| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49611297G>A | CA376719360 | CHAT,SLC18A3 | c.557G>A (p.Gly186Asp) c.-69+2098G>A (n.-69+2098G>A) | |
| 10 | g.49611297G>C | CA16042221 | CHAT,SLC18A3 | c.557G>C (p.Gly186Ala) c.-69+2098G>C (n.-69+2098G>C) | ClinVar dbSNP gnomAD v4 |
| 10 | g.49611297G= | CA1908793289 | CHAT,SLC18A3 | c.557G= (p.Gly186=) c.-69+2098G= (n.-69+2098G=) | |
| 10 | g.49611297G>T | CA376719363 | CHAT,SLC18A3 | c.557G>T (p.Gly186Val) c.-69+2098G>T (n.-69+2098G>T) | gnomAD v4 |
| 10 | g.49611298C>A | CA469791280 | CHAT,SLC18A3 | c.558C>A (p.Gly186=) c.-69+2099C>A (n.-69+2099C>A) | |
| 10 | g.49611298C>G | CA469791279 | CHAT,SLC18A3 | c.558C>G (p.Gly186=) c.-69+2099C>G (n.-69+2099C>G) | |
| 10 | g.49611298C>T | CA469791281 | CHAT,SLC18A3 | c.558C>T (p.Gly186=) c.-69+2099C>T (n.-69+2099C>T) | gnomAD v4 |
| 10 | g.49611299C>A | CA376719366 | CHAT,SLC18A3 | c.559C>A (p.Leu187Met) c.-69+2100C>A (n.-69+2100C>A) | COSMIC |
| 10 | g.49611299C>G | CA376719371 | CHAT,SLC18A3 | c.559C>G (p.Leu187Val) c.-69+2100C>G (n.-69+2100C>G) | |
| 10 | g.49611299C>T | CA469791283 | CHAT,SLC18A3 | c.559C>T (p.Leu187=) c.-69+2100C>T (n.-69+2100C>T) | gnomAD v4 |
| 10 | g.49611300T>A | CA376719375 | CHAT,SLC18A3 | c.560T>A (p.Leu187Gln) c.-69+2101T>A (n.-69+2101T>A) | |
| 10 | g.49611300T>C | CA376719377 | CHAT,SLC18A3 | c.560T>C (p.Leu187Pro) c.-69+2101T>C (n.-69+2101T>C) | |
| 10 | g.49611300T>G | CA376719381 | CHAT,SLC18A3 | c.560T>G (p.Leu187Arg) c.-69+2101T>G (n.-69+2101T>G) | |
| 10 | g.49611301G>A | CA469791290 | CHAT,SLC18A3 | c.561G>A (p.Leu187=) c.-69+2102G>A (n.-69+2102G>A) | |
| 10 | g.49611301G>C | CA469791291 | CHAT,SLC18A3 | c.561G>C (p.Leu187=) c.-69+2102G>C (n.-69+2102G>C) | COSMIC |
| 10 | g.49611301G>T | CA469791289 | CHAT,SLC18A3 | c.561G>T (p.Leu187=) c.-69+2102G>T (n.-69+2102G>T) | |
| 10 | g.49611302G>A | CA376719391 | CHAT,SLC18A3 | c.562G>A (p.Gly188Ser) c.-69+2103G>A (n.-69+2103G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611302G>C | CA5496788 | CHAT,SLC18A3 | c.562G>C (p.Gly188Arg) c.-69+2103G>C (n.-69+2103G>C) | dbSNP ExAC gnomAD v2 |
| 10 | g.49611302G= | CA1908793302 | CHAT,SLC18A3 | c.562G= (p.Gly188=) c.-69+2103G= (n.-69+2103G=) | |
| 10 | g.49611302G>T | CA376719385 | CHAT,SLC18A3 | c.562G>T (p.Gly188Cys) c.-69+2103G>T (n.-69+2103G>T) | gnomAD v4 |
| 10 | g.49611303G>A | CA376719393 | CHAT,SLC18A3 | c.563G>A (p.Gly188Asp) c.-69+2104G>A (n.-69+2104G>A) | gnomAD v4 |
| 10 | g.49611303G>C | CA376719397 | CHAT,SLC18A3 | c.563G>C (p.Gly188Ala) c.-69+2104G>C (n.-69+2104G>C) | |
| 10 | g.49611303G= | CA1908793306 | CHAT,SLC18A3 | c.563G= (p.Gly188=) c.-69+2104G= (n.-69+2104G=) | |
| 10 | g.49611303G>T | CA376719401 | CHAT,SLC18A3 | c.563G>T (p.Gly188Val) c.-69+2104G>T (n.-69+2104G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611305_49611309del | CA2574545085 | CHAT,SLC18A3 | c.565_569del (p.Ser189LeufsTer13) c.-69+2106_-69+2110del (n.-69+2106_-69+2110del) | |
