| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50627016_50627023delinsTGGCCGGC | CA2410959363 | ARSA | c.495_502delinsGCCGGCCA (p.Pro165=) c.237_244delinsGCCGGCCA (p.Pro79=) n.999_1006delinsGCCGGCCA | |
| 22 | g.50627017G>A | CA515391502 | ARSA | c.501C>T (p.Ala167=) c.243C>T (p.Ala81=) n.1005C>T | ClinVar |
| 22 | g.50627017G>C | CA515391501 | ARSA | c.501C>G (p.Ala167=) c.243C>G (p.Ala81=) n.1005C>G | |
| 22 | g.50627017G>T | CA515391498 | ARSA | c.501C>A (p.Ala167=) c.243C>A (p.Ala81=) n.1005C>A | gnomAD v4 |
| 22 | g.50627019_50627025del | CA16042041 | ARSA | c.495_501del (p.Pro166LeufsTer?) c.237_243del (p.Pro80LeufsTer?) n.999_1005del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627018G>A | CA10324991 | ARSA | c.500C>T (p.Ala167Val) c.242C>T (p.Ala81Val) n.1004C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627018G>C | CA412177863 | ARSA | c.500C>G (p.Ala167Gly) c.242C>G (p.Ala81Gly) n.1004C>G | |
| 22 | g.50627018G= | CA2410959364 | ARSA | c.500C= (p.Ala167=) c.242C= (p.Ala81=) n.1004C= | |
| 22 | g.50627018G>T | CA412177867 | ARSA | c.500C>A (p.Ala167Asp) c.242C>A (p.Ala81Asp) n.1004C>A | |
| 22 | g.50627019C>A | CA10324992 | ARSA | c.499G>T (p.Ala167Ser) c.241G>T (p.Ala81Ser) n.1003G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627019C= | CA2410959365 | ARSA | c.499G= (p.Ala167=) c.241G= (p.Ala81=) n.1003G= | |
| 22 | g.50627019C>G | CA412177873 | ARSA | c.499G>C (p.Ala167Pro) c.241G>C (p.Ala81Pro) n.1003G>C | |
| 22 | g.50627019C>T | CA412177879 | ARSA | c.499G>A (p.Ala167Thr) c.241G>A (p.Ala81Thr) n.1003G>A | gnomAD v4 |
| 22 | g.50627020C>A | CA515391506 | ARSA | c.498G>T (p.Pro166=) c.240G>T (p.Pro80=) n.1002G>T | dbSNP gnomAD v4 |
| 22 | g.50627020C= | CA2410959366 | ARSA | c.498G= (p.Pro166=) c.240G= (p.Pro80=) n.1002G= | |
| 22 | g.50627020C>G | CA10324993 | ARSA | c.498G>C (p.Pro166=) c.240G>C (p.Pro80=) n.1002G>C | dbSNP ExAC gnomAD v2 |
| 22 | g.50627020C>T | CA10324994 | ARSA | c.498G>A (p.Pro166=) c.240G>A (p.Pro80=) n.1002G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627021G>A | CA325531538 | ARSA | c.497C>T (p.Pro166Leu) c.239C>T (p.Pro80Leu) n.1001C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627021G>C | CA412177891 | ARSA | c.497C>G (p.Pro166Arg) c.239C>G (p.Pro80Arg) n.1001C>G | |
| 22 | g.50627021G= | CA2410959367 | ARSA | c.497C= (p.Pro166=) c.239C= (p.Pro80=) n.1001C= | |
| 22 | g.50627021G>T | CA412177893 | ARSA | c.497C>A (p.Pro166Gln) c.239C>A (p.Pro80Gln) n.1001C>A | gnomAD v4 |
| 22 | g.50627022G>A | CA325531540 | ARSA | c.496C>T (p.Pro166Ser) c.238C>T (p.Pro80Ser) n.1000C>T | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50627022G>C | CA412177897 | ARSA | c.496C>G (p.Pro166Ala) c.238C>G (p.Pro80Ala) n.1000C>G | |
| 22 | g.50627022G= | CA2410959368 | ARSA | c.496C= (p.Pro166=) c.238C= (p.Pro80=) n.1000C= | |
