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 |
|---|---|---|---|---|---|
| 9 | g.115046519T>A | CA374630921 | TNC | c.318-4178A>T c.3215-4178A>T (n.3215-4178A>T) c.3927A>T (p.Glu1309Asp) c.1959A>T (p.Glu653Asp) c.615A>T (p.Glu205Asp) c.3974A>T c.5016A>T (p.Glu1672Asp) c.4470A>T (p.Glu1490Asp) c.4307-4178A>T (n.4307-4178A>T) n.334A>T n.253-4178A>T n.40-4178A>T c.703A>T c.4743A>T (p.Glu1581Asp) c.4034-4178A>T (n.4034-4178A>T) c.3378A>T (p.Glu1126Asp) c.5292A>T (p.Glu1764Asp) c.3488-4178A>T (n.3488-4178A>T) c.5019A>T (p.Glu1673Asp) c.4473A>T (p.Glu1491Asp) c.4580-4178A>T (n.4580-4178A>T) c.4200A>T (p.Glu1400Asp) c.3761-4178A>T (n.3761-4178A>T) c.3651A>T (p.Glu1217Asp) c.5565A>T (p.Glu1855Asp) c.5289A>T (p.Glu1763Asp) | |
| 9 | g.115046519T>C | CA466912435 | TNC | c.318-4178A>G c.3215-4178A>G (n.3215-4178A>G) c.3927A>G (p.Glu1309=) c.1959A>G (p.Glu653=) c.615A>G (p.Glu205=) c.3974A>G c.5016A>G (p.Glu1672=) c.4470A>G (p.Glu1490=) c.4307-4178A>G (n.4307-4178A>G) n.334A>G n.253-4178A>G n.40-4178A>G c.703A>G c.4743A>G (p.Glu1581=) c.4034-4178A>G (n.4034-4178A>G) c.3378A>G (p.Glu1126=) c.5292A>G (p.Glu1764=) c.3488-4178A>G (n.3488-4178A>G) c.5019A>G (p.Glu1673=) c.4473A>G (p.Glu1491=) c.4580-4178A>G (n.4580-4178A>G) c.4200A>G (p.Glu1400=) c.3761-4178A>G (n.3761-4178A>G) c.3651A>G (p.Glu1217=) c.5565A>G (p.Glu1855=) c.5289A>G (p.Glu1763=) | |
| 9 | g.115046519T>G | CA374630922 | TNC | c.318-4178A>C c.3215-4178A>C (n.3215-4178A>C) c.3927A>C (p.Glu1309Asp) c.1959A>C (p.Glu653Asp) c.615A>C (p.Glu205Asp) c.3974A>C c.5016A>C (p.Glu1672Asp) c.4470A>C (p.Glu1490Asp) c.4307-4178A>C (n.4307-4178A>C) n.334A>C n.253-4178A>C n.40-4178A>C c.703A>C c.4743A>C (p.Glu1581Asp) c.4034-4178A>C (n.4034-4178A>C) c.3378A>C (p.Glu1126Asp) c.5292A>C (p.Glu1764Asp) c.3488-4178A>C (n.3488-4178A>C) c.5019A>C (p.Glu1673Asp) c.4473A>C (p.Glu1491Asp) c.4580-4178A>C (n.4580-4178A>C) c.4200A>C (p.Glu1400Asp) c.3761-4178A>C (n.3761-4178A>C) c.3651A>C (p.Glu1217Asp) c.5565A>C (p.Glu1855Asp) c.5289A>C (p.Glu1763Asp) | |
| 9 | g.115046520T>A | CA374630924 | TNC | c.318-4179A>T c.3215-4179A>T (n.3215-4179A>T) c.3926A>T (p.Glu1309Val) c.1958A>T (p.Glu653Val) c.614A>T (p.Glu205Val) c.3973A>T c.5015A>T (p.Glu1672Val) c.4469A>T (p.Glu1490Val) c.4307-4179A>T (n.4307-4179A>T) n.333A>T n.253-4179A>T n.40-4179A>T c.702A>T c.4742A>T (p.Glu1581Val) c.4034-4179A>T (n.4034-4179A>T) c.3377A>T (p.Glu1126Val) c.5291A>T (p.Glu1764Val) c.3488-4179A>T (n.3488-4179A>T) c.5018A>T (p.Glu1673Val) c.4472A>T (p.Glu1491Val) c.4580-4179A>T (n.4580-4179A>T) c.4199A>T (p.Glu1400Val) c.3761-4179A>T (n.3761-4179A>T) c.3650A>T (p.Glu1217Val) c.5564A>T (p.Glu1855Val) c.5288A>T (p.Glu1763Val) | |
| 9 | g.115046520T>C | CA374630925 | TNC | c.318-4179A>G c.3215-4179A>G (n.3215-4179A>G) c.3926A>G (p.Glu1309Gly) c.1958A>G (p.Glu653Gly) c.614A>G (p.Glu205Gly) c.3973A>G c.5015A>G (p.Glu1672Gly) c.4469A>G (p.Glu1490Gly) c.4307-4179A>G (n.4307-4179A>G) n.333A>G n.253-4179A>G n.40-4179A>G c.702A>G c.4742A>G (p.Glu1581Gly) c.4034-4179A>G (n.4034-4179A>G) c.3377A>G (p.Glu1126Gly) c.5291A>G (p.Glu1764Gly) c.3488-4179A>G (n.3488-4179A>G) c.5018A>G (p.Glu1673Gly) c.4472A>G (p.Glu1491Gly) c.4580-4179A>G (n.4580-4179A>G) c.4199A>G (p.Glu1400Gly) c.3761-4179A>G (n.3761-4179A>G) c.3650A>G (p.Glu1217Gly) c.5564A>G (p.Glu1855Gly) c.5288A>G (p.Glu1763Gly) | |
| 9 | g.115046520T>G | CA374630927 | TNC | c.318-4179A>C c.3215-4179A>C (n.3215-4179A>C) c.3926A>C (p.Glu1309Ala) c.1958A>C (p.Glu653Ala) c.614A>C (p.Glu205Ala) c.3973A>C c.5015A>C (p.Glu1672Ala) c.4469A>C (p.Glu1490Ala) c.4307-4179A>C (n.4307-4179A>C) n.333A>C n.253-4179A>C n.40-4179A>C c.702A>C c.4742A>C (p.Glu1581Ala) c.4034-4179A>C (n.4034-4179A>C) c.3377A>C (p.Glu1126Ala) c.5291A>C (p.Glu1764Ala) c.3488-4179A>C (n.3488-4179A>C) c.5018A>C (p.Glu1673Ala) c.4472A>C (p.Glu1491Ala) c.4580-4179A>C (n.4580-4179A>C) c.4199A>C (p.Glu1400Ala) c.3761-4179A>C (n.3761-4179A>C) c.3650A>C (p.Glu1217Ala) c.5564A>C (p.Glu1855Ala) c.5288A>C (p.Glu1763Ala) | |