| 10 | g.49611304C>A | CA469791298 | CHAT,SLC18A3 | c.564C>A (p.Gly188=) c.-69+2105C>A (n.-69+2105C>A) | |
| 10 | g.49611304C>G | CA469791299 | CHAT,SLC18A3 | c.564C>G (p.Gly188=) c.-69+2105C>G (n.-69+2105C>G) | |
| 10 | g.49611304C>T | CA469791297 | CHAT,SLC18A3 | c.564C>T (p.Gly188=) c.-69+2105C>T (n.-69+2105C>T) | |
| 10 | g.49611305T>A | CA376719403 | CHAT,SLC18A3 | c.565T>A (p.Ser189Thr) c.-69+2106T>A (n.-69+2106T>A) | |
| 10 | g.49611305T>C | CA376719404 | CHAT,SLC18A3 | c.565T>C (p.Ser189Pro) c.-69+2106T>C (n.-69+2106T>C) | |
| 10 | g.49611305T>G | CA376719407 | CHAT,SLC18A3 | c.565T>G (p.Ser189Ala) c.-69+2106T>G (n.-69+2106T>G) | |
| 10 | g.49611306C>A | CA376719409 | CHAT,SLC18A3 | c.566C>A (p.Ser189Ter) c.-69+2107C>A (n.-69+2107C>A) | |
| 10 | g.49611306C= | CA1908793311 | CHAT,SLC18A3 | c.566C= (p.Ser189=) c.-69+2107C= (n.-69+2107C=) | |
| 10 | g.49611306C>G | CA376719412 | CHAT,SLC18A3 | c.566C>G (p.Ser189Ter) c.-69+2107C>G (n.-69+2107C>G) | |
| 10 | g.49611306C>T | CA376719414 | CHAT,SLC18A3 | c.566C>T (p.Ser189Leu) c.-69+2107C>T (n.-69+2107C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611307A>C | CA469791306 | CHAT,SLC18A3 | c.567A>C (p.Ser189=) c.-69+2108A>C (n.-69+2108A>C) | |
| 10 | g.49611307A>G | CA469791304 | CHAT,SLC18A3 | c.567A>G (p.Ser189=) c.-69+2108A>G (n.-69+2108A>G) | |
| 10 | g.49611307A>T | CA469791305 | CHAT,SLC18A3 | c.567A>T (p.Ser189=) c.-69+2108A>T (n.-69+2108A>T) | |
| 10 | g.49611308G>A | CA376719418 | CHAT,SLC18A3 | c.568G>A (p.Ala190Thr) c.-69+2109G>A (n.-69+2109G>A) | |
| 10 | g.49611308G>C | CA376719421 | CHAT,SLC18A3 | c.568G>C (p.Ala190Pro) c.-69+2109G>C (n.-69+2109G>C) | |
| 10 | g.49611308G>T | CA376719423 | CHAT,SLC18A3 | c.568G>T (p.Ala190Ser) c.-69+2109G>T (n.-69+2109G>T) | gnomAD v4 |
| 10 | g.49611309C>A | CA376719430 | CHAT,SLC18A3 | c.569C>A (p.Ala190Asp) c.-69+2110C>A (n.-69+2110C>A) | |
| 10 | g.49611309C>G | CA376719433 | CHAT,SLC18A3 | c.569C>G (p.Ala190Gly) c.-69+2110C>G (n.-69+2110C>G) | dbSNP |
| 10 | g.49611309C>T | CA376719427 | CHAT,SLC18A3 | c.569C>T (p.Ala190Val) c.-69+2110C>T (n.-69+2110C>T) | gnomAD v4 |
| 10 | g.49611310C>A | CA469791311 | CHAT,SLC18A3 | c.570C>A (p.Ala190=) c.-69+2111C>A (n.-69+2111C>A) | |
| 10 | g.49611310C= | CA1908793316 | CHAT,SLC18A3 | c.570C= (p.Ala190=) c.-69+2111C= (n.-69+2111C=) | |
| 10 | g.49611310C>G | CA469791314 | CHAT,SLC18A3 | c.570C>G (p.Ala190=) c.-69+2111C>G (n.-69+2111C>G) | |
| 10 | g.49611310C>T | CA469791312 | CHAT,SLC18A3 | c.570C>T (p.Ala190=) c.-69+2111C>T (n.-69+2111C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611311T>A | CA376719435 | CHAT,SLC18A3 | c.571T>A (p.Phe191Ile) c.-69+2112T>A (n.-69+2112T>A) | |
| 10 | g.49611311T>C | CA376719437 | CHAT,SLC18A3 | c.571T>C (p.Phe191Leu) c.-69+2112T>C (n.-69+2112T>C) |