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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.173234748_173235311delinsACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGAACATGGTGGCAGCGCCAGTCTCACAGCGCCAGGTGGGCGGCAGAAAGCGGCGCTGCCCACGGCCCCTGGCAGCTTCCCTGCATGGTGCCGCCGCCCGCCCGCGCACCCGTCGGCCAGCTCTGGATGTGTCCGGGCAGCAGGTAGCGCTGAGCACAAGGGGCAGGAGAGGCGGGACCAGGCCAGAGGAGGGGGACTCAGCCTGCCATTGGGCCAGGGGCCTCGATGACAGGAG | CA1601616961 | NKX2-5 | c.-228_334+2delinsCTCCTGTCATCGAGGCCCCTGGCCCAATGGCAGGCTGAGTCCCCCTCCTCTGGCCTGGTCCCGCCTCTCCTGCCCCTTGTGCTCAGCGCTACCTGCTGCCCGGACACATCCAGAGCTGGCCGACGGGTGCGCGGGCGGGCGGCGGCACCATGCAGGGAAGCTGCCAGGGGCCGTGGGCAGCGCCGCTTTCTGCCGCCCACCTGGCGCTGTGAGACTGGCGCTGCCACCATGTTCCCCAGCCCTGCTCTCACGCCCACGCCCTTCTCAGTCAAAGACATCCTAAACCTGGAACAGCAGCAGCGCAGCCTGGCTGCCGCCGGAGAGCTCTCTGCCCGCCTGGAGGCGACCCTGGCGCCCTCCTCCTGCATGCTGGCCGCCTTCAAGCCAGAGGCCTACGCTGGGCCCGAGGCGGCTGCGCCGGGCCTCCCAGAGCTGCGCGCAGAGCTGGGCCGCGCGCCTTCACCGGCCAAGTGTGCGTCTGCCTTTCCCGCCGCCCCCGCCTTCTATCCACGTGCCTACAGCGACCCCGACCCAGCCAAGGACCCTAGAGCCGAAAAGAAAGGT | |
| 5 | g.173234750_173235312del | CA915942752 | NKX2-5 | c.-228_334+1del | ClinVar dbSNP |
| 5 | g.173235018_173235020dup | CA1601617095 | NKX2-5 | c.71_73dup (p.Gln24_Arg25insGln) | dbSNP |
| 5 | g.173235019T>A | CA362163758 | NKX2-5 | c.65A>T (p.Gln22Leu) | |
| 5 | g.173235019T>C | CA206627 | NKX2-5 | c.65A>G (p.Gln22Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.173235019T>G | CA132260566 | NKX2-5 | c.65A>C (p.Gln22Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235019T= | CA1601617101 | NKX2-5 | c.65A= (p.Gln22=) | |
| 5 | g.173235020_173235022dup | CA132260558 | NKX2-5 | c.63_65dup (p.Gln22_Gln23insGln) | dbSNP |
| 5 | g.173235020_173235022del | CA2676543195 | NKX2-5 | c.63_65del (p.Gln22del) | gnomAD v4 |
| 5 | g.173235020G>A | CA362163760 | NKX2-5 | c.64C>T (p.Gln22Ter) | |
| 5 | g.173235020G>C | CA3563855 | NKX2-5 | c.64C>G (p.Gln22Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173235020G= | CA1601617102 | NKX2-5 | c.64C= (p.Gln22=) | |
| 5 | g.173235020G>T | CA362163759 | NKX2-5 | c.64C>A (p.Gln22Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235020_173235021insC | CA2676543196 | NKX2-5 | c.63_64insG (p.Gln22AlafsTer?) | gnomAD v4 |
| 5 | g.173235021T>A | CA362163761 | NKX2-5 | c.63A>T (p.Glu21Asp) | dbSNP |
| 5 | g.173235021T>C | CA282476 | NKX2-5 | c.63A>G (p.Glu21=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235021T>G | CA362163762 | NKX2-5 | c.63A>C (p.Glu21Asp) | dbSNP |
| 5 | g.173235021T= | CA1601617103 | NKX2-5 | c.63A= (p.Glu21=) | |
| 5 | g.173235022del | CA2676543197 | NKX2-5 | c.63del (p.Glu21AspfsTer?) | gnomAD v4 |
| 5 | g.173235021_173235022insCC | CA2676543198 | NKX2-5 | c.62_63insGG (p.Gln22AspfsTer?) | gnomAD v4 |
| 5 | g.173235021_173235022insGC | CA2676543199 | NKX2-5 | c.62_63insGC (p.Gln22HisfsTer?) | gnomAD v4 |
| 5 | g.173235022T>A | CA362163763 | NKX2-5 | c.62A>T (p.Glu21Val) | |
| 5 | g.173235022T>C | CA362163764 | NKX2-5 | c.62A>G (p.Glu21Gly) | |
| 5 | g.173235022T>G | CA362163765 | NKX2-5 | c.62A>C (p.Glu21Ala) | |
| 5 | g.173235023C>A | CA362163767 | NKX2-5 | c.61G>T (p.Glu21Ter) | |