| 22 | g.50627022G>T | CA412177898 | ARSA | c.496C>A (p.Pro166Thr) c.238C>A (p.Pro80Thr) n.1000C>A | |
| 22 | g.50627023C>A | CA325531542 | ARSA | c.495G>T (p.Pro165=) c.237G>T (p.Pro79=) n.999G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627023C= | CA2410959369 | ARSA | c.495G= (p.Pro165=) c.237G= (p.Pro79=) n.999G= | |
| 22 | g.50627023C>G | CA515391509 | ARSA | c.495G>C (p.Pro165=) c.237G>C (p.Pro79=) n.999G>C | dbSNP COSMIC |
| 22 | g.50627023C>T | CA10324995 | ARSA | c.495G>A (p.Pro165=) c.237G>A (p.Pro79=) n.999G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627024G>A | CA412177906 | ARSA | c.494C>T (p.Pro165Leu) c.236C>T (p.Pro79Leu) n.998C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627024G>C | CA412177915 | ARSA | c.494C>G (p.Pro165Arg) c.236C>G (p.Pro79Arg) n.998C>G | |
| 22 | g.50627024G= | CA2410959370 | ARSA | c.494C= (p.Pro165=) c.236C= (p.Pro79=) n.998C= | |
| 22 | g.50627024G>T | CA412177919 | ARSA | c.494C>A (p.Pro165Gln) c.236C>A (p.Pro79Gln) n.998C>A | gnomAD v4 |
| 22 | g.50627026dup | CA16042042 | ARSA | c.494dup (p.Pro166AlafsTer10) c.236dup (p.Pro80AlafsTer10) n.998dup | ClinVar dbSNP |
| 22 | g.50627025G>A | CA412177936 | ARSA | c.493C>T (p.Pro165Ser) c.235C>T (p.Pro79Ser) n.997C>T | dbSNP |
| 22 | g.50627025G>C | CA412177933 | ARSA | c.493C>G (p.Pro165Ala) c.235C>G (p.Pro79Ala) n.997C>G | |
| 22 | g.50627025G= | CA2410959371 | ARSA | c.493C= (p.Pro165=) c.235C= (p.Pro79=) n.997C= | |
| 22 | g.50627025G>T | CA412177925 | ARSA | c.493C>A (p.Pro165Thr) c.235C>A (p.Pro79Thr) n.997C>A | |
| 22 | g.50627026G>A | CA515391511 | ARSA | c.492C>T (p.Phe164=) c.234C>T (p.Phe78=) n.996C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627026G>C | CA10324996 | ARSA | c.492C>G (p.Phe164Leu) c.234C>G (p.Phe78Leu) n.996C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627026G= | CA2410959372 | ARSA | c.492C= (p.Phe164=) c.234C= (p.Phe78=) n.996C= | |
| 22 | g.50627026G>T | CA412177940 | ARSA | c.492C>A (p.Phe164Leu) c.234C>A (p.Phe78Leu) n.996C>A | |
| 22 | g.50627027A>C | CA412177944 | ARSA | c.491T>G (p.Phe164Cys) c.233T>G (p.Phe78Cys) n.995T>G | |
| 22 | g.50627027A>G | CA412177953 | ARSA | c.491T>C (p.Phe164Ser) c.233T>C (p.Phe78Ser) n.995T>C | |
| 22 | g.50627027A>T | CA412177949 | ARSA | c.491T>A (p.Phe164Tyr) c.233T>A (p.Phe78Tyr) n.995T>A | |
| 22 | g.50627028A>C | CA412177954 | ARSA | c.490T>G (p.Phe164Val) c.232T>G (p.Phe78Val) n.994T>G | |
| 22 | g.50627028A>G | CA412177955 | ARSA | c.490T>C (p.Phe164Leu) c.232T>C (p.Phe78Leu) n.994T>C | gnomAD v4 |
| 22 | g.50627028A>T | CA412177958 | ARSA | c.490T>A (p.Phe164Ile) c.232T>A (p.Phe78Ile) n.994T>A | gnomAD v4 |
| 22 | g.50627030_50627032del | CA645612060 | ARSA | c.488_490del (p.Cys163del) c.230_232del (p.Cys77del) n.992_994del | COSMIC |
| 22 | g.50627029G>A | CA10324997 | ARSA | c.489C>T (p.Cys163=) c.231C>T (p.Cys77=) n.993C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |