PITX1 | c.*40del (n.*40del)
| gnomAD v3 gnomAD v4 |
5 | g.135028740C>A | CA2675353659 | PITX1 | c.*39G>T (n.*39G>T)
| gnomAD v4 |
5 | g.135028740C>T | CA2578411529 | PITX1 | c.*39G>A (n.*39G>A)
| |
5 | g.135028741C>A | CA2675353660 | PITX1 | c.*38G>T (n.*38G>T)
| gnomAD v4 |
5 | g.135028741C= | CA1584336309 | PITX1 | c.*38G= (n.*38G=)
| |
5 | g.135028741C>G | CA3417492 | PITX1 | c.*38G>C (n.*38G>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028741C>T | CA1081831594 | PITX1 | c.*38G>A (n.*38G>A)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028742C>A | CA2675353661 | PITX1 | c.*37G>T (n.*37G>T)
| gnomAD v4 |
5 | g.135028742C= | CA1584336310 | PITX1 | c.*37G= (n.*37G=)
| |
5 | g.135028742C>G | CA2604555991 | PITX1 | c.*37G>C (n.*37G>C)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028742C>T | CA3417493 | PITX1 | c.*37G>A (n.*37G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028743G>A | CA563059421 | PITX1 | c.*36C>T (n.*36C>T)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.135028743G= | CA1584336311 | PITX1 | c.*36C= (n.*36C=)
| |
5 | g.135028743G>T | CA2675353662 | PITX1 | c.*36C>A (n.*36C>A)
| gnomAD v4 |
5 | g.135028744C>A | CA2675353663 | PITX1 | c.*35G>T (n.*35G>T)
| gnomAD v4 |
5 | g.135028744C>G | CA2675353664 | PITX1 | c.*35G>C (n.*35G>C)
| gnomAD v4 |
5 | g.135028745T>A | CA804232719 | PITX1 | c.*34A>T (n.*34A>T)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028745T>C | CA563059422 | PITX1 | c.*34A>G (n.*34A>G)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.135028745T= | CA1584336312 | PITX1 | c.*34A= (n.*34A=)
| |
5 | g.135028745_135028752delinsTCCGGCCG | CA1584336313 | PITX1 | c.*27_*34delinsCGGCCGGA (n.*27_*34delinsCGGCCGGA)
| |
5 | g.135028746C>A | CA2675353665 | PITX1 | c.*33G>T (n.*33G>T)
| gnomAD v4 |
5 | g.135028746C= | CA1584336314 | PITX1 | c.*33G= (n.*33G=)
| |
5 | g.135028746C>T | CA804232722 | PITX1 | c.*33G>A (n.*33G>A)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028752_135028758del | CA563059423 | PITX1 | c.*27_*33del (n.*27_*33del)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.135028747C= | CA1584336315 | PITX1 | c.*32G= (n.*32G=)
| |
5 | g.135028747C>T | CA804232730 | PITX1 | c.*32G>A (n.*32G>A)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028747_135028748insT | CA650298465 | PITX1 | c.*31_*32insA (n.*31_*32insA)
| COSMIC |
5 | g.135028748G>A | CA563059424 | PITX1 | c.*31C>T (n.*31C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028748G>C | CA2578411530 | PITX1 | c.*31C>G (n.*31C>G)
| gnomAD v4 |
5 | g.135028748G= | CA1584336316 | PITX1 | c.*31C= (n.*31C=)
| |
5 | g.135028748G>T | CA2675353666 | PITX1 | c.*31C>A (n.*31C>A)
| gnomAD v4 |
5 | g.135028748_135028749insCGTGGT | CA3417494 | PITX1 | c.*30_*31insACCACG (n.*30_*31insACCACG)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.135028748_135028749insCGTGGTGC | CA1584336318 | PITX1 | c.*30_*31insGCACCACG (n.*30_*31insGCACCACG)
