| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.173234688T>C | CA2676542981 | NKX2-5 | c.334+62A>G (n.334+62A>G) | gnomAD v4 |
| 5 | g.173234688T>G | CA2606419282 | NKX2-5 | c.334+62A>C (n.334+62A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234690A>T | CA2578487507 | NKX2-5 | c.334+60T>A (n.334+60T>A) | |
| 5 | g.173234691G>T | CA2676542982 | NKX2-5 | c.334+59C>A (n.334+59C>A) | gnomAD v4 |
| 5 | g.173234692T>C | CA2676542983 | NKX2-5 | c.334+58A>G (n.334+58A>G) | gnomAD v4 |
| 5 | g.173234692T>G | CA1601616931 | NKX2-5 | c.334+58A>C (n.334+58A>C) | dbSNP gnomAD v4 |
| 5 | g.173234692T= | CA1601616930 | NKX2-5 | c.334+58A= (n.334+58A=) | |
| 5 | g.173234694T>C | CA2676542984 | NKX2-5 | c.334+56A>G (n.334+56A>G) | gnomAD v4 |
| 5 | g.173234695C>A | CA2676542985 | NKX2-5 | c.334+55G>T (n.334+55G>T) | gnomAD v4 |
| 5 | g.173234695C>T | CA2710699834 | NKX2-5 | c.334+55G>A (n.334+55G>A) | dbSNP |
| 5 | g.173234696T>C | CA807697071 | NKX2-5 | c.334+54A>G (n.334+54A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234696T= | CA1601616932 | NKX2-5 | c.334+54A= (n.334+54A=) | |
| 5 | g.173234697T>A | CA564904270 | NKX2-5 | c.334+53A>T (n.334+53A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234697T>G | CA1601616934 | NKX2-5 | c.334+53A>C (n.334+53A>C) | dbSNP |
| 5 | g.173234697T= | CA1601616933 | NKX2-5 | c.334+53A= (n.334+53A=) | |
| 5 | g.173234698G>T | CA2578487508 | NKX2-5 | c.334+52C>A (n.334+52C>A) | gnomAD v4 |
| 5 | g.173234701dup | CA2676542986 | NKX2-5 | c.334+52dup (n.334+52dup) | gnomAD v4 |
| 5 | g.173234699G>T | CA2676542987 | NKX2-5 | c.334+51C>A (n.334+51C>A) | gnomAD v4 |
| 5 | g.173234700G>C | CA2676542988 | NKX2-5 | c.334+50C>G (n.334+50C>G) | gnomAD v4 |
| 5 | g.173234700G>T | CA2578487509 | NKX2-5 | c.334+50C>A (n.334+50C>A) | |
| 5 | g.173234701G>C | CA2676542989 | NKX2-5 | c.334+49C>G (n.334+49C>G) | gnomAD v4 |
| 5 | g.173234701G>T | CA2676542990 | NKX2-5 | c.334+49C>A (n.334+49C>A) | gnomAD v4 |
| 5 | g.173234702A>C | CA2710699835 | NKX2-5 | c.334+48T>G (n.334+48T>G) | dbSNP |
| 5 | g.173234702_173234708delinsACGAAAG | CA1601616935 | NKX2-5 | c.334+42_334+48delinsCTTTCGT (n.334+42_334+48delinsCTTTCGT) | |
| 5 | g.173234703C>A | CA2676542991 | NKX2-5 | c.334+47G>T (n.334+47G>T) | gnomAD v4 |
| 5 | g.173234703C= | CA1601616936 | NKX2-5 | c.334+47G= (n.334+47G=) | |
| 5 | g.173234703C>T | CA3563796 | NKX2-5 | c.334+47G>A (n.334+47G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234706_173234711del | CA807697076 | NKX2-5 | c.334+42_334+47del (n.334+42_334+47del) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234704G>A | CA3563797 | NKX2-5 | c.334+46C>T (n.334+46C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234704G= | CA1601616937 | NKX2-5 | c.334+46C= (n.334+46C=) | |
| 5 | g.173234705A= | CA1601616938 | NKX2-5 | c.334+45T= (n.334+45T=) | |
| 5 | g.173234705A>G | CA1601616939 | NKX2-5 | c.334+45T>C (n.334+45T>C) | dbSNP gnomAD v4 |
