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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49610934G>A | CA376716457 | CHAT,SLC18A3 | c.194G>A (p.Arg65His) c.-69+1735G>A (n.-69+1735G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610934G>C | CA376716459 | CHAT,SLC18A3 | c.194G>C (p.Arg65Pro) c.-69+1735G>C (n.-69+1735G>C) | |
| 10 | g.49610934G= | CA1908792466 | CHAT,SLC18A3 | c.194G= (p.Arg65=) c.-69+1735G= (n.-69+1735G=) | |
| 10 | g.49610934G>T | CA376716461 | CHAT,SLC18A3 | c.194G>T (p.Arg65Leu) c.-69+1735G>T (n.-69+1735G>T) | gnomAD v4 |
| 10 | g.49610935C>A | CA469791048 | CHAT,SLC18A3 | c.195C>A (p.Arg65=) c.-69+1736C>A (n.-69+1736C>A) | |
| 10 | g.49610935C= | CA1908792468 | CHAT,SLC18A3 | c.195C= (p.Arg65=) c.-69+1736C= (n.-69+1736C=) | |
| 10 | g.49610935C>G | CA469791049 | CHAT,SLC18A3 | c.195C>G (p.Arg65=) c.-69+1736C>G (n.-69+1736C>G) | gnomAD v4 |
| 10 | g.49610935C>T | CA469791047 | CHAT,SLC18A3 | c.195C>T (p.Arg65=) c.-69+1736C>T (n.-69+1736C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610936G>A | CA5496706 | CHAT,SLC18A3 | c.196G>A (p.Gly66Arg) c.-69+1737G>A (n.-69+1737G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610936G>C | CA376716468 | CHAT,SLC18A3 | c.196G>C (p.Gly66Arg) c.-69+1737G>C (n.-69+1737G>C) | |
| 10 | g.49610936G= | CA1908792472 | CHAT,SLC18A3 | c.196G= (p.Gly66=) c.-69+1737G= (n.-69+1737G=) | |
| 10 | g.49610936G>T | CA376716471 | CHAT,SLC18A3 | c.196G>T (p.Gly66Trp) c.-69+1737G>T (n.-69+1737G>T) | |
| 10 | g.49610936_49610937delinsTT | CA645559471 | CHAT,SLC18A3 | c.196_197delinsTT (p.Gly66Leu) c.-69+1737_-69+1738delinsTT (n.-69+1737_-69+1738delinsTT) | COSMIC |
| 10 | g.49610940dup | CA2832564383 | CHAT,SLC18A3 | c.200dup (p.Gly68ArgfsTer?) c.-69+1741dup (n.-69+1741dup) | |
| 10 | g.49610937G>A | CA5496707 | CHAT,SLC18A3 | c.197G>A (p.Gly66Glu) c.-69+1738G>A (n.-69+1738G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610937G>C | CA376716476 | CHAT,SLC18A3 | c.197G>C (p.Gly66Ala) c.-69+1738G>C (n.-69+1738G>C) | |
| 10 | g.49610937G= | CA1908792479 | CHAT,SLC18A3 | c.197G= (p.Gly66=) c.-69+1738G= (n.-69+1738G=) | |
| 10 | g.49610937G>T | CA376716478 | CHAT,SLC18A3 | c.197G>T (p.Gly66Val) c.-69+1738G>T (n.-69+1738G>T) | dbSNP gnomAD v2 |
| 10 | g.49610938G>A | CA469791054 | CHAT,SLC18A3 | c.198G>A (p.Gly66=) c.-69+1739G>A (n.-69+1739G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49610938G>C | CA469791053 | CHAT,SLC18A3 | c.198G>C (p.Gly66=) c.-69+1739G>C (n.-69+1739G>C) | |
| 10 | g.49610938G= | CA1908792485 | CHAT,SLC18A3 | c.198G= (p.Gly66=) c.-69+1739G= (n.-69+1739G=) | |
| 10 | g.49610938G>T | CA469791055 | CHAT,SLC18A3 | c.198G>T (p.Gly66=) c.-69+1739G>T (n.-69+1739G>T) | |
| 10 | g.49610939G>A | CA376716481 | CHAT,SLC18A3 | c.199G>A (p.Gly67Ser) c.-69+1740G>A (n.-69+1740G>A) | gnomAD v4 |
| 10 | g.49610939G>C | CA376716484 | CHAT,SLC18A3 | c.199G>C (p.Gly67Arg) c.-69+1740G>C (n.-69+1740G>C) | |
| 10 | g.49610939G>T | CA376716487 | CHAT,SLC18A3 | c.199G>T (p.Gly67Cys) c.-69+1740G>T (n.-69+1740G>T) | |
| 10 | g.49610940G>A | CA5496708 | CHAT,SLC18A3 | c.200G>A (p.Gly67Asp) c.-69+1741G>A (n.-69+1741G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610940G>C | CA376716494 | CHAT,SLC18A3 | c.200G>C (p.Gly67Ala) c.-69+1741G>C (n.-69+1741G>C) | |
| 10 | g.49610940G= | CA1908792488 | CHAT,SLC18A3 | c.200G= (p.Gly67=) c.-69+1741G= (n.-69+1741G=) | |
| 10 | g.49610940G>T | CA376716492 | CHAT,SLC18A3 | c.200G>T (p.Gly67Val) c.-69+1741G>T (n.-69+1741G>T) | gnomAD v4 |
| 10 | g.49610941C>A | CA469791060 | CHAT,SLC18A3 | c.201C>A (p.Gly67=) c.-69+1742C>A (n.-69+1742C>A) | gnomAD v4 |
| 10 | g.49610941C>G | CA469791059 | CHAT,SLC18A3 | c.201C>G (p.Gly67=) c.-69+1742C>G (n.-69+1742C>G) | |
| 10 | g.49610941C>T | CA469791061 | CHAT,SLC18A3 | c.201C>T (p.Gly67=) c.-69+1742C>T (n.-69+1742C>T) | gnomAD v4 |
| 10 | g.49610942G>A | CA5496709 | CHAT,SLC18A3 | c.202G>A (p.Gly68Ser) c.-69+1743G>A (n.-69+1743G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49610942G>C | CA376716501 | CHAT,SLC18A3 | c.202G>C (p.Gly68Arg) c.-69+1743G>C (n.-69+1743G>C) | gnomAD v4 |
| 10 | g.49610942G= | CA1908792493 | CHAT,SLC18A3 | c.202G= (p.Gly68=) c.-69+1743G= (n.-69+1743G=) | |
| 10 | g.49610942G>T | CA376716504 | CHAT,SLC18A3 | c.202G>T (p.Gly68Cys) c.-69+1743G>T (n.-69+1743G>T) | |
| 10 | g.49610943G>A | CA376716508 | CHAT,SLC18A3 | c.203G>A (p.Gly68Asp) c.-69+1744G>A (n.-69+1744G>A) | gnomAD v4 |
| 10 | g.49610943G>C | CA376716509 | CHAT,SLC18A3 | c.203G>C (p.Gly68Ala) c.-69+1744G>C (n.-69+1744G>C) | |
| 10 | g.49610943G= | CA1908792497 | CHAT,SLC18A3 | c.203G= (p.Gly68=) c.-69+1744G= (n.-69+1744G=) | |
| 10 | g.49610943G>T | CA376716512 | CHAT,SLC18A3 | c.203G>T (p.Gly68Val) c.-69+1744G>T (n.-69+1744G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610944C>A | CA469791066 | CHAT,SLC18A3 | c.204C>A (p.Gly68=) c.-69+1745C>A (n.-69+1745C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49610944C= | CA1908792500 | CHAT,SLC18A3 | c.204C= (p.Gly68=) c.-69+1745C= (n.-69+1745C=) | |
| 10 | g.49610944C>G | CA469791062 | CHAT,SLC18A3 | c.204C>G (p.Gly68=) c.-69+1745C>G (n.-69+1745C>G) | |
| 10 | g.49610944C>T | CA469791064 | CHAT,SLC18A3 | c.204C>T (p.Gly68=) c.-69+1745C>T (n.-69+1745C>T) | COSMIC |
| 10 | g.49610945G>A | CA5496710 | CHAT,SLC18A3 | c.205G>A (p.Glu69Lys) c.-69+1746G>A (n.-69+1746G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610945G>C | CA376716518 | CHAT,SLC18A3 | c.205G>C (p.Glu69Gln) c.-69+1746G>C (n.-69+1746G>C) | |
