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.197142391T>A | CA344013099 | ASPM | c.1861A>T (p.Thr621Ser) n.2078A>T c.561+1300A>T (n.561+1300A>T) | |
| 1 | g.197142391T>C | CA344013100 | ASPM | c.1861A>G (p.Thr621Ala) n.2078A>G c.561+1300A>G (n.561+1300A>G) | gnomAD v4 |
| 1 | g.197142391T>G | CA344013102 | ASPM | c.1861A>C (p.Thr621Pro) n.2078A>C c.561+1300A>C (n.561+1300A>C) | |
| 1 | g.197142392C>A | CA422677134 | ASPM | c.1860G>T (p.Val620=) n.2077G>T c.561+1299G>T (n.561+1299G>T) | gnomAD v4 |
| 1 | g.197142392C= | CA1217946589 | ASPM | c.1860G= (p.Val620=) n.2077G= c.561+1299G= (n.561+1299G=) | |
| 1 | g.197142392C>G | CA422677132 | ASPM | c.1860G>C (p.Val620=) n.2077G>C c.561+1299G>C (n.561+1299G>C) | |
| 1 | g.197142392C>T | CA422677133 | ASPM | c.1860G>A (p.Val620=) n.2077G>A c.561+1299G>A (n.561+1299G>A) | dbSNP gnomAD v4 |
| 1 | g.197142393A= | CA1217946590 | ASPM | c.1859T= (p.Val620=) n.2076T= c.561+1298T= (n.561+1298T=) | |
| 1 | g.197142393A>C | CA344013105 | ASPM | c.1859T>G (p.Val620Gly) n.2076T>G c.561+1298T>G (n.561+1298T>G) | |
| 1 | g.197142393A>G | CA344013107 | ASPM | c.1859T>C (p.Val620Ala) n.2076T>C c.561+1298T>C (n.561+1298T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197142393A>T | CA344013110 | ASPM | c.1859T>A (p.Val620Glu) n.2076T>A c.561+1298T>A (n.561+1298T>A) | |
| 1 | g.197142394C>A | CA344013112 | ASPM | c.1858G>T (p.Val620Leu) n.2075G>T c.561+1297G>T (n.561+1297G>T) | |
| 1 | g.197142394C>G | CA344013114 | ASPM | c.1858G>C (p.Val620Leu) n.2075G>C c.561+1297G>C (n.561+1297G>C) | COSMIC |
| 1 | g.197142394C>T | CA344013117 | ASPM | c.1858G>A (p.Val620Met) n.2075G>A c.561+1297G>A (n.561+1297G>A) | |
| 1 | g.197142395A= | CA1148454157 | ASPM | c.1857T= (p.Asn619=) n.2074T= c.561+1296T= (n.561+1296T=) | |
| 1 | g.197142395A>C | CA344013124 | ASPM | c.1857T>G (p.Asn619Lys) n.2074T>G c.561+1296T>G (n.561+1296T>G) | |
| 1 | g.197142395A>G | CA1310636 | ASPM | c.1857T>C (p.Asn619=) n.2074T>C c.561+1296T>C (n.561+1296T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197142395A>T | CA344013121 | ASPM | c.1857T>A (p.Asn619Lys) n.2074T>A c.561+1296T>A (n.561+1296T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197142396T>A | CA344013127 | ASPM | c.1856A>T (p.Asn619Ile) n.2073A>T c.561+1295A>T (n.561+1295A>T) | |
| 1 | g.197142396T>C | CA344013129 | ASPM | c.1856A>G (p.Asn619Ser) n.2073A>G c.561+1295A>G (n.561+1295A>G) | |
| 1 | g.197142396T>G | CA344013131 | ASPM | c.1856A>C (p.Asn619Thr) n.2073A>C c.561+1295A>C (n.561+1295A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197142396T= | CA1217946595 | ASPM | c.1856A= (p.Asn619=) n.2073A= c.561+1295A= (n.561+1295A=) | |
| 1 | g.197142401dup | CA2747241269 | ASPM | c.1856dup (p.Asn619LysfsTer11) n.2073dup c.561+1295dup (n.561+1295dup) | |
| 1 | g.197142397T>A | CA344013133 | ASPM | c.1855A>T (p.Asn619Tyr) n.2072A>T c.561+1294A>T (n.561+1294A>T) | |
| 1 | g.197142397T>C | CA344013134 | ASPM | c.1855A>G (p.Asn619Asp) n.2072A>G c.561+1294A>G (n.561+1294A>G) | gnomAD v4 |
