| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136517782T>A | CA375562907 | NOTCH1 | c.1411A>T (p.Ile471Phe) c.*647A>T (n.*647A>T) c.712A>T (p.Ile238Phe) c.688A>T (p.Ile230Phe) | dbSNP |
| 9 | g.136517782T>C | CA375562910 | NOTCH1 | c.1411A>G (p.Ile471Val) c.*647A>G (n.*647A>G) c.712A>G (p.Ile238Val) c.688A>G (p.Ile230Val) | dbSNP |
| 9 | g.136517782T>G | CA375562911 | NOTCH1 | c.1411A>C (p.Ile471Leu) c.*647A>C (n.*647A>C) c.712A>C (p.Ile238Leu) c.688A>C (p.Ile230Leu) | dbSNP |
| 9 | g.136517783C>A | CA375562913 | NOTCH1 | c.1410G>T (p.Gln470His) c.*646G>T (n.*646G>T) c.711G>T (p.Gln237His) c.687G>T (p.Gln229His) | dbSNP |
| 9 | g.136517783C>G | CA375562914 | NOTCH1 | c.1410G>C (p.Gln470His) c.*646G>C (n.*646G>C) c.711G>C (p.Gln237His) c.687G>C (p.Gln229His) | dbSNP |
| 9 | g.136517783C>T | CA5341815 | NOTCH1 | c.1410G>A (p.Gln470=) c.*646G>A (n.*646G>A) c.711G>A (p.Gln237=) c.687G>A (p.Gln229=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.136517784T>A | CA375562917 | NOTCH1 | c.1409A>T (p.Gln470Leu) c.*645A>T (n.*645A>T) c.710A>T (p.Gln237Leu) c.686A>T (p.Gln229Leu) | |
| 9 | g.136517784T>C | CA375562916 | NOTCH1 | c.1409A>G (p.Gln470Arg) c.*645A>G (n.*645A>G) c.710A>G (p.Gln237Arg) c.686A>G (p.Gln229Arg) | |
| 9 | g.136517784T>G | CA375562915 | NOTCH1 | c.1409A>C (p.Gln470Pro) c.*645A>C (n.*645A>C) c.710A>C (p.Gln237Pro) c.686A>C (p.Gln229Pro) | |
| 9 | g.136517785G>A | CA375562919 | NOTCH1 | c.1408C>T (p.Gln470Ter) c.*644C>T (n.*644C>T) c.709C>T (p.Gln237Ter) c.685C>T (p.Gln229Ter) | dbSNP |
| 9 | g.136517785G>C | CA375562920 | NOTCH1 | c.1408C>G (p.Gln470Glu) c.*644C>G (n.*644C>G) c.709C>G (p.Gln237Glu) c.685C>G (p.Gln229Glu) | dbSNP |
| 9 | g.136517785G>T | CA375562922 | NOTCH1 | c.1408C>A (p.Gln470Lys) c.*644C>A (n.*644C>A) c.709C>A (p.Gln237Lys) c.685C>A (p.Gln229Lys) | |
| 9 | g.136517786G>A | CA467718148 | NOTCH1 | c.1407C>T (p.Asp469=) c.*643C>T (n.*643C>T) c.708C>T (p.Asp236=) c.684C>T (p.Asp228=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517786G>C | CA375562924 | NOTCH1 | c.1407C>G (p.Asp469Glu) c.*643C>G (n.*643C>G) c.708C>G (p.Asp236Glu) c.684C>G (p.Asp228Glu) | dbSNP |
| 9 | g.136517786G>T | CA375562925 | NOTCH1 | c.1407C>A (p.Asp469Glu) c.*643C>A (n.*643C>A) c.708C>A (p.Asp236Glu) c.684C>A (p.Asp228Glu) | |
| 9 | g.136517787_136517795del | CA2497273463 | NOTCH1 | c.1399_1407del (p.Cys467_Asp469del) c.*635_*643del (n.*635_*643del) c.700_708del (p.Cys234_Asp236del) c.676_684del (p.Cys226_Asp228del) | dbSNP |
| 9 | g.136517787T>A | CA375562927 | NOTCH1 | c.1406A>T (p.Asp469Val) c.*642A>T (n.*642A>T) c.707A>T (p.Asp236Val) c.683A>T (p.Asp228Val) | |
| 9 | g.136517787T>C | CA375562928 | NOTCH1 | c.1406A>G (p.Asp469Gly) c.*642A>G (n.*642A>G) c.707A>G (p.Asp236Gly) c.683A>G (p.Asp228Gly) | gnomAD v4 COSMIC COSMIC |
| 9 | g.136517787T>G | CA375562930 | NOTCH1 | c.1406A>C (p.Asp469Ala) c.*642A>C (n.*642A>C) c.707A>C (p.Asp236Ala) c.683A>C (p.Asp228Ala) | |
| 9 | g.136517788C>A | CA375562931 | NOTCH1 | c.1405G>T (p.Asp469Tyr) c.*641G>T (n.*641G>T) c.706G>T (p.Asp236Tyr) c.682G>T (p.Asp228Tyr) | dbSNP COSMIC COSMIC |
| 9 | g.136517788C>G | CA375562932 | NOTCH1 | c.1405G>C (p.Asp469His) c.*641G>C (n.*641G>C) c.706G>C (p.Asp236His) c.682G>C (p.Asp228His) | dbSNP |
| 9 | g.136517788C>T | CA375562933 | NOTCH1 | c.1405G>A (p.Asp469Asn) c.*641G>A (n.*641G>A) c.706G>A (p.Asp236Asn) c.682G>A (p.Asp228Asn) | dbSNP COSMIC COSMIC |
| 9 | g.136517789del | CA2721108135 | NOTCH1 | c.1405del (p.Asp469ThrfsTer?) c.*641del (n.*641del) c.706del (p.Asp236ThrfsTer?) c.682del (p.Asp228ThrfsTer?) | dbSNP |
| 9 | g.136517789C>A | CA467718152 | NOTCH1 | c.1404G>T (p.Leu468=) c.*640G>T (n.*640G>T) c.705G>T (p.Leu235=) c.681G>T (p.Leu227=) | dbSNP |
| 9 | g.136517789C>G | CA467718153 | NOTCH1 | c.1404G>C (p.Leu468=) c.*640G>C (n.*640G>C) c.705G>C (p.Leu235=) c.681G>C (p.Leu227=) | |
| 9 | g.136517789C>T | CA467718155 | NOTCH1 | c.1404G>A (p.Leu468=) c.*640G>A (n.*640G>A) c.705G>A (p.Leu235=) c.681G>A (p.Leu227=) | dbSNP |
| 9 | g.136517790A>C | CA375562935 | NOTCH1 | c.1403T>G (p.Leu468Arg) c.*639T>G (n.*639T>G) c.704T>G (p.Leu235Arg) c.680T>G (p.Leu227Arg) | |
| 9 | g.136517790A>G | CA375562936 | NOTCH1 | c.1403T>C (p.Leu468Pro) c.*639T>C (n.*639T>C) c.704T>C (p.Leu235Pro) c.680T>C (p.Leu227Pro) | dbSNP |
| 9 | g.136517790A>T | CA375562937 | NOTCH1 | c.1403T>A (p.Leu468Gln) c.*639T>A (n.*639T>A) c.704T>A (p.Leu235Gln) c.680T>A (p.Leu227Gln) | dbSNP |
| 9 | g.136517791G>A | CA5341816 | NOTCH1 | c.1402C>T (p.Leu468=) c.*638C>T (n.*638C>T) c.703C>T (p.Leu235=) c.679C>T (p.Leu227=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.136517791G>C | CA375562939 | NOTCH1 | c.1402C>G (p.Leu468Val) c.*638C>G (n.*638C>G) c.703C>G (p.Leu235Val) c.679C>G (p.Leu227Val) | dbSNP |
| 9 | g.136517791G>T | CA375562938 | NOTCH1 | c.1402C>A (p.Leu468Met) c.*638C>A (n.*638C>A) c.703C>A (p.Leu235Met) c.679C>A (p.Leu227Met) | dbSNP |
| 9 | g.136517792G>A | CA467718157 | NOTCH1 | c.1401C>T (p.Cys467=) c.*637C>T (n.*637C>T) c.702C>T (p.Cys234=) c.678C>T (p.Cys226=) | dbSNP |
| 9 | g.136517792G>C | CA375562940 | NOTCH1 | c.1401C>G (p.Cys467Trp) c.*637C>G (n.*637C>G) c.702C>G (p.Cys234Trp) c.678C>G (p.Cys226Trp) | dbSNP |
| 9 | g.136517792G>T | CA375562941 | NOTCH1 | c.1401C>A (p.Cys467Ter) c.*637C>A (n.*637C>A) c.702C>A (p.Cys234Ter) c.678C>A (p.Cys226Ter) | |
| 9 | g.136517793C>A | CA375562942 | NOTCH1 | c.1400G>T (p.Cys467Phe) c.*636G>T (n.*636G>T) c.701G>T (p.Cys234Phe) c.677G>T (p.Cys226Phe) | dbSNP COSMIC COSMIC |
| 9 | g.136517793C>G | CA375562943 | NOTCH1 | c.1400G>C (p.Cys467Ser) c.*636G>C (n.*636G>C) c.701G>C (p.Cys234Ser) c.677G>C (p.Cys226Ser) | dbSNP |
| 9 | g.136517793C>T | CA375562944 | NOTCH1 | c.1400G>A (p.Cys467Tyr) c.*636G>A (n.*636G>A) c.701G>A (p.Cys234Tyr) c.677G>A (p.Cys226Tyr) | dbSNP COSMIC COSMIC |