| 9 | g.115046521del | CA2691393497 | TNC | c.318-4180del c.3215-4180del (n.3215-4180del) c.3925del (p.Glu1309AsnfsTer6) c.1957del (p.Glu653AsnfsTer6) c.613del (p.Glu205AsnfsTer6) c.3972del c.5014del (p.Glu1672AsnfsTer6) c.4468del (p.Glu1490AsnfsTer6) c.4307-4180del (n.4307-4180del) n.332del n.253-4180del n.40-4180del c.701del c.4741del (p.Glu1581AsnfsTer6) c.4034-4180del (n.4034-4180del) c.3376del (p.Glu1126AsnfsTer6) c.5290del (p.Glu1764AsnfsTer6) c.3488-4180del (n.3488-4180del) c.5017del (p.Glu1673AsnfsTer6) c.4471del (p.Glu1491AsnfsTer6) c.4580-4180del (n.4580-4180del) c.4198del (p.Glu1400AsnfsTer6) c.3761-4180del (n.3761-4180del) c.3649del (p.Glu1217AsnfsTer6) c.5563del (p.Glu1855AsnfsTer6) c.5287del (p.Glu1763AsnfsTer6) | gnomAD v4 |
| 9 | g.115046521C>A | CA374630929 | TNC | c.318-4180G>T c.3215-4180G>T (n.3215-4180G>T) c.3925G>T (p.Glu1309Ter) c.1957G>T (p.Glu653Ter) c.613G>T (p.Glu205Ter) c.3972G>T c.5014G>T (p.Glu1672Ter) c.4468G>T (p.Glu1490Ter) c.4307-4180G>T (n.4307-4180G>T) n.332G>T n.253-4180G>T n.40-4180G>T c.701G>T c.4741G>T (p.Glu1581Ter) c.4034-4180G>T (n.4034-4180G>T) c.3376G>T (p.Glu1126Ter) c.5290G>T (p.Glu1764Ter) c.3488-4180G>T (n.3488-4180G>T) c.5017G>T (p.Glu1673Ter) c.4471G>T (p.Glu1491Ter) c.4580-4180G>T (n.4580-4180G>T) c.4198G>T (p.Glu1400Ter) c.3761-4180G>T (n.3761-4180G>T) c.3649G>T (p.Glu1217Ter) c.5563G>T (p.Glu1855Ter) c.5287G>T (p.Glu1763Ter) | gnomAD v4 |
| 9 | g.115046521C= | CA1874118900 | TNC | c.318-4180G= c.3215-4180G= (n.3215-4180G=) c.3925G= (p.Glu1309=) c.1957G= (p.Glu653=) c.613G= (p.Glu205=) c.3972G= c.5014G= (p.Glu1672=) c.4468G= (p.Glu1490=) c.4307-4180G= (n.4307-4180G=) n.332G= n.253-4180G= n.40-4180G= c.701G= c.4741G= (p.Glu1581=) c.4034-4180G= (n.4034-4180G=) c.3376G= (p.Glu1126=) c.5290G= (p.Glu1764=) c.3488-4180G= (n.3488-4180G=) c.5017G= (p.Glu1673=) c.4471G= (p.Glu1491=) c.4580-4180G= (n.4580-4180G=) c.4198G= (p.Glu1400=) c.3761-4180G= (n.3761-4180G=) c.3649G= (p.Glu1217=) c.5563G= (p.Glu1855=) c.5287G= (p.Glu1763=) | |
| 9 | g.115046521C>G | CA374630931 | TNC | c.318-4180G>C c.3215-4180G>C (n.3215-4180G>C) c.3925G>C (p.Glu1309Gln) c.1957G>C (p.Glu653Gln) c.613G>C (p.Glu205Gln) c.3972G>C c.5014G>C (p.Glu1672Gln) c.4468G>C (p.Glu1490Gln) c.4307-4180G>C (n.4307-4180G>C) n.332G>C n.253-4180G>C n.40-4180G>C c.701G>C c.4741G>C (p.Glu1581Gln) c.4034-4180G>C (n.4034-4180G>C) c.3376G>C (p.Glu1126Gln) c.5290G>C (p.Glu1764Gln) c.3488-4180G>C (n.3488-4180G>C) c.5017G>C (p.Glu1673Gln) c.4471G>C (p.Glu1491Gln) c.4580-4180G>C (n.4580-4180G>C) c.4198G>C (p.Glu1400Gln) c.3761-4180G>C (n.3761-4180G>C) c.3649G>C (p.Glu1217Gln) c.5563G>C (p.Glu1855Gln) c.5287G>C (p.Glu1763Gln) | |
| 9 | g.115046521C>T | CA374630930 | TNC | c.318-4180G>A c.3215-4180G>A (n.3215-4180G>A) c.3925G>A (p.Glu1309Lys) c.1957G>A (p.Glu653Lys) c.613G>A (p.Glu205Lys) c.3972G>A c.5014G>A (p.Glu1672Lys) c.4468G>A (p.Glu1490Lys) c.4307-4180G>A (n.4307-4180G>A) n.332G>A n.253-4180G>A n.40-4180G>A c.701G>A c.4741G>A (p.Glu1581Lys) c.4034-4180G>A (n.4034-4180G>A) c.3376G>A (p.Glu1126Lys) c.5290G>A (p.Glu1764Lys) c.3488-4180G>A (n.3488-4180G>A) c.5017G>A (p.Glu1673Lys) c.4471G>A (p.Glu1491Lys) c.4580-4180G>A (n.4580-4180G>A) c.4198G>A (p.Glu1400Lys) c.3761-4180G>A (n.3761-4180G>A) c.3649G>A (p.Glu1217Lys) c.5563G>A (p.Glu1855Lys) c.5287G>A (p.Glu1763Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.115046522G>A | CA466912437 | TNC | c.318-4181C>T c.3215-4181C>T (n.3215-4181C>T) c.3924C>T (p.Pro1308=) c.1956C>T (p.Pro652=) c.612C>T (p.Pro204=) c.3971C>T c.5013C>T (p.Pro1671=) c.4467C>T (p.Pro1489=) c.4307-4181C>T (n.4307-4181C>T) n.331C>T n.253-4181C>T n.40-4181C>T c.700C>T c.4740C>T (p.Pro1580=) c.4034-4181C>T (n.4034-4181C>T) c.3375C>T (p.Pro1125=) c.5289C>T (p.Pro1763=) c.3488-4181C>T (n.3488-4181C>T) c.5016C>T (p.Pro1672=) c.4470C>T (p.Pro1490=) c.4580-4181C>T (n.4580-4181C>T) c.4197C>T (p.Pro1399=) c.3761-4181C>T (n.3761-4181C>T) c.3648C>T (p.Pro1216=) c.5562C>T (p.Pro1854=) c.5286C>T (p.Pro1762=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.115046522G>C | CA466912438 | TNC | c.318-4181C>G c.3215-4181C>G (n.3215-4181C>G) c.3924C>G (p.Pro1308=) c.1956C>G (p.Pro652=) c.612C>G (p.Pro204=) c.3971C>G c.5013C>G (p.Pro1671=) c.4467C>G (p.Pro1489=) c.4307-4181C>G (n.4307-4181C>G) n.331C>G n.253-4181C>G n.40-4181C>G c.700C>G c.4740C>G (p.Pro1580=) c.4034-4181C>G (n.4034-4181C>G) c.3375C>G (p.Pro1125=) c.5289C>G (p.Pro1763=) c.3488-4181C>G (n.3488-4181C>G) c.5016C>G (p.Pro1672=) c.4470C>G (p.Pro1490=) c.4580-4181C>G (n.4580-4181C>G) c.4197C>G (p.Pro1399=) c.3761-4181C>G (n.3761-4181C>G) c.3648C>G (p.Pro1216=) c.5562C>G (p.Pro1854=) c.5286C>G (p.Pro1762=) | gnomAD v4 |