| 10 | g.49610945G= | CA1908792501 | CHAT,SLC18A3 | c.205G= (p.Glu69=) c.-69+1746G= (n.-69+1746G=) | |
| 10 | g.49610945G>T | CA376716521 | CHAT,SLC18A3 | c.205G>T (p.Glu69Ter) c.-69+1746G>T (n.-69+1746G>T) | gnomAD v4 |
| 10 | g.49610946A>C | CA376716526 | CHAT,SLC18A3 | c.206A>C (p.Glu69Ala) c.-69+1747A>C (n.-69+1747A>C) | |
| 10 | g.49610946A>G | CA376716529 | CHAT,SLC18A3 | c.206A>G (p.Glu69Gly) c.-69+1747A>G (n.-69+1747A>G) | gnomAD v4 |
| 10 | g.49610946A>T | CA376716532 | CHAT,SLC18A3 | c.206A>T (p.Glu69Val) c.-69+1747A>T (n.-69+1747A>T) | |
| 10 | g.49610947G>A | CA469791068 | CHAT,SLC18A3 | c.207G>A (p.Glu69=) c.-69+1748G>A (n.-69+1748G>A) | |
| 10 | g.49610947G>C | CA5496711 | CHAT,SLC18A3 | c.207G>C (p.Glu69Asp) c.-69+1748G>C (n.-69+1748G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49610947G= | CA1908792508 | CHAT,SLC18A3 | c.207G= (p.Glu69=) c.-69+1748G= (n.-69+1748G=) | |
| 10 | g.49610947G>T | CA376716537 | CHAT,SLC18A3 | c.207G>T (p.Glu69Asp) c.-69+1748G>T (n.-69+1748G>T) | |
| 10 | g.49610948G>A | CA5496712 | CHAT,SLC18A3 | c.208G>A (p.Gly70Ser) c.-69+1749G>A (n.-69+1749G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610948G>C | CA376716545 | CHAT,SLC18A3 | c.208G>C (p.Gly70Arg) c.-69+1749G>C (n.-69+1749G>C) | |
| 10 | g.49610948G= | CA1908792510 | CHAT,SLC18A3 | c.208G= (p.Gly70=) c.-69+1749G= (n.-69+1749G=) | |
| 10 | g.49610948G>T | CA376716540 | CHAT,SLC18A3 | c.208G>T (p.Gly70Cys) c.-69+1749G>T (n.-69+1749G>T) | |
| 10 | g.49610949G>A | CA376716548 | CHAT,SLC18A3 | c.209G>A (p.Gly70Asp) c.-69+1750G>A (n.-69+1750G>A) | dbSNP gnomAD v4 |
| 10 | g.49610949G>C | CA376716551 | CHAT,SLC18A3 | c.209G>C (p.Gly70Ala) c.-69+1750G>C (n.-69+1750G>C) | |
| 10 | g.49610949G= | CA1908792515 | CHAT,SLC18A3 | c.209G= (p.Gly70=) c.-69+1750G= (n.-69+1750G=) | |
| 10 | g.49610949G>T | CA5496713 | CHAT,SLC18A3 | c.209G>T (p.Gly70Val) c.-69+1750G>T (n.-69+1750G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610950C>A | CA469791073 | CHAT,SLC18A3 | c.210C>A (p.Gly70=) c.-69+1751C>A (n.-69+1751C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49610950C= | CA1908792521 | CHAT,SLC18A3 | c.210C= (p.Gly70=) c.-69+1751C= (n.-69+1751C=) | |
| 10 | g.49610950C>G | CA469791074 | CHAT,SLC18A3 | c.210C>G (p.Gly70=) c.-69+1751C>G (n.-69+1751C>G) | |
| 10 | g.49610950C>T | CA469791072 | CHAT,SLC18A3 | c.210C>T (p.Gly70=) c.-69+1751C>T (n.-69+1751C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610951C>A | CA376716558 | CHAT,SLC18A3 | c.211C>A (p.Pro71Thr) c.-69+1752C>A (n.-69+1752C>A) | gnomAD v4 |
| 10 | g.49610951C>G | CA376716560 | CHAT,SLC18A3 | c.211C>G (p.Pro71Ala) c.-69+1752C>G (n.-69+1752C>G) | gnomAD v4 |
| 10 | g.49610951C>T | CA376716561 | CHAT,SLC18A3 | c.211C>T (p.Pro71Ser) c.-69+1752C>T (n.-69+1752C>T) | |
| 10 | g.49610952C>A | CA376716565 | CHAT,SLC18A3 | c.212C>A (p.Pro71His) c.-69+1753C>A (n.-69+1753C>A) | gnomAD v4 |
| 10 | g.49610952C>G | CA376716569 | CHAT,SLC18A3 | c.212C>G (p.Pro71Arg) c.-69+1753C>G (n.-69+1753C>G) | |
| 10 | g.49610952C>T | CA376716572 | CHAT,SLC18A3 | c.212C>T (p.Pro71Leu) c.-69+1753C>T (n.-69+1753C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49610953C>A | CA469791078 | CHAT,SLC18A3 | c.213C>A (p.Pro71=) c.-69+1754C>A (n.-69+1754C>A) | |
| 10 | g.49610953C>G | CA469791076 | CHAT,SLC18A3 | c.213C>G (p.Pro71=) c.-69+1754C>G (n.-69+1754C>G) | |
| 10 | g.49610953C>T | CA469791077 | CHAT,SLC18A3 | c.213C>T (p.Pro71=) c.-69+1754C>T (n.-69+1754C>T) | |
| 10 | g.49610954A= | CA1908792528 | CHAT,SLC18A3 | c.214A= (p.Thr72=) c.-69+1755A= (n.-69+1755A=) | |
| 10 | g.49610954A>C | CA376716577 | CHAT,SLC18A3 | c.214A>C (p.Thr72Pro) c.-69+1755A>C (n.-69+1755A>C) | |
| 10 | g.49610954A>G | CA376716580 | CHAT,SLC18A3 | c.214A>G (p.Thr72Ala) c.-69+1755A>G (n.-69+1755A>G) | dbSNP gnomAD v4 |
| 10 | g.49610954A>T | CA376716583 | CHAT,SLC18A3 | c.214A>T (p.Thr72Ser) c.-69+1755A>T (n.-69+1755A>T) | |
| 10 | g.49610955C>A | CA376716592 | CHAT,SLC18A3 | c.215C>A (p.Thr72Asn) c.-69+1756C>A (n.-69+1756C>A) | dbSNP |
| 10 | g.49610955C= | CA1908792529 | CHAT,SLC18A3 | c.215C= (p.Thr72=) c.-69+1756C= (n.-69+1756C=) | |
| 10 | g.49610955C>G | CA376716590 | CHAT,SLC18A3 | c.215C>G (p.Thr72Ser) c.-69+1756C>G (n.-69+1756C>G) | |
| 10 | g.49610955C>T | CA376716586 | CHAT,SLC18A3 | c.215C>T (p.Thr72Ile) c.-69+1756C>T (n.-69+1756C>T) | dbSNP |
| 10 | g.49610956C>A | CA469791081 | CHAT,SLC18A3 | c.216C>A (p.Thr72=) c.-69+1757C>A (n.-69+1757C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49610956C= | CA1908792532 | CHAT,SLC18A3 | c.216C= (p.Thr72=) c.-69+1757C= (n.-69+1757C=) | |
| 10 | g.49610956C>G | CA469791080 | CHAT,SLC18A3 | c.216C>G (p.Thr72=) c.-69+1757C>G (n.-69+1757C>G) | |
| 10 | g.49610956C>T | CA469791082 | CHAT,SLC18A3 | c.216C>T (p.Thr72=) c.-69+1757C>T (n.-69+1757C>T) | gnomAD v4 |
| 10 | g.49610957C>A | CA469791083 | CHAT,SLC18A3 | c.217C>A (p.Arg73=) c.-69+1758C>A (n.-69+1758C>A) | gnomAD v4 |
| 10 | g.49610957C>G | CA376716596 | CHAT,SLC18A3 | c.217C>G (p.Arg73Gly) c.-69+1758C>G (n.-69+1758C>G) | |
| 10 | g.49610957C>T | CA376716600 | CHAT,SLC18A3 | c.217C>T (p.Arg73Trp) c.-69+1758C>T (n.-69+1758C>T) | |
| 10 | g.49610958G>A | CA376716603 | CHAT,SLC18A3 | c.218G>A (p.Arg73Gln) c.-69+1759G>A (n.-69+1759G>A) | |
| 10 | g.49610958G>C | CA376716604 | CHAT,SLC18A3 | c.218G>C (p.Arg73Pro) c.-69+1759G>C (n.-69+1759G>C) | |
| 10 | g.49610958G>T | CA376716607 | CHAT,SLC18A3 | c.218G>T (p.Arg73Leu) c.-69+1759G>T (n.-69+1759G>T) | |
