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 |
|---|---|---|---|---|---|
| 2 | g.237381217_237381941delinsGTTGC | CA2580066112 | COL6A3 | c.695-442_977delinsGCAAC c.1313-442_1595delinsGCAAC c.92-442_374delinsGCAAC c.92-4597_92-3873delinsGCAAC (n.92-4597_92-3873delinsGCAAC) | ClinVar |
| 2 | g.237381332T>A | CA351217959 | COL6A3 | c.862A>T (p.Arg288Trp) n.253A>T c.1480A>T (p.Arg494Trp) c.259A>T (p.Arg87Trp) c.92-3988A>T (n.92-3988A>T) | |
| 2 | g.237381332T>C | CA351217964 | COL6A3 | c.862A>G (p.Arg288Gly) n.253A>G c.1480A>G (p.Arg494Gly) c.259A>G (p.Arg87Gly) c.92-3988A>G (n.92-3988A>G) | |
| 2 | g.237381332T>G | CA431712804 | COL6A3 | c.862A>C (p.Arg288=) n.253A>C c.1480A>C (p.Arg494=) c.259A>C (p.Arg87=) c.92-3988A>C (n.92-3988A>C) | |
| 2 | g.237381333C>A | CA431712807 | COL6A3 | c.861G>T (p.Val287=) n.252G>T c.1479G>T (p.Val493=) c.258G>T (p.Val86=) c.92-3989G>T (n.92-3989G>T) | |
| 2 | g.237381333C= | CA1337627356 | COL6A3 | c.861G= (p.Val287=) n.252G= c.1479G= (p.Val493=) c.258G= (p.Val86=) c.92-3989G= (n.92-3989G=) | |
| 2 | g.237381333C>G | CA431712808 | COL6A3 | c.861G>C (p.Val287=) n.252G>C c.1479G>C (p.Val493=) c.258G>C (p.Val86=) c.92-3989G>C (n.92-3989G>C) | |
| 2 | g.237381333C>T | CA2189619 | COL6A3 | c.861G>A (p.Val287=) n.252G>A c.1479G>A (p.Val493=) c.258G>A (p.Val86=) c.92-3989G>A (n.92-3989G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237381334A= | CA1337627357 | COL6A3 | c.860T= (p.Val287=) n.251T= c.1478T= (p.Val493=) c.257T= (p.Val86=) c.92-3990T= (n.92-3990T=) | |
| 2 | g.237381334A>C | CA351217968 | COL6A3 | c.860T>G (p.Val287Gly) n.251T>G c.1478T>G (p.Val493Gly) c.257T>G (p.Val86Gly) c.92-3990T>G (n.92-3990T>G) | |
| 2 | g.237381334A>G | CA203065 | COL6A3 | c.860T>C (p.Val287Ala) n.251T>C c.1478T>C (p.Val493Ala) c.257T>C (p.Val86Ala) c.92-3990T>C (n.92-3990T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237381334A>T | CA351217971 | COL6A3 | c.860T>A (p.Val287Glu) n.251T>A c.1478T>A (p.Val493Glu) c.257T>A (p.Val86Glu) c.92-3990T>A (n.92-3990T>A) | |
| 2 | g.237381335C>A | CA351217975 | COL6A3 | c.859G>T (p.Val287Leu) n.250G>T c.1477G>T (p.Val493Leu) c.256G>T (p.Val86Leu) c.92-3991G>T (n.92-3991G>T) | |
| 2 | g.237381335C>G | CA351217976 | COL6A3 | c.859G>C (p.Val287Leu) n.250G>C c.1477G>C (p.Val493Leu) c.256G>C (p.Val86Leu) c.92-3991G>C (n.92-3991G>C) | gnomAD v4 |
| 2 | g.237381335C>T | CA351217978 | COL6A3 | c.859G>A (p.Val287Met) n.250G>A c.1477G>A (p.Val493Met) c.256G>A (p.Val86Met) c.92-3991G>A (n.92-3991G>A) | |
| 2 | g.237381335_237381336delinsTG | CA2580066115 | COL6A3 | c.858_859delinsCA (p.Val287Met) n.249_250delinsCA c.1476_1477delinsCA (p.Val493Met) c.255_256delinsCA (p.Val86Met) c.92-3992_92-3991delinsCA (n.92-3992_92-3991delinsCA) | ClinVar |
| 2 | g.237381336A= | CA1337627358 | COL6A3 | c.858T= (p.Thr286=) n.249T= c.1476T= (p.Thr492=) c.255T= (p.Thr85=) c.92-3992T= (n.92-3992T=) | |