| 9 | g.115046522G= | CA1874118901 | TNC | c.318-4181C= c.3215-4181C= (n.3215-4181C=) c.3924C= (p.Pro1308=) c.1956C= (p.Pro652=) c.612C= (p.Pro204=) c.3971C= c.5013C= (p.Pro1671=) c.4467C= (p.Pro1489=) c.4307-4181C= (n.4307-4181C=) n.331C= n.253-4181C= n.40-4181C= c.700C= c.4740C= (p.Pro1580=) c.4034-4181C= (n.4034-4181C=) c.3375C= (p.Pro1125=) c.5289C= (p.Pro1763=) c.3488-4181C= (n.3488-4181C=) c.5016C= (p.Pro1672=) c.4470C= (p.Pro1490=) c.4580-4181C= (n.4580-4181C=) c.4197C= (p.Pro1399=) c.3761-4181C= (n.3761-4181C=) c.3648C= (p.Pro1216=) c.5562C= (p.Pro1854=) c.5286C= (p.Pro1762=) | |
| 9 | g.115046522G>T | CA5207772 | TNC | c.318-4181C>A c.3215-4181C>A (n.3215-4181C>A) c.3924C>A (p.Pro1308=) c.1956C>A (p.Pro652=) c.612C>A (p.Pro204=) c.3971C>A c.5013C>A (p.Pro1671=) c.4467C>A (p.Pro1489=) c.4307-4181C>A (n.4307-4181C>A) n.331C>A n.253-4181C>A n.40-4181C>A c.700C>A c.4740C>A (p.Pro1580=) c.4034-4181C>A (n.4034-4181C>A) c.3375C>A (p.Pro1125=) c.5289C>A (p.Pro1763=) c.3488-4181C>A (n.3488-4181C>A) c.5016C>A (p.Pro1672=) c.4470C>A (p.Pro1490=) c.4580-4181C>A (n.4580-4181C>A) c.4197C>A (p.Pro1399=) c.3761-4181C>A (n.3761-4181C>A) c.3648C>A (p.Pro1216=) c.5562C>A (p.Pro1854=) c.5286C>A (p.Pro1762=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.115046526dup | CA658773192 | TNC | c.318-4181dup c.3215-4181dup (n.3215-4181dup) c.3924dup (p.Glu1309ArgfsTer14) c.1956dup (p.Glu653ArgfsTer14) c.612dup (p.Glu205ArgfsTer14) c.3971dup c.5013dup (p.Glu1672ArgfsTer14) c.4467dup (p.Glu1490ArgfsTer14) c.4307-4181dup (n.4307-4181dup) n.331dup n.253-4181dup n.40-4181dup c.700dup c.4740dup (p.Glu1581ArgfsTer14) c.4034-4181dup (n.4034-4181dup) c.3375dup (p.Glu1126ArgfsTer14) c.5289dup (p.Glu1764ArgfsTer14) c.3488-4181dup (n.3488-4181dup) c.5016dup (p.Glu1673ArgfsTer14) c.4470dup (p.Glu1491ArgfsTer14) c.4580-4181dup (n.4580-4181dup) c.4197dup (p.Glu1400ArgfsTer14) c.3761-4181dup (n.3761-4181dup) c.3648dup (p.Glu1217ArgfsTer14) c.5562dup (p.Glu1855ArgfsTer14) c.5286dup (p.Glu1763ArgfsTer14) | |
| 9 | g.115046523G>A | CA374630934 | TNC | c.318-4182C>T c.3215-4182C>T (n.3215-4182C>T) c.3923C>T (p.Pro1308Leu) c.1955C>T (p.Pro652Leu) c.611C>T (p.Pro204Leu) c.3970C>T c.5012C>T (p.Pro1671Leu) c.4466C>T (p.Pro1489Leu) c.4307-4182C>T (n.4307-4182C>T) n.330C>T n.253-4182C>T n.40-4182C>T c.699C>T c.4739C>T (p.Pro1580Leu) c.4034-4182C>T (n.4034-4182C>T) c.3374C>T (p.Pro1125Leu) c.5288C>T (p.Pro1763Leu) c.3488-4182C>T (n.3488-4182C>T) c.5015C>T (p.Pro1672Leu) c.4469C>T (p.Pro1490Leu) c.4580-4182C>T (n.4580-4182C>T) c.4196C>T (p.Pro1399Leu) c.3761-4182C>T (n.3761-4182C>T) c.3647C>T (p.Pro1216Leu) c.5561C>T (p.Pro1854Leu) c.5285C>T (p.Pro1762Leu) | |
| 9 | g.115046523G>C | CA374630935 | TNC | c.318-4182C>G c.3215-4182C>G (n.3215-4182C>G) c.3923C>G (p.Pro1308Arg) c.1955C>G (p.Pro652Arg) c.611C>G (p.Pro204Arg) c.3970C>G c.5012C>G (p.Pro1671Arg) c.4466C>G (p.Pro1489Arg) c.4307-4182C>G (n.4307-4182C>G) n.330C>G n.253-4182C>G n.40-4182C>G c.699C>G c.4739C>G (p.Pro1580Arg) c.4034-4182C>G (n.4034-4182C>G) c.3374C>G (p.Pro1125Arg) c.5288C>G (p.Pro1763Arg) c.3488-4182C>G (n.3488-4182C>G) c.5015C>G (p.Pro1672Arg) c.4469C>G (p.Pro1490Arg) c.4580-4182C>G (n.4580-4182C>G) c.4196C>G (p.Pro1399Arg) c.3761-4182C>G (n.3761-4182C>G) c.3647C>G (p.Pro1216Arg) c.5561C>G (p.Pro1854Arg) c.5285C>G (p.Pro1762Arg) | |