| 9 | g.136517794A>C | CA375562946 | NOTCH1 | c.1399T>G (p.Cys467Gly) c.*635T>G (n.*635T>G) c.700T>G (p.Cys234Gly) c.676T>G (p.Cys226Gly) | |
| 9 | g.136517794A>G | CA375562947 | NOTCH1 | c.1399T>C (p.Cys467Arg) c.*635T>C (n.*635T>C) c.700T>C (p.Cys234Arg) c.676T>C (p.Cys226Arg) | dbSNP |
| 9 | g.136517794A>T | CA375562948 | NOTCH1 | c.1399T>A (p.Cys467Ser) c.*635T>A (n.*635T>A) c.700T>A (p.Cys234Ser) c.676T>A (p.Cys226Ser) | dbSNP |
| 9 | g.136517795G>A | CA467718161 | NOTCH1 | c.1398C>T (p.Thr466=) c.*634C>T (n.*634C>T) c.699C>T (p.Thr233=) c.675C>T (p.Thr225=) | dbSNP gnomAD v4 |
| 9 | g.136517795G>C | CA467718162 | NOTCH1 | c.1398C>G (p.Thr466=) c.*634C>G (n.*634C>G) c.699C>G (p.Thr233=) c.675C>G (p.Thr225=) | dbSNP |
| 9 | g.136517795G>T | CA467718163 | NOTCH1 | c.1398C>A (p.Thr466=) c.*634C>A (n.*634C>A) c.699C>A (p.Thr233=) c.675C>A (p.Thr225=) | |
| 9 | g.136517796G>A | CA375562950 | NOTCH1 | c.1397C>T (p.Thr466Ile) c.*633C>T (n.*633C>T) c.698C>T (p.Thr233Ile) c.674C>T (p.Thr225Ile) | dbSNP |
| 9 | g.136517796G>C | CA375562951 | NOTCH1 | c.1397C>G (p.Thr466Ser) c.*633C>G (n.*633C>G) c.698C>G (p.Thr233Ser) c.674C>G (p.Thr225Ser) | dbSNP |
| 9 | g.136517796G>T | CA375562952 | NOTCH1 | c.1397C>A (p.Thr466Asn) c.*633C>A (n.*633C>A) c.698C>A (p.Thr233Asn) c.674C>A (p.Thr225Asn) | |
| 9 | g.136517797del | CA891843341 | NOTCH1 | c.1396del (p.Thr466ProfsTer?) c.*632del (n.*632del) c.697del (p.Thr233ProfsTer?) c.673del (p.Thr225ProfsTer?) | ClinVar dbSNP |
| 9 | g.136517797T>A | CA375562957 | NOTCH1 | c.1396A>T (p.Thr466Ser) c.*632A>T (n.*632A>T) c.697A>T (p.Thr233Ser) c.673A>T (p.Thr225Ser) | |
| 9 | g.136517797T>C | CA375562956 | NOTCH1 | c.1396A>G (p.Thr466Ala) c.*632A>G (n.*632A>G) c.697A>G (p.Thr233Ala) c.673A>G (p.Thr225Ala) | dbSNP COSMIC |
| 9 | g.136517797T>G | CA375562954 | NOTCH1 | c.1396A>C (p.Thr466Pro) c.*632A>C (n.*632A>C) c.697A>C (p.Thr233Pro) c.673A>C (p.Thr225Pro) | dbSNP |
| 9 | g.136517798G>A | CA467718166 | NOTCH1 | c.1395C>T (p.Ala465=) c.*631C>T (n.*631C>T) c.696C>T (p.Ala232=) c.672C>T (p.Ala224=) | dbSNP |
| 9 | g.136517798G>C | CA467718168 | NOTCH1 | c.1395C>G (p.Ala465=) c.*631C>G (n.*631C>G) c.696C>G (p.Ala232=) c.672C>G (p.Ala224=) | |
| 9 | g.136517798G>T | CA467718171 | NOTCH1 | c.1395C>A (p.Ala465=) c.*631C>A (n.*631C>A) c.696C>A (p.Ala232=) c.672C>A (p.Ala224=) | dbSNP |
| 9 | g.136517799G>A | CA375562961 | NOTCH1 | c.1394C>T (p.Ala465Val) c.*630C>T (n.*630C>T) c.695C>T (p.Ala232Val) c.671C>T (p.Ala224Val) | dbSNP |
| 9 | g.136517799G>C | CA375562963 | NOTCH1 | c.1394C>G (p.Ala465Gly) c.*630C>G (n.*630C>G) c.695C>G (p.Ala232Gly) c.671C>G (p.Ala224Gly) | dbSNP |
| 9 | g.136517799G>T | CA375562964 | NOTCH1 | c.1394C>A (p.Ala465Asp) c.*630C>A (n.*630C>A) c.695C>A (p.Ala232Asp) c.671C>A (p.Ala224Asp) | |
| 9 | g.136517800C>A | CA375562966 | NOTCH1 | c.1393G>T (p.Ala465Ser) c.*629G>T (n.*629G>T) c.694G>T (p.Ala232Ser) c.670G>T (p.Ala224Ser) | dbSNP |
| 9 | g.136517800C>G | CA375562967 | NOTCH1 | c.1393G>C (p.Ala465Pro) c.*629G>C (n.*629G>C) c.694G>C (p.Ala232Pro) c.670G>C (p.Ala224Pro) | dbSNP |
| 9 | g.136517800C>T | CA16605792 | NOTCH1 | c.1393G>A (p.Ala465Thr) c.*629G>A (n.*629G>A) c.694G>A (p.Ala232Thr) c.670G>A (p.Ala224Thr) | ClinVar dbSNP COSMIC COSMIC |
| 9 | g.136517801G>A | CA5341817 | NOTCH1 | c.1392C>T (p.Asp464=) c.*628C>T (n.*628C>T) c.693C>T (p.Asp231=) c.669C>T (p.Asp223=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.136517801G>C | CA375562971 | NOTCH1 | c.1392C>G (p.Asp464Glu) c.*628C>G (n.*628C>G) c.693C>G (p.Asp231Glu) c.669C>G (p.Asp223Glu) | dbSNP |
| 9 | g.136517801G>T | CA375562973 | NOTCH1 | c.1392C>A (p.Asp464Glu) c.*628C>A (n.*628C>A) c.693C>A (p.Asp231Glu) c.669C>A (p.Asp223Glu) | |
| 9 | g.136517802T>A | CA375562975 | NOTCH1 | c.1391A>T (p.Asp464Val) c.*627A>T (n.*627A>T) c.692A>T (p.Asp231Val) c.668A>T (p.Asp223Val) | dbSNP |
| 9 | g.136517802T>C | CA375562976 | NOTCH1 | c.1391A>G (p.Asp464Gly) c.*627A>G (n.*627A>G) c.692A>G (p.Asp231Gly) c.668A>G (p.Asp223Gly) | gnomAD v4 |
| 9 | g.136517802T>G | CA375562977 | NOTCH1 | c.1391A>C (p.Asp464Ala) c.*627A>C (n.*627A>C) c.692A>C (p.Asp231Ala) c.668A>C (p.Asp223Ala) | dbSNP gnomAD v4 |
| 9 | g.136517803C>A | CA375562983 | NOTCH1 | c.1390G>T (p.Asp464Tyr) c.*626G>T (n.*626G>T) c.691G>T (p.Asp231Tyr) c.667G>T (p.Asp223Tyr) | dbSNP |
| 9 | g.136517803C>G | CA375562980 | NOTCH1 | c.1390G>C (p.Asp464His) c.*626G>C (n.*626G>C) c.691G>C (p.Asp231His) c.667G>C (p.Asp223His) | dbSNP |
| 9 | g.136517803C>T | CA5341818 | NOTCH1 | c.1390G>A (p.Asp464Asn) c.*626G>A (n.*626G>A) c.691G>A (p.Asp231Asn) c.667G>A (p.Asp223Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.136517804G>A | CA5341819 | NOTCH1 | c.1389C>T (p.Asn463=) c.*625C>T (n.*625C>T) c.690C>T (p.Asn230=) c.666C>T (p.Asn222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517804G>C | CA375562984 | NOTCH1 | c.1389C>G (p.Asn463Lys) c.*625C>G (n.*625C>G) c.690C>G (p.Asn230Lys) c.666C>G (p.Asn222Lys) | dbSNP |
| 9 | g.136517804G>T | CA375562985 | NOTCH1 | c.1389C>A (p.Asn463Lys) c.*625C>A (n.*625C>A) c.690C>A (p.Asn230Lys) c.666C>A (p.Asn222Lys) | dbSNP |
| 9 | g.136517805T>A | CA375562987 | NOTCH1 | c.1388A>T (p.Asn463Ile) c.*624A>T (n.*624A>T) c.689A>T (p.Asn230Ile) c.665A>T (p.Asn222Ile) | |
| 9 | g.136517805T>C | CA375562989 | NOTCH1 | c.1388A>G (p.Asn463Ser) c.*624A>G (n.*624A>G) c.689A>G (p.Asn230Ser) c.665A>G (p.Asn222Ser) | |
| 9 | g.136517805T>G | CA375562990 | NOTCH1 | c.1388A>C (p.Asn463Thr) c.*624A>C (n.*624A>C) c.689A>C (p.Asn230Thr) c.665A>C (p.Asn222Thr) | |
| 9 | g.136517806T>A | CA375562996 | NOTCH1 | c.1387A>T (p.Asn463Tyr) c.*623A>T (n.*623A>T) c.688A>T (p.Asn230Tyr) c.664A>T (p.Asn222Tyr) | gnomAD v4 |
| 9 | g.136517806T>C | CA375562992 | NOTCH1 | c.1387A>G (p.Asn463Asp) c.*623A>G (n.*623A>G) c.688A>G (p.Asn230Asp) c.664A>G (p.Asn222Asp) | |
