Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.15180078C>A | CA9263131 | NOTCH3 | c.3321G>T (p.Met1107Ile) c.3162G>T (p.Met1054Ile) c.3165G>T (p.Met1055Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180078C= | CA2324744222 | NOTCH3 | c.3321G= (p.Met1107=) c.3162G= (p.Met1054=) c.3165G= (p.Met1055=) | |
19 | g.15180078C>G | CA404512862 | NOTCH3 | c.3321G>C (p.Met1107Ile) c.3162G>C (p.Met1054Ile) c.3165G>C (p.Met1055Ile) | |
19 | g.15180078C>T | CA404512867 | NOTCH3 | c.3321G>A (p.Met1107Ile) c.3162G>A (p.Met1054Ile) c.3165G>A (p.Met1055Ile) | |
19 | g.15180079A= | CA2324744223 | NOTCH3 | c.3320T= (p.Met1107=) c.3161T= (p.Met1054=) c.3164T= (p.Met1055=) | |
19 | g.15180079A>C | CA404512873 | NOTCH3 | c.3320T>G (p.Met1107Arg) c.3161T>G (p.Met1054Arg) c.3164T>G (p.Met1055Arg) | dbSNP |
19 | g.15180079A>G | CA404512877 | NOTCH3 | c.3320T>C (p.Met1107Thr) c.3161T>C (p.Met1054Thr) c.3164T>C (p.Met1055Thr) | dbSNP |
19 | g.15180079A>T | CA404512879 | NOTCH3 | c.3320T>A (p.Met1107Lys) c.3161T>A (p.Met1054Lys) c.3164T>A (p.Met1055Lys) | |
19 | g.15180080T>A | CA404512881 | NOTCH3 | c.3319A>T (p.Met1107Leu) c.3160A>T (p.Met1054Leu) c.3163A>T (p.Met1055Leu) | |
19 | g.15180080T>C | CA404512884 | NOTCH3 | c.3319A>G (p.Met1107Val) c.3160A>G (p.Met1054Val) c.3163A>G (p.Met1055Val) | |
19 | g.15180080T>G | CA404512887 | NOTCH3 | c.3319A>C (p.Met1107Leu) c.3160A>C (p.Met1054Leu) c.3163A>C (p.Met1055Leu) | gnomAD v4 |
19 | g.15180081G>A | CA305769920 | NOTCH3 | c.3318C>T (p.Tyr1106=) c.3159C>T (p.Tyr1053=) c.3162C>T (p.Tyr1054=) | ClinVar dbSNP gnomAD v4 |
19 | g.15180081G>C | CA404512896 | NOTCH3 | c.3318C>G (p.Tyr1106Ter) c.3159C>G (p.Tyr1053Ter) c.3162C>G (p.Tyr1054Ter) | |
19 | g.15180081G= | CA2324744224 | NOTCH3 | c.3318C= (p.Tyr1106=) c.3159C= (p.Tyr1053=) c.3162C= (p.Tyr1054=) | |
19 | g.15180081G>T | CA404512892 | NOTCH3 | c.3318C>A (p.Tyr1106Ter) c.3159C>A (p.Tyr1053Ter) c.3162C>A (p.Tyr1054Ter) | |
19 | g.15180082T>A | CA404512902 | NOTCH3 | c.3317A>T (p.Tyr1106Phe) c.3158A>T (p.Tyr1053Phe) c.3161A>T (p.Tyr1054Phe) | dbSNP |
19 | g.15180082T>C | CA404512905 | NOTCH3 | c.3317A>G (p.Tyr1106Cys) c.3158A>G (p.Tyr1053Cys) c.3161A>G (p.Tyr1054Cys) | |
19 | g.15180082T>G | CA404512907 | NOTCH3 | c.3317A>C (p.Tyr1106Ser) c.3158A>C (p.Tyr1053Ser) c.3161A>C (p.Tyr1054Ser) | |
19 | g.15180083del | CA2576654643 | NOTCH3 | c.3316del (p.Tyr1106ThrfsTer?) c.3157del (p.Tyr1053ThrfsTer?) c.3160del (p.Tyr1054ThrfsTer?) | |
19 | g.15180083A= | CA2324744225 | NOTCH3 | c.3316T= (p.Tyr1106=) c.3157T= (p.Tyr1053=) c.3160T= (p.Tyr1054=) | |
19 | g.15180083A>C | CA404512910 | NOTCH3 | c.3316T>G (p.Tyr1106Asp) c.3157T>G (p.Tyr1053Asp) c.3160T>G (p.Tyr1054Asp) | |
19 | g.15180083A>G | CA9263132 | NOTCH3 | c.3316T>C (p.Tyr1106His) c.3157T>C (p.Tyr1053His) c.3160T>C (p.Tyr1054His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180083A>T | CA404512915 | NOTCH3 | c.3316T>A (p.Tyr1106Asn) c.3157T>A (p.Tyr1053Asn) c.3160T>A (p.Tyr1054Asn) | |
19 | g.15180084G>A | CA505824169 | NOTCH3 | c.3315C>T (p.Gly1105=) c.3156C>T (p.Gly1052=) c.3159C>T (p.Gly1053=) | gnomAD v4 |
19 | g.15180084G>C | CA505824170 | NOTCH3 | c.3315C>G (p.Gly1105=) c.3156C>G (p.Gly1052=) c.3159C>G (p.Gly1053=) | |
19 | g.15180084G>T | CA505824172 | NOTCH3 | c.3315C>A (p.Gly1105=) c.3156C>A (p.Gly1052=) c.3159C>A (p.Gly1053=) | |
19 | g.15180084_15180085delinsGC | CA2324744226 | NOTCH3 | c.3314_3315delinsGC (p.Gly1105=) c.3155_3156delinsGC (p.Gly1052=) c.3158_3159delinsGC (p.Gly1053=) | |
19 | g.15180085C>A | CA404512918 | NOTCH3 | c.3314G>T (p.Gly1105Val) c.3155G>T (p.Gly1052Val) c.3158G>T (p.Gly1053Val) | |
19 | g.15180085C= | CA2324744227 | NOTCH3 | c.3314G= (p.Gly1105=) c.3155G= (p.Gly1052=) c.3158G= (p.Gly1053=) | |
19 | g.15180085C>G | CA9263133 | NOTCH3 | c.3314G>C (p.Gly1105Ala) c.3155G>C (p.Gly1052Ala) c.3158G>C (p.Gly1053Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180085C>T | CA404512921 | NOTCH3 | c.3314G>A (p.Gly1105Asp) c.3155G>A (p.Gly1052Asp) c.3158G>A (p.Gly1053Asp) | dbSNP |
19 | g.15180090dup | CA2583062771 | NOTCH3 | c.3314dup (p.Tyr1106LeufsTer4) c.3155dup (p.Tyr1053LeufsTer4) c.3158dup (p.Tyr1054LeufsTer4) | gnomAD v4 |
19 | g.15180090del | CA645600796 | NOTCH3 | c.3314del (p.Gly1105AlafsTer?) c.3155del (p.Gly1052AlafsTer?) c.3158del (p.Gly1053AlafsTer?) | dbSNP COSMIC COSMIC |
19 | g.15180089_15180090del | CA2838888414 | NOTCH3 | c.3313_3314del (p.Gly1105LeufsTer4) c.3154_3155del (p.Gly1052LeufsTer4) c.3157_3158del (p.Gly1053LeufsTer4) | |
19 | g.15180086C>A | CA404512926 | NOTCH3 | c.3313G>T (p.Gly1105Cys) c.3154G>T (p.Gly1052Cys) c.3157G>T (p.Gly1053Cys) | |
19 | g.15180086C= | CA2324744228 | NOTCH3 | c.3313G= (p.Gly1105=) c.3154G= (p.Gly1052=) c.3157G= (p.Gly1053=) | |
19 | g.15180086C>G | CA404512927 | NOTCH3 | c.3313G>C (p.Gly1105Arg) c.3154G>C (p.Gly1052Arg) c.3157G>C (p.Gly1053Arg) | |
19 | g.15180086C>T | CA404512928 | NOTCH3 | c.3313G>A (p.Gly1105Ser) c.3154G>A (p.Gly1052Ser) c.3157G>A (p.Gly1053Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180087C>A | CA505824178 | NOTCH3 | c.3312G>T (p.Gly1104=) c.3153G>T (p.Gly1051=) c.3156G>T (p.Gly1052=) | |
19 | g.15180087C= | CA2324744229 | NOTCH3 | c.3312G= (p.Gly1104=) c.3153G= (p.Gly1051=) c.3156G= (p.Gly1052=) | |
19 | g.15180087C>G | CA505824179 | NOTCH3 | c.3312G>C (p.Gly1104=) c.3153G>C (p.Gly1051=) c.3156G>C (p.Gly1052=) | |
19 | g.15180087C>T | CA505824180 | NOTCH3 | c.3312G>A (p.Gly1104=) c.3153G>A (p.Gly1051=) c.3156G>A (p.Gly1052=) | dbSNP gnomAD v4 |
19 | g.15180088C>A | CA404512934 | NOTCH3 | c.3311G>T (p.Gly1104Val) c.3152G>T (p.Gly1051Val) c.3155G>T (p.Gly1052Val) | |
19 | g.15180088C= | CA2324744230 | NOTCH3 | c.3311G= (p.Gly1104=) c.3152G= (p.Gly1051=) c.3155G= (p.Gly1052=) | |