| 9 | g.115046523G>T | CA374630937 | TNC | c.318-4182C>A c.3215-4182C>A (n.3215-4182C>A) c.3923C>A (p.Pro1308His) c.1955C>A (p.Pro652His) c.611C>A (p.Pro204His) c.3970C>A c.5012C>A (p.Pro1671His) c.4466C>A (p.Pro1489His) c.4307-4182C>A (n.4307-4182C>A) n.330C>A n.253-4182C>A n.40-4182C>A c.699C>A c.4739C>A (p.Pro1580His) c.4034-4182C>A (n.4034-4182C>A) c.3374C>A (p.Pro1125His) c.5288C>A (p.Pro1763His) c.3488-4182C>A (n.3488-4182C>A) c.5015C>A (p.Pro1672His) c.4469C>A (p.Pro1490His) c.4580-4182C>A (n.4580-4182C>A) c.4196C>A (p.Pro1399His) c.3761-4182C>A (n.3761-4182C>A) c.3647C>A (p.Pro1216His) c.5561C>A (p.Pro1854His) c.5285C>A (p.Pro1762His) | |
| 9 | g.115046524G>A | CA374630938 | TNC | c.318-4183C>T c.3215-4183C>T (n.3215-4183C>T) c.3922C>T (p.Pro1308Ser) c.1954C>T (p.Pro652Ser) c.610C>T (p.Pro204Ser) c.3969C>T c.5011C>T (p.Pro1671Ser) c.4465C>T (p.Pro1489Ser) c.4307-4183C>T (n.4307-4183C>T) n.329C>T n.253-4183C>T n.40-4183C>T c.698C>T c.4738C>T (p.Pro1580Ser) c.4034-4183C>T (n.4034-4183C>T) c.3373C>T (p.Pro1125Ser) c.5287C>T (p.Pro1763Ser) c.3488-4183C>T (n.3488-4183C>T) c.5014C>T (p.Pro1672Ser) c.4468C>T (p.Pro1490Ser) c.4580-4183C>T (n.4580-4183C>T) c.4195C>T (p.Pro1399Ser) c.3761-4183C>T (n.3761-4183C>T) c.3646C>T (p.Pro1216Ser) c.5560C>T (p.Pro1854Ser) c.5284C>T (p.Pro1762Ser) | gnomAD v4 |
| 9 | g.115046524G>C | CA374630942 | TNC | c.318-4183C>G c.3215-4183C>G (n.3215-4183C>G) c.3922C>G (p.Pro1308Ala) c.1954C>G (p.Pro652Ala) c.610C>G (p.Pro204Ala) c.3969C>G c.5011C>G (p.Pro1671Ala) c.4465C>G (p.Pro1489Ala) c.4307-4183C>G (n.4307-4183C>G) n.329C>G n.253-4183C>G n.40-4183C>G c.698C>G c.4738C>G (p.Pro1580Ala) c.4034-4183C>G (n.4034-4183C>G) c.3373C>G (p.Pro1125Ala) c.5287C>G (p.Pro1763Ala) c.3488-4183C>G (n.3488-4183C>G) c.5014C>G (p.Pro1672Ala) c.4468C>G (p.Pro1490Ala) c.4580-4183C>G (n.4580-4183C>G) c.4195C>G (p.Pro1399Ala) c.3761-4183C>G (n.3761-4183C>G) c.3646C>G (p.Pro1216Ala) c.5560C>G (p.Pro1854Ala) c.5284C>G (p.Pro1762Ala) | |
| 9 | g.115046524G>T | CA374630940 | TNC | c.318-4183C>A c.3215-4183C>A (n.3215-4183C>A) c.3922C>A (p.Pro1308Thr) c.1954C>A (p.Pro652Thr) c.610C>A (p.Pro204Thr) c.3969C>A c.5011C>A (p.Pro1671Thr) c.4465C>A (p.Pro1489Thr) c.4307-4183C>A (n.4307-4183C>A) n.329C>A n.253-4183C>A n.40-4183C>A c.698C>A c.4738C>A (p.Pro1580Thr) c.4034-4183C>A (n.4034-4183C>A) c.3373C>A (p.Pro1125Thr) c.5287C>A (p.Pro1763Thr) c.3488-4183C>A (n.3488-4183C>A) c.5014C>A (p.Pro1672Thr) c.4468C>A (p.Pro1490Thr) c.4580-4183C>A (n.4580-4183C>A) c.4195C>A (p.Pro1399Thr) c.3761-4183C>A (n.3761-4183C>A) c.3646C>A (p.Pro1216Thr) c.5560C>A (p.Pro1854Thr) c.5284C>A (p.Pro1762Thr) | |
| 9 | g.115046525G>A | CA466912440 | TNC | c.318-4184C>T c.3215-4184C>T (n.3215-4184C>T) c.3921C>T (p.Ala1307=) c.1953C>T (p.Ala651=) c.609C>T (p.Ala203=) c.3968C>T c.5010C>T (p.Ala1670=) c.4464C>T (p.Ala1488=) c.4307-4184C>T (n.4307-4184C>T) n.328C>T n.253-4184C>T n.40-4184C>T c.697C>T c.4737C>T (p.Ala1579=) c.4034-4184C>T (n.4034-4184C>T) c.3372C>T (p.Ala1124=) c.5286C>T (p.Ala1762=) c.3488-4184C>T (n.3488-4184C>T) c.5013C>T (p.Ala1671=) c.4467C>T (p.Ala1489=) c.4580-4184C>T (n.4580-4184C>T) c.4194C>T (p.Ala1398=) c.3761-4184C>T (n.3761-4184C>T) c.3645C>T (p.Ala1215=) c.5559C>T (p.Ala1853=) c.5283C>T (p.Ala1761=) | gnomAD v4 |
| 9 | g.115046525G>C | CA466912441 | TNC | c.318-4184C>G c.3215-4184C>G (n.3215-4184C>G) c.3921C>G (p.Ala1307=) c.1953C>G (p.Ala651=) c.609C>G (p.Ala203=) c.3968C>G c.5010C>G (p.Ala1670=) c.4464C>G (p.Ala1488=) c.4307-4184C>G (n.4307-4184C>G) n.328C>G n.253-4184C>G n.40-4184C>G c.697C>G c.4737C>G (p.Ala1579=) c.4034-4184C>G (n.4034-4184C>G) c.3372C>G (p.Ala1124=) c.5286C>G (p.Ala1762=) c.3488-4184C>G (n.3488-4184C>G) c.5013C>G (p.Ala1671=) c.4467C>G (p.Ala1489=) c.4580-4184C>G (n.4580-4184C>G) c.4194C>G (p.Ala1398=) c.3761-4184C>G (n.3761-4184C>G) c.3645C>G (p.Ala1215=) c.5559C>G (p.Ala1853=) c.5283C>G (p.Ala1761=) | |
| 9 | g.115046525G>T | CA466912442 | TNC | c.318-4184C>A c.3215-4184C>A (n.3215-4184C>A) c.3921C>A (p.Ala1307=) c.1953C>A (p.Ala651=) c.609C>A (p.Ala203=) c.3968C>A c.5010C>A (p.Ala1670=) c.4464C>A (p.Ala1488=) c.4307-4184C>A (n.4307-4184C>A) n.328C>A n.253-4184C>A n.40-4184C>A c.697C>A c.4737C>A (p.Ala1579=) c.4034-4184C>A (n.4034-4184C>A) c.3372C>A (p.Ala1124=) c.5286C>A (p.Ala1762=) c.3488-4184C>A (n.3488-4184C>A) c.5013C>A (p.Ala1671=) c.4467C>A (p.Ala1489=) c.4580-4184C>A (n.4580-4184C>A) c.4194C>A (p.Ala1398=) c.3761-4184C>A (n.3761-4184C>A) c.3645C>A (p.Ala1215=) c.5559C>A (p.Ala1853=) c.5283C>A (p.Ala1761=) | |
