Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.36684529G>A | CA3780407 | CDKN1A | c.428G>A (p.Arg143Gln) c.530G>A (p.Arg177Gln) c.467G>A (p.Arg156Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684529G>C | CA363834675 | CDKN1A | c.428G>C (p.Arg143Pro) c.530G>C (p.Arg177Pro) c.467G>C (p.Arg156Pro) | |
6 | g.36684529G= | CA1621457077 | CDKN1A | c.428G= (p.Arg143=) c.530G= (p.Arg177=) c.467G= (p.Arg156=) | |
6 | g.36684529G>T | CA363834676 | CDKN1A | c.428G>T (p.Arg143Leu) c.530G>T (p.Arg177Leu) c.467G>T (p.Arg156Leu) | |
6 | g.36684530G>A | CA450129192 | CDKN1A | c.429G>A (p.Arg143=) c.531G>A (p.Arg177=) c.468G>A (p.Arg156=) | dbSNP |
6 | g.36684530G>C | CA450129193 | CDKN1A | c.429G>C (p.Arg143=) c.531G>C (p.Arg177=) c.468G>C (p.Arg156=) | |
6 | g.36684530G>T | CA450129194 | CDKN1A | c.429G>T (p.Arg143=) c.531G>T (p.Arg177=) c.468G>T (p.Arg156=) | gnomAD v4 |
6 | g.36684531C>A | CA363834677 | CDKN1A | c.430C>A (p.Gln144Lys) c.532C>A (p.Gln178Lys) c.469C>A (p.Gln157Lys) | |
6 | g.36684531C= | CA1621457078 | CDKN1A | c.430C= (p.Gln144=) c.532C= (p.Gln178=) c.469C= (p.Gln157=) | |
6 | g.36684531C>G | CA363834678 | CDKN1A | c.430C>G (p.Gln144Glu) c.532C>G (p.Gln178Glu) c.469C>G (p.Gln157Glu) | dbSNP |
6 | g.36684531C>T | CA363834679 | CDKN1A | c.430C>T (p.Gln144Ter) c.532C>T (p.Gln178Ter) c.469C>T (p.Gln157Ter) | dbSNP |
6 | g.36684531dup | CA2840993099 | CDKN1A | c.430dup (p.Gln144ProfsTer?) c.532dup (p.Gln178ProfsTer?) c.469dup (p.Gln157ProfsTer?) c.430dup (p.Gln144ProfsTer16) | |
6 | g.36684532A>C | CA363834680 | CDKN1A | c.431A>C (p.Gln144Pro) c.533A>C (p.Gln178Pro) c.470A>C (p.Gln157Pro) | |
6 | g.36684532A>G | CA363834682 | CDKN1A | c.431A>G (p.Gln144Arg) c.533A>G (p.Gln178Arg) c.470A>G (p.Gln157Arg) | |
6 | g.36684532A>T | CA363834681 | CDKN1A | c.431A>T (p.Gln144Leu) c.533A>T (p.Gln178Leu) c.470A>T (p.Gln157Leu) | |
6 | g.36684533G>A | CA450129195 | CDKN1A | c.432G>A (p.Gln144=) c.534G>A (p.Gln178=) c.471G>A (p.Gln157=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.36684533G>C | CA363834683 | CDKN1A | c.432G>C (p.Gln144His) c.534G>C (p.Gln178His) c.471G>C (p.Gln157His) | |
6 | g.36684533G= | CA1621457079 | CDKN1A | c.432G= (p.Gln144=) c.534G= (p.Gln178=) c.471G= (p.Gln157=) | |
6 | g.36684533G>T | CA3780408 | CDKN1A | c.432G>T (p.Gln144His) c.534G>T (p.Gln178His) c.471G>T (p.Gln157His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.36684534A>C | CA363834684 | CDKN1A | c.433A>C (p.Thr145Pro) c.535A>C (p.Thr179Pro) c.472A>C (p.Thr158Pro) | |
6 | g.36684534A>G | CA363834686 | CDKN1A | c.433A>G (p.Thr145Ala) c.535A>G (p.Thr179Ala) c.472A>G (p.Thr158Ala) | |
6 | g.36684534A>T | CA363834685 | CDKN1A | c.433A>T (p.Thr145Ser) c.535A>T (p.Thr179Ser) c.472A>T (p.Thr158Ser) | |
6 | g.36684535C>A | CA363834687 | CDKN1A | c.434C>A (p.Thr145Asn) c.536C>A (p.Thr179Asn) c.473C>A (p.Thr158Asn) | |
6 | g.36684535C>G | CA363834688 | CDKN1A | c.434C>G (p.Thr145Ser) c.536C>G (p.Thr179Ser) c.473C>G (p.Thr158Ser) | dbSNP |
6 | g.36684535C>T | CA363834689 | CDKN1A | c.434C>T (p.Thr145Ile) c.536C>T (p.Thr179Ile) c.473C>T (p.Thr158Ile) | dbSNP |
6 | g.36684536dup | CA2838213504 | CDKN1A | c.435dup (p.Ser146GlnfsTer?) c.537dup (p.Ser180GlnfsTer?) c.474dup (p.Ser159GlnfsTer?) c.435dup (p.Ser146GlnfsTer14) | |
6 | g.36684536del | CA2839932644 | CDKN1A | c.435del (p.Ser146AlafsTer2) c.537del (p.Ser180AlafsTer2) c.474del (p.Ser159AlafsTer2) | |
6 | g.36684536C>A | CA450129197 | CDKN1A | c.435C>A (p.Thr145=) c.537C>A (p.Thr179=) c.474C>A (p.Thr158=) | |
6 | g.36684536C>G | CA450129198 | CDKN1A | c.435C>G (p.Thr145=) c.537C>G (p.Thr179=) c.474C>G (p.Thr158=) | |
6 | g.36684536C>T | CA450129200 | CDKN1A | c.435C>T (p.Thr145=) c.537C>T (p.Thr179=) c.474C>T (p.Thr158=) | gnomAD v4 |
6 | g.36684537A>C | CA363834690 | CDKN1A | c.436A>C (p.Ser146Arg) c.538A>C (p.Ser180Arg) c.475A>C (p.Ser159Arg) | |
6 | g.36684537A>G | CA363834691 | CDKN1A | c.436A>G (p.Ser146Gly) c.538A>G (p.Ser180Gly) c.475A>G (p.Ser159Gly) | |
6 | g.36684537A>T | CA363834692 | CDKN1A | c.436A>T (p.Ser146Cys) c.538A>T (p.Ser180Cys) c.475A>T (p.Ser159Cys) | |
6 | g.36684538G>A | CA363834693 | CDKN1A | c.437G>A (p.Ser146Asn) c.539G>A (p.Ser180Asn) c.476G>A (p.Ser159Asn) | dbSNP |
6 | g.36684538G>C | CA363834694 | CDKN1A | c.437G>C (p.Ser146Thr) c.539G>C (p.Ser180Thr) c.476G>C (p.Ser159Thr) | |
6 | g.36684538G>T | CA363834695 | CDKN1A | c.437G>T (p.Ser146Ile) c.539G>T (p.Ser180Ile) c.476G>T (p.Ser159Ile) | |
6 | g.36684539C>A | CA363834696 | CDKN1A | c.438C>A (p.Ser146Arg) c.540C>A (p.Ser180Arg) c.477C>A (p.Ser159Arg) | |
6 | g.36684539C= | CA1621457080 | CDKN1A | c.438C= (p.Ser146=) c.540C= (p.Ser180=) c.477C= (p.Ser159=) | |
6 | g.36684539C>G | CA363834697 | CDKN1A | c.438C>G (p.Ser146Arg) c.540C>G (p.Ser180Arg) c.477C>G (p.Ser159Arg) | |
6 | g.36684539C>T | CA3780409 | CDKN1A | c.438C>T (p.Ser146=) c.540C>T (p.Ser180=) c.477C>T (p.Ser159=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684540A= | CA1621457081 | CDKN1A | c.439A= (p.Met147=) c.541A= (p.Met181=) c.478A= (p.Met160=) | |
6 | g.36684540A>C | CA3780411 | CDKN1A | c.439A>C (p.Met147Leu) c.541A>C (p.Met181Leu) c.478A>C (p.Met160Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.36684540A>G | CA3780410 | CDKN1A | c.439A>G (p.Met147Val) c.541A>G (p.Met181Val) c.478A>G (p.Met160Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684540A>T | CA363834698 | CDKN1A | c.439A>T (p.Met147Leu) c.541A>T (p.Met181Leu) c.478A>T (p.Met160Leu) | |
6 | g.36684540dup | CA2840993100 | CDKN1A | c.439dup (p.Met147AsnfsTer?) c.541dup (p.Met181AsnfsTer?) c.478dup (p.Met160AsnfsTer?) c.439dup (p.Met147AsnfsTer13) | |
6 | g.36684541T>A | CA363834699 | CDKN1A | c.440T>A (p.Met147Lys) c.542T>A (p.Met181Lys) c.479T>A (p.Met160Lys) | |
6 | g.36684541T>C | CA363834700 | CDKN1A | c.440T>C (p.Met147Thr) c.542T>C (p.Met181Thr) c.479T>C (p.Met160Thr) | |
6 | g.36684541T>G | CA363834701 | CDKN1A | c.440T>G (p.Met147Arg) c.542T>G (p.Met181Arg) c.479T>G (p.Met160Arg) | |
6 | g.36684541T= | CA1621457082 | CDKN1A | c.440T= (p.Met147=) c.542T= (p.Met181=) c.479T= (p.Met160=) | |
6 | g.36684541dup | CA2840993101 | CDKN1A | c.440dup (p.Met147IlefsTer?) c.542dup (p.Met181IlefsTer?) c.479dup (p.Met160IlefsTer?) c.440dup (p.Met147IlefsTer13) | |
6 | g.36684542G>A | CA363834702 | CDKN1A | c.441G>A (p.Met147Ile) c.543G>A (p.Met181Ile) c.480G>A (p.Met160Ile) | |
6 | g.36684542G>C | CA363834703 | CDKN1A | c.441G>C (p.Met147Ile) c.543G>C (p.Met181Ile) c.480G>C (p.Met160Ile) | |
6 | g.36684542G>T | CA363834704 | CDKN1A | c.441G>T (p.Met147Ile) c.543G>T (p.Met181Ile) c.480G>T (p.Met160Ile) | gnomAD v4 |
6 | g.36684546_36684555dup | CA3780412 | CDKN1A | c.445_445+9dup c.547_547+9dup c.484_484+9dup c.445_454dup (p.Met152ArgfsTer11) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684543A>C | CA363834705 | CDKN1A | c.442A>C (p.Thr148Pro) c.544A>C (p.Thr182Pro) c.481A>C (p.Thr161Pro) | |
6 | g.36684543A>G | CA363834706 | CDKN1A | c.442A>G (p.Thr148Ala) c.544A>G (p.Thr182Ala) c.481A>G (p.Thr161Ala) | |
6 | g.36684543A>T | CA363834707 | CDKN1A | c.442A>T (p.Thr148Ser) c.544A>T (p.Thr182Ser) c.481A>T (p.Thr161Ser) | |
6 | g.36684544C>A | CA363834709 | CDKN1A | c.443C>A (p.Thr148Lys) c.545C>A (p.Thr182Lys) c.482C>A (p.Thr161Lys) | |
6 | g.36684544C>G | CA363834710 | CDKN1A | c.443C>G (p.Thr148Arg) c.545C>G (p.Thr182Arg) c.482C>G (p.Thr161Arg) | |
6 | g.36684544C>T | CA363834708 | CDKN1A | c.443C>T (p.Thr148Ile) c.545C>T (p.Thr182Ile) c.482C>T (p.Thr161Ile) | |
6 | g.36684545A>C | CA450129204 | CDKN1A | c.444A>C (p.Thr148=) c.546A>C (p.Thr182=) c.483A>C (p.Thr161=) | |
6 | g.36684545A>G | CA450129205 | CDKN1A | c.444A>G (p.Thr148=) c.546A>G (p.Thr182=) c.483A>G (p.Thr161=) | |
6 | g.36684545A>T | CA450129206 | CDKN1A | c.444A>T (p.Thr148=) c.546A>T (p.Thr182=) c.483A>T (p.Thr161=) | |
6 | g.36684545_36684546del | CA2578600455 | CDKN1A | c.444_445del (p.Asp149PhefsTer?) c.546_547del (p.Asp183PhefsTer?) c.483_484del (p.Asp162PhefsTer?) c.444_445del (p.Gly149CysfsTer10) c.444_445del (p.Val149LeufsTer?) | gnomAD v4 |
6 | g.36684546G>A | CA363834711 | CDKN1A | c.445G>A (p.Asp149Asn) c.547G>A (p.Asp183Asn) c.484G>A (p.Asp162Asn) c.445G>A (p.Gly149Ser) c.445G>A (p.Val149Ile) | dbSNP |
6 | g.36684546G>C | CA363834712 | CDKN1A | c.445G>C (p.Asp149His) c.547G>C (p.Asp183His) c.484G>C (p.Asp162His) c.445G>C (p.Gly149Arg) c.445G>C (p.Val149Leu) | dbSNP COSMIC COSMIC |
6 | g.36684546G= | CA1621457083 | CDKN1A | c.445G= (p.Asp149=) c.547G= (p.Asp183=) c.484G= (p.Asp162=) c.445G= (p.Gly149=) c.445G= (p.Val149=) | |
6 | g.36684546G>T | CA363834713 | CDKN1A | c.445G>T (p.Asp149Tyr) c.547G>T (p.Asp183Tyr) c.484G>T (p.Asp162Tyr) c.445G>T (p.Gly149Cys) c.445G>T (p.Val149Phe) | |
6 | g.36684547_36684549del | CA2711444419 | CDKN1A | c.445+1_445+3del c.547+1_547+3del c.484+1_484+3del c.446_448del (p.Gly149del) | dbSNP |
6 | g.36684546_36684547insATTTCTACCACTCCAAACGCCGGCTGATCTTCTCCAA | CA2711444442 | CDKN1A | c.445_445+1insATTTCTACCACTCCAAACGCCGGCTGATCTTCTCCAA (n.445_445+1insATTTCTACCACTCCAAACGCCGGCTGATCTTCTCCAA) c.547_547+1insATTTCTACCACTCCAAACGCCGGCTGATCTTCTCCAA (n.547_547+1insATTTCTACCACTCCAAACGCCGGCTGATCTTCTCCAA) c.484_484+1insATTTCTACCACTCCAAACGCCGGCTGATCTTCTCCAA (n.484_484+1insATTTCTACCACTCCAAACGCCGGCTGATCTTCTCCAA) c.445_446insATTTCTACCACTCCAAACGCCGGCTGATCTTCTCCAA (p.Gly149AspfsTer23) | dbSNP |
6 | g.36684547G>A | CA363834714 | CDKN1A | c.445+1G>A (n.445+1G>A) c.547+1G>A (n.547+1G>A) c.484+1G>A (n.484+1G>A) c.446G>A (p.Gly149Asp) | dbSNP |
6 | g.36684547G>C | CA363834715 | CDKN1A | c.445+1G>C (n.445+1G>C) c.547+1G>C (n.547+1G>C) c.484+1G>C (n.484+1G>C) c.446G>C (p.Gly149Ala) | |
6 | g.36684547G>T | CA363834716 | CDKN1A | c.445+1G>T (n.445+1G>T) c.547+1G>T (n.547+1G>T) c.484+1G>T (n.484+1G>T) c.446G>T (p.Gly149Val) | |
6 | g.36684548T>A | CA363834717 | CDKN1A | c.445+2T>A (n.445+2T>A) c.547+2T>A (n.547+2T>A) c.484+2T>A (n.484+2T>A) c.447T>A (p.Gly149=) | |
6 | g.36684548T>C | CA363834718 | CDKN1A | c.445+2T>C (n.445+2T>C) c.547+2T>C (n.547+2T>C) c.484+2T>C (n.484+2T>C) c.447T>C (p.Gly149=) | |
6 | g.36684548T>G | CA363834719 | CDKN1A | c.445+2T>G (n.445+2T>G) c.547+2T>G (n.547+2T>G) c.484+2T>G (n.484+2T>G) c.447T>G (p.Gly149=) | dbSNP |
6 | g.36684548T= | CA1621457084 | CDKN1A | c.445+2T= (n.445+2T=) c.547+2T= (n.547+2T=) c.484+2T= (n.484+2T=) c.447T= (p.Gly149=) | |
6 | g.36684548_36684549insTTCTACCACTCCAAAC | CA2711444454 | CDKN1A | c.445+2_445+3insTTCTACCACTCCAAAC (n.445+2_445+3insTTCTACCACTCCAAAC) c.547+2_547+3insTTCTACCACTCCAAAC (n.547+2_547+3insTTCTACCACTCCAAAC) c.484+2_484+3insTTCTACCACTCCAAAC (n.484+2_484+3insTTCTACCACTCCAAAC) c.447_448insTTCTACCACTCCAAAC (p.Ala150PhefsTer15) | dbSNP |
6 | g.36684549G>A | CA3780413 | CDKN1A | c.445+3G>A (n.445+3G>A) c.547+3G>A (n.547+3G>A) c.484+3G>A (n.484+3G>A) c.448G>A (p.Ala150Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684549G= | CA1621457085 | CDKN1A | c.445+3G= (n.445+3G=) c.547+3G= (n.547+3G=) c.484+3G= (n.484+3G=) c.448G= (p.Ala150=) | |
6 | g.36684549G>T | CA2840993102 | CDKN1A | c.445+3G>T (n.445+3G>T) c.547+3G>T (n.547+3G>T) c.484+3G>T (n.484+3G>T) c.448G>T (p.Ala150Ser) | |
6 | g.36684550C>A | CA2711129926 | CDKN1A | c.445+4C>A (n.445+4C>A) c.547+4C>A (n.547+4C>A) c.484+4C>A (n.484+4C>A) c.449C>A (p.Ala150Glu) | dbSNP |
6 | g.36684550C= | CA1621457086 | CDKN1A | c.445+4C= (n.445+4C=) c.547+4C= (n.547+4C=) c.484+4C= (n.484+4C=) c.449C= (p.Ala150=) | |
6 | g.36684550C>G | CA3780415 | CDKN1A | c.445+4C>G (n.445+4C>G) c.547+4C>G (n.547+4C>G) c.484+4C>G (n.484+4C>G) c.449C>G (p.Ala150Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.36684550C>T | CA3780414 | CDKN1A | c.445+4C>T (n.445+4C>T) c.547+4C>T (n.547+4C>T) c.484+4C>T (n.484+4C>T) c.449C>T (p.Ala150Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.36684551G>A | CA3780416 | CDKN1A | c.445+5G>A (n.445+5G>A) c.547+5G>A (n.547+5G>A) c.484+5G>A (n.484+5G>A) c.450G>A (p.Ala150=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684551G>C | CA2711131457 | CDKN1A | c.445+5G>C (n.445+5G>C) c.547+5G>C (n.547+5G>C) c.484+5G>C (n.484+5G>C) c.450G>C (p.Ala150=) | dbSNP |
6 | g.36684551G= | CA1621457087 | CDKN1A | c.445+5G= (n.445+5G=) c.547+5G= (n.547+5G=) c.484+5G= (n.484+5G=) c.450G= (p.Ala150=) | |
6 | g.36684551G>T | CA2678467025 | CDKN1A | c.445+5G>T (n.445+5G>T) c.547+5G>T (n.547+5G>T) c.484+5G>T (n.484+5G>T) c.450G>T (p.Ala150=) | gnomAD v4 |
6 | g.36684551_36684555del | CA2578600456 | CDKN1A | c.445+5_445+9del (n.445+5_445+9del) c.547+5_547+9del (n.547+5_547+9del) c.484+5_484+9del (n.484+5_484+9del) c.450_454del (p.Asp151ValfsTer7) | gnomAD v4 |
6 | g.36684552G>T | CA2840993103 | CDKN1A | c.445+6G>T (n.445+6G>T) c.547+6G>T (n.547+6G>T) c.484+6G>T (n.484+6G>T) c.451G>T (p.Asp151Tyr) | |
6 | g.36684553A= | CA1621457088 | CDKN1A | c.445+7A= (n.445+7A=) c.547+7A= (n.547+7A=) c.484+7A= (n.484+7A=) c.452A= (p.Asp151=) | |
6 | g.36684553A>G | CA3780417 | CDKN1A | c.445+7A>G (n.445+7A>G) c.547+7A>G (n.547+7A>G) c.484+7A>G (n.484+7A>G) c.452A>G (p.Asp151Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.36684554C>A | CA566704491 | CDKN1A | c.445+8C>A (n.445+8C>A) c.547+8C>A (n.547+8C>A) c.484+8C>A (n.484+8C>A) c.453C>A (p.Asp151Glu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.36684554C= | CA1621457089 | CDKN1A | c.445+8C= (n.445+8C=) c.547+8C= (n.547+8C=) c.484+8C= (n.484+8C=) c.453C= (p.Asp151=) | |
6 | g.36684555A= | CA1621457090 | CDKN1A | c.445+9A= (n.445+9A=) c.547+9A= (n.547+9A=) c.484+9A= (n.484+9A=) c.454A= (p.Met152=) | |
6 | g.36684555A>G | CA1621457091 | CDKN1A | c.445+9A>G (n.445+9A>G) c.547+9A>G (n.547+9A>G) c.484+9A>G (n.484+9A>G) c.454A>G (p.Met152Val) | dbSNP |
6 | g.36684556T>C | CA1621457093 | CDKN1A | c.445+10T>C (n.445+10T>C) c.547+10T>C (n.547+10T>C) c.484+10T>C (n.484+10T>C) c.455T>C (p.Met152Thr) | dbSNP gnomAD v4 |
6 | g.36684556T= | CA1621457092 | CDKN1A | c.445+10T= (n.445+10T=) c.547+10T= (n.547+10T=) c.484+10T= (n.484+10T=) c.455T= (p.Met152=) | |
6 | g.36684557G>A | CA3780418 | CDKN1A | c.445+11G>A (n.445+11G>A) c.547+11G>A (n.547+11G>A) c.484+11G>A (n.484+11G>A) c.456G>A (p.Met152Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684557G= | CA1621457094 | CDKN1A | c.445+11G= (n.445+11G=) c.547+11G= (n.547+11G=) c.484+11G= (n.484+11G=) c.456G= (p.Met152=) | |
6 | g.36684558T>C | CA2838510110 | CDKN1A | c.445+12T>C (n.445+12T>C) c.547+12T>C (n.547+12T>C) c.484+12T>C (n.484+12T>C) c.457T>C (p.Cys153Arg) | |
6 | g.36684559G>A | CA137423760 | CDKN1A | c.445+13G>A (n.445+13G>A) c.547+13G>A (n.547+13G>A) c.484+13G>A (n.484+13G>A) c.458G>A (p.Cys153Tyr) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.36684559G= | CA1621457095 | CDKN1A | c.445+13G= (n.445+13G=) c.547+13G= (n.547+13G=) c.484+13G= (n.484+13G=) c.458G= (p.Cys153=) | |
6 | g.36684559G>T | CA2840993104 | CDKN1A | c.445+13G>T (n.445+13G>T) c.547+13G>T (n.547+13G>T) c.484+13G>T (n.484+13G>T) c.458G>T (p.Cys153Phe) | |
6 | g.36684560C>A | CA2678467027 | CDKN1A | c.445+14C>A (n.445+14C>A) c.547+14C>A (n.547+14C>A) c.484+14C>A (n.484+14C>A) c.459C>A (p.Cys153Ter) | gnomAD v4 |
6 | g.36684560C>T | CA2678467028 | CDKN1A | c.445+14C>T (n.445+14C>T) c.547+14C>T (n.547+14C>T) c.484+14C>T (n.484+14C>T) c.459C>T (p.Cys153=) | gnomAD v4 |
6 | g.36684561A= | CA1621457096 | CDKN1A | c.445+15A= (n.445+15A=) c.547+15A= (n.547+15A=) c.484+15A= (n.484+15A=) c.460A= (p.Thr154=) | |
6 | g.36684561A>C | CA566704492 | CDKN1A | c.445+15A>C (n.445+15A>C) c.547+15A>C (n.547+15A>C) c.484+15A>C (n.484+15A>C) c.460A>C (p.Thr154Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684561A>G | CA824302677 | CDKN1A | c.445+15A>G (n.445+15A>G) c.547+15A>G (n.547+15A>G) c.484+15A>G (n.484+15A>G) c.460A>G (p.Thr154Ala) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.36684562C>A | CA137423766 | CDKN1A | c.445+16C>A (n.445+16C>A) c.547+16C>A (n.547+16C>A) c.484+16C>A (n.484+16C>A) c.461C>A (p.Thr154Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684562C= | CA1621457097 | CDKN1A | c.445+16C= (n.445+16C=) c.547+16C= (n.547+16C=) c.484+16C= (n.484+16C=) c.461C= (p.Thr154=) | |
6 | g.36684562C>G | CA3780419 | CDKN1A | c.445+16C>G (n.445+16C>G) c.547+16C>G (n.547+16C>G) c.484+16C>G (n.484+16C>G) c.461C>G (p.Thr154Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684562C>T | CA3780420 | CDKN1A | c.445+16C>T (n.445+16C>T) c.547+16C>T (n.547+16C>T) c.484+16C>T (n.484+16C>T) c.461C>T (p.Thr154Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684563G>A | CA2678467030 | CDKN1A | c.445+17G>A (n.445+17G>A) c.547+17G>A (n.547+17G>A) c.484+17G>A (n.484+17G>A) c.462G>A (p.Thr154=) | gnomAD v4 |
6 | g.36684564G>A | CA1621457100 | CDKN1A | c.445+18G>A (n.445+18G>A) c.547+18G>A (n.547+18G>A) c.484+18G>A (n.484+18G>A) c.463G>A (p.Glu155Lys) | dbSNP gnomAD v4 |
6 | g.36684564G>C | CA1621457098 | CDKN1A | c.445+18G>C (n.445+18G>C) c.547+18G>C (n.547+18G>C) c.484+18G>C (n.484+18G>C) c.463G>C (p.Glu155Gln) | dbSNP gnomAD v4 |
6 | g.36684564G= | CA1621457099 | CDKN1A | c.445+18G= (n.445+18G=) c.547+18G= (n.547+18G=) c.484+18G= (n.484+18G=) c.463G= (p.Glu155=) | |
6 | g.36684567G>A | CA2578600457 | CDKN1A | c.445+21G>A (n.445+21G>A) c.547+21G>A (n.547+21G>A) c.484+21G>A (n.484+21G>A) c.466G>A (p.Gly156Arg) | |
6 | g.36684567G>T | CA2678467031 | CDKN1A | c.445+21G>T (n.445+21G>T) c.547+21G>T (n.547+21G>T) c.484+21G>T (n.484+21G>T) c.466G>T (p.Gly156Ter) | gnomAD v4 |
6 | g.36684568G>T | CA2678467032 | CDKN1A | c.445+22G>T (n.445+22G>T) c.547+22G>T (n.547+22G>T) c.484+22G>T (n.484+22G>T) c.467G>T (p.Gly156Val) | gnomAD v4 |
6 | g.36684569A>C | CA2770659425 | CDKN1A | c.445+23A>C (n.445+23A>C) c.547+23A>C (n.547+23A>C) c.484+23A>C (n.484+23A>C) c.468A>C (p.Gly156=) | |
6 | g.36684570C>A | CA2678467034 | CDKN1A | c.445+24C>A (n.445+24C>A) c.547+24C>A (n.547+24C>A) c.484+24C>A (n.484+24C>A) c.469C>A (p.Leu157Ile) | gnomAD v4 |
6 | g.36684573T>C | CA3780421 | CDKN1A | c.445+27T>C (n.445+27T>C) c.547+27T>C (n.547+27T>C) c.484+27T>C (n.484+27T>C) c.472T>C (p.Cys158Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.36684573T= | CA1621457101 | CDKN1A | c.445+27T= (n.445+27T=) c.547+27T= (n.547+27T=) c.484+27T= (n.484+27T=) c.472T= (p.Cys158=) | |
