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 |
|---|---|---|---|---|---|
| 4 | g.15596108T>A | CA356431479 | CC2D2A | c.4374T>A (p.Tyr1458Ter) c.4338T>A (p.Tyr1446Ter) c.4191T>A (p.Tyr1397Ter) n.237T>A c.544-1299T>A (n.544-1299T>A) c.4168-36T>A (n.4168-36T>A) c.*1835T>A (n.*1835T>A) c.4014T>A (p.Tyr1338Ter) n.4997T>A c.3836T>A c.2643-36T>A c.54-1299T>A c.4144T>A (n.4144T>A) c.4356T>A (p.Tyr1452Ter) c.4209T>A (p.Tyr1403Ter) | |
| 4 | g.15596108T>C | CA438391033 | CC2D2A | c.4374T>C (p.Tyr1458=) c.4338T>C (p.Tyr1446=) c.4191T>C (p.Tyr1397=) n.237T>C c.544-1299T>C (n.544-1299T>C) c.4168-36T>C (n.4168-36T>C) c.*1835T>C (n.*1835T>C) c.4014T>C (p.Tyr1338=) n.4997T>C c.3836T>C c.2643-36T>C c.54-1299T>C c.4144T>C (n.4144T>C) c.4356T>C (p.Tyr1452=) c.4209T>C (p.Tyr1403=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.15596108T>G | CA356431480 | CC2D2A | c.4374T>G (p.Tyr1458Ter) c.4338T>G (p.Tyr1446Ter) c.4191T>G (p.Tyr1397Ter) n.237T>G c.544-1299T>G (n.544-1299T>G) c.4168-36T>G (n.4168-36T>G) c.*1835T>G (n.*1835T>G) c.4014T>G (p.Tyr1338Ter) n.4997T>G c.3836T>G c.2643-36T>G c.54-1299T>G c.4144T>G (n.4144T>G) c.4356T>G (p.Tyr1452Ter) c.4209T>G (p.Tyr1403Ter) | |
| 4 | g.15596108T= | CA1440709971 | CC2D2A | c.4374T= (p.Tyr1458=) c.4338T= (p.Tyr1446=) c.4191T= (p.Tyr1397=) n.237T= c.544-1299T= (n.544-1299T=) c.4168-36T= (n.4168-36T=) c.*1835T= (n.*1835T=) c.4014T= (p.Tyr1338=) n.4997T= c.3836T= c.2643-36T= c.54-1299T= c.4144T= (n.4144T=) c.4356T= (p.Tyr1452=) c.4209T= (p.Tyr1403=) | |
| 4 | g.15596109G>A | CA356431481 | CC2D2A | c.4375G>A (p.Glu1459Lys) c.4339G>A (p.Glu1447Lys) c.4192G>A (p.Glu1398Lys) n.238G>A c.544-1298G>A (n.544-1298G>A) c.4168-35G>A (n.4168-35G>A) c.*1836G>A (n.*1836G>A) c.4015G>A (p.Glu1339Lys) n.4998G>A c.3837G>A c.2643-35G>A c.54-1298G>A c.4145G>A (n.4145G>A) c.4357G>A (p.Glu1453Lys) c.4210G>A (p.Glu1404Lys) | |
| 4 | g.15596109G>C | CA356431483 | CC2D2A | c.4375G>C (p.Glu1459Gln) c.4339G>C (p.Glu1447Gln) c.4192G>C (p.Glu1398Gln) n.238G>C c.544-1298G>C (n.544-1298G>C) c.4168-35G>C (n.4168-35G>C) c.*1836G>C (n.*1836G>C) c.4015G>C (p.Glu1339Gln) n.4998G>C c.3837G>C c.2643-35G>C c.54-1298G>C c.4145G>C (n.4145G>C) c.4357G>C (p.Glu1453Gln) c.4210G>C (p.Glu1404Gln) | |