| dbSNP |
5 | g.135028749G>A | CA804232747 | PITX1 | c.*30C>T (n.*30C>T)
| dbSNP gnomAD v4 |
5 | g.135028749G>C | CA2710065659 | PITX1 | c.*30C>G (n.*30C>G)
| dbSNP |
5 | g.135028749G= | CA1584336317 | PITX1 | c.*30C= (n.*30C=)
| |
5 | g.135028749G>T | CA2842964910 | PITX1 | c.*30C>A (n.*30C>A)
| |
5 | g.135028750C>A | CA2842964911 | PITX1 | c.*29G>T (n.*29G>T)
| |
5 | g.135028750C= | CA1584336319 | PITX1 | c.*29G= (n.*29G=)
| |
5 | g.135028750C>T | CA2675353667 | PITX1 | c.*29G>A (n.*29G>A)
| gnomAD v4 |
5 | g.135028750_135028751insGGACCG | CA1584336320 | PITX1 | c.*28_*29insCGGTCC (n.*28_*29insCGGTCC)
| dbSNP |
5 | g.135028750_135028751insGCGGACCG | CA3417495 | PITX1 | c.*28_*29insCGGTCCGC (n.*28_*29insCGGTCCGC)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.135028751C>A | CA2710073605 | PITX1 | c.*28G>T (n.*28G>T)
| dbSNP |
5 | g.135028751C= | CA1584336321 | PITX1 | c.*28G= (n.*28G=)
| |
5 | g.135028751C>T | CA563059425 | PITX1 | c.*28G>A (n.*28G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028752G>A | CA3417496 | PITX1 | c.*27C>T (n.*27C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028752G= | CA1584336322 | PITX1 | c.*27C= (n.*27C=)
| |
5 | g.135028752G>T | CA1081831605 | PITX1 | c.*27C>A (n.*27C>A)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028753C= | CA1584336323 | PITX1 | c.*26G= (n.*26G=)
| |
5 | g.135028753C>G | CA2675353668 | PITX1 | c.*26G>C (n.*26G>C)
| gnomAD v4 |
5 | g.135028753C>T | CA128009121 | PITX1 | c.*26G>A (n.*26G>A)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028754C>A | CA1081831606 | PITX1 | c.*25G>T (n.*25G>T)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028754C= | CA1584336324 | PITX1 | c.*25G= (n.*25G=)
| |
5 | g.135028754C>T | CA3417497 | PITX1 | c.*25G>A (n.*25G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.135028756_135028762dup | CA2675353669 | PITX1 | c.*19_*25dup (n.*19_*25dup)
| gnomAD v4 |
5 | g.135028755G>A | CA2675353670 | PITX1 | c.*24C>T (n.*24C>T)
| gnomAD v4 |
5 | g.135028755G>C | CA1081831607 | PITX1 | c.*24C>G (n.*24C>G)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028755G= | CA1584336325 | PITX1 | c.*24C= (n.*24C=)
| |
5 | g.135028755G>T | CA2842964912 | PITX1 | c.*24C>A (n.*24C>A)
| |
5 | g.135028756G>A | CA2675353671 | PITX1 | c.*23C>T (n.*23C>T)
| gnomAD v4 |
5 | g.135028756G= | CA1584336326 | PITX1 | c.*23C= (n.*23C=)
| |
5 | g.135028756G>T | CA2675353672 | PITX1 | c.*23C>A (n.*23C>A)
| gnomAD v4 |
5 | g.135028757C>A | CA2842964913 | PITX1 | c.*22G>T (n.*22G>T)
| |
5 | g.135028757C>T | CA2675353673 | PITX1 | c.*22G>A (n.*22G>A)
| gnomAD v4 |
5 | g.135028759dup | CA3417498 | PITX1 | c.*22dup (n.*22dup)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.135028758C>A | CA2842964914 | PITX1 | c.*21G>T (n.*21G>T)
| |
