UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136499264_136508873del | CA2573144305 | NOTCH1 | c.3171+1_5935-1del c.3171+1_*975-1del c.3057+1_5821-1del c.3171+1_5815-1del c.768+1_3532-1del c.*571+1_*3335-1del c.*780+1_*3544-1del c.*2407+1_*5171-1del c.2472+1_5236-1del c.2448+1_5212-1del | ClinVar |
| 9 | g.136504933_136504934insTGGGGAAGGCGCGGCAGGAAGTGGAAGGAGCTGTTG | CA645543444 | NOTCH1 | n.2587_2588insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC c.4780_4781insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (p.Leu1593_Arg1594insProArgLeuProHisAsnSerSerPheHisPheLeu) c.4666_4667insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (p.Leu1555_Arg1556insProArgLeuProHisAsnSerSerPheHisPheLeu) c.4660_4661insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (p.Leu1553_Arg1554insProArgLeuProHisAsnSerSerPheHisPheLeu) c.2377_2378insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (p.Leu792_Arg793insProArgLeuProHisAsnSerSerPheHisPheLeu) c.*2180_*2181insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (n.*2180_*2181insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC) c.*2389_*2390insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (n.*2389_*2390insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC) n.1593_1594insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC c.*4016_*4017insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (n.*4016_*4017insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC) c.4081_4082insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (p.Leu1360_Arg1361insProArgLeuProHisAsnSerSerPheHisPheLeu) c.4057_4058insCGCGCCTTCCCCACAACAGCTCCTTCCACTTCCTGC (p.Leu1352_Arg1353insProArgLeuProHisAsnSerSerPheHisPheLeu) | COSMIC COSMIC |
| 9 | g.136504928C>A | CA375645127 | NOTCH1 | n.2570G>T c.4763G>T (p.Ser1588Ile) c.4649G>T (p.Ser1550Ile) c.4643G>T (p.Ser1548Ile) c.2360G>T (p.Ser787Ile) c.*2163G>T (n.*2163G>T) c.*2372G>T (n.*2372G>T) n.1576G>T c.*3999G>T (n.*3999G>T) c.4064G>T (p.Ser1355Ile) c.4040G>T (p.Ser1347Ile) | dbSNP gnomAD v4 |
| 9 | g.136504928C>G | CA375645128 | NOTCH1 | n.2570G>C c.4763G>C (p.Ser1588Thr) c.4649G>C (p.Ser1550Thr) c.4643G>C (p.Ser1548Thr) c.2360G>C (p.Ser787Thr) c.*2163G>C (n.*2163G>C) c.*2372G>C (n.*2372G>C) n.1576G>C c.*3999G>C (n.*3999G>C) c.4064G>C (p.Ser1355Thr) c.4040G>C (p.Ser1347Thr) | dbSNP |
| 9 | g.136504928C>T | CA375645131 | NOTCH1 | n.2570G>A c.4763G>A (p.Ser1588Asn) c.4649G>A (p.Ser1550Asn) c.4643G>A (p.Ser1548Asn) c.2360G>A (p.Ser787Asn) c.*2163G>A (n.*2163G>A) c.*2372G>A (n.*2372G>A) n.1576G>A c.*3999G>A (n.*3999G>A) c.4064G>A (p.Ser1355Asn) c.4040G>A (p.Ser1347Asn) | ClinVar dbSNP gnomAD v4 |
