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 |
|---|---|---|---|---|---|
| 1 | g.15930585G>A | CA338613868 | SPEN | c.*5196G>A (n.*5196G>A) c.4345G>A (p.Glu1449Lys) | |
| 1 | g.15930585G>C | CA338613866 | SPEN | c.*5196G>C (n.*5196G>C) c.4345G>C (p.Glu1449Gln) | |
| 1 | g.15930585G>T | CA338613864 | SPEN | c.*5196G>T (n.*5196G>T) c.4345G>T (p.Glu1449Ter) | ClinVar dbSNP |
| 1 | g.15930586A= | CA1155574163 | SPEN | c.*5197A= (n.*5197A=) c.4346A= (p.Glu1449=) | |
| 1 | g.15930586A>C | CA338613871 | SPEN | c.*5197A>C (n.*5197A>C) c.4346A>C (p.Glu1449Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.15930586A>G | CA338613872 | SPEN | c.*5197A>G (n.*5197A>G) c.4346A>G (p.Glu1449Gly) | COSMIC |
| 1 | g.15930586A>T | CA338613873 | SPEN | c.*5197A>T (n.*5197A>T) c.4346A>T (p.Glu1449Val) | |
| 1 | g.15930587A= | CA1155574166 | SPEN | c.*5198A= (n.*5198A=) c.4347A= (p.Glu1449=) | |
| 1 | g.15930587A>C | CA338613875 | SPEN | c.*5198A>C (n.*5198A>C) c.4347A>C (p.Glu1449Asp) | |
| 1 | g.15930587A>G | CA416380359 | SPEN | c.*5198A>G (n.*5198A>G) c.4347A>G (p.Glu1449=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.15930587A>T | CA338613877 | SPEN | c.*5198A>T (n.*5198A>T) c.4347A>T (p.Glu1449Asp) | |
| 1 | g.15930588A>C | CA416380360 | SPEN | c.*5199A>C (n.*5199A>C) c.4348A>C (p.Arg1450=) | |
| 1 | g.15930588A>G | CA338613880 | SPEN | c.*5199A>G (n.*5199A>G) c.4348A>G (p.Arg1450Gly) | |
| 1 | g.15930588A>T | CA338613882 | SPEN | c.*5199A>T (n.*5199A>T) c.4348A>T (p.Arg1450Ter) | |
| 1 | g.15930589G>A | CA338613884 | SPEN | c.*5200G>A (n.*5200G>A) c.4349G>A (p.Arg1450Lys) | |
| 1 | g.15930589G>C | CA338613885 | SPEN | c.*5200G>C (n.*5200G>C) c.4349G>C (p.Arg1450Thr) | |
| 1 | g.15930589G>T | CA338613886 | SPEN | c.*5200G>T (n.*5200G>T) c.4349G>T (p.Arg1450Ile) | |
| 1 | g.15930590A>C | CA338613893 | SPEN | c.*5201A>C (n.*5201A>C) c.4350A>C (p.Arg1450Ser) | gnomAD v4 |
| 1 | g.15930590A>G | CA416380364 | SPEN | c.*5201A>G (n.*5201A>G) c.4350A>G (p.Arg1450=) | |
| 1 | g.15930590A>T | CA338613896 | SPEN | c.*5201A>T (n.*5201A>T) c.4350A>T (p.Arg1450Ser) | |
| 1 | g.15930591G>A | CA338613900 | SPEN | c.*5202G>A (n.*5202G>A) c.4351G>A (p.Ala1451Thr) | COSMIC |
| 1 | g.15930591G>C | CA338613902 | SPEN | c.*5202G>C (n.*5202G>C) c.4351G>C (p.Ala1451Pro) | |
| 1 | g.15930591G>T | CA338613898 | SPEN | c.*5202G>T (n.*5202G>T) c.4351G>T (p.Ala1451Ser) | |
| 1 | g.15930592C>A | CA338613905 | SPEN | c.*5203C>A (n.*5203C>A) c.4352C>A (p.Ala1451Asp) | |
| 1 | g.15930592C>G | CA338613907 | SPEN | c.*5203C>G (n.*5203C>G) c.4352C>G (p.Ala1451Gly) | |
| 1 | g.15930592C>T | CA338613909 | SPEN | c.*5203C>T (n.*5203C>T) c.4352C>T (p.Ala1451Val) | COSMIC |
| 1 | g.15930593T>A | CA416380366 | SPEN | c.*5204T>A (n.*5204T>A) c.4353T>A (p.Ala1451=) | |
| 1 | g.15930593T>C | CA416380367 | SPEN | c.*5204T>C (n.*5204T>C) c.4353T>C (p.Ala1451=) | |
| 1 | g.15930593T>G | CA416380368 | SPEN | c.*5204T>G (n.*5204T>G) c.4353T>G (p.Ala1451=) | |
| 1 | g.15930594A>C | CA338613912 | SPEN | c.*5205A>C (n.*5205A>C) c.4354A>C (p.Lys1452Gln) | |
| 1 | g.15930594A>G | CA338613914 | SPEN | c.*5205A>G (n.*5205A>G) c.4354A>G (p.Lys1452Glu) | |
| 1 | g.15930594A>T | CA338613916 | SPEN | c.*5205A>T (n.*5205A>T) c.4354A>T (p.Lys1452Ter) | |
| 1 | g.15930595A>C | CA338613921 | SPEN | c.*5206A>C (n.*5206A>C) c.4355A>C (p.Lys1452Thr) | |
| 1 | g.15930595A>G | CA338613919 | SPEN | c.*5206A>G (n.*5206A>G) c.4355A>G (p.Lys1452Arg) | gnomAD v4 |
| 1 | g.15930595A>T | CA338613920 | SPEN | c.*5206A>T (n.*5206A>T) c.4355A>T (p.Lys1452Ile) | |
| 1 | g.15930596A>C | CA338613923 | SPEN | c.*5207A>C (n.*5207A>C) c.4356A>C (p.Lys1452Asn) | |
| 1 | g.15930596A>G | CA416380371 | SPEN | c.*5207A>G (n.*5207A>G) c.4356A>G (p.Lys1452=) | |
| 1 | g.15930596A>T | CA338613925 | SPEN | c.*5207A>T (n.*5207A>T) c.4356A>T (p.Lys1452Asn) | |
| 1 | g.15930597T>A | CA338613928 | SPEN | c.*5208T>A (n.*5208T>A) c.4357T>A (p.Ser1453Thr) | dbSNP |
| 1 | g.15930597T>C | CA338613931 | SPEN | c.*5208T>C (n.*5208T>C) c.4357T>C (p.Ser1453Pro) | gnomAD v4 |
| 1 | g.15930597T>G | CA338613933 | SPEN | c.*5208T>G (n.*5208T>G) c.4357T>G (p.Ser1453Ala) | |
| 1 | g.15930597T= | CA1155574167 | SPEN | c.*5208T= (n.*5208T=) c.4357T= (p.Ser1453=) | |
| 1 | g.15930598C>A | CA338613936 | SPEN | c.*5209C>A (n.*5209C>A) c.4358C>A (p.Ser1453Tyr) | |
| 1 | g.15930598C>G | CA338613943 | SPEN | c.*5209C>G (n.*5209C>G) c.4358C>G (p.Ser1453Cys) | |