5 | g.135028758C= | CA1584336328 | PITX1 | c.*21G= (n.*21G=)
| |
5 | g.135028758C>G | CA2675353674 | PITX1 | c.*21G>C (n.*21G>C)
| gnomAD v4 |
5 | g.135028758C>T | CA1584336327 | PITX1 | c.*21G>A (n.*21G>A)
| dbSNP gnomAD v4 |
5 | g.135028759C= | CA1584336329 | PITX1 | c.*20G= (n.*20G=)
| |
5 | g.135028759C>G | CA1081831610 | PITX1 | c.*20G>C (n.*20G>C)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028759C>T | CA563059426 | PITX1 | c.*20G>A (n.*20G>A)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.135028759_135028766delinsCGCGTGGT | CA1584336330 | PITX1 | c.*13_*20delinsACCACGCG (n.*13_*20delinsACCACGCG)
| |
5 | g.135028760G>A | CA563059427 | PITX1 | c.*19C>T (n.*19C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028760G>C | CA1584336333 | PITX1 | c.*19C>G (n.*19C>G)
| dbSNP |
5 | g.135028760G= | CA1584336332 | PITX1 | c.*19C= (n.*19C=)
| |
5 | g.135028760G>T | CA2578411531 | PITX1 | c.*19C>A (n.*19C>A)
| |
5 | g.135028763_135028769del | CA1584336331 | PITX1 | c.*13_*19del (n.*13_*19del)
| dbSNP |
5 | g.135028761C>A | CA2675353675 | PITX1 | c.*18G>T (n.*18G>T)
| gnomAD v4 |
5 | g.135028761C>T | CA2578411532 | PITX1 | c.*18G>A (n.*18G>A)
| dbSNP gnomAD v4 |
5 | g.135028762G>A | CA2675353676 | PITX1 | c.*17C>T (n.*17C>T)
| gnomAD v4 |
5 | g.135028762G>C | CA804232773 | PITX1 | c.*17C>G (n.*17C>G)
| dbSNP gnomAD v4 |
5 | g.135028762G= | CA1584336334 | PITX1 | c.*17C= (n.*17C=)
| |
5 | g.135028762G>T | CA2675353677 | PITX1 | c.*17C>A (n.*17C>A)
| gnomAD v4 |
5 | g.135028763T>C | CA563059428 | PITX1 | c.*16A>G (n.*16A>G)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.135028763T= | CA1584336335 | PITX1 | c.*16A= (n.*16A=)
| |
5 | g.135028764G>A | CA563059429 | PITX1 | c.*15C>T (n.*15C>T)
| dbSNP gnomAD v2 |
5 | g.135028764G= | CA1584336336 | PITX1 | c.*15C= (n.*15C=)
| |
5 | g.135028764G>T | CA2839858739 | PITX1 | c.*15C>A (n.*15C>A)
| |
5 | g.135028765G>A | CA2675353678 | PITX1 | c.*14C>T (n.*14C>T)
| gnomAD v4 |
5 | g.135028765G>C | CA563059430 | PITX1 | c.*14C>G (n.*14C>G)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.135028765G= | CA1584336337 | PITX1 | c.*14C= (n.*14C=)
| |
5 | g.135028765G>T | CA2675353679 | PITX1 | c.*14C>A (n.*14C>A)
| gnomAD v4 |
5 | g.135028767G>A | CA2675353680 | PITX1 | c.*12C>T (n.*12C>T)
| gnomAD v4 |
5 | g.135028767G>T | CA2675353681 | PITX1 | c.*12C>A (n.*12C>A)
| gnomAD v4 |
5 | g.135028768C>A | CA1584336339 | PITX1 | c.*11G>T (n.*11G>T)
| dbSNP gnomAD v4 |
5 | g.135028768C= | CA1584336338 | PITX1 | c.*11G= (n.*11G=)
| |
5 | g.135028768C>G | CA1584336340 | PITX1 | c.*11G>C (n.*11G>C)
| dbSNP gnomAD v4 |
5 | g.135028768C>T | CA2578411533 | PITX1 | c.*11G>A (n.*11G>A)
| gnomAD v4 |
5 | g.135028769G>A | CA3417500 | PITX1 | c.*10C>T (n.*10C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.135028769G>C | CA3417499 | PITX1 | c.*10C>G (n.*10C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028769G= | CA1584336341 | PITX1 | c.*10C= (n.*10C=)