| 10 | g.49610959G>A | CA469791085 | CHAT,SLC18A3 | c.219G>A (p.Arg73=) c.-69+1760G>A (n.-69+1760G>A) | |
| 10 | g.49610959G>C | CA469791084 | CHAT,SLC18A3 | c.219G>C (p.Arg73=) c.-69+1760G>C (n.-69+1760G>C) | |
| 10 | g.49610959G= | CA1908792538 | CHAT,SLC18A3 | c.219G= (p.Arg73=) c.-69+1760G= (n.-69+1760G=) | |
| 10 | g.49610959G>T | CA206620833 | CHAT,SLC18A3 | c.219G>T (p.Arg73=) c.-69+1760G>T (n.-69+1760G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610960A= | CA1908792545 | CHAT,SLC18A3 | c.220A= (p.Thr74=) c.-69+1761A= (n.-69+1761A=) | |
| 10 | g.49610960A>C | CA376716612 | CHAT,SLC18A3 | c.220A>C (p.Thr74Pro) c.-69+1761A>C (n.-69+1761A>C) | gnomAD v4 |
| 10 | g.49610960A>G | CA376716615 | CHAT,SLC18A3 | c.220A>G (p.Thr74Ala) c.-69+1761A>G (n.-69+1761A>G) | dbSNP gnomAD v4 |
| 10 | g.49610960A>T | CA376716617 | CHAT,SLC18A3 | c.220A>T (p.Thr74Ser) c.-69+1761A>T (n.-69+1761A>T) | |
| 10 | g.49610961C>A | CA376716623 | CHAT,SLC18A3 | c.221C>A (p.Thr74Asn) c.-69+1762C>A (n.-69+1762C>A) | |
| 10 | g.49610961C>G | CA376716625 | CHAT,SLC18A3 | c.221C>G (p.Thr74Ser) c.-69+1762C>G (n.-69+1762C>G) | |
| 10 | g.49610961C>T | CA376716630 | CHAT,SLC18A3 | c.221C>T (p.Thr74Ile) c.-69+1762C>T (n.-69+1762C>T) | gnomAD v4 |
| 10 | g.49610962T>A | CA469791088 | CHAT,SLC18A3 | c.222T>A (p.Thr74=) c.-69+1763T>A (n.-69+1763T>A) | |
| 10 | g.49610962T>C | CA469791089 | CHAT,SLC18A3 | c.222T>C (p.Thr74=) c.-69+1763T>C (n.-69+1763T>C) | |
| 10 | g.49610962T>G | CA469791090 | CHAT,SLC18A3 | c.222T>G (p.Thr74=) c.-69+1763T>G (n.-69+1763T>G) | |
| 10 | g.49610963C>A | CA376716641 | CHAT,SLC18A3 | c.223C>A (p.Pro75Thr) c.-69+1764C>A (n.-69+1764C>A) | |
| 10 | g.49610963C= | CA1908792549 | CHAT,SLC18A3 | c.223C= (p.Pro75=) c.-69+1764C= (n.-69+1764C=) | |
| 10 | g.49610963C>G | CA376716637 | CHAT,SLC18A3 | c.223C>G (p.Pro75Ala) c.-69+1764C>G (n.-69+1764C>G) | |
| 10 | g.49610963C>T | CA376716634 | CHAT,SLC18A3 | c.223C>T (p.Pro75Ser) c.-69+1764C>T (n.-69+1764C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49610963_49610965dup | CA2609114747 | CHAT,SLC18A3 | c.223_225dup (p.Pro75_Glu76insPro) c.-69+1764_-69+1766dup (n.-69+1764_-69+1766dup) | gnomAD v4 |
| 10 | g.49610964C>A | CA376716644 | CHAT,SLC18A3 | c.224C>A (p.Pro75His) c.-69+1765C>A (n.-69+1765C>A) | |
| 10 | g.49610964C>G | CA376716648 | CHAT,SLC18A3 | c.224C>G (p.Pro75Arg) c.-69+1765C>G (n.-69+1765C>G) | |
| 10 | g.49610964C>T | CA376716646 | CHAT,SLC18A3 | c.224C>T (p.Pro75Leu) c.-69+1765C>T (n.-69+1765C>T) | |
| 10 | g.49610965C>A | CA469791091 | CHAT,SLC18A3 | c.225C>A (p.Pro75=) c.-69+1766C>A (n.-69+1766C>A) | |
| 10 | g.49610965C= | CA1908792558 | CHAT,SLC18A3 | c.225C= (p.Pro75=) c.-69+1766C= (n.-69+1766C=) | |
| 10 | g.49610965C>G | CA469791093 | CHAT,SLC18A3 | c.225C>G (p.Pro75=) c.-69+1766C>G (n.-69+1766C>G) | gnomAD v4 |
| 10 | g.49610965C>T | CA5496714 | CHAT,SLC18A3 | c.225C>T (p.Pro75=) c.-69+1766C>T (n.-69+1766C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610966G>A | CA376716656 | CHAT,SLC18A3 | c.226G>A (p.Glu76Lys) c.-69+1767G>A (n.-69+1767G>A) | gnomAD v4 COSMIC |
| 10 | g.49610966G>C | CA376716658 | CHAT,SLC18A3 | c.226G>C (p.Glu76Gln) c.-69+1767G>C (n.-69+1767G>C) | gnomAD v4 |
| 10 | g.49610966G>T | CA376716659 | CHAT,SLC18A3 | c.226G>T (p.Glu76Ter) c.-69+1767G>T (n.-69+1767G>T) | |
| 10 | g.49610967A>C | CA376716662 | CHAT,SLC18A3 | c.227A>C (p.Glu76Ala) c.-69+1768A>C (n.-69+1768A>C) | |
| 10 | g.49610967A>G | CA376716665 | CHAT,SLC18A3 | c.227A>G (p.Glu76Gly) c.-69+1768A>G (n.-69+1768A>G) | |
| 10 | g.49610967A>T | CA376716667 | CHAT,SLC18A3 | c.227A>T (p.Glu76Val) c.-69+1768A>T (n.-69+1768A>T) | |
| 10 | g.49610967_49610968delinsAG | CA1908792562 | CHAT,SLC18A3 | c.227_228delinsAG (p.Glu76=) c.-69+1768_-69+1769delinsAG (n.-69+1768_-69+1769delinsAG) | |
| 10 | g.49610968G>A | CA469791095 | CHAT,SLC18A3 | c.228G>A (p.Glu76=) c.-69+1769G>A (n.-69+1769G>A) | |
| 10 | g.49610968G>C | CA5496716 | CHAT,SLC18A3 | c.228G>C (p.Glu76Asp) c.-69+1769G>C (n.-69+1769G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49610968G= | CA1908792571 | CHAT,SLC18A3 | c.228G= (p.Glu76=) c.-69+1769G= (n.-69+1769G=) | |
| 10 | g.49610968G>T | CA376716674 | CHAT,SLC18A3 | c.228G>T (p.Glu76Asp) c.-69+1769G>T (n.-69+1769G>T) | COSMIC |
| 10 | g.49610969del | CA5496715 | CHAT,SLC18A3 | c.229del (p.Val77CysfsTer?) c.-69+1770del (n.-69+1770del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49610969G>A | CA206620842 | CHAT,SLC18A3 | c.229G>A (p.Val77Met) c.-69+1770G>A (n.-69+1770G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610969G>C | CA376716681 | CHAT,SLC18A3 | c.229G>C (p.Val77Leu) c.-69+1770G>C (n.-69+1770G>C) | |
| 10 | g.49610969G= | CA1908792580 | CHAT,SLC18A3 | c.229G= (p.Val77=) c.-69+1770G= (n.-69+1770G=) | |
| 10 | g.49610969G>T | CA376716682 | CHAT,SLC18A3 | c.229G>T (p.Val77Leu) c.-69+1770G>T (n.-69+1770G>T) | gnomAD v4 |
| 10 | g.49610970T>A | CA376716692 | CHAT,SLC18A3 | c.230T>A (p.Val77Glu) c.-69+1771T>A (n.-69+1771T>A) | |
| 10 | g.49610970T>C | CA376716690 | CHAT,SLC18A3 | c.230T>C (p.Val77Ala) c.-69+1771T>C (n.-69+1771T>C) | |
| 10 | g.49610970T>G | CA376716686 | CHAT,SLC18A3 | c.230T>G (p.Val77Gly) c.-69+1771T>G (n.-69+1771T>G) | |
| 10 | g.49610971G>A | CA469791101 | CHAT,SLC18A3 | c.231G>A (p.Val77=) c.-69+1772G>A (n.-69+1772G>A) | dbSNP gnomAD v4 |
| 10 | g.49610971G>C | CA469791100 | CHAT,SLC18A3 | c.231G>C (p.Val77=) c.-69+1772G>C (n.-69+1772G>C) | |
| 10 | g.49610971G= | CA1908792583 | CHAT,SLC18A3 | c.231G= (p.Val77=) c.-69+1772G= (n.-69+1772G=) | |
| 10 | g.49610971G>T | CA469791099 | CHAT,SLC18A3 | c.231G>T (p.Val77=) c.-69+1772G>T (n.-69+1772G>T) | |
| 10 | g.49610971_49610984delinsGTGGGAGCCCACCC | CA1908792585 | CHAT,SLC18A3 | c.231_244delinsGTGGGAGCCCACCC (p.Val77=) c.-69+1772_-69+1785delinsGTGGGAGCCCACCC (n.-69+1772_-69+1785delinsGTGGGAGCCCACCC) | |
| 10 | g.49610972T>A | CA376716696 | CHAT,SLC18A3 | c.232T>A (p.Trp78Arg) c.-69+1773T>A (n.-69+1773T>A) | |
| 10 | g.49610972T>C | CA376716700 | CHAT,SLC18A3 | c.232T>C (p.Trp78Arg) c.-69+1773T>C (n.-69+1773T>C) | |
| 10 | g.49610972T>G | CA5496718 | CHAT,SLC18A3 | c.232T>G (p.Trp78Gly) c.-69+1773T>G (n.-69+1773T>G) | dbSNP ExAC gnomAD v4 |
| 10 | g.49610972T= | CA1908792597 | CHAT,SLC18A3 | c.232T= (p.Trp78=) c.-69+1773T= (n.-69+1773T=) | |
| 10 | g.49610974_49610986del | CA5496717 | CHAT,SLC18A3 | c.234_246del (p.Trp78CysfsTer?) c.-69+1775_-69+1787del (n.-69+1775_-69+1787del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49610973G>A | CA376716705 | CHAT,SLC18A3 | c.233G>A (p.Trp78Ter) c.-69+1774G>A (n.-69+1774G>A) | |
| 10 | g.49610973G>C | CA376716707 | CHAT,SLC18A3 | c.233G>C (p.Trp78Ser) c.-69+1774G>C (n.-69+1774G>C) | |
| 10 | g.49610973G= | CA1908792605 | CHAT,SLC18A3 | c.233G= (p.Trp78=) c.-69+1774G= (n.-69+1774G=) | |
| 10 | g.49610973G>T | CA206620851 | CHAT,SLC18A3 | c.233G>T (p.Trp78Leu) c.-69+1774G>T (n.-69+1774G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49610974G>A | CA376716710 | CHAT,SLC18A3 | c.234G>A (p.Trp78Ter) c.-69+1775G>A (n.-69+1775G>A) | gnomAD v4 |
| 10 | g.49610974G>C | CA5496719 | CHAT,SLC18A3 | c.234G>C (p.Trp78Cys) c.-69+1775G>C (n.-69+1775G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610974G= | CA1908792610 | CHAT,SLC18A3 | c.234G= (p.Trp78=) c.-69+1775G= (n.-69+1775G=) | |
| 10 | g.49610974G>T | CA376716712 | CHAT,SLC18A3 | c.234G>T (p.Trp78Cys) c.-69+1775G>T (n.-69+1775G>T) | |
| 10 | g.49610975G>A | CA376716717 | CHAT,SLC18A3 | c.235G>A (p.Glu79Lys) c.-69+1776G>A (n.-69+1776G>A) | |
| 10 | g.49610975G>C | CA376716718 | CHAT,SLC18A3 | c.235G>C (p.Glu79Gln) c.-69+1776G>C (n.-69+1776G>C) | |
| 10 | g.49610975G= | CA1908792620 | CHAT,SLC18A3 | c.235G= (p.Glu79=) c.-69+1776G= (n.-69+1776G=) | |
| 10 | g.49610975G>T | CA376716721 | CHAT,SLC18A3 | c.235G>T (p.Glu79Ter) c.-69+1776G>T (n.-69+1776G>T) | dbSNP |
| 10 | g.49610976A>C | CA376716728 | CHAT,SLC18A3 | c.236A>C (p.Glu79Ala) c.-69+1777A>C (n.-69+1777A>C) | |
| 10 | g.49610976A>G | CA376716730 | CHAT,SLC18A3 | c.236A>G (p.Glu79Gly) c.-69+1777A>G (n.-69+1777A>G) | |
| 10 | g.49610976A>T | CA376716725 | CHAT,SLC18A3 | c.236A>T (p.Glu79Val) c.-69+1777A>T (n.-69+1777A>T) | gnomAD v4 |
| 10 | g.49610977G>A | CA206620859 | CHAT,SLC18A3 | c.237G>A (p.Glu79=) c.-69+1778G>A (n.-69+1778G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610977G>C | CA5496720 | CHAT,SLC18A3 | c.237G>C (p.Glu79Asp) c.-69+1778G>C (n.-69+1778G>C) | dbSNP ExAC gnomAD v2 |
| 10 | g.49610977G= | CA1908792624 | CHAT,SLC18A3 | c.237G= (p.Glu79=) c.-69+1778G= (n.-69+1778G=) | |
| 10 | g.49610977G>T | CA376716735 | CHAT,SLC18A3 | c.237G>T (p.Glu79Asp) c.-69+1778G>T (n.-69+1778G>T) | |
| 10 | g.49610978C>A | CA376716738 | CHAT,SLC18A3 | c.238C>A (p.Pro80Thr) c.-69+1779C>A (n.-69+1779C>A) | |
| 10 | g.49610978C= | CA1908792627 | CHAT,SLC18A3 | c.238C= (p.Pro80=) c.-69+1779C= (n.-69+1779C=) | |
| 10 | g.49610978C>G | CA376716740 | CHAT,SLC18A3 | c.238C>G (p.Pro80Ala) c.-69+1779C>G (n.-69+1779C>G) | |
| 10 | g.49610978C>T | CA206620862 | CHAT,SLC18A3 | c.238C>T (p.Pro80Ser) c.-69+1779C>T (n.-69+1779C>T) | ClinVar dbSNP gnomAD v4 |
| 10 | g.49610979C>A | CA376716745 | CHAT,SLC18A3 | c.239C>A (p.Pro80His) c.-69+1780C>A (n.-69+1780C>A) | |
| 10 | g.49610979C= | CA1908792629 | CHAT,SLC18A3 | c.239C= (p.Pro80=) c.-69+1780C= (n.-69+1780C=) | |
| 10 | g.49610979C>G | CA5496721 | CHAT,SLC18A3 | c.239C>G (p.Pro80Arg) c.-69+1780C>G (n.-69+1780C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610979C>T | CA5496722 | CHAT,SLC18A3 | c.239C>T (p.Pro80Leu) c.-69+1780C>T (n.-69+1780C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610980C>A | CA469791115 | CHAT,SLC18A3 | c.240C>A (p.Pro80=) c.-69+1781C>A (n.-69+1781C>A) | |
| 10 | g.49610980C>G | CA469791117 | CHAT,SLC18A3 | c.240C>G (p.Pro80=) c.-69+1781C>G (n.-69+1781C>G) | gnomAD v4 |
| 10 | g.49610980C>T | CA469791114 | CHAT,SLC18A3 | c.240C>T (p.Pro80=) c.-69+1781C>T (n.-69+1781C>T) | ClinVar dbSNP |
| 10 | g.49610981A= | CA1908792632 | CHAT,SLC18A3 | c.241A= (p.Thr81=) c.-69+1782A= (n.-69+1782A=) | |
| 10 | g.49610981A>C | CA5496723 | CHAT,SLC18A3 | c.241A>C (p.Thr81Pro) c.-69+1782A>C (n.-69+1782A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610981A>G | CA376716752 | CHAT,SLC18A3 | c.241A>G (p.Thr81Ala) c.-69+1782A>G (n.-69+1782A>G) | |
| 10 | g.49610981A>T | CA376716755 | CHAT,SLC18A3 | c.241A>T (p.Thr81Ser) c.-69+1782A>T (n.-69+1782A>T) | gnomAD v4 |
| 10 | g.49610982C>A | CA376716762 | CHAT,SLC18A3 | c.242C>A (p.Thr81Asn) c.-69+1783C>A (n.-69+1783C>A) | |
| 10 | g.49610982C= | CA1908792634 | CHAT,SLC18A3 | c.242C= (p.Thr81=) c.-69+1783C= (n.-69+1783C=) | |
| 10 | g.49610982C>G | CA376716761 | CHAT,SLC18A3 | c.242C>G (p.Thr81Ser) c.-69+1783C>G (n.-69+1783C>G) | |
| 10 | g.49610982C>T | CA5496724 | CHAT,SLC18A3 | c.242C>T (p.Thr81Ile) c.-69+1783C>T (n.-69+1783C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610983C>A | CA469791125 | CHAT,SLC18A3 | c.243C>A (p.Thr81=) c.-69+1784C>A (n.-69+1784C>A) | gnomAD v4 |