| 9 | g.136517806T>G | CA375562994 | NOTCH1 | c.1387A>C (p.Asn463His) c.*623A>C (n.*623A>C) c.688A>C (p.Asn230His) c.664A>C (p.Asn222His) | |
| 9 | g.136517807C>A | CA375562997 | NOTCH1 | c.1386G>T (p.Gln462His) c.*622G>T (n.*622G>T) c.687G>T (p.Gln229His) c.663G>T (p.Gln221His) | |
| 9 | g.136517807C>G | CA375562998 | NOTCH1 | c.1386G>C (p.Gln462His) c.*622G>C (n.*622G>C) c.687G>C (p.Gln229His) c.663G>C (p.Gln221His) | |
| 9 | g.136517807C>T | CA467718180 | NOTCH1 | c.1386G>A (p.Gln462=) c.*622G>A (n.*622G>A) c.687G>A (p.Gln229=) c.663G>A (p.Gln221=) | ClinVar dbSNP |
| 9 | g.136517808T>A | CA375563000 | NOTCH1 | c.1385A>T (p.Gln462Leu) c.*621A>T (n.*621A>T) c.686A>T (p.Gln229Leu) c.662A>T (p.Gln221Leu) | dbSNP |
| 9 | g.136517808T>C | CA375563002 | NOTCH1 | c.1385A>G (p.Gln462Arg) c.*621A>G (n.*621A>G) c.686A>G (p.Gln229Arg) c.662A>G (p.Gln221Arg) | ClinVar |
| 9 | g.136517808T>G | CA375563004 | NOTCH1 | c.1385A>C (p.Gln462Pro) c.*621A>C (n.*621A>C) c.686A>C (p.Gln229Pro) c.662A>C (p.Gln221Pro) | |
| 9 | g.136517809G>A | CA375563009 | NOTCH1 | c.1384C>T (p.Gln462Ter) c.*620C>T (n.*620C>T) c.685C>T (p.Gln229Ter) c.661C>T (p.Gln221Ter) | dbSNP |
| 9 | g.136517809G>C | CA5341820 | NOTCH1 | c.1384C>G (p.Gln462Glu) c.*620C>G (n.*620C>G) c.685C>G (p.Gln229Glu) c.661C>G (p.Gln221Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.136517809G>T | CA375563007 | NOTCH1 | c.1384C>A (p.Gln462Lys) c.*620C>A (n.*620C>A) c.685C>A (p.Gln229Lys) c.661C>A (p.Gln221Lys) | dbSNP |
| 9 | g.136517810G>A | CA5341821 | NOTCH1 | c.1383C>T (p.Cys461=) c.*619C>T (n.*619C>T) c.684C>T (p.Cys228=) c.660C>T (p.Cys220=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517810G>C | CA375563010 | NOTCH1 | c.1383C>G (p.Cys461Trp) c.*619C>G (n.*619C>G) c.684C>G (p.Cys228Trp) c.660C>G (p.Cys220Trp) | dbSNP COSMIC COSMIC |
| 9 | g.136517810G>T | CA375563011 | NOTCH1 | c.1383C>A (p.Cys461Ter) c.*619C>A (n.*619C>A) c.684C>A (p.Cys228Ter) c.660C>A (p.Cys220Ter) | dbSNP |
| 9 | g.136517811C>A | CA375563012 | NOTCH1 | c.1382G>T (p.Cys461Phe) c.*618G>T (n.*618G>T) c.683G>T (p.Cys228Phe) c.659G>T (p.Cys220Phe) | dbSNP |
| 9 | g.136517811C>G | CA375563013 | NOTCH1 | c.1382G>C (p.Cys461Ser) c.*618G>C (n.*618G>C) c.683G>C (p.Cys228Ser) c.659G>C (p.Cys220Ser) | dbSNP |
| 9 | g.136517811C>T | CA375563014 | NOTCH1 | c.1382G>A (p.Cys461Tyr) c.*618G>A (n.*618G>A) c.683G>A (p.Cys228Tyr) c.659G>A (p.Cys220Tyr) | dbSNP |
| 9 | g.136517812A>C | CA375563015 | NOTCH1 | c.1381T>G (p.Cys461Gly) c.*617T>G (n.*617T>G) c.682T>G (p.Cys228Gly) c.658T>G (p.Cys220Gly) | dbSNP |
| 9 | g.136517812A>G | CA375563017 | NOTCH1 | c.1381T>C (p.Cys461Arg) c.*617T>C (n.*617T>C) c.682T>C (p.Cys228Arg) c.658T>C (p.Cys220Arg) | dbSNP |
| 9 | g.136517812A>T | CA375563020 | NOTCH1 | c.1381T>A (p.Cys461Ser) c.*617T>A (n.*617T>A) c.682T>A (p.Cys228Ser) c.658T>A (p.Cys220Ser) | dbSNP |
| 9 | g.136517813C>A | CA467718185 | NOTCH1 | c.1380G>T (p.Pro460=) c.*616G>T (n.*616G>T) c.681G>T (p.Pro227=) c.657G>T (p.Pro219=) | |
| 9 | g.136517813C>G | CA467718187 | NOTCH1 | c.1380G>C (p.Pro460=) c.*616G>C (n.*616G>C) c.681G>C (p.Pro227=) c.657G>C (p.Pro219=) | |
| 9 | g.136517813C>T | CA10605754 | NOTCH1 | c.1380G>A (p.Pro460=) c.*616G>A (n.*616G>A) c.681G>A (p.Pro227=) c.657G>A (p.Pro219=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.136517814G>A | CA5341822 | NOTCH1 | c.1379C>T (p.Pro460Leu) c.*615C>T (n.*615C>T) c.680C>T (p.Pro227Leu) c.656C>T (p.Pro219Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 9 | g.136517814G>C | CA375563021 | NOTCH1 | c.1379C>G (p.Pro460Arg) c.*615C>G (n.*615C>G) c.680C>G (p.Pro227Arg) c.656C>G (p.Pro219Arg) | dbSNP |
| 9 | g.136517814G>T | CA375563022 | NOTCH1 | c.1379C>A (p.Pro460Gln) c.*615C>A (n.*615C>A) c.680C>A (p.Pro227Gln) c.656C>A (p.Pro219Gln) | dbSNP |
| 9 | g.136517814_136517815delinsAA | CA645562532 | NOTCH1 | c.1378_1379delinsTT (p.Pro460Leu) c.*614_*615delinsTT (n.*614_*615delinsTT) c.679_680delinsTT (p.Pro227Leu) c.655_656delinsTT (p.Pro219Leu) | COSMIC COSMIC |
| 9 | g.136517815G>A | CA375563023 | NOTCH1 | c.1378C>T (p.Pro460Ser) c.*614C>T (n.*614C>T) c.679C>T (p.Pro227Ser) c.655C>T (p.Pro219Ser) | dbSNP gnomAD v4 COSMIC COSMIC |
| 9 | g.136517815G>C | CA375563025 | NOTCH1 | c.1378C>G (p.Pro460Ala) c.*614C>G (n.*614C>G) c.679C>G (p.Pro227Ala) c.655C>G (p.Pro219Ala) | dbSNP |
| 9 | g.136517815G>T | CA375563024 | NOTCH1 | c.1378C>A (p.Pro460Thr) c.*614C>A (n.*614C>A) c.679C>A (p.Pro227Thr) c.655C>A (p.Pro219Thr) | dbSNP |
| 9 | g.136517816G>A | CA467718192 | NOTCH1 | c.1377C>T (p.Asn459=) c.*613C>T (n.*613C>T) c.678C>T (p.Asn226=) c.654C>T (p.Asn218=) | dbSNP |
| 9 | g.136517816G>C | CA375563026 | NOTCH1 | c.1377C>G (p.Asn459Lys) c.*613C>G (n.*613C>G) c.678C>G (p.Asn226Lys) c.654C>G (p.Asn218Lys) | dbSNP |
| 9 | g.136517816G>T | CA375563028 | NOTCH1 | c.1377C>A (p.Asn459Lys) c.*613C>A (n.*613C>A) c.678C>A (p.Asn226Lys) c.654C>A (p.Asn218Lys) | |
| 9 | g.136517817T>A | CA375563030 | NOTCH1 | c.1376A>T (p.Asn459Ile) c.*612A>T (n.*612A>T) c.677A>T (p.Asn226Ile) c.653A>T (p.Asn218Ile) | dbSNP |
| 9 | g.136517817T>C | CA5341823 | NOTCH1 | c.1376A>G (p.Asn459Ser) c.*612A>G (n.*612A>G) c.677A>G (p.Asn226Ser) c.653A>G (p.Asn218Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517817T>G | CA375563032 | NOTCH1 | c.1376A>C (p.Asn459Thr) c.*612A>C (n.*612A>C) c.677A>C (p.Asn226Thr) c.653A>C (p.Asn218Thr) | dbSNP |
| 9 | g.136517818T>A | CA375563033 | NOTCH1 | c.1375A>T (p.Asn459Tyr) c.*611A>T (n.*611A>T) c.676A>T (p.Asn226Tyr) c.652A>T (p.Asn218Tyr) | dbSNP |
| 9 | g.136517818T>C | CA375563035 | NOTCH1 | c.1375A>G (p.Asn459Asp) c.*611A>G (n.*611A>G) c.676A>G (p.Asn226Asp) c.652A>G (p.Asn218Asp) | dbSNP |
| 9 | g.136517818T>G | CA375563037 | NOTCH1 | c.1375A>C (p.Asn459His) c.*611A>C (n.*611A>C) c.676A>C (p.Asn226His) c.652A>C (p.Asn218His) | dbSNP |
| 9 | g.136517819C>A | CA467718196 | NOTCH1 | c.1374G>T (p.Ser458=) c.*610G>T (n.*610G>T) c.675G>T (p.Ser225=) c.651G>T (p.Ser217=) | |