| 4 | g.15596109G>T | CA356431482 | CC2D2A | c.4375G>T (p.Glu1459Ter) c.4339G>T (p.Glu1447Ter) c.4192G>T (p.Glu1398Ter) n.238G>T c.544-1298G>T (n.544-1298G>T) c.4168-35G>T (n.4168-35G>T) c.*1836G>T (n.*1836G>T) c.4015G>T (p.Glu1339Ter) n.4998G>T c.3837G>T c.2643-35G>T c.54-1298G>T c.4145G>T (n.4145G>T) c.4357G>T (p.Glu1453Ter) c.4210G>T (p.Glu1404Ter) | |
| 4 | g.15596110A= | CA1440709972 | CC2D2A | c.4376A= (p.Glu1459=) c.4340A= (p.Glu1447=) c.4193A= (p.Glu1398=) n.239A= c.544-1297A= (n.544-1297A=) c.4168-34A= (n.4168-34A=) c.*1837A= (n.*1837A=) c.4016A= (p.Glu1339=) n.4999A= c.3838A= c.2643-34A= c.54-1297A= c.4146A= (n.4146A=) c.4358A= (p.Glu1453=) c.4211A= (p.Glu1404=) | |
| 4 | g.15596110A>C | CA129547 | CC2D2A | c.4376A>C (p.Glu1459Ala) c.4340A>C (p.Glu1447Ala) c.4193A>C (p.Glu1398Ala) n.239A>C c.544-1297A>C (n.544-1297A>C) c.4168-34A>C (n.4168-34A>C) c.*1837A>C (n.*1837A>C) c.4016A>C (p.Glu1339Ala) n.4999A>C c.3838A>C c.2643-34A>C c.54-1297A>C c.4146A>C (n.4146A>C) c.4358A>C (p.Glu1453Ala) c.4211A>C (p.Glu1404Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.15596110A>G | CA356431484 | CC2D2A | c.4376A>G (p.Glu1459Gly) c.4340A>G (p.Glu1447Gly) c.4193A>G (p.Glu1398Gly) n.239A>G c.544-1297A>G (n.544-1297A>G) c.4168-34A>G (n.4168-34A>G) c.*1837A>G (n.*1837A>G) c.4016A>G (p.Glu1339Gly) n.4999A>G c.3838A>G c.2643-34A>G c.54-1297A>G c.4146A>G (n.4146A>G) c.4358A>G (p.Glu1453Gly) c.4211A>G (p.Glu1404Gly) | |
| 4 | g.15596110A>T | CA356431485 | CC2D2A | c.4376A>T (p.Glu1459Val) c.4340A>T (p.Glu1447Val) c.4193A>T (p.Glu1398Val) n.239A>T c.544-1297A>T (n.544-1297A>T) c.4168-34A>T (n.4168-34A>T) c.*1837A>T (n.*1837A>T) c.4016A>T (p.Glu1339Val) n.4999A>T c.3838A>T c.2643-34A>T c.54-1297A>T c.4146A>T (n.4146A>T) c.4358A>T (p.Glu1453Val) c.4211A>T (p.Glu1404Val) | |
| 4 | g.15596111A= | CA1440709973 | CC2D2A | c.4377A= (p.Glu1459=) c.4341A= (p.Glu1447=) c.4194A= (p.Glu1398=) n.240A= c.544-1296A= (n.544-1296A=) c.4168-33A= (n.4168-33A=) c.*1838A= (n.*1838A=) c.4017A= (p.Glu1339=) n.5000A= c.3839A= c.2643-33A= c.54-1296A= c.4147A= (n.4147A=) c.4359A= (p.Glu1453=) c.4212A= (p.Glu1404=) | |
| 4 | g.15596111A>C | CA356431486 | CC2D2A | c.4377A>C (p.Glu1459Asp) c.4341A>C (p.Glu1447Asp) c.4194A>C (p.Glu1398Asp) n.240A>C c.544-1296A>C (n.544-1296A>C) c.4168-33A>C (n.4168-33A>C) c.*1838A>C (n.*1838A>C) c.4017A>C (p.Glu1339Asp) n.5000A>C c.3839A>C c.2643-33A>C c.54-1296A>C c.4147A>C (n.4147A>C) c.4359A>C (p.Glu1453Asp) c.4212A>C (p.Glu1404Asp) | |
| 4 | g.15596111A>G | CA438391034 | CC2D2A | c.4377A>G (p.Glu1459=) c.4341A>G (p.Glu1447=) c.4194A>G (p.Glu1398=) n.240A>G c.544-1296A>G (n.544-1296A>G) c.4168-33A>G (n.4168-33A>G) c.*1838A>G (n.*1838A>G) c.4017A>G (p.Glu1339=) n.5000A>G c.3839A>G c.2643-33A>G c.54-1296A>G c.4147A>G (n.4147A>G) c.4359A>G (p.Glu1453=) c.4212A>G (p.Glu1404=) | dbSNP |
| 4 | g.15596111A>T | CA356431487 | CC2D2A | c.4377A>T (p.Glu1459Asp) c.4341A>T (p.Glu1447Asp) c.4194A>T (p.Glu1398Asp) n.240A>T c.544-1296A>T (n.544-1296A>T) c.4168-33A>T (n.4168-33A>T) c.*1838A>T (n.*1838A>T) c.4017A>T (p.Glu1339Asp) n.5000A>T c.3839A>T c.2643-33A>T c.54-1296A>T c.4147A>T (n.4147A>T) c.4359A>T (p.Glu1453Asp) c.4212A>T (p.Glu1404Asp) | dbSNP |
| 4 | g.15596112T>A | CA356431488 | CC2D2A | c.4378T>A (p.Ser1460Thr) c.4342T>A (p.Ser1448Thr) c.4195T>A (p.Ser1399Thr) n.241T>A c.544-1295T>A (n.544-1295T>A) c.4168-32T>A (n.4168-32T>A) c.*1839T>A (n.*1839T>A) c.4018T>A (p.Ser1340Thr) n.5001T>A c.3840T>A c.2643-32T>A c.54-1295T>A c.4148T>A (n.4148T>A) c.4360T>A (p.Ser1454Thr) c.4213T>A (p.Ser1405Thr) | gnomAD v4 |
| 4 | g.15596112T>C | CA356431489 | CC2D2A | c.4378T>C (p.Ser1460Pro) c.4342T>C (p.Ser1448Pro) c.4195T>C (p.Ser1399Pro) n.241T>C c.544-1295T>C (n.544-1295T>C) c.4168-32T>C (n.4168-32T>C) c.*1839T>C (n.*1839T>C) c.4018T>C (p.Ser1340Pro) n.5001T>C c.3840T>C c.2643-32T>C c.54-1295T>C c.4148T>C (n.4148T>C) c.4360T>C (p.Ser1454Pro) c.4213T>C (p.Ser1405Pro) | |
| 4 | g.15596112T>G | CA356431490 | CC2D2A | c.4378T>G (p.Ser1460Ala) c.4342T>G (p.Ser1448Ala) c.4195T>G (p.Ser1399Ala) n.241T>G c.544-1295T>G (n.544-1295T>G) c.4168-32T>G (n.4168-32T>G) c.*1839T>G (n.*1839T>G) c.4018T>G (p.Ser1340Ala) n.5001T>G c.3840T>G c.2643-32T>G c.54-1295T>G c.4148T>G (n.4148T>G) c.4360T>G (p.Ser1454Ala) c.4213T>G (p.Ser1405Ala) | |
| 4 | g.15596113C>A | CA356431491 | CC2D2A | c.4379C>A (p.Ser1460Tyr) c.4343C>A (p.Ser1448Tyr) c.4196C>A (p.Ser1399Tyr) n.242C>A c.544-1294C>A (n.544-1294C>A) c.4168-31C>A (n.4168-31C>A) c.*1840C>A (n.*1840C>A) c.4019C>A (p.Ser1340Tyr) n.5002C>A c.3841C>A c.2643-31C>A c.54-1294C>A c.4149C>A (n.4149C>A) c.4361C>A (p.Ser1454Tyr) c.4214C>A (p.Ser1405Tyr) | |
