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.99608763C= | CA1480082392 | MTTP | c.1558-3C= (n.1558-3C=) c.1309-3C= (n.1309-3C=) c.1639-3C= (n.1639-3C=) c.*5-3C= (n.*5-3C=) | |
| 4 | g.99608763C>G | CA2671534640 | MTTP | c.1558-3C>G (n.1558-3C>G) c.1309-3C>G (n.1309-3C>G) c.1639-3C>G (n.1639-3C>G) c.*5-3C>G (n.*5-3C>G) | gnomAD v4 |
| 4 | g.99608763C>T | CA102640811 | MTTP | c.1558-3C>T (n.1558-3C>T) c.1309-3C>T (n.1309-3C>T) c.1639-3C>T (n.1639-3C>T) c.*5-3C>T (n.*5-3C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99608764A= | CA1480082393 | MTTP | c.1558-2A= (n.1558-2A=) c.1309-2A= (n.1309-2A=) c.1639-2A= (n.1639-2A=) c.*5-2A= (n.*5-2A=) | |
| 4 | g.99608764A>C | CA357511970 | MTTP | c.1558-2A>C (n.1558-2A>C) c.1309-2A>C (n.1309-2A>C) c.1639-2A>C (n.1639-2A>C) c.*5-2A>C (n.*5-2A>C) | |
| 4 | g.99608764A>G | CA357511969 | MTTP | c.1558-2A>G (n.1558-2A>G) c.1309-2A>G (n.1309-2A>G) c.1639-2A>G (n.1639-2A>G) c.*5-2A>G (n.*5-2A>G) | ClinVar dbSNP |
| 4 | g.99608764A>T | CA357511968 | MTTP | c.1558-2A>T (n.1558-2A>T) c.1309-2A>T (n.1309-2A>T) c.1639-2A>T (n.1639-2A>T) c.*5-2A>T (n.*5-2A>T) | |
| 4 | g.99608765G>A | CA357511971 | MTTP | c.1558-1G>A (n.1558-1G>A) c.1309-1G>A (n.1309-1G>A) c.1639-1G>A (n.1639-1G>A) c.*5-1G>A (n.*5-1G>A) | gnomAD v4 |
| 4 | g.99608765G>C | CA357511972 | MTTP | c.1558-1G>C (n.1558-1G>C) c.1309-1G>C (n.1309-1G>C) c.1639-1G>C (n.1639-1G>C) c.*5-1G>C (n.*5-1G>C) | |
| 4 | g.99608765G>T | CA357511973 | MTTP | c.1558-1G>T (n.1558-1G>T) c.1309-1G>T (n.1309-1G>T) c.1639-1G>T (n.1639-1G>T) c.*5-1G>T (n.*5-1G>T) | |
| 4 | g.99608766G>A | CA357511974 | MTTP | c.1558G>A (p.Val520Met) c.1309G>A (p.Val437Met) c.1639G>A (p.Val547Met) c.*5G>A (n.*5G>A) | |
| 4 | g.99608766G>C | CA357511975 | MTTP | c.1558G>C (p.Val520Leu) c.1309G>C (p.Val437Leu) c.1639G>C (p.Val547Leu) c.*5G>C (n.*5G>C) | |
| 4 | g.99608766G>T | CA357511976 | MTTP | c.1558G>T (p.Val520Leu) c.1309G>T (p.Val437Leu) c.1639G>T (p.Val547Leu) c.*5G>T (n.*5G>T) | |
| 4 | g.99608767T>A | CA357511977 | MTTP | c.1559T>A (p.Val520Glu) c.1310T>A (p.Val437Glu) c.1640T>A (p.Val547Glu) c.*6T>A (n.*6T>A) | |
| 4 | g.99608767T>C | CA357511978 | MTTP | c.1559T>C (p.Val520Ala) c.1310T>C (p.Val437Ala) c.1640T>C (p.Val547Ala) c.*6T>C (n.*6T>C) | |
| 4 | g.99608767T>G | CA357511979 | MTTP | c.1559T>G (p.Val520Gly) c.1310T>G (p.Val437Gly) c.1640T>G (p.Val547Gly) c.*6T>G (n.*6T>G) | |
| 4 | g.99608767_99608770delinsTGAA | CA1480082394 | MTTP | c.1559_1562delinsTGAA (p.Val520=) c.1310_1313delinsTGAA (p.Val437=) c.1640_1643delinsTGAA (p.Val547=) c.*6_*9delinsTGAA (n.*6_*9delinsTGAA) | |
| 4 | g.99608768G>A | CA440330531 | MTTP | c.1560G>A (p.Val520=) c.1311G>A (p.Val437=) c.1641G>A (p.Val547=) c.*7G>A (n.*7G>A) | |
| 4 | g.99608768G>C | CA440330530 | MTTP | c.1560G>C (p.Val520=) c.1311G>C (p.Val437=) c.1641G>C (p.Val547=) c.*7G>C (n.*7G>C) | |
| 4 | g.99608768G>T | CA440330529 | MTTP | c.1560G>T (p.Val520=) c.1311G>T (p.Val437=) c.1641G>T (p.Val547=) c.*7G>T (n.*7G>T) | |
| 4 | g.99608773_99608775del | CA553568421 | MTTP | c.1565_1567del (p.Lys522del) c.1316_1318del (p.Lys439del) c.1646_1648del (p.Lys549del) c.*12_*14del (n.*12_*14del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99608769A>C | CA357511982 | MTTP | c.1561A>C (p.Lys521Gln) c.1312A>C (p.Lys438Gln) c.1642A>C (p.Lys548Gln) c.*8A>C (n.*8A>C) | |
| 4 | g.99608769A>G | CA357511985 | MTTP | c.1561A>G (p.Lys521Glu) c.1312A>G (p.Lys438Glu) c.1642A>G (p.Lys548Glu) c.*8A>G (n.*8A>G) | |
| 4 | g.99608769A>T | CA357511986 | MTTP | c.1561A>T (p.Lys521Ter) c.1312A>T (p.Lys438Ter) c.1642A>T (p.Lys548Ter) c.*8A>T (n.*8A>T) | |
| 4 | g.99608770A= | CA1480082395 | MTTP | c.1562A= (p.Lys521=) c.1313A= (p.Lys438=) c.1643A= (p.Lys548=) c.*9A= (n.*9A=) | |
| 4 | g.99608770A>C | CA357511991 | MTTP | c.1562A>C (p.Lys521Thr) c.1313A>C (p.Lys438Thr) c.1643A>C (p.Lys548Thr) c.*9A>C (n.*9A>C) | |
| 4 | g.99608770A>G | CA357511989 | MTTP | c.1562A>G (p.Lys521Arg) c.1313A>G (p.Lys438Arg) c.1643A>G (p.Lys548Arg) c.*9A>G (n.*9A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99608770A>T | CA357511988 | MTTP | c.1562A>T (p.Lys521Met) c.1313A>T (p.Lys438Met) c.1643A>T (p.Lys548Met) c.*9A>T (n.*9A>T) | |
| 4 | g.99608771G>A | CA440330532 | MTTP | c.1563G>A (p.Lys521=) c.1314G>A (p.Lys438=) c.1644G>A (p.Lys548=) c.*10G>A (n.*10G>A) | |
| 4 | g.99608771G>C | CA357511992 | MTTP | c.1563G>C (p.Lys521Asn) c.1314G>C (p.Lys438Asn) c.1644G>C (p.Lys548Asn) c.*10G>C (n.*10G>C) | |
| 4 | g.99608771G>T | CA357511994 | MTTP | c.1563G>T (p.Lys521Asn) c.1314G>T (p.Lys438Asn) c.1644G>T (p.Lys548Asn) c.*10G>T (n.*10G>T) | |
| 4 | g.99608772A= | CA1480082396 | MTTP | c.1564A= (p.Lys522=) c.1315A= (p.Lys439=) c.1645A= (p.Lys549=) c.*11A= (n.*11A=) | |
| 4 | g.99608772A>C | CA357511996 | MTTP | c.1564A>C (p.Lys522Gln) c.1315A>C (p.Lys439Gln) c.1645A>C (p.Lys549Gln) c.*11A>C (n.*11A>C) | |
| 4 | g.99608772A>G | CA3022138 | MTTP | c.1564A>G (p.Lys522Glu) c.1315A>G (p.Lys439Glu) c.1645A>G (p.Lys549Glu) c.*11A>G (n.*11A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99608772A>T | CA357511997 | MTTP | c.1564A>T (p.Lys522Ter) c.1315A>T (p.Lys439Ter) c.1645A>T (p.Lys549Ter) c.*11A>T (n.*11A>T) | |
| 4 | g.99608773A>C | CA357511998 | MTTP | c.1565A>C (p.Lys522Thr) c.1316A>C (p.Lys439Thr) c.1646A>C (p.Lys549Thr) c.*12A>C (n.*12A>C) | |
| 4 | g.99608773A>G | CA357511999 | MTTP | c.1565A>G (p.Lys522Arg) c.1316A>G (p.Lys439Arg) c.1646A>G (p.Lys549Arg) c.*12A>G (n.*12A>G) | |
| 4 | g.99608773A>T | CA357512001 | MTTP | c.1565A>T (p.Lys522Met) c.1316A>T (p.Lys439Met) c.1646A>T (p.Lys549Met) c.*12A>T (n.*12A>T) | |
| 4 | g.99608774G>A | CA440330533 | MTTP | c.1566G>A (p.Lys522=) c.1317G>A (p.Lys439=) c.1647G>A (p.Lys549=) c.*13G>A (n.*13G>A) | |
| 4 | g.99608774G>C | CA357512003 | MTTP | c.1566G>C (p.Lys522Asn) c.1317G>C (p.Lys439Asn) c.1647G>C (p.Lys549Asn) c.*13G>C (n.*13G>C) | |
| 4 | g.99608774G>T | CA357512005 | MTTP | c.1566G>T (p.Lys522Asn) c.1317G>T (p.Lys439Asn) c.1647G>T (p.Lys549Asn) c.*13G>T (n.*13G>T) | |
| 4 | g.99608775A>C | CA357512009 | MTTP | c.1567A>C (p.Thr523Pro) c.1318A>C (p.Thr440Pro) c.1648A>C (p.Thr550Pro) c.*14A>C (n.*14A>C) | |