| 9 | g.136517819C>G | CA467718197 | NOTCH1 | c.1374G>C (p.Ser458=) c.*610G>C (n.*610G>C) c.675G>C (p.Ser225=) c.651G>C (p.Ser217=) | dbSNP |
| 9 | g.136517819C>T | CA10587670 | NOTCH1 | c.1374G>A (p.Ser458=) c.*610G>A (n.*610G>A) c.675G>A (p.Ser225=) c.651G>A (p.Ser217=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 9 | g.136517820G>A | CA5341824 | NOTCH1 | c.1373C>T (p.Ser458Leu) c.*609C>T (n.*609C>T) c.674C>T (p.Ser225Leu) c.650C>T (p.Ser217Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.136517820G>C | CA375563040 | NOTCH1 | c.1373C>G (p.Ser458Trp) c.*609C>G (n.*609C>G) c.674C>G (p.Ser225Trp) c.650C>G (p.Ser217Trp) | dbSNP |
| 9 | g.136517820G>T | CA375563041 | NOTCH1 | c.1373C>A (p.Ser458Ter) c.*609C>A (n.*609C>A) c.674C>A (p.Ser225Ter) c.650C>A (p.Ser217Ter) | |
| 9 | g.136517821A>C | CA375563046 | NOTCH1 | c.1372T>G (p.Ser458Ala) c.*608T>G (n.*608T>G) c.673T>G (p.Ser225Ala) c.649T>G (p.Ser217Ala) | |
| 9 | g.136517821A>G | CA375563043 | NOTCH1 | c.1372T>C (p.Ser458Pro) c.*608T>C (n.*608T>C) c.673T>C (p.Ser225Pro) c.649T>C (p.Ser217Pro) | dbSNP |
| 9 | g.136517821A>T | CA375563045 | NOTCH1 | c.1372T>A (p.Ser458Thr) c.*608T>A (n.*608T>A) c.673T>A (p.Ser225Thr) c.649T>A (p.Ser217Thr) | dbSNP |
| 9 | g.136517822G>A | CA467718200 | NOTCH1 | c.1371C>T (p.Val457=) c.*607C>T (n.*607C>T) c.672C>T (p.Val224=) c.648C>T (p.Val216=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.136517822G>C | CA467718202 | NOTCH1 | c.1371C>G (p.Val457=) c.*607C>G (n.*607C>G) c.672C>G (p.Val224=) c.648C>G (p.Val216=) | dbSNP |
| 9 | g.136517822G>T | CA467718203 | NOTCH1 | c.1371C>A (p.Val457=) c.*607C>A (n.*607C>A) c.672C>A (p.Val224=) c.648C>A (p.Val216=) | |
| 9 | g.136517823A>C | CA375563048 | NOTCH1 | c.1370T>G (p.Val457Gly) c.*606T>G (n.*606T>G) c.671T>G (p.Val224Gly) c.647T>G (p.Val216Gly) | dbSNP |
| 9 | g.136517823A>G | CA375563049 | NOTCH1 | c.1370T>C (p.Val457Ala) c.*606T>C (n.*606T>C) c.671T>C (p.Val224Ala) c.647T>C (p.Val216Ala) | dbSNP |
| 9 | g.136517823A>T | CA375563050 | NOTCH1 | c.1370T>A (p.Val457Asp) c.*606T>A (n.*606T>A) c.671T>A (p.Val224Asp) c.647T>A (p.Val216Asp) | dbSNP |
| 9 | g.136517824C>A | CA5341826 | NOTCH1 | c.1369G>T (p.Val457Phe) c.*605G>T (n.*605G>T) c.670G>T (p.Val224Phe) c.646G>T (p.Val216Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.136517824C>G | CA375563051 | NOTCH1 | c.1369G>C (p.Val457Leu) c.*605G>C (n.*605G>C) c.670G>C (p.Val224Leu) c.646G>C (p.Val216Leu) | |
| 9 | g.136517824C>T | CA5341825 | NOTCH1 | c.1369G>A (p.Val457Ile) c.*605G>A (n.*605G>A) c.670G>A (p.Val224Ile) c.646G>A (p.Val216Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.136517825G>A | CA5341827 | NOTCH1 | c.1368C>T (p.Cys456=) c.*604C>T (n.*604C>T) c.669C>T (p.Cys223=) c.645C>T (p.Cys215=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517825G>C | CA375563054 | NOTCH1 | c.1368C>G (p.Cys456Trp) c.*604C>G (n.*604C>G) c.669C>G (p.Cys223Trp) c.645C>G (p.Cys215Trp) | |
| 9 | g.136517825G>T | CA375563055 | NOTCH1 | c.1368C>A (p.Cys456Ter) c.*604C>A (n.*604C>A) c.669C>A (p.Cys223Ter) c.645C>A (p.Cys215Ter) | |
| 9 | g.136517826C>A | CA375563056 | NOTCH1 | c.1367G>T (p.Cys456Phe) c.*603G>T (n.*603G>T) c.668G>T (p.Cys223Phe) c.644G>T (p.Cys215Phe) | dbSNP |
| 9 | g.136517826C>G | CA375563057 | NOTCH1 | c.1367G>C (p.Cys456Ser) c.*603G>C (n.*603G>C) c.668G>C (p.Cys223Ser) c.644G>C (p.Cys215Ser) | dbSNP |
| 9 | g.136517826C>T | CA349951 | NOTCH1 | c.1367G>A (p.Cys456Tyr) c.*603G>A (n.*603G>A) c.668G>A (p.Cys223Tyr) c.644G>A (p.Cys215Tyr) | ClinVar dbSNP COSMIC COSMIC |
| 9 | g.136517827A>C | CA375563061 | NOTCH1 | c.1366T>G (p.Cys456Gly) c.*602T>G (n.*602T>G) c.667T>G (p.Cys223Gly) c.643T>G (p.Cys215Gly) | dbSNP |
| 9 | g.136517827A>G | CA375563063 | NOTCH1 | c.1366T>C (p.Cys456Arg) c.*602T>C (n.*602T>C) c.667T>C (p.Cys223Arg) c.643T>C (p.Cys215Arg) | dbSNP |
| 9 | g.136517827A>T | CA375563060 | NOTCH1 | c.1366T>A (p.Cys456Ser) c.*602T>A (n.*602T>A) c.667T>A (p.Cys223Ser) c.643T>A (p.Cys215Ser) | dbSNP |
| 9 | g.136517828C>A | CA375563064 | NOTCH1 | c.1365G>T (p.Glu455Asp) c.*601G>T (n.*601G>T) c.666G>T (p.Glu222Asp) c.642G>T (p.Glu214Asp) | |
| 9 | g.136517828C>G | CA375563065 | NOTCH1 | c.1365G>C (p.Glu455Asp) c.*601G>C (n.*601G>C) c.666G>C (p.Glu222Asp) c.642G>C (p.Glu214Asp) | dbSNP |
| 9 | g.136517828C>T | CA467718206 | NOTCH1 | c.1365G>A (p.Glu455=) c.*601G>A (n.*601G>A) c.666G>A (p.Glu222=) c.642G>A (p.Glu214=) | gnomAD v4 |
| 9 | g.136517829T>A | CA375563066 | NOTCH1 | c.1364A>T (p.Glu455Val) c.*600A>T (n.*600A>T) c.665A>T (p.Glu222Val) c.641A>T (p.Glu214Val) | dbSNP |
| 9 | g.136517829T>C | CA375563068 | NOTCH1 | c.1364A>G (p.Glu455Gly) c.*600A>G (n.*600A>G) c.665A>G (p.Glu222Gly) c.641A>G (p.Glu214Gly) | |
| 9 | g.136517829T>G | CA375563067 | NOTCH1 | c.1364A>C (p.Glu455Ala) c.*600A>C (n.*600A>C) c.665A>C (p.Glu222Ala) c.641A>C (p.Glu214Ala) | ClinVar |
| 9 | g.136517830C>A | CA375563070 | NOTCH1 | c.1363G>T (p.Glu455Ter) c.*599G>T (n.*599G>T) c.664G>T (p.Glu222Ter) c.640G>T (p.Glu214Ter) | |
| 9 | g.136517830C>G | CA375563072 | NOTCH1 | c.1363G>C (p.Glu455Gln) c.*599G>C (n.*599G>C) c.664G>C (p.Glu222Gln) c.640G>C (p.Glu214Gln) | ClinVar dbSNP |
| 9 | g.136517830C>T | CA375563073 | NOTCH1 | c.1363G>A (p.Glu455Lys) c.*599G>A (n.*599G>A) c.664G>A (p.Glu222Lys) c.640G>A (p.Glu214Lys) | ClinVar dbSNP COSMIC COSMIC |
| 9 | g.136517831G>A | CA5341828 | NOTCH1 | c.1362C>T (p.Asn454=) c.*598C>T (n.*598C>T) c.663C>T (p.Asn221=) c.639C>T (p.Asn213=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517831G>C | CA375563076 | NOTCH1 | c.1362C>G (p.Asn454Lys) c.*598C>G (n.*598C>G) c.663C>G (p.Asn221Lys) c.639C>G (p.Asn213Lys) | |
| 9 | g.136517831G>T | CA375563077 | NOTCH1 | c.1362C>A (p.Asn454Lys) c.*598C>A (n.*598C>A) c.663C>A (p.Asn221Lys) c.639C>A (p.Asn213Lys) | |