| 5 | g.173235023C= | CA1601617104 | NKX2-5 | c.61G= (p.Glu21=) | |
| 5 | g.173235023C>G | CA214394 | NKX2-5 | c.61G>C (p.Glu21Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235023C>T | CA362163766 | NKX2-5 | c.61G>A (p.Glu21Lys) | |
| 5 | g.173235024C>A | CA447975350 | NKX2-5 | c.60G>T (p.Leu20=) | |
| 5 | g.173235024C= | CA1601617105 | NKX2-5 | c.60G= (p.Leu20=) | |
| 5 | g.173235024C>G | CA3563856 | NKX2-5 | c.60G>C (p.Leu20=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235024C>T | CA447975351 | NKX2-5 | c.60G>A (p.Leu20=) | |
| 5 | g.173235025A= | CA1601617106 | NKX2-5 | c.59T= (p.Leu20=) | |
| 5 | g.173235025A>C | CA362163768 | NKX2-5 | c.59T>G (p.Leu20Arg) | |
| 5 | g.173235025A>G | CA362163769 | NKX2-5 | c.59T>C (p.Leu20Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173235025A>T | CA362163770 | NKX2-5 | c.59T>A (p.Leu20Gln) | |
| 5 | g.173235026G>A | CA447975352 | NKX2-5 | c.58C>T (p.Leu20=) | |
| 5 | g.173235026G>C | CA362163771 | NKX2-5 | c.58C>G (p.Leu20Val) | |
| 5 | g.173235026G>T | CA362163772 | NKX2-5 | c.58C>A (p.Leu20Met) | gnomAD v4 |
| 5 | g.173235027G>A | CA447975353 | NKX2-5 | c.57C>T (p.Asn19=) | gnomAD v4 |
| 5 | g.173235027G>C | CA362163774 | NKX2-5 | c.57C>G (p.Asn19Lys) | |
| 5 | g.173235027G>T | CA362163773 | NKX2-5 | c.57C>A (p.Asn19Lys) | |
| 5 | g.173235028T>A | CA362163775 | NKX2-5 | c.56A>T (p.Asn19Ile) | |
| 5 | g.173235028T>C | CA362163776 | NKX2-5 | c.56A>G (p.Asn19Ser) | |
| 5 | g.173235028T>G | CA362163777 | NKX2-5 | c.56A>C (p.Asn19Thr) | |
| 5 | g.173235029T>A | CA362163778 | NKX2-5 | c.55A>T (p.Asn19Tyr) | |
| 5 | g.173235029T>C | CA362163779 | NKX2-5 | c.55A>G (p.Asn19Asp) | |
| 5 | g.173235029T>G | CA362163780 | NKX2-5 | c.55A>C (p.Asn19His) | |
| 5 | g.173235030T>A | CA447975354 | NKX2-5 | c.54A>T (p.Leu18=) | |
| 5 | g.173235030T>C | CA447975355 | NKX2-5 | c.54A>G (p.Leu18=) | |
| 5 | g.173235030T>G | CA447975356 | NKX2-5 | c.54A>C (p.Leu18=) | |
| 5 | g.173235031A>C | CA362163781 | NKX2-5 | c.53T>G (p.Leu18Arg) | |
| 5 | g.173235031A>G | CA362163783 | NKX2-5 | c.53T>C (p.Leu18Pro) | |
| 5 | g.173235031A>T | CA362163782 | NKX2-5 | c.53T>A (p.Leu18Gln) | |
| 5 | g.173235032G>A | CA447975357 | NKX2-5 | c.52C>T (p.Leu18=) | |
| 5 | g.173235032G>C | CA362163784 | NKX2-5 | c.52C>G (p.Leu18Val) | |
| 5 | g.173235032G>T | CA362163785 | NKX2-5 | c.52C>A (p.Leu18Ile) | |
| 5 | g.173235033G>A | CA447975358 | NKX2-5 | c.51C>T (p.Ile17=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173235033G>C | CA362163786 | NKX2-5 | c.51C>G (p.Ile17Met) | |
| 5 | g.173235033G= | CA1601617107 | NKX2-5 | c.51C= (p.Ile17=) | |
| 5 | g.173235033G>T | CA447975359 | NKX2-5 | c.51C>A (p.Ile17=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173235034A>C | CA362163787 | NKX2-5 | c.50T>G (p.Ile17Ser) | |
| 5 | g.173235034A>G | CA362163788 | NKX2-5 | c.50T>C (p.Ile17Thr) | |
| 5 | g.173235034A>T | CA362163789 | NKX2-5 | c.50T>A (p.Ile17Asn) | |
| 5 | g.173235035T>A | CA362163792 | NKX2-5 | c.49A>T (p.Ile17Phe) | |
| 5 | g.173235035T>C | CA362163790 | NKX2-5 | c.49A>G (p.Ile17Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173235035T>G | CA362163791 | NKX2-5 | c.49A>C (p.Ile17Leu) | |