6 | g.36684574G>A | CA566704493 | CDKN1A | c.445+28G>A (n.445+28G>A) c.547+28G>A (n.547+28G>A) c.484+28G>A (n.484+28G>A) c.473G>A (p.Cys158Tyr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.36684574G= | CA1621457102 | CDKN1A | c.445+28G= (n.445+28G=) c.547+28G= (n.547+28G=) c.484+28G= (n.484+28G=) c.473G= (p.Cys158=) | |
6 | g.36684575T>G | CA3780422 | CDKN1A | c.445+29T>G (n.445+29T>G) c.547+29T>G (n.547+29T>G) c.484+29T>G (n.484+29T>G) c.474T>G (p.Cys158Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.36684575T= | CA1621457103 | CDKN1A | c.445+29T= (n.445+29T=) c.547+29T= (n.547+29T=) c.484+29T= (n.484+29T=) c.474T= (p.Cys158=) | |
6 | g.36684576A= | CA1621457104 | CDKN1A | c.445+30A= (n.445+30A=) c.547+30A= (n.547+30A=) c.484+30A= (n.484+30A=) c.475A= (p.Lys159=) | |
6 | g.36684576A>C | CA1621457105 | CDKN1A | c.445+30A>C (n.445+30A>C) c.547+30A>C (n.547+30A>C) c.484+30A>C (n.484+30A>C) c.475A>C (p.Lys159Gln) | dbSNP |
6 | g.36684576A>G | CA3780423 | CDKN1A | c.445+30A>G (n.445+30A>G) c.547+30A>G (n.547+30A>G) c.484+30A>G (n.484+30A>G) c.475A>G (p.Lys159Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684577del | CA2678467035 | CDKN1A | c.445+31del (n.445+31del) c.547+31del (n.547+31del) c.484+31del (n.484+31del) c.476del (p.Lys159ArgfsTer13) | gnomAD v4 |
6 | g.36684577A>G | CA2678467036 | CDKN1A | c.445+31A>G (n.445+31A>G) c.547+31A>G (n.547+31A>G) c.484+31A>G (n.484+31A>G) c.476A>G (p.Lys159Arg) | gnomAD v4 |
6 | g.36684578G>A | CA2678467038 | CDKN1A | c.445+32G>A (n.445+32G>A) c.547+32G>A (n.547+32G>A) c.484+32G>A (n.484+32G>A) c.477G>A (p.Lys159=) | gnomAD v4 |
6 | g.36684578G>T | CA2578600458 | CDKN1A | c.445+32G>T (n.445+32G>T) c.547+32G>T (n.547+32G>T) c.484+32G>T (n.484+32G>T) c.477G>T (p.Lys159Asn) | gnomAD v4 |
6 | g.36684579G>A | CA2678467039 | CDKN1A | c.445+33G>A (n.445+33G>A) c.547+33G>A (n.547+33G>A) c.484+33G>A (n.484+33G>A) c.478G>A (p.Gly160Arg) | gnomAD v4 |
6 | g.36684579G>C | CA2678467041 | CDKN1A | c.445+33G>C (n.445+33G>C) c.547+33G>C (n.547+33G>C) c.484+33G>C (n.484+33G>C) c.478G>C (p.Gly160Arg) | gnomAD v4 |
6 | g.36684579G>T | CA2678467040 | CDKN1A | c.445+33G>T (n.445+33G>T) c.547+33G>T (n.547+33G>T) c.484+33G>T (n.484+33G>T) c.478G>T (p.Gly160Ter) | gnomAD v4 |
6 | g.36684580G>A | CA3780424 | CDKN1A | c.445+34G>A (n.445+34G>A) c.547+34G>A (n.547+34G>A) c.484+34G>A (n.484+34G>A) c.479G>A (p.Gly160Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.36684580G= | CA1621457106 | CDKN1A | c.445+34G= (n.445+34G=) c.547+34G= (n.547+34G=) c.484+34G= (n.484+34G=) c.479G= (p.Gly160=) | |
6 | g.36684580G>T | CA566704494 | CDKN1A | c.445+34G>T (n.445+34G>T) c.547+34G>T (n.547+34G>T) c.484+34G>T (n.484+34G>T) c.479G>T (p.Gly160Val) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.36684581A= | CA1621457107 | CDKN1A | c.445+35A= (n.445+35A=) c.547+35A= (n.547+35A=) c.484+35A= (n.484+35A=) c.480A= (p.Gly160=) | |
6 | g.36684581A>G | CA2678467042 | CDKN1A | c.445+35A>G (n.445+35A>G) c.547+35A>G (n.547+35A>G) c.484+35A>G (n.484+35A>G) c.480A>G (p.Gly160=) | gnomAD v4 |
6 | g.36684581A>T | CA1621457108 | CDKN1A | c.445+35A>T (n.445+35A>T) c.547+35A>T (n.547+35A>T) c.484+35A>T (n.484+35A>T) c.480A>T (p.Gly160=) | dbSNP |
6 | g.36684582C>A | CA2678467044 | CDKN1A | c.445+36C>A (n.445+36C>A) c.547+36C>A (n.547+36C>A) c.484+36C>A (n.484+36C>A) c.481C>A (p.Pro161Thr) | dbSNP gnomAD v4 |
6 | g.36684582C= | CA1621457109 | CDKN1A | c.445+36C= (n.445+36C=) c.547+36C= (n.547+36C=) c.484+36C= (n.484+36C=) c.481C= (p.Pro161=) | |
6 | g.36684582C>G | CA2711156821 | CDKN1A | c.445+36C>G (n.445+36C>G) c.547+36C>G (n.547+36C>G) c.484+36C>G (n.484+36C>G) c.481C>G (p.Pro161Ala) | dbSNP |
6 | g.36684582C>T | CA566704495 | CDKN1A | c.445+36C>T (n.445+36C>T) c.547+36C>T (n.547+36C>T) c.484+36C>T (n.484+36C>T) c.481C>T (p.Pro161Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684583del | CA2578600459 | CDKN1A | c.445+37del (n.445+37del) c.547+37del (n.547+37del) c.484+37del (n.484+37del) c.482del (p.Pro161GlnfsTer11) | gnomAD v4 |
6 | g.36684583C>A | CA2578600460 | CDKN1A | c.445+37C>A (n.445+37C>A) c.547+37C>A (n.547+37C>A) c.484+37C>A (n.484+37C>A) c.482C>A (p.Pro161Gln) | gnomAD v4 |
6 | g.36684583C= | CA1621457110 | CDKN1A | c.445+37C= (n.445+37C=) c.547+37C= (n.547+37C=) c.484+37C= (n.484+37C=) c.482C= (p.Pro161=) | |