| 2 | g.237381336A>C | CA431712814 | COL6A3 | c.858T>G (p.Thr286=) n.249T>G c.1476T>G (p.Thr492=) c.255T>G (p.Thr85=) c.92-3992T>G (n.92-3992T>G) | |
| 2 | g.237381336A>G | CA2189620 | COL6A3 | c.858T>C (p.Thr286=) n.249T>C c.1476T>C (p.Thr492=) c.255T>C (p.Thr85=) c.92-3992T>C (n.92-3992T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237381336A>T | CA431712816 | COL6A3 | c.858T>A (p.Thr286=) n.249T>A c.1476T>A (p.Thr492=) c.255T>A (p.Thr85=) c.92-3992T>A (n.92-3992T>A) | |
| 2 | g.237381337G>A | CA351217980 | COL6A3 | c.857C>T (p.Thr286Ile) n.248C>T c.1475C>T (p.Thr492Ile) c.254C>T (p.Thr85Ile) c.92-3993C>T (n.92-3993C>T) | |
| 2 | g.237381337G>C | CA147916 | COL6A3 | c.857C>G (p.Thr286Ser) n.248C>G c.1475C>G (p.Thr492Ser) c.254C>G (p.Thr85Ser) c.92-3993C>G (n.92-3993C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237381337G= | CA1337627359 | COL6A3 | c.857C= (p.Thr286=) n.248C= c.1475C= (p.Thr492=) c.254C= (p.Thr85=) c.92-3993C= (n.92-3993C=) | |
| 2 | g.237381337G>T | CA351217982 | COL6A3 | c.857C>A (p.Thr286Asn) n.248C>A c.1475C>A (p.Thr492Asn) c.254C>A (p.Thr85Asn) c.92-3993C>A (n.92-3993C>A) | |
| 2 | g.237381337_237381341delinsCTGTG | CA16617505 | COL6A3 | c.853_857delinsCACAG (p.Asp285_Thr286delinsHisSer) n.244_248delinsCACAG c.1471_1475delinsCACAG (p.Asp491_Thr492delinsHisSer) c.250_254delinsCACAG (p.Asp84_Thr85delinsHisSer) c.92-3997_92-3993delinsCACAG (n.92-3997_92-3993delinsCACAG) | ClinVar dbSNP |
| 2 | g.237381337_237381341delinsGTGTC | CA1337627360 | COL6A3 | c.853_857delinsGACAC (p.Asp285=) n.244_248delinsGACAC c.1471_1475delinsGACAC (p.Asp491=) c.250_254delinsGACAC (p.Asp84=) c.92-3997_92-3993delinsGACAC (n.92-3997_92-3993delinsGACAC) | |
| 2 | g.237381338T>A | CA351217988 | COL6A3 | c.856A>T (p.Thr286Ser) n.247A>T c.1474A>T (p.Thr492Ser) c.253A>T (p.Thr85Ser) c.92-3994A>T (n.92-3994A>T) | |
| 2 | g.237381338T>C | CA351217984 | COL6A3 | c.856A>G (p.Thr286Ala) n.247A>G c.1474A>G (p.Thr492Ala) c.253A>G (p.Thr85Ala) c.92-3994A>G (n.92-3994A>G) | |
| 2 | g.237381338T>G | CA351217986 | COL6A3 | c.856A>C (p.Thr286Pro) n.247A>C c.1474A>C (p.Thr492Pro) c.253A>C (p.Thr85Pro) c.92-3994A>C (n.92-3994A>C) | gnomAD v4 |
| 2 | g.237381340_237381350del | CA2663799274 | COL6A3 | c.846_856del (p.Gln282HisfsTer5) n.237_247del c.1464_1474del (p.Gln488HisfsTer5) c.243_253del (p.Gln81HisfsTer5) c.92-4004_92-3994del (n.92-4004_92-3994del) | gnomAD v4 |
| 2 | g.237381339G>A | CA2189621 | COL6A3 | c.855C>T (p.Asp285=) n.246C>T c.1473C>T (p.Asp491=) c.252C>T (p.Asp84=) c.92-3995C>T (n.92-3995C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237381339G>C | CA351217990 | COL6A3 | c.855C>G (p.Asp285Glu) n.246C>G c.1473C>G (p.Asp491Glu) c.252C>G (p.Asp84Glu) c.92-3995C>G (n.92-3995C>G) | |