| 5 | g.173235035T= | CA1601617108 | NKX2-5 | c.49A= (p.Ile17=) | |
| 5 | g.173235036G>A | CA447975360 | NKX2-5 | c.48C>T (p.Asp16=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235036G>C | CA362163793 | NKX2-5 | c.48C>G (p.Asp16Glu) | |
| 5 | g.173235036G= | CA1601617109 | NKX2-5 | c.48C= (p.Asp16=) | |
| 5 | g.173235036G>T | CA362163794 | NKX2-5 | c.48C>A (p.Asp16Glu) | |
| 5 | g.173235037T>A | CA362163795 | NKX2-5 | c.47A>T (p.Asp16Val) | |
| 5 | g.173235037T>C | CA362163796 | NKX2-5 | c.47A>G (p.Asp16Gly) | |
| 5 | g.173235037T>G | CA132260599 | NKX2-5 | c.47A>C (p.Asp16Ala) | dbSNP |
| 5 | g.173235037T= | CA1601617110 | NKX2-5 | c.47A= (p.Asp16=) | |
| 5 | g.173235038C>A | CA362163797 | NKX2-5 | c.46G>T (p.Asp16Tyr) | |
| 5 | g.173235038C= | CA1601617111 | NKX2-5 | c.46G= (p.Asp16=) | |
| 5 | g.173235038C>G | CA362163798 | NKX2-5 | c.46G>C (p.Asp16His) | |
| 5 | g.173235038C>T | CA3563857 | NKX2-5 | c.46G>A (p.Asp16Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173235039T>A | CA362163799 | NKX2-5 | c.45A>T (p.Lys15Asn) | gnomAD v4 |
| 5 | g.173235039T>C | CA447975361 | NKX2-5 | c.45A>G (p.Lys15=) | gnomAD v4 COSMIC |
| 5 | g.173235039T>G | CA362163800 | NKX2-5 | c.45A>C (p.Lys15Asn) | gnomAD v4 |
| 5 | g.173235040T>A | CA212677 | NKX2-5 | c.44A>T (p.Lys15Ile) | ClinVar dbSNP |
| 5 | g.173235040T>C | CA362163801 | NKX2-5 | c.44A>G (p.Lys15Arg) | |
| 5 | g.173235040T>G | CA362163802 | NKX2-5 | c.44A>C (p.Lys15Thr) | |
| 5 | g.173235040T= | CA1601617113 | NKX2-5 | c.44A= (p.Lys15=) | |
| 5 | g.173235040_173235044delinsTTGAC | CA1601617112 | NKX2-5 | c.40_44delinsGTCAA (p.Val14=) | |
| 5 | g.173235041T>A | CA362163803 | NKX2-5 | c.43A>T (p.Lys15Ter) | |
| 5 | g.173235041T>C | CA362163804 | NKX2-5 | c.43A>G (p.Lys15Glu) | |
| 5 | g.173235041T>G | CA362163805 | NKX2-5 | c.43A>C (p.Lys15Gln) | |
| 5 | g.173235044_173235047del | CA564904278 | NKX2-5 | c.40_43del (p.Val14LysfsTer4) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235042G>A | CA447975362 | NKX2-5 | c.42C>T (p.Val14=) | |
| 5 | g.173235042G>C | CA447975363 | NKX2-5 | c.42C>G (p.Val14=) | |
| 5 | g.173235042G>T | CA447975364 | NKX2-5 | c.42C>A (p.Val14=) | gnomAD v4 |
| 5 | g.173235043A>C | CA362163806 | NKX2-5 | c.41T>G (p.Val14Gly) | |
| 5 | g.173235043A>G | CA362163807 | NKX2-5 | c.41T>C (p.Val14Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173235043A>T | CA362163808 | NKX2-5 | c.41T>A (p.Val14Asp) | |
| 5 | g.173235044C>A | CA362163809 | NKX2-5 | c.40G>T (p.Val14Phe) | |
| 5 | g.173235044C>G | CA362163811 | NKX2-5 | c.40G>C (p.Val14Leu) | |
| 5 | g.173235044C>T | CA362163810 | NKX2-5 | c.40G>A (p.Val14Ile) | gnomAD v4 |
| 5 | g.173235045T>A | CA447975365 | NKX2-5 | c.39A>T (p.Ser13=) | |
| 5 | g.173235045T>C | CA447975366 | NKX2-5 | c.39A>G (p.Ser13=) | dbSNP |
| 5 | g.173235045T>G | CA447975367 | NKX2-5 | c.39A>C (p.Ser13=) | |
| 5 | g.173235045T= | CA1601617114 | NKX2-5 | c.39A= (p.Ser13=) | |
| 5 | g.173235046G>A | CA362163812 | NKX2-5 | c.38C>T (p.Ser13Leu) | gnomAD v4 |
| 5 | g.173235046G>C | CA362163814 | NKX2-5 | c.38C>G (p.Ser13Ter) | |