| |
5 | g.135028769G>T | CA2675353682 | PITX1 | c.*10C>A (n.*10C>A)
| gnomAD v4 |
5 | g.135028770G>C | CA2578411534 | PITX1 | c.*9C>G (n.*9C>G)
| gnomAD v4 |
5 | g.135028770G>T | CA2839425704 | PITX1 | c.*9C>A (n.*9C>A)
| |
5 | g.135028771C>A | CA3417502 | PITX1 | c.*8G>T (n.*8G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.135028771C= | CA1584336342 | PITX1 | c.*8G= (n.*8G=)
| |
5 | g.135028771C>T | CA3417501 | PITX1 | c.*8G>A (n.*8G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028772G>A | CA3417503 | PITX1 | c.*7C>T (n.*7C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.135028772G= | CA1584336343 | PITX1 | c.*7C= (n.*7C=)
| |
5 | g.135028772G>T | CA563059431 | PITX1 | c.*7C>A (n.*7C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028775del | CA2675353683 | PITX1 | c.*7del (n.*7del)
| gnomAD v4 |
5 | g.135028773G>A | CA1584336345 | PITX1 | c.*6C>T (n.*6C>T)
| dbSNP gnomAD v4 |
5 | g.135028773G>C | CA563059432 | PITX1 | c.*6C>G (n.*6C>G)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.135028773G= | CA1584336344 | PITX1 | c.*6C= (n.*6C=)
| |
5 | g.135028773G>T | CA2675353684 | PITX1 | c.*6C>A (n.*6C>A)
| gnomAD v4 |
5 | g.135028774G>C | CA2675353686 | PITX1 | c.*5C>G (n.*5C>G)
| gnomAD v4 |
5 | g.135028774G= | CA1584336346 | PITX1 | c.*5C= (n.*5C=)
| |
5 | g.135028774G>T | CA2675353685 | PITX1 | c.*5C>A (n.*5C>A)
| gnomAD v4 |
5 | g.135028774_135028775insA | CA3417504 | PITX1 | c.*4_*5insT (n.*4_*5insT)
| dbSNP ExAC |
5 | g.135028775G>A | CA2675353687 | PITX1 | c.*4C>T (n.*4C>T)
| gnomAD v4 |
5 | g.135028775G>C | CA563059433 | PITX1 | c.*4C>G (n.*4C>G)
| dbSNP gnomAD v2 |
5 | g.135028775G= | CA1584336347 | PITX1 | c.*4C= (n.*4C=)
| |
5 | g.135028775G>T | CA3417505 | PITX1 | c.*4C>A (n.*4C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028776C>A | CA2578411535 | PITX1 | c.*3G>T (n.*3G>T)
| gnomAD v4 |
5 | g.135028776C= | CA1584336348 | PITX1 | c.*3G= (n.*3G=)
| |
5 | g.135028776C>G | CA3417506 | PITX1 | c.*3G>C (n.*3G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.135028776C>T | CA804232800 | PITX1 | c.*3G>A (n.*3G>A)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028777_135028780dup | CA2675353688 | PITX1 | c.945_*3dup (n.945_*3dup)
| gnomAD v4 |
5 | g.135028776_135028777insTG | CA563059434 | PITX1 | c.*2_*3insCA (n.*2_*3insCA)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.135028777G>A | CA804232804 | PITX1 | c.*2C>T (n.*2C>T)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028777G= | CA1584336349 | PITX1 | c.*2C= (n.*2C=)
| |
5 | g.135028777G>T | CA563059435 | PITX1 | c.*2C>A (n.*2C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028778G>T | CA2675353689 | PITX1 | c.*1C>A (n.*1C>A)
| gnomAD v4 |
5 | g.135028779T>A | CA361027179 | PITX1 | c.945A>T (p.Ter315Cys)