| 10 | g.49610983C>G | CA469791126 | CHAT,SLC18A3 | c.243C>G (p.Thr81=) c.-69+1784C>G (n.-69+1784C>G) | |
| 10 | g.49610983C>T | CA469791127 | CHAT,SLC18A3 | c.243C>T (p.Thr81=) c.-69+1784C>T (n.-69+1784C>T) | |
| 10 | g.49610984C>A | CA376716767 | CHAT,SLC18A3 | c.244C>A (p.Leu82Met) c.-69+1785C>A (n.-69+1785C>A) | |
| 10 | g.49610984C= | CA1908792637 | CHAT,SLC18A3 | c.244C= (p.Leu82=) c.-69+1785C= (n.-69+1785C=) | |
| 10 | g.49610984C>G | CA376716770 | CHAT,SLC18A3 | c.244C>G (p.Leu82Val) c.-69+1785C>G (n.-69+1785C>G) | |
| 10 | g.49610984C>T | CA5496725 | CHAT,SLC18A3 | c.244C>T (p.Leu82=) c.-69+1785C>T (n.-69+1785C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610985T>A | CA376716773 | CHAT,SLC18A3 | c.245T>A (p.Leu82Gln) c.-69+1786T>A (n.-69+1786T>A) | dbSNP |
| 10 | g.49610985T>C | CA376716774 | CHAT,SLC18A3 | c.245T>C (p.Leu82Pro) c.-69+1786T>C (n.-69+1786T>C) | |
| 10 | g.49610985T>G | CA376716776 | CHAT,SLC18A3 | c.245T>G (p.Leu82Arg) c.-69+1786T>G (n.-69+1786T>G) | |
| 10 | g.49610985T= | CA1908792639 | CHAT,SLC18A3 | c.245T= (p.Leu82=) c.-69+1786T= (n.-69+1786T=) | |
| 10 | g.49610986G>A | CA469791135 | CHAT,SLC18A3 | c.246G>A (p.Leu82=) c.-69+1787G>A (n.-69+1787G>A) | |
| 10 | g.49610986G>C | CA469791133 | CHAT,SLC18A3 | c.246G>C (p.Leu82=) c.-69+1787G>C (n.-69+1787G>C) | |
| 10 | g.49610986G= | CA1908792641 | CHAT,SLC18A3 | c.246G= (p.Leu82=) c.-69+1787G= (n.-69+1787G=) | |
| 10 | g.49610986G>T | CA469791132 | CHAT,SLC18A3 | c.246G>T (p.Leu82=) c.-69+1787G>T (n.-69+1787G>T) | dbSNP |
| 10 | g.49610987C>A | CA376716781 | CHAT,SLC18A3 | c.247C>A (p.Pro83Thr) c.-69+1788C>A (n.-69+1788C>A) | |
| 10 | g.49610987C>G | CA376716783 | CHAT,SLC18A3 | c.247C>G (p.Pro83Ala) c.-69+1788C>G (n.-69+1788C>G) | |
| 10 | g.49610987C>T | CA376716784 | CHAT,SLC18A3 | c.247C>T (p.Pro83Ser) c.-69+1788C>T (n.-69+1788C>T) | gnomAD v4 |
| 10 | g.49610988C>A | CA376716787 | CHAT,SLC18A3 | c.248C>A (p.Pro83Gln) c.-69+1789C>A (n.-69+1789C>A) | |
| 10 | g.49610988C>G | CA376716789 | CHAT,SLC18A3 | c.248C>G (p.Pro83Arg) c.-69+1789C>G (n.-69+1789C>G) | |
| 10 | g.49610988C>T | CA376716792 | CHAT,SLC18A3 | c.248C>T (p.Pro83Leu) c.-69+1789C>T (n.-69+1789C>T) | gnomAD v4 |
| 10 | g.49610989G>A | CA5496726 | CHAT,SLC18A3 | c.249G>A (p.Pro83=) c.-69+1790G>A (n.-69+1790G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49610989G>C | CA469791144 | CHAT,SLC18A3 | c.249G>C (p.Pro83=) c.-69+1790G>C (n.-69+1790G>C) | |
| 10 | g.49610989G= | CA1908792644 | CHAT,SLC18A3 | c.249G= (p.Pro83=) c.-69+1790G= (n.-69+1790G=) | |
| 10 | g.49610989G>T | CA5496727 | CHAT,SLC18A3 | c.249G>T (p.Pro83=) c.-69+1790G>T (n.-69+1790G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49610990C>A | CA376716800 | CHAT,SLC18A3 | c.250C>A (p.Leu84Met) c.-69+1791C>A (n.-69+1791C>A) | |
| 10 | g.49610990C>G | CA376716803 | CHAT,SLC18A3 | c.250C>G (p.Leu84Val) c.-69+1791C>G (n.-69+1791C>G) | |
| 10 | g.49610990C>T | CA469791145 | CHAT,SLC18A3 | c.250C>T (p.Leu84=) c.-69+1791C>T (n.-69+1791C>T) | |
| 10 | g.49610991T>A | CA376716807 | CHAT,SLC18A3 | c.251T>A (p.Leu84Gln) c.-69+1792T>A (n.-69+1792T>A) | |
| 10 | g.49610991T>C | CA376716809 | CHAT,SLC18A3 | c.251T>C (p.Leu84Pro) c.-69+1792T>C (n.-69+1792T>C) | |
| 10 | g.49610991T>G | CA5496728 | CHAT,SLC18A3 | c.251T>G (p.Leu84Arg) c.-69+1792T>G (n.-69+1792T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610991T= | CA1908792650 | CHAT,SLC18A3 | c.251T= (p.Leu84=) c.-69+1792T= (n.-69+1792T=) | |
| 10 | g.49610992G>A | CA469791146 | CHAT,SLC18A3 | c.252G>A (p.Leu84=) c.-69+1793G>A (n.-69+1793G>A) | |
| 10 | g.49610992G>C | CA469791147 | CHAT,SLC18A3 | c.252G>C (p.Leu84=) c.-69+1793G>C (n.-69+1793G>C) | |
| 10 | g.49610992G= | CA1908792657 | CHAT,SLC18A3 | c.252G= (p.Leu84=) c.-69+1793G= (n.-69+1793G=) | |
| 10 | g.49610992G>T | CA206620882 | CHAT,SLC18A3 | c.252G>T (p.Leu84=) c.-69+1793G>T (n.-69+1793G>T) | dbSNP |
| 10 | g.49610993C>A | CA376716815 | CHAT,SLC18A3 | c.253C>A (p.Pro85Thr) c.-69+1794C>A (n.-69+1794C>A) | |
| 10 | g.49610993C>G | CA376716818 | CHAT,SLC18A3 | c.253C>G (p.Pro85Ala) c.-69+1794C>G (n.-69+1794C>G) | |
| 10 | g.49610993C>T | CA376716822 | CHAT,SLC18A3 | c.253C>T (p.Pro85Ser) c.-69+1794C>T (n.-69+1794C>T) | gnomAD v4 |
| 10 | g.49610994C>A | CA376716825 | CHAT,SLC18A3 | c.254C>A (p.Pro85His) c.-69+1795C>A (n.-69+1795C>A) | dbSNP |
| 10 | g.49610994C= | CA1908792661 | CHAT,SLC18A3 | c.254C= (p.Pro85=) c.-69+1795C= (n.-69+1795C=) | |
| 10 | g.49610994C>G | CA376716827 | CHAT,SLC18A3 | c.254C>G (p.Pro85Arg) c.-69+1795C>G (n.-69+1795C>G) | |
| 10 | g.49610994C>T | CA376716829 | CHAT,SLC18A3 | c.254C>T (p.Pro85Leu) c.-69+1795C>T (n.-69+1795C>T) | |
| 10 | g.49610995C>A | CA469791154 | CHAT,SLC18A3 | c.255C>A (p.Pro85=) c.-69+1796C>A (n.-69+1796C>A) | |
| 10 | g.49610995C= | CA1908792665 | CHAT,SLC18A3 | c.255C= (p.Pro85=) c.-69+1796C= (n.-69+1796C=) | |
| 10 | g.49610995C>G | CA469791155 | CHAT,SLC18A3 | c.255C>G (p.Pro85=) c.-69+1796C>G (n.-69+1796C>G) | |
| 10 | g.49610995C>T | CA5496729 | CHAT,SLC18A3 | c.255C>T (p.Pro85=) c.-69+1796C>T (n.-69+1796C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610995_49610996insT | CA1908792672 | CHAT,SLC18A3 | c.255_256insT (p.Thr86TyrfsTer?) c.-69+1796_-69+1797insT (n.-69+1796_-69+1797insT) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49610996A= | CA1908792673 | CHAT,SLC18A3 | c.256A= (p.Thr86=) c.-69+1797A= (n.-69+1797A=) | |