6 | g.36684583C>T | CA566704496 | CDKN1A | c.445+37C>T (n.445+37C>T) c.547+37C>T (n.547+37C>T) c.484+37C>T (n.484+37C>T) c.482C>T (p.Pro161Leu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.36684584A>G | CA2711444456 | CDKN1A | c.445+38A>G (n.445+38A>G) c.547+38A>G (n.547+38A>G) c.484+38A>G (n.484+38A>G) c.483A>G (p.Pro161=) | dbSNP |
6 | g.36684584A>T | CA2578600462 | CDKN1A | c.445+38A>T (n.445+38A>T) c.547+38A>T (n.547+38A>T) c.484+38A>T (n.484+38A>T) c.483A>T (p.Pro161=) | |
6 | g.36684584_36684587del | CA2578600461 | CDKN1A | c.445+38_445+41del (n.445+38_445+41del) c.547+38_547+41del (n.547+38_547+41del) c.484+38_484+41del (n.484+38_484+41del) c.483_486del (p.Gly162SerfsTer9) | gnomAD v4 |
6 | g.36684584_36684585insT | CA2578600463 | CDKN1A | c.445+38_445+39insT (n.445+38_445+39insT) c.547+38_547+39insT (n.547+38_547+39insT) c.484+38_484+39insT (n.484+38_484+39insT) c.483_484insT (p.Gly162TrpfsTer?) | gnomAD v4 |
6 | g.36684585G>T | CA2678467045 | CDKN1A | c.445+39G>T (n.445+39G>T) c.547+39G>T (n.547+39G>T) c.484+39G>T (n.484+39G>T) c.484G>T (p.Gly162Ter) | gnomAD v4 |
6 | g.36684586G>A | CA137423837 | CDKN1A | c.445+40G>A (n.445+40G>A) c.547+40G>A (n.547+40G>A) c.484+40G>A (n.484+40G>A) c.485G>A (p.Gly162Glu) | dbSNP gnomAD v4 |
6 | g.36684586G= | CA1621457111 | CDKN1A | c.445+40G= (n.445+40G=) c.547+40G= (n.547+40G=) c.484+40G= (n.484+40G=) c.485G= (p.Gly162=) | |
6 | g.36684586G>T | CA2678467047 | CDKN1A | c.445+40G>T (n.445+40G>T) c.547+40G>T (n.547+40G>T) c.484+40G>T (n.484+40G>T) c.485G>T (p.Gly162Val) | gnomAD v4 |
6 | g.36684587A>G | CA2678467048 | CDKN1A | c.445+41A>G (n.445+41A>G) c.547+41A>G (n.547+41A>G) c.484+41A>G (n.484+41A>G) c.486A>G (p.Gly162=) | gnomAD v4 |
6 | g.36684589T>C | CA2770659426 | CDKN1A | c.445+43T>C (n.445+43T>C) c.547+43T>C (n.547+43T>C) c.484+43T>C (n.484+43T>C) c.488T>C (p.Phe163Ser) | |
6 | g.36684590C>A | CA566704497 | CDKN1A | c.445+44C>A (n.445+44C>A) c.547+44C>A (n.547+44C>A) c.484+44C>A (n.484+44C>A) c.489C>A (p.Phe163Leu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.36684590C= | CA1621457112 | CDKN1A | c.445+44C= (n.445+44C=) c.547+44C= (n.547+44C=) c.484+44C= (n.484+44C=) c.489C= (p.Phe163=) | |
6 | g.36684591T>A | CA2840993105 | CDKN1A | c.445+45T>A (n.445+45T>A) c.547+45T>A (n.547+45T>A) c.484+45T>A (n.484+45T>A) c.490T>A (p.Ser164Thr) | |
6 | g.36684591T>C | CA2678467049 | CDKN1A | c.445+45T>C (n.445+45T>C) c.547+45T>C (n.547+45T>C) c.484+45T>C (n.484+45T>C) c.490T>C (p.Ser164Pro) | gnomAD v4 |
6 | g.36684592C>A | CA2678467050 | CDKN1A | c.445+46C>A (n.445+46C>A) c.547+46C>A (n.547+46C>A) c.484+46C>A (n.484+46C>A) c.491C>A (p.Ser164Ter) | dbSNP gnomAD v4 |
6 | g.36684592C>G | CA2578600464 | CDKN1A | c.445+46C>G (n.445+46C>G) c.547+46C>G (n.547+46C>G) c.484+46C>G (n.484+46C>G) c.491C>G (p.Ser164Ter) | gnomAD v4 |
6 | g.36684593A= | CA1621457113 | CDKN1A | c.445+47A= (n.445+47A=) c.547+47A= (n.547+47A=) c.484+47A= (n.484+47A=) c.492A= (p.Ser164=) | |
6 | g.36684593A>C | CA566704498 | CDKN1A | c.445+47A>C (n.445+47A>C) c.547+47A>C (n.547+47A>C) c.484+47A>C (n.484+47A>C) c.492A>C (p.Ser164=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684593A>T | CA137423846 | CDKN1A | c.445+47A>T (n.445+47A>T) c.547+47A>T (n.547+47A>T) c.484+47A>T (n.484+47A>T) c.492A>T (p.Ser164=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684593dup | CA2840993106 | CDKN1A | c.445+47dup (n.445+47dup) c.547+47dup (n.547+47dup) c.484+47dup (n.484+47dup) c.492dup (p.Glu165ArgfsTer?) | |
6 | g.36684594G>T | CA2678467051 | CDKN1A | c.445+48G>T (n.445+48G>T) c.547+48G>T (n.547+48G>T) c.484+48G>T (n.484+48G>T) c.493G>T (p.Glu165Ter) | gnomAD v4 |
6 | g.36684596A>G | CA2555007996 | CDKN1A | c.445+50A>G (n.445+50A>G) c.547+50A>G (n.547+50A>G) c.484+50A>G (n.484+50A>G) c.495A>G (p.Glu165=) | |
6 | g.36684598C>A | CA2678467052 | CDKN1A | c.445+52C>A (n.445+52C>A) c.547+52C>A (n.547+52C>A) c.484+52C>A (n.484+52C>A) c.497C>A (p.Ser166Tyr) | gnomAD v4 |
6 | g.36684599C>A | CA2678467053 | CDKN1A | c.445+53C>A (n.445+53C>A) c.547+53C>A (n.547+53C>A) c.484+53C>A (n.484+53C>A) c.498C>A (p.Ser166=) | gnomAD v4 |
6 | g.36684599C>T | CA2678467055 | CDKN1A | c.445+53C>T (n.445+53C>T) c.547+53C>T (n.547+53C>T) c.484+53C>T (n.484+53C>T) c.498C>T (p.Ser166=) | gnomAD v4 |
6 | g.36684600del | CA2578600466 | CDKN1A | c.445+54del (n.445+54del) c.547+54del (n.547+54del) c.484+54del (n.484+54del) c.499del (p.Met167TrpfsTer5) | gnomAD v4 |
6 | g.36684600A= | CA1621457114 | CDKN1A | c.445+54A= (n.445+54A=) c.547+54A= (n.547+54A=) c.484+54A= (n.484+54A=) c.499A= (p.Met167=) | |