| 9 | g.136517832_136517834del | CA645562533 | NOTCH1 | c.1360_1362del (p.Asn454del) c.*596_*598del (n.*596_*598del) c.661_663del (p.Asn221del) c.637_639del (p.Asn213del) | COSMIC COSMIC |
| 9 | g.136517832T>A | CA375563081 | NOTCH1 | c.1361A>T (p.Asn454Ile) c.*597A>T (n.*597A>T) c.662A>T (p.Asn221Ile) c.638A>T (p.Asn213Ile) | dbSNP |
| 9 | g.136517832T>C | CA375563080 | NOTCH1 | c.1361A>G (p.Asn454Ser) c.*597A>G (n.*597A>G) c.662A>G (p.Asn221Ser) c.638A>G (p.Asn213Ser) | dbSNP gnomAD v4 |
| 9 | g.136517832T>G | CA375563079 | NOTCH1 | c.1361A>C (p.Asn454Thr) c.*597A>C (n.*597A>C) c.662A>C (p.Asn221Thr) c.638A>C (p.Asn213Thr) | dbSNP |
| 9 | g.136517833T>A | CA375563083 | NOTCH1 | c.1360A>T (p.Asn454Tyr) c.*596A>T (n.*596A>T) c.661A>T (p.Asn221Tyr) c.637A>T (p.Asn213Tyr) | dbSNP |
| 9 | g.136517833T>C | CA375563085 | NOTCH1 | c.1360A>G (p.Asn454Asp) c.*596A>G (n.*596A>G) c.661A>G (p.Asn221Asp) c.637A>G (p.Asn213Asp) | dbSNP |
| 9 | g.136517833T>G | CA375563087 | NOTCH1 | c.1360A>C (p.Asn454His) c.*596A>C (n.*596A>C) c.661A>C (p.Asn221His) c.637A>C (p.Asn213His) | |
| 9 | g.136517834G>A | CA467718209 | NOTCH1 | c.1359C>T (p.Val453=) c.*595C>T (n.*595C>T) c.660C>T (p.Val220=) c.636C>T (p.Val212=) | dbSNP |
| 9 | g.136517834G>C | CA467718210 | NOTCH1 | c.1359C>G (p.Val453=) c.*595C>G (n.*595C>G) c.660C>G (p.Val220=) c.636C>G (p.Val212=) | dbSNP |
| 9 | g.136517834G>T | CA467718211 | NOTCH1 | c.1359C>A (p.Val453=) c.*595C>A (n.*595C>A) c.660C>A (p.Val220=) c.636C>A (p.Val212=) | dbSNP |
| 9 | g.136517835A>C | CA375563088 | NOTCH1 | c.1358T>G (p.Val453Gly) c.*594T>G (n.*594T>G) c.659T>G (p.Val220Gly) c.635T>G (p.Val212Gly) | dbSNP |
| 9 | g.136517835A>G | CA375563089 | NOTCH1 | c.1358T>C (p.Val453Ala) c.*594T>C (n.*594T>C) c.659T>C (p.Val220Ala) c.635T>C (p.Val212Ala) | dbSNP |
| 9 | g.136517835A>T | CA375563090 | NOTCH1 | c.1358T>A (p.Val453Asp) c.*594T>A (n.*594T>A) c.659T>A (p.Val220Asp) c.635T>A (p.Val212Asp) | dbSNP |
| 9 | g.136517836C>A | CA375563091 | NOTCH1 | c.1357G>T (p.Val453Phe) c.*593G>T (n.*593G>T) c.658G>T (p.Val220Phe) c.634G>T (p.Val212Phe) | |
| 9 | g.136517836C>G | CA375563093 | NOTCH1 | c.1357G>C (p.Val453Leu) c.*593G>C (n.*593G>C) c.658G>C (p.Val220Leu) c.634G>C (p.Val212Leu) | dbSNP |
| 9 | g.136517836C>T | CA5341829 | NOTCH1 | c.1357G>A (p.Val453Ile) c.*593G>A (n.*593G>A) c.658G>A (p.Val220Ile) c.634G>A (p.Val212Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517837G>A | CA5341830 | NOTCH1 | c.1356C>T (p.Asp452=) c.*592C>T (n.*592C>T) c.657C>T (p.Asp219=) c.633C>T (p.Asp211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517837G>C | CA375563095 | NOTCH1 | c.1356C>G (p.Asp452Glu) c.*592C>G (n.*592C>G) c.657C>G (p.Asp219Glu) c.633C>G (p.Asp211Glu) | dbSNP |
| 9 | g.136517837G>T | CA375563097 | NOTCH1 | c.1356C>A (p.Asp452Glu) c.*592C>A (n.*592C>A) c.657C>A (p.Asp219Glu) c.633C>A (p.Asp211Glu) | |
| 9 | g.136517838T>A | CA375563098 | NOTCH1 | c.1355A>T (p.Asp452Val) c.*591A>T (n.*591A>T) c.656A>T (p.Asp219Val) c.632A>T (p.Asp211Val) | dbSNP |
| 9 | g.136517838T>C | CA375563099 | NOTCH1 | c.1355A>G (p.Asp452Gly) c.*591A>G (n.*591A>G) c.656A>G (p.Asp219Gly) c.632A>G (p.Asp211Gly) | dbSNP |
| 9 | g.136517838T>G | CA375563100 | NOTCH1 | c.1355A>C (p.Asp452Ala) c.*591A>C (n.*591A>C) c.656A>C (p.Asp219Ala) c.632A>C (p.Asp211Ala) | dbSNP |
| 9 | g.136517839C>A | CA375563103 | NOTCH1 | c.1354G>T (p.Asp452Tyr) c.*590G>T (n.*590G>T) c.655G>T (p.Asp219Tyr) c.631G>T (p.Asp211Tyr) | dbSNP |
| 9 | g.136517839C>G | CA375563104 | NOTCH1 | c.1354G>C (p.Asp452His) c.*590G>C (n.*590G>C) c.655G>C (p.Asp219His) c.631G>C (p.Asp211His) | dbSNP |
| 9 | g.136517839C>T | CA201587569 | NOTCH1 | c.1354G>A (p.Asp452Asn) c.*590G>A (n.*590G>A) c.655G>A (p.Asp219Asn) c.631G>A (p.Asp211Asn) | dbSNP gnomAD v4 |
| 9 | g.136517840G>A | CA5341831 | NOTCH1 | c.1353C>T (p.Ile451=) c.*589C>T (n.*589C>T) c.654C>T (p.Ile218=) c.630C>T (p.Ile210=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517840G>C | CA375563106 | NOTCH1 | c.1353C>G (p.Ile451Met) c.*589C>G (n.*589C>G) c.654C>G (p.Ile218Met) c.630C>G (p.Ile210Met) | dbSNP |
| 9 | g.136517840G>T | CA467718212 | NOTCH1 | c.1353C>A (p.Ile451=) c.*589C>A (n.*589C>A) c.654C>A (p.Ile218=) c.630C>A (p.Ile210=) | |
| 9 | g.136517841A>C | CA375563107 | NOTCH1 | c.1352T>G (p.Ile451Ser) c.*588T>G (n.*588T>G) c.653T>G (p.Ile218Ser) c.629T>G (p.Ile210Ser) | dbSNP |
| 9 | g.136517841A>G | CA375563109 | NOTCH1 | c.1352T>C (p.Ile451Thr) c.*588T>C (n.*588T>C) c.653T>C (p.Ile218Thr) c.629T>C (p.Ile210Thr) | dbSNP |
| 9 | g.136517841A>T | CA375563108 | NOTCH1 | c.1352T>A (p.Ile451Asn) c.*588T>A (n.*588T>A) c.653T>A (p.Ile218Asn) c.629T>A (p.Ile210Asn) | dbSNP |
| 9 | g.136517842T>A | CA375563110 | NOTCH1 | c.1351A>T (p.Ile451Phe) c.*587A>T (n.*587A>T) c.652A>T (p.Ile218Phe) c.628A>T (p.Ile210Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.136517842T>C | CA375563111 | NOTCH1 | c.1351A>G (p.Ile451Val) c.*587A>G (n.*587A>G) c.652A>G (p.Ile218Val) c.628A>G (p.Ile210Val) | dbSNP |
| 9 | g.136517842T>G | CA375563112 | NOTCH1 | c.1351A>C (p.Ile451Leu) c.*587A>C (n.*587A>C) c.652A>C (p.Ile218Leu) c.628A>C (p.Ile210Leu) | dbSNP |
| 9 | g.136517843C>A | CA375563114 | NOTCH1 | c.1350G>T (p.Glu450Asp) c.*586G>T (n.*586G>T) c.651G>T (p.Glu217Asp) c.627G>T (p.Glu209Asp) | dbSNP |
| 9 | g.136517843C>G | CA375563116 | NOTCH1 | c.1350G>C (p.Glu450Asp) c.*586G>C (n.*586G>C) c.651G>C (p.Glu217Asp) c.627G>C (p.Glu209Asp) | dbSNP |
| 9 | g.136517843C>T | CA5341832 | NOTCH1 | c.1350G>A (p.Glu450=) c.*586G>A (n.*586G>A) c.651G>A (p.Glu217=) c.627G>A (p.Glu209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517844T>A | CA375563117 | NOTCH1 | c.1349A>T (p.Glu450Val) c.*585A>T (n.*585A>T) c.650A>T (p.Glu217Val) c.626A>T (p.Glu209Val) | dbSNP |
| 9 | g.136517844T>C | CA375563119 | NOTCH1 | c.1349A>G (p.Glu450Gly) c.*585A>G (n.*585A>G) c.650A>G (p.Glu217Gly) c.626A>G (p.Glu209Gly) | dbSNP |