| 4 | g.99608775A>G | CA357512011 | MTTP | c.1567A>G (p.Thr523Ala) c.1318A>G (p.Thr440Ala) c.1648A>G (p.Thr550Ala) c.*14A>G (n.*14A>G) | |
| 4 | g.99608775A>T | CA357512014 | MTTP | c.1567A>T (p.Thr523Ser) c.1318A>T (p.Thr440Ser) c.1648A>T (p.Thr550Ser) c.*14A>T (n.*14A>T) | |
| 4 | g.99608776C>A | CA357512024 | MTTP | c.1568C>A (p.Thr523Asn) c.1319C>A (p.Thr440Asn) c.1649C>A (p.Thr550Asn) c.*15C>A (n.*15C>A) | |
| 4 | g.99608776C>G | CA357512017 | MTTP | c.1568C>G (p.Thr523Ser) c.1319C>G (p.Thr440Ser) c.1649C>G (p.Thr550Ser) c.*15C>G (n.*15C>G) | |
| 4 | g.99608776C>T | CA357512021 | MTTP | c.1568C>T (p.Thr523Ile) c.1319C>T (p.Thr440Ile) c.1649C>T (p.Thr550Ile) c.*15C>T (n.*15C>T) | |
| 4 | g.99608777C>A | CA440330534 | MTTP | c.1569C>A (p.Thr523=) c.1320C>A (p.Thr440=) c.1650C>A (p.Thr550=) c.*16C>A (n.*16C>A) | |
| 4 | g.99608777C>G | CA440330535 | MTTP | c.1569C>G (p.Thr523=) c.1320C>G (p.Thr440=) c.1650C>G (p.Thr550=) c.*16C>G (n.*16C>G) | |
| 4 | g.99608777C>T | CA440330536 | MTTP | c.1569C>T (p.Thr523=) c.1320C>T (p.Thr440=) c.1650C>T (p.Thr550=) c.*16C>T (n.*16C>T) | ClinVar |
| 4 | g.99608778T>A | CA357512028 | MTTP | c.1570T>A (p.Leu524Ile) c.1321T>A (p.Leu441Ile) c.1651T>A (p.Leu551Ile) c.*17T>A (n.*17T>A) | |
| 4 | g.99608778T>C | CA440330537 | MTTP | c.1570T>C (p.Leu524=) c.1321T>C (p.Leu441=) c.1651T>C (p.Leu551=) c.*17T>C (n.*17T>C) | ClinVar |
| 4 | g.99608778T>G | CA357512029 | MTTP | c.1570T>G (p.Leu524Val) c.1321T>G (p.Leu441Val) c.1651T>G (p.Leu551Val) c.*17T>G (n.*17T>G) | |
| 4 | g.99608779T>A | CA357512030 | MTTP | c.1571T>A (p.Leu524Ter) c.1322T>A (p.Leu441Ter) c.1652T>A (p.Leu551Ter) c.*18T>A (n.*18T>A) | |
| 4 | g.99608779T>C | CA357512031 | MTTP | c.1571T>C (p.Leu524Ser) c.1322T>C (p.Leu441Ser) c.1652T>C (p.Leu551Ser) c.*18T>C (n.*18T>C) | |
| 4 | g.99608779T>G | CA357512032 | MTTP | c.1571T>G (p.Leu524Ter) c.1322T>G (p.Leu441Ter) c.1652T>G (p.Leu551Ter) c.*18T>G (n.*18T>G) | |
| 4 | g.99608780A= | CA1480082397 | MTTP | c.1572A= (p.Leu524=) c.1323A= (p.Leu441=) c.1653A= (p.Leu551=) c.*19A= (n.*19A=) | |
| 4 | g.99608780A>C | CA357512033 | MTTP | c.1572A>C (p.Leu524Phe) c.1323A>C (p.Leu441Phe) c.1653A>C (p.Leu551Phe) c.*19A>C (n.*19A>C) | dbSNP gnomAD v4 |
| 4 | g.99608780A>G | CA440330538 | MTTP | c.1572A>G (p.Leu524=) c.1323A>G (p.Leu441=) c.1653A>G (p.Leu551=) c.*19A>G (n.*19A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99608780A>T | CA357512036 | MTTP | c.1572A>T (p.Leu524Phe) c.1323A>T (p.Leu441Phe) c.1653A>T (p.Leu551Phe) c.*19A>T (n.*19A>T) | |
| 4 | g.99608781_99608782del | CA2580071896 | MTTP | c.1573_1574del (p.Asn525GlnfsTer8) c.1324_1325del (p.Asn442GlnfsTer8) c.1654_1655del (p.Asn552GlnfsTer8) c.*20_*21del (n.*20_*21del) | ClinVar |
| 4 | g.99608781A>C | CA357512039 | MTTP | c.1573A>C (p.Asn525His) c.1324A>C (p.Asn442His) c.1654A>C (p.Asn552His) c.*20A>C (n.*20A>C) | |
| 4 | g.99608781A>G | CA357512042 | MTTP | c.1573A>G (p.Asn525Asp) c.1324A>G (p.Asn442Asp) c.1654A>G (p.Asn552Asp) c.*20A>G (n.*20A>G) | |
| 4 | g.99608781A>T | CA357512044 | MTTP | c.1573A>T (p.Asn525Tyr) c.1324A>T (p.Asn442Tyr) c.1654A>T (p.Asn552Tyr) c.*20A>T (n.*20A>T) | |
| 4 | g.99608782A>C | CA357512055 | MTTP | c.1574A>C (p.Asn525Thr) c.1325A>C (p.Asn442Thr) c.1655A>C (p.Asn552Thr) c.*21A>C (n.*21A>C) | |
| 4 | g.99608782A>G | CA357512058 | MTTP | c.1574A>G (p.Asn525Ser) c.1325A>G (p.Asn442Ser) c.1655A>G (p.Asn552Ser) c.*21A>G (n.*21A>G) | |
| 4 | g.99608782A>T | CA357512062 | MTTP | c.1574A>T (p.Asn525Ile) c.1325A>T (p.Asn442Ile) c.1655A>T (p.Asn552Ile) c.*21A>T (n.*21A>T) | |
| 4 | g.99608783C>A | CA102640812 | MTTP | c.1575C>A (p.Asn525Lys) c.1326C>A (p.Asn442Lys) c.1656C>A (p.Asn552Lys) c.*22C>A (n.*22C>A) | ClinVar dbSNP gnomAD v4 |
| 4 | g.99608783C= | CA1480082398 | MTTP | c.1575C= (p.Asn525=) c.1326C= (p.Asn442=) c.1656C= (p.Asn552=) c.*22C= (n.*22C=) | |
| 4 | g.99608783C>G | CA357512071 | MTTP | c.1575C>G (p.Asn525Lys) c.1326C>G (p.Asn442Lys) c.1656C>G (p.Asn552Lys) c.*22C>G (n.*22C>G) | |
| 4 | g.99608783C>T | CA440330539 | MTTP | c.1575C>T (p.Asn525=) c.1326C>T (p.Asn442=) c.1656C>T (p.Asn552=) c.*22C>T (n.*22C>T) | dbSNP |
| 4 | g.99608784A>C | CA440330540 | MTTP | c.1576A>C (p.Arg526=) c.1327A>C (p.Arg443=) c.1657A>C (p.Arg553=) c.*23A>C (n.*23A>C) | |
| 4 | g.99608784A>G | CA357512074 | MTTP | c.1576A>G (p.Arg526Gly) c.1327A>G (p.Arg443Gly) c.1657A>G (p.Arg553Gly) c.*23A>G (n.*23A>G) | |
| 4 | g.99608784A>T | CA357512075 | MTTP | c.1576A>T (p.Arg526Ter) c.1327A>T (p.Arg443Ter) c.1657A>T (p.Arg553Ter) c.*23A>T (n.*23A>T) | |
| 4 | g.99608785G>A | CA357512076 | MTTP | c.1577G>A (p.Arg526Lys) c.1328G>A (p.Arg443Lys) c.1658G>A (p.Arg553Lys) c.*24G>A (n.*24G>A) | |
| 4 | g.99608785G>C | CA357512077 | MTTP | c.1577G>C (p.Arg526Thr) c.1328G>C (p.Arg443Thr) c.1658G>C (p.Arg553Thr) c.*24G>C (n.*24G>C) | gnomAD v4 |
| 4 | g.99608785G>T | CA357512080 | MTTP | c.1577G>T (p.Arg526Ile) c.1328G>T (p.Arg443Ile) c.1658G>T (p.Arg553Ile) c.*24G>T (n.*24G>T) | |
| 4 | g.99608786A>C | CA357512083 | MTTP | c.1578A>C (p.Arg526Ser) c.1329A>C (p.Arg443Ser) c.1659A>C (p.Arg553Ser) c.*25A>C (n.*25A>C) | |
| 4 | g.99608786A>G | CA440330541 | MTTP | c.1578A>G (p.Arg526=) c.1329A>G (p.Arg443=) c.1659A>G (p.Arg553=) c.*25A>G (n.*25A>G) | |
| 4 | g.99608786A>T | CA357512086 | MTTP | c.1578A>T (p.Arg526Ser) c.1329A>T (p.Arg443Ser) c.1659A>T (p.Arg553Ser) c.*25A>T (n.*25A>T) | |
| 4 | g.99608787A>C | CA357512091 | MTTP | c.1579A>C (p.Ile527Leu) c.1330A>C (p.Ile444Leu) c.1660A>C (p.Ile554Leu) c.*26A>C (n.*26A>C) | |
| 4 | g.99608787A>G | CA357512095 | MTTP | c.1579A>G (p.Ile527Val) c.1330A>G (p.Ile444Val) c.1660A>G (p.Ile554Val) c.*26A>G (n.*26A>G) | |
| 4 | g.99608787A>T | CA357512097 | MTTP | c.1579A>T (p.Ile527Leu) c.1330A>T (p.Ile444Leu) c.1660A>T (p.Ile554Leu) c.*26A>T (n.*26A>T) | |
| 4 | g.99608788T>A | CA357512100 | MTTP | c.1580T>A (p.Ile527Lys) c.1331T>A (p.Ile444Lys) c.1661T>A (p.Ile554Lys) c.*27T>A (n.*27T>A) | dbSNP |