| |
5 | g.135028779T>C | CA361027180 | PITX1 | c.945A>G (p.Ter315Trp)
| |
5 | g.135028779T>G | CA3417507 | PITX1 | c.945A>C (p.Ter315Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.135028779T= | CA1584336350 | PITX1 | c.945A= (p.Ter315=)
| |
5 | g.135028780C>A | CA361027181 | PITX1 | c.944G>T (p.Ter315Leu)
| |
5 | g.135028780C= | CA1584336351 | PITX1 | c.944G= (p.Ter315=)
| |
5 | g.135028780C>G | CA361027182 | PITX1 | c.944G>C (p.Ter315Ser)
| |
5 | g.135028780C>T | CA446781458 | PITX1 | c.944G>A (p.Ter315=)
| dbSNP |
5 | g.135028781A>C | CA361027183 | PITX1 | c.943T>G (p.Ter315Gly)
| |
5 | g.135028781A>G | CA361027184 | PITX1 | c.943T>C (p.Ter315Arg)
| COSMIC |
5 | g.135028781A>T | CA361027185 | PITX1 | c.943T>A (p.Ter315Arg)
| gnomAD v4 |
5 | g.135028782G>A | CA3417509 | PITX1 | c.942C>T (p.Ser314=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028782G>C | CA3417508 | PITX1 | c.942C>G (p.Ser314Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.135028782G= | CA1584336352 | PITX1 | c.942C= (p.Ser314=)
| |
5 | g.135028782G>T | CA361027186 | PITX1 | c.942C>A (p.Ser314Arg)
| gnomAD v4 |
5 | g.135028783C>A | CA361027187 | PITX1 | c.941G>T (p.Ser314Ile)
| |
5 | g.135028783C>G | CA361027188 | PITX1 | c.941G>C (p.Ser314Thr)
| gnomAD v4 |
5 | g.135028783C>T | CA361027189 | PITX1 | c.941G>A (p.Ser314Asn)
| |
5 | g.135028784T>A | CA361027190 | PITX1 | c.940A>T (p.Ser314Cys)
| |
5 | g.135028784T>C | CA361027192 | PITX1 | c.940A>G (p.Ser314Gly)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028784T>G | CA361027191 | PITX1 | c.940A>C (p.Ser314Arg)
| |
5 | g.135028784T= | CA1584336353 | PITX1 | c.940A= (p.Ser314=)
| |
5 | g.135028785G>A | CA3417510 | PITX1 | c.939C>T (p.Asn313=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.135028785G>C | CA361027193 | PITX1 | c.939C>G (p.Asn313Lys)
| |
5 | g.135028785G= | CA1584336354 | PITX1 | c.939C= (p.Asn313=)
| |
5 | g.135028785G>T | CA361027194 | PITX1 | c.939C>A (p.Asn313Lys)
| |
5 | g.135028786T>A | CA361027195 | PITX1 | c.938A>T (p.Asn313Ile)
| |
5 | g.135028786T>C | CA361027196 | PITX1 | c.938A>G (p.Asn313Ser)
| |
5 | g.135028786T>G | CA361027197 | PITX1 | c.938A>C (p.Asn313Thr)
| |
5 | g.135028787T>A | CA361027200 | PITX1 | c.937A>T (p.Asn313Tyr)
| |
5 | g.135028787T>C | CA361027198 | PITX1 | c.937A>G (p.Asn313Asp)
| |
5 | g.135028787T>G | CA361027199 | PITX1 | c.937A>C (p.Asn313His)
| |
5 | g.135028788G>A | CA446781491 | PITX1 | c.936C>T (p.Tyr312=)
| |
5 | g.135028788G>C | CA361027201 | PITX1 | c.936C>G (p.Tyr312Ter)
| |
5 | g.135028788G= | CA1584336355 | PITX1 | c.936C= (p.Tyr312=)
| |
5 | g.135028788G>T | CA128009165 | PITX1 | c.936C>A (p.Tyr312Ter)
| dbSNP |
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.135028809del | CA2842964915 | PITX1 | c.917del (p.Gly306AlafsTer?)
| |
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)
| |