| 9 | g.136517844T>G | CA375563120 | NOTCH1 | c.1349A>C (p.Glu450Ala) c.*585A>C (n.*585A>C) c.650A>C (p.Glu217Ala) c.626A>C (p.Glu209Ala) | |
| 9 | g.136517845C>A | CA375563121 | NOTCH1 | c.1348G>T (p.Glu450Ter) c.*584G>T (n.*584G>T) c.649G>T (p.Glu217Ter) c.625G>T (p.Glu209Ter) | dbSNP |
| 9 | g.136517845C>G | CA375563123 | NOTCH1 | c.1348G>C (p.Glu450Gln) c.*584G>C (n.*584G>C) c.649G>C (p.Glu217Gln) c.625G>C (p.Glu209Gln) | dbSNP |
| 9 | g.136517845C>T | CA375563125 | NOTCH1 | c.1348G>A (p.Glu450Lys) c.*584G>A (n.*584G>A) c.649G>A (p.Glu217Lys) c.625G>A (p.Glu209Lys) | dbSNP COSMIC COSMIC |
| 9 | g.136517846G>A | CA467718213 | NOTCH1 | c.1347C>T (p.Cys449=) c.*583C>T (n.*583C>T) c.648C>T (p.Cys216=) c.624C>T (p.Cys208=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517846G>C | CA375563128 | NOTCH1 | c.1347C>G (p.Cys449Trp) c.*583C>G (n.*583C>G) c.648C>G (p.Cys216Trp) c.624C>G (p.Cys208Trp) | dbSNP |
| 9 | g.136517846G>T | CA375563126 | NOTCH1 | c.1347C>A (p.Cys449Ter) c.*583C>A (n.*583C>A) c.648C>A (p.Cys216Ter) c.624C>A (p.Cys208Ter) | dbSNP |
| 9 | g.136517847C>A | CA375563129 | NOTCH1 | c.1346G>T (p.Cys449Phe) c.*582G>T (n.*582G>T) c.647G>T (p.Cys216Phe) c.623G>T (p.Cys208Phe) | dbSNP |
| 9 | g.136517847C>G | CA375563131 | NOTCH1 | c.1346G>C (p.Cys449Ser) c.*582G>C (n.*582G>C) c.647G>C (p.Cys216Ser) c.623G>C (p.Cys208Ser) | dbSNP |
| 9 | g.136517847C>T | CA375563133 | NOTCH1 | c.1346G>A (p.Cys449Tyr) c.*582G>A (n.*582G>A) c.647G>A (p.Cys216Tyr) c.623G>A (p.Cys208Tyr) | dbSNP |
| 9 | g.136517848A>C | CA375563134 | NOTCH1 | c.1345T>G (p.Cys449Gly) c.*581T>G (n.*581T>G) c.646T>G (p.Cys216Gly) c.622T>G (p.Cys208Gly) | dbSNP |
| 9 | g.136517848A>G | CA349327 | NOTCH1 | c.1345T>C (p.Cys449Arg) c.*581T>C (n.*581T>C) c.646T>C (p.Cys216Arg) c.622T>C (p.Cys208Arg) | ClinVar dbSNP |
| 9 | g.136517848A>T | CA375563136 | NOTCH1 | c.1345T>A (p.Cys449Ser) c.*581T>A (n.*581T>A) c.646T>A (p.Cys216Ser) c.622T>A (p.Cys208Ser) | dbSNP |
| 9 | g.136517849T>A | CA467718214 | NOTCH1 | c.1344A>T (p.Arg448=) c.*580A>T (n.*580A>T) c.645A>T (p.Arg215=) c.621A>T (p.Arg207=) | |
| 9 | g.136517849T>C | CA467718215 | NOTCH1 | c.1344A>G (p.Arg448=) c.*580A>G (n.*580A>G) c.645A>G (p.Arg215=) c.621A>G (p.Arg207=) | |
| 9 | g.136517849T>G | CA467718216 | NOTCH1 | c.1344A>C (p.Arg448=) c.*580A>C (n.*580A>C) c.645A>C (p.Arg215=) c.621A>C (p.Arg207=) | |
| 9 | g.136517850C>A | CA375563137 | NOTCH1 | c.1343G>T (p.Arg448Leu) c.*579G>T (n.*579G>T) c.644G>T (p.Arg215Leu) c.620G>T (p.Arg207Leu) | COSMIC COSMIC |
| 9 | g.136517850C>G | CA375563138 | NOTCH1 | c.1343G>C (p.Arg448Pro) c.*579G>C (n.*579G>C) c.644G>C (p.Arg215Pro) c.620G>C (p.Arg207Pro) | dbSNP |
| 9 | g.136517850C>T | CA348264 | NOTCH1 | c.1343G>A (p.Arg448Gln) c.*579G>A (n.*579G>A) c.644G>A (p.Arg215Gln) c.620G>A (p.Arg207Gln) | ClinVar dbSNP |
| 9 | g.136517851G>A | CA352076 | NOTCH1 | c.1342C>T (p.Arg448Ter) c.*578C>T (n.*578C>T) c.643C>T (p.Arg215Ter) c.619C>T (p.Arg207Ter) | ClinVar dbSNP |
| 9 | g.136517851G>C | CA375563141 | NOTCH1 | c.1342C>G (p.Arg448Gly) c.*578C>G (n.*578C>G) c.643C>G (p.Arg215Gly) c.619C>G (p.Arg207Gly) | dbSNP |
| 9 | g.136517851G>T | CA467718217 | NOTCH1 | c.1342C>A (p.Arg448=) c.*578C>A (n.*578C>A) c.643C>A (p.Arg215=) c.619C>A (p.Arg207=) | dbSNP |
| 9 | g.136517855del | CA2695202257 | NOTCH1 | c.1342del (p.Arg448AspfsTer?) c.*578del (n.*578del) c.643del (p.Arg215AspfsTer?) c.619del (p.Arg207AspfsTer?) | |
| 9 | g.136517852G>A | CA467718218 | NOTCH1 | c.1341C>T (p.Pro447=) c.*577C>T (n.*577C>T) c.642C>T (p.Pro214=) c.618C>T (p.Pro206=) | |
| 9 | g.136517852G>C | CA467718219 | NOTCH1 | c.1341C>G (p.Pro447=) c.*577C>G (n.*577C>G) c.642C>G (p.Pro214=) c.618C>G (p.Pro206=) | dbSNP |
| 9 | g.136517852G>T | CA467718220 | NOTCH1 | c.1341C>A (p.Pro447=) c.*577C>A (n.*577C>A) c.642C>A (p.Pro214=) c.618C>A (p.Pro206=) | |
| 9 | g.136517853G>A | CA375563145 | NOTCH1 | c.1340C>T (p.Pro447Leu) c.*576C>T (n.*576C>T) c.641C>T (p.Pro214Leu) c.617C>T (p.Pro206Leu) | dbSNP gnomAD v4 COSMIC COSMIC |
| 9 | g.136517853G>C | CA375563144 | NOTCH1 | c.1340C>G (p.Pro447Arg) c.*576C>G (n.*576C>G) c.641C>G (p.Pro214Arg) c.617C>G (p.Pro206Arg) | |
| 9 | g.136517853G>T | CA375563143 | NOTCH1 | c.1340C>A (p.Pro447His) c.*576C>A (n.*576C>A) c.641C>A (p.Pro214His) c.617C>A (p.Pro206His) | dbSNP |
| 9 | g.136517854G>A | CA375563147 | NOTCH1 | c.1339C>T (p.Pro447Ser) c.*575C>T (n.*575C>T) c.640C>T (p.Pro214Ser) c.616C>T (p.Pro206Ser) | dbSNP |
| 9 | g.136517854G>C | CA375563150 | NOTCH1 | c.1339C>G (p.Pro447Ala) c.*575C>G (n.*575C>G) c.640C>G (p.Pro214Ala) c.616C>G (p.Pro206Ala) | |
| 9 | g.136517854G>T | CA375563149 | NOTCH1 | c.1339C>A (p.Pro447Thr) c.*575C>A (n.*575C>A) c.640C>A (p.Pro214Thr) c.616C>A (p.Pro206Thr) | dbSNP |
| 9 | g.136517855G>A | CA467718222 | NOTCH1 | c.1338C>T (p.Gly446=) c.*574C>T (n.*574C>T) c.639C>T (p.Gly213=) c.615C>T (p.Gly205=) | |
| 9 | g.136517855G>C | CA467718223 | NOTCH1 | c.1338C>G (p.Gly446=) c.*574C>G (n.*574C>G) c.639C>G (p.Gly213=) c.615C>G (p.Gly205=) | |
| 9 | g.136517855G>T | CA467718224 | NOTCH1 | c.1338C>A (p.Gly446=) c.*574C>A (n.*574C>A) c.639C>A (p.Gly213=) c.615C>A (p.Gly205=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.136517856C>A | CA375563151 | NOTCH1 | c.1337G>T (p.Gly446Val) c.*573G>T (n.*573G>T) c.638G>T (p.Gly213Val) c.614G>T (p.Gly205Val) | dbSNP |
| 9 | g.136517856C>G | CA375563153 | NOTCH1 | c.1337G>C (p.Gly446Ala) c.*573G>C (n.*573G>C) c.638G>C (p.Gly213Ala) c.614G>C (p.Gly205Ala) | dbSNP |
| 9 | g.136517856C>T | CA375563155 | NOTCH1 | c.1337G>A (p.Gly446Asp) c.*573G>A (n.*573G>A) c.638G>A (p.Gly213Asp) c.614G>A (p.Gly205Asp) | dbSNP |
| 9 | g.136517858del | CA645562534 | NOTCH1 | c.1337del (p.Gly446AlafsTer?) c.*573del (n.*573del) c.638del (p.Gly213AlafsTer?) c.614del (p.Gly205AlafsTer?) | COSMIC COSMIC |