| 1 | g.15930598C>T | CA338613938 | SPEN | c.*5209C>T (n.*5209C>T) c.4358C>T (p.Ser1453Phe) | gnomAD v4 |
| 1 | g.15930599C>A | CA416380376 | SPEN | c.*5210C>A (n.*5210C>A) c.4359C>A (p.Ser1453=) | |
| 1 | g.15930599C>G | CA416380377 | SPEN | c.*5210C>G (n.*5210C>G) c.4359C>G (p.Ser1453=) | |
| 1 | g.15930599C>T | CA416380378 | SPEN | c.*5210C>T (n.*5210C>T) c.4359C>T (p.Ser1453=) | COSMIC |
| 1 | g.15930600C>A | CA338613946 | SPEN | c.*5211C>A (n.*5211C>A) c.4360C>A (p.Leu1454Ile) | |
| 1 | g.15930600C= | CA1148403983 | SPEN | c.*5211C= (n.*5211C=) c.4360C= (p.Leu1454=) | |
| 1 | g.15930600C>G | CA619570 | SPEN | c.*5211C>G (n.*5211C>G) c.4360C>G (p.Leu1454Val) | dbSNP ExAC gnomAD v2 |
| 1 | g.15930600C>T | CA338613950 | SPEN | c.*5211C>T (n.*5211C>T) c.4360C>T (p.Leu1454Phe) | gnomAD v4 |
| 1 | g.15930601T>A | CA338613953 | SPEN | c.*5212T>A (n.*5212T>A) c.4361T>A (p.Leu1454His) | |
| 1 | g.15930601T>C | CA338613955 | SPEN | c.*5212T>C (n.*5212T>C) c.4361T>C (p.Leu1454Pro) | |
| 1 | g.15930601T>G | CA338613958 | SPEN | c.*5212T>G (n.*5212T>G) c.4361T>G (p.Leu1454Arg) | |
| 1 | g.15930602C>A | CA416380379 | SPEN | c.*5213C>A (n.*5213C>A) c.4362C>A (p.Leu1454=) | |
| 1 | g.15930602C>G | CA416380380 | SPEN | c.*5213C>G (n.*5213C>G) c.4362C>G (p.Leu1454=) | gnomAD v4 |
| 1 | g.15930602C>T | CA416380382 | SPEN | c.*5213C>T (n.*5213C>T) c.4362C>T (p.Leu1454=) | gnomAD v4 |
| 1 | g.15930603T>A | CA338613961 | SPEN | c.*5214T>A (n.*5214T>A) c.4363T>A (p.Ser1455Thr) | |
| 1 | g.15930603T>C | CA338613963 | SPEN | c.*5214T>C (n.*5214T>C) c.4363T>C (p.Ser1455Pro) | |
| 1 | g.15930603T>G | CA338613964 | SPEN | c.*5214T>G (n.*5214T>G) c.4363T>G (p.Ser1455Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.15930603T= | CA1155574171 | SPEN | c.*5214T= (n.*5214T=) c.4363T= (p.Ser1455=) | |
| 1 | g.15930604C>A | CA338613965 | SPEN | c.*5215C>A (n.*5215C>A) c.4364C>A (p.Ser1455Tyr) | |
| 1 | g.15930604C= | CA1155574196 | SPEN | c.*5215C= (n.*5215C=) c.4364C= (p.Ser1455=) | |
| 1 | g.15930604C>G | CA338613968 | SPEN | c.*5215C>G (n.*5215C>G) c.4364C>G (p.Ser1455Cys) | |
| 1 | g.15930604C>T | CA18278198 | SPEN | c.*5215C>T (n.*5215C>T) c.4364C>T (p.Ser1455Phe) | dbSNP COSMIC |
| 1 | g.15930604_15930606delinsCTT | CA1155574178 | SPEN | c.*5215_*5217delinsCTT (n.*5215_*5217delinsCTT) c.4364_4366delinsCTT (p.Ser1455=) | |
| 1 | g.15930605T>A | CA416380391 | SPEN | c.*5216T>A (n.*5216T>A) c.4365T>A (p.Ser1455=) | |
| 1 | g.15930605T>C | CA416380390 | SPEN | c.*5216T>C (n.*5216T>C) c.4365T>C (p.Ser1455=) | gnomAD v4 |
| 1 | g.15930605T>G | CA416380389 | SPEN | c.*5216T>G (n.*5216T>G) c.4365T>G (p.Ser1455=) | |
| 1 | g.15930605_15930606del | CA521459528 | SPEN | c.*5216_*5217del (n.*5216_*5217del) c.4365_4366del (p.Ser1456IlefsTer3) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.15930606T>A | CA338613974 | SPEN | c.*5217T>A (n.*5217T>A) c.4366T>A (p.Ser1456Thr) | |
| 1 | g.15930606T>C | CA338613976 | SPEN | c.*5217T>C (n.*5217T>C) c.4366T>C (p.Ser1456Pro) | |
| 1 | g.15930606T>G | CA338613972 | SPEN | c.*5217T>G (n.*5217T>G) c.4366T>G (p.Ser1456Ala) | |
| 1 | g.15930607C>A | CA338613983 | SPEN | c.*5218C>A (n.*5218C>A) c.4367C>A (p.Ser1456Ter) | |
| 1 | g.15930607C>G | CA338613981 | SPEN | c.*5218C>G (n.*5218C>G) c.4367C>G (p.Ser1456Ter) | |
| 1 | g.15930607C>T | CA338613985 | SPEN | c.*5218C>T (n.*5218C>T) c.4367C>T (p.Ser1456Leu) | |
| 1 | g.15930608A= | CA1155574202 | SPEN | c.*5219A= (n.*5219A=) c.4368A= (p.Ser1456=) | |
| 1 | g.15930608A>C | CA416380395 | SPEN | c.*5219A>C (n.*5219A>C) c.4368A>C (p.Ser1456=) | |
| 1 | g.15930608A>G | CA416380396 | SPEN | c.*5219A>G (n.*5219A>G) c.4368A>G (p.Ser1456=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.15930608A>T | CA416380397 | SPEN | c.*5219A>T (n.*5219A>T) c.4368A>T (p.Ser1456=) | |
| 1 | g.15930608_15930609del | CA2502518848 | SPEN | c.*5219_*5220del (n.*5219_*5220del) c.4368_4369del (p.Arg1458Ter) | |
| 1 | g.15930609T>A | CA338613988 | SPEN | c.*5220T>A (n.*5220T>A) c.4369T>A (p.Ser1457Thr) | |
| 1 | g.15930609T>C | CA338613991 | SPEN | c.*5220T>C (n.*5220T>C) c.4369T>C (p.Ser1457Pro) | |
| 1 | g.15930609T>G | CA338613989 | SPEN | c.*5220T>G (n.*5220T>G) c.4369T>G (p.Ser1457Ala) | COSMIC |
| 1 | g.15930610C>A | CA338613995 | SPEN | c.*5221C>A (n.*5221C>A) c.4370C>A (p.Ser1457Tyr) | |
| 1 | g.15930610C>G | CA338614000 | SPEN | c.*5221C>G (n.*5221C>G) c.4370C>G (p.Ser1457Cys) | |