| 4 | g.15596113C>G | CA356431492 | CC2D2A | c.4379C>G (p.Ser1460Cys) c.4343C>G (p.Ser1448Cys) c.4196C>G (p.Ser1399Cys) n.242C>G c.544-1294C>G (n.544-1294C>G) c.4168-31C>G (n.4168-31C>G) c.*1840C>G (n.*1840C>G) c.4019C>G (p.Ser1340Cys) n.5002C>G c.3841C>G c.2643-31C>G c.54-1294C>G c.4149C>G (n.4149C>G) c.4361C>G (p.Ser1454Cys) c.4214C>G (p.Ser1405Cys) | |
| 4 | g.15596113C>T | CA356431493 | CC2D2A | c.4379C>T (p.Ser1460Phe) c.4343C>T (p.Ser1448Phe) c.4196C>T (p.Ser1399Phe) n.242C>T c.544-1294C>T (n.544-1294C>T) c.4168-31C>T (n.4168-31C>T) c.*1840C>T (n.*1840C>T) c.4019C>T (p.Ser1340Phe) n.5002C>T c.3841C>T c.2643-31C>T c.54-1294C>T c.4149C>T (n.4149C>T) c.4361C>T (p.Ser1454Phe) c.4214C>T (p.Ser1405Phe) | |
| 4 | g.15596114T>A | CA438391035 | CC2D2A | c.4380T>A (p.Ser1460=) c.4344T>A (p.Ser1448=) c.4197T>A (p.Ser1399=) n.243T>A c.544-1293T>A (n.544-1293T>A) c.4168-30T>A (n.4168-30T>A) c.*1841T>A (n.*1841T>A) c.4020T>A (p.Ser1340=) n.5003T>A c.3842T>A c.2643-30T>A c.54-1293T>A c.4150T>A (n.4150T>A) c.4362T>A (p.Ser1454=) c.4215T>A (p.Ser1405=) | |
| 4 | g.15596114T>C | CA438391036 | CC2D2A | c.4380T>C (p.Ser1460=) c.4344T>C (p.Ser1448=) c.4197T>C (p.Ser1399=) n.243T>C c.544-1293T>C (n.544-1293T>C) c.4168-30T>C (n.4168-30T>C) c.*1841T>C (n.*1841T>C) c.4020T>C (p.Ser1340=) n.5003T>C c.3842T>C c.2643-30T>C c.54-1293T>C c.4150T>C (n.4150T>C) c.4362T>C (p.Ser1454=) c.4215T>C (p.Ser1405=) | |
| 4 | g.15596114T>G | CA438391037 | CC2D2A | c.4380T>G (p.Ser1460=) c.4344T>G (p.Ser1448=) c.4197T>G (p.Ser1399=) n.243T>G c.544-1293T>G (n.544-1293T>G) c.4168-30T>G (n.4168-30T>G) c.*1841T>G (n.*1841T>G) c.4020T>G (p.Ser1340=) n.5003T>G c.3842T>G c.2643-30T>G c.54-1293T>G c.4150T>G (n.4150T>G) c.4362T>G (p.Ser1454=) c.4215T>G (p.Ser1405=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.15596114T= | CA1440709974 | CC2D2A | c.4380T= (p.Ser1460=) c.4344T= (p.Ser1448=) c.4197T= (p.Ser1399=) n.243T= c.544-1293T= (n.544-1293T=) c.4168-30T= (n.4168-30T=) c.*1841T= (n.*1841T=) c.4020T= (p.Ser1340=) n.5003T= c.3842T= c.2643-30T= c.54-1293T= c.4150T= (n.4150T=) c.4362T= (p.Ser1454=) c.4215T= (p.Ser1405=) | |