| 9 | g.115046526G>A | CA374630944 | TNC | c.318-4185C>T c.3215-4185C>T (n.3215-4185C>T) c.3920C>T (p.Ala1307Val) c.1952C>T (p.Ala651Val) c.608C>T (p.Ala203Val) c.3967C>T c.5009C>T (p.Ala1670Val) c.4463C>T (p.Ala1488Val) c.4307-4185C>T (n.4307-4185C>T) n.327C>T n.253-4185C>T n.40-4185C>T c.696C>T c.4736C>T (p.Ala1579Val) c.4034-4185C>T (n.4034-4185C>T) c.3371C>T (p.Ala1124Val) c.5285C>T (p.Ala1762Val) c.3488-4185C>T (n.3488-4185C>T) c.5012C>T (p.Ala1671Val) c.4466C>T (p.Ala1489Val) c.4580-4185C>T (n.4580-4185C>T) c.4193C>T (p.Ala1398Val) c.3761-4185C>T (n.3761-4185C>T) c.3644C>T (p.Ala1215Val) c.5558C>T (p.Ala1853Val) c.5282C>T (p.Ala1761Val) | dbSNP gnomAD v4 |
| 9 | g.115046526G>C | CA374630945 | TNC | c.318-4185C>G c.3215-4185C>G (n.3215-4185C>G) c.3920C>G (p.Ala1307Gly) c.1952C>G (p.Ala651Gly) c.608C>G (p.Ala203Gly) c.3967C>G c.5009C>G (p.Ala1670Gly) c.4463C>G (p.Ala1488Gly) c.4307-4185C>G (n.4307-4185C>G) n.327C>G n.253-4185C>G n.40-4185C>G c.696C>G c.4736C>G (p.Ala1579Gly) c.4034-4185C>G (n.4034-4185C>G) c.3371C>G (p.Ala1124Gly) c.5285C>G (p.Ala1762Gly) c.3488-4185C>G (n.3488-4185C>G) c.5012C>G (p.Ala1671Gly) c.4466C>G (p.Ala1489Gly) c.4580-4185C>G (n.4580-4185C>G) c.4193C>G (p.Ala1398Gly) c.3761-4185C>G (n.3761-4185C>G) c.3644C>G (p.Ala1215Gly) c.5558C>G (p.Ala1853Gly) c.5282C>G (p.Ala1761Gly) | |
| 9 | g.115046526G= | CA1874118902 | TNC | c.318-4185C= c.3215-4185C= (n.3215-4185C=) c.3920C= (p.Ala1307=) c.1952C= (p.Ala651=) c.608C= (p.Ala203=) c.3967C= c.5009C= (p.Ala1670=) c.4463C= (p.Ala1488=) c.4307-4185C= (n.4307-4185C=) n.327C= n.253-4185C= n.40-4185C= c.696C= c.4736C= (p.Ala1579=) c.4034-4185C= (n.4034-4185C=) c.3371C= (p.Ala1124=) c.5285C= (p.Ala1762=) c.3488-4185C= (n.3488-4185C=) c.5012C= (p.Ala1671=) c.4466C= (p.Ala1489=) c.4580-4185C= (n.4580-4185C=) c.4193C= (p.Ala1398=) c.3761-4185C= (n.3761-4185C=) c.3644C= (p.Ala1215=) c.5558C= (p.Ala1853=) c.5282C= (p.Ala1761=) | |
| 9 | g.115046526G>T | CA374630946 | TNC | c.318-4185C>A c.3215-4185C>A (n.3215-4185C>A) c.3920C>A (p.Ala1307Asp) c.1952C>A (p.Ala651Asp) c.608C>A (p.Ala203Asp) c.3967C>A c.5009C>A (p.Ala1670Asp) c.4463C>A (p.Ala1488Asp) c.4307-4185C>A (n.4307-4185C>A) n.327C>A n.253-4185C>A n.40-4185C>A c.696C>A c.4736C>A (p.Ala1579Asp) c.4034-4185C>A (n.4034-4185C>A) c.3371C>A (p.Ala1124Asp) c.5285C>A (p.Ala1762Asp) c.3488-4185C>A (n.3488-4185C>A) c.5012C>A (p.Ala1671Asp) c.4466C>A (p.Ala1489Asp) c.4580-4185C>A (n.4580-4185C>A) c.4193C>A (p.Ala1398Asp) c.3761-4185C>A (n.3761-4185C>A) c.3644C>A (p.Ala1215Asp) c.5558C>A (p.Ala1853Asp) c.5282C>A (p.Ala1761Asp) | |
| 9 | g.115046527C>A | CA374630948 | TNC | c.318-4186G>T c.3215-4186G>T (n.3215-4186G>T) c.3919G>T (p.Ala1307Ser) c.1951G>T (p.Ala651Ser) c.607G>T (p.Ala203Ser) c.3966G>T c.5008G>T (p.Ala1670Ser) c.4462G>T (p.Ala1488Ser) c.4307-4186G>T (n.4307-4186G>T) n.326G>T n.253-4186G>T n.40-4186G>T c.695G>T c.4735G>T (p.Ala1579Ser) c.4034-4186G>T (n.4034-4186G>T) c.3370G>T (p.Ala1124Ser) c.5284G>T (p.Ala1762Ser) c.3488-4186G>T (n.3488-4186G>T) c.5011G>T (p.Ala1671Ser) c.4465G>T (p.Ala1489Ser) c.4580-4186G>T (n.4580-4186G>T) c.4192G>T (p.Ala1398Ser) c.3761-4186G>T (n.3761-4186G>T) c.3643G>T (p.Ala1215Ser) c.5557G>T (p.Ala1853Ser) c.5281G>T (p.Ala1761Ser) | |
| 9 | g.115046527C= | CA1874118903 | TNC | c.318-4186G= c.3215-4186G= (n.3215-4186G=) c.3919G= (p.Ala1307=) c.1951G= (p.Ala651=) c.607G= (p.Ala203=) c.3966G= c.5008G= (p.Ala1670=) c.4462G= (p.Ala1488=) c.4307-4186G= (n.4307-4186G=) n.326G= n.253-4186G= n.40-4186G= c.695G= c.4735G= (p.Ala1579=) c.4034-4186G= (n.4034-4186G=) c.3370G= (p.Ala1124=) c.5284G= (p.Ala1762=) c.3488-4186G= (n.3488-4186G=) c.5011G= (p.Ala1671=) c.4465G= (p.Ala1489=) c.4580-4186G= (n.4580-4186G=) c.4192G= (p.Ala1398=) c.3761-4186G= (n.3761-4186G=) c.3643G= (p.Ala1215=) c.5557G= (p.Ala1853=) c.5281G= (p.Ala1761=) | |
