| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.132340563A>C | CA360812707 | MIR3936HG,SLC22A4 | c.1445-2A>C (n.1445-2A>C) n.561-5637T>G c.917-2A>C (n.917-2A>C) c.1169-2A>C (n.1169-2A>C) | |
| 5 | g.132340563A>G | CA360812710 | MIR3936HG,SLC22A4 | c.1445-2A>G (n.1445-2A>G) n.561-5637T>C c.917-2A>G (n.917-2A>G) c.1169-2A>G (n.1169-2A>G) | |
| 5 | g.132340563A>T | CA360812713 | MIR3936HG,SLC22A4 | c.1445-2A>T (n.1445-2A>T) n.561-5637T>A c.917-2A>T (n.917-2A>T) c.1169-2A>T (n.1169-2A>T) | |
| 5 | g.132340564G>A | CA360812714 | MIR3936HG,SLC22A4 | c.1445-1G>A (n.1445-1G>A) n.561-5638C>T c.917-1G>A (n.917-1G>A) c.1169-1G>A (n.1169-1G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.132340564G>C | CA360812715 | MIR3936HG,SLC22A4 | c.1445-1G>C (n.1445-1G>C) n.561-5638C>G c.917-1G>C (n.917-1G>C) c.1169-1G>C (n.1169-1G>C) | |
| 5 | g.132340564G= | CA1583125002 | MIR3936HG,SLC22A4 | c.1445-1G= (n.1445-1G=) n.561-5638C= c.917-1G= (n.917-1G=) c.1169-1G= (n.1169-1G=) | |
| 5 | g.132340564G>T | CA360812716 | MIR3936HG,SLC22A4 | c.1445-1G>T (n.1445-1G>T) n.561-5638C>A c.917-1G>T (n.917-1G>T) c.1169-1G>T (n.1169-1G>T) | |
| 5 | g.132340564_132340565insA | CA2675193385 | MIR3936HG,SLC22A4 | c.1445-1_1445insA (n.1445-1_1445insA) n.561-5639_561-5638insT c.917-1_917insA (n.917-1_917insA) c.1169-1_1169insA (n.1169-1_1169insA) | gnomAD v4 |
| 5 | g.132340565G>A | CA360812719 | MIR3936HG,SLC22A4 | c.1445G>A (p.Gly482Asp) n.561-5639C>T c.917G>A (p.Gly306Asp) c.1169G>A (p.Gly390Asp) | gnomAD v4 |
| 5 | g.132340565G>C | CA360812721 | MIR3936HG,SLC22A4 | c.1445G>C (p.Gly482Ala) n.561-5639C>G c.917G>C (p.Gly306Ala) c.1169G>C (p.Gly390Ala) | |
| 5 | g.132340565G>T | CA360812722 | MIR3936HG,SLC22A4 | c.1445G>T (p.Gly482Val) n.561-5639C>A c.917G>T (p.Gly306Val) c.1169G>T (p.Gly390Val) | |
| 5 | g.132340566T>A | CA446339828 | MIR3936HG,SLC22A4 | c.1446T>A (p.Gly482=) n.561-5640A>T c.918T>A (p.Gly306=) c.1170T>A (p.Gly390=) | gnomAD v4 |
| 5 | g.132340566T>C | CA446339826 | MIR3936HG,SLC22A4 | c.1446T>C (p.Gly482=) n.561-5640A>G c.918T>C (p.Gly306=) c.1170T>C (p.Gly390=) | |
| 5 | g.132340566T>G | CA446339823 | MIR3936HG,SLC22A4 | c.1446T>G (p.Gly482=) n.561-5640A>C c.918T>G (p.Gly306=) c.1170T>G (p.Gly390=) | |
| 5 | g.132340567G>A | CA360812725 | MIR3936HG,SLC22A4 | c.1447G>A (p.Ala483Thr) n.561-5641C>T c.919G>A (p.Ala307Thr) c.1171G>A (p.Ala391Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.132340567G>C | CA360812734 | MIR3936HG,SLC22A4 | c.1447G>C (p.Ala483Pro) n.561-5641C>G c.919G>C (p.Ala307Pro) c.1171G>C (p.Ala391Pro) | |