| 5 | g.173234706A>C | CA2676542992 | NKX2-5 | c.334+44T>G (n.334+44T>G) | gnomAD v4 |
| 5 | g.173234707A>C | CA2676542993 | NKX2-5 | c.334+43T>G (n.334+43T>G) | gnomAD v4 |
| 5 | g.173234707A>G | CA2710699841 | NKX2-5 | c.334+43T>C (n.334+43T>C) | dbSNP |
| 5 | g.173234709C>A | CA1601616941 | NKX2-5 | c.334+41G>T (n.334+41G>T) | dbSNP gnomAD v4 |
| 5 | g.173234709C= | CA1601616940 | NKX2-5 | c.334+41G= (n.334+41G=) | |
| 5 | g.173234709C>T | CA2578487510 | NKX2-5 | c.334+41G>A (n.334+41G>A) | gnomAD v4 |
| 5 | g.173234710G>A | CA2676542994 | NKX2-5 | c.334+40C>T (n.334+40C>T) | gnomAD v4 |
| 5 | g.173234711A= | CA1601616942 | NKX2-5 | c.334+39T= (n.334+39T=) | |
| 5 | g.173234711A>G | CA132260289 | NKX2-5 | c.334+39T>C (n.334+39T>C) | dbSNP gnomAD v4 |
| 5 | g.173234712C>A | CA2676542995 | NKX2-5 | c.334+38G>T (n.334+38G>T) | gnomAD v4 |
| 5 | g.173234714C>T | CA2676542996 | NKX2-5 | c.334+36G>A (n.334+36G>A) | gnomAD v4 |
| 5 | g.173234715A>G | CA2676542997 | NKX2-5 | c.334+35T>C (n.334+35T>C) | gnomAD v4 |
| 5 | g.173234716G>C | CA564904271 | NKX2-5 | c.334+34C>G (n.334+34C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234716G= | CA1601616943 | NKX2-5 | c.334+34C= (n.334+34C=) | |
| 5 | g.173234716G>T | CA564904272 | NKX2-5 | c.334+34C>A (n.334+34C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234717G>A | CA2676542998 | NKX2-5 | c.334+33C>T (n.334+33C>T) | gnomAD v4 |
| 5 | g.173234717G>T | CA2676542999 | NKX2-5 | c.334+33C>A (n.334+33C>A) | gnomAD v4 |
| 5 | g.173234718A= | CA1601616945 | NKX2-5 | c.334+32T= (n.334+32T=) | |
| 5 | g.173234718A>G | CA1601616944 | NKX2-5 | c.334+32T>C (n.334+32T>C) | dbSNP |
| 5 | g.173234719G>A | CA3563798 | NKX2-5 | c.334+31C>T (n.334+31C>T) | dbSNP ExAC gnomAD v2 |
| 5 | g.173234719G>C | CA2676543000 | NKX2-5 | c.334+31C>G (n.334+31C>G) | gnomAD v4 |
| 5 | g.173234719G= | CA1601616946 | NKX2-5 | c.334+31C= (n.334+31C=) | |
| 5 | g.173234719G>T | CA2578487511 | NKX2-5 | c.334+31C>A (n.334+31C>A) | gnomAD v4 |
| 5 | g.173234720G>A | CA1601616948 | NKX2-5 | c.334+30C>T (n.334+30C>T) | dbSNP gnomAD v4 |
| 5 | g.173234720G= | CA1601616947 | NKX2-5 | c.334+30C= (n.334+30C=) | |
| 5 | g.173234720G>T | CA2676543001 | NKX2-5 | c.334+30C>A (n.334+30C>A) | gnomAD v4 |
| 5 | g.173234721G>A | CA2676543002 | NKX2-5 | c.334+29C>T (n.334+29C>T) | gnomAD v4 |
| 5 | g.173234721G>T | CA2676543003 | NKX2-5 | c.334+29C>A (n.334+29C>A) | gnomAD v4 |
| 5 | g.173234722G>A | CA3563800 | NKX2-5 | c.334+28C>T (n.334+28C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234722G>C | CA3563799 | NKX2-5 | c.334+28C>G (n.334+28C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234722G= | CA1601616949 | NKX2-5 | c.334+28C= (n.334+28C=) | |
| 5 | g.173234722G>T | CA2676543004 | NKX2-5 | c.334+28C>A (n.334+28C>A) | gnomAD v4 |
| 5 | g.173234723A>G | CA2676543005 | NKX2-5 | c.334+27T>C (n.334+27T>C) | gnomAD v4 |
| 5 | g.173234724G>A | CA2676543006 | NKX2-5 | c.334+26C>T (n.334+26C>T) | gnomAD v4 |
| 5 | g.173234724G>T | CA2676543007 | NKX2-5 | c.334+26C>A (n.334+26C>A) | gnomAD v4 |
| 5 | g.173234726A>G | CA2676543008 | NKX2-5 | c.334+24T>C (n.334+24T>C) | gnomAD v4 |
| 5 | g.173234726A>T | CA2676543009 | NKX2-5 | c.334+24T>A (n.334+24T>A) | gnomAD v4 |
| 5 | g.173234727G>A | CA564904273 | NKX2-5 | c.334+23C>T (n.334+23C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234727G= | CA1601616950 | NKX2-5 | c.334+23C= (n.334+23C=) | |
| 5 | g.173234727G>T | CA2676543011 | NKX2-5 | c.334+23C>A (n.334+23C>A) | gnomAD v4 |
| 5 | g.173234731del | CA2676543010 | NKX2-5 | c.334+23del (n.334+23del) | gnomAD v4 |
| 5 | g.173234729_173234731del | CA2578487512 | NKX2-5 | c.334+21_334+23del (n.334+21_334+23del) | |
| 5 | g.173234728G>A | CA564904274 | NKX2-5 | c.334+22C>T (n.334+22C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234728G= | CA1601616951 | NKX2-5 | c.334+22C= (n.334+22C=) | |
| 5 | g.173234728G>T | CA2676543012 | NKX2-5 | c.334+22C>A (n.334+22C>A) | gnomAD v4 |
| 5 | g.173234729G>A | CA2676543014 | NKX2-5 | c.334+21C>T (n.334+21C>T) | gnomAD v4 |
| 5 | g.173234729G>T | CA2676543013 | NKX2-5 | c.334+21C>A (n.334+21C>A) | gnomAD v4 |
| 5 | g.173234730G>A | CA2676543015 | NKX2-5 | c.334+20C>T (n.334+20C>T) | gnomAD v4 |
| 5 | g.173234731G>A | CA3563801 | NKX2-5 | c.334+19C>T (n.334+19C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234731G>C | CA2676543016 | NKX2-5 | c.334+19C>G (n.334+19C>G) | gnomAD v4 |
| 5 | g.173234731G= | CA1601616952 | NKX2-5 | c.334+19C= (n.334+19C=) | |
| 5 | g.173234731G>T | CA2676543017 | NKX2-5 | c.334+19C>A (n.334+19C>A) | gnomAD v4 |
| 5 | g.173234732C>A | CA2676543018 | NKX2-5 | c.334+18G>T (n.334+18G>T) | gnomAD v4 |
| 5 | g.173234732C= | CA1601616953 | NKX2-5 | c.334+18G= (n.334+18G=) | |
| 5 | g.173234732C>T | CA1601616954 | NKX2-5 | c.334+18G>A (n.334+18G>A) | dbSNP gnomAD v4 |
| 5 | g.173234733C>A | CA2676543019 | NKX2-5 | c.334+17G>T (n.334+17G>T) | gnomAD v4 |
| 5 | g.173234733C>T | CA2676543020 | NKX2-5 | c.334+17G>A (n.334+17G>A) | gnomAD v4 |
| 5 | g.173234734T>A | CA2676543021 | NKX2-5 | c.334+16A>T (n.334+16A>T) | gnomAD v4 |
| 5 | g.173234734T>C | CA2676543022 | NKX2-5 | c.334+16A>G (n.334+16A>G) | gnomAD v4 |
| 5 | g.173234735G>A | CA564904275 | NKX2-5 | c.334+15C>T (n.334+15C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234735G= | CA1601616955 | NKX2-5 | c.334+15C= (n.334+15C=) | |
| 5 | g.173234735G>T | CA1601616956 | NKX2-5 | c.334+15C>A (n.334+15C>A) | dbSNP |
| 5 | g.173234736T>C | CA2676543023 | NKX2-5 | c.334+14A>G (n.334+14A>G) | gnomAD v4 |
| 5 | g.173234737G>A | CA3563802 | NKX2-5 | c.334+13C>T (n.334+13C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234737G>C | CA2676543025 | NKX2-5 | c.334+13C>G (n.334+13C>G) | gnomAD v4 |
| 5 | g.173234737G= | CA1601616957 | NKX2-5 | c.334+13C= (n.334+13C=) | |
| 5 | g.173234737G>T | CA2676543024 | NKX2-5 | c.334+13C>A (n.334+13C>A) | gnomAD v4 |