6 | g.36684600A>G | CA137423851 | CDKN1A | c.445+54A>G (n.445+54A>G) c.547+54A>G (n.547+54A>G) c.484+54A>G (n.484+54A>G) c.499A>G (p.Met167Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684600A>T | CA2578600465 | CDKN1A | c.445+54A>T (n.445+54A>T) c.547+54A>T (n.547+54A>T) c.484+54A>T (n.484+54A>T) c.499A>T (p.Met167Leu) | |
6 | g.36684602G>A | CA1621457115 | CDKN1A | c.445+56G>A (n.445+56G>A) c.547+56G>A (n.547+56G>A) c.484+56G>A (n.484+56G>A) c.501G>A (p.Met167Ile) | dbSNP gnomAD v4 |
6 | g.36684602G= | CA1621457116 | CDKN1A | c.445+56G= (n.445+56G=) c.547+56G= (n.547+56G=) c.484+56G= (n.484+56G=) c.501G= (p.Met167=) | |
6 | g.36684602G>T | CA566704499 | CDKN1A | c.445+56G>T (n.445+56G>T) c.547+56G>T (n.547+56G>T) c.484+56G>T (n.484+56G>T) c.501G>T (p.Met167Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.36684603del | CA2838510115 | CDKN1A | c.445+57del (n.445+57del) c.547+57del (n.547+57del) c.484+57del (n.484+57del) c.502del (p.Val168SerfsTer4) | |
6 | g.36684603G>A | CA2678467056 | CDKN1A | c.445+57G>A (n.445+57G>A) c.547+57G>A (n.547+57G>A) c.484+57G>A (n.484+57G>A) c.502G>A (p.Val168Ile) | gnomAD v4 |
6 | g.36684603G= | CA1621457117 | CDKN1A | c.445+57G= (n.445+57G=) c.547+57G= (n.547+57G=) c.484+57G= (n.484+57G=) c.502G= (p.Val168=) | |
6 | g.36684603G>T | CA1621457118 | CDKN1A | c.445+57G>T (n.445+57G>T) c.547+57G>T (n.547+57G>T) c.484+57G>T (n.484+57G>T) c.502G>T (p.Val168Phe) | dbSNP |
6 | g.36684604T>A | CA2840993107 | CDKN1A | c.445+58T>A (n.445+58T>A) c.547+58T>A (n.547+58T>A) c.484+58T>A (n.484+58T>A) c.503T>A (p.Val168Asp) | |
6 | g.36684604T>G | CA2839932645 | CDKN1A | c.445+58T>G (n.445+58T>G) c.547+58T>G (n.547+58T>G) c.484+58T>G (n.484+58T>G) c.503T>G (p.Val168Gly) | |
6 | g.36684605C>A | CA2678467057 | CDKN1A | c.445+59C>A (n.445+59C>A) c.547+59C>A (n.547+59C>A) c.484+59C>A (n.484+59C>A) c.504C>A (p.Val168=) | gnomAD v4 |
6 | g.36684605C= | CA1621457119 | CDKN1A | c.445+59C= (n.445+59C=) c.547+59C= (n.547+59C=) c.484+59C= (n.484+59C=) c.504C= (p.Val168=) | |
6 | g.36684605C>T | CA450129214 | CDKN1A | c.445+59C>T (n.445+59C>T) c.547+59C>T (n.547+59C>T) c.484+59C>T (n.484+59C>T) c.504C>T (p.Val168=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.36684606C>A | CA2578600467 | CDKN1A | c.445+60C>A (n.445+60C>A) c.547+60C>A (n.547+60C>A) c.484+60C>A (n.484+60C>A) c.505C>A (p.Gln169Lys) | dbSNP |
6 | g.36684607A= | CA1621457120 | CDKN1A | c.445+61A= (n.445+61A=) c.547+61A= (n.547+61A=) c.484+61A= (n.484+61A=) c.506A= (p.Gln169=) | |
6 | g.36684607A>G | CA1621457121 | CDKN1A | c.445+61A>G (n.445+61A>G) c.547+61A>G (n.547+61A>G) c.484+61A>G (n.484+61A>G) c.506A>G (p.Gln169Arg) | dbSNP gnomAD v4 |
6 | g.36684608A= | CA1621457122 | CDKN1A | c.445+62A= (n.445+62A=) c.547+62A= (n.547+62A=) c.484+62A= (n.484+62A=) c.507A= (p.Gln169=) | |
6 | g.36684608A>G | CA1621457123 | CDKN1A | c.445+62A>G (n.445+62A>G) c.547+62A>G (n.547+62A>G) c.484+62A>G (n.484+62A>G) c.507A>G (p.Gln169=) | dbSNP gnomAD v4 |
6 | g.36684609G>T | CA2678467059 | CDKN1A | c.445+63G>T (n.445+63G>T) c.547+63G>T (n.547+63G>T) c.484+63G>T (n.484+63G>T) c.508G>T (p.Gly170Trp) | gnomAD v4 |
6 | g.36684610G>A | CA1621457125 | CDKN1A | c.445+64G>A (n.445+64G>A) c.547+64G>A (n.547+64G>A) c.484+64G>A (n.484+64G>A) c.509G>A (p.Gly170Glu) | dbSNP gnomAD v4 |
6 | g.36684610G>C | CA824302705 | CDKN1A | c.445+64G>C (n.445+64G>C) c.547+64G>C (n.547+64G>C) c.484+64G>C (n.484+64G>C) c.509G>C (p.Gly170Ala) | dbSNP gnomAD v4 |
6 | g.36684610G= | CA1621457124 | CDKN1A | c.445+64G= (n.445+64G=) c.547+64G= (n.547+64G=) c.484+64G= (n.484+64G=) c.509G= (p.Gly170=) | |
6 | g.36684610G>T | CA2678467060 | CDKN1A | c.445+64G>T (n.445+64G>T) c.547+64G>T (n.547+64G>T) c.484+64G>T (n.484+64G>T) c.509G>T (p.Gly170Val) | gnomAD v4 |
6 | g.36684611G>A | CA2678467061 | CDKN1A | c.445+65G>A (n.445+65G>A) c.547+65G>A (n.547+65G>A) c.484+65G>A (n.484+65G>A) c.510G>A (p.Gly170=) | gnomAD v4 |
6 | g.36684611G>T | CA2678467062 | CDKN1A | c.445+65G>T (n.445+65G>T) c.547+65G>T (n.547+65G>T) c.484+65G>T (n.484+65G>T) c.510G>T (p.Gly170=) | gnomAD v4 |
6 | g.36684612C>A | CA2578600468 | CDKN1A | c.445+66C>A (n.445+66C>A) c.547+66C>A (n.547+66C>A) c.484+66C>A (n.484+66C>A) c.511C>A (p.Leu171Met) | gnomAD v4 |
6 | g.36684614G>C | CA1087904858 | CDKN1A | c.445+68G>C (n.445+68G>C) c.547+68G>C (n.547+68G>C) c.484+68G>C (n.484+68G>C) c.513G>C (p.Leu171=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.36684614G= | CA1621457126 | CDKN1A | c.445+68G= (n.445+68G=) c.547+68G= (n.547+68G=) c.484+68G= (n.484+68G=) c.513G= (p.Leu171=) | |