| 9 | g.136517857C>A | CA375563157 | NOTCH1 | c.1336G>T (p.Gly446Cys) c.*572G>T (n.*572G>T) c.637G>T (p.Gly213Cys) c.613G>T (p.Gly205Cys) | ClinVar dbSNP |
| 9 | g.136517857C>G | CA375563158 | NOTCH1 | c.1336G>C (p.Gly446Arg) c.*572G>C (n.*572G>C) c.637G>C (p.Gly213Arg) c.613G>C (p.Gly205Arg) | dbSNP |
| 9 | g.136517857C>T | CA375563159 | NOTCH1 | c.1336G>A (p.Gly446Ser) c.*572G>A (n.*572G>A) c.637G>A (p.Gly213Ser) c.613G>A (p.Gly205Ser) | dbSNP |
| 9 | g.136517858C>A | CA467718225 | NOTCH1 | c.1335G>T (p.Thr445=) c.*571G>T (n.*571G>T) c.636G>T (p.Thr212=) c.612G>T (p.Thr204=) | dbSNP COSMIC |
| 9 | g.136517858C>G | CA467718226 | NOTCH1 | c.1335G>C (p.Thr445=) c.*571G>C (n.*571G>C) c.636G>C (p.Thr212=) c.612G>C (p.Thr204=) | dbSNP gnomAD v4 |
| 9 | g.136517858C>T | CA5341833 | NOTCH1 | c.1335G>A (p.Thr445=) c.*571G>A (n.*571G>A) c.636G>A (p.Thr212=) c.612G>A (p.Thr204=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517859del | CA645562535 | NOTCH1 | c.1334del (p.Thr445ArgfsTer?) c.*570del (n.*570del) c.635del (p.Thr212ArgfsTer?) c.611del (p.Thr204ArgfsTer?) | COSMIC COSMIC |
| 9 | g.136517859G>A | CA5341834 | NOTCH1 | c.1334C>T (p.Thr445Met) c.*570C>T (n.*570C>T) c.635C>T (p.Thr212Met) c.611C>T (p.Thr204Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136517859G>C | CA375563163 | NOTCH1 | c.1334C>G (p.Thr445Arg) c.*570C>G (n.*570C>G) c.635C>G (p.Thr212Arg) c.611C>G (p.Thr204Arg) | dbSNP |
| 9 | g.136517859G>T | CA375563164 | NOTCH1 | c.1334C>A (p.Thr445Lys) c.*570C>A (n.*570C>A) c.635C>A (p.Thr212Lys) c.611C>A (p.Thr204Lys) | |
| 9 | g.136517860T>A | CA375563172 | NOTCH1 | c.1333A>T (p.Thr445Ser) c.*569A>T (n.*569A>T) c.634A>T (p.Thr212Ser) c.610A>T (p.Thr204Ser) | |
| 9 | g.136517860T>C | CA375563169 | NOTCH1 | c.1333A>G (p.Thr445Ala) c.*569A>G (n.*569A>G) c.634A>G (p.Thr212Ala) c.610A>G (p.Thr204Ala) | |
| 9 | g.136517860T>G | CA375563167 | NOTCH1 | c.1333A>C (p.Thr445Pro) c.*569A>C (n.*569A>C) c.634A>C (p.Thr212Pro) c.610A>C (p.Thr204Pro) | |
| 9 | g.136517861G>A | CA467718227 | NOTCH1 | c.1332C>T (p.Tyr444=) c.*568C>T (n.*568C>T) c.633C>T (p.Tyr211=) c.609C>T (p.Tyr203=) | dbSNP |
| 9 | g.136517861G>C | CA375563175 | NOTCH1 | c.1332C>G (p.Tyr444Ter) c.*568C>G (n.*568C>G) c.633C>G (p.Tyr211Ter) c.609C>G (p.Tyr203Ter) | dbSNP |
| 9 | g.136517861G>T | CA375563178 | NOTCH1 | c.1332C>A (p.Tyr444Ter) c.*568C>A (n.*568C>A) c.633C>A (p.Tyr211Ter) c.609C>A (p.Tyr203Ter) | |
| 9 | g.136517862T>A | CA375563181 | NOTCH1 | c.1331A>T (p.Tyr444Phe) c.*567A>T (n.*567A>T) c.632A>T (p.Tyr211Phe) c.608A>T (p.Tyr203Phe) | dbSNP |
| 9 | g.136517862T>C | CA375563182 | NOTCH1 | c.1331A>G (p.Tyr444Cys) c.*567A>G (n.*567A>G) c.632A>G (p.Tyr211Cys) c.608A>G (p.Tyr203Cys) | dbSNP |
| 9 | g.136517862T>G | CA375563184 | NOTCH1 | c.1331A>C (p.Tyr444Ser) c.*567A>C (n.*567A>C) c.632A>C (p.Tyr211Ser) c.608A>C (p.Tyr203Ser) | dbSNP |
| 9 | g.136517863A>C | CA375563187 | NOTCH1 | c.1330T>G (p.Tyr444Asp) c.*566T>G (n.*566T>G) c.631T>G (p.Tyr211Asp) c.607T>G (p.Tyr203Asp) | dbSNP |
| 9 | g.136517863A>G | CA375563189 | NOTCH1 | c.1330T>C (p.Tyr444His) c.*566T>C (n.*566T>C) c.631T>C (p.Tyr211His) c.607T>C (p.Tyr203His) | dbSNP |
| 9 | g.136517863A>T | CA375563191 | NOTCH1 | c.1330T>A (p.Tyr444Asn) c.*566T>A (n.*566T>A) c.631T>A (p.Tyr211Asn) c.607T>A (p.Tyr203Asn) | dbSNP |
| 9 | g.136517864G>A | CA467718228 | NOTCH1 | c.1329C>T (p.Gly443=) c.*565C>T (n.*565C>T) c.630C>T (p.Gly210=) c.606C>T (p.Gly202=) | gnomAD v4 |
| 9 | g.136517864G>C | CA467718229 | NOTCH1 | c.1329C>G (p.Gly443=) c.*565C>G (n.*565C>G) c.630C>G (p.Gly210=) c.606C>G (p.Gly202=) | |
| 9 | g.136517864G>T | CA467718230 | NOTCH1 | c.1329C>A (p.Gly443=) c.*565C>A (n.*565C>A) c.630C>A (p.Gly210=) c.606C>A (p.Gly202=) | |
| 9 | g.136517865C>A | CA375563192 | NOTCH1 | c.1328G>T (p.Gly443Val) c.*564G>T (n.*564G>T) c.629G>T (p.Gly210Val) c.605G>T (p.Gly202Val) | |
| 9 | g.136517865C>G | CA375563194 | NOTCH1 | c.1328G>C (p.Gly443Ala) c.*564G>C (n.*564G>C) c.629G>C (p.Gly210Ala) c.605G>C (p.Gly202Ala) | |
| 9 | g.136517865C>T | CA375563196 | NOTCH1 | c.1328G>A (p.Gly443Asp) c.*564G>A (n.*564G>A) c.629G>A (p.Gly210Asp) c.605G>A (p.Gly202Asp) | COSMIC COSMIC |
| 9 | g.136517866C>A | CA375563199 | NOTCH1 | c.1327G>T (p.Gly443Cys) c.*563G>T (n.*563G>T) c.628G>T (p.Gly210Cys) c.604G>T (p.Gly202Cys) | dbSNP |
| 9 | g.136517866C>G | CA375563201 | NOTCH1 | c.1327G>C (p.Gly443Arg) c.*563G>C (n.*563G>C) c.628G>C (p.Gly210Arg) c.604G>C (p.Gly202Arg) | dbSNP |
| 9 | g.136517866C>T | CA375563198 | NOTCH1 | c.1327G>A (p.Gly443Ser) c.*563G>A (n.*563G>A) c.628G>A (p.Gly210Ser) c.604G>A (p.Gly202Ser) | COSMIC COSMIC |
| 9 | g.136517867C>A | CA375563203 | NOTCH1 | c.1326G>T (p.Gln442His) c.*562G>T (n.*562G>T) c.627G>T (p.Gln209His) c.603G>T (p.Gln201His) | |
| 9 | g.136517867C>G | CA375563206 | NOTCH1 | c.1326G>C (p.Gln442His) c.*562G>C (n.*562G>C) c.627G>C (p.Gln209His) c.603G>C (p.Gln201His) | |
| 9 | g.136517867C>T | CA467718231 | NOTCH1 | c.1326G>A (p.Gln442=) c.*562G>A (n.*562G>A) c.627G>A (p.Gln209=) c.603G>A (p.Gln201=) | |
| 9 | g.136517868T>A | CA375563209 | NOTCH1 | c.1325A>T (p.Gln442Leu) c.*561A>T (n.*561A>T) c.626A>T (p.Gln209Leu) c.602A>T (p.Gln201Leu) | dbSNP |
| 9 | g.136517868T>C | CA375563213 | NOTCH1 | c.1325A>G (p.Gln442Arg) c.*561A>G (n.*561A>G) c.626A>G (p.Gln209Arg) c.602A>G (p.Gln201Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.136517868T>G | CA375563220 | NOTCH1 | c.1325A>C (p.Gln442Pro) c.*561A>C (n.*561A>C) c.626A>C (p.Gln209Pro) c.602A>C (p.Gln201Pro) | ClinVar |
| 9 | g.136517869G>A | CA375563221 | NOTCH1 | c.1324C>T (p.Gln442Ter) c.*560C>T (n.*560C>T) c.625C>T (p.Gln209Ter) c.601C>T (p.Gln201Ter) | dbSNP COSMIC COSMIC |
| 9 | g.136517869G>C | CA375563222 | NOTCH1 | c.1324C>G (p.Gln442Glu) c.*560C>G (n.*560C>G) c.625C>G (p.Gln209Glu) c.601C>G (p.Gln201Glu) | dbSNP |