| 5 | g.173235046G>T | CA362163813 | NKX2-5 | c.38C>A (p.Ser13Ter) | |
| 5 | g.173235047A>C | CA362163815 | NKX2-5 | c.37T>G (p.Ser13Ala) | |
| 5 | g.173235047A>G | CA362163816 | NKX2-5 | c.37T>C (p.Ser13Pro) | |
| 5 | g.173235047A>T | CA362163817 | NKX2-5 | c.37T>A (p.Ser13Thr) | |
| 5 | g.173235048G>A | CA3563858 | NKX2-5 | c.36C>T (p.Phe12=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173235048G>C | CA362163818 | NKX2-5 | c.36C>G (p.Phe12Leu) | |
| 5 | g.173235048G= | CA1601617115 | NKX2-5 | c.36C= (p.Phe12=) | |
| 5 | g.173235048G>T | CA362163819 | NKX2-5 | c.36C>A (p.Phe12Leu) | |
| 5 | g.173235049A= | CA1601617116 | NKX2-5 | c.35T= (p.Phe12=) | |
| 5 | g.173235049A>C | CA362163820 | NKX2-5 | c.35T>G (p.Phe12Cys) | |
| 5 | g.173235049A>G | CA362163821 | NKX2-5 | c.35T>C (p.Phe12Ser) | ClinVar dbSNP |
| 5 | g.173235049A>T | CA362163822 | NKX2-5 | c.35T>A (p.Phe12Tyr) | |
| 5 | g.173235050A= | CA1601617117 | NKX2-5 | c.34T= (p.Phe12=) | |
| 5 | g.173235050A>C | CA362163823 | NKX2-5 | c.34T>G (p.Phe12Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173235050A>G | CA362163824 | NKX2-5 | c.34T>C (p.Phe12Leu) | |
| 5 | g.173235050A>T | CA362163825 | NKX2-5 | c.34T>A (p.Phe12Ile) | |
| 5 | g.173235051G>A | CA447975368 | NKX2-5 | c.33C>T (p.Pro11=) | dbSNP gnomAD v4 |
| 5 | g.173235051G>C | CA447975369 | NKX2-5 | c.33C>G (p.Pro11=) | |
| 5 | g.173235051G= | CA1601617118 | NKX2-5 | c.33C= (p.Pro11=) | |
| 5 | g.173235051G>T | CA447975370 | NKX2-5 | c.33C>A (p.Pro11=) | |
| 5 | g.173235052G>A | CA362163826 | NKX2-5 | c.32C>T (p.Pro11Leu) | gnomAD v4 |
| 5 | g.173235052G>C | CA362163828 | NKX2-5 | c.32C>G (p.Pro11Arg) | |
| 5 | g.173235052G>T | CA362163827 | NKX2-5 | c.32C>A (p.Pro11His) | |
| 5 | g.173235053G>A | CA362163829 | NKX2-5 | c.31C>T (p.Pro11Ser) | |
| 5 | g.173235053G>C | CA362163830 | NKX2-5 | c.31C>G (p.Pro11Ala) | |
| 5 | g.173235053G>T | CA362163831 | NKX2-5 | c.31C>A (p.Pro11Thr) | gnomAD v4 |
| 5 | g.173235054C>A | CA447975371 | NKX2-5 | c.30G>T (p.Thr10=) | |
| 5 | g.173235054C= | CA1601617119 | NKX2-5 | c.30G= (p.Thr10=) | |
| 5 | g.173235054C>G | CA447975372 | NKX2-5 | c.30G>C (p.Thr10=) | |
| 5 | g.173235054C>T | CA3563859 | NKX2-5 | c.30G>A (p.Thr10=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235055G>A | CA362163832 | NKX2-5 | c.29C>T (p.Thr10Met) | |
| 5 | g.173235055G>C | CA362163833 | NKX2-5 | c.29C>G (p.Thr10Arg) | gnomAD v4 |
| 5 | g.173235055G>T | CA362163834 | NKX2-5 | c.29C>A (p.Thr10Lys) | |
| 5 | g.173235056T>A | CA362163835 | NKX2-5 | c.28A>T (p.Thr10Ser) | |
| 5 | g.173235056T>C | CA362163836 | NKX2-5 | c.28A>G (p.Thr10Ala) | |
| 5 | g.173235056T>G | CA362163837 | NKX2-5 | c.28A>C (p.Thr10Pro) | |
| 5 | g.173235056dup | CA2676543200 | NKX2-5 | c.28dup (p.Thr10AsnfsTer?) | gnomAD v4 |
| 5 | g.173235057G>A | CA447975373 | NKX2-5 | c.27C>T (p.Pro9=) | |
| 5 | g.173235057G>C | CA447975374 | NKX2-5 | c.27C>G (p.Pro9=) | |
| 5 | g.173235057G>T | CA447975375 | NKX2-5 | c.27C>A (p.Pro9=) | gnomAD v4 |
| 5 | g.173235058G>A | CA362163839 | NKX2-5 | c.26C>T (p.Pro9Leu) | |
| 5 | g.173235058G>C | CA362163840 | NKX2-5 | c.26C>G (p.Pro9Arg) | |