| 9 | g.115046527C>G | CA374630950 | TNC | c.318-4186G>C c.3215-4186G>C (n.3215-4186G>C) c.3919G>C (p.Ala1307Pro) c.1951G>C (p.Ala651Pro) c.607G>C (p.Ala203Pro) c.3966G>C c.5008G>C (p.Ala1670Pro) c.4462G>C (p.Ala1488Pro) c.4307-4186G>C (n.4307-4186G>C) n.326G>C n.253-4186G>C n.40-4186G>C c.695G>C c.4735G>C (p.Ala1579Pro) c.4034-4186G>C (n.4034-4186G>C) c.3370G>C (p.Ala1124Pro) c.5284G>C (p.Ala1762Pro) c.3488-4186G>C (n.3488-4186G>C) c.5011G>C (p.Ala1671Pro) c.4465G>C (p.Ala1489Pro) c.4580-4186G>C (n.4580-4186G>C) c.4192G>C (p.Ala1398Pro) c.3761-4186G>C (n.3761-4186G>C) c.3643G>C (p.Ala1215Pro) c.5557G>C (p.Ala1853Pro) c.5281G>C (p.Ala1761Pro) | |
| 9 | g.115046527C>T | CA5207773 | TNC | c.318-4186G>A c.3215-4186G>A (n.3215-4186G>A) c.3919G>A (p.Ala1307Thr) c.1951G>A (p.Ala651Thr) c.607G>A (p.Ala203Thr) c.3966G>A c.5008G>A (p.Ala1670Thr) c.4462G>A (p.Ala1488Thr) c.4307-4186G>A (n.4307-4186G>A) n.326G>A n.253-4186G>A n.40-4186G>A c.695G>A c.4735G>A (p.Ala1579Thr) c.4034-4186G>A (n.4034-4186G>A) c.3370G>A (p.Ala1124Thr) c.5284G>A (p.Ala1762Thr) c.3488-4186G>A (n.3488-4186G>A) c.5011G>A (p.Ala1671Thr) c.4465G>A (p.Ala1489Thr) c.4580-4186G>A (n.4580-4186G>A) c.4192G>A (p.Ala1398Thr) c.3761-4186G>A (n.3761-4186G>A) c.3643G>A (p.Ala1215Thr) c.5557G>A (p.Ala1853Thr) c.5281G>A (p.Ala1761Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.115046528A>C | CA466912444 | TNC | c.318-4187T>G c.3215-4187T>G (n.3215-4187T>G) c.3918T>G (p.Leu1306=) c.1950T>G (p.Leu650=) c.606T>G (p.Leu202=) c.3965T>G c.5007T>G (p.Leu1669=) c.4461T>G (p.Leu1487=) c.4307-4187T>G (n.4307-4187T>G) n.325T>G n.253-4187T>G n.40-4187T>G c.694T>G c.4734T>G (p.Leu1578=) c.4034-4187T>G (n.4034-4187T>G) c.3369T>G (p.Leu1123=) c.5283T>G (p.Leu1761=) c.3488-4187T>G (n.3488-4187T>G) c.5010T>G (p.Leu1670=) c.4464T>G (p.Leu1488=) c.4580-4187T>G (n.4580-4187T>G) c.4191T>G (p.Leu1397=) c.3761-4187T>G (n.3761-4187T>G) c.3642T>G (p.Leu1214=) c.5556T>G (p.Leu1852=) c.5280T>G (p.Leu1760=) | |
| 9 | g.115046528A>G | CA466912445 | TNC | c.318-4187T>C c.3215-4187T>C (n.3215-4187T>C) c.3918T>C (p.Leu1306=) c.1950T>C (p.Leu650=) c.606T>C (p.Leu202=) c.3965T>C c.5007T>C (p.Leu1669=) c.4461T>C (p.Leu1487=) c.4307-4187T>C (n.4307-4187T>C) n.325T>C n.253-4187T>C n.40-4187T>C c.694T>C c.4734T>C (p.Leu1578=) c.4034-4187T>C (n.4034-4187T>C) c.3369T>C (p.Leu1123=) c.5283T>C (p.Leu1761=) c.3488-4187T>C (n.3488-4187T>C) c.5010T>C (p.Leu1670=) c.4464T>C (p.Leu1488=) c.4580-4187T>C (n.4580-4187T>C) c.4191T>C (p.Leu1397=) c.3761-4187T>C (n.3761-4187T>C) c.3642T>C (p.Leu1214=) c.5556T>C (p.Leu1852=) c.5280T>C (p.Leu1760=) | |
| 9 | g.115046528A>T | CA466912446 | TNC | c.318-4187T>A c.3215-4187T>A (n.3215-4187T>A) c.3918T>A (p.Leu1306=) c.1950T>A (p.Leu650=) c.606T>A (p.Leu202=) c.3965T>A c.5007T>A (p.Leu1669=) c.4461T>A (p.Leu1487=) c.4307-4187T>A (n.4307-4187T>A) n.325T>A n.253-4187T>A n.40-4187T>A c.694T>A c.4734T>A (p.Leu1578=) c.4034-4187T>A (n.4034-4187T>A) c.3369T>A (p.Leu1123=) c.5283T>A (p.Leu1761=) c.3488-4187T>A (n.3488-4187T>A) c.5010T>A (p.Leu1670=) c.4464T>A (p.Leu1488=) c.4580-4187T>A (n.4580-4187T>A) c.4191T>A (p.Leu1397=) c.3761-4187T>A (n.3761-4187T>A) c.3642T>A (p.Leu1214=) c.5556T>A (p.Leu1852=) c.5280T>A (p.Leu1760=) | |
| 9 | g.115046529A>C | CA374630952 | TNC | c.318-4188T>G c.3215-4188T>G (n.3215-4188T>G) c.3917T>G (p.Leu1306Arg) c.1949T>G (p.Leu650Arg) c.605T>G (p.Leu202Arg) c.3964T>G c.5006T>G (p.Leu1669Arg) c.4460T>G (p.Leu1487Arg) c.4307-4188T>G (n.4307-4188T>G) n.324T>G n.253-4188T>G n.40-4188T>G c.693T>G c.4733T>G (p.Leu1578Arg) c.4034-4188T>G (n.4034-4188T>G) c.3368T>G (p.Leu1123Arg) c.5282T>G (p.Leu1761Arg) c.3488-4188T>G (n.3488-4188T>G) c.5009T>G (p.Leu1670Arg) c.4463T>G (p.Leu1488Arg) c.4580-4188T>G (n.4580-4188T>G) c.4190T>G (p.Leu1397Arg) c.3761-4188T>G (n.3761-4188T>G) c.3641T>G (p.Leu1214Arg) c.5555T>G (p.Leu1852Arg) c.5279T>G (p.Leu1760Arg) | |