| 4 | g.15596115C>A | CA356431495 | CC2D2A | c.4381C>A (p.Pro1461Thr) c.4345C>A (p.Pro1449Thr) c.4198C>A (p.Pro1400Thr) n.244C>A c.544-1292C>A (n.544-1292C>A) c.4168-29C>A (n.4168-29C>A) c.*1842C>A (n.*1842C>A) c.4021C>A (p.Pro1341Thr) n.5004C>A c.3843C>A c.2643-29C>A c.54-1292C>A c.4151C>A (n.4151C>A) c.4363C>A (p.Pro1455Thr) c.4216C>A (p.Pro1406Thr) | |
| 4 | g.15596115C= | CA1440709975 | CC2D2A | c.4381C= (p.Pro1461=) c.4345C= (p.Pro1449=) c.4198C= (p.Pro1400=) n.244C= c.544-1292C= (n.544-1292C=) c.4168-29C= (n.4168-29C=) c.*1842C= (n.*1842C=) c.4021C= (p.Pro1341=) n.5004C= c.3843C= c.2643-29C= c.54-1292C= c.4151C= (n.4151C=) c.4363C= (p.Pro1455=) c.4216C= (p.Pro1406=) | |
| 4 | g.15596115C>G | CA2864379 | CC2D2A | c.4381C>G (p.Pro1461Ala) c.4345C>G (p.Pro1449Ala) c.4198C>G (p.Pro1400Ala) n.244C>G c.544-1292C>G (n.544-1292C>G) c.4168-29C>G (n.4168-29C>G) c.*1842C>G (n.*1842C>G) c.4021C>G (p.Pro1341Ala) n.5004C>G c.3843C>G c.2643-29C>G c.54-1292C>G c.4151C>G (n.4151C>G) c.4363C>G (p.Pro1455Ala) c.4216C>G (p.Pro1406Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.15596115C>T | CA356431494 | CC2D2A | c.4381C>T (p.Pro1461Ser) c.4345C>T (p.Pro1449Ser) c.4198C>T (p.Pro1400Ser) n.244C>T c.544-1292C>T (n.544-1292C>T) c.4168-29C>T (n.4168-29C>T) c.*1842C>T (n.*1842C>T) c.4021C>T (p.Pro1341Ser) n.5004C>T c.3843C>T c.2643-29C>T c.54-1292C>T c.4151C>T (n.4151C>T) c.4363C>T (p.Pro1455Ser) c.4216C>T (p.Pro1406Ser) | COSMIC COSMIC |
| 4 | g.15596115_15596116insA | CA789451814 | CC2D2A | c.4381_4382insA (p.Pro1461HisfsTer7) c.4345_4346insA (p.Pro1449HisfsTer7) c.4198_4199insA (p.Pro1400HisfsTer7) n.244_245insA c.544-1292_544-1291insA (n.544-1292_544-1291insA) c.4168-29_4168-28insA (n.4168-29_4168-28insA) c.*1842_*1843insA (n.*1842_*1843insA) c.4021_4022insA (p.Pro1341HisfsTer7) n.5004_5005insA c.3843_3844insA c.2643-29_2643-28insA c.54-1292_54-1291insA c.4151_4152insA (n.4151_4152insA) c.4363_4364insA (p.Pro1455HisfsTer7) c.4216_4217insA (p.Pro1406HisfsTer7) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.15596116C>A | CA356431496 | CC2D2A | c.4382C>A (p.Pro1461Gln) c.4346C>A (p.Pro1449Gln) c.4199C>A (p.Pro1400Gln) n.245C>A c.544-1291C>A (n.544-1291C>A) c.4168-28C>A (n.4168-28C>A) c.*1843C>A (n.*1843C>A) c.4022C>A (p.Pro1341Gln) n.5005C>A c.3844C>A c.2643-28C>A c.54-1291C>A c.4152C>A (n.4152C>A) c.4364C>A (p.Pro1455Gln) c.4217C>A (p.Pro1406Gln) | |