| 5 | g.173235058G>T | CA362163838 | NKX2-5 | c.26C>A (p.Pro9His) | |
| 5 | g.173235059G>A | CA362163841 | NKX2-5 | c.25C>T (p.Pro9Ser) | |
| 5 | g.173235059G>C | CA362163842 | NKX2-5 | c.25C>G (p.Pro9Ala) | |
| 5 | g.173235059G>T | CA362163843 | NKX2-5 | c.25C>A (p.Pro9Thr) | |
| 5 | g.173235060C>A | CA447975376 | NKX2-5 | c.24G>T (p.Thr8=) | |
| 5 | g.173235060C= | CA1601617120 | NKX2-5 | c.24G= (p.Thr8=) | |
| 5 | g.173235060C>G | CA447975377 | NKX2-5 | c.24G>C (p.Thr8=) | |
| 5 | g.173235060C>T | CA3563860 | NKX2-5 | c.24G>A (p.Thr8=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235061G>A | CA3563861 | NKX2-5 | c.23C>T (p.Thr8Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235061G>C | CA362163844 | NKX2-5 | c.23C>G (p.Thr8Arg) | ClinVar |
| 5 | g.173235061G= | CA1601617121 | NKX2-5 | c.23C= (p.Thr8=) | |
| 5 | g.173235061G>T | CA362163845 | NKX2-5 | c.23C>A (p.Thr8Lys) | |
| 5 | g.173235062T>A | CA362163846 | NKX2-5 | c.22A>T (p.Thr8Ser) | |
| 5 | g.173235062T>C | CA362163848 | NKX2-5 | c.22A>G (p.Thr8Ala) | dbSNP gnomAD v2 |
| 5 | g.173235062T>G | CA362163847 | NKX2-5 | c.22A>C (p.Thr8Pro) | |
| 5 | g.173235062T= | CA1601617122 | NKX2-5 | c.22A= (p.Thr8=) | |
| 5 | g.173235063G>A | CA447975378 | NKX2-5 | c.21C>T (p.Leu7=) | |
| 5 | g.173235063G>C | CA447975379 | NKX2-5 | c.21C>G (p.Leu7=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173235063G= | CA1601617123 | NKX2-5 | c.21C= (p.Leu7=) | |
| 5 | g.173235063G>T | CA132260625 | NKX2-5 | c.21C>A (p.Leu7=) | dbSNP |
| 5 | g.173235064A>C | CA362163849 | NKX2-5 | c.20T>G (p.Leu7Arg) | |
| 5 | g.173235064A>G | CA362163850 | NKX2-5 | c.20T>C (p.Leu7Pro) | |
| 5 | g.173235064A>T | CA362163851 | NKX2-5 | c.20T>A (p.Leu7His) | |
| 5 | g.173235065G>A | CA362163852 | NKX2-5 | c.19C>T (p.Leu7Phe) | |
| 5 | g.173235065G>C | CA362163854 | NKX2-5 | c.19C>G (p.Leu7Val) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173235065G= | CA1601617124 | NKX2-5 | c.19C= (p.Leu7=) | |
| 5 | g.173235065G>T | CA362163853 | NKX2-5 | c.19C>A (p.Leu7Ile) | gnomAD v4 |
| 5 | g.173235066A>C | CA447975380 | NKX2-5 | c.18T>G (p.Ala6=) | |
| 5 | g.173235066A>G | CA447975381 | NKX2-5 | c.18T>C (p.Ala6=) | |
| 5 | g.173235066A>T | CA447975382 | NKX2-5 | c.18T>A (p.Ala6=) | |
| 5 | g.173235067G>A | CA362163855 | NKX2-5 | c.17C>T (p.Ala6Val) | gnomAD v4 |
| 5 | g.173235067G>C | CA362163856 | NKX2-5 | c.17C>G (p.Ala6Gly) | dbSNP gnomAD v4 |
| 5 | g.173235067G= | CA1601617125 | NKX2-5 | c.17C= (p.Ala6=) | |
| 5 | g.173235067G>T | CA362163857 | NKX2-5 | c.17C>A (p.Ala6Asp) | |
| 5 | g.173235068C>A | CA362163858 | NKX2-5 | c.16G>T (p.Ala6Ser) | |
| 5 | g.173235068C= | CA1601617126 | NKX2-5 | c.16G= (p.Ala6=) | |
| 5 | g.173235068C>G | CA362163859 | NKX2-5 | c.16G>C (p.Ala6Pro) | |
| 5 | g.173235068C>T | CA3563862 | NKX2-5 | c.16G>A (p.Ala6Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173235069A= | CA1601617127 | NKX2-5 | c.15T= (p.Pro5=) | |
| 5 | g.173235069A>C | CA447975383 | NKX2-5 | c.15T>G (p.Pro5=) | |
| 5 | g.173235069A>G | CA3563863 | NKX2-5 | c.15T>C (p.Pro5=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173235069A>T | CA447975384 | NKX2-5 | c.15T>A (p.Pro5=) | dbSNP |
| 5 | g.173235070G>A | CA362163860 | NKX2-5 | c.14C>T (p.Pro5Leu) | |
| 5 | g.173235070G>C | CA362163861 | NKX2-5 | c.14C>G (p.Pro5Arg) | ClinVar gnomAD v4 |
| 5 | g.173235070G>T | CA362163862 | NKX2-5 | c.14C>A (p.Pro5His) | |
| 5 | g.173235071G>A | CA3563864 | NKX2-5 | c.13C>T (p.Pro5Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235071G>C | CA362163863 | NKX2-5 | c.13C>G (p.Pro5Ala) | gnomAD v4 |
| 5 | g.173235071G= | CA1601617128 | NKX2-5 | c.13C= (p.Pro5=) | |
| 5 | g.173235071G>T | CA362163864 | NKX2-5 | c.13C>A (p.Pro5Thr) | dbSNP |
| 5 | g.173235072G>A | CA447975385 | NKX2-5 | c.12C>T (p.Ser4=) | |
| 5 | g.173235072G>C | CA362163866 | NKX2-5 | c.12C>G (p.Ser4Arg) | |
| 5 | g.173235072G>T | CA362163865 | NKX2-5 | c.12C>A (p.Ser4Arg) | |
| 5 | g.173235073C>A | CA362163867 | NKX2-5 | c.11G>T (p.Ser4Ile) | gnomAD v3 gnomAD v4 |
| 5 | g.173235073C= | CA1601617129 | NKX2-5 | c.11G= (p.Ser4=) | |
| 5 | g.173235073C>G | CA362163869 | NKX2-5 | c.11G>C (p.Ser4Thr) | |
| 5 | g.173235073C>T | CA362163868 | NKX2-5 | c.11G>A (p.Ser4Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173235074T>A | CA362163870 | NKX2-5 | c.10A>T (p.Ser4Cys) | |
| 5 | g.173235074T>C | CA362163872 | NKX2-5 | c.10A>G (p.Ser4Gly) | ClinVar dbSNP gnomAD v4 |
| 5 | g.173235074T>G | CA362163871 | NKX2-5 | c.10A>C (p.Ser4Arg) | |
| 5 | g.173235074T= | CA1601617130 | NKX2-5 | c.10A= (p.Ser4=) | |
| 5 | g.173235075G>A | CA447975386 | NKX2-5 | c.9C>T (p.Pro3=) | |
| 5 | g.173235075G>C | CA447975388 | NKX2-5 | c.9C>G (p.Pro3=) | COSMIC |
| 5 | g.173235075G>T | CA447975387 | NKX2-5 | c.9C>A (p.Pro3=) | |
| 5 | g.173235076G>A | CA362163873 | NKX2-5 | c.8C>T (p.Pro3Leu) | |
| 5 | g.173235076G>C | CA362163875 | NKX2-5 | c.8C>G (p.Pro3Arg) | gnomAD v4 |
| 5 | g.173235076G>T | CA362163874 | NKX2-5 | c.8C>A (p.Pro3His) | gnomAD v4 |
| 5 | g.173235077G>A | CA362163876 | NKX2-5 | c.7C>T (p.Pro3Ser) | |
| 5 | g.173235077G>C | CA362163878 | NKX2-5 | c.7C>G (p.Pro3Ala) | gnomAD v4 |
| 5 | g.173235077G>T | CA362163877 | NKX2-5 | c.7C>A (p.Pro3Thr) | |
| 5 | g.173235078G>A | CA447975389 | NKX2-5 | c.6C>T (p.Phe2=) | |
| 5 | g.173235078G>C | CA362163879 | NKX2-5 | c.6C>G (p.Phe2Leu) | |
| 5 | g.173235078G>T | CA362163880 | NKX2-5 | c.6C>A (p.Phe2Leu) | |
| 5 | g.173235079A>C | CA362163881 | NKX2-5 | c.5T>G (p.Phe2Cys) | |
| 5 | g.173235079A>G | CA362163883 | NKX2-5 | c.5T>C (p.Phe2Ser) | |
| 5 | g.173235079A>T | CA362163882 | NKX2-5 | c.5T>A (p.Phe2Tyr) | |
| 5 | g.173235080A>C | CA362163884 | NKX2-5 | c.4T>G (p.Phe2Val) | |
| 5 | g.173235080A>G | CA362163885 | NKX2-5 | c.4T>C (p.Phe2Leu) | gnomAD v4 |
| 5 | g.173235080A>T | CA362163886 | NKX2-5 | c.4T>A (p.Phe2Ile) | |
| 5 | g.173235081C>A | CA362163887 | NKX2-5 | c.3G>T (p.Met1Ile) | |
| 5 | g.173235081C>G | CA362163888 | NKX2-5 | c.3G>C (p.Met1Ile) | |
| 5 | g.173235081C>T | CA362163889 | NKX2-5 | c.3G>A (p.Met1Ile) | |
| 5 | g.173235082A= | CA1601617131 | NKX2-5 | c.2T= (p.Met1=) | |
| 5 | g.173235082A>C | CA362163890 | NKX2-5 | c.2T>G (p.Met1Arg) | |
| 5 | g.173235082A>G | CA362163891 | NKX2-5 | c.2T>C (p.Met1Thr) | dbSNP |
| 5 | g.173235082A>T | CA362163892 | NKX2-5 | c.2T>A (p.Met1Lys) | ClinVar |
| 5 | g.173235083T>A | CA362163893 | NKX2-5 | c.1A>T (p.Met1Leu) | |
| 5 | g.173235083T>C | CA362163894 | NKX2-5 | c.1A>G (p.Met1Val) | |
| 5 | g.173235083T>G | CA362163895 | NKX2-5 | c.1A>C (p.Met1Leu) | |
| 5 | g.173235084G>A | CA2578487515 | NKX2-5 | c.-1C>T (n.-1C>T) | gnomAD v4 |
| 5 | g.173235084G= | CA1601617132 | NKX2-5 | c.-1C= (n.-1C=) | |
| 5 | g.173235084G>T | CA1601617133 | NKX2-5 | c.-1C>A (n.-1C>A) | dbSNP |
| 5 | g.173235085G>A | CA3563865 | NKX2-5 | c.-2C>T (n.-2C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235085G>C | CA2676543201 | NKX2-5 | c.-2C>G (n.-2C>G) | gnomAD v4 |
| 5 | g.173235085G= | CA1601617134 | NKX2-5 | c.-2C= (n.-2C=) | |
| 5 | g.173235087G= | CA1601617135 | NKX2-5 | c.-4C= (n.-4C=) | |
| 5 | g.173235087G>T | CA564904279 | NKX2-5 | c.-4C>A (n.-4C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173235088G>A | CA2676543202 | NKX2-5 | c.-5C>T (n.-5C>T) | gnomAD v4 |
| 5 | g.173235088G>C | CA2769460742 | NKX2-5 | c.-5C>G (n.-5C>G) | |
| 5 | g.173235088_173235101dup | CA2578487516 | NKX2-5 | c.-18_-5dup (n.-18_-5dup) | |
| 5 | g.173235088_173235102delinsGCAGCGCCAGTCTCA | CA1601617136 | NKX2-5 | c.-19_-5delinsTGAGACTGGCGCTGC (n.-19_-5delinsTGAGACTGGCGCTGC) | |
| 5 | g.173235089C= | CA1601617137 | NKX2-5 | c.-6G= (n.-6G=) | |
| 5 | g.173235089C>T | CA807697876 | NKX2-5 | c.-6G>A (n.-6G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173235098_173235111del | CA3563866 | NKX2-5 | c.-19_-6del (n.-19_-6del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235090A>G | CA2578487517 | NKX2-5 | c.-7T>C (n.-7T>C) | |
| 5 | g.173235091G>A | CA2676543203 | NKX2-5 | c.-8C>T (n.-8C>T) | gnomAD v4 |
| 5 | g.173235091G>C | CA2578487518 | NKX2-5 | c.-8C>G (n.-8C>G) | gnomAD v4 |
| 5 | g.173235092C>A | CA1601617139 | NKX2-5 | c.-9G>T (n.-9G>T) | dbSNP gnomAD v4 |
| 5 | g.173235092C= | CA1601617138 | NKX2-5 | c.-9G= (n.-9G=) | |
| 5 | g.173235092C>T | CA3563867 | NKX2-5 | c.-9G>A (n.-9G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173235093G>A | CA564904280 | NKX2-5 | c.-10C>T (n.-10C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235093G>C | CA132260654 | NKX2-5 | c.-10C>G (n.-10C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173235093G= | CA1601617140 | NKX2-5 | c.-10C= (n.-10C=) | |
| 5 | g.173235093G>T | CA2578487519 | NKX2-5 | c.-10C>A (n.-10C>A) | gnomAD v4 |
| 5 | g.173235095C= | CA1601617141 | NKX2-5 | c.-12G= (n.-12G=) | |
| 5 | g.173235095C>G | CA2676543204 | NKX2-5 | c.-12G>C (n.-12G>C) | gnomAD v4 |
| 5 | g.173235095C>T | CA564904281 | NKX2-5 | c.-12G>A (n.-12G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173235096A= | CA1601617142 | NKX2-5 | c.-13T= (n.-13T=) | |
| 5 | g.173235096A>C | CA2676543205 | NKX2-5 | c.-13T>G (n.-13T>G) | gnomAD v4 |
| 5 | g.173235096A>G | CA1084496831 | NKX2-5 | c.-13T>C (n.-13T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173235097G>A | CA2676543206 | NKX2-5 | c.-14C>T (n.-14C>T) | gnomAD v4 |
| 5 | g.173235097G>C | CA3563868 | NKX2-5 | c.-14C>G (n.-14C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173235097G= | CA1601617143 | NKX2-5 | c.-14C= (n.-14C=) | |