| 9 | g.136504929T>A | CA375645135 | NOTCH1 | n.2569A>T c.4762A>T (p.Ser1588Cys) c.4648A>T (p.Ser1550Cys) c.4642A>T (p.Ser1548Cys) c.2359A>T (p.Ser787Cys) c.*2162A>T (n.*2162A>T) c.*2371A>T (n.*2371A>T) n.1575A>T c.*3998A>T (n.*3998A>T) c.4063A>T (p.Ser1355Cys) c.4039A>T (p.Ser1347Cys) | dbSNP |
| 9 | g.136504929T>C | CA375645138 | NOTCH1 | n.2569A>G c.4762A>G (p.Ser1588Gly) c.4648A>G (p.Ser1550Gly) c.4642A>G (p.Ser1548Gly) c.2359A>G (p.Ser787Gly) c.*2162A>G (n.*2162A>G) c.*2371A>G (n.*2371A>G) n.1575A>G c.*3998A>G (n.*3998A>G) c.4063A>G (p.Ser1355Gly) c.4039A>G (p.Ser1347Gly) | dbSNP gnomAD v4 |
| 9 | g.136504929T>G | CA375645139 | NOTCH1 | n.2569A>C c.4762A>C (p.Ser1588Arg) c.4648A>C (p.Ser1550Arg) c.4642A>C (p.Ser1548Arg) c.2359A>C (p.Ser787Arg) c.*2162A>C (n.*2162A>C) c.*2371A>C (n.*2371A>C) n.1575A>C c.*3998A>C (n.*3998A>C) c.4063A>C (p.Ser1355Arg) c.4039A>C (p.Ser1347Arg) | dbSNP |
| 9 | g.136504930G>A | CA5340520 | NOTCH1 | n.2568C>T c.4761C>T (p.Asn1587=) c.4647C>T (p.Asn1549=) c.4641C>T (p.Asn1547=) c.2358C>T (p.Asn786=) c.*2161C>T (n.*2161C>T) c.*2370C>T (n.*2370C>T) n.1574C>T c.*3997C>T (n.*3997C>T) c.4062C>T (p.Asn1354=) c.4038C>T (p.Asn1346=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136504930G>C | CA375645151 | NOTCH1 | n.2568C>G c.4761C>G (p.Asn1587Lys) c.4647C>G (p.Asn1549Lys) c.4641C>G (p.Asn1547Lys) c.2358C>G (p.Asn786Lys) c.*2161C>G (n.*2161C>G) c.*2370C>G (n.*2370C>G) n.1574C>G c.*3997C>G (n.*3997C>G) c.4062C>G (p.Asn1354Lys) c.4038C>G (p.Asn1346Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136504930G>T | CA375645154 | NOTCH1 | n.2568C>A c.4761C>A (p.Asn1587Lys) c.4647C>A (p.Asn1549Lys) c.4641C>A (p.Asn1547Lys) c.2358C>A (p.Asn786Lys) c.*2161C>A (n.*2161C>A) c.*2370C>A (n.*2370C>A) n.1574C>A c.*3997C>A (n.*3997C>A) c.4062C>A (p.Asn1354Lys) c.4038C>A (p.Asn1346Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 9 | g.136504931T>A | CA375645156 | NOTCH1 | n.2567A>T c.4760A>T (p.Asn1587Ile) c.4646A>T (p.Asn1549Ile) c.4640A>T (p.Asn1547Ile) c.2357A>T (p.Asn786Ile) c.*2160A>T (n.*2160A>T) c.*2369A>T (n.*2369A>T) n.1573A>T c.*3996A>T (n.*3996A>T) c.4061A>T (p.Asn1354Ile) c.4037A>T (p.Asn1346Ile) | dbSNP |
| 9 | g.136504931T>C | CA375645158 | NOTCH1 | n.2567A>G c.4760A>G (p.Asn1587Ser) c.4646A>G (p.Asn1549Ser) c.4640A>G (p.Asn1547Ser) c.2357A>G (p.Asn786Ser) c.*2160A>G (n.*2160A>G) c.*2369A>G (n.*2369A>G) n.1573A>G c.*3996A>G (n.*3996A>G) c.4061A>G (p.Asn1354Ser) c.4037A>G (p.Asn1346Ser) | dbSNP gnomAD v4 |