| 1 | g.15930610C>T | CA338613997 | SPEN | c.*5221C>T (n.*5221C>T) c.4370C>T (p.Ser1457Phe) | |
| 1 | g.15930611T>A | CA416380400 | SPEN | c.*5222T>A (n.*5222T>A) c.4371T>A (p.Ser1457=) | |
| 1 | g.15930611T>C | CA416380401 | SPEN | c.*5222T>C (n.*5222T>C) c.4371T>C (p.Ser1457=) | |
| 1 | g.15930611T>G | CA416380402 | SPEN | c.*5222T>G (n.*5222T>G) c.4371T>G (p.Ser1457=) | |
| 1 | g.15930612C>A | CA338614003 | SPEN | c.*5223C>A (n.*5223C>A) c.4372C>A (p.Arg1458Ser) | gnomAD v4 |
| 1 | g.15930612C= | CA1155574208 | SPEN | c.*5223C= (n.*5223C=) c.4372C= (p.Arg1458=) | |
| 1 | g.15930612C>G | CA338614007 | SPEN | c.*5223C>G (n.*5223C>G) c.4372C>G (p.Arg1458Gly) | |
| 1 | g.15930612C>T | CA338614005 | SPEN | c.*5223C>T (n.*5223C>T) c.4372C>T (p.Arg1458Cys) | dbSNP gnomAD v4 COSMIC |
| 1 | g.15930612_15930613insCA | CA2560162179 | SPEN | c.*5223_*5224insCA (n.*5223_*5224insCA) c.4372_4373insCA (p.Arg1458ProfsTer?) | |
| 1 | g.15930613G>A | CA619571 | SPEN | c.*5224G>A (n.*5224G>A) c.4373G>A (p.Arg1458His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.15930613G>C | CA338614010 | SPEN | c.*5224G>C (n.*5224G>C) c.4373G>C (p.Arg1458Pro) | dbSNP |
| 1 | g.15930613G= | CA1155574213 | SPEN | c.*5224G= (n.*5224G=) c.4373G= (p.Arg1458=) | |
| 1 | g.15930613G>T | CA338614012 | SPEN | c.*5224G>T (n.*5224G>T) c.4373G>T (p.Arg1458Leu) | COSMIC |
| 1 | g.15930614T>A | CA416380404 | SPEN | c.*5225T>A (n.*5225T>A) c.4374T>A (p.Arg1458=) | |
| 1 | g.15930614T>C | CA416380406 | SPEN | c.*5225T>C (n.*5225T>C) c.4374T>C (p.Arg1458=) | |
| 1 | g.15930614T>G | CA416380409 | SPEN | c.*5225T>G (n.*5225T>G) c.4374T>G (p.Arg1458=) | |
| 1 | g.15930615G>A | CA18278202 | SPEN | c.*5226G>A (n.*5226G>A) c.4375G>A (p.Glu1459Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15930615G>C | CA338614020 | SPEN | c.*5226G>C (n.*5226G>C) c.4375G>C (p.Glu1459Gln) | |
| 1 | g.15930615G= | CA1155574227 | SPEN | c.*5226G= (n.*5226G=) c.4375G= (p.Glu1459=) | |
| 1 | g.15930615G>T | CA338614022 | SPEN | c.*5226G>T (n.*5226G>T) c.4375G>T (p.Glu1459Ter) | |
| 1 | g.15930616A>C | CA338614025 | SPEN | c.*5227A>C (n.*5227A>C) c.4376A>C (p.Glu1459Ala) | |
| 1 | g.15930616A>G | CA338614027 | SPEN | c.*5227A>G (n.*5227A>G) c.4376A>G (p.Glu1459Gly) | |
| 1 | g.15930616A>T | CA338614030 | SPEN | c.*5227A>T (n.*5227A>T) c.4376A>T (p.Glu1459Val) | |
| 1 | g.15930617A>C | CA338614033 | SPEN | c.*5228A>C (n.*5228A>C) c.4377A>C (p.Glu1459Asp) | |
| 1 | g.15930617A>G | CA416380421 | SPEN | c.*5228A>G (n.*5228A>G) c.4377A>G (p.Glu1459=) | |
| 1 | g.15930617A>T | CA338614034 | SPEN | c.*5228A>T (n.*5228A>T) c.4377A>T (p.Glu1459Asp) | |
| 1 | g.15930618G>A | CA619572 | SPEN | c.*5229G>A (n.*5229G>A) c.4378G>A (p.Glu1460Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.15930618G>C | CA338614036 | SPEN | c.*5229G>C (n.*5229G>C) c.4378G>C (p.Glu1460Gln) | |
| 1 | g.15930618G= | CA1155574234 | SPEN | c.*5229G= (n.*5229G=) c.4378G= (p.Glu1460=) | |
| 1 | g.15930618G>T | CA338614037 | SPEN | c.*5229G>T (n.*5229G>T) c.4378G>T (p.Glu1460Ter) | |
| 1 | g.15930619A>C | CA338614043 | SPEN | c.*5230A>C (n.*5230A>C) c.4379A>C (p.Glu1460Ala) | |
| 1 | g.15930619A>G | CA338614044 | SPEN | c.*5230A>G (n.*5230A>G) c.4379A>G (p.Glu1460Gly) | |
| 1 | g.15930619A>T | CA338614046 | SPEN | c.*5230A>T (n.*5230A>T) c.4379A>T (p.Glu1460Val) | |
| 1 | g.15930620A>C | CA338614049 | SPEN | c.*5231A>C (n.*5231A>C) c.4380A>C (p.Glu1460Asp) | |
| 1 | g.15930620A>G | CA416380427 | SPEN | c.*5231A>G (n.*5231A>G) c.4380A>G (p.Glu1460=) | |
| 1 | g.15930620A>T | CA338614051 | SPEN | c.*5231A>T (n.*5231A>T) c.4380A>T (p.Glu1460Asp) | |
| 1 | g.15930621A>C | CA338614054 | SPEN | c.*5232A>C (n.*5232A>C) c.4381A>C (p.Asn1461His) | |
| 1 | g.15930621A>G | CA338614056 | SPEN | c.*5232A>G (n.*5232A>G) c.4381A>G (p.Asn1461Asp) | |
| 1 | g.15930621A>T | CA338614057 | SPEN | c.*5232A>T (n.*5232A>T) c.4381A>T (p.Asn1461Tyr) | |
| 1 | g.15930622A>C | CA338614058 | SPEN | c.*5233A>C (n.*5233A>C) c.4382A>C (p.Asn1461Thr) | |
| 1 | g.15930622A>G | CA338614059 | SPEN | c.*5233A>G (n.*5233A>G) c.4382A>G (p.Asn1461Ser) | gnomAD v4 |
| 1 | g.15930622A>T | CA338614060 | SPEN | c.*5233A>T (n.*5233A>T) c.4382A>T (p.Asn1461Ile) | |
| 1 | g.15930623T>A | CA338614061 | SPEN | c.*5234T>A (n.*5234T>A) c.4383T>A (p.Asn1461Lys) | |
| 1 | g.15930623T>C | CA416380435 | SPEN | c.*5234T>C (n.*5234T>C) c.4383T>C (p.Asn1461=) | |
| 1 | g.15930623T>G | CA338614062 | SPEN | c.*5234T>G (n.*5234T>G) c.4383T>G (p.Asn1461Lys) | |
| 1 | g.15930624T>A | CA338614063 | SPEN | c.*5235T>A (n.*5235T>A) c.4384T>A (p.Trp1462Arg) | |
| 1 | g.15930624T>C | CA338614065 | SPEN | c.*5235T>C (n.*5235T>C) c.4384T>C (p.Trp1462Arg) | |
| 1 | g.15930624T>G | CA338614067 | SPEN | c.*5235T>G (n.*5235T>G) c.4384T>G (p.Trp1462Gly) | |
| 1 | g.15930625G>A | CA338614069 | SPEN | c.*5236G>A (n.*5236G>A) c.4385G>A (p.Trp1462Ter) | |
| 1 | g.15930625G>C | CA338614071 | SPEN | c.*5236G>C (n.*5236G>C) c.4385G>C (p.Trp1462Ser) | |
| 1 | g.15930625G>T | CA338614072 | SPEN | c.*5236G>T (n.*5236G>T) c.4385G>T (p.Trp1462Leu) | |
| 1 | g.15930626G>A | CA338614074 | SPEN | c.*5237G>A (n.*5237G>A) c.4386G>A (p.Trp1462Ter) | |
| 1 | g.15930626G>C | CA338614076 | SPEN | c.*5237G>C (n.*5237G>C) c.4386G>C (p.Trp1462Cys) | |
| 1 | g.15930626G= | CA1155574239 | SPEN | c.*5237G= (n.*5237G=) c.4386G= (p.Trp1462=) | |
| 1 | g.15930626G>T | CA338614077 | SPEN | c.*5237G>T (n.*5237G>T) c.4386G>T (p.Trp1462Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.15930627T>A | CA338614078 | SPEN | c.*5238T>A (n.*5238T>A) c.4387T>A (p.Ser1463Thr) | |
| 1 | g.15930627T>C | CA338614081 | SPEN | c.*5238T>C (n.*5238T>C) c.4387T>C (p.Ser1463Pro) | |
| 1 | g.15930627T>G | CA338614083 | SPEN | c.*5238T>G (n.*5238T>G) c.4387T>G (p.Ser1463Ala) | |
| 1 | g.15930628C>A | CA338614091 | SPEN | c.*5239C>A (n.*5239C>A) c.4388C>A (p.Ser1463Tyr) | dbSNP |
| 1 | g.15930628C= | CA1155574243 | SPEN | c.*5239C= (n.*5239C=) c.4388C= (p.Ser1463=) | |
| 1 | g.15930628C>G | CA338614086 | SPEN | c.*5239C>G (n.*5239C>G) c.4388C>G (p.Ser1463Cys) | |
| 1 | g.15930628C>T | CA338614088 | SPEN | c.*5239C>T (n.*5239C>T) c.4388C>T (p.Ser1463Phe) | |
| 1 | g.15930629T>A | CA416379997 | SPEN | c.*5240T>A (n.*5240T>A) c.4389T>A (p.Ser1463=) | |
| 1 | g.15930629T>C | CA416380003 | SPEN | c.*5240T>C (n.*5240T>C) c.4389T>C (p.Ser1463=) | |
| 1 | g.15930629T>G | CA416379999 | SPEN | c.*5240T>G (n.*5240T>G) c.4389T>G (p.Ser1463=) | |
| 1 | g.15930630T>A | CA338614094 | SPEN | c.*5241T>A (n.*5241T>A) c.4390T>A (p.Phe1464Ile) | |
| 1 | g.15930630T>C | CA338614096 | SPEN | c.*5241T>C (n.*5241T>C) c.4390T>C (p.Phe1464Leu) | |
| 1 | g.15930630T>G | CA338614098 | SPEN | c.*5241T>G (n.*5241T>G) c.4390T>G (p.Phe1464Val) | |
| 1 | g.15930631T>A | CA338614103 | SPEN | c.*5242T>A (n.*5242T>A) c.4391T>A (p.Phe1464Tyr) | |
| 1 | g.15930631T>C | CA338614108 | SPEN | c.*5242T>C (n.*5242T>C) c.4391T>C (p.Phe1464Ser) | |
| 1 | g.15930631T>G | CA338614111 | SPEN | c.*5242T>G (n.*5242T>G) c.4391T>G (p.Phe1464Cys) | |
| 1 | g.15930632T>A | CA338614116 | SPEN | c.*5243T>A (n.*5243T>A) c.4392T>A (p.Phe1464Leu) | gnomAD v4 |
| 1 | g.15930632T>C | CA416380013 | SPEN | c.*5243T>C (n.*5243T>C) c.4392T>C (p.Phe1464=) | |
| 1 | g.15930632T>G | CA338614121 | SPEN | c.*5243T>G (n.*5243T>G) c.4392T>G (p.Phe1464Leu) | |
| 1 | g.15930633C>A | CA338614124 | SPEN | c.*5244C>A (n.*5244C>A) c.4393C>A (p.Leu1465Ile) | |
| 1 | g.15930633C>G | CA338614125 | SPEN | c.*5244C>G (n.*5244C>G) c.4393C>G (p.Leu1465Val) | |
| 1 | g.15930633C>T | CA338614128 | SPEN | c.*5244C>T (n.*5244C>T) c.4393C>T (p.Leu1465Phe) | |
| 1 | g.15930634T>A | CA338614133 | SPEN | c.*5245T>A (n.*5245T>A) c.4394T>A (p.Leu1465His) | |
| 1 | g.15930634T>C | CA338614131 | SPEN | c.*5245T>C (n.*5245T>C) c.4394T>C (p.Leu1465Pro) | dbSNP |
| 1 | g.15930634T>G | CA338614129 | SPEN | c.*5245T>G (n.*5245T>G) c.4394T>G (p.Leu1465Arg) | |
| 1 | g.15930635T>A | CA416380022 | SPEN | c.*5246T>A (n.*5246T>A) c.4395T>A (p.Leu1465=) | |
| 1 | g.15930635T>C | CA416380023 | SPEN | c.*5246T>C (n.*5246T>C) c.4395T>C (p.Leu1465=) | |
| 1 | g.15930635T>G | CA416380029 | SPEN | c.*5246T>G (n.*5246T>G) c.4395T>G (p.Leu1465=) | |
| 1 | g.15930636G>A | CA338614138 | SPEN | c.*5247G>A (n.*5247G>A) c.4396G>A (p.Asp1466Asn) | |
| 1 | g.15930636G>C | CA338614141 | SPEN | c.*5247G>C (n.*5247G>C) c.4396G>C (p.Asp1466His) | |
| 1 | g.15930636G>T | CA338614145 | SPEN | c.*5247G>T (n.*5247G>T) c.4396G>T (p.Asp1466Tyr) | |
| 1 | g.15930637A>C | CA338614149 | SPEN | c.*5248A>C (n.*5248A>C) c.4397A>C (p.Asp1466Ala) | |
| 1 | g.15930637A>G | CA338614151 | SPEN | c.*5248A>G (n.*5248A>G) c.4397A>G (p.Asp1466Gly) | |
| 1 | g.15930637A>T | CA338614154 | SPEN | c.*5248A>T (n.*5248A>T) c.4397A>T (p.Asp1466Val) | |
| 1 | g.15930638T>A | CA338614158 | SPEN | c.*5249T>A (n.*5249T>A) c.4398T>A (p.Asp1466Glu) | |
| 1 | g.15930638T>C | CA416380041 | SPEN | c.*5249T>C (n.*5249T>C) c.4398T>C (p.Asp1466=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.15930638T>G | CA338614157 | SPEN | c.*5249T>G (n.*5249T>G) c.4398T>G (p.Asp1466Glu) | |
| 1 | g.15930638T= | CA1155574247 | SPEN | c.*5249T= (n.*5249T=) c.4398T= (p.Asp1466=) | |
| 1 | g.15930639T>A | CA338614159 | SPEN | c.*5250T>A (n.*5250T>A) c.4399T>A (p.Trp1467Arg) | |
| 1 | g.15930639T>C | CA338614161 | SPEN | c.*5250T>C (n.*5250T>C) c.4399T>C (p.Trp1467Arg) | |
| 1 | g.15930639T>G | CA338614163 | SPEN | c.*5250T>G (n.*5250T>G) c.4399T>G (p.Trp1467Gly) | |
| 1 | g.15930640G>A | CA338614167 | SPEN | c.*5251G>A (n.*5251G>A) c.4400G>A (p.Trp1467Ter) | |
| 1 | g.15930640G>C | CA338614168 | SPEN | c.*5251G>C (n.*5251G>C) c.4400G>C (p.Trp1467Ser) | |
| 1 | g.15930640G>T | CA338614173 | SPEN | c.*5251G>T (n.*5251G>T) c.4400G>T (p.Trp1467Leu) | |
| 1 | g.15930641G>A | CA338614181 | SPEN | c.*5252G>A (n.*5252G>A) c.4401G>A (p.Trp1467Ter) | |
| 1 | g.15930641G>C | CA338614177 | SPEN | c.*5252G>C (n.*5252G>C) c.4401G>C (p.Trp1467Cys) | |
| 1 | g.15930641G>T | CA338614179 | SPEN | c.*5252G>T (n.*5252G>T) c.4401G>T (p.Trp1467Cys) | |
| 1 | g.15930642G>A | CA338614183 | SPEN | c.*5253G>A (n.*5253G>A) c.4402G>A (p.Asp1468Asn) | |
| 1 | g.15930642G>C | CA338614187 | SPEN | c.*5253G>C (n.*5253G>C) c.4402G>C (p.Asp1468His) | |
| 1 | g.15930642G>T | CA338614193 | SPEN | c.*5253G>T (n.*5253G>T) c.4402G>T (p.Asp1468Tyr) | |
| 1 | g.15930643A>C | CA338614196 | SPEN | c.*5254A>C (n.*5254A>C) c.4403A>C (p.Asp1468Ala) | gnomAD v4 |
| 1 | g.15930643A>G | CA338614197 | SPEN | c.*5254A>G (n.*5254A>G) c.4403A>G (p.Asp1468Gly) | |
| 1 | g.15930643A>T | CA338614198 | SPEN | c.*5254A>T (n.*5254A>T) c.4403A>T (p.Asp1468Val) | |
| 1 | g.15930644C>A | CA338614202 | SPEN | c.*5255C>A (n.*5255C>A) c.1C>A c.4404C>A (p.Asp1468Glu) | |
| 1 | g.15930644C= | CA1149145101 | SPEN | c.*5255C= (n.*5255C=) c.1C= c.4404C= (p.Asp1468=) | |
| 1 | g.15930644C>G | CA338614205 | SPEN | c.*5255C>G (n.*5255C>G) c.1C>G c.4404C>G (p.Asp1468Glu) | gnomAD v4 |
| 1 | g.15930644C>T | CA619573 | SPEN | c.*5255C>T (n.*5255C>T) c.1C>T c.4404C>T (p.Asp1468=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15930645T>A | CA338614212 | SPEN | c.*5256T>A (n.*5256T>A) c.2T>A c.4405T>A (p.Ser1469Thr) | |
| 1 | g.15930645T>C | CA338614228 | SPEN | c.*5256T>C (n.*5256T>C) c.2T>C c.4405T>C (p.Ser1469Pro) | |
| 1 | g.15930645T>G | CA338614246 | SPEN | c.*5256T>G (n.*5256T>G) c.2T>G c.4405T>G (p.Ser1469Ala) | |
| 1 | g.15930645_15930646delinsTC | CA1155574255 | SPEN | c.*5256_*5257delinsTC (n.*5256_*5257delinsTC) c.2_3delinsTC c.4405_4406delinsTC (p.Ser1469=) | |
| 1 | g.15930646C>A | CA338614249 | SPEN | c.*5257C>A (n.*5257C>A) c.3C>A c.4406C>A (p.Ser1469Tyr) | |
| 1 | g.15930646C>G | CA338614253 | SPEN | c.*5257C>G (n.*5257C>G) c.3C>G c.4406C>G (p.Ser1469Cys) | |
| 1 | g.15930646C>T | CA338614251 | SPEN | c.*5257C>T (n.*5257C>T) c.3C>T c.4406C>T (p.Ser1469Phe) | gnomAD v4 COSMIC |
| 1 | g.15930648del | CA890018300 | SPEN | c.*5259del (n.*5259del) c.5del c.4408del (p.Arg1470AspfsTer26) | dbSNP |
| 1 | g.15930647C>A | CA416380074 | SPEN | c.*5258C>A (n.*5258C>A) c.4C>A c.4407C>A (p.Ser1469=) | |
| 1 | g.15930647C>G | CA416380073 | SPEN | c.*5258C>G (n.*5258C>G) c.4C>G c.4407C>G (p.Ser1469=) | |
| 1 | g.15930647C>T | CA416380075 | SPEN | c.*5258C>T (n.*5258C>T) c.4C>T c.4407C>T (p.Ser1469=) | COSMIC |
| 1 | g.15930648C>A | CA416380076 | SPEN | c.*5259C>A (n.*5259C>A) c.5C>A c.4408C>A (p.Arg1470=) | |
| 1 | g.15930648C= | CA1155574261 | SPEN | c.*5259C= (n.*5259C=) c.5C= c.4408C= (p.Arg1470=) | |
| 1 | g.15930648C>G | CA619574 | SPEN | c.*5259C>G (n.*5259C>G) c.5C>G c.4408C>G (p.Arg1470Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.15930648C>T | CA338614259 | SPEN | c.*5259C>T (n.*5259C>T) c.5C>T c.4408C>T (p.Arg1470Ter) | ClinVar dbSNP |
| 1 | g.15930649G>A | CA619575 | SPEN | c.*5260G>A (n.*5260G>A) c.6G>A c.4409G>A (p.Arg1470Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15930649G>C | CA338614260 | SPEN | c.*5260G>C (n.*5260G>C) c.6G>C c.4409G>C (p.Arg1470Pro) | |
| 1 | g.15930649G= | CA1155574265 | SPEN | c.*5260G= (n.*5260G=) c.6G= c.4409G= (p.Arg1470=) | |
| 1 | g.15930649G>T | CA338614262 | SPEN | c.*5260G>T (n.*5260G>T) c.6G>T c.4409G>T (p.Arg1470Leu) | |
| 1 | g.15930650A>C | CA416380079 | SPEN | c.*5261A>C (n.*5261A>C) c.7A>C c.4410A>C (p.Arg1470=) | |
| 1 | g.15930650A>G | CA416380081 | SPEN | c.*5261A>G (n.*5261A>G) c.7A>G c.4410A>G (p.Arg1470=) | |
| 1 | g.15930650A>T | CA416380082 | SPEN | c.*5261A>T (n.*5261A>T) c.7A>T c.4410A>T (p.Arg1470=) | |
| 1 | g.15930651T>A | CA338614267 | SPEN | c.*5262T>A (n.*5262T>A) c.8T>A c.4411T>A (p.Phe1471Ile) | |
| 1 | g.15930651T>C | CA338614271 | SPEN | c.*5262T>C (n.*5262T>C) c.8T>C c.4411T>C (p.Phe1471Leu) | |
| 1 | g.15930651T>G | CA338614273 | SPEN | c.*5262T>G (n.*5262T>G) c.8T>G c.4411T>G (p.Phe1471Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.15930652T>A | CA338614274 | SPEN | c.*5263T>A (n.*5263T>A) c.9T>A c.4412T>A (p.Phe1471Tyr) | |
| 1 | g.15930652T>C | CA338614275 | SPEN | c.*5263T>C (n.*5263T>C) c.9T>C c.4412T>C (p.Phe1471Ser) | gnomAD v4 |
| 1 | g.15930652T>G | CA338614276 | SPEN | c.*5263T>G (n.*5263T>G) c.9T>G c.4412T>G (p.Phe1471Cys) | |
| 1 | g.15930653T>A | CA338614278 | SPEN | c.*5264T>A (n.*5264T>A) c.10T>A c.4413T>A (p.Phe1471Leu) | |
| 1 | g.15930653T>C | CA416380094 | SPEN | c.*5264T>C (n.*5264T>C) c.10T>C c.4413T>C (p.Phe1471=) | |
| 1 | g.15930653T>G | CA338614280 | SPEN | c.*5264T>G (n.*5264T>G) c.10T>G c.4413T>G (p.Phe1471Leu) | |
| 1 | g.15930654G>A | CA338614283 | SPEN | c.*5265G>A (n.*5265G>A) c.11G>A c.4414G>A (p.Ala1472Thr) | COSMIC |
| 1 | g.15930654G>C | CA18278209 | SPEN | c.*5265G>C (n.*5265G>C) c.11G>C c.4414G>C (p.Ala1472Pro) | dbSNP |
| 1 | g.15930654G= | CA1155574268 | SPEN | c.*5265G= (n.*5265G=) c.11G= c.4414G= (p.Ala1472=) | |
| 1 | g.15930654G>T | CA338614284 | SPEN | c.*5265G>T (n.*5265G>T) c.11G>T c.4414G>T (p.Ala1472Ser) | |
| 1 | g.15930655C>A | CA338614292 | SPEN | c.*5266C>A (n.*5266C>A) c.12C>A c.4415C>A (p.Ala1472Glu) | |
| 1 | g.15930655C= | CA1155574269 | SPEN | c.*5266C= (n.*5266C=) c.12C= c.4415C= (p.Ala1472=) | |
| 1 | g.15930655C>G | CA338614313 | SPEN | c.*5266C>G (n.*5266C>G) c.12C>G c.4415C>G (p.Ala1472Gly) | |
| 1 | g.15930655C>T | CA619576 | SPEN | c.*5266C>T (n.*5266C>T) c.12C>T c.4415C>T (p.Ala1472Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.15930656A>C | CA416380102 | SPEN | c.*5267A>C (n.*5267A>C) c.13A>C c.4416A>C (p.Ala1472=) | |
| 1 | g.15930656A>G | CA416380103 | SPEN | c.*5267A>G (n.*5267A>G) c.13A>G c.4416A>G (p.Ala1472=) | |
| 1 | g.15930656A>T | CA416380104 | SPEN | c.*5267A>T (n.*5267A>T) c.13A>T c.4416A>T (p.Ala1472=) | |
| 1 | g.15930659_15930667del | CA2643540721 | SPEN | c.*5270_*5278del (n.*5270_*5278del) c.16_24del c.4419_4427del (p.Phe1474_Asn1476del) | gnomAD v4 |
| 1 | g.15930657A>C | CA338614316 | SPEN | c.*5268A>C (n.*5268A>C) c.14A>C c.4417A>C (p.Asn1473His) | |
| 1 | g.15930657A>G | CA338614317 | SPEN | c.*5268A>G (n.*5268A>G) c.14A>G c.4417A>G (p.Asn1473Asp) | |
| 1 | g.15930657A>T | CA338614318 | SPEN | c.*5268A>T (n.*5268A>T) c.14A>T c.4417A>T (p.Asn1473Tyr) | |
| 1 | g.15930658A>C | CA338614323 | SPEN | c.*5269A>C (n.*5269A>C) c.15A>C c.4418A>C (p.Asn1473Thr) | |
| 1 | g.15930658A>G | CA338614325 | SPEN | c.*5269A>G (n.*5269A>G) c.15A>G c.4418A>G (p.Asn1473Ser) | |
| 1 | g.15930658A>T | CA338614328 | SPEN | c.*5269A>T (n.*5269A>T) c.15A>T c.4418A>T (p.Asn1473Ile) | |
| 1 | g.15930659T>A | CA338614336 | SPEN | c.*5270T>A (n.*5270T>A) c.16T>A c.4419T>A (p.Asn1473Lys) | |
| 1 | g.15930659T>C | CA416380115 | SPEN | c.*5270T>C (n.*5270T>C) c.16T>C c.4419T>C (p.Asn1473=) | |
| 1 | g.15930659T>G | CA338614343 | SPEN | c.*5270T>G (n.*5270T>G) c.16T>G c.4419T>G (p.Asn1473Lys) | |
| 1 | g.15930660T>A | CA338614349 | SPEN | c.*5271T>A (n.*5271T>A) c.17T>A c.4420T>A (p.Phe1474Ile) | |
| 1 | g.15930660T>C | CA338614350 | SPEN | c.*5271T>C (n.*5271T>C) c.17T>C c.4420T>C (p.Phe1474Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.15930660T>G | CA338614346 | SPEN | c.*5271T>G (n.*5271T>G) c.17T>G c.4420T>G (p.Phe1474Val) | ClinVar |
| 1 | g.15930660T= | CA1155574273 | SPEN | c.*5271T= (n.*5271T=) c.17T= c.4420T= (p.Phe1474=) | |
| 1 | g.15930661T>A | CA338614353 | SPEN | c.*5272T>A (n.*5272T>A) c.18T>A c.4421T>A (p.Phe1474Tyr) | |
| 1 | g.15930661T>C | CA338614351 | SPEN | c.*5272T>C (n.*5272T>C) c.18T>C c.4421T>C (p.Phe1474Ser) | |
| 1 | g.15930661T>G | CA338614356 | SPEN | c.*5272T>G (n.*5272T>G) c.18T>G c.4421T>G (p.Phe1474Cys) | |
| 1 | g.15930662T>A | CA338614359 | SPEN | c.*5273T>A (n.*5273T>A) c.19T>A c.4422T>A (p.Phe1474Leu) | |
| 1 | g.15930662T>C | CA416380122 | SPEN | c.*5273T>C (n.*5273T>C) c.19T>C c.4422T>C (p.Phe1474=) | |
| 1 | g.15930662T>G | CA338614360 | SPEN | c.*5273T>G (n.*5273T>G) c.19T>G c.4422T>G (p.Phe1474Leu) | |
| 1 | g.15930663C>A | CA416380124 | SPEN | c.*5274C>A (n.*5274C>A) c.20C>A c.4423C>A (p.Arg1475=) | |
| 1 | g.15930663C>G | CA338614363 | SPEN | c.*5274C>G (n.*5274C>G) c.20C>G c.4423C>G (p.Arg1475Gly) | gnomAD v4 |
| 1 | g.15930663C>T | CA338614365 | SPEN | c.*5274C>T (n.*5274C>T) c.20C>T c.4423C>T (p.Arg1475Ter) | COSMIC |
| 1 | g.15930664G>A | CA619577 | SPEN | c.*5275G>A (n.*5275G>A) c.21G>A c.4424G>A (p.Arg1475Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.15930664G>C | CA338614370 | SPEN | c.*5275G>C (n.*5275G>C) c.21G>C c.4424G>C (p.Arg1475Pro) | |
| 1 | g.15930664G= | CA1141802923 | SPEN | c.*5275G= (n.*5275G=) c.21G= c.4424G= (p.Arg1475=) | |
| 1 | g.15930664G>T | CA338614372 | SPEN | c.*5275G>T (n.*5275G>T) c.21G>T c.4424G>T (p.Arg1475Leu) | |
| 1 | g.15930665A>C | CA416380131 | SPEN | c.*5276A>C (n.*5276A>C) c.22A>C c.4425A>C (p.Arg1475=) | |
| 1 | g.15930665A>G | CA416380129 | SPEN | c.*5276A>G (n.*5276A>G) c.22A>G c.4425A>G (p.Arg1475=) | gnomAD v4 COSMIC |
| 1 | g.15930665A>T | CA416380127 | SPEN | c.*5276A>T (n.*5276A>T) c.22A>T c.4425A>T (p.Arg1475=) | |
| 1 | g.15930666A>C | CA338614376 | SPEN | c.*5277A>C (n.*5277A>C) c.23A>C c.4426A>C (p.Asn1476His) | |
| 1 | g.15930666A>G | CA338614383 | SPEN | c.*5277A>G (n.*5277A>G) c.23A>G c.4426A>G (p.Asn1476Asp) | |
| 1 | g.15930666A>T | CA338614386 | SPEN | c.*5277A>T (n.*5277A>T) c.23A>T c.4426A>T (p.Asn1476Tyr) | |
| 1 | g.15930667A>C | CA338614388 | SPEN | c.*5278A>C (n.*5278A>C) c.24A>C c.4427A>C (p.Asn1476Thr) | |
| 1 | g.15930667A>G | CA338614390 | SPEN | c.*5278A>G (n.*5278A>G) c.24A>G c.4427A>G (p.Asn1476Ser) | |
| 1 | g.15930667A>T | CA338614391 | SPEN | c.*5278A>T (n.*5278A>T) c.24A>T c.4427A>T (p.Asn1476Ile) | |
| 1 | g.15930668C>A | CA338614395 | SPEN | c.*5279C>A (n.*5279C>A) c.25C>A c.4428C>A (p.Asn1476Lys) | |
| 1 | g.15930668C= | CA1155574280 | SPEN | c.*5279C= (n.*5279C=) c.25C= c.4428C= (p.Asn1476=) | |
| 1 | g.15930668C>G | CA338614397 | SPEN | c.*5279C>G (n.*5279C>G) c.25C>G c.4428C>G (p.Asn1476Lys) | |
| 1 | g.15930668C>T | CA416380140 | SPEN | c.*5279C>T (n.*5279C>T) c.25C>T c.4428C>T (p.Asn1476=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.15930669A= | CA1155574286 | SPEN | c.*5280A= (n.*5280A=) c.26A= c.4429A= (p.Asn1477=) | |
| 1 | g.15930669A>C | CA338614399 | SPEN | c.*5280A>C (n.*5280A>C) c.26A>C c.4429A>C (p.Asn1477His) | |
| 1 | g.15930669A>G | CA338614400 | SPEN | c.*5280A>G (n.*5280A>G) c.26A>G c.4429A>G (p.Asn1477Asp) | dbSNP gnomAD v4 |
| 1 | g.15930669A>T | CA338614401 | SPEN | c.*5280A>T (n.*5280A>T) c.26A>T c.4429A>T (p.Asn1477Tyr) | |
| 1 | g.15930670A>C | CA338614402 | SPEN | c.*5281A>C (n.*5281A>C) c.27A>C c.4430A>C (p.Asn1477Thr) | |
| 1 | g.15930670A>G | CA338614403 | SPEN | c.*5281A>G (n.*5281A>G) c.27A>G c.4430A>G (p.Asn1477Ser) | |
| 1 | g.15930670A>T | CA338614404 | SPEN | c.*5281A>T (n.*5281A>T) c.27A>T c.4430A>T (p.Asn1477Ile) | |
| 1 | g.15930671C>A | CA338614405 | SPEN | c.*5282C>A (n.*5282C>A) c.28C>A c.4431C>A (p.Asn1477Lys) | |
| 1 | g.15930671C>G | CA338614407 | SPEN | c.*5282C>G (n.*5282C>G) c.28C>G c.4431C>G (p.Asn1477Lys) | |
| 1 | g.15930671C>T | CA416380148 | SPEN | c.*5282C>T (n.*5282C>T) c.28C>T c.4431C>T (p.Asn1477=) | |
| 1 | g.15930672A>C | CA338614410 | SPEN | c.*5283A>C (n.*5283A>C) c.29A>C c.4432A>C (p.Lys1478Gln) | |
| 1 | g.15930672A>G | CA338614411 | SPEN | c.*5283A>G (n.*5283A>G) c.29A>G c.4432A>G (p.Lys1478Glu) | gnomAD v4 |
| 1 | g.15930672A>T | CA338614412 | SPEN | c.*5283A>T (n.*5283A>T) c.29A>T c.4432A>T (p.Lys1478Ter) | |
| 1 | g.15930673A>C | CA338614414 | SPEN | c.*5284A>C (n.*5284A>C) c.30A>C c.4433A>C (p.Lys1478Thr) | |
| 1 | g.15930673A>G | CA338614415 | SPEN | c.*5284A>G (n.*5284A>G) c.30A>G c.4433A>G (p.Lys1478Arg) | |
| 1 | g.15930673A>T | CA338614413 | SPEN | c.*5284A>T (n.*5284A>T) c.30A>T c.4433A>T (p.Lys1478Ile) | |
| 1 | g.15930674A= | CA1155574290 | SPEN | c.*5285A= (n.*5285A=) c.31A= c.4434A= (p.Lys1478=) | |
| 1 | g.15930674A>C | CA338614416 | SPEN | c.*5285A>C (n.*5285A>C) c.31A>C c.4434A>C (p.Lys1478Asn) | gnomAD v3 gnomAD v4 |