| 9 | g.115046529A>G | CA374630954 | TNC | c.318-4188T>C c.3215-4188T>C (n.3215-4188T>C) c.3917T>C (p.Leu1306Pro) c.1949T>C (p.Leu650Pro) c.605T>C (p.Leu202Pro) c.3964T>C c.5006T>C (p.Leu1669Pro) c.4460T>C (p.Leu1487Pro) c.4307-4188T>C (n.4307-4188T>C) n.324T>C n.253-4188T>C n.40-4188T>C c.693T>C c.4733T>C (p.Leu1578Pro) c.4034-4188T>C (n.4034-4188T>C) c.3368T>C (p.Leu1123Pro) c.5282T>C (p.Leu1761Pro) c.3488-4188T>C (n.3488-4188T>C) c.5009T>C (p.Leu1670Pro) c.4463T>C (p.Leu1488Pro) c.4580-4188T>C (n.4580-4188T>C) c.4190T>C (p.Leu1397Pro) c.3761-4188T>C (n.3761-4188T>C) c.3641T>C (p.Leu1214Pro) c.5555T>C (p.Leu1852Pro) c.5279T>C (p.Leu1760Pro) | |
| 9 | g.115046529A>T | CA374630955 | TNC | c.318-4188T>A c.3215-4188T>A (n.3215-4188T>A) c.3917T>A (p.Leu1306His) c.1949T>A (p.Leu650His) c.605T>A (p.Leu202His) c.3964T>A c.5006T>A (p.Leu1669His) c.4460T>A (p.Leu1487His) c.4307-4188T>A (n.4307-4188T>A) n.324T>A n.253-4188T>A n.40-4188T>A c.693T>A c.4733T>A (p.Leu1578His) c.4034-4188T>A (n.4034-4188T>A) c.3368T>A (p.Leu1123His) c.5282T>A (p.Leu1761His) c.3488-4188T>A (n.3488-4188T>A) c.5009T>A (p.Leu1670His) c.4463T>A (p.Leu1488His) c.4580-4188T>A (n.4580-4188T>A) c.4190T>A (p.Leu1397His) c.3761-4188T>A (n.3761-4188T>A) c.3641T>A (p.Leu1214His) c.5555T>A (p.Leu1852His) c.5279T>A (p.Leu1760His) | |
| 9 | g.115046530G>A | CA374630957 | TNC | c.318-4189C>T c.3215-4189C>T (n.3215-4189C>T) c.3916C>T (p.Leu1306Phe) c.1948C>T (p.Leu650Phe) c.604C>T (p.Leu202Phe) c.3963C>T c.5005C>T (p.Leu1669Phe) c.4459C>T (p.Leu1487Phe) c.4307-4189C>T (n.4307-4189C>T) n.323C>T n.253-4189C>T n.40-4189C>T c.692C>T c.4732C>T (p.Leu1578Phe) c.4034-4189C>T (n.4034-4189C>T) c.3367C>T (p.Leu1123Phe) c.5281C>T (p.Leu1761Phe) c.3488-4189C>T (n.3488-4189C>T) c.5008C>T (p.Leu1670Phe) c.4462C>T (p.Leu1488Phe) c.4580-4189C>T (n.4580-4189C>T) c.4189C>T (p.Leu1397Phe) c.3761-4189C>T (n.3761-4189C>T) c.3640C>T (p.Leu1214Phe) c.5554C>T (p.Leu1852Phe) c.5278C>T (p.Leu1760Phe) | |
| 9 | g.115046530G>C | CA374630959 | TNC | c.318-4189C>G c.3215-4189C>G (n.3215-4189C>G) c.3916C>G (p.Leu1306Val) c.1948C>G (p.Leu650Val) c.604C>G (p.Leu202Val) c.3963C>G c.5005C>G (p.Leu1669Val) c.4459C>G (p.Leu1487Val) c.4307-4189C>G (n.4307-4189C>G) n.323C>G n.253-4189C>G n.40-4189C>G c.692C>G c.4732C>G (p.Leu1578Val) c.4034-4189C>G (n.4034-4189C>G) c.3367C>G (p.Leu1123Val) c.5281C>G (p.Leu1761Val) c.3488-4189C>G (n.3488-4189C>G) c.5008C>G (p.Leu1670Val) c.4462C>G (p.Leu1488Val) c.4580-4189C>G (n.4580-4189C>G) c.4189C>G (p.Leu1397Val) c.3761-4189C>G (n.3761-4189C>G) c.3640C>G (p.Leu1214Val) c.5554C>G (p.Leu1852Val) c.5278C>G (p.Leu1760Val) | |
| 9 | g.115046530G>T | CA374630960 | TNC | c.318-4189C>A c.3215-4189C>A (n.3215-4189C>A) c.3916C>A (p.Leu1306Ile) c.1948C>A (p.Leu650Ile) c.604C>A (p.Leu202Ile) c.3963C>A c.5005C>A (p.Leu1669Ile) c.4459C>A (p.Leu1487Ile) c.4307-4189C>A (n.4307-4189C>A) n.323C>A n.253-4189C>A n.40-4189C>A c.692C>A c.4732C>A (p.Leu1578Ile) c.4034-4189C>A (n.4034-4189C>A) c.3367C>A (p.Leu1123Ile) c.5281C>A (p.Leu1761Ile) c.3488-4189C>A (n.3488-4189C>A) c.5008C>A (p.Leu1670Ile) c.4462C>A (p.Leu1488Ile) c.4580-4189C>A (n.4580-4189C>A) c.4189C>A (p.Leu1397Ile) c.3761-4189C>A (n.3761-4189C>A) c.3640C>A (p.Leu1214Ile) c.5554C>A (p.Leu1852Ile) c.5278C>A (p.Leu1760Ile) | |
| 9 | g.115046531T>A | CA466912448 | TNC | c.318-4190A>T c.3215-4190A>T (n.3215-4190A>T) c.3915A>T (p.Leu1305=) c.1947A>T (p.Leu649=) c.603A>T (p.Leu201=) c.3962A>T c.5004A>T (p.Leu1668=) c.4458A>T (p.Leu1486=) c.4307-4190A>T (n.4307-4190A>T) n.322A>T n.253-4190A>T n.40-4190A>T c.691A>T c.4731A>T (p.Leu1577=) c.4034-4190A>T (n.4034-4190A>T) c.3366A>T (p.Leu1122=) c.5280A>T (p.Leu1760=) c.3488-4190A>T (n.3488-4190A>T) c.5007A>T (p.Leu1669=) c.4461A>T (p.Leu1487=) c.4580-4190A>T (n.4580-4190A>T) c.4188A>T (p.Leu1396=) c.3761-4190A>T (n.3761-4190A>T) c.3639A>T (p.Leu1213=) c.5553A>T (p.Leu1851=) c.5277A>T (p.Leu1759=) | |
| 9 | g.115046531T>C | CA466912451 | TNC | c.318-4190A>G c.3215-4190A>G (n.3215-4190A>G) c.3915A>G (p.Leu1305=) c.1947A>G (p.Leu649=) c.603A>G (p.Leu201=) c.3962A>G c.5004A>G (p.Leu1668=) c.4458A>G (p.Leu1486=) c.4307-4190A>G (n.4307-4190A>G) n.322A>G n.253-4190A>G n.40-4190A>G c.691A>G c.4731A>G (p.Leu1577=) c.4034-4190A>G (n.4034-4190A>G) c.3366A>G (p.Leu1122=) c.5280A>G (p.Leu1760=) c.3488-4190A>G (n.3488-4190A>G) c.5007A>G (p.Leu1669=) c.4461A>G (p.Leu1487=) c.4580-4190A>G (n.4580-4190A>G) c.4188A>G (p.Leu1396=) c.3761-4190A>G (n.3761-4190A>G) c.3639A>G (p.Leu1213=) c.5553A>G (p.Leu1851=) c.5277A>G (p.Leu1759=) | |