| 9 | g.136504931T>G | CA375645159 | NOTCH1 | n.2567A>C c.4760A>C (p.Asn1587Thr) c.4646A>C (p.Asn1549Thr) c.4640A>C (p.Asn1547Thr) c.2357A>C (p.Asn786Thr) c.*2160A>C (n.*2160A>C) c.*2369A>C (n.*2369A>C) n.1573A>C c.*3996A>C (n.*3996A>C) c.4061A>C (p.Asn1354Thr) c.4037A>C (p.Asn1346Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.136504932T>A | CA375645165 | NOTCH1 | n.2566A>T c.4759A>T (p.Asn1587Tyr) c.4645A>T (p.Asn1549Tyr) c.4639A>T (p.Asn1547Tyr) c.2356A>T (p.Asn786Tyr) c.*2159A>T (n.*2159A>T) c.*2368A>T (n.*2368A>T) n.1572A>T c.*3995A>T (n.*3995A>T) c.4060A>T (p.Asn1354Tyr) c.4036A>T (p.Asn1346Tyr) | dbSNP |
| 9 | g.136504932T>C | CA375645164 | NOTCH1 | n.2566A>G c.4759A>G (p.Asn1587Asp) c.4645A>G (p.Asn1549Asp) c.4639A>G (p.Asn1547Asp) c.2356A>G (p.Asn786Asp) c.*2159A>G (n.*2159A>G) c.*2368A>G (n.*2368A>G) n.1572A>G c.*3995A>G (n.*3995A>G) c.4060A>G (p.Asn1354Asp) c.4036A>G (p.Asn1346Asp) | gnomAD v4 |
| 9 | g.136504932T>G | CA375645162 | NOTCH1 | n.2566A>C c.4759A>C (p.Asn1587His) c.4645A>C (p.Asn1549His) c.4639A>C (p.Asn1547His) c.2356A>C (p.Asn786His) c.*2159A>C (n.*2159A>C) c.*2368A>C (n.*2368A>C) n.1572A>C c.*3995A>C (n.*3995A>C) c.4060A>C (p.Asn1354His) c.4036A>C (p.Asn1346His) | dbSNP |
| 9 | g.136504932_136504933insTG | CA1139661349 | NOTCH1 | n.2565_2566insCA c.4758_4759insCA (p.Asn1587GlnfsTer30) c.4644_4645insCA (p.Asn1549GlnfsTer30) c.4638_4639insCA (p.Asn1547GlnfsTer30) c.2355_2356insCA (p.Asn786GlnfsTer30) c.*2158_*2159insCA (n.*2158_*2159insCA) c.*2367_*2368insCA (n.*2367_*2368insCA) n.1571_1572insCA c.*3994_*3995insCA (n.*3994_*3995insCA) c.4059_4060insCA (p.Asn1354GlnfsTer30) c.4035_4036insCA (p.Asn1346GlnfsTer30) | ClinVar dbSNP |
| 9 | g.136504933G>A | CA467832773 | NOTCH1 | n.2565C>T c.4758C>T (p.Arg1586=) c.4644C>T (p.Arg1548=) c.4638C>T (p.Arg1546=) c.2355C>T (p.Arg785=) c.*2158C>T (n.*2158C>T) c.*2367C>T (n.*2367C>T) n.1571C>T c.*3994C>T (n.*3994C>T) c.4059C>T (p.Arg1353=) c.4035C>T (p.Arg1345=) | |
| 9 | g.136504933G>C | CA467832775 | NOTCH1 | n.2565C>G c.4758C>G (p.Arg1586=) c.4644C>G (p.Arg1548=) c.4638C>G (p.Arg1546=) c.2355C>G (p.Arg785=) c.*2158C>G (n.*2158C>G) c.*2367C>G (n.*2367C>G) n.1571C>G c.*3994C>G (n.*3994C>G) c.4059C>G (p.Arg1353=) c.4035C>G (p.Arg1345=) | dbSNP |
| 9 | g.136504933G>T | CA467832774 | NOTCH1 | n.2565C>A c.4758C>A (p.Arg1586=) c.4644C>A (p.Arg1548=) c.4638C>A (p.Arg1546=) c.2355C>A (p.Arg785=) c.*2158C>A (n.*2158C>A) c.*2367C>A (n.*2367C>A) n.1571C>A c.*3994C>A (n.*3994C>A) c.4059C>A (p.Arg1353=) c.4035C>A (p.Arg1345=) | gnomAD v4 |