| 4 | g.15596116C>G | CA356431497 | CC2D2A | c.4382C>G (p.Pro1461Arg) c.4346C>G (p.Pro1449Arg) c.4199C>G (p.Pro1400Arg) n.245C>G c.544-1291C>G (n.544-1291C>G) c.4168-28C>G (n.4168-28C>G) c.*1843C>G (n.*1843C>G) c.4022C>G (p.Pro1341Arg) n.5005C>G c.3844C>G c.2643-28C>G c.54-1291C>G c.4152C>G (n.4152C>G) c.4364C>G (p.Pro1455Arg) c.4217C>G (p.Pro1406Arg) | |
| 4 | g.15596116C>T | CA356431498 | CC2D2A | c.4382C>T (p.Pro1461Leu) c.4346C>T (p.Pro1449Leu) c.4199C>T (p.Pro1400Leu) n.245C>T c.544-1291C>T (n.544-1291C>T) c.4168-28C>T (n.4168-28C>T) c.*1843C>T (n.*1843C>T) c.4022C>T (p.Pro1341Leu) n.5005C>T c.3844C>T c.2643-28C>T c.54-1291C>T c.4152C>T (n.4152C>T) c.4364C>T (p.Pro1455Leu) c.4217C>T (p.Pro1406Leu) | |
| 4 | g.15596117A>C | CA438391040 | CC2D2A | c.4383A>C (p.Pro1461=) c.4347A>C (p.Pro1449=) c.4200A>C (p.Pro1400=) n.246A>C c.544-1290A>C (n.544-1290A>C) c.4168-27A>C (n.4168-27A>C) c.*1844A>C (n.*1844A>C) c.4023A>C (p.Pro1341=) n.5006A>C c.3845A>C c.2643-27A>C c.54-1290A>C c.4153A>C (n.4153A>C) c.4365A>C (p.Pro1455=) c.4218A>C (p.Pro1406=) | |
| 4 | g.15596117A>G | CA438391039 | CC2D2A | c.4383A>G (p.Pro1461=) c.4347A>G (p.Pro1449=) c.4200A>G (p.Pro1400=) n.246A>G c.544-1290A>G (n.544-1290A>G) c.4168-27A>G (n.4168-27A>G) c.*1844A>G (n.*1844A>G) c.4023A>G (p.Pro1341=) n.5006A>G c.3845A>G c.2643-27A>G c.54-1290A>G c.4153A>G (n.4153A>G) c.4365A>G (p.Pro1455=) c.4218A>G (p.Pro1406=) | |
| 4 | g.15596117A>T | CA438391038 | CC2D2A | c.4383A>T (p.Pro1461=) c.4347A>T (p.Pro1449=) c.4200A>T (p.Pro1400=) n.246A>T c.544-1290A>T (n.544-1290A>T) c.4168-27A>T (n.4168-27A>T) c.*1844A>T (n.*1844A>T) c.4023A>T (p.Pro1341=) n.5006A>T c.3845A>T c.2643-27A>T c.54-1290A>T c.4153A>T (n.4153A>T) c.4365A>T (p.Pro1455=) c.4218A>T (p.Pro1406=) | |
| 4 | g.15596118C>A | CA356431499 | CC2D2A | c.4384C>A (p.Leu1462Ile) c.4348C>A (p.Leu1450Ile) c.4201C>A (p.Leu1401Ile) n.247C>A c.544-1289C>A (n.544-1289C>A) c.4168-26C>A (n.4168-26C>A) c.*1845C>A (n.*1845C>A) c.4024C>A (p.Leu1342Ile) n.5007C>A c.3846C>A c.2643-26C>A c.54-1289C>A c.4154C>A (n.4154C>A) c.4366C>A (p.Leu1456Ile) c.4219C>A (p.Leu1407Ile) | |