| 5 | g.173235098_173235118delinsTCTCACAGCGCCAGGTGGGCG | CA1601617144 | NKX2-5 | c.-35_-15delinsCGCCCACCTGGCGCTGTGAGA (n.-35_-15delinsCGCCCACCTGGCGCTGTGAGA) | |
| 5 | g.173235099C= | CA1601617146 | NKX2-5 | c.-16G= (n.-16G=) | |
| 5 | g.173235099C>G | CA1084496835 | NKX2-5 | c.-16G>C (n.-16G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173235099C>T | CA1084496836 | NKX2-5 | c.-16G>A (n.-16G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173235099_173235118del | CA1601617145 | NKX2-5 | c.-35_-16del (n.-35_-16del) | dbSNP |
| 5 | g.173235103C>A | CA2676543207 | NKX2-5 | c.-20G>T (n.-20G>T) | gnomAD v4 |
| 5 | g.173235104A>C | CA2676543208 | NKX2-5 | c.-21T>G (n.-21T>G) | gnomAD v4 |
| 5 | g.173235105G>A | CA2676543209 | NKX2-5 | c.-22C>T (n.-22C>T) | gnomAD v4 |
| 5 | g.173235105G>C | CA2676543210 | NKX2-5 | c.-22C>G (n.-22C>G) | gnomAD v4 |
| 5 | g.173235106C>A | CA807697958 | NKX2-5 | c.-23G>T (n.-23G>T) | dbSNP gnomAD v4 |
| 5 | g.173235106C= | CA1601617147 | NKX2-5 | c.-23G= (n.-23G=) | |
| 5 | g.173235106C>T | CA2676543211 | NKX2-5 | c.-23G>A (n.-23G>A) | gnomAD v4 |
| 5 | g.173235107G>A | CA3563869 | NKX2-5 | c.-24C>T (n.-24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235107G= | CA1601617148 | NKX2-5 | c.-24C= (n.-24C=) | |
| 5 | g.173235108C= | CA1601617149 | NKX2-5 | c.-25G= (n.-25G=) | |
| 5 | g.173235108C>G | CA3563870 | NKX2-5 | c.-25G>C (n.-25G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235108C>T | CA2676543213 | NKX2-5 | c.-25G>A (n.-25G>A) | gnomAD v4 |
| 5 | g.173235109del | CA2676543212 | NKX2-5 | c.-25del (n.-25del) | gnomAD v4 |
| 5 | g.173235109C>A | CA2676543214 | NKX2-5 | c.-26G>T (n.-26G>T) | gnomAD v4 |
| 5 | g.173235109C>T | CA2676543215 | NKX2-5 | c.-26G>A (n.-26G>A) | gnomAD v4 |
| 5 | g.173235109_173235110insGCTTTCTGCCGCCCACCTGGCGCTGTG | CA2838489136 | NKX2-5 | c.-27_-26insCACAGCGCCAGGTGGGCGGCAGAAAGC (n.-27_-26insCACAGCGCCAGGTGGGCGGCAGAAAGC) | |
| 5 | g.173235110A>G | CA2676543216 | NKX2-5 | c.-27T>C (n.-27T>C) | gnomAD v4 |
| 5 | g.173235111G>C | CA2676543217 | NKX2-5 | c.-28C>G (n.-28C>G) | gnomAD v4 |
| 5 | g.173235112G>A | CA3563871 | NKX2-5 | c.-29C>T (n.-29C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235112G>C | CA807697963 | NKX2-5 | c.-29C>G (n.-29C>G) | dbSNP |
| 5 | g.173235112G= | CA1601617150 | NKX2-5 | c.-29C= (n.-29C=) | |
| 5 | g.173235112G>T | CA2769460743 | NKX2-5 | c.-29C>A (n.-29C>A) | |
| 5 | g.173235116G>C | CA2676543218 | NKX2-5 | c.-33C>G (n.-33C>G) | gnomAD v4 |
| 5 | g.173235117C>A | CA2578487520 | NKX2-5 | c.-34G>T (n.-34G>T) | gnomAD v4 |
| 5 | g.173235117C>T | CA2676543219 | NKX2-5 | c.-34G>A (n.-34G>A) | gnomAD v4 |
| 5 | g.173235118G>A | CA564904282 | NKX2-5 | c.-35C>T (n.-35C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173235118G= | CA1601617151 | NKX2-5 | c.-35C= (n.-35C=) | |
| 5 | g.173235118G>T | CA2676543220 | NKX2-5 | c.-35C>A (n.-35C>A) | gnomAD v4 |
| 5 | g.173235119G>A | CA1601617153 | NKX2-5 | c.-36C>T (n.-36C>T) | dbSNP gnomAD v4 |
| 5 | g.173235119G= | CA1601617152 | NKX2-5 | c.-36C= (n.-36C=) |