| 9 | g.136504934C>A | CA375645167 | NOTCH1 | n.2564G>T c.4757G>T (p.Arg1586Leu) c.4643G>T (p.Arg1548Leu) c.4637G>T (p.Arg1546Leu) c.2354G>T (p.Arg785Leu) c.*2157G>T (n.*2157G>T) c.*2366G>T (n.*2366G>T) n.1570G>T c.*3993G>T (n.*3993G>T) c.4058G>T (p.Arg1353Leu) c.4034G>T (p.Arg1345Leu) | gnomAD v4 |
| 9 | g.136504934C>G | CA375645169 | NOTCH1 | n.2564G>C c.4757G>C (p.Arg1586Pro) c.4643G>C (p.Arg1548Pro) c.4637G>C (p.Arg1546Pro) c.2354G>C (p.Arg785Pro) c.*2157G>C (n.*2157G>C) c.*2366G>C (n.*2366G>C) n.1570G>C c.*3993G>C (n.*3993G>C) c.4058G>C (p.Arg1353Pro) c.4034G>C (p.Arg1345Pro) | dbSNP COSMIC COSMIC |
| 9 | g.136504934C>T | CA5340521 | NOTCH1 | n.2564G>A c.4757G>A (p.Arg1586His) c.4643G>A (p.Arg1548His) c.4637G>A (p.Arg1546His) c.2354G>A (p.Arg785His) c.*2157G>A (n.*2157G>A) c.*2366G>A (n.*2366G>A) n.1570G>A c.*3993G>A (n.*3993G>A) c.4058G>A (p.Arg1353His) c.4034G>A (p.Arg1345His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136504935G>A | CA375645172 | NOTCH1 | n.2563C>T c.4756C>T (p.Arg1586Cys) c.4642C>T (p.Arg1548Cys) c.4636C>T (p.Arg1546Cys) c.2353C>T (p.Arg785Cys) c.*2156C>T (n.*2156C>T) c.*2365C>T (n.*2365C>T) n.1569C>T c.*3992C>T (n.*3992C>T) c.4057C>T (p.Arg1353Cys) c.4033C>T (p.Arg1345Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136504935G>C | CA375645173 | NOTCH1 | n.2563C>G c.4756C>G (p.Arg1586Gly) c.4642C>G (p.Arg1548Gly) c.4636C>G (p.Arg1546Gly) c.2353C>G (p.Arg785Gly) c.*2156C>G (n.*2156C>G) c.*2365C>G (n.*2365C>G) n.1569C>G c.*3992C>G (n.*3992C>G) c.4057C>G (p.Arg1353Gly) c.4033C>G (p.Arg1345Gly) | |
| 9 | g.136504935G>T | CA375645175 | NOTCH1 | n.2563C>A c.4756C>A (p.Arg1586Ser) c.4642C>A (p.Arg1548Ser) c.4636C>A (p.Arg1546Ser) c.2353C>A (p.Arg785Ser) c.*2156C>A (n.*2156C>A) c.*2365C>A (n.*2365C>A) n.1569C>A c.*3992C>A (n.*3992C>A) c.4057C>A (p.Arg1353Ser) c.4033C>A (p.Arg1345Ser) | gnomAD v4 |
| 9 | g.136504938_136504952del | CA645543477 | NOTCH1 | n.2549_2563del c.4742_4756del (p.Pro1581_Leu1585del) c.4628_4642del (p.Pro1543_Leu1547del) c.4622_4636del (p.Pro1541_Leu1545del) c.2339_2353del (p.Pro780_Leu784del) c.*2142_*2156del (n.*2142_*2156del) c.*2351_*2365del (n.*2351_*2365del) n.1555_1569del c.*3978_*3992del (n.*3978_*3992del) c.4043_4057del (p.Pro1348_Leu1352del) c.4019_4033del (p.Pro1340_Leu1344del) | COSMIC COSMIC |
| 9 | g.136504936C>A | CA467832776 | NOTCH1 | n.2562G>T c.4755G>T (p.Leu1585=) c.4641G>T (p.Leu1547=) c.4635G>T (p.Leu1545=) c.2352G>T (p.Leu784=) c.*2155G>T (n.*2155G>T) c.*2364G>T (n.*2364G>T) n.1568G>T c.*3991G>T (n.*3991G>T) c.4056G>T (p.Leu1352=) c.4032G>T (p.Leu1344=) | dbSNP gnomAD v4 |
| 9 | g.136504936C>G | CA467832779 | NOTCH1 | n.2562G>C c.4755G>C (p.Leu1585=) c.4641G>C (p.Leu1547=) c.4635G>C (p.Leu1545=) c.2352G>C (p.Leu784=) c.*2155G>C (n.*2155G>C) c.*2364G>C (n.*2364G>C) n.1568G>C c.*3991G>C (n.*3991G>C) c.4056G>C (p.Leu1352=) c.4032G>C (p.Leu1344=) | dbSNP |
| 9 | g.136504936C>T | CA467832778 | NOTCH1 | n.2562G>A c.4755G>A (p.Leu1585=) c.4641G>A (p.Leu1547=) c.4635G>A (p.Leu1545=) c.2352G>A (p.Leu784=) c.*2155G>A (n.*2155G>A) c.*2364G>A (n.*2364G>A) n.1568G>A c.*3991G>A (n.*3991G>A) c.4056G>A (p.Leu1352=) c.4032G>A (p.Leu1344=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.136504936_136504937delinsAG | CA645543478 | NOTCH1 | n.2561_2562delinsCT c.4754_4755delinsCT (p.Leu1585Pro) c.4640_4641delinsCT (p.Leu1547Pro) c.4634_4635delinsCT (p.Leu1545Pro) c.2351_2352delinsCT (p.Leu784Pro) c.*2154_*2155delinsCT (n.*2154_*2155delinsCT) c.*2363_*2364delinsCT (n.*2363_*2364delinsCT) n.1567_1568delinsCT c.*3990_*3991delinsCT (n.*3990_*3991delinsCT) c.4055_4056delinsCT (p.Leu1352Pro) c.4031_4032delinsCT (p.Leu1344Pro) | COSMIC |
| 9 | g.136504936_136504937insCTGCTTCCGGGG | CA645543479 | NOTCH1 | n.2561_2562insCCCCGGAAGCAG c.4754_4755insCCCCGGAAGCAG (p.Leu1585_Arg1586insProGlySerArg) c.4640_4641insCCCCGGAAGCAG (p.Leu1547_Arg1548insProGlySerArg) c.4634_4635insCCCCGGAAGCAG (p.Leu1545_Arg1546insProGlySerArg) c.2351_2352insCCCCGGAAGCAG (p.Leu784_Arg785insProGlySerArg) c.*2154_*2155insCCCCGGAAGCAG (n.*2154_*2155insCCCCGGAAGCAG) c.*2363_*2364insCCCCGGAAGCAG (n.*2363_*2364insCCCCGGAAGCAG) n.1567_1568insCCCCGGAAGCAG c.*3990_*3991insCCCCGGAAGCAG (n.*3990_*3991insCCCCGGAAGCAG) c.4055_4056insCCCCGGAAGCAG (p.Leu1352_Arg1353insProGlySerArg) c.4031_4032insCCCCGGAAGCAG (p.Leu1344_Arg1345insProGlySerArg) | COSMIC |
| 9 | g.136504937A>C | CA375645177 | NOTCH1 | n.2561T>G c.4754T>G (p.Leu1585Arg) c.4640T>G (p.Leu1547Arg) c.4634T>G (p.Leu1545Arg) c.2351T>G (p.Leu784Arg) c.*2154T>G (n.*2154T>G) c.*2363T>G (n.*2363T>G) n.1567T>G c.*3990T>G (n.*3990T>G) c.4055T>G (p.Leu1352Arg) c.4031T>G (p.Leu1344Arg) | dbSNP COSMIC |
| 9 | g.136504937A>G | CA375645179 | NOTCH1 | n.2561T>C c.4754T>C (p.Leu1585Pro) c.4640T>C (p.Leu1547Pro) c.4634T>C (p.Leu1545Pro) c.2351T>C (p.Leu784Pro) c.*2154T>C (n.*2154T>C) c.*2363T>C (n.*2363T>C) n.1567T>C c.*3990T>C (n.*3990T>C) c.4055T>C (p.Leu1352Pro) c.4031T>C (p.Leu1344Pro) | dbSNP gnomAD v4 COSMIC |
| 9 | g.136504937A>T | CA375645180 | NOTCH1 | n.2561T>A c.4754T>A (p.Leu1585Gln) c.4640T>A (p.Leu1547Gln) c.4634T>A (p.Leu1545Gln) c.2351T>A (p.Leu784Gln) c.*2154T>A (n.*2154T>A) c.*2363T>A (n.*2363T>A) n.1567T>A c.*3990T>A (n.*3990T>A) c.4055T>A (p.Leu1352Gln) c.4031T>A (p.Leu1344Gln) | dbSNP COSMIC COSMIC |