19 | g.15180088C>G | CA404512929 | NOTCH3 | c.3311G>C (p.Gly1104Ala) c.3152G>C (p.Gly1051Ala) c.3155G>C (p.Gly1052Ala) | |
19 | g.15180088C>T | CA9263134 | NOTCH3 | c.3311G>A (p.Gly1104Glu) c.3152G>A (p.Gly1051Glu) c.3155G>A (p.Gly1052Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180089C>A | CA404512939 | NOTCH3 | c.3310G>T (p.Gly1104Trp) c.3151G>T (p.Gly1051Trp) c.3154G>T (p.Gly1052Trp) | COSMIC |
19 | g.15180089C>G | CA404512941 | NOTCH3 | c.3310G>C (p.Gly1104Arg) c.3151G>C (p.Gly1051Arg) c.3154G>C (p.Gly1052Arg) | |
19 | g.15180089C>T | CA404512950 | NOTCH3 | c.3310G>A (p.Gly1104Arg) c.3151G>A (p.Gly1051Arg) c.3154G>A (p.Gly1052Arg) | |
19 | g.15180090C>A | CA404512953 | NOTCH3 | c.3309G>T (p.Met1103Ile) c.3150G>T (p.Met1050Ile) c.3153G>T (p.Met1051Ile) | COSMIC COSMIC |
19 | g.15180090C= | CA2324744231 | NOTCH3 | c.3309G= (p.Met1103=) c.3150G= (p.Met1050=) c.3153G= (p.Met1051=) | |
19 | g.15180090C>G | CA404512957 | NOTCH3 | c.3309G>C (p.Met1103Ile) c.3150G>C (p.Met1050Ile) c.3153G>C (p.Met1051Ile) | |
19 | g.15180090C>T | CA404512961 | NOTCH3 | c.3309G>A (p.Met1103Ile) c.3150G>A (p.Met1050Ile) c.3153G>A (p.Met1051Ile) | ClinVar dbSNP gnomAD v4 |
19 | g.15180091A= | CA2324744232 | NOTCH3 | c.3308T= (p.Met1103=) c.3149T= (p.Met1050=) c.3152T= (p.Met1051=) | |
19 | g.15180091A>C | CA404512964 | NOTCH3 | c.3308T>G (p.Met1103Arg) c.3149T>G (p.Met1050Arg) c.3152T>G (p.Met1051Arg) | |
19 | g.15180091A>G | CA9263135 | NOTCH3 | c.3308T>C (p.Met1103Thr) c.3149T>C (p.Met1050Thr) c.3152T>C (p.Met1051Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180091A>T | CA404512968 | NOTCH3 | c.3308T>A (p.Met1103Lys) c.3149T>A (p.Met1050Lys) c.3152T>A (p.Met1051Lys) | |
19 | g.15180092T>A | CA404512973 | NOTCH3 | c.3307A>T (p.Met1103Leu) c.3148A>T (p.Met1050Leu) c.3151A>T (p.Met1051Leu) | dbSNP |
19 | g.15180092T>C | CA9263136 | NOTCH3 | c.3307A>G (p.Met1103Val) c.3148A>G (p.Met1050Val) c.3151A>G (p.Met1051Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180092T>G | CA404512976 | NOTCH3 | c.3307A>C (p.Met1103Leu) c.3148A>C (p.Met1050Leu) c.3151A>C (p.Met1051Leu) | |
19 | g.15180092T= | CA2324744233 | NOTCH3 | c.3307A= (p.Met1103=) c.3148A= (p.Met1050=) c.3151A= (p.Met1051=) | |
19 | g.15180093A>C | CA404512978 | NOTCH3 | c.3306T>G (p.Tyr1102Ter) c.3147T>G (p.Tyr1049Ter) c.3150T>G (p.Tyr1050Ter) | |
19 | g.15180093A>G | CA505824183 | NOTCH3 | c.3306T>C (p.Tyr1102=) c.3147T>C (p.Tyr1049=) c.3150T>C (p.Tyr1050=) | |
19 | g.15180093A>T | CA404512979 | NOTCH3 | c.3306T>A (p.Tyr1102Ter) c.3147T>A (p.Tyr1049Ter) c.3150T>A (p.Tyr1050Ter) | |
19 | g.15180094T>A | CA9263137 | NOTCH3 | c.3305A>T (p.Tyr1102Phe) c.3146A>T (p.Tyr1049Phe) c.3149A>T (p.Tyr1050Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180094T>C | CA404512986 | NOTCH3 | c.3305A>G (p.Tyr1102Cys) c.3146A>G (p.Tyr1049Cys) c.3149A>G (p.Tyr1050Cys) | gnomAD v4 |
19 | g.15180094T>G | CA404512982 | NOTCH3 | c.3305A>C (p.Tyr1102Ser) c.3146A>C (p.Tyr1049Ser) c.3149A>C (p.Tyr1050Ser) | |
19 | g.15180094T= | CA2324744234 | NOTCH3 | c.3305A= (p.Tyr1102=) c.3146A= (p.Tyr1049=) c.3149A= (p.Tyr1050=) | |
19 | g.15180095A>C | CA404512989 | NOTCH3 | c.3304T>G (p.Tyr1102Asp) c.3145T>G (p.Tyr1049Asp) c.3148T>G (p.Tyr1050Asp) | |
19 | g.15180095A>G | CA404512992 | NOTCH3 | c.3304T>C (p.Tyr1102His) c.3145T>C (p.Tyr1049His) c.3148T>C (p.Tyr1050His) | gnomAD v4 |
19 | g.15180095A>T | CA404512993 | NOTCH3 | c.3304T>A (p.Tyr1102Asn) c.3145T>A (p.Tyr1049Asn) c.3148T>A (p.Tyr1050Asn) | dbSNP |
19 | g.15180096G>A | CA505824191 | NOTCH3 | c.3303C>T (p.Gly1101=) c.3144C>T (p.Gly1048=) c.3147C>T (p.Gly1049=) | |
19 | g.15180096G>C | CA505824192 | NOTCH3 | c.3303C>G (p.Gly1101=) c.3144C>G (p.Gly1048=) c.3147C>G (p.Gly1049=) | gnomAD v4 |
19 | g.15180096G>T | CA505824194 | NOTCH3 | c.3303C>A (p.Gly1101=) c.3144C>A (p.Gly1048=) c.3147C>A (p.Gly1049=) | |
19 | g.15180097C>A | CA404512998 | NOTCH3 | c.3302G>T (p.Gly1101Val) c.3143G>T (p.Gly1048Val) c.3146G>T (p.Gly1049Val) | |
19 | g.15180097C>G | CA404513000 | NOTCH3 | c.3302G>C (p.Gly1101Ala) c.3143G>C (p.Gly1048Ala) c.3146G>C (p.Gly1049Ala) | |
19 | g.15180097C>T | CA404513001 | NOTCH3 | c.3302G>A (p.Gly1101Asp) c.3143G>A (p.Gly1048Asp) c.3146G>A (p.Gly1049Asp) | dbSNP gnomAD v4 |
19 | g.15180098C>A | CA404513002 | NOTCH3 | c.3301G>T (p.Gly1101Cys) c.3142G>T (p.Gly1048Cys) c.3145G>T (p.Gly1049Cys) | gnomAD v4 |
19 | g.15180098C= | CA2324744235 | NOTCH3 | c.3301G= (p.Gly1101=) c.3142G= (p.Gly1048=) c.3145G= (p.Gly1049=) | |
19 | g.15180098C>G | CA404513003 | NOTCH3 | c.3301G>C (p.Gly1101Arg) c.3142G>C (p.Gly1048Arg) c.3145G>C (p.Gly1049Arg) | |
19 | g.15180098C>T | CA404513005 | NOTCH3 | c.3301G>A (p.Gly1101Ser) c.3142G>A (p.Gly1048Ser) c.3145G>A (p.Gly1049Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180099A>C | CA505824201 | NOTCH3 | c.3300T>G (p.Arg1100=) c.3141T>G (p.Arg1047=) c.3144T>G (p.Arg1048=) | |
19 | g.15180099A>G | CA505824199 | NOTCH3 | c.3300T>C (p.Arg1100=) c.3141T>C (p.Arg1047=) c.3144T>C (p.Arg1048=) | |
19 | g.15180099A>T | CA505824204 | NOTCH3 | c.3300T>A (p.Arg1100=) c.3141T>A (p.Arg1047=) c.3144T>A (p.Arg1048=) | |
19 | g.15180100C>A | CA404513007 | NOTCH3 | c.3299G>T (p.Arg1100Leu) c.3140G>T (p.Arg1047Leu) c.3143G>T (p.Arg1048Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180100C= | CA2324744236 | NOTCH3 | c.3299G= (p.Arg1100=) c.3140G= (p.Arg1047=) c.3143G= (p.Arg1048=) | |
19 | g.15180100C>G | CA404513010 | NOTCH3 | c.3299G>C (p.Arg1100Pro) c.3140G>C (p.Arg1047Pro) c.3143G>C (p.Arg1048Pro) | gnomAD v4 |
19 | g.15180100C>T | CA9263138 | NOTCH3 | c.3299G>A (p.Arg1100His) c.3140G>A (p.Arg1047His) c.3143G>A (p.Arg1048His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15180101G>A | CA305769949 | NOTCH3 | c.3298C>T (p.Arg1100Cys) c.3139C>T (p.Arg1047Cys) c.3142C>T (p.Arg1048Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180101G>C | CA404513018 | NOTCH3 | c.3298C>G (p.Arg1100Gly) c.3139C>G (p.Arg1047Gly) c.3142C>G (p.Arg1048Gly) | dbSNP |