| 1 | g.15930674A>G | CA416380151 | SPEN | c.*5285A>G (n.*5285A>G) c.31A>G c.4434A>G (p.Lys1478=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.15930674A>T | CA338614418 | SPEN | c.*5285A>T (n.*5285A>T) c.31A>T c.4434A>T (p.Lys1478Asn) | |
| 1 | g.15930675G>A | CA338614419 | SPEN | c.*5286G>A (n.*5286G>A) c.32G>A c.4435G>A (p.Asp1479Asn) | gnomAD v4 |
| 1 | g.15930675G>C | CA338614421 | SPEN | c.*5286G>C (n.*5286G>C) c.32G>C c.4435G>C (p.Asp1479His) | COSMIC |
| 1 | g.15930675G>T | CA338614422 | SPEN | c.*5286G>T (n.*5286G>T) c.32G>T c.4435G>T (p.Asp1479Tyr) | |
| 1 | g.15930676A= | CA1155574293 | SPEN | c.*5287A= (n.*5287A=) c.33A= c.4436A= (p.Asp1479=) | |
| 1 | g.15930676A>C | CA338614425 | SPEN | c.*5287A>C (n.*5287A>C) c.33A>C c.4436A>C (p.Asp1479Ala) | |
| 1 | g.15930676A>G | CA338614427 | SPEN | c.*5287A>G (n.*5287A>G) c.33A>G c.4436A>G (p.Asp1479Gly) | dbSNP gnomAD v4 |
| 1 | g.15930676A>T | CA338614429 | SPEN | c.*5287A>T (n.*5287A>T) c.33A>T c.4436A>T (p.Asp1479Val) | |
| 1 | g.15930677T>A | CA338614433 | SPEN | c.*5288T>A (n.*5288T>A) c.34T>A c.4437T>A (p.Asp1479Glu) | |
| 1 | g.15930677T>C | CA416380154 | SPEN | c.*5288T>C (n.*5288T>C) c.34T>C c.4437T>C (p.Asp1479=) | |
| 1 | g.15930677T>G | CA338614435 | SPEN | c.*5288T>G (n.*5288T>G) c.34T>G c.4437T>G (p.Asp1479Glu) | |
| 1 | g.15930677_15930681delinsTAAAG | CA1155574296 | SPEN | c.*5288_*5292delinsTAAAG (n.*5288_*5292delinsTAAAG) c.34_38delinsTAAAG c.4437_4441delinsTAAAG (p.Asp1479=) | |
| 1 | g.15930678A>C | CA338614437 | SPEN | c.*5289A>C (n.*5289A>C) c.35A>C c.4438A>C (p.Lys1480Gln) | |
| 1 | g.15930678A>G | CA338614439 | SPEN | c.*5289A>G (n.*5289A>G) c.35A>G c.4438A>G (p.Lys1480Glu) | gnomAD v4 |
| 1 | g.15930678A>T | CA338614441 | SPEN | c.*5289A>T (n.*5289A>T) c.35A>T c.4438A>T (p.Lys1480Ter) | COSMIC |
| 1 | g.15930681_15930684del | CA645512405 | SPEN | c.*5292_*5295del (n.*5292_*5295del) c.38_41del c.4441_4444del (p.Glu1481ArgfsTer14) | dbSNP COSMIC |
| 1 | g.15930679A>C | CA338614452 | SPEN | c.*5290A>C (n.*5290A>C) c.36A>C c.4439A>C (p.Lys1480Thr) | |
| 1 | g.15930679A>G | CA338614446 | SPEN | c.*5290A>G (n.*5290A>G) c.36A>G c.4439A>G (p.Lys1480Arg) | |
| 1 | g.15930679A>T | CA338614444 | SPEN | c.*5290A>T (n.*5290A>T) c.36A>T c.4439A>T (p.Lys1480Ile) | |
| 1 | g.15930680A>C | CA338614454 | SPEN | c.*5291A>C (n.*5291A>C) c.37A>C c.4440A>C (p.Lys1480Asn) | |
| 1 | g.15930680A>G | CA416380165 | SPEN | c.*5291A>G (n.*5291A>G) c.37A>G c.4440A>G (p.Lys1480=) | |
| 1 | g.15930680A>T | CA338614456 | SPEN | c.*5291A>T (n.*5291A>T) c.37A>T c.4440A>T (p.Lys1480Asn) | |
| 1 | g.15930681G>A | CA18278215 | SPEN | c.*5292G>A (n.*5292G>A) c.38G>A c.4441G>A (p.Glu1481Lys) | dbSNP COSMIC |
| 1 | g.15930681G>C | CA338614460 | SPEN | c.*5292G>C (n.*5292G>C) c.38G>C c.4441G>C (p.Glu1481Gln) | |
| 1 | g.15930681G= | CA1142071958 | SPEN | c.*5292G= (n.*5292G=) c.38G= c.4441G= (p.Glu1481=) | |
| 1 | g.15930681G>T | CA338614462 | SPEN | c.*5292G>T (n.*5292G>T) c.38G>T c.4441G>T (p.Glu1481Ter) | |
| 1 | g.15930682A>C | CA338614465 | SPEN | c.*5293A>C (n.*5293A>C) c.39A>C c.4442A>C (p.Glu1481Ala) | |
| 1 | g.15930682A>G | CA338614467 | SPEN | c.*5293A>G (n.*5293A>G) c.39A>G c.4442A>G (p.Glu1481Gly) | |
| 1 | g.15930682A>T | CA338614468 | SPEN | c.*5293A>T (n.*5293A>T) c.39A>T c.4442A>T (p.Glu1481Val) | |
| 1 | g.15930683A= | CA1155574302 | SPEN | c.*5294A= (n.*5294A=) c.40A= c.4443A= (p.Glu1481=) | |
| 1 | g.15930683A>C | CA338614473 | SPEN | c.*5294A>C (n.*5294A>C) c.40A>C c.4443A>C (p.Glu1481Asp) | |
| 1 | g.15930683A>G | CA18278216 | SPEN | c.*5294A>G (n.*5294A>G) c.40A>G c.4443A>G (p.Glu1481=) | dbSNP |
| 1 | g.15930683A>T | CA338614478 | SPEN | c.*5294A>T (n.*5294A>T) c.40A>T c.4443A>T (p.Glu1481Asp) | |
| 1 | g.15930684A>C | CA338614482 | SPEN | c.*5295A>C (n.*5295A>C) c.41A>C c.4444A>C (p.Lys1482Gln) | |
| 1 | g.15930684A>G | CA338614492 | SPEN | c.*5295A>G (n.*5295A>G) c.41A>G c.4444A>G (p.Lys1482Glu) | |
| 1 | g.15930684A>T | CA338614494 | SPEN | c.*5295A>T (n.*5295A>T) c.41A>T c.4444A>T (p.Lys1482Ter) | |
| 1 | g.15930685A>C | CA338614504 | SPEN | c.*5296A>C (n.*5296A>C) c.42A>C c.4445A>C (p.Lys1482Thr) | |
| 1 | g.15930685A>G | CA338614501 | SPEN | c.*5296A>G (n.*5296A>G) c.42A>G c.4445A>G (p.Lys1482Arg) | |
| 1 | g.15930685A>T | CA338614497 | SPEN | c.*5296A>T (n.*5296A>T) c.42A>T c.4445A>T (p.Lys1482Met) | |
| 1 | g.15930685_15930686insTA | CA2643540722 | SPEN | c.*5296_*5297insTA (n.*5296_*5297insTA) c.42_43insTA c.4445_4446insTA (p.Lys1482AsnfsTer15) | gnomAD v4 |