| 9 | g.136504937_136504938insT | CA645543481 | NOTCH1 | n.2560_2561insA c.4753_4754insA (p.Leu1585HisfsTer25) c.4639_4640insA (p.Leu1547HisfsTer25) c.4633_4634insA (p.Leu1545HisfsTer25) c.2350_2351insA (p.Leu784HisfsTer25) c.*2153_*2154insA (n.*2153_*2154insA) c.*2362_*2363insA (n.*2362_*2363insA) n.1566_1567insA c.*3989_*3990insA (n.*3989_*3990insA) c.4054_4055insA (p.Leu1352HisfsTer25) c.4030_4031insA (p.Leu1344HisfsTer25) | dbSNP COSMIC COSMIC |
| 9 | g.136504938G>A | CA201643984 | NOTCH1 | n.2560C>T c.4753C>T (p.Leu1585=) c.4639C>T (p.Leu1547=) c.4633C>T (p.Leu1545=) c.2350C>T (p.Leu784=) c.*2153C>T (n.*2153C>T) c.*2362C>T (n.*2362C>T) n.1566C>T c.*3989C>T (n.*3989C>T) c.4054C>T (p.Leu1352=) c.4030C>T (p.Leu1344=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136504938G>C | CA375645181 | NOTCH1 | n.2560C>G c.4753C>G (p.Leu1585Val) c.4639C>G (p.Leu1547Val) c.4633C>G (p.Leu1545Val) c.2350C>G (p.Leu784Val) c.*2153C>G (n.*2153C>G) c.*2362C>G (n.*2362C>G) n.1566C>G c.*3989C>G (n.*3989C>G) c.4054C>G (p.Leu1352Val) c.4030C>G (p.Leu1344Val) | |
| 9 | g.136504938G>T | CA375645183 | NOTCH1 | n.2560C>A c.4753C>A (p.Leu1585Met) c.4639C>A (p.Leu1547Met) c.4633C>A (p.Leu1545Met) c.2350C>A (p.Leu784Met) c.*2153C>A (n.*2153C>A) c.*2362C>A (n.*2362C>A) n.1566C>A c.*3989C>A (n.*3989C>A) c.4054C>A (p.Leu1352Met) c.4030C>A (p.Leu1344Met) | |
| 9 | g.136504938dup | CA645543480 | NOTCH1 | n.2560dup c.4753dup (p.Leu1585ProfsTer25) c.4639dup (p.Leu1547ProfsTer25) c.4633dup (p.Leu1545ProfsTer25) c.2350dup (p.Leu784ProfsTer25) c.*2153dup (n.*2153dup) c.*2362dup (n.*2362dup) n.1566dup c.*3989dup (n.*3989dup) c.4054dup (p.Leu1352ProfsTer25) c.4030dup (p.Leu1344ProfsTer25) | dbSNP COSMIC COSMIC |
| 9 | g.136504939C>A | CA375645185 | NOTCH1 | n.2559G>T c.4752G>T (p.Gln1584His) c.4638G>T (p.Gln1546His) c.4632G>T (p.Gln1544His) c.2349G>T (p.Gln783His) c.*2152G>T (n.*2152G>T) c.*2361G>T (n.*2361G>T) n.1565G>T c.*3988G>T (n.*3988G>T) c.4053G>T (p.Gln1351His) c.4029G>T (p.Gln1343His) | gnomAD v4 |
| 9 | g.136504939C>G | CA375645187 | NOTCH1 | n.2559G>C c.4752G>C (p.Gln1584His) c.4638G>C (p.Gln1546His) c.4632G>C (p.Gln1544His) c.2349G>C (p.Gln783His) c.*2152G>C (n.*2152G>C) c.*2361G>C (n.*2361G>C) n.1565G>C c.*3988G>C (n.*3988G>C) c.4053G>C (p.Gln1351His) c.4029G>C (p.Gln1343His) | dbSNP |