| 10 | g.49610996A>C | CA376716831 | CHAT,SLC18A3 | c.256A>C (p.Thr86Pro) c.-69+1797A>C (n.-69+1797A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610996A>G | CA376716832 | CHAT,SLC18A3 | c.256A>G (p.Thr86Ala) c.-69+1797A>G (n.-69+1797A>G) | |
| 10 | g.49610996A>T | CA376716834 | CHAT,SLC18A3 | c.256A>T (p.Thr86Ser) c.-69+1797A>T (n.-69+1797A>T) | |
| 10 | g.49610996_49611003delinsACTCCGGC | CA1908792676 | CHAT,SLC18A3 | c.256_263delinsACTCCGGC (p.Thr86=) c.-69+1797_-69+1804delinsACTCCGGC (n.-69+1797_-69+1804delinsACTCCGGC) | |
| 10 | g.49610997C>A | CA376716836 | CHAT,SLC18A3 | c.257C>A (p.Thr86Asn) c.-69+1798C>A (n.-69+1798C>A) | |
| 10 | g.49610997C>G | CA376716840 | CHAT,SLC18A3 | c.257C>G (p.Thr86Ser) c.-69+1798C>G (n.-69+1798C>G) | |
| 10 | g.49610997C>T | CA376716839 | CHAT,SLC18A3 | c.257C>T (p.Thr86Ile) c.-69+1798C>T (n.-69+1798C>T) | |
| 10 | g.49610998_49611004del | CA1908792679 | CHAT,SLC18A3 | c.258_264del (p.Pro87MetfsTer?) c.-69+1799_-69+1805del (n.-69+1799_-69+1805del) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49610998T>A | CA469791158 | CHAT,SLC18A3 | c.258T>A (p.Thr86=) c.-69+1799T>A (n.-69+1799T>A) | |
| 10 | g.49610998T>C | CA469791159 | CHAT,SLC18A3 | c.258T>C (p.Thr86=) c.-69+1799T>C (n.-69+1799T>C) | dbSNP gnomAD v4 |
| 10 | g.49610998T>G | CA469791160 | CHAT,SLC18A3 | c.258T>G (p.Thr86=) c.-69+1799T>G (n.-69+1799T>G) | gnomAD v4 |
| 10 | g.49610998T= | CA1908792682 | CHAT,SLC18A3 | c.258T= (p.Thr86=) c.-69+1799T= (n.-69+1799T=) | |
| 10 | g.49610999C>A | CA376716844 | CHAT,SLC18A3 | c.259C>A (p.Pro87Thr) c.-69+1800C>A (n.-69+1800C>A) | |
| 10 | g.49610999C= | CA1908792690 | CHAT,SLC18A3 | c.259C= (p.Pro87=) c.-69+1800C= (n.-69+1800C=) | |
| 10 | g.49610999C>G | CA376716847 | CHAT,SLC18A3 | c.259C>G (p.Pro87Ala) c.-69+1800C>G (n.-69+1800C>G) | |
| 10 | g.49610999C>T | CA376716849 | CHAT,SLC18A3 | c.259C>T (p.Pro87Ser) c.-69+1800C>T (n.-69+1800C>T) | dbSNP |
| 10 | g.49611000C>A | CA376716852 | CHAT,SLC18A3 | c.260C>A (p.Pro87Gln) c.-69+1801C>A (n.-69+1801C>A) | |
| 10 | g.49611000C>G | CA376716854 | CHAT,SLC18A3 | c.260C>G (p.Pro87Arg) c.-69+1801C>G (n.-69+1801C>G) | |
| 10 | g.49611000C>T | CA376716856 | CHAT,SLC18A3 | c.260C>T (p.Pro87Leu) c.-69+1801C>T (n.-69+1801C>T) | gnomAD v4 |
| 10 | g.49611001G>A | CA5496730 | CHAT,SLC18A3 | c.261G>A (p.Pro87=) c.-69+1802G>A (n.-69+1802G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611001G>C | CA469791168 | CHAT,SLC18A3 | c.261G>C (p.Pro87=) c.-69+1802G>C (n.-69+1802G>C) | |
| 10 | g.49611001G= | CA1908792696 | CHAT,SLC18A3 | c.261G= (p.Pro87=) c.-69+1802G= (n.-69+1802G=) | |
| 10 | g.49611001G>T | CA206620892 | CHAT,SLC18A3 | c.261G>T (p.Pro87=) c.-69+1802G>T (n.-69+1802G>T) | dbSNP gnomAD v4 |
| 10 | g.49611002G>A | CA376716864 | CHAT,SLC18A3 | c.262G>A (p.Ala88Thr) c.-69+1803G>A (n.-69+1803G>A) | gnomAD v4 |
| 10 | g.49611002G>C | CA376716868 | CHAT,SLC18A3 | c.262G>C (p.Ala88Pro) c.-69+1803G>C (n.-69+1803G>C) | |
| 10 | g.49611002G>T | CA376716870 | CHAT,SLC18A3 | c.262G>T (p.Ala88Ser) c.-69+1803G>T (n.-69+1803G>T) | |
| 10 | g.49611003C>A | CA376716877 | CHAT,SLC18A3 | c.263C>A (p.Ala88Asp) c.-69+1804C>A (n.-69+1804C>A) | |
| 10 | g.49611003C>G | CA376716881 | CHAT,SLC18A3 | c.263C>G (p.Ala88Gly) c.-69+1804C>G (n.-69+1804C>G) | |
| 10 | g.49611003C>T | CA376716874 | CHAT,SLC18A3 | c.263C>T (p.Ala88Val) c.-69+1804C>T (n.-69+1804C>T) | |
| 10 | g.49611004C>A | CA469791172 | CHAT,SLC18A3 | c.264C>A (p.Ala88=) c.-69+1805C>A (n.-69+1805C>A) | |
| 10 | g.49611004C= | CA1908792707 | CHAT,SLC18A3 | c.264C= (p.Ala88=) c.-69+1805C= (n.-69+1805C=) | |
| 10 | g.49611004C>G | CA5496731 | CHAT,SLC18A3 | c.264C>G (p.Ala88=) c.-69+1805C>G (n.-69+1805C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611004C>T | CA469791171 | CHAT,SLC18A3 | c.264C>T (p.Ala88=) c.-69+1805C>T (n.-69+1805C>T) | |
| 10 | g.49611005A>C | CA376716887 | CHAT,SLC18A3 | c.265A>C (p.Asn89His) c.-69+1806A>C (n.-69+1806A>C) | |
| 10 | g.49611005A>G | CA376716890 | CHAT,SLC18A3 | c.265A>G (p.Asn89Asp) c.-69+1806A>G (n.-69+1806A>G) | |
| 10 | g.49611005A>T | CA376716892 | CHAT,SLC18A3 | c.265A>T (p.Asn89Tyr) c.-69+1806A>T (n.-69+1806A>T) | |
| 10 | g.49611006A= | CA1908792712 | CHAT,SLC18A3 | c.266A= (p.Asn89=) c.-69+1807A= (n.-69+1807A=) | |
| 10 | g.49611006A>C | CA376716894 | CHAT,SLC18A3 | c.266A>C (p.Asn89Thr) c.-69+1807A>C (n.-69+1807A>C) | |
| 10 | g.49611006A>G | CA376716896 | CHAT,SLC18A3 | c.266A>G (p.Asn89Ser) c.-69+1807A>G (n.-69+1807A>G) | dbSNP gnomAD v4 |
| 10 | g.49611006A>T | CA376716899 | CHAT,SLC18A3 | c.266A>T (p.Asn89Ile) c.-69+1807A>T (n.-69+1807A>T) | gnomAD v4 |
| 10 | g.49611007T>A | CA376716910 | CHAT,SLC18A3 | c.267T>A (p.Asn89Lys) c.-69+1808T>A (n.-69+1808T>A) | |
| 10 | g.49611007T>C | CA469791180 | CHAT,SLC18A3 | c.267T>C (p.Asn89=) c.-69+1808T>C (n.-69+1808T>C) | |
| 10 | g.49611007T>G | CA376716912 | CHAT,SLC18A3 | c.267T>G (p.Asn89Lys) c.-69+1808T>G (n.-69+1808T>G) | |
| 10 | g.49611008G>A | CA376716915 | CHAT,SLC18A3 | c.268G>A (p.Ala90Thr) c.-69+1809G>A (n.-69+1809G>A) | gnomAD v4 |
| 10 | g.49611008G>C | CA376716917 | CHAT,SLC18A3 | c.268G>C (p.Ala90Pro) c.-69+1809G>C (n.-69+1809G>C) | |
| 10 | g.49611008G>T | CA376716920 | CHAT,SLC18A3 | c.268G>T (p.Ala90Ser) c.-69+1809G>T (n.-69+1809G>T) | |
| 10 | g.49611009C>A | CA5496732 | CHAT,SLC18A3 | c.269C>A (p.Ala90Asp) c.-69+1810C>A (n.-69+1810C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611009C= | CA1908792714 | CHAT,SLC18A3 | c.269C= (p.Ala90=) c.-69+1810C= (n.-69+1810C=) | |