| 1 | g.197142397T>G | CA344013137 | ASPM | c.1855A>C (p.Asn619His) n.2072A>C c.561+1294A>C (n.561+1294A>C) | |
| 1 | g.197142398T>A | CA344013139 | ASPM | c.1854A>T (p.Lys618Asn) n.2071A>T c.561+1293A>T (n.561+1293A>T) | |
| 1 | g.197142398T>C | CA422677135 | ASPM | c.1854A>G (p.Lys618=) n.2071A>G c.561+1293A>G (n.561+1293A>G) | |
| 1 | g.197142398T>G | CA344013140 | ASPM | c.1854A>C (p.Lys618Asn) n.2071A>C c.561+1293A>C (n.561+1293A>C) | |
| 1 | g.197142399T>A | CA344013142 | ASPM | c.1853A>T (p.Lys618Ile) n.2070A>T c.561+1292A>T (n.561+1292A>T) | |
| 1 | g.197142399T>C | CA344013144 | ASPM | c.1853A>G (p.Lys618Arg) n.2070A>G c.561+1292A>G (n.561+1292A>G) | |
| 1 | g.197142399T>G | CA344013146 | ASPM | c.1853A>C (p.Lys618Thr) n.2070A>C c.561+1292A>C (n.561+1292A>C) | |
| 1 | g.197142402_197142405del | CA2586967850 | ASPM | c.1850_1853del (p.Thr617LysfsTer3) n.2067_2070del c.561+1289_561+1292del (n.561+1289_561+1292del) | |
| 1 | g.197142400T>A | CA344013151 | ASPM | c.1852A>T (p.Lys618Ter) n.2069A>T c.561+1291A>T (n.561+1291A>T) | |
| 1 | g.197142400T>C | CA344013149 | ASPM | c.1852A>G (p.Lys618Glu) n.2069A>G c.561+1291A>G (n.561+1291A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197142400T>G | CA344013148 | ASPM | c.1852A>C (p.Lys618Gln) n.2069A>C c.561+1291A>C (n.561+1291A>C) | |
| 1 | g.197142400T= | CA1217946597 | ASPM | c.1852A= (p.Lys618=) n.2069A= c.561+1291A= (n.561+1291A=) | |
| 1 | g.197142402_197142404del | CA2574105279 | ASPM | c.1850_1852del (p.Thr617del) n.2067_2069del c.561+1289_561+1291del (n.561+1289_561+1291del) | |
| 1 | g.197142401T>A | CA422677136 | ASPM | c.1851A>T (p.Thr617=) n.2068A>T c.561+1290A>T (n.561+1290A>T) | COSMIC |
| 1 | g.197142401T>C | CA422677137 | ASPM | c.1851A>G (p.Thr617=) n.2068A>G c.561+1290A>G (n.561+1290A>G) | gnomAD v4 |
| 1 | g.197142401T>G | CA422677138 | ASPM | c.1851A>C (p.Thr617=) n.2068A>C c.561+1290A>C (n.561+1290A>C) | |
| 1 | g.197142401_197142402delinsTG | CA1217946599 | ASPM | c.1850_1851delinsCA (p.Thr617=) n.2067_2068delinsCA c.561+1289_561+1290delinsCA (n.561+1289_561+1290delinsCA) | |
| 1 | g.197142402del | CA1217946602 | ASPM | c.1850del (p.Thr617LysfsTer4) n.2067del c.561+1289del (n.561+1289del) | dbSNP |
| 1 | g.197142402G>A | CA344013159 | ASPM | c.1850C>T (p.Thr617Ile) n.2067C>T c.561+1289C>T (n.561+1289C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197142402G>C | CA344013154 | ASPM | c.1850C>G (p.Thr617Arg) n.2067C>G c.561+1289C>G (n.561+1289C>G) | |
| 1 | g.197142402G= | CA1217946600 | ASPM | c.1850C= (p.Thr617=) n.2067C= c.561+1289C= (n.561+1289C=) | |
| 1 | g.197142402G>T | CA344013157 | ASPM | c.1850C>A (p.Thr617Lys) n.2067C>A c.561+1289C>A (n.561+1289C>A) | gnomAD v4 |
| 1 | g.197142403T>A | CA344013161 | ASPM | c.1849A>T (p.Thr617Ser) n.2066A>T c.561+1288A>T (n.561+1288A>T) | ClinVar dbSNP |
| 1 | g.197142403T>C | CA344013164 | ASPM | c.1849A>G (p.Thr617Ala) n.2066A>G c.561+1288A>G (n.561+1288A>G) | |
| 1 | g.197142403T>G | CA344013166 | ASPM | c.1849A>C (p.Thr617Pro) n.2066A>C c.561+1288A>C (n.561+1288A>C) |