| 5 | g.173234738T>C | CA2676543026 | NKX2-5 | c.334+12A>G (n.334+12A>G) | gnomAD v4 |
| 5 | g.173234740T>C | CA2676543027 | NKX2-5 | c.334+10A>G (n.334+10A>G) | gnomAD v4 |
| 5 | g.173234745_173234747del | CA2676543028 | NKX2-5 | c.334+8_334+10del (n.334+8_334+10del) | gnomAD v4 |
| 5 | g.173234741C>A | CA3563803 | NKX2-5 | c.334+9G>T (n.334+9G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234741C= | CA1601616958 | NKX2-5 | c.334+9G= (n.334+9G=) | |
| 5 | g.173234741C>T | CA3563804 | NKX2-5 | c.334+9G>A (n.334+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234742C>A | CA2676543029 | NKX2-5 | c.334+8G>T (n.334+8G>T) | gnomAD v4 |
| 5 | g.173234742C>T | CA2676543030 | NKX2-5 | c.334+8G>A (n.334+8G>A) | gnomAD v4 |
| 5 | g.173234743T>C | CA2676543031 | NKX2-5 | c.334+7A>G (n.334+7A>G) | gnomAD v4 |
| 5 | g.173234744C>A | CA2676543032 | NKX2-5 | c.334+6G>T (n.334+6G>T) | gnomAD v4 |
| 5 | g.173234744C= | CA1601616959 | NKX2-5 | c.334+6G= (n.334+6G=) | |
| 5 | g.173234744C>G | CA807697095 | NKX2-5 | c.334+6G>C (n.334+6G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234744C>T | CA1601616960 | NKX2-5 | c.334+6G>A (n.334+6G>A) | dbSNP |
| 5 | g.173234745C>A | CA2676543033 | NKX2-5 | c.334+5G>T (n.334+5G>T) | gnomAD v4 |
| 5 | g.173234745C>T | CA2676543034 | NKX2-5 | c.334+5G>A (n.334+5G>A) | gnomAD v4 |
| 5 | g.173234746T>C | CA2676543035 | NKX2-5 | c.334+4A>G (n.334+4A>G) | gnomAD v4 |
| 5 | g.173234746T>G | CA2578487513 | NKX2-5 | c.334+4A>C (n.334+4A>C) | |
| 5 | g.173234747C>A | CA2676543036 | NKX2-5 | c.334+3G>T (n.334+3G>T) | gnomAD v4 |
| 5 | g.173234747C>T | CA2580074048 | NKX2-5 | c.334+3G>A (n.334+3G>A) | ClinVar gnomAD v4 |
| 5 | g.173234748A>C | CA362163127 | NKX2-5 | c.334+2T>G (n.334+2T>G) | |
| 5 | g.173234748A>G | CA362163128 | NKX2-5 | c.334+2T>C (n.334+2T>C) | |
| 5 | g.173234748A>T | CA362163130 | NKX2-5 | c.334+2T>A (n.334+2T>A) | |
| 5 | g.173234748_173235311delinsACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGAACATGGTGGCAGCGCCAGTCTCACAGCGCCAGGTGGGCGGCAGAAAGCGGCGCTGCCCACGGCCCCTGGCAGCTTCCCTGCATGGTGCCGCCGCCCGCCCGCGCACCCGTCGGCCAGCTCTGGATGTGTCCGGGCAGCAGGTAGCGCTGAGCACAAGGGGCAGGAGAGGCGGGACCAGGCCAGAGGAGGGGGACTCAGCCTGCCATTGGGCCAGGGGCCTCGATGACAGGAG | CA1601616961 | NKX2-5 | c.-228_334+2delinsCTCCTGTCATCGAGGCCCCTGGCCCAATGGCAGGCTGAGTCCCCCTCCTCTGGCCTGGTCCCGCCTCTCCTGCCCCTTGTGCTCAGCGCTACCTGCTGCCCGGACACATCCAGAGCTGGCCGACGGGTGCGCGGGCGGGCGGCGGCACCATGCAGGGAAGCTGCCAGGGGCCGTGGGCAGCGCCGCTTTCTGCCGCCCACCTGGCGCTGTGAGACTGGCGCTGCCACCATGTTCCCCAGCCCTGCTCTCACGCCCACGCCCTTCTCAGTCAAAGACATCCTAAACCTGGAACAGCAGCAGCGCAGCCTGGCTGCCGCCGGAGAGCTCTCTGCCCGCCTGGAGGCGACCCTGGCGCCCTCCTCCTGCATGCTGGCCGCCTTCAAGCCAGAGGCCTACGCTGGGCCCGAGGCGGCTGCGCCGGGCCTCCCAGAGCTGCGCGCAGAGCTGGGCCGCGCGCCTTCACCGGCCAAGTGTGCGTCTGCCTTTCCCGCCGCCCCCGCCTTCTATCCACGTGCCTACAGCGACCCCGACCCAGCCAAGGACCCTAGAGCCGAAAAGAAAGGT | |
| 5 | g.173234749C>A | CA10581148 | NKX2-5 | c.334+1G>T (n.334+1G>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.173234749C= | CA1601616962 | NKX2-5 | c.334+1G= (n.334+1G=) | |