| 4 | g.99608788T>C | CA357512104 | MTTP | c.1580T>C (p.Ile527Thr) c.1331T>C (p.Ile444Thr) c.1661T>C (p.Ile554Thr) c.*27T>C (n.*27T>C) | |
| 4 | g.99608788T>G | CA357512107 | MTTP | c.1580T>G (p.Ile527Arg) c.1331T>G (p.Ile444Arg) c.1661T>G (p.Ile554Arg) c.*27T>G (n.*27T>G) | |
| 4 | g.99608788T= | CA1480082399 | MTTP | c.1580T= (p.Ile527=) c.1331T= (p.Ile444=) c.1661T= (p.Ile554=) c.*27T= (n.*27T=) | |
| 4 | g.99608789A>C | CA440330543 | MTTP | c.1581A>C (p.Ile527=) c.1332A>C (p.Ile444=) c.1662A>C (p.Ile554=) c.*28A>C (n.*28A>C) | |
| 4 | g.99608789A>G | CA357512113 | MTTP | c.1581A>G (p.Ile527Met) c.1332A>G (p.Ile444Met) c.1662A>G (p.Ile554Met) c.*28A>G (n.*28A>G) | |
| 4 | g.99608789A>T | CA440330542 | MTTP | c.1581A>T (p.Ile527=) c.1332A>T (p.Ile444=) c.1662A>T (p.Ile554=) c.*28A>T (n.*28A>T) | |
| 4 | g.99608790T>A | CA357512121 | MTTP | c.1582T>A (p.Tyr528Asn) c.1333T>A (p.Tyr445Asn) c.1663T>A (p.Tyr555Asn) c.*29T>A (n.*29T>A) | |
| 4 | g.99608790T>C | CA357512124 | MTTP | c.1582T>C (p.Tyr528His) c.1333T>C (p.Tyr445His) c.1663T>C (p.Tyr555His) c.*29T>C (n.*29T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99608790T>G | CA357512118 | MTTP | c.1582T>G (p.Tyr528Asp) c.1333T>G (p.Tyr445Asp) c.1663T>G (p.Tyr555Asp) c.*29T>G (n.*29T>G) | |
| 4 | g.99608790T= | CA1480082400 | MTTP | c.1582T= (p.Tyr528=) c.1333T= (p.Tyr445=) c.1663T= (p.Tyr555=) c.*29T= (n.*29T=) | |
| 4 | g.99608790dup | CA2671534641 | MTTP | c.1582dup (p.Tyr528LeufsTer6) c.1333dup (p.Tyr445LeufsTer6) c.1663dup (p.Tyr555LeufsTer6) c.*29dup (n.*29dup) | gnomAD v4 |
| 4 | g.99608791A>C | CA357512126 | MTTP | c.1583A>C (p.Tyr528Ser) c.1334A>C (p.Tyr445Ser) c.1664A>C (p.Tyr555Ser) c.*30A>C (n.*30A>C) | |
| 4 | g.99608791A>G | CA357512130 | MTTP | c.1583A>G (p.Tyr528Cys) c.1334A>G (p.Tyr445Cys) c.1664A>G (p.Tyr555Cys) c.*30A>G (n.*30A>G) | |
| 4 | g.99608791A>T | CA357512132 | MTTP | c.1583A>T (p.Tyr528Phe) c.1334A>T (p.Tyr445Phe) c.1664A>T (p.Tyr555Phe) c.*30A>T (n.*30A>T) | |
| 4 | g.99608792C>A | CA357512135 | MTTP | c.1584C>A (p.Tyr528Ter) c.1335C>A (p.Tyr445Ter) c.1665C>A (p.Tyr555Ter) c.*31C>A (n.*31C>A) | |
| 4 | g.99608792C>G | CA357512147 | MTTP | c.1584C>G (p.Tyr528Ter) c.1335C>G (p.Tyr445Ter) c.1665C>G (p.Tyr555Ter) c.*31C>G (n.*31C>G) | |
| 4 | g.99608792C>T | CA440330544 | MTTP | c.1584C>T (p.Tyr528=) c.1335C>T (p.Tyr445=) c.1665C>T (p.Tyr555=) c.*31C>T (n.*31C>T) | ClinVar |
| 4 | g.99608793C>A | CA357512156 | MTTP | c.1585C>A (p.His529Asn) c.1336C>A (p.His446Asn) c.1666C>A (p.His556Asn) c.*32C>A (n.*32C>A) | |
| 4 | g.99608793C>G | CA357512151 | MTTP | c.1585C>G (p.His529Asp) c.1336C>G (p.His446Asp) c.1666C>G (p.His556Asp) c.*32C>G (n.*32C>G) | |
| 4 | g.99608793C>T | CA357512152 | MTTP | c.1585C>T (p.His529Tyr) c.1336C>T (p.His446Tyr) c.1666C>T (p.His556Tyr) c.*32C>T (n.*32C>T) | |
| 4 | g.99608794A>C | CA357512159 | MTTP | c.1586A>C (p.His529Pro) c.1337A>C (p.His446Pro) c.1667A>C (p.His556Pro) c.*33A>C (n.*33A>C) | |
| 4 | g.99608794A>G | CA357512161 | MTTP | c.1586A>G (p.His529Arg) c.1337A>G (p.His446Arg) c.1667A>G (p.His556Arg) c.*33A>G (n.*33A>G) | |
| 4 | g.99608794A>T | CA357512162 | MTTP | c.1586A>T (p.His529Leu) c.1337A>T (p.His446Leu) c.1667A>T (p.His556Leu) c.*33A>T (n.*33A>T) | gnomAD v4 |
| 4 | g.99608795C>A | CA357512164 | MTTP | c.1587C>A (p.His529Gln) c.1338C>A (p.His446Gln) c.1668C>A (p.His556Gln) c.*34C>A (n.*34C>A) | |
| 4 | g.99608795C= | CA1480082401 | MTTP | c.1587C= (p.His529=) c.1338C= (p.His446=) c.1668C= (p.His556=) c.*34C= (n.*34C=) | |
| 4 | g.99608795C>G | CA357512166 | MTTP | c.1587C>G (p.His529Gln) c.1338C>G (p.His446Gln) c.1668C>G (p.His556Gln) c.*34C>G (n.*34C>G) | |
| 4 | g.99608795C>T | CA440330545 | MTTP | c.1587C>T (p.His529=) c.1338C>T (p.His446=) c.1668C>T (p.His556=) c.*34C>T (n.*34C>T) | ClinVar dbSNP gnomAD v4 |
| 4 | g.99608796C>A | CA357512176 | MTTP | c.1588C>A (p.Gln530Lys) c.1339C>A (p.Gln447Lys) c.1669C>A (p.Gln557Lys) c.*35C>A (n.*35C>A) | |
| 4 | g.99608796C= | CA1480082402 | MTTP | c.1588C= (p.Gln530=) c.1339C= (p.Gln447=) c.1669C= (p.Gln557=) c.*35C= (n.*35C=) | |
| 4 | g.99608796C>G | CA357512172 | MTTP | c.1588C>G (p.Gln530Glu) c.1339C>G (p.Gln447Glu) c.1669C>G (p.Gln557Glu) c.*35C>G (n.*35C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99608796C>T | CA357512170 | MTTP | c.1588C>T (p.Gln530Ter) c.1339C>T (p.Gln447Ter) c.1669C>T (p.Gln557Ter) c.*35C>T (n.*35C>T) | gnomAD v4 |
| 4 | g.99608797A>C | CA357512179 | MTTP | c.1589A>C (p.Gln530Pro) c.1340A>C (p.Gln447Pro) c.1670A>C (p.Gln557Pro) c.*36A>C (n.*36A>C) | |
| 4 | g.99608797A>G | CA357512180 | MTTP | c.1589A>G (p.Gln530Arg) c.1340A>G (p.Gln447Arg) c.1670A>G (p.Gln557Arg) c.*36A>G (n.*36A>G) | |
| 4 | g.99608797A>T | CA357512182 | MTTP | c.1589A>T (p.Gln530Leu) c.1340A>T (p.Gln447Leu) c.1670A>T (p.Gln557Leu) c.*36A>T (n.*36A>T) | |
| 4 | g.99608798A>C | CA357512187 | MTTP | c.1590A>C (p.Gln530His) c.1341A>C (p.Gln447His) c.1671A>C (p.Gln557His) c.*37A>C (n.*37A>C) | |
| 4 | g.99608798A>G | CA440330546 | MTTP | c.1590A>G (p.Gln530=) c.1341A>G (p.Gln447=) c.1671A>G (p.Gln557=) c.*37A>G (n.*37A>G) | |
| 4 | g.99608798A>T | CA357512188 | MTTP | c.1590A>T (p.Gln530His) c.1341A>T (p.Gln447His) c.1671A>T (p.Gln557His) c.*37A>T (n.*37A>T) | |
| 4 | g.99608799A>C | CA357512191 | MTTP | c.1591A>C (p.Asn531His) c.1342A>C (p.Asn448His) c.1672A>C (p.Asn558His) c.*38A>C (n.*38A>C) | |
| 4 | g.99608799A>G | CA357512192 | MTTP | c.1591A>G (p.Asn531Asp) c.1342A>G (p.Asn448Asp) c.1672A>G (p.Asn558Asp) c.*38A>G (n.*38A>G) | |
| 4 | g.99608799A>T | CA357512196 | MTTP | c.1591A>T (p.Asn531Tyr) c.1342A>T (p.Asn448Tyr) c.1672A>T (p.Asn558Tyr) c.*38A>T (n.*38A>T) | |
| 4 | g.99608800A>C | CA357512199 | MTTP | c.1592A>C (p.Asn531Thr) c.1343A>C (p.Asn448Thr) c.1673A>C (p.Asn558Thr) c.*39A>C (n.*39A>C) | |
| 4 | g.99608800A>G | CA357512201 | MTTP | c.1592A>G (p.Asn531Ser) c.1343A>G (p.Asn448Ser) c.1673A>G (p.Asn558Ser) c.*39A>G (n.*39A>G) | |
| 4 | g.99608800A>T | CA357512203 | MTTP | c.1592A>T (p.Asn531Ile) c.1343A>T (p.Asn448Ile) c.1673A>T (p.Asn558Ile) c.*39A>T (n.*39A>T) | |
| 4 | g.99608801C>A | CA357512213 | MTTP | c.1593C>A (p.Asn531Lys) c.1344C>A (p.Asn448Lys) c.1674C>A (p.Asn558Lys) c.*40C>A (n.*40C>A) | |