| 9 | g.115046531T>G | CA466912452 | TNC | c.318-4190A>C c.3215-4190A>C (n.3215-4190A>C) c.3915A>C (p.Leu1305=) c.1947A>C (p.Leu649=) c.603A>C (p.Leu201=) c.3962A>C c.5004A>C (p.Leu1668=) c.4458A>C (p.Leu1486=) c.4307-4190A>C (n.4307-4190A>C) n.322A>C n.253-4190A>C n.40-4190A>C c.691A>C c.4731A>C (p.Leu1577=) c.4034-4190A>C (n.4034-4190A>C) c.3366A>C (p.Leu1122=) c.5280A>C (p.Leu1760=) c.3488-4190A>C (n.3488-4190A>C) c.5007A>C (p.Leu1669=) c.4461A>C (p.Leu1487=) c.4580-4190A>C (n.4580-4190A>C) c.4188A>C (p.Leu1396=) c.3761-4190A>C (n.3761-4190A>C) c.3639A>C (p.Leu1213=) c.5553A>C (p.Leu1851=) c.5277A>C (p.Leu1759=) | |
| 9 | g.115046532A>C | CA374630962 | TNC | c.318-4191T>G c.3215-4191T>G (n.3215-4191T>G) c.3914T>G (p.Leu1305Arg) c.1946T>G (p.Leu649Arg) c.602T>G (p.Leu201Arg) c.3961T>G c.5003T>G (p.Leu1668Arg) c.4457T>G (p.Leu1486Arg) c.4307-4191T>G (n.4307-4191T>G) n.321T>G n.253-4191T>G n.40-4191T>G c.690T>G c.4730T>G (p.Leu1577Arg) c.4034-4191T>G (n.4034-4191T>G) c.3365T>G (p.Leu1122Arg) c.5279T>G (p.Leu1760Arg) c.3488-4191T>G (n.3488-4191T>G) c.5006T>G (p.Leu1669Arg) c.4460T>G (p.Leu1487Arg) c.4580-4191T>G (n.4580-4191T>G) c.4187T>G (p.Leu1396Arg) c.3761-4191T>G (n.3761-4191T>G) c.3638T>G (p.Leu1213Arg) c.5552T>G (p.Leu1851Arg) c.5276T>G (p.Leu1759Arg) | |
| 9 | g.115046532A>G | CA374630965 | TNC | c.318-4191T>C c.3215-4191T>C (n.3215-4191T>C) c.3914T>C (p.Leu1305Pro) c.1946T>C (p.Leu649Pro) c.602T>C (p.Leu201Pro) c.3961T>C c.5003T>C (p.Leu1668Pro) c.4457T>C (p.Leu1486Pro) c.4307-4191T>C (n.4307-4191T>C) n.321T>C n.253-4191T>C n.40-4191T>C c.690T>C c.4730T>C (p.Leu1577Pro) c.4034-4191T>C (n.4034-4191T>C) c.3365T>C (p.Leu1122Pro) c.5279T>C (p.Leu1760Pro) c.3488-4191T>C (n.3488-4191T>C) c.5006T>C (p.Leu1669Pro) c.4460T>C (p.Leu1487Pro) c.4580-4191T>C (n.4580-4191T>C) c.4187T>C (p.Leu1396Pro) c.3761-4191T>C (n.3761-4191T>C) c.3638T>C (p.Leu1213Pro) c.5552T>C (p.Leu1851Pro) c.5276T>C (p.Leu1759Pro) | |
| 9 | g.115046532A>T | CA374630964 | TNC | c.318-4191T>A c.3215-4191T>A (n.3215-4191T>A) c.3914T>A (p.Leu1305Gln) c.1946T>A (p.Leu649Gln) c.602T>A (p.Leu201Gln) c.3961T>A c.5003T>A (p.Leu1668Gln) c.4457T>A (p.Leu1486Gln) c.4307-4191T>A (n.4307-4191T>A) n.321T>A n.253-4191T>A n.40-4191T>A c.690T>A c.4730T>A (p.Leu1577Gln) c.4034-4191T>A (n.4034-4191T>A) c.3365T>A (p.Leu1122Gln) c.5279T>A (p.Leu1760Gln) c.3488-4191T>A (n.3488-4191T>A) c.5006T>A (p.Leu1669Gln) c.4460T>A (p.Leu1487Gln) c.4580-4191T>A (n.4580-4191T>A) c.4187T>A (p.Leu1396Gln) c.3761-4191T>A (n.3761-4191T>A) c.3638T>A (p.Leu1213Gln) c.5552T>A (p.Leu1851Gln) c.5276T>A (p.Leu1759Gln) | |
| 9 | g.115046533G>A | CA466912453 | TNC | c.318-4192C>T c.3215-4192C>T (n.3215-4192C>T) c.3913C>T (p.Leu1305=) c.1945C>T (p.Leu649=) c.601C>T (p.Leu201=) c.3960C>T c.5002C>T (p.Leu1668=) c.4456C>T (p.Leu1486=) c.4307-4192C>T (n.4307-4192C>T) n.320C>T n.253-4192C>T n.40-4192C>T c.689C>T c.4729C>T (p.Leu1577=) c.4034-4192C>T (n.4034-4192C>T) c.3364C>T (p.Leu1122=) c.5278C>T (p.Leu1760=) c.3488-4192C>T (n.3488-4192C>T) c.5005C>T (p.Leu1669=) c.4459C>T (p.Leu1487=) c.4580-4192C>T (n.4580-4192C>T) c.4186C>T (p.Leu1396=) c.3761-4192C>T (n.3761-4192C>T) c.3637C>T (p.Leu1213=) c.5551C>T (p.Leu1851=) c.5275C>T (p.Leu1759=) | |
| 9 | g.115046533G>C | CA374630967 | TNC | c.318-4192C>G c.3215-4192C>G (n.3215-4192C>G) c.3913C>G (p.Leu1305Val) c.1945C>G (p.Leu649Val) c.601C>G (p.Leu201Val) c.3960C>G c.5002C>G (p.Leu1668Val) c.4456C>G (p.Leu1486Val) c.4307-4192C>G (n.4307-4192C>G) n.320C>G n.253-4192C>G n.40-4192C>G c.689C>G c.4729C>G (p.Leu1577Val) c.4034-4192C>G (n.4034-4192C>G) c.3364C>G (p.Leu1122Val) c.5278C>G (p.Leu1760Val) c.3488-4192C>G (n.3488-4192C>G) c.5005C>G (p.Leu1669Val) c.4459C>G (p.Leu1487Val) c.4580-4192C>G (n.4580-4192C>G) c.4186C>G (p.Leu1396Val) c.3761-4192C>G (n.3761-4192C>G) c.3637C>G (p.Leu1213Val) c.5551C>G (p.Leu1851Val) c.5275C>G (p.Leu1759Val) | gnomAD v4 |