| 5 | g.173234749C>G | CA362163134 | NKX2-5 | c.334+1G>C (n.334+1G>C) | |
| 5 | g.173234749C>T | CA362163133 | NKX2-5 | c.334+1G>A (n.334+1G>A) | |
| 5 | g.173234750_173235312del | CA915942752 | NKX2-5 | c.-228_334+1del | ClinVar dbSNP |
| 5 | g.173234750C>A | CA362163135 | NKX2-5 | c.334G>T (p.Glu112Ter) c.334G>T (p.Ala112Ser) c.334G>T (p.Gly112Trp) | gnomAD v4 |
| 5 | g.173234750C>G | CA362163137 | NKX2-5 | c.334G>C (p.Glu112Gln) c.334G>C (p.Ala112Pro) c.334G>C (p.Gly112Arg) | |
| 5 | g.173234750C>T | CA362163139 | NKX2-5 | c.334G>A (p.Glu112Lys) c.334G>A (p.Ala112Thr) c.334G>A (p.Gly112Arg) | |
| 5 | g.173234751T>A | CA362163140 | NKX2-5 | c.333A>T (p.Lys111Asn) | |
| 5 | g.173234751T>C | CA447975114 | NKX2-5 | c.333A>G (p.Lys111=) | gnomAD v4 |
| 5 | g.173234751T>G | CA362163142 | NKX2-5 | c.333A>C (p.Lys111Asn) | gnomAD v4 |
| 5 | g.173234753del | CA2676543037 | NKX2-5 | c.333del (p.Glu112SerfsTer?) c.333del (p.Ala112ProfsTer?) c.333del (p.Ala112HisfsTer?) c.333del (p.Cys113ValfsTer17) | gnomAD v4 |
| 5 | g.173234752T>A | CA362163144 | NKX2-5 | c.332A>T (p.Lys111Ile) | |
| 5 | g.173234752T>C | CA362163146 | NKX2-5 | c.332A>G (p.Lys111Arg) | gnomAD v4 |
| 5 | g.173234752T>G | CA362163148 | NKX2-5 | c.332A>C (p.Lys111Thr) | |
| 5 | g.173234753T>A | CA362163159 | NKX2-5 | c.331A>T (p.Lys111Ter) | |
| 5 | g.173234753T>C | CA362163161 | NKX2-5 | c.331A>G (p.Lys111Glu) | |
| 5 | g.173234753T>G | CA362163174 | NKX2-5 | c.331A>C (p.Lys111Gln) | |
| 5 | g.173234754C>A | CA362163176 | NKX2-5 | c.330G>T (p.Lys110Asn) | gnomAD v4 COSMIC |
| 5 | g.173234754C>G | CA362163177 | NKX2-5 | c.330G>C (p.Lys110Asn) | |
| 5 | g.173234754C>T | CA447975125 | NKX2-5 | c.330G>A (p.Lys110=) | |
| 5 | g.173234755T>A | CA362163179 | NKX2-5 | c.329A>T (p.Lys110Met) | |
| 5 | g.173234755T>C | CA362163180 | NKX2-5 | c.329A>G (p.Lys110Arg) | |
| 5 | g.173234755T>G | CA362163181 | NKX2-5 | c.329A>C (p.Lys110Thr) | |
| 5 | g.173234756T>A | CA362163183 | NKX2-5 | c.328A>T (p.Lys110Ter) | ClinVar |
| 5 | g.173234756T>C | CA362163185 | NKX2-5 | c.328A>G (p.Lys110Glu) | gnomAD v4 |
| 5 | g.173234756T>G | CA362163187 | NKX2-5 | c.328A>C (p.Lys110Gln) | |
| 5 | g.173234757T>A | CA362163188 | NKX2-5 | c.327A>T (p.Glu109Asp) | |
| 5 | g.173234757T>C | CA447975131 | NKX2-5 | c.327A>G (p.Glu109=) | gnomAD v4 |
| 5 | g.173234757T>G | CA362163190 | NKX2-5 | c.327A>C (p.Glu109Asp) | |
| 5 | g.173234758T>A | CA362163192 | NKX2-5 | c.326A>T (p.Glu109Val) | |
| 5 | g.173234758T>C | CA362163193 | NKX2-5 | c.326A>G (p.Glu109Gly) | |
| 5 | g.173234758T>G | CA362163195 | NKX2-5 | c.326A>C (p.Glu109Ala) | gnomAD v4 |
| 5 | g.173234759C>A | CA362163202 | NKX2-5 | c.325G>T (p.Glu109Ter) | gnomAD v4 |
| 5 | g.173234759C= | CA1601616963 | NKX2-5 | c.325G= (p.Glu109=) | |
| 5 | g.173234759C>G | CA362163204 | NKX2-5 | c.325G>C (p.Glu109Gln) | gnomAD v4 |