19 | g.15180101G= | CA2324744237 | NOTCH3 | c.3298C= (p.Arg1100=) c.3139C= (p.Arg1047=) c.3142C= (p.Arg1048=) | |
19 | g.15180101G>T | CA404513014 | NOTCH3 | c.3298C>A (p.Arg1100Ser) c.3139C>A (p.Arg1047Ser) c.3142C>A (p.Arg1048Ser) | |
19 | g.15180102G>A | CA505824208 | NOTCH3 | c.3297C>T (p.Cys1099=) c.3138C>T (p.Cys1046=) c.3141C>T (p.Cys1047=) | dbSNP |
19 | g.15180102G>C | CA404513025 | NOTCH3 | c.3297C>G (p.Cys1099Trp) c.3138C>G (p.Cys1046Trp) c.3141C>G (p.Cys1047Trp) | |
19 | g.15180102G>T | CA404513028 | NOTCH3 | c.3297C>A (p.Cys1099Ter) c.3138C>A (p.Cys1046Ter) c.3141C>A (p.Cys1047Ter) | |
19 | g.15180103C>A | CA404513031 | NOTCH3 | c.3296G>T (p.Cys1099Phe) c.3137G>T (p.Cys1046Phe) c.3140G>T (p.Cys1047Phe) | |
19 | g.15180103C= | CA2324744238 | NOTCH3 | c.3296G= (p.Cys1099=) c.3137G= (p.Cys1046=) c.3140G= (p.Cys1047=) | |
19 | g.15180103C>G | CA404513033 | NOTCH3 | c.3296G>C (p.Cys1099Ser) c.3137G>C (p.Cys1046Ser) c.3140G>C (p.Cys1047Ser) | |
19 | g.15180103C>T | CA404513034 | NOTCH3 | c.3296G>A (p.Cys1099Tyr) c.3137G>A (p.Cys1046Tyr) c.3140G>A (p.Cys1047Tyr) | ClinVar dbSNP gnomAD v4 |
19 | g.15180104A>C | CA404513035 | NOTCH3 | c.3295T>G (p.Cys1099Gly) c.3136T>G (p.Cys1046Gly) c.3139T>G (p.Cys1047Gly) | |
19 | g.15180104A>G | CA404513037 | NOTCH3 | c.3295T>C (p.Cys1099Arg) c.3136T>C (p.Cys1046Arg) c.3139T>C (p.Cys1047Arg) | |
19 | g.15180104A>T | CA404513042 | NOTCH3 | c.3295T>A (p.Cys1099Ser) c.3136T>A (p.Cys1046Ser) c.3139T>A (p.Cys1047Ser) | |
19 | g.15180105G>A | CA505824215 | NOTCH3 | c.3294C>T (p.Thr1098=) c.3135C>T (p.Thr1045=) c.3138C>T (p.Thr1046=) | |
19 | g.15180105G>C | CA505824211 | NOTCH3 | c.3294C>G (p.Thr1098=) c.3135C>G (p.Thr1045=) c.3138C>G (p.Thr1046=) | |
19 | g.15180105G= | CA2324744239 | NOTCH3 | c.3294C= (p.Thr1098=) c.3135C= (p.Thr1045=) c.3138C= (p.Thr1046=) | |
19 | g.15180105G>T | CA9263139 | NOTCH3 | c.3294C>A (p.Thr1098=) c.3135C>A (p.Thr1045=) c.3138C>A (p.Thr1046=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180106G>A | CA404513045 | NOTCH3 | c.3293C>T (p.Thr1098Ile) c.3134C>T (p.Thr1045Ile) c.3137C>T (p.Thr1046Ile) | gnomAD v4 |
19 | g.15180106G>C | CA404513049 | NOTCH3 | c.3293C>G (p.Thr1098Ser) c.3134C>G (p.Thr1045Ser) c.3137C>G (p.Thr1046Ser) | dbSNP |
19 | g.15180106G= | CA2324744240 | NOTCH3 | c.3293C= (p.Thr1098=) c.3134C= (p.Thr1045=) c.3137C= (p.Thr1046=) | |
19 | g.15180106G>T | CA9263140 | NOTCH3 | c.3293C>A (p.Thr1098Asn) c.3134C>A (p.Thr1045Asn) c.3137C>A (p.Thr1046Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180107T>A | CA404513053 | NOTCH3 | c.3292A>T (p.Thr1098Ser) c.3133A>T (p.Thr1045Ser) c.3136A>T (p.Thr1046Ser) | dbSNP |
19 | g.15180107T>C | CA404513057 | NOTCH3 | c.3292A>G (p.Thr1098Ala) c.3133A>G (p.Thr1045Ala) c.3136A>G (p.Thr1046Ala) | |
19 | g.15180107T>G | CA404513058 | NOTCH3 | c.3292A>C (p.Thr1098Pro) c.3133A>C (p.Thr1045Pro) c.3136A>C (p.Thr1046Pro) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180107T= | CA2324744241 | NOTCH3 | c.3292A= (p.Thr1098=) c.3133A= (p.Thr1045=) c.3136A= (p.Thr1046=) | |
19 | g.15180108C>A | CA9263141 | NOTCH3 | c.3291G>T (p.Gly1097=) c.3132G>T (p.Gly1044=) c.3135G>T (p.Gly1045=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180108C= | CA2324744242 | NOTCH3 | c.3291G= (p.Gly1097=) c.3132G= (p.Gly1044=) c.3135G= (p.Gly1045=) | |
19 | g.15180108C>G | CA505824222 | NOTCH3 | c.3291G>C (p.Gly1097=) c.3132G>C (p.Gly1044=) c.3135G>C (p.Gly1045=) | |
19 | g.15180108C>T | CA505824223 | NOTCH3 | c.3291G>A (p.Gly1097=) c.3132G>A (p.Gly1044=) c.3135G>A (p.Gly1045=) | |
19 | g.15180113dup | CA2813714774 | NOTCH3 | c.3291dup (p.Thr1098AspfsTer12) c.3132dup (p.Thr1045AspfsTer12) c.3135dup (p.Thr1046AspfsTer12) | |
19 | g.15180113del | CA505824225 | NOTCH3 | c.3291del (p.Thr1098ProfsTer?) c.3132del (p.Thr1045ProfsTer?) c.3135del (p.Thr1046ProfsTer?) | COSMIC COSMIC |
19 | g.15180109C>A | CA404513063 | NOTCH3 | c.3290G>T (p.Gly1097Val) c.3131G>T (p.Gly1044Val) c.3134G>T (p.Gly1045Val) | |
19 | g.15180109C>G | CA404513066 | NOTCH3 | c.3290G>C (p.Gly1097Ala) c.3131G>C (p.Gly1044Ala) c.3134G>C (p.Gly1045Ala) | |
19 | g.15180109C>T | CA404513070 | NOTCH3 | c.3290G>A (p.Gly1097Glu) c.3131G>A (p.Gly1044Glu) c.3134G>A (p.Gly1045Glu) | |
19 | g.15180110C>A | CA404513073 | NOTCH3 | c.3289G>T (p.Gly1097Trp) c.3130G>T (p.Gly1044Trp) c.3133G>T (p.Gly1045Trp) | |
19 | g.15180110C= | CA2324744243 | NOTCH3 | c.3289G= (p.Gly1097=) c.3130G= (p.Gly1044=) c.3133G= (p.Gly1045=) | |
19 | g.15180110C>G | CA404513075 | NOTCH3 | c.3289G>C (p.Gly1097Arg) c.3130G>C (p.Gly1044Arg) c.3133G>C (p.Gly1045Arg) | |
19 | g.15180110C>T | CA9263142 | NOTCH3 | c.3289G>A (p.Gly1097Arg) c.3130G>A (p.Gly1044Arg) c.3133G>A (p.Gly1045Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180111C>A | CA505824230 | NOTCH3 | c.3288G>T (p.Gly1096=) c.3129G>T (p.Gly1043=) c.3132G>T (p.Gly1044=) | COSMIC COSMIC |
19 | g.15180111C>G | CA505824232 | NOTCH3 | c.3288G>C (p.Gly1096=) c.3129G>C (p.Gly1043=) c.3132G>C (p.Gly1044=) | |
19 | g.15180111C>T | CA505824234 | NOTCH3 | c.3288G>A (p.Gly1096=) c.3129G>A (p.Gly1043=) c.3132G>A (p.Gly1044=) | |
19 | g.15180112C>A | CA9263143 | NOTCH3 | c.3287G>T (p.Gly1096Val) c.3128G>T (p.Gly1043Val) c.3131G>T (p.Gly1044Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180112C= | CA2324744244 | NOTCH3 | c.3287G= (p.Gly1096=) c.3128G= (p.Gly1043=) c.3131G= (p.Gly1044=) | |
19 | g.15180112C>G | CA404513082 | NOTCH3 | c.3287G>C (p.Gly1096Ala) c.3128G>C (p.Gly1043Ala) c.3131G>C (p.Gly1044Ala) | |