| 4 | g.99608801C= | CA1480082403 | MTTP | c.1593C= (p.Asn531=) c.1344C= (p.Asn448=) c.1674C= (p.Asn558=) c.*40C= (n.*40C=) | |
| 4 | g.99608801C>G | CA357512222 | MTTP | c.1593C>G (p.Asn531Lys) c.1344C>G (p.Asn448Lys) c.1674C>G (p.Asn558Lys) c.*40C>G (n.*40C>G) | |
| 4 | g.99608801C>T | CA440330548 | MTTP | c.1593C>T (p.Asn531=) c.1344C>T (p.Asn448=) c.1674C>T (p.Asn558=) c.*40C>T (n.*40C>T) | dbSNP |
| 4 | g.99608802C>A | CA357512234 | MTTP | c.1594C>A (p.Arg532Ser) c.1345C>A (p.Arg449Ser) c.1675C>A (p.Arg559Ser) c.*41C>A (n.*41C>A) | |
| 4 | g.99608802C= | CA1480082404 | MTTP | c.1594C= (p.Arg532=) c.1345C= (p.Arg449=) c.1675C= (p.Arg559=) c.*41C= (n.*41C=) | |
| 4 | g.99608802C>G | CA357512226 | MTTP | c.1594C>G (p.Arg532Gly) c.1345C>G (p.Arg449Gly) c.1675C>G (p.Arg559Gly) c.*41C>G (n.*41C>G) | gnomAD v4 |
| 4 | g.99608802C>T | CA3022139 | MTTP | c.1594C>T (p.Arg532Cys) c.1345C>T (p.Arg449Cys) c.1675C>T (p.Arg559Cys) c.*41C>T (n.*41C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.99608803G>A | CA3022140 | MTTP | c.1595G>A (p.Arg532His) c.1346G>A (p.Arg449His) c.1676G>A (p.Arg559His) c.*42G>A (n.*42G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99608803G>C | CA357512238 | MTTP | c.1595G>C (p.Arg532Pro) c.1346G>C (p.Arg449Pro) c.1676G>C (p.Arg559Pro) c.*42G>C (n.*42G>C) | |
| 4 | g.99608803G= | CA1480082405 | MTTP | c.1595G= (p.Arg532=) c.1346G= (p.Arg449=) c.1676G= (p.Arg559=) c.*42G= (n.*42G=) | |
| 4 | g.99608803G>T | CA357512242 | MTTP | c.1595G>T (p.Arg532Leu) c.1346G>T (p.Arg449Leu) c.1676G>T (p.Arg559Leu) c.*42G>T (n.*42G>T) | dbSNP |
| 4 | g.99608804T>A | CA440330549 | MTTP | c.1596T>A (p.Arg532=) c.1347T>A (p.Arg449=) c.1677T>A (p.Arg559=) c.*43T>A (n.*43T>A) | ClinVar dbSNP |
| 4 | g.99608804T>C | CA440330550 | MTTP | c.1596T>C (p.Arg532=) c.1347T>C (p.Arg449=) c.1677T>C (p.Arg559=) c.*43T>C (n.*43T>C) | |
| 4 | g.99608804T>G | CA440330551 | MTTP | c.1596T>G (p.Arg532=) c.1347T>G (p.Arg449=) c.1677T>G (p.Arg559=) c.*43T>G (n.*43T>G) | |
| 4 | g.99608805A>C | CA357512248 | MTTP | c.1597A>C (p.Lys533Gln) c.1348A>C (p.Lys450Gln) c.1678A>C (p.Lys560Gln) c.*44A>C (n.*44A>C) | |
| 4 | g.99608805A>G | CA357512250 | MTTP | c.1597A>G (p.Lys533Glu) c.1348A>G (p.Lys450Glu) c.1678A>G (p.Lys560Glu) c.*44A>G (n.*44A>G) | |
| 4 | g.99608805A>T | CA357512251 | MTTP | c.1597A>T (p.Lys533Ter) c.1348A>T (p.Lys450Ter) c.1678A>T (p.Lys560Ter) c.*44A>T (n.*44A>T) | |
| 4 | g.99608806A>C | CA357512255 | MTTP | c.1598A>C (p.Lys533Thr) c.1349A>C (p.Lys450Thr) c.1679A>C (p.Lys560Thr) c.*45A>C (n.*45A>C) | |
| 4 | g.99608806A>G | CA357512260 | MTTP | c.1598A>G (p.Lys533Arg) c.1349A>G (p.Lys450Arg) c.1679A>G (p.Lys560Arg) c.*45A>G (n.*45A>G) | |
| 4 | g.99608806A>T | CA357512263 | MTTP | c.1598A>T (p.Lys533Ile) c.1349A>T (p.Lys450Ile) c.1679A>T (p.Lys560Ile) c.*45A>T (n.*45A>T) | |
| 4 | g.99608807A= | CA1480082406 | MTTP | c.1599A= (p.Lys533=) c.1350A= (p.Lys450=) c.1680A= (p.Lys560=) c.*46A= (n.*46A=) | |
| 4 | g.99608807A>C | CA357512267 | MTTP | c.1599A>C (p.Lys533Asn) c.1350A>C (p.Lys450Asn) c.1680A>C (p.Lys560Asn) c.*46A>C (n.*46A>C) | |
| 4 | g.99608807A>G | CA3022141 | MTTP | c.1599A>G (p.Lys533=) c.1350A>G (p.Lys450=) c.1680A>G (p.Lys560=) c.*46A>G (n.*46A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99608807A>T | CA357512281 | MTTP | c.1599A>T (p.Lys533Asn) c.1350A>T (p.Lys450Asn) c.1680A>T (p.Lys560Asn) c.*46A>T (n.*46A>T) | |
| 4 | g.99608808G>A | CA357512284 | MTTP | c.1600G>A (p.Val534Ile) c.1351G>A (p.Val451Ile) c.1681G>A (p.Val561Ile) c.*47G>A (n.*47G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99608808G>C | CA357512290 | MTTP | c.1600G>C (p.Val534Leu) c.1351G>C (p.Val451Leu) c.1681G>C (p.Val561Leu) c.*47G>C (n.*47G>C) | |
| 4 | g.99608808G= | CA1480082407 | MTTP | c.1600G= (p.Val534=) c.1351G= (p.Val451=) c.1681G= (p.Val561=) c.*47G= (n.*47G=) | |
| 4 | g.99608808G>T | CA357512286 | MTTP | c.1600G>T (p.Val534Phe) c.1351G>T (p.Val451Phe) c.1681G>T (p.Val561Phe) c.*47G>T (n.*47G>T) | |
| 4 | g.99608809T>A | CA357512294 | MTTP | c.1601T>A (p.Val534Asp) c.1352T>A (p.Val451Asp) c.1682T>A (p.Val561Asp) c.*48T>A (n.*48T>A) | |
| 4 | g.99608809T>C | CA357512303 | MTTP | c.1601T>C (p.Val534Ala) c.1352T>C (p.Val451Ala) c.1682T>C (p.Val561Ala) c.*48T>C (n.*48T>C) | |
| 4 | g.99608809T>G | CA357512297 | MTTP | c.1601T>G (p.Val534Gly) c.1352T>G (p.Val451Gly) c.1682T>G (p.Val561Gly) c.*48T>G (n.*48T>G) | |
| 4 | g.99608810T>A | CA440330553 | MTTP | c.1602T>A (p.Val534=) c.1353T>A (p.Val451=) c.1683T>A (p.Val561=) c.*49T>A (n.*49T>A) | |
| 4 | g.99608810T>C | CA440330554 | MTTP | c.1602T>C (p.Val534=) c.1353T>C (p.Val451=) c.1683T>C (p.Val561=) c.*49T>C (n.*49T>C) | |
| 4 | g.99608810T>G | CA440330552 | MTTP | c.1602T>G (p.Val534=) c.1353T>G (p.Val451=) c.1683T>G (p.Val561=) c.*49T>G (n.*49T>G) | |
| 4 | g.99608811C>A | CA357512307 | MTTP | c.1603C>A (p.His535Asn) c.1354C>A (p.His452Asn) c.1684C>A (p.His562Asn) c.*50C>A (n.*50C>A) | |
| 4 | g.99608811C>G | CA357512310 | MTTP | c.1603C>G (p.His535Asp) c.1354C>G (p.His452Asp) c.1684C>G (p.His562Asp) c.*50C>G (n.*50C>G) | |
| 4 | g.99608811C>T | CA357512313 | MTTP | c.1603C>T (p.His535Tyr) c.1354C>T (p.His452Tyr) c.1684C>T (p.His562Tyr) c.*50C>T (n.*50C>T) | |
| 4 | g.99608812A= | CA1480082408 | MTTP | c.1604A= (p.His535=) c.1355A= (p.His452=) c.1685A= (p.His562=) c.*51A= (n.*51A=) | |
| 4 | g.99608812A>C | CA357512316 | MTTP | c.1604A>C (p.His535Pro) c.1355A>C (p.His452Pro) c.1685A>C (p.His562Pro) c.*51A>C (n.*51A>C) | |
| 4 | g.99608812A>G | CA357512318 | MTTP | c.1604A>G (p.His535Arg) c.1355A>G (p.His452Arg) c.1685A>G (p.His562Arg) c.*51A>G (n.*51A>G) | dbSNP |
| 4 | g.99608812A>T | CA357512323 | MTTP | c.1604A>T (p.His535Leu) c.1355A>T (p.His452Leu) c.1685A>T (p.His562Leu) c.*51A>T (n.*51A>T) | |
| 4 | g.99608813T>A | CA357512334 | MTTP | c.1605T>A (p.His535Gln) c.1356T>A (p.His452Gln) c.1686T>A (p.His562Gln) c.*52T>A (n.*52T>A) | |