| 5 | g.173234759C>T | CA362163206 | NKX2-5 | c.325G>A (p.Glu109Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234760G>A | CA3563805 | NKX2-5 | c.324C>T (p.Ala108=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234760G>C | CA447975139 | NKX2-5 | c.324C>G (p.Ala108=) | dbSNP |
| 5 | g.173234760G= | CA1601616964 | NKX2-5 | c.324C= (p.Ala108=) | |
| 5 | g.173234760G>T | CA447975141 | NKX2-5 | c.324C>A (p.Ala108=) | |
| 5 | g.173234761G>A | CA362163209 | NKX2-5 | c.323C>T (p.Ala108Val) | ClinVar dbSNP gnomAD v4 |
| 5 | g.173234761G>C | CA362163211 | NKX2-5 | c.323C>G (p.Ala108Gly) | |
| 5 | g.173234761G= | CA1601616965 | NKX2-5 | c.323C= (p.Ala108=) | |
| 5 | g.173234761G>T | CA362163213 | NKX2-5 | c.323C>A (p.Ala108Asp) | gnomAD v4 |
| 5 | g.173234762C>A | CA362163215 | NKX2-5 | c.322G>T (p.Ala108Ser) | gnomAD v4 |
| 5 | g.173234762C= | CA1601616966 | NKX2-5 | c.322G= (p.Ala108=) | |
| 5 | g.173234762C>G | CA362163217 | NKX2-5 | c.322G>C (p.Ala108Pro) | |
| 5 | g.173234762C>T | CA3563806 | NKX2-5 | c.322G>A (p.Ala108Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.173234763T>A | CA362163219 | NKX2-5 | c.321A>T (p.Arg107Ser) | |
| 5 | g.173234763T>C | CA447975149 | NKX2-5 | c.321A>G (p.Arg107=) | dbSNP |
| 5 | g.173234763T>G | CA3563807 | NKX2-5 | c.321A>C (p.Arg107Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.173234763T= | CA1601616967 | NKX2-5 | c.321A= (p.Arg107=) | |
| 5 | g.173234763_173234770del | CA2697546578 | NKX2-5 | c.314_321del (p.Asp105GlyfsTer?) c.314_321del (p.Asp105GlyfsTer9) c.314_321del (p.Asp105GlyfsTer22) c.314_321del (p.Asp105GlyfsTer7) | ClinVar |
| 5 | g.173234764C>A | CA362163223 | NKX2-5 | c.320G>T (p.Arg107Ile) | gnomAD v4 |
| 5 | g.173234764C>G | CA362163225 | NKX2-5 | c.320G>C (p.Arg107Thr) | |
| 5 | g.173234764C>T | CA362163226 | NKX2-5 | c.320G>A (p.Arg107Lys) | |
| 5 | g.173234765T>A | CA362163228 | NKX2-5 | c.319A>T (p.Arg107Ter) | |
| 5 | g.173234765T>C | CA362163238 | NKX2-5 | c.319A>G (p.Arg107Gly) | |
| 5 | g.173234765T>G | CA447975151 | NKX2-5 | c.319A>C (p.Arg107=) | |
| 5 | g.173234766A= | CA1601616968 | NKX2-5 | c.318T= (p.Pro106=) | |
| 5 | g.173234766A>C | CA447975152 | NKX2-5 | c.318T>G (p.Pro106=) | |
| 5 | g.173234766A>G | CA447975153 | NKX2-5 | c.318T>C (p.Pro106=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234766A>T | CA447975156 | NKX2-5 | c.318T>A (p.Pro106=) | |
| 5 | g.173234767G>A | CA362163243 | NKX2-5 | c.317C>T (p.Pro106Leu) | |
| 5 | g.173234767G>C | CA362163241 | NKX2-5 | c.317C>G (p.Pro106Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234767G= | CA1601616969 | NKX2-5 | c.317C= (p.Pro106=) | |
| 5 | g.173234767G>T | CA362163240 | NKX2-5 | c.317C>A (p.Pro106His) | |
| 5 | g.173234768G>A | CA362163246 | NKX2-5 | c.316C>T (p.Pro106Ser) | dbSNP gnomAD v4 |
| 5 | g.173234768G>C | CA362163245 | NKX2-5 | c.316C>G (p.Pro106Ala) | |
| 5 | g.173234768G= | CA1601616970 | NKX2-5 | c.316C= (p.Pro106=) | |
| 5 | g.173234768G>T | CA362163247 | NKX2-5 | c.316C>A (p.Pro106Thr) | gnomAD v4 |