19 | g.15180112C>T | CA404513085 | NOTCH3 | c.3287G>A (p.Gly1096Glu) c.3128G>A (p.Gly1043Glu) c.3131G>A (p.Gly1044Glu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180113C>A | CA404513092 | NOTCH3 | c.3286G>T (p.Gly1096Trp) c.3127G>T (p.Gly1043Trp) c.3130G>T (p.Gly1044Trp) | |
19 | g.15180113C= | CA2324744245 | NOTCH3 | c.3286G= (p.Gly1096=) c.3127G= (p.Gly1043=) c.3130G= (p.Gly1044=) | |
19 | g.15180113C>G | CA404513089 | NOTCH3 | c.3286G>C (p.Gly1096Arg) c.3127G>C (p.Gly1043Arg) c.3130G>C (p.Gly1044Arg) | |
19 | g.15180113C>T | CA404513088 | NOTCH3 | c.3286G>A (p.Gly1096Arg) c.3127G>A (p.Gly1043Arg) c.3130G>A (p.Gly1044Arg) | dbSNP gnomAD v4 |
19 | g.15180114A= | CA2324744246 | NOTCH3 | c.3285T= (p.His1095=) c.3126T= (p.His1042=) c.3129T= (p.His1043=) | |
19 | g.15180114A>C | CA404513094 | NOTCH3 | c.3285T>G (p.His1095Gln) c.3126T>G (p.His1042Gln) c.3129T>G (p.His1043Gln) | |
19 | g.15180114A>G | CA505824236 | NOTCH3 | c.3285T>C (p.His1095=) c.3126T>C (p.His1042=) c.3129T>C (p.His1043=) | dbSNP |
19 | g.15180114A>T | CA9263144 | NOTCH3 | c.3285T>A (p.His1095Gln) c.3126T>A (p.His1042Gln) c.3129T>A (p.His1043Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180115T>A | CA404513097 | NOTCH3 | c.3284A>T (p.His1095Leu) c.3125A>T (p.His1042Leu) c.3128A>T (p.His1043Leu) | |
19 | g.15180115T>C | CA404513099 | NOTCH3 | c.3284A>G (p.His1095Arg) c.3125A>G (p.His1042Arg) c.3128A>G (p.His1043Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180115T>G | CA404513100 | NOTCH3 | c.3284A>C (p.His1095Pro) c.3125A>C (p.His1042Pro) c.3128A>C (p.His1043Pro) | |
19 | g.15180115T= | CA2324744247 | NOTCH3 | c.3284A= (p.His1095=) c.3125A= (p.His1042=) c.3128A= (p.His1043=) | |
19 | g.15180116G>A | CA404513103 | NOTCH3 | c.3283C>T (p.His1095Tyr) c.3124C>T (p.His1042Tyr) c.3127C>T (p.His1043Tyr) | |
19 | g.15180116G>C | CA404513106 | NOTCH3 | c.3283C>G (p.His1095Asp) c.3124C>G (p.His1042Asp) c.3127C>G (p.His1043Asp) | |
19 | g.15180116G>T | CA404513109 | NOTCH3 | c.3283C>A (p.His1095Asn) c.3124C>A (p.His1042Asn) c.3127C>A (p.His1043Asn) | |
19 | g.15180117C>A | CA404513122 | NOTCH3 | c.3282G>T (p.Gln1094His) c.3123G>T (p.Gln1041His) c.3126G>T (p.Gln1042His) | dbSNP |
19 | g.15180117C= | CA2324744248 | NOTCH3 | c.3282G= (p.Gln1094=) c.3123G= (p.Gln1041=) c.3126G= (p.Gln1042=) | |
19 | g.15180117C>G | CA404513124 | NOTCH3 | c.3282G>C (p.Gln1094His) c.3123G>C (p.Gln1041His) c.3126G>C (p.Gln1042His) | |
19 | g.15180117C>T | CA505824243 | NOTCH3 | c.3282G>A (p.Gln1094=) c.3123G>A (p.Gln1041=) c.3126G>A (p.Gln1042=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180118T>A | CA404513127 | NOTCH3 | c.3281A>T (p.Gln1094Leu) c.3122A>T (p.Gln1041Leu) c.3125A>T (p.Gln1042Leu) | |
19 | g.15180118T>C | CA404513130 | NOTCH3 | c.3281A>G (p.Gln1094Arg) c.3122A>G (p.Gln1041Arg) c.3125A>G (p.Gln1042Arg) | |
19 | g.15180118T>G | CA404513133 | NOTCH3 | c.3281A>C (p.Gln1094Pro) c.3122A>C (p.Gln1041Pro) c.3125A>C (p.Gln1042Pro) | |
19 | g.15180119G>A | CA404513142 | NOTCH3 | c.3280C>T (p.Gln1094Ter) c.3121C>T (p.Gln1041Ter) c.3124C>T (p.Gln1042Ter) | dbSNP COSMIC COSMIC |
19 | g.15180119G>C | CA404513144 | NOTCH3 | c.3280C>G (p.Gln1094Glu) c.3121C>G (p.Gln1041Glu) c.3124C>G (p.Gln1042Glu) | |
19 | g.15180119G>T | CA404513135 | NOTCH3 | c.3280C>A (p.Gln1094Lys) c.3121C>A (p.Gln1041Lys) c.3124C>A (p.Gln1042Lys) | |
19 | g.15180120G>A | CA505824249 | NOTCH3 | c.3279C>T (p.Cys1093=) c.3120C>T (p.Cys1040=) c.3123C>T (p.Cys1041=) | dbSNP |
19 | g.15180120G>C | CA404513146 | NOTCH3 | c.3279C>G (p.Cys1093Trp) c.3120C>G (p.Cys1040Trp) c.3123C>G (p.Cys1041Trp) | dbSNP |
19 | g.15180120G>T | CA404513145 | NOTCH3 | c.3279C>A (p.Cys1093Ter) c.3120C>A (p.Cys1040Ter) c.3123C>A (p.Cys1041Ter) | |
19 | g.15180121C>A | CA404513154 | NOTCH3 | c.3278G>T (p.Cys1093Phe) c.3119G>T (p.Cys1040Phe) c.3122G>T (p.Cys1041Phe) | |
19 | g.15180121C= | CA2324744249 | NOTCH3 | c.3278G= (p.Cys1093=) c.3119G= (p.Cys1040=) c.3122G= (p.Cys1041=) | |
19 | g.15180121C>G | CA404513149 | NOTCH3 | c.3278G>C (p.Cys1093Ser) c.3119G>C (p.Cys1040Ser) c.3122G>C (p.Cys1041Ser) | |
19 | g.15180121C>T | CA404513152 | NOTCH3 | c.3278G>A (p.Cys1093Tyr) c.3119G>A (p.Cys1040Tyr) c.3122G>A (p.Cys1041Tyr) | dbSNP gnomAD v2 |
19 | g.15180122A>C | CA404513161 | NOTCH3 | c.3277T>G (p.Cys1093Gly) c.3118T>G (p.Cys1040Gly) c.3121T>G (p.Cys1041Gly) | |
19 | g.15180122A>G | CA404513165 | NOTCH3 | c.3277T>C (p.Cys1093Arg) c.3118T>C (p.Cys1040Arg) c.3121T>C (p.Cys1041Arg) | |
19 | g.15180122A>T | CA404513169 | NOTCH3 | c.3277T>A (p.Cys1093Ser) c.3118T>A (p.Cys1040Ser) c.3121T>A (p.Cys1041Ser) | |
19 | g.15180123G>A | CA505824255 | NOTCH3 | c.3276C>T (p.Pro1092=) c.3117C>T (p.Pro1039=) c.3120C>T (p.Pro1040=) | dbSNP |
19 | g.15180123G>C | CA9263145 | NOTCH3 | c.3276C>G (p.Pro1092=) c.3117C>G (p.Pro1039=) c.3120C>G (p.Pro1040=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180123G= | CA2324744250 | NOTCH3 | c.3276C= (p.Pro1092=) c.3117C= (p.Pro1039=) c.3120C= (p.Pro1040=) | |
19 | g.15180123G>T | CA505824260 | NOTCH3 | c.3276C>A (p.Pro1092=) c.3117C>A (p.Pro1039=) c.3120C>A (p.Pro1040=) | |
19 | g.15180124G>A | CA404513176 | NOTCH3 | c.3275C>T (p.Pro1092Leu) c.3116C>T (p.Pro1039Leu) c.3119C>T (p.Pro1040Leu) | |
19 | g.15180124G>C | CA404513178 | NOTCH3 | c.3275C>G (p.Pro1092Arg) c.3116C>G (p.Pro1039Arg) c.3119C>G (p.Pro1040Arg) | |
19 | g.15180124G>T | CA404513180 | NOTCH3 | c.3275C>A (p.Pro1092His) c.3116C>A (p.Pro1039His) c.3119C>A (p.Pro1040His) | |
19 | g.15180125G>A | CA404513182 | NOTCH3 | c.3274C>T (p.Pro1092Ser) c.3115C>T (p.Pro1039Ser) c.3118C>T (p.Pro1040Ser) | dbSNP |
19 | g.15180125G>C | CA404513185 | NOTCH3 | c.3274C>G (p.Pro1092Ala) c.3115C>G (p.Pro1039Ala) c.3118C>G (p.Pro1040Ala) | |
19 | g.15180125G>T | CA404513193 | NOTCH3 | c.3274C>A (p.Pro1092Thr) c.3115C>A (p.Pro1039Thr) c.3118C>A (p.Pro1040Thr) | |