| 2 | g.237381339G= | CA1337627361 | COL6A3 | c.855C= (p.Asp285=) n.246C= c.1473C= (p.Asp491=) c.252C= (p.Asp84=) c.92-3995C= (n.92-3995C=) | |
| 2 | g.237381339G>T | CA351217992 | COL6A3 | c.855C>A (p.Asp285Glu) n.246C>A c.1473C>A (p.Asp491Glu) c.252C>A (p.Asp84Glu) c.92-3995C>A (n.92-3995C>A) | |
| 2 | g.237381340T>A | CA351217994 | COL6A3 | c.854A>T (p.Asp285Val) n.245A>T c.1472A>T (p.Asp491Val) c.251A>T (p.Asp84Val) c.92-3996A>T (n.92-3996A>T) | ClinVar dbSNP |
| 2 | g.237381340T>C | CA351217996 | COL6A3 | c.854A>G (p.Asp285Gly) n.245A>G c.1472A>G (p.Asp491Gly) c.251A>G (p.Asp84Gly) c.92-3996A>G (n.92-3996A>G) | |
| 2 | g.237381340T>G | CA351217998 | COL6A3 | c.854A>C (p.Asp285Ala) n.245A>C c.1472A>C (p.Asp491Ala) c.251A>C (p.Asp84Ala) c.92-3996A>C (n.92-3996A>C) | |
| 2 | g.237381341C>A | CA351217999 | COL6A3 | c.853G>T (p.Asp285Tyr) n.244G>T c.1471G>T (p.Asp491Tyr) c.250G>T (p.Asp84Tyr) c.92-3997G>T (n.92-3997G>T) | |
| 2 | g.237381341C= | CA1337627362 | COL6A3 | c.853G= (p.Asp285=) n.244G= c.1471G= (p.Asp491=) c.250G= (p.Asp84=) c.92-3997G= (n.92-3997G=) | |
| 2 | g.237381341C>G | CA147913 | COL6A3 | c.853G>C (p.Asp285His) n.244G>C c.1471G>C (p.Asp491His) c.250G>C (p.Asp84His) c.92-3997G>C (n.92-3997G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237381341C>T | CA351218002 | COL6A3 | c.853G>A (p.Asp285Asn) n.244G>A c.1471G>A (p.Asp491Asn) c.250G>A (p.Asp84Asn) c.92-3997G>A (n.92-3997G>A) | |
| 2 | g.237381342T>A | CA431712829 | COL6A3 | c.852A>T (p.Ala284=) n.243A>T c.1470A>T (p.Ala490=) c.249A>T (p.Ala83=) c.92-3998A>T (n.92-3998A>T) | |
| 2 | g.237381342T>C | CA431712830 | COL6A3 | c.852A>G (p.Ala284=) n.243A>G c.1470A>G (p.Ala490=) c.249A>G (p.Ala83=) c.92-3998A>G (n.92-3998A>G) | |
| 2 | g.237381342T>G | CA431712831 | COL6A3 | c.852A>C (p.Ala284=) n.243A>C c.1470A>C (p.Ala490=) c.249A>C (p.Ala83=) c.92-3998A>C (n.92-3998A>C) | |
| 2 | g.237381343G>A | CA351218005 | COL6A3 | c.851C>T (p.Ala284Val) n.242C>T c.1469C>T (p.Ala490Val) c.248C>T (p.Ala83Val) c.92-3999C>T (n.92-3999C>T) | gnomAD v4 |
| 2 | g.237381343G>C | CA351218006 | COL6A3 | c.851C>G (p.Ala284Gly) n.242C>G c.1469C>G (p.Ala490Gly) c.248C>G (p.Ala83Gly) c.92-3999C>G (n.92-3999C>G) | |
| 2 | g.237381343G= | CA1337627363 | COL6A3 | c.851C= (p.Ala284=) n.242C= c.1469C= (p.Ala490=) c.248C= (p.Ala83=) c.92-3999C= (n.92-3999C=) | |
| 2 | g.237381343G>T | CA2189622 | COL6A3 | c.851C>A (p.Ala284Glu) n.242C>A c.1469C>A (p.Ala490Glu) c.248C>A (p.Ala83Glu) c.92-3999C>A (n.92-3999C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237381344C>A | CA351218011 | COL6A3 | c.850G>T (p.Ala284Ser) n.241G>T c.1468G>T (p.Ala490Ser) c.247G>T (p.Ala83Ser) c.92-4000G>T (n.92-4000G>T) | |
| 2 | g.237381344C>G | CA351218012 | COL6A3 | c.850G>C (p.Ala284Pro) n.241G>C c.1468G>C (p.Ala490Pro) c.247G>C (p.Ala83Pro) c.92-4000G>C (n.92-4000G>C) |