6 | g.36684616C>A | CA2678467063 | CDKN1A | c.445+70C>A (n.445+70C>A) c.547+70C>A (n.547+70C>A) c.484+70C>A (n.484+70C>A) c.515C>A (p.Thr172Asn) | gnomAD v4 |
6 | g.36684616C>T | CA2578600469 | CDKN1A | c.445+70C>T (n.445+70C>T) c.547+70C>T (n.547+70C>T) c.484+70C>T (n.484+70C>T) c.515C>T (p.Thr172Ile) | gnomAD v4 |
6 | g.36684617C>A | CA2578600470 | CDKN1A | c.445+71C>A (n.445+71C>A) c.547+71C>A (n.547+71C>A) c.484+71C>A (n.484+71C>A) c.516C>A (p.Thr172=) | |
6 | g.36684617C>T | CA2678467065 | CDKN1A | c.445+71C>T (n.445+71C>T) c.547+71C>T (n.547+71C>T) c.484+71C>T (n.484+71C>T) c.516C>T (p.Thr172=) | gnomAD v4 |
6 | g.36684618T>A | CA2578600471 | CDKN1A | c.445+72T>A (n.445+72T>A) c.547+72T>A (n.547+72T>A) c.484+72T>A (n.484+72T>A) c.517T>A (p.Cys173Ser) | |
6 | g.36684618T>C | CA2678467066 | CDKN1A | c.445+72T>C (n.445+72T>C) c.547+72T>C (n.547+72T>C) c.484+72T>C (n.484+72T>C) c.517T>C (p.Cys173Arg) | gnomAD v4 |
6 | g.36684619G>A | CA824302707 | CDKN1A | c.445+73G>A (n.445+73G>A) c.547+73G>A (n.547+73G>A) c.484+73G>A (n.484+73G>A) c.518G>A (p.Cys173Tyr) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.36684619G= | CA1621457127 | CDKN1A | c.445+73G= (n.445+73G=) c.547+73G= (n.547+73G=) c.484+73G= (n.484+73G=) c.518G= (p.Cys173=) | |
6 | g.36684619G>T | CA2678467067 | CDKN1A | c.445+73G>T (n.445+73G>T) c.547+73G>T (n.547+73G>T) c.484+73G>T (n.484+73G>T) c.518G>T (p.Cys173Phe) | gnomAD v4 |
6 | g.36684620T>C | CA1621457129 | CDKN1A | c.445+74T>C (n.445+74T>C) c.547+74T>C (n.547+74T>C) c.484+74T>C (n.484+74T>C) c.519T>C (p.Cys173=) | dbSNP |
6 | g.36684620T= | CA1621457128 | CDKN1A | c.445+74T= (n.445+74T=) c.547+74T= (n.547+74T=) c.484+74T= (n.484+74T=) c.519T= (p.Cys173=) | |
6 | g.36684621_36684622del | CA2840993108 | CDKN1A | c.445+75_445+76del (n.445+75_445+76del) c.547+75_547+76del (n.547+75_547+76del) c.484+75_484+76del (n.484+75_484+76del) c.520_521del (p.Leu174GlyfsTer?) | |
6 | g.36684621C>A | CA2578600472 | CDKN1A | c.445+75C>A (n.445+75C>A) c.547+75C>A (n.547+75C>A) c.484+75C>A (n.484+75C>A) c.520C>A (p.Leu174Met) | gnomAD v4 |
6 | g.36684622T= | CA1621457130 | CDKN1A | c.445+76T= (n.445+76T=) c.547+76T= (n.547+76T=) c.484+76T= (n.484+76T=) c.521T= (p.Leu174=) | |
6 | g.36684624dup | CA824302709 | CDKN1A | c.445+78dup (n.445+78dup) c.547+78dup (n.547+78dup) c.484+78dup (n.484+78dup) c.523dup (p.Val175GlyfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.36684624del | CA2578600473 | CDKN1A | c.445+78del (n.445+78del) c.547+78del (n.547+78del) c.484+78del (n.484+78del) c.523del (p.Val175SerfsTer16) | gnomAD v4 |
6 | g.36684624G>A | CA824302710 | CDKN1A | c.445+78G>A (n.445+78G>A) c.547+78G>A (n.547+78G>A) c.484+78G>A (n.484+78G>A) c.523G>A (p.Val175Ile) | dbSNP gnomAD v4 |
6 | g.36684624G>C | CA1621457132 | CDKN1A | c.445+78G>C (n.445+78G>C) c.547+78G>C (n.547+78G>C) c.484+78G>C (n.484+78G>C) c.523G>C (p.Val175Leu) | dbSNP gnomAD v4 |
6 | g.36684624G= | CA1621457131 | CDKN1A | c.445+78G= (n.445+78G=) c.547+78G= (n.547+78G=) c.484+78G= (n.484+78G=) c.523G= (p.Val175=) | |
6 | g.36684624G>T | CA137423862 | CDKN1A | c.445+78G>T (n.445+78G>T) c.547+78G>T (n.547+78G>T) c.484+78G>T (n.484+78G>T) c.523G>T (p.Val175Phe) | dbSNP gnomAD v4 |
6 | g.36684625T>C | CA2678467069 | CDKN1A | c.445+79T>C (n.445+79T>C) c.547+79T>C (n.547+79T>C) c.484+79T>C (n.484+79T>C) c.524T>C (p.Val175Ala) | gnomAD v4 |
6 | g.36684626C>A | CA2578600474 | CDKN1A | c.445+80C>A (n.445+80C>A) c.547+80C>A (n.547+80C>A) c.484+80C>A (n.484+80C>A) c.525C>A (p.Val175=) | gnomAD v4 |
6 | g.36684626C>T | CA2678467070 | CDKN1A | c.445+80C>T (n.445+80C>T) c.547+80C>T (n.547+80C>T) c.484+80C>T (n.484+80C>T) c.525C>T (p.Val175=) | gnomAD v4 |
6 | g.36684627C>A | CA2578600475 | CDKN1A | c.445+81C>A (n.445+81C>A) c.547+81C>A (n.547+81C>A) c.484+81C>A (n.484+81C>A) c.526C>A (p.Leu176Met) | gnomAD v4 |
6 | g.36684628T>A | CA2578600476 | CDKN1A | c.445+82T>A (n.445+82T>A) c.547+82T>A (n.547+82T>A) c.484+82T>A (n.484+82T>A) c.527T>A (p.Leu176Gln) | |
6 | g.36684628T>C | CA2678467071 | CDKN1A | c.445+82T>C (n.445+82T>C) c.547+82T>C (n.547+82T>C) c.484+82T>C (n.484+82T>C) c.527T>C (p.Leu176Pro) | gnomAD v4 |
6 | g.36684629G>A | CA2678467073 | CDKN1A | c.445+83G>A (n.445+83G>A) c.547+83G>A (n.547+83G>A) c.484+83G>A (n.484+83G>A) c.528G>A (p.Leu176=) | gnomAD v4 |
6 | g.36684629G>T | CA2678467074 | CDKN1A | c.445+83G>T (n.445+83G>T) c.547+83G>T (n.547+83G>T) c.484+83G>T (n.484+83G>T) c.528G>T (p.Leu176=) | gnomAD v4 |