| 9 | g.136504939C>T | CA467832782 | NOTCH1 | n.2559G>A c.4752G>A (p.Gln1584=) c.4638G>A (p.Gln1546=) c.4632G>A (p.Gln1544=) c.2349G>A (p.Gln783=) c.*2152G>A (n.*2152G>A) c.*2361G>A (n.*2361G>A) n.1565G>A c.*3988G>A (n.*3988G>A) c.4053G>A (p.Gln1351=) c.4029G>A (p.Gln1343=) | dbSNP |
| 9 | g.136504939_136504940insGCTCCGGCGGCATCAGCTCCACGG | CA645543482 | NOTCH1 | n.2558_2559insCCGTGGAGCTGATGCCGCCGGAGC c.4751_4752insCCGTGGAGCTGATGCCGCCGGAGC (p.Gln1584delinsHisArgGlyAlaAspAlaAlaGlyAla) c.4637_4638insCCGTGGAGCTGATGCCGCCGGAGC (p.Gln1546delinsHisArgGlyAlaAspAlaAlaGlyAla) c.4631_4632insCCGTGGAGCTGATGCCGCCGGAGC (p.Gln1544delinsHisArgGlyAlaAspAlaAlaGlyAla) c.2348_2349insCCGTGGAGCTGATGCCGCCGGAGC (p.Gln783delinsHisArgGlyAlaAspAlaAlaGlyAla) c.*2151_*2152insCCGTGGAGCTGATGCCGCCGGAGC (n.*2151_*2152insCCGTGGAGCTGATGCCGCCGGAGC) c.*2360_*2361insCCGTGGAGCTGATGCCGCCGGAGC (n.*2360_*2361insCCGTGGAGCTGATGCCGCCGGAGC) n.1564_1565insCCGTGGAGCTGATGCCGCCGGAGC c.*3987_*3988insCCGTGGAGCTGATGCCGCCGGAGC (n.*3987_*3988insCCGTGGAGCTGATGCCGCCGGAGC) c.4052_4053insCCGTGGAGCTGATGCCGCCGGAGC (p.Gln1351delinsHisArgGlyAlaAspAlaAlaGlyAla) c.4028_4029insCCGTGGAGCTGATGCCGCCGGAGC (p.Gln1343delinsHisArgGlyAlaAspAlaAlaGlyAla) | COSMIC |
| 9 | g.136504940T>A | CA375645191 | NOTCH1 | n.2558A>T c.4751A>T (p.Gln1584Leu) c.4637A>T (p.Gln1546Leu) c.4631A>T (p.Gln1544Leu) c.2348A>T (p.Gln783Leu) c.*2151A>T (n.*2151A>T) c.*2360A>T (n.*2360A>T) n.1564A>T c.*3987A>T (n.*3987A>T) c.4052A>T (p.Gln1351Leu) c.4028A>T (p.Gln1343Leu) | dbSNP |
| 9 | g.136504940T>C | CA375645192 | NOTCH1 | n.2558A>G c.4751A>G (p.Gln1584Arg) c.4637A>G (p.Gln1546Arg) c.4631A>G (p.Gln1544Arg) c.2348A>G (p.Gln783Arg) c.*2151A>G (n.*2151A>G) c.*2360A>G (n.*2360A>G) n.1564A>G c.*3987A>G (n.*3987A>G) c.4052A>G (p.Gln1351Arg) c.4028A>G (p.Gln1343Arg) | dbSNP |
| 9 | g.136504940T>G | CA375645189 | NOTCH1 | n.2558A>C c.4751A>C (p.Gln1584Pro) c.4637A>C (p.Gln1546Pro) c.4631A>C (p.Gln1544Pro) c.2348A>C (p.Gln783Pro) c.*2151A>C (n.*2151A>C) c.*2360A>C (n.*2360A>C) n.1564A>C c.*3987A>C (n.*3987A>C) c.4052A>C (p.Gln1351Pro) c.4028A>C (p.Gln1343Pro) | |
| 9 | g.136504941G>A | CA375645194 | NOTCH1 | n.2557C>T c.4750C>T (p.Gln1584Ter) c.4636C>T (p.Gln1546Ter) c.4630C>T (p.Gln1544Ter) c.2347C>T (p.Gln783Ter) c.*2150C>T (n.*2150C>T) c.*2359C>T (n.*2359C>T) n.1563C>T c.*3986C>T (n.*3986C>T) c.4051C>T (p.Gln1351Ter) c.4027C>T (p.Gln1343Ter) | dbSNP COSMIC COSMIC |
| 9 | g.136504941G>C | CA375645196 | NOTCH1 | n.2557C>G c.4750C>G (p.Gln1584Glu) c.4636C>G (p.Gln1546Glu) c.4630C>G (p.Gln1544Glu) c.2347C>G (p.Gln783Glu) c.*2150C>G (n.*2150C>G) c.*2359C>G (n.*2359C>G) n.1563C>G c.*3986C>G (n.*3986C>G) c.4051C>G (p.Gln1351Glu) c.4027C>G (p.Gln1343Glu) | dbSNP |