| 4 | g.99608813T>C | CA3022142 | MTTP | c.1605T>C (p.His535=) c.1356T>C (p.His452=) c.1686T>C (p.His562=) c.*52T>C (n.*52T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99608813T>G | CA357512342 | MTTP | c.1605T>G (p.His535Gln) c.1356T>G (p.His452Gln) c.1686T>G (p.His562Gln) c.*52T>G (n.*52T>G) | |
| 4 | g.99608813T= | CA1480082409 | MTTP | c.1605T= (p.His535=) c.1356T= (p.His452=) c.1686T= (p.His562=) c.*52T= (n.*52T=) | |
| 4 | g.99608814G>A | CA357512345 | MTTP | c.1606G>A (p.Glu536Lys) c.1357G>A (p.Glu453Lys) c.1687G>A (p.Glu563Lys) c.*53G>A (n.*53G>A) | |
| 4 | g.99608814G>C | CA357512348 | MTTP | c.1606G>C (p.Glu536Gln) c.1357G>C (p.Glu453Gln) c.1687G>C (p.Glu563Gln) c.*53G>C (n.*53G>C) | |
| 4 | g.99608814G>T | CA357512350 | MTTP | c.1606G>T (p.Glu536Ter) c.1357G>T (p.Glu453Ter) c.1687G>T (p.Glu563Ter) c.*53G>T (n.*53G>T) | |
| 4 | g.99608815A>C | CA357512370 | MTTP | c.1607A>C (p.Glu536Ala) c.1358A>C (p.Glu453Ala) c.1688A>C (p.Glu563Ala) c.*54A>C (n.*54A>C) | |
| 4 | g.99608815A>G | CA357512365 | MTTP | c.1607A>G (p.Glu536Gly) c.1358A>G (p.Glu453Gly) c.1688A>G (p.Glu563Gly) c.*54A>G (n.*54A>G) | |
| 4 | g.99608815A>T | CA357512354 | MTTP | c.1607A>T (p.Glu536Val) c.1358A>T (p.Glu453Val) c.1688A>T (p.Glu563Val) c.*54A>T (n.*54A>T) | |
| 4 | g.99608818del | CA2578152419 | MTTP | c.1610del (p.Lys537ArgfsTer12) c.1361del (p.Lys454ArgfsTer12) c.1691del (p.Lys564ArgfsTer12) c.*57del (n.*57del) | |
| 4 | g.99608816A>C | CA357512373 | MTTP | c.1608A>C (p.Glu536Asp) c.1359A>C (p.Glu453Asp) c.1689A>C (p.Glu563Asp) c.*55A>C (n.*55A>C) | |
| 4 | g.99608816A>G | CA440330555 | MTTP | c.1608A>G (p.Glu536=) c.1359A>G (p.Glu453=) c.1689A>G (p.Glu563=) c.*55A>G (n.*55A>G) | |
| 4 | g.99608816A>T | CA357512377 | MTTP | c.1608A>T (p.Glu536Asp) c.1359A>T (p.Glu453Asp) c.1689A>T (p.Glu563Asp) c.*55A>T (n.*55A>T) | |
| 4 | g.99608817A>C | CA357512380 | MTTP | c.1609A>C (p.Lys537Gln) c.1360A>C (p.Lys454Gln) c.1690A>C (p.Lys564Gln) c.*56A>C (n.*56A>C) | |
| 4 | g.99608817A>G | CA357512383 | MTTP | c.1609A>G (p.Lys537Glu) c.1360A>G (p.Lys454Glu) c.1690A>G (p.Lys564Glu) c.*56A>G (n.*56A>G) | |
| 4 | g.99608817A>T | CA357512386 | MTTP | c.1609A>T (p.Lys537Ter) c.1360A>T (p.Lys454Ter) c.1690A>T (p.Lys564Ter) c.*56A>T (n.*56A>T) | |
| 4 | g.99608818A>C | CA357512390 | MTTP | c.1610A>C (p.Lys537Thr) c.1361A>C (p.Lys454Thr) c.1691A>C (p.Lys564Thr) c.*57A>C (n.*57A>C) | |
| 4 | g.99608818A>G | CA357512394 | MTTP | c.1610A>G (p.Lys537Arg) c.1361A>G (p.Lys454Arg) c.1691A>G (p.Lys564Arg) c.*57A>G (n.*57A>G) | |
| 4 | g.99608818A>T | CA357512418 | MTTP | c.1610A>T (p.Lys537Met) c.1361A>T (p.Lys454Met) c.1691A>T (p.Lys564Met) c.*57A>T (n.*57A>T) | |
| 4 | g.99608819G>A | CA440330556 | MTTP | c.1611G>A (p.Lys537=) c.1362G>A (p.Lys454=) c.1692G>A (p.Lys564=) c.*58G>A (n.*58G>A) | gnomAD v4 |
| 4 | g.99608819G>C | CA357512421 | MTTP | c.1611G>C (p.Lys537Asn) c.1362G>C (p.Lys454Asn) c.1692G>C (p.Lys564Asn) c.*58G>C (n.*58G>C) | |
| 4 | g.99608819G>T | CA357512423 | MTTP | c.1611G>T (p.Lys537Asn) c.1362G>T (p.Lys454Asn) c.1692G>T (p.Lys564Asn) c.*58G>T (n.*58G>T) | |
| 4 | g.99608820A= | CA1480082410 | MTTP | c.1612A= (p.Thr538=) c.1363A= (p.Thr455=) c.1693A= (p.Thr565=) c.*59A= (n.*59A=) | |
| 4 | g.99608820A>C | CA357512428 | MTTP | c.1612A>C (p.Thr538Pro) c.1363A>C (p.Thr455Pro) c.1693A>C (p.Thr565Pro) c.*59A>C (n.*59A>C) | |
| 4 | g.99608820A>G | CA102640862 | MTTP | c.1612A>G (p.Thr538Ala) c.1363A>G (p.Thr455Ala) c.1693A>G (p.Thr565Ala) c.*59A>G (n.*59A>G) | ClinVar dbSNP |
| 4 | g.99608820A>T | CA357512435 | MTTP | c.1612A>T (p.Thr538Ser) c.1363A>T (p.Thr455Ser) c.1693A>T (p.Thr565Ser) c.*59A>T (n.*59A>T) | |
| 4 | g.99608821C>A | CA357512443 | MTTP | c.1613C>A (p.Thr538Asn) c.1364C>A (p.Thr455Asn) c.1694C>A (p.Thr565Asn) c.*60C>A (n.*60C>A) | |
| 4 | g.99608821C>G | CA357512445 | MTTP | c.1613C>G (p.Thr538Ser) c.1364C>G (p.Thr455Ser) c.1694C>G (p.Thr565Ser) c.*60C>G (n.*60C>G) | |
| 4 | g.99608821C>T | CA357512438 | MTTP | c.1613C>T (p.Thr538Ile) c.1364C>T (p.Thr455Ile) c.1694C>T (p.Thr565Ile) c.*60C>T (n.*60C>T) | |
| 4 | g.99608822T>A | CA440330559 | MTTP | c.1614T>A (p.Thr538=) c.1365T>A (p.Thr455=) c.1695T>A (p.Thr565=) c.*61T>A (n.*61T>A) | |
| 4 | g.99608822T>C | CA440330557 | MTTP | c.1614T>C (p.Thr538=) c.1365T>C (p.Thr455=) c.1695T>C (p.Thr565=) c.*61T>C (n.*61T>C) | ClinVar |
| 4 | g.99608822T>G | CA440330558 | MTTP | c.1614T>G (p.Thr538=) c.1365T>G (p.Thr455=) c.1695T>G (p.Thr565=) c.*61T>G (n.*61T>G) | |
| 4 | g.99608824_99608825del | CA2580616121 | MTTP | c.1616_1617del (p.Val539AlafsTer11) c.1367_1368del (p.Val456AlafsTer11) c.1697_1698del (p.Val566AlafsTer11) c.*63_*64del (n.*63_*64del) | ClinVar dbSNP |
| 4 | g.99608823G>A | CA357512448 | MTTP | c.1615G>A (p.Val539Met) c.1366G>A (p.Val456Met) c.1696G>A (p.Val566Met) c.*62G>A (n.*62G>A) | dbSNP |
| 4 | g.99608823G>C | CA357512452 | MTTP | c.1615G>C (p.Val539Leu) c.1366G>C (p.Val456Leu) c.1696G>C (p.Val566Leu) c.*62G>C (n.*62G>C) | |
| 4 | g.99608823G= | CA1480082411 | MTTP | c.1615G= (p.Val539=) c.1366G= (p.Val456=) c.1696G= (p.Val566=) c.*62G= (n.*62G=) | |
| 4 | g.99608823G>T | CA357512458 | MTTP | c.1615G>T (p.Val539Leu) c.1366G>T (p.Val456Leu) c.1696G>T (p.Val566Leu) c.*62G>T (n.*62G>T) | |
| 4 | g.99608824T>A | CA357512461 | MTTP | c.1616T>A (p.Val539Glu) c.1367T>A (p.Val456Glu) c.1697T>A (p.Val566Glu) c.*63T>A (n.*63T>A) | |
| 4 | g.99608824T>C | CA3022143 | MTTP | c.1616T>C (p.Val539Ala) c.1367T>C (p.Val456Ala) c.1697T>C (p.Val566Ala) c.*63T>C (n.*63T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99608824T>G | CA357512475 | MTTP | c.1616T>G (p.Val539Gly) c.1367T>G (p.Val456Gly) c.1697T>G (p.Val566Gly) c.*63T>G (n.*63T>G) | |
| 4 | g.99608824T= | CA1480082412 | MTTP | c.1616T= (p.Val539=) c.1367T= (p.Val456=) c.1697T= (p.Val566=) c.*63T= (n.*63T=) | |
| 4 | g.99608825G>A | CA3022144 | MTTP | c.1617G>A (p.Val539=) c.1368G>A (p.Val456=) c.1698G>A (p.Val566=) c.*64G>A (n.*64G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.99608825G>C | CA440330560 | MTTP | c.1617G>C (p.Val539=) c.1368G>C (p.Val456=) c.1698G>C (p.Val566=) c.*64G>C (n.*64G>C) | |
| 4 | g.99608825G= | CA1480082413 | MTTP | c.1617G= (p.Val539=) c.1368G= (p.Val456=) c.1698G= (p.Val566=) c.*64G= (n.*64G=) | |