| 10 | g.49611009C>G | CA376716925 | CHAT,SLC18A3 | c.269C>G (p.Ala90Gly) c.-69+1810C>G (n.-69+1810C>G) | |
| 10 | g.49611009C>T | CA376716923 | CHAT,SLC18A3 | c.269C>T (p.Ala90Val) c.-69+1810C>T (n.-69+1810C>T) | gnomAD v4 COSMIC |
| 10 | g.49611010C>A | CA469791186 | CHAT,SLC18A3 | c.270C>A (p.Ala90=) c.-69+1811C>A (n.-69+1811C>A) | |
| 10 | g.49611010C>G | CA469791188 | CHAT,SLC18A3 | c.270C>G (p.Ala90=) c.-69+1811C>G (n.-69+1811C>G) | gnomAD v4 |
| 10 | g.49611010C>T | CA469791189 | CHAT,SLC18A3 | c.270C>T (p.Ala90=) c.-69+1811C>T (n.-69+1811C>T) | gnomAD v4 |
| 10 | g.49611011A= | CA1908792715 | CHAT,SLC18A3 | c.271A= (p.Ser91=) c.-69+1812A= (n.-69+1812A=) | |
| 10 | g.49611011A>C | CA376716929 | CHAT,SLC18A3 | c.271A>C (p.Ser91Arg) c.-69+1812A>C (n.-69+1812A>C) | |
| 10 | g.49611011A>G | CA5496733 | CHAT,SLC18A3 | c.271A>G (p.Ser91Gly) c.-69+1812A>G (n.-69+1812A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611011A>T | CA376716935 | CHAT,SLC18A3 | c.271A>T (p.Ser91Cys) c.-69+1812A>T (n.-69+1812A>T) | |
| 10 | g.49611012G>A | CA376716938 | CHAT,SLC18A3 | c.272G>A (p.Ser91Asn) c.-69+1813G>A (n.-69+1813G>A) | gnomAD v4 |
| 10 | g.49611012G>C | CA376716941 | CHAT,SLC18A3 | c.272G>C (p.Ser91Thr) c.-69+1813G>C (n.-69+1813G>C) | |
| 10 | g.49611012G>T | CA376716943 | CHAT,SLC18A3 | c.272G>T (p.Ser91Ile) c.-69+1813G>T (n.-69+1813G>T) | |
| 10 | g.49611013C>A | CA376716945 | CHAT,SLC18A3 | c.273C>A (p.Ser91Arg) c.-69+1814C>A (n.-69+1814C>A) | gnomAD v4 |
| 10 | g.49611013C= | CA1908792718 | CHAT,SLC18A3 | c.273C= (p.Ser91=) c.-69+1814C= (n.-69+1814C=) | |
| 10 | g.49611013C>G | CA376716949 | CHAT,SLC18A3 | c.273C>G (p.Ser91Arg) c.-69+1814C>G (n.-69+1814C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611013C>T | CA469791192 | CHAT,SLC18A3 | c.273C>T (p.Ser91=) c.-69+1814C>T (n.-69+1814C>T) | |
| 10 | g.49611014G>A | CA5496734 | CHAT,SLC18A3 | c.274G>A (p.Ala92Thr) c.-69+1815G>A (n.-69+1815G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.49611014G>C | CA376716952 | CHAT,SLC18A3 | c.274G>C (p.Ala92Pro) c.-69+1815G>C (n.-69+1815G>C) | gnomAD v4 COSMIC |
| 10 | g.49611014G= | CA1908792723 | CHAT,SLC18A3 | c.274G= (p.Ala92=) c.-69+1815G= (n.-69+1815G=) | |
| 10 | g.49611014G>T | CA206620902 | CHAT,SLC18A3 | c.274G>T (p.Ala92Ser) c.-69+1815G>T (n.-69+1815G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611015C>A | CA376716960 | CHAT,SLC18A3 | c.275C>A (p.Ala92Asp) c.-69+1816C>A (n.-69+1816C>A) | |
| 10 | g.49611015C>G | CA376716962 | CHAT,SLC18A3 | c.275C>G (p.Ala92Gly) c.-69+1816C>G (n.-69+1816C>G) | |
| 10 | g.49611015C>T | CA376716965 | CHAT,SLC18A3 | c.275C>T (p.Ala92Val) c.-69+1816C>T (n.-69+1816C>T) | |
| 10 | g.49611016C>A | CA469791198 | CHAT,SLC18A3 | c.276C>A (p.Ala92=) c.-69+1817C>A (n.-69+1817C>A) | |
| 10 | g.49611016C>G | CA469791196 | CHAT,SLC18A3 | c.276C>G (p.Ala92=) c.-69+1817C>G (n.-69+1817C>G) | |
| 10 | g.49611016C>T | CA469791197 | CHAT,SLC18A3 | c.276C>T (p.Ala92=) c.-69+1817C>T (n.-69+1817C>T) | |
| 10 | g.49611017T>A | CA376716972 | CHAT,SLC18A3 | c.277T>A (p.Tyr93Asn) c.-69+1818T>A (n.-69+1818T>A) | |
| 10 | g.49611017T>C | CA206620905 | CHAT,SLC18A3 | c.277T>C (p.Tyr93His) c.-69+1818T>C (n.-69+1818T>C) | dbSNP |
| 10 | g.49611017T>G | CA376716968 | CHAT,SLC18A3 | c.277T>G (p.Tyr93Asp) c.-69+1818T>G (n.-69+1818T>G) | |
| 10 | g.49611017T= | CA1908792731 | CHAT,SLC18A3 | c.277T= (p.Tyr93=) c.-69+1818T= (n.-69+1818T=) | |
| 10 | g.49611018A>C | CA376716980 | CHAT,SLC18A3 | c.278A>C (p.Tyr93Ser) c.-69+1819A>C (n.-69+1819A>C) | |
| 10 | g.49611018A>G | CA376716975 | CHAT,SLC18A3 | c.278A>G (p.Tyr93Cys) c.-69+1819A>G (n.-69+1819A>G) | gnomAD v4 |
| 10 | g.49611018A>T | CA376716982 | CHAT,SLC18A3 | c.278A>T (p.Tyr93Phe) c.-69+1819A>T (n.-69+1819A>T) | |
| 10 | g.49611019C>A | CA376716986 | CHAT,SLC18A3 | c.279C>A (p.Tyr93Ter) c.-69+1820C>A (n.-69+1820C>A) | gnomAD v4 |
| 10 | g.49611019C>G | CA376716989 | CHAT,SLC18A3 | c.279C>G (p.Tyr93Ter) c.-69+1820C>G (n.-69+1820C>G) | |
| 10 | g.49611019C>T | CA469791201 | CHAT,SLC18A3 | c.279C>T (p.Tyr93=) c.-69+1820C>T (n.-69+1820C>T) | ClinVar |
| 10 | g.49611020A= | CA1908792732 | CHAT,SLC18A3 | c.280A= (p.Thr94=) c.-69+1821A= (n.-69+1821A=) | |
| 10 | g.49611020A>C | CA376716990 | CHAT,SLC18A3 | c.280A>C (p.Thr94Pro) c.-69+1821A>C (n.-69+1821A>C) | |
| 10 | g.49611020A>G | CA376716991 | CHAT,SLC18A3 | c.280A>G (p.Thr94Ala) c.-69+1821A>G (n.-69+1821A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611020A>T | CA376716992 | CHAT,SLC18A3 | c.280A>T (p.Thr94Ser) c.-69+1821A>T (n.-69+1821A>T) | |
| 10 | g.49611021C>A | CA5496735 | CHAT,SLC18A3 | c.281C>A (p.Thr94Lys) c.-69+1822C>A (n.-69+1822C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611021C= | CA1908792733 | CHAT,SLC18A3 | c.281C= (p.Thr94=) c.-69+1822C= (n.-69+1822C=) | |
| 10 | g.49611021C>G | CA376716994 | CHAT,SLC18A3 | c.281C>G (p.Thr94Arg) c.-69+1822C>G (n.-69+1822C>G) | |
| 10 | g.49611021C>T | CA376716996 | CHAT,SLC18A3 | c.281C>T (p.Thr94Met) c.-69+1822C>T (n.-69+1822C>T) | dbSNP COSMIC |
| 10 | g.49611022G>A | CA206620909 | CHAT,SLC18A3 | c.282G>A (p.Thr94=) c.-69+1823G>A (n.-69+1823G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.49611022G>C | CA469791207 | CHAT,SLC18A3 | c.282G>C (p.Thr94=) c.-69+1823G>C (n.-69+1823G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611022G= | CA1908792735 | CHAT,SLC18A3 | c.282G= (p.Thr94=) c.-69+1823G= (n.-69+1823G=) | |