19 | g.15180126C>A | CA404513209 | NOTCH3 | c.3273G>T (p.Gln1091His) c.3114G>T (p.Gln1038His) c.3117G>T (p.Gln1039His) | |
19 | g.15180126C>G | CA404513204 | NOTCH3 | c.3273G>C (p.Gln1091His) c.3114G>C (p.Gln1038His) c.3117G>C (p.Gln1039His) | dbSNP |
19 | g.15180126C>T | CA505824263 | NOTCH3 | c.3273G>A (p.Gln1091=) c.3114G>A (p.Gln1038=) c.3117G>A (p.Gln1039=) | |
19 | g.15180127T>A | CA404513212 | NOTCH3 | c.3272A>T (p.Gln1091Leu) c.3113A>T (p.Gln1038Leu) c.3116A>T (p.Gln1039Leu) | |
19 | g.15180127T>C | CA404513214 | NOTCH3 | c.3272A>G (p.Gln1091Arg) c.3113A>G (p.Gln1038Arg) c.3116A>G (p.Gln1039Arg) | |
19 | g.15180127T>G | CA404513218 | NOTCH3 | c.3272A>C (p.Gln1091Pro) c.3113A>C (p.Gln1038Pro) c.3116A>C (p.Gln1039Pro) | |
19 | g.15180128G>A | CA404513220 | NOTCH3 | c.3271C>T (p.Gln1091Ter) c.3112C>T (p.Gln1038Ter) c.3115C>T (p.Gln1039Ter) | |
19 | g.15180128G>C | CA404513225 | NOTCH3 | c.3271C>G (p.Gln1091Glu) c.3112C>G (p.Gln1038Glu) c.3115C>G (p.Gln1039Glu) | |
19 | g.15180128G>T | CA404513228 | NOTCH3 | c.3271C>A (p.Gln1091Lys) c.3112C>A (p.Gln1038Lys) c.3115C>A (p.Gln1039Lys) | |
19 | g.15180129G>A | CA505824270 | NOTCH3 | c.3270C>T (p.Ala1090=) c.3111C>T (p.Ala1037=) c.3114C>T (p.Ala1038=) | dbSNP gnomAD v4 |
19 | g.15180129G>C | CA505824273 | NOTCH3 | c.3270C>G (p.Ala1090=) c.3111C>G (p.Ala1037=) c.3114C>G (p.Ala1038=) | |
19 | g.15180129G>T | CA505824274 | NOTCH3 | c.3270C>A (p.Ala1090=) c.3111C>A (p.Ala1037=) c.3114C>A (p.Ala1038=) | |
19 | g.15180130G>A | CA9263146 | NOTCH3 | c.3269C>T (p.Ala1090Val) c.3110C>T (p.Ala1037Val) c.3113C>T (p.Ala1038Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180130G>C | CA305769975 | NOTCH3 | c.3269C>G (p.Ala1090Gly) c.3110C>G (p.Ala1037Gly) c.3113C>G (p.Ala1038Gly) | dbSNP |
19 | g.15180130G= | CA2324744251 | NOTCH3 | c.3269C= (p.Ala1090=) c.3110C= (p.Ala1037=) c.3113C= (p.Ala1038=) | |
19 | g.15180130G>T | CA404513236 | NOTCH3 | c.3269C>A (p.Ala1090Asp) c.3110C>A (p.Ala1037Asp) c.3113C>A (p.Ala1038Asp) | gnomAD v4 |
19 | g.15180131C>A | CA404513237 | NOTCH3 | c.3268G>T (p.Ala1090Ser) c.3109G>T (p.Ala1037Ser) c.3112G>T (p.Ala1038Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180131C= | CA2324744252 | NOTCH3 | c.3268G= (p.Ala1090=) c.3109G= (p.Ala1037=) c.3112G= (p.Ala1038=) | |
19 | g.15180131C>G | CA404513239 | NOTCH3 | c.3268G>C (p.Ala1090Pro) c.3109G>C (p.Ala1037Pro) c.3112G>C (p.Ala1038Pro) | dbSNP |
19 | g.15180131C>T | CA404513241 | NOTCH3 | c.3268G>A (p.Ala1090Thr) c.3109G>A (p.Ala1037Thr) c.3112G>A (p.Ala1038Thr) | gnomAD v4 |
19 | g.15180132C>A | CA404513244 | NOTCH3 | c.3267G>T (p.Leu1089Phe) c.3108G>T (p.Leu1036Phe) c.3111G>T (p.Leu1037Phe) | |
19 | g.15180132C>G | CA404513243 | NOTCH3 | c.3267G>C (p.Leu1089Phe) c.3108G>C (p.Leu1036Phe) c.3111G>C (p.Leu1037Phe) | dbSNP |
19 | g.15180132C>T | CA505824280 | NOTCH3 | c.3267G>A (p.Leu1089=) c.3108G>A (p.Leu1036=) c.3111G>A (p.Leu1037=) | |
19 | g.15180133A>C | CA404513245 | NOTCH3 | c.3266T>G (p.Leu1089Trp) c.3107T>G (p.Leu1036Trp) c.3110T>G (p.Leu1037Trp) | |
19 | g.15180133A>G | CA404513246 | NOTCH3 | c.3266T>C (p.Leu1089Ser) c.3107T>C (p.Leu1036Ser) c.3110T>C (p.Leu1037Ser) | |
19 | g.15180133A>T | CA404513248 | NOTCH3 | c.3266T>A (p.Leu1089Ter) c.3107T>A (p.Leu1036Ter) c.3110T>A (p.Leu1037Ter) | |
19 | g.15180134A= | CA2324744253 | NOTCH3 | c.3265T= (p.Leu1089=) c.3106T= (p.Leu1036=) c.3109T= (p.Leu1037=) | |
19 | g.15180134A>C | CA404513250 | NOTCH3 | c.3265T>G (p.Leu1089Val) c.3106T>G (p.Leu1036Val) c.3109T>G (p.Leu1037Val) | |
19 | g.15180134A>G | CA505824283 | NOTCH3 | c.3265T>C (p.Leu1089=) c.3106T>C (p.Leu1036=) c.3109T>C (p.Leu1037=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180134A>T | CA404513252 | NOTCH3 | c.3265T>A (p.Leu1089Met) c.3106T>A (p.Leu1036Met) c.3109T>A (p.Leu1037Met) | |
19 | g.15180135G>A | CA505824285 | NOTCH3 | c.3264C>T (p.Cys1088=) c.3105C>T (p.Cys1035=) c.3108C>T (p.Cys1036=) | gnomAD v4 |
19 | g.15180135G>C | CA404513255 | NOTCH3 | c.3264C>G (p.Cys1088Trp) c.3105C>G (p.Cys1035Trp) c.3108C>G (p.Cys1036Trp) | |
19 | g.15180135G>T | CA404513256 | NOTCH3 | c.3264C>A (p.Cys1088Ter) c.3105C>A (p.Cys1035Ter) c.3108C>A (p.Cys1036Ter) | |
19 | g.15180136C>A | CA404513259 | NOTCH3 | c.3263G>T (p.Cys1088Phe) c.3104G>T (p.Cys1035Phe) c.3107G>T (p.Cys1036Phe) | |
19 | g.15180136C>G | CA404513267 | NOTCH3 | c.3263G>C (p.Cys1088Ser) c.3104G>C (p.Cys1035Ser) c.3107G>C (p.Cys1036Ser) | |
19 | g.15180136C>T | CA404513261 | NOTCH3 | c.3263G>A (p.Cys1088Tyr) c.3104G>A (p.Cys1035Tyr) c.3107G>A (p.Cys1036Tyr) | dbSNP |
19 | g.15180137A>C | CA404513268 | NOTCH3 | c.3262T>G (p.Cys1088Gly) c.3103T>G (p.Cys1035Gly) c.3106T>G (p.Cys1036Gly) | |
19 | g.15180137A>G | CA404513270 | NOTCH3 | c.3262T>C (p.Cys1088Arg) c.3103T>C (p.Cys1035Arg) c.3106T>C (p.Cys1036Arg) | |
19 | g.15180137A>T | CA404513271 | NOTCH3 | c.3262T>A (p.Cys1088Ser) c.3103T>A (p.Cys1035Ser) c.3106T>A (p.Cys1036Ser) | |
19 | g.15180138G>A | CA9263147 | NOTCH3 | c.3261C>T (p.Pro1087=) c.3102C>T (p.Pro1034=) c.3105C>T (p.Pro1035=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180138G>C | CA505824287 | NOTCH3 | c.3261C>G (p.Pro1087=) c.3102C>G (p.Pro1034=) c.3105C>G (p.Pro1035=) | |
19 | g.15180138G= | CA2324744254 | NOTCH3 | c.3261C= (p.Pro1087=) c.3102C= (p.Pro1034=) c.3105C= (p.Pro1035=) | |
19 | g.15180138G>T | CA505824288 | NOTCH3 | c.3261C>A (p.Pro1087=) c.3102C>A (p.Pro1034=) c.3105C>A (p.Pro1035=) | |
19 | g.15180139G>A | CA404513274 | NOTCH3 | c.3260C>T (p.Pro1087Leu) c.3101C>T (p.Pro1034Leu) c.3104C>T (p.Pro1035Leu) | |
19 | g.15180139G>C | CA404513278 | NOTCH3 | c.3260C>G (p.Pro1087Arg) c.3101C>G (p.Pro1034Arg) c.3104C>G (p.Pro1035Arg) | |
19 | g.15180139G>T | CA404513276 | NOTCH3 | c.3260C>A (p.Pro1087His) c.3101C>A (p.Pro1034His) c.3104C>A (p.Pro1035His) | |