| 4 | g.99608825G>T | CA440330561 | MTTP | c.1617G>T (p.Val539=) c.1368G>T (p.Val456=) c.1698G>T (p.Val566=) c.*64G>T (n.*64G>T) | |
| 4 | g.99608826C>A | CA357512476 | MTTP | c.1618C>A (p.Arg540Ser) c.1369C>A (p.Arg457Ser) c.1699C>A (p.Arg567Ser) c.*65C>A (n.*65C>A) | |
| 4 | g.99608826C= | CA1480082414 | MTTP | c.1618C= (p.Arg540=) c.1369C= (p.Arg457=) c.1699C= (p.Arg567=) c.*65C= (n.*65C=) | |
| 4 | g.99608826C>G | CA357512477 | MTTP | c.1618C>G (p.Arg540Gly) c.1369C>G (p.Arg457Gly) c.1699C>G (p.Arg567Gly) c.*65C>G (n.*65C>G) | |
| 4 | g.99608826C>T | CA3022145 | MTTP | c.1618C>T (p.Arg540Cys) c.1369C>T (p.Arg457Cys) c.1699C>T (p.Arg567Cys) c.*65C>T (n.*65C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.99608827G>A | CA123820 | MTTP | c.1619G>A (p.Arg540His) c.1370G>A (p.Arg457His) c.1700G>A (p.Arg567His) c.*66G>A (n.*66G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.99608827G>C | CA357512491 | MTTP | c.1619G>C (p.Arg540Pro) c.1370G>C (p.Arg457Pro) c.1700G>C (p.Arg567Pro) c.*66G>C (n.*66G>C) | |
| 4 | g.99608827G= | CA1480082415 | MTTP | c.1619G= (p.Arg540=) c.1370G= (p.Arg457=) c.1700G= (p.Arg567=) c.*66G= (n.*66G=) | |
| 4 | g.99608827G>T | CA357512480 | MTTP | c.1619G>T (p.Arg540Leu) c.1370G>T (p.Arg457Leu) c.1700G>T (p.Arg567Leu) c.*66G>T (n.*66G>T) | |
| 4 | g.99608828C>A | CA440330562 | MTTP | c.1620C>A (p.Arg540=) c.1371C>A (p.Arg457=) c.1701C>A (p.Arg567=) c.*67C>A (n.*67C>A) | |
| 4 | g.99608828C>G | CA440330563 | MTTP | c.1620C>G (p.Arg540=) c.1371C>G (p.Arg457=) c.1701C>G (p.Arg567=) c.*67C>G (n.*67C>G) | |
| 4 | g.99608828C>T | CA440330564 | MTTP | c.1620C>T (p.Arg540=) c.1371C>T (p.Arg457=) c.1701C>T (p.Arg567=) c.*67C>T (n.*67C>T) | gnomAD v4 |
| 4 | g.99608829A= | CA1480082416 | MTTP | c.1621A= (p.Thr541=) c.1372A= (p.Thr458=) c.1702A= (p.Thr568=) c.*68A= (n.*68A=) | |
| 4 | g.99608829A>C | CA357512506 | MTTP | c.1621A>C (p.Thr541Pro) c.1372A>C (p.Thr458Pro) c.1702A>C (p.Thr568Pro) c.*68A>C (n.*68A>C) | |
| 4 | g.99608829A>G | CA357512510 | MTTP | c.1621A>G (p.Thr541Ala) c.1372A>G (p.Thr458Ala) c.1702A>G (p.Thr568Ala) c.*68A>G (n.*68A>G) | |
| 4 | g.99608829A>T | CA3022146 | MTTP | c.1621A>T (p.Thr541Ser) c.1372A>T (p.Thr458Ser) c.1702A>T (p.Thr568Ser) c.*68A>T (n.*68A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99608830C>A | CA357512515 | MTTP | c.1622C>A (p.Thr541Asn) c.1373C>A (p.Thr458Asn) c.1703C>A (p.Thr568Asn) c.*69C>A (n.*69C>A) | gnomAD v4 |
| 4 | g.99608830C= | CA1480082417 | MTTP | c.1622C= (p.Thr541=) c.1373C= (p.Thr458=) c.1703C= (p.Thr568=) c.*69C= (n.*69C=) | |
| 4 | g.99608830C>G | CA357512519 | MTTP | c.1622C>G (p.Thr541Ser) c.1373C>G (p.Thr458Ser) c.1703C>G (p.Thr568Ser) c.*69C>G (n.*69C>G) | |
| 4 | g.99608830C>T | CA357512522 | MTTP | c.1622C>T (p.Thr541Ile) c.1373C>T (p.Thr458Ile) c.1703C>T (p.Thr568Ile) c.*69C>T (n.*69C>T) | dbSNP COSMIC |
| 4 | g.99608831T>A | CA440330565 | MTTP | c.1623T>A (p.Thr541=) c.1374T>A (p.Thr458=) c.1704T>A (p.Thr568=) c.*70T>A (n.*70T>A) | |
| 4 | g.99608831T>C | CA440330566 | MTTP | c.1623T>C (p.Thr541=) c.1374T>C (p.Thr458=) c.1704T>C (p.Thr568=) c.*70T>C (n.*70T>C) | gnomAD v4 |
| 4 | g.99608831T>G | CA440330567 | MTTP | c.1623T>G (p.Thr541=) c.1374T>G (p.Thr458=) c.1704T>G (p.Thr568=) c.*70T>G (n.*70T>G) | |
| 4 | g.99608832G>A | CA357512530 | MTTP | c.1624G>A (p.Ala542Thr) c.1375G>A (p.Ala459Thr) c.1705G>A (p.Ala569Thr) c.*71G>A (n.*71G>A) | COSMIC |
| 4 | g.99608832G>C | CA357512531 | MTTP | c.1624G>C (p.Ala542Pro) c.1375G>C (p.Ala459Pro) c.1705G>C (p.Ala569Pro) c.*71G>C (n.*71G>C) | |
| 4 | g.99608832G>T | CA357512532 | MTTP | c.1624G>T (p.Ala542Ser) c.1375G>T (p.Ala459Ser) c.1705G>T (p.Ala569Ser) c.*71G>T (n.*71G>T) | gnomAD v4 |
| 4 | g.99608833C>A | CA357512533 | MTTP | c.1625C>A (p.Ala542Asp) c.1376C>A (p.Ala459Asp) c.1706C>A (p.Ala569Asp) c.*72C>A (n.*72C>A) | |
| 4 | g.99608833C= | CA1480082418 | MTTP | c.1625C= (p.Ala542=) c.1376C= (p.Ala459=) c.1706C= (p.Ala569=) c.*72C= (n.*72C=) | |
| 4 | g.99608833C>G | CA357512536 | MTTP | c.1625C>G (p.Ala542Gly) c.1376C>G (p.Ala459Gly) c.1706C>G (p.Ala569Gly) c.*72C>G (n.*72C>G) | |
| 4 | g.99608833C>T | CA357512537 | MTTP | c.1625C>T (p.Ala542Val) c.1376C>T (p.Ala459Val) c.1706C>T (p.Ala569Val) c.*72C>T (n.*72C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99608834T>A | CA440330568 | MTTP | c.1626T>A (p.Ala542=) c.1377T>A (p.Ala459=) c.1707T>A (p.Ala569=) c.*73T>A (n.*73T>A) | |
| 4 | g.99608834T>C | CA440330569 | MTTP | c.1626T>C (p.Ala542=) c.1377T>C (p.Ala459=) c.1707T>C (p.Ala569=) c.*73T>C (n.*73T>C) | |
| 4 | g.99608834T>G | CA440330570 | MTTP | c.1626T>G (p.Ala542=) c.1377T>G (p.Ala459=) c.1707T>G (p.Ala569=) c.*73T>G (n.*73T>G) | |
| 4 | g.99608835G>A | CA357512542 | MTTP | c.1627G>A (p.Ala543Thr) c.1378G>A (p.Ala460Thr) c.1708G>A (p.Ala570Thr) c.*74G>A (n.*74G>A) | |
| 4 | g.99608835G>C | CA357512544 | MTTP | c.1627G>C (p.Ala543Pro) c.1378G>C (p.Ala460Pro) c.1708G>C (p.Ala570Pro) c.*74G>C (n.*74G>C) | |
| 4 | g.99608835G>T | CA357512540 | MTTP | c.1627G>T (p.Ala543Ser) c.1378G>T (p.Ala460Ser) c.1708G>T (p.Ala570Ser) c.*74G>T (n.*74G>T) | |
| 4 | g.99608836C>A | CA357512549 | MTTP | c.1628C>A (p.Ala543Glu) c.1379C>A (p.Ala460Glu) c.1709C>A (p.Ala570Glu) c.*75C>A (n.*75C>A) | |
| 4 | g.99608836C>G | CA357512546 | MTTP | c.1628C>G (p.Ala543Gly) c.1379C>G (p.Ala460Gly) c.1709C>G (p.Ala570Gly) c.*75C>G (n.*75C>G) | |
| 4 | g.99608836C>T | CA357512547 | MTTP | c.1628C>T (p.Ala543Val) c.1379C>T (p.Ala460Val) c.1709C>T (p.Ala570Val) c.*75C>T (n.*75C>T) | |
| 4 | g.99608837A>C | CA440330571 | MTTP | c.1629A>C (p.Ala543=) c.1380A>C (p.Ala460=) c.1710A>C (p.Ala570=) c.*76A>C (n.*76A>C) | |
| 4 | g.99608837A>G | CA440330572 | MTTP | c.1629A>G (p.Ala543=) c.1380A>G (p.Ala460=) c.1710A>G (p.Ala570=) c.*76A>G (n.*76A>G) | gnomAD v4 |
| 4 | g.99608837A>T | CA440330573 | MTTP | c.1629A>T (p.Ala543=) c.1380A>T (p.Ala460=) c.1710A>T (p.Ala570=) c.*76A>T (n.*76A>T) | |
| 4 | g.99608838G>A | CA357512551 | MTTP | c.1630G>A (p.Ala544Thr) c.1381G>A (p.Ala461Thr) c.1711G>A (p.Ala571Thr) c.*77G>A (n.*77G>A) | |