| 10 | g.49611022G>T | CA469791206 | CHAT,SLC18A3 | c.282G>T (p.Thr94=) c.-69+1823G>T (n.-69+1823G>T) | gnomAD v4 COSMIC |
| 10 | g.49611023G>A | CA376716997 | CHAT,SLC18A3 | c.283G>A (p.Ala95Thr) c.-69+1824G>A (n.-69+1824G>A) | gnomAD v4 COSMIC |
| 10 | g.49611023G>C | CA376716998 | CHAT,SLC18A3 | c.283G>C (p.Ala95Pro) c.-69+1824G>C (n.-69+1824G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611023G= | CA1908792738 | CHAT,SLC18A3 | c.283G= (p.Ala95=) c.-69+1824G= (n.-69+1824G=) | |
| 10 | g.49611023G>T | CA376717000 | CHAT,SLC18A3 | c.283G>T (p.Ala95Ser) c.-69+1824G>T (n.-69+1824G>T) | |
| 10 | g.49611024C>A | CA376717011 | CHAT,SLC18A3 | c.284C>A (p.Ala95Asp) c.-69+1825C>A (n.-69+1825C>A) | gnomAD v4 |
| 10 | g.49611024C>G | CA376717003 | CHAT,SLC18A3 | c.284C>G (p.Ala95Gly) c.-69+1825C>G (n.-69+1825C>G) | |
| 10 | g.49611024C>T | CA376717005 | CHAT,SLC18A3 | c.284C>T (p.Ala95Val) c.-69+1825C>T (n.-69+1825C>T) | COSMIC |
| 10 | g.49611025C>A | CA5496736 | CHAT,SLC18A3 | c.285C>A (p.Ala95=) c.-69+1826C>A (n.-69+1826C>A) | dbSNP ExAC gnomAD v2 |
| 10 | g.49611025C= | CA1908792742 | CHAT,SLC18A3 | c.285C= (p.Ala95=) c.-69+1826C= (n.-69+1826C=) | |
| 10 | g.49611025C>G | CA469791211 | CHAT,SLC18A3 | c.285C>G (p.Ala95=) c.-69+1826C>G (n.-69+1826C>G) | |
| 10 | g.49611025C>T | CA469791210 | CHAT,SLC18A3 | c.285C>T (p.Ala95=) c.-69+1826C>T (n.-69+1826C>T) | gnomAD v4 |
| 10 | g.49611026A= | CA1908792744 | CHAT,SLC18A3 | c.286A= (p.Asn96=) c.-69+1827A= (n.-69+1827A=) | |
| 10 | g.49611026A>C | CA376717014 | CHAT,SLC18A3 | c.286A>C (p.Asn96His) c.-69+1827A>C (n.-69+1827A>C) | |
| 10 | g.49611026A>G | CA376717015 | CHAT,SLC18A3 | c.286A>G (p.Asn96Asp) c.-69+1827A>G (n.-69+1827A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611026A>T | CA376717017 | CHAT,SLC18A3 | c.286A>T (p.Asn96Tyr) c.-69+1827A>T (n.-69+1827A>T) | gnomAD v4 |
| 10 | g.49611027A>C | CA376717020 | CHAT,SLC18A3 | c.287A>C (p.Asn96Thr) c.-69+1828A>C (n.-69+1828A>C) | |
| 10 | g.49611027A>G | CA376717021 | CHAT,SLC18A3 | c.287A>G (p.Asn96Ser) c.-69+1828A>G (n.-69+1828A>G) | |
| 10 | g.49611027A>T | CA376717022 | CHAT,SLC18A3 | c.287A>T (p.Asn96Ile) c.-69+1828A>T (n.-69+1828A>T) | |
| 10 | g.49611028C>A | CA376717025 | CHAT,SLC18A3 | c.288C>A (p.Asn96Lys) c.-69+1829C>A (n.-69+1829C>A) | |
| 10 | g.49611028C>G | CA376717030 | CHAT,SLC18A3 | c.288C>G (p.Asn96Lys) c.-69+1829C>G (n.-69+1829C>G) | |
| 10 | g.49611028C>T | CA469791216 | CHAT,SLC18A3 | c.288C>T (p.Asn96=) c.-69+1829C>T (n.-69+1829C>T) | ClinVar gnomAD v4 |
| 10 | g.49611030_49611058del | CA2609114943 | CHAT,SLC18A3 | c.290_318del (p.Thr97SerfsTer?) c.-69+1831_-69+1859del (n.-69+1831_-69+1859del) | gnomAD v4 |
| 10 | g.49611029A= | CA1908792746 | CHAT,SLC18A3 | c.289A= (p.Thr97=) c.-69+1830A= (n.-69+1830A=) | |
| 10 | g.49611029A>C | CA376717032 | CHAT,SLC18A3 | c.289A>C (p.Thr97Pro) c.-69+1830A>C (n.-69+1830A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611029A>G | CA376717034 | CHAT,SLC18A3 | c.289A>G (p.Thr97Ala) c.-69+1830A>G (n.-69+1830A>G) | gnomAD v4 |
| 10 | g.49611029A>T | CA376717037 | CHAT,SLC18A3 | c.289A>T (p.Thr97Ser) c.-69+1830A>T (n.-69+1830A>T) | gnomAD v4 |
| 10 | g.49611030C>A | CA376717043 | CHAT,SLC18A3 | c.290C>A (p.Thr97Asn) c.-69+1831C>A (n.-69+1831C>A) | |
| 10 | g.49611030C= | CA1908792749 | CHAT,SLC18A3 | c.290C= (p.Thr97=) c.-69+1831C= (n.-69+1831C=) | |
| 10 | g.49611030C>G | CA376717041 | CHAT,SLC18A3 | c.290C>G (p.Thr97Ser) c.-69+1831C>G (n.-69+1831C>G) | |
| 10 | g.49611030C>T | CA5496737 | CHAT,SLC18A3 | c.290C>T (p.Thr97Ile) c.-69+1831C>T (n.-69+1831C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611031C>A | CA469791223 | CHAT,SLC18A3 | c.291C>A (p.Thr97=) c.-69+1832C>A (n.-69+1832C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611031C= | CA1908792753 | CHAT,SLC18A3 | c.291C= (p.Thr97=) c.-69+1832C= (n.-69+1832C=) | |
| 10 | g.49611031C>G | CA469791222 | CHAT,SLC18A3 | c.291C>G (p.Thr97=) c.-69+1832C>G (n.-69+1832C>G) | |
| 10 | g.49611031C>T | CA469791221 | CHAT,SLC18A3 | c.291C>T (p.Thr97=) c.-69+1832C>T (n.-69+1832C>T) | dbSNP gnomAD v4 |
| 10 | g.49611032T>A | CA376718131 | CHAT,SLC18A3 | c.292T>A (p.Ser98Thr) c.-69+1833T>A (n.-69+1833T>A) | |
| 10 | g.49611032T>C | CA376718126 | CHAT,SLC18A3 | c.292T>C (p.Ser98Pro) c.-69+1833T>C (n.-69+1833T>C) | dbSNP gnomAD v4 |
| 10 | g.49611032T>G | CA376718129 | CHAT,SLC18A3 | c.292T>G (p.Ser98Ala) c.-69+1833T>G (n.-69+1833T>G) | |
| 10 | g.49611032T= | CA1908792760 | CHAT,SLC18A3 | c.292T= (p.Ser98=) c.-69+1833T= (n.-69+1833T=) | |
| 10 | g.49611033C>A | CA376718134 | CHAT,SLC18A3 | c.293C>A (p.Ser98Ter) c.-69+1834C>A (n.-69+1834C>A) | |
| 10 | g.49611033C= | CA1908792763 | CHAT,SLC18A3 | c.293C= (p.Ser98=) c.-69+1834C= (n.-69+1834C=) | |
| 10 | g.49611033C>G | CA376718137 | CHAT,SLC18A3 | c.293C>G (p.Ser98Trp) c.-69+1834C>G (n.-69+1834C>G) | |
| 10 | g.49611033C>T | CA376718139 | CHAT,SLC18A3 | c.293C>T (p.Ser98Leu) c.-69+1834C>T (n.-69+1834C>T) | dbSNP |
| 10 | g.49611034G>A | CA469791042 | CHAT,SLC18A3 | c.294G>A (p.Ser98=) c.-69+1835G>A (n.-69+1835G>A) | gnomAD v4 |
| 10 | g.49611034G>C | CA469791041 | CHAT,SLC18A3 | c.294G>C (p.Ser98=) c.-69+1835G>C (n.-69+1835G>C) | |
| 10 | g.49611034G= | CA1908792768 | CHAT,SLC18A3 | c.294G= (p.Ser98=) c.-69+1835G= (n.-69+1835G=) | |
| 10 | g.49611034G>T | CA469791040 | CHAT,SLC18A3 | c.294G>T (p.Ser98=) c.-69+1835G>T (n.-69+1835G>T) | dbSNP gnomAD v2 gnomAD v4 |