| 5 | g.173234769G>A | CA447975165 | NKX2-5 | c.315C>T (p.Asp105=) | ClinVar gnomAD v4 |
| 5 | g.173234769G>C | CA362163249 | NKX2-5 | c.315C>G (p.Asp105Glu) | |
| 5 | g.173234769G>T | CA362163250 | NKX2-5 | c.315C>A (p.Asp105Glu) | |
| 5 | g.173234770T>A | CA362163252 | NKX2-5 | c.314A>T (p.Asp105Val) | |
| 5 | g.173234770T>C | CA362163254 | NKX2-5 | c.314A>G (p.Asp105Gly) | |
| 5 | g.173234770T>G | CA362163260 | NKX2-5 | c.314A>C (p.Asp105Ala) | |
| 5 | g.173234771C>A | CA362163261 | NKX2-5 | c.313G>T (p.Asp105Tyr) | gnomAD v4 |
| 5 | g.173234771C>G | CA362163262 | NKX2-5 | c.313G>C (p.Asp105His) | |
| 5 | g.173234771C>T | CA362163263 | NKX2-5 | c.313G>A (p.Asp105Asn) | gnomAD v4 |
| 5 | g.173234772del | CA2695205821 | NKX2-5 | c.313del (p.Asp105ThrfsTer?) c.313del (p.Asp105ThrfsTer25) | |
| 5 | g.173234772C>A | CA362163264 | NKX2-5 | c.312G>T (p.Lys104Asn) | gnomAD v4 |
| 5 | g.173234772C= | CA1601616971 | NKX2-5 | c.312G= (p.Lys104=) | |
| 5 | g.173234772C>G | CA3563808 | NKX2-5 | c.312G>C (p.Lys104Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234772C>T | CA447975177 | NKX2-5 | c.312G>A (p.Lys104=) | |
| 5 | g.173234773T>A | CA362163265 | NKX2-5 | c.311A>T (p.Lys104Met) | |
| 5 | g.173234773T>C | CA362163266 | NKX2-5 | c.311A>G (p.Lys104Arg) | gnomAD v4 |
| 5 | g.173234773T>G | CA362163267 | NKX2-5 | c.311A>C (p.Lys104Thr) | |
| 5 | g.173234774T>A | CA362163270 | NKX2-5 | c.310A>T (p.Lys104Ter) | ClinVar dbSNP |
| 5 | g.173234774T>C | CA362163268 | NKX2-5 | c.310A>G (p.Lys104Glu) | |
| 5 | g.173234774T>G | CA362163269 | NKX2-5 | c.310A>C (p.Lys104Gln) | |
| 5 | g.173234774T= | CA1601616972 | NKX2-5 | c.310A= (p.Lys104=) | |
| 5 | g.173234775G>A | CA3563809 | NKX2-5 | c.309C>T (p.Ala103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234775G>C | CA447975182 | NKX2-5 | c.309C>G (p.Ala103=) | |
| 5 | g.173234775G= | CA1601616973 | NKX2-5 | c.309C= (p.Ala103=) | |
| 5 | g.173234775G>T | CA447975180 | NKX2-5 | c.309C>A (p.Ala103=) | gnomAD v4 |
| 5 | g.173234776G>A | CA362163271 | NKX2-5 | c.308C>T (p.Ala103Val) | gnomAD v4 |
| 5 | g.173234776G>C | CA362163272 | NKX2-5 | c.308C>G (p.Ala103Gly) | |
| 5 | g.173234776G>T | CA362163273 | NKX2-5 | c.308C>A (p.Ala103Asp) | |
| 5 | g.173234777C>A | CA362163274 | NKX2-5 | c.307G>T (p.Ala103Ser) | gnomAD v4 |
| 5 | g.173234777C>G | CA362163275 | NKX2-5 | c.307G>C (p.Ala103Pro) | |
| 5 | g.173234777C>T | CA362163276 | NKX2-5 | c.307G>A (p.Ala103Thr) | gnomAD v4 |
| 5 | g.173234778T>A | CA447975187 | NKX2-5 | c.306A>T (p.Pro102=) | |
| 5 | g.173234778T>C | CA447975189 | NKX2-5 | c.306A>G (p.Pro102=) | gnomAD v4 |
| 5 | g.173234778T>G | CA447975190 | NKX2-5 | c.306A>C (p.Pro102=) | |
| 5 | g.173234778_173234784delinsTGGGTCG | CA1601616974 | NKX2-5 | c.300_306delinsCGACCCA (p.Pro100=) | |
| 5 | g.173234779G>A | CA362163277 | NKX2-5 | c.305C>T (p.Pro102Leu) | |
| 5 | g.173234779G>C | CA362163278 | NKX2-5 | c.305C>G (p.Pro102Arg) | |
| 5 | g.173234779G= | CA1601616975 | NKX2-5 | c.305C= (p.Pro102=) | |
| 5 | g.173234779G>T | CA362163279 | NKX2-5 | c.305C>A (p.Pro102Gln) | dbSNP gnomAD v4 |
| 5 | g.173234781del | CA2676543044 | NKX2-5 | c.305del (p.Pro102GlnfsTer?) c.305del (p.Pro102GlnfsTer28) | gnomAD v4 |
| 5 | g.173234785_173234790del | CA3563810 | NKX2-5 | c.300_305del (p.Asp101_Pro102del) | dbSNP ExAC gnomAD v2 |
| 5 | g.173234780G>A | CA362163282 | NKX2-5 | c.304C>T (p.Pro102Ser) | gnomAD v4 |
| 5 | g.173234780G>C | CA362163281 | NKX2-5 | c.304C>G (p.Pro102Ala) | |
| 5 | g.173234780G>T | CA362163280 | NKX2-5 | c.304C>A (p.Pro102Thr) | gnomAD v4 |
| 5 | g.173234781G>A | CA447975196 | NKX2-5 | c.303C>T (p.Asp101=) | |
| 5 | g.173234781G>C | CA362163283 | NKX2-5 | c.303C>G (p.Asp101Glu) | |
| 5 | g.173234781G>T | CA362163284 | NKX2-5 | c.303C>A (p.Asp101Glu) | gnomAD v4 |
| 5 | g.173234782T>A | CA362163285 | NKX2-5 | c.302A>T (p.Asp101Val) | ClinVar |
| 5 | g.173234782T>C | CA362163286 | NKX2-5 | c.302A>G (p.Asp101Gly) | ClinVar gnomAD v4 COSMIC |
| 5 | g.173234782T>G | CA362163287 | NKX2-5 | c.302A>C (p.Asp101Ala) | |
| 5 | g.173234783C>A | CA362163288 | NKX2-5 | c.301G>T (p.Asp101Tyr) | dbSNP gnomAD v4 |
| 5 | g.173234783C= | CA1601616976 | NKX2-5 | c.301G= (p.Asp101=) | |
| 5 | g.173234783C>G | CA362163289 | NKX2-5 | c.301G>C (p.Asp101His) | |
| 5 | g.173234783C>T | CA362163290 | NKX2-5 | c.301G>A (p.Asp101Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234784G>A | CA447975198 | NKX2-5 | c.300C>T (p.Pro100=) | gnomAD v4 |
| 5 | g.173234784G>C | CA447975197 | NKX2-5 | c.300C>G (p.Pro100=) | ClinVar dbSNP |
| 5 | g.173234784G= | CA1601616977 | NKX2-5 | c.300C= (p.Pro100=) | |
| 5 | g.173234784G>T | CA3563811 | NKX2-5 | c.300C>A (p.Pro100=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234787del | CA2676543070 | NKX2-5 | c.300del (p.Asp101ThrfsTer?) c.300del (p.Asp101ThrfsTer29) | gnomAD v4 |
| 5 | g.173234785G>A | CA362163291 | NKX2-5 | c.299C>T (p.Pro100Leu) | ClinVar gnomAD v4 |
| 5 | g.173234785G>C | CA362163292 | NKX2-5 | c.299C>G (p.Pro100Arg) | |
| 5 | g.173234785G>T | CA362163293 | NKX2-5 | c.299C>A (p.Pro100His) | gnomAD v4 |
| 5 | g.173234786G>A | CA362163294 | NKX2-5 | c.298C>T (p.Pro100Ser) | gnomAD v4 |
| 5 | g.173234786G>C | CA3563812 | NKX2-5 | c.298C>G (p.Pro100Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234786G= | CA1601616978 | NKX2-5 | c.298C= (p.Pro100=) | |
| 5 | g.173234786G>T | CA132260336 | NKX2-5 | c.298C>A (p.Pro100Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234787G>A | CA447975205 | NKX2-5 | c.297C>T (p.Asp99=) | gnomAD v4 |
| 5 | g.173234787G>C | CA362163295 | NKX2-5 | c.297C>G (p.Asp99Glu) | |
| 5 | g.173234787G>T | CA362163296 | NKX2-5 | c.297C>A (p.Asp99Glu) | gnomAD v4 |
| 5 | g.173234788T>A | CA362163297 | NKX2-5 | c.296A>T (p.Asp99Val) | |
| 5 | g.173234788T>C | CA362163298 | NKX2-5 | c.296A>G (p.Asp99Gly) | |
| 5 | g.173234788T>G | CA362163299 | NKX2-5 | c.296A>C (p.Asp99Ala) |