| 4 | g.99608838G>C | CA357512553 | MTTP | c.1630G>C (p.Ala544Pro) c.1381G>C (p.Ala461Pro) c.1711G>C (p.Ala571Pro) c.*77G>C (n.*77G>C) | |
| 4 | g.99608838G>T | CA357512554 | MTTP | c.1630G>T (p.Ala544Ser) c.1381G>T (p.Ala461Ser) c.1711G>T (p.Ala571Ser) c.*77G>T (n.*77G>T) | |
| 4 | g.99608839C>A | CA357512558 | MTTP | c.1631C>A (p.Ala544Asp) c.1382C>A (p.Ala461Asp) c.1712C>A (p.Ala571Asp) c.*78C>A (n.*78C>A) | COSMIC |
| 4 | g.99608839C>G | CA357512556 | MTTP | c.1631C>G (p.Ala544Gly) c.1382C>G (p.Ala461Gly) c.1712C>G (p.Ala571Gly) c.*78C>G (n.*78C>G) | |
| 4 | g.99608839C>T | CA357512555 | MTTP | c.1631C>T (p.Ala544Val) c.1382C>T (p.Ala461Val) c.1712C>T (p.Ala571Val) c.*78C>T (n.*78C>T) | gnomAD v4 |
| 4 | g.99608840T>A | CA440330574 | MTTP | c.1632T>A (p.Ala544=) c.1383T>A (p.Ala461=) c.1713T>A (p.Ala571=) c.*79T>A (n.*79T>A) | |
| 4 | g.99608840T>C | CA440330575 | MTTP | c.1632T>C (p.Ala544=) c.1383T>C (p.Ala461=) c.1713T>C (p.Ala571=) c.*79T>C (n.*79T>C) | |
| 4 | g.99608840T>G | CA440330576 | MTTP | c.1632T>G (p.Ala544=) c.1383T>G (p.Ala461=) c.1713T>G (p.Ala571=) c.*79T>G (n.*79T>G) | |
| 4 | g.99608841G>A | CA357512561 | MTTP | c.1633G>A (p.Ala545Thr) c.1384G>A (p.Ala462Thr) c.1714G>A (p.Ala572Thr) c.*80G>A (n.*80G>A) | |
| 4 | g.99608841G>C | CA357512565 | MTTP | c.1633G>C (p.Ala545Pro) c.1384G>C (p.Ala462Pro) c.1714G>C (p.Ala572Pro) c.*80G>C (n.*80G>C) | |
| 4 | g.99608841G>T | CA357512568 | MTTP | c.1633G>T (p.Ala545Ser) c.1384G>T (p.Ala462Ser) c.1714G>T (p.Ala572Ser) c.*80G>T (n.*80G>T) | |
| 4 | g.99608842C>A | CA357512571 | MTTP | c.1634C>A (p.Ala545Asp) c.1385C>A (p.Ala462Asp) c.1715C>A (p.Ala572Asp) c.*81C>A (n.*81C>A) | |
| 4 | g.99608842C>G | CA357512572 | MTTP | c.1634C>G (p.Ala545Gly) c.1385C>G (p.Ala462Gly) c.1715C>G (p.Ala572Gly) c.*81C>G (n.*81C>G) | |
| 4 | g.99608842C>T | CA357512578 | MTTP | c.1634C>T (p.Ala545Val) c.1385C>T (p.Ala462Val) c.1715C>T (p.Ala572Val) c.*81C>T (n.*81C>T) | |
| 4 | g.99608843T>A | CA440330577 | MTTP | c.1635T>A (p.Ala545=) c.1386T>A (p.Ala462=) c.1716T>A (p.Ala572=) c.*82T>A (n.*82T>A) | gnomAD v4 |
| 4 | g.99608843T>C | CA440330579 | MTTP | c.1635T>C (p.Ala545=) c.1386T>C (p.Ala462=) c.1716T>C (p.Ala572=) c.*82T>C (n.*82T>C) | |
| 4 | g.99608843T>G | CA440330578 | MTTP | c.1635T>G (p.Ala545=) c.1386T>G (p.Ala462=) c.1716T>G (p.Ala572=) c.*82T>G (n.*82T>G) | |
| 4 | g.99608844_99608845dup | CA2573138384 | MTTP | c.1636_1637dup (p.Ile547SerfsTer3) c.1387_1388dup (p.Ile464SerfsTer3) c.1717_1718dup (p.Ile574SerfsTer3) c.*83_*84dup (n.*83_*84dup) | ClinVar dbSNP |
| 4 | g.99608844A= | CA1480082419 | MTTP | c.1636A= (p.Ile546=) c.1387A= (p.Ile463=) c.1717A= (p.Ile573=) c.*83A= (n.*83A=) | |
| 4 | g.99608844A>C | CA357512581 | MTTP | c.1636A>C (p.Ile546Leu) c.1387A>C (p.Ile463Leu) c.1717A>C (p.Ile573Leu) c.*83A>C (n.*83A>C) | |
| 4 | g.99608844A>G | CA3022147 | MTTP | c.1636A>G (p.Ile546Val) c.1387A>G (p.Ile463Val) c.1717A>G (p.Ile573Val) c.*83A>G (n.*83A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99608844A>T | CA357512583 | MTTP | c.1636A>T (p.Ile546Phe) c.1387A>T (p.Ile463Phe) c.1717A>T (p.Ile573Phe) c.*83A>T (n.*83A>T) | dbSNP |
| 4 | g.99608845T>A | CA357512590 | MTTP | c.1637T>A (p.Ile546Asn) c.1388T>A (p.Ile463Asn) c.1718T>A (p.Ile573Asn) c.*84T>A (n.*84T>A) | |
| 4 | g.99608845T>C | CA357512592 | MTTP | c.1637T>C (p.Ile546Thr) c.1388T>C (p.Ile463Thr) c.1718T>C (p.Ile573Thr) c.*84T>C (n.*84T>C) | |
| 4 | g.99608845T>G | CA357512595 | MTTP | c.1637T>G (p.Ile546Ser) c.1388T>G (p.Ile463Ser) c.1718T>G (p.Ile573Ser) c.*84T>G (n.*84T>G) | |
| 4 | g.99608846C>A | CA440330580 | MTTP | c.1638C>A (p.Ile546=) c.1389C>A (p.Ile463=) c.1719C>A (p.Ile573=) c.*85C>A (n.*85C>A) | |
| 4 | g.99608846C>G | CA357512602 | MTTP | c.1638C>G (p.Ile546Met) c.1389C>G (p.Ile463Met) c.1719C>G (p.Ile573Met) c.*85C>G (n.*85C>G) | |
| 4 | g.99608846C>T | CA440330581 | MTTP | c.1638C>T (p.Ile546=) c.1389C>T (p.Ile463=) c.1719C>T (p.Ile573=) c.*85C>T (n.*85C>T) | |
| 4 | g.99608847A>C | CA357512605 | MTTP | c.1639A>C (p.Ile547Leu) c.1390A>C (p.Ile464Leu) c.1720A>C (p.Ile574Leu) c.*86A>C (n.*86A>C) | |
| 4 | g.99608847A>G | CA357512610 | MTTP | c.1639A>G (p.Ile547Val) c.1390A>G (p.Ile464Val) c.1720A>G (p.Ile574Val) c.*86A>G (n.*86A>G) | |
| 4 | g.99608847A>T | CA357512612 | MTTP | c.1639A>T (p.Ile547Phe) c.1390A>T (p.Ile464Phe) c.1720A>T (p.Ile574Phe) c.*86A>T (n.*86A>T) | |
| 4 | g.99608848T>A | CA357512615 | MTTP | c.1640T>A (p.Ile547Asn) c.1391T>A (p.Ile464Asn) c.1721T>A (p.Ile574Asn) c.*87T>A (n.*87T>A) | |
| 4 | g.99608848T>C | CA3022148 | MTTP | c.1640T>C (p.Ile547Thr) c.1391T>C (p.Ile464Thr) c.1721T>C (p.Ile574Thr) c.*87T>C (n.*87T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99608848T>G | CA357512617 | MTTP | c.1640T>G (p.Ile547Ser) c.1391T>G (p.Ile464Ser) c.1721T>G (p.Ile574Ser) c.*87T>G (n.*87T>G) | |
| 4 | g.99608848T= | CA1480082420 | MTTP | c.1640T= (p.Ile547=) c.1391T= (p.Ile464=) c.1721T= (p.Ile574=) c.*87T= (n.*87T=) | |
| 4 | g.99608849T>A | CA440330582 | MTTP | c.1641T>A (p.Ile547=) c.1392T>A (p.Ile464=) c.1722T>A (p.Ile574=) c.*88T>A (n.*88T>A) | |
| 4 | g.99608849T>C | CA440330583 | MTTP | c.1641T>C (p.Ile547=) c.1392T>C (p.Ile464=) c.1722T>C (p.Ile574=) c.*88T>C (n.*88T>C) | |
| 4 | g.99608849T>G | CA357512620 | MTTP | c.1641T>G (p.Ile547Met) c.1392T>G (p.Ile464Met) c.1722T>G (p.Ile574Met) c.*88T>G (n.*88T>G) | |
| 4 | g.99608850T>A | CA357512625 | MTTP | c.1642T>A (p.Leu548Ile) c.1393T>A (p.Leu465Ile) c.1723T>A (p.Leu575Ile) c.*89T>A (n.*89T>A) | |
| 4 | g.99608850T>C | CA440330584 | MTTP | c.1642T>C (p.Leu548=) c.1393T>C (p.Leu465=) c.1723T>C (p.Leu575=) c.*89T>C (n.*89T>C) | |
| 4 | g.99608850T>G | CA357512622 | MTTP | c.1642T>G (p.Leu548Val) c.1393T>G (p.Leu465Val) c.1723T>G (p.Leu575Val) c.*89T>G (n.*89T>G) | |
| 4 | g.99608851T>A | CA357512628 | MTTP | c.1643T>A (p.Leu548Ter) c.1394T>A (p.Leu465Ter) c.1724T>A (p.Leu575Ter) c.*90T>A (n.*90T>A) | |
| 4 | g.99608851T>C | CA357512632 | MTTP | c.1643T>C (p.Leu548Ser) c.1394T>C (p.Leu465Ser) c.1724T>C (p.Leu575Ser) c.*90T>C (n.*90T>C) | |