| 4 | g.15596118C= | CA1440709976 | CC2D2A | c.4384C= (p.Leu1462=) c.4348C= (p.Leu1450=) c.4201C= (p.Leu1401=) n.247C= c.544-1289C= (n.544-1289C=) c.4168-26C= (n.4168-26C=) c.*1845C= (n.*1845C=) c.4024C= (p.Leu1342=) n.5007C= c.3846C= c.2643-26C= c.54-1289C= c.4154C= (n.4154C=) c.4366C= (p.Leu1456=) c.4219C= (p.Leu1407=) | |
| 4 | g.15596118C>G | CA356431500 | CC2D2A | c.4384C>G (p.Leu1462Val) c.4348C>G (p.Leu1450Val) c.4201C>G (p.Leu1401Val) n.247C>G c.544-1289C>G (n.544-1289C>G) c.4168-26C>G (n.4168-26C>G) c.*1845C>G (n.*1845C>G) c.4024C>G (p.Leu1342Val) n.5007C>G c.3846C>G c.2643-26C>G c.54-1289C>G c.4154C>G (n.4154C>G) c.4366C>G (p.Leu1456Val) c.4219C>G (p.Leu1407Val) | gnomAD v4 |
| 4 | g.15596118C>T | CA438391041 | CC2D2A | c.4384C>T (p.Leu1462=) c.4348C>T (p.Leu1450=) c.4201C>T (p.Leu1401=) n.247C>T c.544-1289C>T (n.544-1289C>T) c.4168-26C>T (n.4168-26C>T) c.*1845C>T (n.*1845C>T) c.4024C>T (p.Leu1342=) n.5007C>T c.3846C>T c.2643-26C>T c.54-1289C>T c.4154C>T (n.4154C>T) c.4366C>T (p.Leu1456=) c.4219C>T (p.Leu1407=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.15596119T>A | CA356431501 | CC2D2A | c.4385T>A (p.Leu1462Gln) c.4349T>A (p.Leu1450Gln) c.4202T>A (p.Leu1401Gln) n.248T>A c.544-1288T>A (n.544-1288T>A) c.4168-25T>A (n.4168-25T>A) c.*1846T>A (n.*1846T>A) c.4025T>A (p.Leu1342Gln) n.5008T>A c.3847T>A c.2643-25T>A c.54-1288T>A c.4155T>A (n.4155T>A) c.4367T>A (p.Leu1456Gln) c.4220T>A (p.Leu1407Gln) | |
| 4 | g.15596119T>C | CA356431502 | CC2D2A | c.4385T>C (p.Leu1462Pro) c.4349T>C (p.Leu1450Pro) c.4202T>C (p.Leu1401Pro) n.248T>C c.544-1288T>C (n.544-1288T>C) c.4168-25T>C (n.4168-25T>C) c.*1846T>C (n.*1846T>C) c.4025T>C (p.Leu1342Pro) n.5008T>C c.3847T>C c.2643-25T>C c.54-1288T>C c.4155T>C (n.4155T>C) c.4367T>C (p.Leu1456Pro) c.4220T>C (p.Leu1407Pro) | |
| 4 | g.15596119T>G | CA356431503 | CC2D2A | c.4385T>G (p.Leu1462Arg) c.4349T>G (p.Leu1450Arg) c.4202T>G (p.Leu1401Arg) n.248T>G c.544-1288T>G (n.544-1288T>G) c.4168-25T>G (n.4168-25T>G) c.*1846T>G (n.*1846T>G) c.4025T>G (p.Leu1342Arg) n.5008T>G c.3847T>G c.2643-25T>G c.54-1288T>G c.4155T>G (n.4155T>G) c.4367T>G (p.Leu1456Arg) c.4220T>G (p.Leu1407Arg) | |
| 4 | g.15596120A>C | CA438391044 | CC2D2A | c.4386A>C (p.Leu1462=) c.4350A>C (p.Leu1450=) c.4203A>C (p.Leu1401=) n.249A>C c.544-1287A>C (n.544-1287A>C) c.4168-24A>C (n.4168-24A>C) c.*1847A>C (n.*1847A>C) c.4026A>C (p.Leu1342=) n.5009A>C c.3848A>C c.2643-24A>C c.54-1287A>C c.4156A>C (n.4156A>C) c.4368A>C (p.Leu1456=) c.4221A>C (p.Leu1407=) | |