| 5 | g.132340567G= | CA1583125003 | MIR3936HG,SLC22A4 | c.1447G= (p.Ala483=) n.561-5641C= c.919G= (p.Ala307=) c.1171G= (p.Ala391=) | |
| 5 | g.132340567G>T | CA360812726 | MIR3936HG,SLC22A4 | c.1447G>T (p.Ala483Ser) n.561-5641C>A c.919G>T (p.Ala307Ser) c.1171G>T (p.Ala391Ser) | |
| 5 | g.132340568C>A | CA360812739 | MIR3936HG,SLC22A4 | c.1448C>A (p.Ala483Asp) n.561-5642G>T c.920C>A (p.Ala307Asp) c.1172C>A (p.Ala391Asp) | |
| 5 | g.132340568C>G | CA360812741 | MIR3936HG,SLC22A4 | c.1448C>G (p.Ala483Gly) n.561-5642G>C c.920C>G (p.Ala307Gly) c.1172C>G (p.Ala391Gly) | |
| 5 | g.132340568C>T | CA360812743 | MIR3936HG,SLC22A4 | c.1448C>T (p.Ala483Val) n.561-5642G>A c.920C>T (p.Ala307Val) c.1172C>T (p.Ala391Val) | |
| 5 | g.132340569T>A | CA446339855 | MIR3936HG,SLC22A4 | c.1449T>A (p.Ala483=) n.561-5643A>T c.921T>A (p.Ala307=) c.1173T>A (p.Ala391=) | |
| 5 | g.132340569T>C | CA446339866 | MIR3936HG,SLC22A4 | c.1449T>C (p.Ala483=) n.561-5643A>G c.921T>C (p.Ala307=) c.1173T>C (p.Ala391=) | |
| 5 | g.132340569T>G | CA446339869 | MIR3936HG,SLC22A4 | c.1449T>G (p.Ala483=) n.561-5643A>C c.921T>G (p.Ala307=) c.1173T>G (p.Ala391=) | |
| 5 | g.132340570T>A | CA360812745 | MIR3936HG,SLC22A4 | c.1450T>A (p.Tyr484Asn) n.561-5644A>T c.922T>A (p.Tyr308Asn) c.1174T>A (p.Tyr392Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.132340570T>C | CA360812747 | MIR3936HG,SLC22A4 | c.1450T>C (p.Tyr484His) n.561-5644A>G c.922T>C (p.Tyr308His) c.1174T>C (p.Tyr392His) | gnomAD v4 |
| 5 | g.132340570T>G | CA360812748 | MIR3936HG,SLC22A4 | c.1450T>G (p.Tyr484Asp) n.561-5644A>C c.922T>G (p.Tyr308Asp) c.1174T>G (p.Tyr392Asp) | |
| 5 | g.132340570T= | CA1583125004 | MIR3936HG,SLC22A4 | c.1450T= (p.Tyr484=) n.561-5644A= c.922T= (p.Tyr308=) c.1174T= (p.Tyr392=) | |
| 5 | g.132340571A>C | CA360812754 | MIR3936HG,SLC22A4 | c.1451A>C (p.Tyr484Ser) n.561-5645T>G c.923A>C (p.Tyr308Ser) c.1175A>C (p.Tyr392Ser) | |
| 5 | g.132340571A>G | CA360812757 | MIR3936HG,SLC22A4 | c.1451A>G (p.Tyr484Cys) n.561-5645T>C c.923A>G (p.Tyr308Cys) c.1175A>G (p.Tyr392Cys) | |
| 5 | g.132340571A>T | CA360812760 | MIR3936HG,SLC22A4 | c.1451A>T (p.Tyr484Phe) n.561-5645T>A c.923A>T (p.Tyr308Phe) c.1175A>T (p.Tyr392Phe) | |
| 5 | g.132340572C>A | CA360812762 | MIR3936HG,SLC22A4 | c.1452C>A (p.Tyr484Ter) n.561-5646G>T c.924C>A (p.Tyr308Ter) c.1176C>A (p.Tyr392Ter) | gnomAD v4 |
| 5 | g.132340572C>G | CA360812765 | MIR3936HG,SLC22A4 | c.1452C>G (p.Tyr484Ter) n.561-5646G>C c.924C>G (p.Tyr308Ter) c.1176C>G (p.Tyr392Ter) | |
| 5 | g.132340572C>T | CA446339885 | MIR3936HG,SLC22A4 | c.1452C>T (p.Tyr484=) n.561-5646G>A c.924C>T (p.Tyr308=) c.1176C>T (p.Tyr392=) | |