19 | g.15180140G>A | CA404513280 | NOTCH3 | c.3259C>T (p.Pro1087Ser) c.3100C>T (p.Pro1034Ser) c.3103C>T (p.Pro1035Ser) | gnomAD v4 COSMIC COSMIC |
19 | g.15180140G>C | CA404513281 | NOTCH3 | c.3259C>G (p.Pro1087Ala) c.3100C>G (p.Pro1034Ala) c.3103C>G (p.Pro1035Ala) | |
19 | g.15180140G>T | CA404513287 | NOTCH3 | c.3259C>A (p.Pro1087Thr) c.3100C>A (p.Pro1034Thr) c.3103C>A (p.Pro1035Thr) | |
19 | g.15180141G>A | CA505824291 | NOTCH3 | c.3258C>T (p.Asp1086=) c.3099C>T (p.Asp1033=) c.3102C>T (p.Asp1034=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180141G>C | CA404513289 | NOTCH3 | c.3258C>G (p.Asp1086Glu) c.3099C>G (p.Asp1033Glu) c.3102C>G (p.Asp1034Glu) | |
19 | g.15180141G= | CA2324744255 | NOTCH3 | c.3258C= (p.Asp1086=) c.3099C= (p.Asp1033=) c.3102C= (p.Asp1034=) | |
19 | g.15180141G>T | CA404513292 | NOTCH3 | c.3258C>A (p.Asp1086Glu) c.3099C>A (p.Asp1033Glu) c.3102C>A (p.Asp1034Glu) | gnomAD v4 |
19 | g.15180142T>A | CA404513294 | NOTCH3 | c.3257A>T (p.Asp1086Val) c.3098A>T (p.Asp1033Val) c.3101A>T (p.Asp1034Val) | |
19 | g.15180142T>C | CA404513296 | NOTCH3 | c.3257A>G (p.Asp1086Gly) c.3098A>G (p.Asp1033Gly) c.3101A>G (p.Asp1034Gly) | |
19 | g.15180142T>G | CA404513298 | NOTCH3 | c.3257A>C (p.Asp1086Ala) c.3098A>C (p.Asp1033Ala) c.3101A>C (p.Asp1034Ala) | dbSNP |
19 | g.15180142T= | CA2324744256 | NOTCH3 | c.3257A= (p.Asp1086=) c.3098A= (p.Asp1033=) c.3101A= (p.Asp1034=) | |
19 | g.15180143C>A | CA404513303 | NOTCH3 | c.3256G>T (p.Asp1086Tyr) c.3097G>T (p.Asp1033Tyr) c.3100G>T (p.Asp1034Tyr) | |
19 | g.15180143C= | CA2324744257 | NOTCH3 | c.3256G= (p.Asp1086=) c.3097G= (p.Asp1033=) c.3100G= (p.Asp1034=) | |
19 | g.15180143C>G | CA9263148 | NOTCH3 | c.3256G>C (p.Asp1086His) c.3097G>C (p.Asp1033His) c.3100G>C (p.Asp1034His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15180143C>T | CA10651576 | NOTCH3 | c.3256G>A (p.Asp1086Asn) c.3097G>A (p.Asp1033Asn) c.3100G>A (p.Asp1034Asn) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
19 | g.15180144C>A | CA505824293 | NOTCH3 | c.3255G>T (p.Val1085=) c.3096G>T (p.Val1032=) c.3099G>T (p.Val1033=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.15180144C= | CA2324744258 | NOTCH3 | c.3255G= (p.Val1085=) c.3096G= (p.Val1032=) c.3099G= (p.Val1033=) | |
19 | g.15180144C>G | CA505824294 | NOTCH3 | c.3255G>C (p.Val1085=) c.3096G>C (p.Val1032=) c.3099G>C (p.Val1033=) | |
19 | g.15180144C>T | CA505824295 | NOTCH3 | c.3255G>A (p.Val1085=) c.3096G>A (p.Val1032=) c.3099G>A (p.Val1033=) | |
19 | g.15180145A= | CA2324744259 | NOTCH3 | c.3254T= (p.Val1085=) c.3095T= (p.Val1032=) c.3098T= (p.Val1033=) | |
19 | g.15180145A>C | CA404513325 | NOTCH3 | c.3254T>G (p.Val1085Gly) c.3095T>G (p.Val1032Gly) c.3098T>G (p.Val1033Gly) | dbSNP COSMIC COSMIC |
19 | g.15180145A>G | CA404513327 | NOTCH3 | c.3254T>C (p.Val1085Ala) c.3095T>C (p.Val1032Ala) c.3098T>C (p.Val1033Ala) | |
19 | g.15180145A>T | CA404513323 | NOTCH3 | c.3254T>A (p.Val1085Glu) c.3095T>A (p.Val1032Glu) c.3098T>A (p.Val1033Glu) | dbSNP |
19 | g.15180146C>A | CA404513330 | NOTCH3 | c.3253G>T (p.Val1085Leu) c.3094G>T (p.Val1032Leu) c.3097G>T (p.Val1033Leu) | gnomAD v4 |
19 | g.15180146C= | CA2324744260 | NOTCH3 | c.3253G= (p.Val1085=) c.3094G= (p.Val1032=) c.3097G= (p.Val1033=) | |
19 | g.15180146C>G | CA404513328 | NOTCH3 | c.3253G>C (p.Val1085Leu) c.3094G>C (p.Val1032Leu) c.3097G>C (p.Val1033Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15180146C>T | CA404513329 | NOTCH3 | c.3253G>A (p.Val1085Met) c.3094G>A (p.Val1032Met) c.3097G>A (p.Val1033Met) | dbSNP |
19 | g.15180147C>A | CA404513334 | NOTCH3 | c.3252G>T (p.Glu1084Asp) c.3093G>T (p.Glu1031Asp) c.3096G>T (p.Glu1032Asp) | |
19 | g.15180147C= | CA2324744261 | NOTCH3 | c.3252G= (p.Glu1084=) c.3093G= (p.Glu1031=) c.3096G= (p.Glu1032=) | |
19 | g.15180147C>G | CA404513341 | NOTCH3 | c.3252G>C (p.Glu1084Asp) c.3093G>C (p.Glu1031Asp) c.3096G>C (p.Glu1032Asp) | |
19 | g.15180147C>T | CA9263149 | NOTCH3 | c.3252G>A (p.Glu1084=) c.3093G>A (p.Glu1031=) c.3096G>A (p.Glu1032=) | dbSNP ExAC |
19 | g.15180148T>A | CA404513357 | NOTCH3 | c.3251A>T (p.Glu1084Val) c.3092A>T (p.Glu1031Val) c.3095A>T (p.Glu1032Val) | |
19 | g.15180148T>C | CA404513359 | NOTCH3 | c.3251A>G (p.Glu1084Gly) c.3092A>G (p.Glu1031Gly) c.3095A>G (p.Glu1032Gly) | |
19 | g.15180148T>G | CA404513361 | NOTCH3 | c.3251A>C (p.Glu1084Ala) c.3092A>C (p.Glu1031Ala) c.3095A>C (p.Glu1032Ala) | |
19 | g.15180149C>A | CA404513362 | NOTCH3 | c.3250G>T (p.Glu1084Ter) c.3091G>T (p.Glu1031Ter) c.3094G>T (p.Glu1032Ter) | |
19 | g.15180149C>G | CA404513364 | NOTCH3 | c.3250G>C (p.Glu1084Gln) c.3091G>C (p.Glu1031Gln) c.3094G>C (p.Glu1032Gln) | |
19 | g.15180149C>T | CA404513368 | NOTCH3 | c.3250G>A (p.Glu1084Lys) c.3091G>A (p.Glu1031Lys) c.3094G>A (p.Glu1032Lys) | |
19 | g.15180150C>A | CA404513372 | NOTCH3 | c.3249G>T (p.Gln1083His) c.3090G>T (p.Gln1030His) c.3093G>T (p.Gln1031His) | |
19 | g.15180150C>G | CA404513373 | NOTCH3 | c.3249G>C (p.Gln1083His) c.3090G>C (p.Gln1030His) c.3093G>C (p.Gln1031His) | gnomAD v4 |
19 | g.15180150C>T | CA505824309 | NOTCH3 | c.3249G>A (p.Gln1083=) c.3090G>A (p.Gln1030=) c.3093G>A (p.Gln1031=) | |
19 | g.15180151T>A | CA404513378 | NOTCH3 | c.3248A>T (p.Gln1083Leu) c.3089A>T (p.Gln1030Leu) c.3092A>T (p.Gln1031Leu) | |
19 | g.15180151T>C | CA9263150 | NOTCH3 | c.3248A>G (p.Gln1083Arg) c.3089A>G (p.Gln1030Arg) c.3092A>G (p.Gln1031Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180151T>G | CA404513374 | NOTCH3 | c.3248A>C (p.Gln1083Pro) c.3089A>C (p.Gln1030Pro) c.3092A>C (p.Gln1031Pro) | |
19 | g.15180151T= | CA2324744262 | NOTCH3 | c.3248A= (p.Gln1083=) c.3089A= (p.Gln1030=) c.3092A= (p.Gln1031=) | |
19 | g.15180152G>A | CA404513381 | NOTCH3 | c.3247C>T (p.Gln1083Ter) c.3088C>T (p.Gln1030Ter) c.3091C>T (p.Gln1031Ter) | dbSNP COSMIC COSMIC |
19 | g.15180152G>C | CA404513393 | NOTCH3 | c.3247C>G (p.Gln1083Glu) c.3088C>G (p.Gln1030Glu) c.3091C>G (p.Gln1031Glu) | |
19 | g.15180152G>T | CA404513394 | NOTCH3 | c.3247C>A (p.Gln1083Lys) c.3088C>A (p.Gln1030Lys) c.3091C>A (p.Gln1031Lys) | |
19 | g.15180153C>A | CA404513398 | NOTCH3 | c.3246G>T (p.Glu1082Asp) c.3087G>T (p.Glu1029Asp) c.3090G>T (p.Glu1030Asp) | |
19 | g.15180153C= | CA2324744263 | NOTCH3 | c.3246G= (p.Glu1082=) c.3087G= (p.Glu1029=) c.3090G= (p.Glu1030=) | |
19 | g.15180153C>G | CA404513399 | NOTCH3 | c.3246G>C (p.Glu1082Asp) c.3087G>C (p.Glu1029Asp) c.3090G>C (p.Glu1030Asp) | |
19 | g.15180153C>T | CA9263151 | NOTCH3 | c.3246G>A (p.Glu1082=) c.3087G>A (p.Glu1029=) c.3090G>A (p.Glu1030=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180154T>A | CA404513400 | NOTCH3 | c.3245A>T (p.Glu1082Val) c.3086A>T (p.Glu1029Val) c.3089A>T (p.Glu1030Val) | dbSNP |
19 | g.15180154T>C | CA404513404 | NOTCH3 | c.3245A>G (p.Glu1082Gly) c.3086A>G (p.Glu1029Gly) c.3089A>G (p.Glu1030Gly) | dbSNP |
19 | g.15180154T>G | CA404513406 | NOTCH3 | c.3245A>C (p.Glu1082Ala) c.3086A>C (p.Glu1029Ala) c.3089A>C (p.Glu1030Ala) | |
19 | g.15180155C>A | CA404513409 | NOTCH3 | c.3244G>T (p.Glu1082Ter) c.3085G>T (p.Glu1029Ter) c.3088G>T (p.Glu1030Ter) | |
19 | g.15180155C>G | CA404513410 | NOTCH3 | c.3244G>C (p.Glu1082Gln) c.3085G>C (p.Glu1029Gln) c.3088G>C (p.Glu1030Gln) | |
19 | g.15180155C>T | CA404513413 | NOTCH3 | c.3244G>A (p.Glu1082Lys) c.3085G>A (p.Glu1029Lys) c.3088G>A (p.Glu1030Lys) | gnomAD v4 |
19 | g.15180156A>C | CA404513426 | NOTCH3 | c.3243T>G (p.Cys1081Trp) c.3084T>G (p.Cys1028Trp) c.3087T>G (p.Cys1029Trp) | |
19 | g.15180156A>G | CA505824318 | NOTCH3 | c.3243T>C (p.Cys1081=) c.3084T>C (p.Cys1028=) c.3087T>C (p.Cys1029=) | |
19 | g.15180156A>T | CA404513416 | NOTCH3 | c.3243T>A (p.Cys1081Ter) c.3084T>A (p.Cys1028Ter) c.3087T>A (p.Cys1029Ter) | |
19 | g.15180157C>A | CA404513429 | NOTCH3 | c.3242G>T (p.Cys1081Phe) c.3083G>T (p.Cys1028Phe) c.3086G>T (p.Cys1029Phe) | |
19 | g.15180157C>G | CA404513431 | NOTCH3 | c.3242G>C (p.Cys1081Ser) c.3083G>C (p.Cys1028Ser) c.3086G>C (p.Cys1029Ser) | dbSNP |
19 | g.15180157C>T | CA404513434 | NOTCH3 | c.3242G>A (p.Cys1081Tyr) c.3083G>A (p.Cys1028Tyr) c.3086G>A (p.Cys1029Tyr) | |
19 | g.15180158A= | CA2324744264 | NOTCH3 | c.3241T= (p.Cys1081=) c.3082T= (p.Cys1028=) c.3085T= (p.Cys1029=) | |
19 | g.15180158A>C | CA404513445 | NOTCH3 | c.3241T>G (p.Cys1081Gly) c.3082T>G (p.Cys1028Gly) c.3085T>G (p.Cys1029Gly) | |
19 | g.15180158A>G | CA404513447 | NOTCH3 | c.3241T>C (p.Cys1081Arg) c.3082T>C (p.Cys1028Arg) c.3085T>C (p.Cys1029Arg) | ClinVar dbSNP |
19 | g.15180158A>T | CA404513449 | NOTCH3 | c.3241T>A (p.Cys1081Ser) c.3082T>A (p.Cys1028Ser) c.3085T>A (p.Cys1029Ser) | |
19 | g.15180159G>A | CA505824325 | NOTCH3 | c.3240C>T (p.His1080=) c.3081C>T (p.His1027=) c.3084C>T (p.His1028=) | |
19 | g.15180159G>C | CA404513452 | NOTCH3 | c.3240C>G (p.His1080Gln) c.3081C>G (p.His1027Gln) c.3084C>G (p.His1028Gln) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15180159G= | CA2324744265 | NOTCH3 | c.3240C= (p.His1080=) c.3081C= (p.His1027=) c.3084C= (p.His1028=) | |
19 | g.15180159G>T | CA404513455 | NOTCH3 | c.3240C>A (p.His1080Gln) c.3081C>A (p.His1027Gln) c.3084C>A (p.His1028Gln) | |
19 | g.15180160T>A | CA404513456 | NOTCH3 | c.3239A>T (p.His1080Leu) c.3080A>T (p.His1027Leu) c.3083A>T (p.His1028Leu) | |
19 | g.15180160T>C | CA404513457 | NOTCH3 | c.3239A>G (p.His1080Arg) c.3080A>G (p.His1027Arg) c.3083A>G (p.His1028Arg) | |
19 | g.15180160T>G | CA404513459 | NOTCH3 | c.3239A>C (p.His1080Pro) c.3080A>C (p.His1027Pro) c.3083A>C (p.His1028Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180160T= | CA2324744266 | NOTCH3 | c.3239A= (p.His1080=) c.3080A= (p.His1027=) c.3083A= (p.His1028=) | |
19 | g.15180161G>A | CA404513461 | NOTCH3 | c.3238C>T (p.His1080Tyr) c.3079C>T (p.His1027Tyr) c.3082C>T (p.His1028Tyr) | |
19 | g.15180161G>C | CA404513462 | NOTCH3 | c.3238C>G (p.His1080Asp) c.3079C>G (p.His1027Asp) c.3082C>G (p.His1028Asp) | gnomAD v4 |
19 | g.15180161G>T | CA404513464 | NOTCH3 | c.3238C>A (p.His1080Asn) c.3079C>A (p.His1027Asn) c.3082C>A (p.His1028Asn) | |
19 | g.15180162G>A | CA505824332 | NOTCH3 | c.3237C>T (p.Ser1079=) c.3078C>T (p.Ser1026=) c.3081C>T (p.Ser1027=) | |
19 | g.15180162G>C | CA404513470 | NOTCH3 | c.3237C>G (p.Ser1079Arg) c.3078C>G (p.Ser1026Arg) c.3081C>G (p.Ser1027Arg) | dbSNP |
19 | g.15180162G>T | CA404513469 | NOTCH3 | c.3237C>A (p.Ser1079Arg) c.3078C>A (p.Ser1026Arg) c.3081C>A (p.Ser1027Arg) | |
19 | g.15180163C>A | CA404513471 | NOTCH3 | c.3236G>T (p.Ser1079Ile) c.3077G>T (p.Ser1026Ile) c.3080G>T (p.Ser1027Ile) | dbSNP |
19 | g.15180163C= | CA2324744267 | NOTCH3 | c.3236G= (p.Ser1079=) c.3077G= (p.Ser1026=) c.3080G= (p.Ser1027=) | |
19 | g.15180163C>G | CA404513472 | NOTCH3 | c.3236G>C (p.Ser1079Thr) c.3077G>C (p.Ser1026Thr) c.3080G>C (p.Ser1027Thr) | |
19 | g.15180163C>T | CA9263152 | NOTCH3 | c.3236G>A (p.Ser1079Asn) c.3077G>A (p.Ser1026Asn) c.3080G>A (p.Ser1027Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15180164T>A | CA404513476 | NOTCH3 | c.3235A>T (p.Ser1079Cys) c.3076A>T (p.Ser1026Cys) c.3079A>T (p.Ser1027Cys) | |
19 | g.15180164T>C | CA404513478 | NOTCH3 | c.3235A>G (p.Ser1079Gly) c.3076A>G (p.Ser1026Gly) c.3079A>G (p.Ser1027Gly) | |
19 | g.15180164T>G | CA404513484 | NOTCH3 | c.3235A>C (p.Ser1079Arg) c.3076A>C (p.Ser1026Arg) c.3079A>C (p.Ser1027Arg) | |
19 | g.15180165A>C | CA505824335 | NOTCH3 | c.3234T>G (p.Gly1078=) c.3075T>G (p.Gly1025=) c.3078T>G (p.Gly1026=) | |
19 | g.15180165A>G | CA505824336 | NOTCH3 | c.3234T>C (p.Gly1078=) c.3075T>C (p.Gly1025=) c.3078T>C (p.Gly1026=) | |
19 | g.15180165A>T | CA505824337 | NOTCH3 | c.3234T>A (p.Gly1078=) c.3075T>A (p.Gly1025=) c.3078T>A (p.Gly1026=) | |
19 | g.15180166C>A | CA404513505 | NOTCH3 | c.3233G>T (p.Gly1078Val) c.3074G>T (p.Gly1025Val) c.3077G>T (p.Gly1026Val) | |
19 | g.15180166C>G | CA404513488 | NOTCH3 | c.3233G>C (p.Gly1078Ala) c.3074G>C (p.Gly1025Ala) c.3077G>C (p.Gly1026Ala) | |
19 | g.15180166C>T | CA404513491 | NOTCH3 | c.3233G>A (p.Gly1078Asp) c.3074G>A (p.Gly1025Asp) c.3077G>A (p.Gly1026Asp) | gnomAD v4 |
19 | g.15180167C>A | CA404513507 | NOTCH3 | c.3232G>T (p.Gly1078Cys) c.3073G>T (p.Gly1025Cys) c.3076G>T (p.Gly1026Cys) | |
19 | g.15180167C>G | CA404513510 | NOTCH3 | c.3232G>C (p.Gly1078Arg) c.3073G>C (p.Gly1025Arg) c.3076G>C (p.Gly1026Arg) | |
19 | g.15180167C>T | CA404513513 | NOTCH3 | c.3232G>A (p.Gly1078Ser) c.3073G>A (p.Gly1025Ser) c.3076G>A (p.Gly1026Ser) | |
19 | g.15180168A= | CA2324744268 | NOTCH3 | c.3231T= (p.Thr1077=) c.3072T= (p.Thr1024=) c.3075T= (p.Thr1025=) | |
19 | g.15180168A>C | CA505824338 | NOTCH3 | c.3231T>G (p.Thr1077=) c.3072T>G (p.Thr1024=) c.3075T>G (p.Thr1025=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180168A>G | CA505824339 | NOTCH3 | c.3231T>C (p.Thr1077=) c.3072T>C (p.Thr1024=) c.3075T>C (p.Thr1025=) | |
19 | g.15180168A>T | CA505824340 | NOTCH3 | c.3231T>A (p.Thr1077=) c.3072T>A (p.Thr1024=) c.3075T>A (p.Thr1025=) | |
19 | g.15180169G>A | CA305769993 | NOTCH3 | c.3230C>T (p.Thr1077Ile) c.3071C>T (p.Thr1024Ile) c.3074C>T (p.Thr1025Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180169G>C | CA404513519 | NOTCH3 | c.3230C>G (p.Thr1077Ser) c.3071C>G (p.Thr1024Ser) c.3074C>G (p.Thr1025Ser) | |
19 | g.15180169G= | CA2324744269 | NOTCH3 | c.3230C= (p.Thr1077=) c.3071C= (p.Thr1024=) c.3074C= (p.Thr1025=) | |
19 | g.15180169G>T | CA404513521 | NOTCH3 | c.3230C>A (p.Thr1077Asn) c.3071C>A (p.Thr1024Asn) c.3074C>A (p.Thr1025Asn) | gnomAD v4 |
19 | g.15180170T>A | CA404513526 | NOTCH3 | c.3229A>T (p.Thr1077Ser) c.3070A>T (p.Thr1024Ser) c.3073A>T (p.Thr1025Ser) | |
19 | g.15180170T>C | CA404513533 | NOTCH3 | c.3229A>G (p.Thr1077Ala) c.3070A>G (p.Thr1024Ala) c.3073A>G (p.Thr1025Ala) | gnomAD v4 |
19 | g.15180170T>G | CA404513523 | NOTCH3 | c.3229A>C (p.Thr1077Pro) c.3070A>C (p.Thr1024Pro) c.3073A>C (p.Thr1025Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180170T= | CA2324744270 | NOTCH3 | c.3229A= (p.Thr1077=) c.3070A= (p.Thr1024=) c.3073A= (p.Thr1025=) | |
19 | g.15180171A>C | CA505824341 | NOTCH3 | c.3228T>G (p.Arg1076=) c.3069T>G (p.Arg1023=) c.3072T>G (p.Arg1024=) | |
19 | g.15180171A>G | CA505824342 | NOTCH3 | c.3228T>C (p.Arg1076=) c.3069T>C (p.Arg1023=) c.3072T>C (p.Arg1024=) | |
19 | g.15180171A>T | CA505824343 | NOTCH3 | c.3228T>A (p.Arg1076=) c.3069T>A (p.Arg1023=) c.3072T>A (p.Arg1024=) | |
19 | g.15180172C>A | CA404513542 | NOTCH3 | c.3227G>T (p.Arg1076Leu) c.3068G>T (p.Arg1023Leu) c.3071G>T (p.Arg1024Leu) | |
19 | g.15180172C= | CA2324744271 | NOTCH3 | c.3227G= (p.Arg1076=) c.3068G= (p.Arg1023=) c.3071G= (p.Arg1024=) | |
19 | g.15180172C>G | CA404513538 | NOTCH3 | c.3227G>C (p.Arg1076Pro) c.3068G>C (p.Arg1023Pro) c.3071G>C (p.Arg1024Pro) | |
19 | g.15180172C>T | CA9263153 | NOTCH3 | c.3227G>A (p.Arg1076His) c.3068G>A (p.Arg1023His) c.3071G>A (p.Arg1024His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15180173G>A | CA404513546 | NOTCH3 | c.3226C>T (p.Arg1076Cys) c.3067C>T (p.Arg1023Cys) c.3070C>T (p.Arg1024Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15180173G>C | CA404513549 | NOTCH3 | c.3226C>G (p.Arg1076Gly) c.3067C>G (p.Arg1023Gly) c.3070C>G (p.Arg1024Gly) | |
19 | g.15180173G= | CA2324744272 | NOTCH3 | c.3226C= (p.Arg1076=) c.3067C= (p.Arg1023=) c.3070C= (p.Arg1024=) | |
19 | g.15180173G>T | CA404513550 | NOTCH3 | c.3226C>A (p.Arg1076Ser) c.3067C>A (p.Arg1023Ser) c.3070C>A (p.Arg1024Ser) | |
19 | g.15180174G>A | CA505824344 | NOTCH3 | c.3225C>T (p.Gly1075=) c.3066C>T (p.Gly1022=) c.3069C>T (p.Gly1023=) | dbSNP |
19 | g.15180174G>C | CA505824345 | NOTCH3 | c.3225C>G (p.Gly1075=) c.3066C>G (p.Gly1022=) c.3069C>G (p.Gly1023=) | gnomAD v4 |
19 | g.15180174G>T | CA505824346 | NOTCH3 | c.3225C>A (p.Gly1075=) c.3066C>A (p.Gly1022=) c.3069C>A (p.Gly1023=) | |
19 | g.15180175C>A | CA404513561 | NOTCH3 | c.3224G>T (p.Gly1075Val) c.3065G>T (p.Gly1022Val) c.3068G>T (p.Gly1023Val) | dbSNP |
19 | g.15180175C>G | CA404513564 | NOTCH3 | c.3224G>C (p.Gly1075Ala) c.3065G>C (p.Gly1022Ala) c.3068G>C (p.Gly1023Ala) | |
19 | g.15180175C>T | CA404513566 | NOTCH3 | c.3224G>A (p.Gly1075Asp) c.3065G>A (p.Gly1022Asp) c.3068G>A (p.Gly1023Asp) | |
19 | g.15180176C>A | CA404513571 | NOTCH3 | c.3223G>T (p.Gly1075Cys) c.3064G>T (p.Gly1022Cys) c.3067G>T (p.Gly1023Cys) | dbSNP |
19 | g.15180176C= | CA2324744273 | NOTCH3 | c.3223G= (p.Gly1075=) c.3064G= (p.Gly1022=) c.3067G= (p.Gly1023=) | |
19 | g.15180176C>G | CA404513575 | NOTCH3 | c.3223G>C (p.Gly1075Arg) c.3064G>C (p.Gly1022Arg) c.3067G>C (p.Gly1023Arg) | |
19 | g.15180176C>T | CA305770005 | NOTCH3 | c.3223G>A (p.Gly1075Ser) c.3064G>A (p.Gly1022Ser) c.3067G>A (p.Gly1023Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15180177C>A | CA404513580 | NOTCH3 | c.3222G>T (p.Glu1074Asp) c.3063G>T (p.Glu1021Asp) c.3066G>T (p.Glu1022Asp) | |
19 | g.15180177C>G | CA404513584 | NOTCH3 | c.3222G>C (p.Glu1074Asp) c.3063G>C (p.Glu1021Asp) c.3066G>C (p.Glu1022Asp) | |
19 | g.15180177C>T | CA505824347 | NOTCH3 | c.3222G>A (p.Glu1074=) c.3063G>A (p.Glu1021=) c.3066G>A (p.Glu1022=) | |
19 | g.15180178T>A | CA404513591 | NOTCH3 | c.3221A>T (p.Glu1074Val) c.3062A>T (p.Glu1021Val) c.3065A>T (p.Glu1022Val) | |
19 | g.15180178T>C | CA404513588 | NOTCH3 | c.3221A>G (p.Glu1074Gly) c.3062A>G (p.Glu1021Gly) c.3065A>G (p.Glu1022Gly) | dbSNP |
19 | g.15180178T>G | CA404513586 | NOTCH3 | c.3221A>C (p.Glu1074Ala) c.3062A>C (p.Glu1021Ala) c.3065A>C (p.Glu1022Ala) | gnomAD v4 |