| 4 | g.15596120A>G | CA438391043 | CC2D2A | c.4386A>G (p.Leu1462=) c.4350A>G (p.Leu1450=) c.4203A>G (p.Leu1401=) n.249A>G c.544-1287A>G (n.544-1287A>G) c.4168-24A>G (n.4168-24A>G) c.*1847A>G (n.*1847A>G) c.4026A>G (p.Leu1342=) n.5009A>G c.3848A>G c.2643-24A>G c.54-1287A>G c.4156A>G (n.4156A>G) c.4368A>G (p.Leu1456=) c.4221A>G (p.Leu1407=) | |
| 4 | g.15596120A>T | CA438391042 | CC2D2A | c.4386A>T (p.Leu1462=) c.4350A>T (p.Leu1450=) c.4203A>T (p.Leu1401=) n.249A>T c.544-1287A>T (n.544-1287A>T) c.4168-24A>T (n.4168-24A>T) c.*1847A>T (n.*1847A>T) c.4026A>T (p.Leu1342=) n.5009A>T c.3848A>T c.2643-24A>T c.54-1287A>T c.4156A>T (n.4156A>T) c.4368A>T (p.Leu1456=) c.4221A>T (p.Leu1407=) | |
| 4 | g.15596121A>C | CA438391045 | CC2D2A | c.4387A>C (p.Arg1463=) c.4351A>C (p.Arg1451=) c.4204A>C (p.Arg1402=) n.250A>C c.544-1286A>C (n.544-1286A>C) c.4168-23A>C (n.4168-23A>C) c.*1848A>C (n.*1848A>C) c.4027A>C (p.Arg1343=) n.5010A>C c.3849A>C c.2643-23A>C c.54-1286A>C c.4157A>C (n.4157A>C) c.4369A>C (p.Arg1457=) c.4222A>C (p.Arg1408=) | ClinVar |
| 4 | g.15596121A>G | CA356431504 | CC2D2A | c.4387A>G (p.Arg1463Gly) c.4351A>G (p.Arg1451Gly) c.4204A>G (p.Arg1402Gly) n.250A>G c.544-1286A>G (n.544-1286A>G) c.4168-23A>G (n.4168-23A>G) c.*1848A>G (n.*1848A>G) c.4027A>G (p.Arg1343Gly) n.5010A>G c.3849A>G c.2643-23A>G c.54-1286A>G c.4157A>G (n.4157A>G) c.4369A>G (p.Arg1457Gly) c.4222A>G (p.Arg1408Gly) | |
| 4 | g.15596121A>T | CA356431505 | CC2D2A | c.4387A>T (p.Arg1463Trp) c.4351A>T (p.Arg1451Trp) c.4204A>T (p.Arg1402Trp) n.250A>T c.544-1286A>T (n.544-1286A>T) c.4168-23A>T (n.4168-23A>T) c.*1848A>T (n.*1848A>T) c.4027A>T (p.Arg1343Trp) n.5010A>T c.3849A>T c.2643-23A>T c.54-1286A>T c.4157A>T (n.4157A>T) c.4369A>T (p.Arg1457Trp) c.4222A>T (p.Arg1408Trp) | |
| 4 | g.15596122G>A | CA356431507 | CC2D2A | c.4388G>A (p.Arg1463Lys) c.4352G>A (p.Arg1451Lys) c.4205G>A (p.Arg1402Lys) n.251G>A c.544-1285G>A (n.544-1285G>A) c.4168-22G>A (n.4168-22G>A) c.*1849G>A (n.*1849G>A) c.4028G>A (p.Arg1343Lys) n.5011G>A c.3850G>A c.2643-22G>A c.54-1285G>A c.4158G>A (n.4158G>A) c.4370G>A (p.Arg1457Lys) c.4223G>A (p.Arg1408Lys) | dbSNP |