| 9 | g.136517869G>T | CA375563224 | NOTCH1 | c.1324C>A (p.Gln442Lys) c.*560C>A (n.*560C>A) c.625C>A (p.Gln209Lys) c.601C>A (p.Gln201Lys) | dbSNP |
| 9 | g.136517870C>A | CA467718234 | NOTCH1 | c.1323G>T (p.Leu441=) c.*559G>T (n.*559G>T) c.624G>T (p.Leu208=) c.600G>T (p.Leu200=) | |
| 9 | g.136517870C>G | CA467718232 | NOTCH1 | c.1323G>C (p.Leu441=) c.*559G>C (n.*559G>C) c.624G>C (p.Leu208=) c.600G>C (p.Leu200=) | dbSNP |
| 9 | g.136517870C>T | CA467718233 | NOTCH1 | c.1323G>A (p.Leu441=) c.*559G>A (n.*559G>A) c.624G>A (p.Leu208=) c.600G>A (p.Leu200=) | dbSNP gnomAD v4 |
| 9 | g.136517871A>C | CA201587574 | NOTCH1 | c.1322T>G (p.Leu441Arg) c.*558T>G (n.*558T>G) c.623T>G (p.Leu208Arg) c.599T>G (p.Leu200Arg) | dbSNP gnomAD v4 |
| 9 | g.136517871A>G | CA375563233 | NOTCH1 | c.1322T>C (p.Leu441Pro) c.*558T>C (n.*558T>C) c.623T>C (p.Leu208Pro) c.599T>C (p.Leu200Pro) | dbSNP |
| 9 | g.136517871A>T | CA375563237 | NOTCH1 | c.1322T>A (p.Leu441Gln) c.*558T>A (n.*558T>A) c.623T>A (p.Leu208Gln) c.599T>A (p.Leu200Gln) | dbSNP |
| 9 | g.136517872G>A | CA467718238 | NOTCH1 | c.1321C>T (p.Leu441=) c.*557C>T (n.*557C>T) c.622C>T (p.Leu208=) c.598C>T (p.Leu200=) | dbSNP |
| 9 | g.136517872G>C | CA375563240 | NOTCH1 | c.1321C>G (p.Leu441Val) c.*557C>G (n.*557C>G) c.622C>G (p.Leu208Val) c.598C>G (p.Leu200Val) | dbSNP |
| 9 | g.136517872G>T | CA375563242 | NOTCH1 | c.1321C>A (p.Leu441Met) c.*557C>A (n.*557C>A) c.622C>A (p.Leu208Met) c.598C>A (p.Leu200Met) | |
| 9 | g.136517873A>C | CA375563249 | NOTCH1 | c.1320T>G (p.Cys440Trp) c.*556T>G (n.*556T>G) c.621T>G (p.Cys207Trp) c.597T>G (p.Cys199Trp) | dbSNP |
| 9 | g.136517873A>G | CA467718239 | NOTCH1 | c.1320T>C (p.Cys440=) c.*556T>C (n.*556T>C) c.621T>C (p.Cys207=) c.597T>C (p.Cys199=) | |
| 9 | g.136517873A>T | CA375563246 | NOTCH1 | c.1320T>A (p.Cys440Ter) c.*556T>A (n.*556T>A) c.621T>A (p.Cys207Ter) c.597T>A (p.Cys199Ter) | dbSNP |
| 9 | g.136517874C>A | CA375563252 | NOTCH1 | c.1319G>T (p.Cys440Phe) c.*555G>T (n.*555G>T) c.620G>T (p.Cys207Phe) c.596G>T (p.Cys199Phe) | COSMIC COSMIC |
| 9 | g.136517874C>G | CA375563255 | NOTCH1 | c.1319G>C (p.Cys440Ser) c.*555G>C (n.*555G>C) c.620G>C (p.Cys207Ser) c.596G>C (p.Cys199Ser) | dbSNP COSMIC COSMIC |
| 9 | g.136517874C>T | CA375563258 | NOTCH1 | c.1319G>A (p.Cys440Tyr) c.*555G>A (n.*555G>A) c.620G>A (p.Cys207Tyr) c.596G>A (p.Cys199Tyr) | dbSNP |
| 9 | g.136517875A>C | CA375563261 | NOTCH1 | c.1318T>G (p.Cys440Gly) c.*554T>G (n.*554T>G) c.619T>G (p.Cys207Gly) c.595T>G (p.Cys199Gly) | dbSNP |
| 9 | g.136517875A>G | CA375563263 | NOTCH1 | c.1318T>C (p.Cys440Arg) c.*554T>C (n.*554T>C) c.619T>C (p.Cys207Arg) c.595T>C (p.Cys199Arg) | dbSNP |
| 9 | g.136517875A>T | CA375563265 | NOTCH1 | c.1318T>A (p.Cys440Ser) c.*554T>A (n.*554T>A) c.619T>A (p.Cys207Ser) c.595T>A (p.Cys199Ser) | dbSNP COSMIC COSMIC |
| 9 | g.136517876C>A | CA375563267 | NOTCH1 | c.1317G>T (p.Gln439His) c.*553G>T (n.*553G>T) c.618G>T (p.Gln206His) c.594G>T (p.Gln198His) | |
| 9 | g.136517876C>G | CA375563269 | NOTCH1 | c.1317G>C (p.Gln439His) c.*553G>C (n.*553G>C) c.618G>C (p.Gln206His) c.594G>C (p.Gln198His) | dbSNP |
| 9 | g.136517876C>T | CA467718241 | NOTCH1 | c.1317G>A (p.Gln439=) c.*553G>A (n.*553G>A) c.618G>A (p.Gln206=) c.594G>A (p.Gln198=) | |
| 9 | g.136517877T>A | CA375563271 | NOTCH1 | c.1316A>T (p.Gln439Leu) c.*552A>T (n.*552A>T) c.617A>T (p.Gln206Leu) c.593A>T (p.Gln198Leu) | |
| 9 | g.136517877T>C | CA375563273 | NOTCH1 | c.1316A>G (p.Gln439Arg) c.*552A>G (n.*552A>G) c.617A>G (p.Gln206Arg) c.593A>G (p.Gln198Arg) | gnomAD v4 |
| 9 | g.136517877T>G | CA375563276 | NOTCH1 | c.1316A>C (p.Gln439Pro) c.*552A>C (n.*552A>C) c.617A>C (p.Gln206Pro) c.593A>C (p.Gln198Pro) | |
| 9 | g.136517878G>A | CA375563282 | NOTCH1 | c.1315C>T (p.Gln439Ter) c.*551C>T (n.*551C>T) c.616C>T (p.Gln206Ter) c.592C>T (p.Gln198Ter) | dbSNP COSMIC COSMIC |
| 9 | g.136517878G>C | CA375563284 | NOTCH1 | c.1315C>G (p.Gln439Glu) c.*551C>G (n.*551C>G) c.616C>G (p.Gln206Glu) c.592C>G (p.Gln198Glu) | |
| 9 | g.136517878G>T | CA375563286 | NOTCH1 | c.1315C>A (p.Gln439Lys) c.*551C>A (n.*551C>A) c.616C>A (p.Gln206Lys) c.592C>A (p.Gln198Lys) | |
| 9 | g.136517879G>A | CA467718245 | NOTCH1 | c.1314C>T (p.Cys438=) c.*550C>T (n.*550C>T) c.615C>T (p.Cys205=) c.591C>T (p.Cys197=) | dbSNP |
| 9 | g.136517879G>C | CA375563292 | NOTCH1 | c.1314C>G (p.Cys438Trp) c.*550C>G (n.*550C>G) c.615C>G (p.Cys205Trp) c.591C>G (p.Cys197Trp) | dbSNP |
| 9 | g.136517879G>T | CA375563290 | NOTCH1 | c.1314C>A (p.Cys438Ter) c.*550C>A (n.*550C>A) c.615C>A (p.Cys205Ter) c.591C>A (p.Cys197Ter) | dbSNP |
| 9 | g.136517880C>A | CA375563296 | NOTCH1 | c.1313G>T (p.Cys438Phe) c.*549G>T (n.*549G>T) c.614G>T (p.Cys205Phe) c.590G>T (p.Cys197Phe) | dbSNP |
| 9 | g.136517880C>G | CA375563300 | NOTCH1 | c.1313G>C (p.Cys438Ser) c.*549G>C (n.*549G>C) c.614G>C (p.Cys205Ser) c.590G>C (p.Cys197Ser) | dbSNP |
| 9 | g.136517880C>T | CA375563298 | NOTCH1 | c.1313G>A (p.Cys438Tyr) c.*549G>A (n.*549G>A) c.614G>A (p.Cys205Tyr) c.590G>A (p.Cys197Tyr) | dbSNP |
| 9 | g.136517881A>C | CA375563303 | NOTCH1 | c.1312T>G (p.Cys438Gly) c.*548T>G (n.*548T>G) c.613T>G (p.Cys205Gly) c.589T>G (p.Cys197Gly) | dbSNP |
| 9 | g.136517881A>G | CA375563306 | NOTCH1 | c.1312T>C (p.Cys438Arg) c.*548T>C (n.*548T>C) c.613T>C (p.Cys205Arg) c.589T>C (p.Cys197Arg) | |
| 9 | g.136517881A>T | CA375563307 | NOTCH1 | c.1312T>A (p.Cys438Ser) c.*548T>A (n.*548T>A) c.613T>A (p.Cys205Ser) c.589T>A (p.Cys197Ser) | dbSNP |
| 9 | g.136517882C>A | CA375563308 | NOTCH1 | c.1311G>T (p.Glu437Asp) c.*547G>T (n.*547G>T) c.612G>T (p.Glu204Asp) c.588G>T (p.Glu196Asp) | |
| 9 | g.136517882C>G | CA375563309 | NOTCH1 | c.1311G>C (p.Glu437Asp) c.*547G>C (n.*547G>C) c.612G>C (p.Glu204Asp) c.588G>C (p.Glu196Asp) | dbSNP |
| 9 | g.136517882C>T | CA467718249 | NOTCH1 | c.1311G>A (p.Glu437=) c.*547G>A (n.*547G>A) c.612G>A (p.Glu204=) c.588G>A (p.Glu196=) | dbSNP gnomAD v4 |