| 5 | g.132340572_132340573insCCTT | CA2675193386 | MIR3936HG,SLC22A4 | c.1452_1453insCCTT (p.Asn485ProfsTer2) n.561-5647_561-5646insAAGG c.924_925insCCTT (p.Asn309ProfsTer2) c.1176_1177insCCTT (p.Asn393ProfsTer2) | gnomAD v4 |
| 5 | g.132340573A>C | CA360812771 | MIR3936HG,SLC22A4 | c.1453A>C (p.Asn485His) n.561-5647T>G c.925A>C (p.Asn309His) c.1177A>C (p.Asn393His) | |
| 5 | g.132340573A>G | CA360812767 | MIR3936HG,SLC22A4 | c.1453A>G (p.Asn485Asp) n.561-5647T>C c.925A>G (p.Asn309Asp) c.1177A>G (p.Asn393Asp) | |
| 5 | g.132340573A>T | CA360812766 | MIR3936HG,SLC22A4 | c.1453A>T (p.Asn485Tyr) n.561-5647T>A c.925A>T (p.Asn309Tyr) c.1177A>T (p.Asn393Tyr) | |
| 5 | g.132340573_132340574insC | CA2675193387 | MIR3936HG,SLC22A4 | c.1453_1454insC (p.Asn485ThrfsTer11) n.561-5648_561-5647insG c.925_926insC (p.Asn309ThrfsTer11) c.1177_1178insC (p.Asn393ThrfsTer11) | gnomAD v4 |
| 5 | g.132340574A>C | CA360812776 | MIR3936HG,SLC22A4 | c.1454A>C (p.Asn485Thr) n.561-5648T>G c.926A>C (p.Asn309Thr) c.1178A>C (p.Asn393Thr) | |
| 5 | g.132340574A>G | CA360812784 | MIR3936HG,SLC22A4 | c.1454A>G (p.Asn485Ser) n.561-5648T>C c.926A>G (p.Asn309Ser) c.1178A>G (p.Asn393Ser) | |
| 5 | g.132340574A>T | CA360812787 | MIR3936HG,SLC22A4 | c.1454A>T (p.Asn485Ile) n.561-5648T>A c.926A>T (p.Asn309Ile) c.1178A>T (p.Asn393Ile) | |
| 5 | g.132340574_132340575insTT | CA2675193388 | MIR3936HG,SLC22A4 | c.1454_1455insTT (p.Arg486SerfsTer12) n.561-5649_561-5648insAA c.926_927insTT (p.Arg310SerfsTer12) c.1178_1179insTT (p.Arg394SerfsTer12) | gnomAD v4 |
| 5 | g.132340575C>A | CA3403698 | MIR3936HG,SLC22A4 | c.1455C>A (p.Asn485Lys) n.561-5649G>T c.927C>A (p.Asn309Lys) c.1179C>A (p.Asn393Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.132340575C= | CA1583125005 | MIR3936HG,SLC22A4 | c.1455C= (p.Asn485=) n.561-5649G= c.927C= (p.Asn309=) c.1179C= (p.Asn393=) | |
| 5 | g.132340575C>G | CA360812795 | MIR3936HG,SLC22A4 | c.1455C>G (p.Asn485Lys) n.561-5649G>C c.927C>G (p.Asn309Lys) c.1179C>G (p.Asn393Lys) | gnomAD v4 |
| 5 | g.132340575C>T | CA446339907 | MIR3936HG,SLC22A4 | c.1455C>T (p.Asn485=) n.561-5649G>A c.927C>T (p.Asn309=) c.1179C>T (p.Asn393=) | gnomAD v4 |
| 5 | g.132340576A>C | CA446339916 | MIR3936HG,SLC22A4 | c.1456A>C (p.Arg486=) n.561-5650T>G c.928A>C (p.Arg310=) c.1180A>C (p.Arg394=) | |
| 5 | g.132340576A>G | CA360812798 | MIR3936HG,SLC22A4 | c.1456A>G (p.Arg486Gly) n.561-5650T>C c.928A>G (p.Arg310Gly) c.1180A>G (p.Arg394Gly) | |
| 5 | g.132340576A>T | CA360812803 | MIR3936HG,SLC22A4 | c.1456A>T (p.Arg486Ter) n.561-5650T>A c.928A>T (p.Arg310Ter) c.1180A>T (p.Arg394Ter) |