| 4 | g.99608851T>G | CA357512639 | MTTP | c.1643T>G (p.Leu548Ter) c.1394T>G (p.Leu465Ter) c.1724T>G (p.Leu575Ter) c.*90T>G (n.*90T>G) | |
| 4 | g.99608852A>C | CA357512640 | MTTP | c.1644A>C (p.Leu548Phe) c.1395A>C (p.Leu465Phe) c.1725A>C (p.Leu575Phe) c.*91A>C (n.*91A>C) | |
| 4 | g.99608852A>G | CA440330585 | MTTP | c.1644A>G (p.Leu548=) c.1395A>G (p.Leu465=) c.1725A>G (p.Leu575=) c.*91A>G (n.*91A>G) | |
| 4 | g.99608852A>T | CA357512643 | MTTP | c.1644A>T (p.Leu548Phe) c.1395A>T (p.Leu465Phe) c.1725A>T (p.Leu575Phe) c.*91A>T (n.*91A>T) | |
| 4 | g.99608854del | CA2580071900 | MTTP | c.1646del (p.Asn549IlefsTer23) c.1397del (p.Asn466IlefsTer23) c.1727del (p.Asn576IlefsTer23) c.*93del (n.*93del) | ClinVar |
| 4 | g.99608853A= | CA1480082421 | MTTP | c.1645A= (p.Asn549=) c.1396A= (p.Asn466=) c.1726A= (p.Asn576=) c.*92A= (n.*92A=) | |
| 4 | g.99608853A>C | CA357512646 | MTTP | c.1645A>C (p.Asn549His) c.1396A>C (p.Asn466His) c.1726A>C (p.Asn576His) c.*92A>C (n.*92A>C) | dbSNP gnomAD v4 |
| 4 | g.99608853A>G | CA357512654 | MTTP | c.1645A>G (p.Asn549Asp) c.1396A>G (p.Asn466Asp) c.1726A>G (p.Asn576Asp) c.*92A>G (n.*92A>G) | dbSNP |
| 4 | g.99608853A>T | CA357512657 | MTTP | c.1645A>T (p.Asn549Tyr) c.1396A>T (p.Asn466Tyr) c.1726A>T (p.Asn576Tyr) c.*92A>T (n.*92A>T) | |
| 4 | g.99608854A>C | CA357512659 | MTTP | c.1646A>C (p.Asn549Thr) c.1397A>C (p.Asn466Thr) c.1727A>C (p.Asn576Thr) c.*93A>C (n.*93A>C) | |
| 4 | g.99608854A>G | CA357512663 | MTTP | c.1646A>G (p.Asn549Ser) c.1397A>G (p.Asn466Ser) c.1727A>G (p.Asn576Ser) c.*93A>G (n.*93A>G) | gnomAD v4 |
| 4 | g.99608854A>T | CA357512666 | MTTP | c.1646A>T (p.Asn549Ile) c.1397A>T (p.Asn466Ile) c.1727A>T (p.Asn576Ile) c.*93A>T (n.*93A>T) | |
| 4 | g.99608855T>A | CA357512671 | MTTP | c.1647T>A (p.Asn549Lys) c.1398T>A (p.Asn466Lys) c.1728T>A (p.Asn576Lys) c.*94T>A (n.*94T>A) | dbSNP |
| 4 | g.99608855T>C | CA440330586 | MTTP | c.1647T>C (p.Asn549=) c.1398T>C (p.Asn466=) c.1728T>C (p.Asn576=) c.*94T>C (n.*94T>C) | ClinVar |
| 4 | g.99608855T>G | CA357512674 | MTTP | c.1647T>G (p.Asn549Lys) c.1398T>G (p.Asn466Lys) c.1728T>G (p.Asn576Lys) c.*94T>G (n.*94T>G) | |
| 4 | g.99608856A>C | CA357512681 | MTTP | c.1648A>C (p.Asn550His) c.1399A>C (p.Asn467His) c.1729A>C (p.Asn577His) c.*95A>C (n.*95A>C) | |
| 4 | g.99608856A>G | CA357512684 | MTTP | c.1648A>G (p.Asn550Asp) c.1399A>G (p.Asn467Asp) c.1729A>G (p.Asn577Asp) c.*95A>G (n.*95A>G) | |
| 4 | g.99608856A>T | CA357512679 | MTTP | c.1648A>T (p.Asn550Tyr) c.1399A>T (p.Asn467Tyr) c.1729A>T (p.Asn577Tyr) c.*95A>T (n.*95A>T) | |
| 4 | g.99608857A= | CA1480082422 | MTTP | c.1649A= (p.Asn550=) c.1400A= (p.Asn467=) c.1730A= (p.Asn577=) c.*96A= (n.*96A=) | |
| 4 | g.99608857A>C | CA357512690 | MTTP | c.1649A>C (p.Asn550Thr) c.1400A>C (p.Asn467Thr) c.1730A>C (p.Asn577Thr) c.*96A>C (n.*96A>C) | |
| 4 | g.99608857A>G | CA3022149 | MTTP | c.1649A>G (p.Asn550Ser) c.1400A>G (p.Asn467Ser) c.1730A>G (p.Asn577Ser) c.*96A>G (n.*96A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99608857A>T | CA357512694 | MTTP | c.1649A>T (p.Asn550Ile) c.1400A>T (p.Asn467Ile) c.1730A>T (p.Asn577Ile) c.*96A>T (n.*96A>T) | |
| 4 | g.99608858C>A | CA357512698 | MTTP | c.1650C>A (p.Asn550Lys) c.1401C>A (p.Asn467Lys) c.1731C>A (p.Asn577Lys) c.*97C>A (n.*97C>A) | |
| 4 | g.99608858C>G | CA357512700 | MTTP | c.1650C>G (p.Asn550Lys) c.1401C>G (p.Asn467Lys) c.1731C>G (p.Asn577Lys) c.*97C>G (n.*97C>G) | gnomAD v4 |
| 4 | g.99608858C>T | CA440330587 | MTTP | c.1650C>T (p.Asn550=) c.1401C>T (p.Asn467=) c.1731C>T (p.Asn577=) c.*97C>T (n.*97C>T) | ClinVar dbSNP |
| 4 | g.99608859A>C | CA357512709 | MTTP | c.1651A>C (p.Asn551His) c.1402A>C (p.Asn468His) c.1732A>C (p.Asn578His) c.*98A>C (n.*98A>C) | |
| 4 | g.99608859A>G | CA357512704 | MTTP | c.1651A>G (p.Asn551Asp) c.1402A>G (p.Asn468Asp) c.1732A>G (p.Asn578Asp) c.*98A>G (n.*98A>G) | |
| 4 | g.99608859A>T | CA357512706 | MTTP | c.1651A>T (p.Asn551Tyr) c.1402A>T (p.Asn468Tyr) c.1732A>T (p.Asn578Tyr) c.*98A>T (n.*98A>T) | |
| 4 | g.99608860A>C | CA357512715 | MTTP | c.1652A>C (p.Asn551Thr) c.1403A>C (p.Asn468Thr) c.1733A>C (p.Asn578Thr) c.*99A>C (n.*99A>C) | |
| 4 | g.99608860A>G | CA357512717 | MTTP | c.1652A>G (p.Asn551Ser) c.1403A>G (p.Asn468Ser) c.1733A>G (p.Asn578Ser) c.*99A>G (n.*99A>G) | |
| 4 | g.99608860A>T | CA357512721 | MTTP | c.1652A>T (p.Asn551Ile) c.1403A>T (p.Asn468Ile) c.1733A>T (p.Asn578Ile) c.*99A>T (n.*99A>T) | ClinVar dbSNP |
| 4 | g.99608861T>A | CA357512728 | MTTP | c.1653T>A (p.Asn551Lys) c.1404T>A (p.Asn468Lys) c.1734T>A (p.Asn578Lys) c.*100T>A (n.*100T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99608861T>C | CA440330588 | MTTP | c.1653T>C (p.Asn551=) c.1404T>C (p.Asn468=) c.1734T>C (p.Asn578=) c.*100T>C (n.*100T>C) | ClinVar dbSNP gnomAD v4 |
| 4 | g.99608861T>G | CA357512730 | MTTP | c.1653T>G (p.Asn551Lys) c.1404T>G (p.Asn468Lys) c.1734T>G (p.Asn578Lys) c.*100T>G (n.*100T>G) | |
| 4 | g.99608861T= | CA1480082423 | MTTP | c.1653T= (p.Asn551=) c.1404T= (p.Asn468=) c.1734T= (p.Asn578=) c.*100T= (n.*100T=) | |
| 4 | g.99608862C>A | CA357512734 | MTTP | c.1654C>A (p.Pro552Thr) c.1405C>A (p.Pro469Thr) c.1735C>A (p.Pro579Thr) c.*101C>A (n.*101C>A) | |
| 4 | g.99608862C>G | CA357512733 | MTTP | c.1654C>G (p.Pro552Ala) c.1405C>G (p.Pro469Ala) c.1735C>G (p.Pro579Ala) c.*101C>G (n.*101C>G) | ClinVar gnomAD v4 |
| 4 | g.99608862C>T | CA357512732 | MTTP | c.1654C>T (p.Pro552Ser) c.1405C>T (p.Pro469Ser) c.1735C>T (p.Pro579Ser) c.*101C>T (n.*101C>T) | |
| 4 | g.99608863C>A | CA357512735 | MTTP | c.1655C>A (p.Pro552Gln) c.1406C>A (p.Pro469Gln) c.1736C>A (p.Pro579Gln) c.*102C>A (n.*102C>A) | |
| 4 | g.99608863C= | CA1480082424 | MTTP | c.1655C= (p.Pro552=) c.1406C= (p.Pro469=) c.1736C= (p.Pro579=) c.*102C= (n.*102C=) | |
| 4 | g.99608863C>G | CA357512738 | MTTP | c.1655C>G (p.Pro552Arg) c.1406C>G (p.Pro469Arg) c.1736C>G (p.Pro579Arg) c.*102C>G (n.*102C>G) | |
| 4 | g.99608863C>T | CA3022150 | MTTP | c.1655C>T (p.Pro552Leu) c.1406C>T (p.Pro469Leu) c.1736C>T (p.Pro579Leu) c.*102C>T (n.*102C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |