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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.49610834A>C | CA469790929 | CHAT,SLC18A3 | c.94A>C (p.Arg32=) c.-69+1635A>C (n.-69+1635A>C) | |
| 10 | g.49610834A>G | CA376715711 | CHAT,SLC18A3 | c.94A>G (p.Arg32Gly) c.-69+1635A>G (n.-69+1635A>G) | |
| 10 | g.49610834A>T | CA376715714 | CHAT,SLC18A3 | c.94A>T (p.Arg32Trp) c.-69+1635A>T (n.-69+1635A>T) | gnomAD v4 |
| 10 | g.49610835G>A | CA5496690 | CHAT,SLC18A3 | c.95G>A (p.Arg32Lys) c.-69+1636G>A (n.-69+1636G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49610835G>C | CA376715726 | CHAT,SLC18A3 | c.95G>C (p.Arg32Thr) c.-69+1636G>C (n.-69+1636G>C) | |
| 10 | g.49610835G= | CA1908792248 | CHAT,SLC18A3 | c.95G= (p.Arg32=) c.-69+1636G= (n.-69+1636G=) | |
| 10 | g.49610835G>T | CA376715718 | CHAT,SLC18A3 | c.95G>T (p.Arg32Met) c.-69+1636G>T (n.-69+1636G>T) | |
| 10 | g.49610836G>A | CA469790932 | CHAT,SLC18A3 | c.96G>A (p.Arg32=) c.-69+1637G>A (n.-69+1637G>A) | |
| 10 | g.49610836G>C | CA376715730 | CHAT,SLC18A3 | c.96G>C (p.Arg32Ser) c.-69+1637G>C (n.-69+1637G>C) | |
| 10 | g.49610836G>T | CA376715733 | CHAT,SLC18A3 | c.96G>T (p.Arg32Ser) c.-69+1637G>T (n.-69+1637G>T) | |
| 10 | g.49610837C>A | CA376715737 | CHAT,SLC18A3 | c.97C>A (p.Arg33Ser) c.-69+1638C>A (n.-69+1638C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49610837C= | CA1908792251 | CHAT,SLC18A3 | c.97C= (p.Arg33=) c.-69+1638C= (n.-69+1638C=) | |
| 10 | g.49610837C>G | CA5496691 | CHAT,SLC18A3 | c.97C>G (p.Arg33Gly) c.-69+1638C>G (n.-69+1638C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49610837C>T | CA376715746 | CHAT,SLC18A3 | c.97C>T (p.Arg33Cys) c.-69+1638C>T (n.-69+1638C>T) | gnomAD v4 |
| 10 | g.49610838G>A | CA376715749 | CHAT,SLC18A3 | c.98G>A (p.Arg33His) c.-69+1639G>A (n.-69+1639G>A) | dbSNP |
| 10 | g.49610838G>C | CA376715752 | CHAT,SLC18A3 | c.98G>C (p.Arg33Pro) c.-69+1639G>C (n.-69+1639G>C) | |
| 10 | g.49610838G= | CA1908792256 | CHAT,SLC18A3 | c.98G= (p.Arg33=) c.-69+1639G= (n.-69+1639G=) | |
| 10 | g.49610838G>T | CA376715754 | CHAT,SLC18A3 | c.98G>T (p.Arg33Leu) c.-69+1639G>T (n.-69+1639G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610838_49610839delinsGC | CA1908792259 | CHAT,SLC18A3 | c.98_99delinsGC (p.Arg33=) c.-69+1639_-69+1640delinsGC (n.-69+1639_-69+1640delinsGC) | |
| 10 | g.49610839C>A | CA469790934 | CHAT,SLC18A3 | c.99C>A (p.Arg33=) c.-69+1640C>A (n.-69+1640C>A) | gnomAD v4 |
| 10 | g.49610839C= | CA1908792260 | CHAT,SLC18A3 | c.99C= (p.Arg33=) c.-69+1640C= (n.-69+1640C=) | |
| 10 | g.49610839C>G | CA469790935 | CHAT,SLC18A3 | c.99C>G (p.Arg33=) c.-69+1640C>G (n.-69+1640C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610839C>T | CA469790936 | CHAT,SLC18A3 | c.99C>T (p.Arg33=) c.-69+1640C>T (n.-69+1640C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49610840del | CA928193595 | CHAT,SLC18A3 | c.100del (p.Leu34TrpfsTer23) c.-69+1641del (n.-69+1641del) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49610840C>A | CA376715757 | CHAT,SLC18A3 | c.100C>A (p.Leu34Met) c.-69+1641C>A (n.-69+1641C>A) | |
| 10 | g.49610840C= | CA1908792262 | CHAT,SLC18A3 | c.100C= (p.Leu34=) c.-69+1641C= (n.-69+1641C=) | |
| 10 | g.49610840C>G | CA376715760 | CHAT,SLC18A3 | c.100C>G (p.Leu34Val) c.-69+1641C>G (n.-69+1641C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49610840C>T | CA469790937 | CHAT,SLC18A3 | c.100C>T (p.Leu34=) c.-69+1641C>T (n.-69+1641C>T) | gnomAD v4 |
| 10 | g.49610841T>A | CA376715766 | CHAT,SLC18A3 | c.101T>A (p.Leu34Gln) c.-69+1642T>A (n.-69+1642T>A) | gnomAD v4 |
| 10 | g.49610841T>C | CA376715767 | CHAT,SLC18A3 | c.101T>C (p.Leu34Pro) c.-69+1642T>C (n.-69+1642T>C) | gnomAD v4 |
| 10 | g.49610841T>G | CA376715769 | CHAT,SLC18A3 | c.101T>G (p.Leu34Arg) c.-69+1642T>G (n.-69+1642T>G) | |
| 10 | g.49610842G>A | CA469790939 | CHAT,SLC18A3 | c.102G>A (p.Leu34=) c.-69+1643G>A (n.-69+1643G>A) | dbSNP gnomAD v4 |
| 10 | g.49610842G>C | CA5496692 | CHAT,SLC18A3 | c.102G>C (p.Leu34=) c.-69+1643G>C (n.-69+1643G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49610842G= | CA1908792267 | CHAT,SLC18A3 | c.102G= (p.Leu34=) c.-69+1643G= (n.-69+1643G=) | |
| 10 | g.49610842G>T | CA469790940 | CHAT,SLC18A3 | c.102G>T (p.Leu34=) c.-69+1643G>T (n.-69+1643G>T) | COSMIC |
| 10 | g.49610843G>A | CA376715774 | CHAT,SLC18A3 | c.103G>A (p.Val35Met) c.-69+1644G>A (n.-69+1644G>A) | dbSNP gnomAD v2 |
| 10 | g.49610843G>C | CA376715775 | CHAT,SLC18A3 | c.103G>C (p.Val35Leu) c.-69+1644G>C (n.-69+1644G>C) | |
| 10 | g.49610843G= | CA1908792268 | CHAT,SLC18A3 | c.103G= (p.Val35=) c.-69+1644G= (n.-69+1644G=) | |
| 10 | g.49610843G>T | CA376715779 | CHAT,SLC18A3 | c.103G>T (p.Val35Leu) c.-69+1644G>T (n.-69+1644G>T) | |
| 10 | g.49610844T>A | CA376715781 | CHAT,SLC18A3 | c.104T>A (p.Val35Glu) c.-69+1645T>A (n.-69+1645T>A) | |
| 10 | g.49610844T>C | CA376715783 | CHAT,SLC18A3 | c.104T>C (p.Val35Ala) c.-69+1645T>C (n.-69+1645T>C) | |
| 10 | g.49610844T>G | CA376715788 | CHAT,SLC18A3 | c.104T>G (p.Val35Gly) c.-69+1645T>G (n.-69+1645T>G) | |
| 10 | g.49610845G>A | CA469790943 | CHAT,SLC18A3 | c.105G>A (p.Val35=) c.-69+1646G>A (n.-69+1646G>A) | |
| 10 | g.49610845G>C | CA469790944 | CHAT,SLC18A3 | c.105G>C (p.Val35=) c.-69+1646G>C (n.-69+1646G>C) | |
| 10 | g.49610845G= | CA1908792271 | CHAT,SLC18A3 | c.105G= (p.Val35=) c.-69+1646G= (n.-69+1646G=) | |
| 10 | g.49610845G>T | CA469790945 | CHAT,SLC18A3 | c.105G>T (p.Val35=) c.-69+1646G>T (n.-69+1646G>T) | |
| 10 | g.49610846C>A | CA376715793 | CHAT,SLC18A3 | c.106C>A (p.Leu36Ile) c.-69+1647C>A (n.-69+1647C>A) | |
| 10 | g.49610846C= | CA1908792272 | CHAT,SLC18A3 | c.106C= (p.Leu36=) c.-69+1647C= (n.-69+1647C=) | |
| 10 | g.49610846C>G | CA376715796 | CHAT,SLC18A3 | c.106C>G (p.Leu36Val) c.-69+1647C>G (n.-69+1647C>G) | |
| 10 | g.49610846C>T | CA376715798 | CHAT,SLC18A3 | c.106C>T (p.Leu36Phe) c.-69+1647C>T (n.-69+1647C>T) | dbSNP |
| 10 | g.49610847_49610848insCCGATCT | CA206620756 | CHAT,SLC18A3 | c.107_108insCCGATCT (p.Val37ArgfsTer?) c.-69+1648_-69+1649insCCGATCT (n.-69+1648_-69+1649insCCGATCT) | dbSNP |
| 10 | g.49610847T>A | CA376715801 | CHAT,SLC18A3 | c.107T>A (p.Leu36His) c.-69+1648T>A (n.-69+1648T>A) | |
| 10 | g.49610847T>C | CA376715804 | CHAT,SLC18A3 | c.107T>C (p.Leu36Pro) c.-69+1648T>C (n.-69+1648T>C) | gnomAD v4 |
| 10 | g.49610847T>G | CA376715807 | CHAT,SLC18A3 | c.107T>G (p.Leu36Arg) c.-69+1648T>G (n.-69+1648T>G) | |
| 10 | g.49610848T>A | CA469790947 | CHAT,SLC18A3 | c.108T>A (p.Leu36=) c.-69+1649T>A (n.-69+1649T>A) | ClinVar |
| 10 | g.49610848T>C | CA469790949 | CHAT,SLC18A3 | c.108T>C (p.Leu36=) c.-69+1649T>C (n.-69+1649T>C) | |
| 10 | g.49610848T>G | CA469790948 | CHAT,SLC18A3 | c.108T>G (p.Leu36=) c.-69+1649T>G (n.-69+1649T>G) | |
| 10 | g.49610849G>A | CA376715816 | CHAT,SLC18A3 | c.109G>A (p.Val37Ile) c.-69+1650G>A (n.-69+1650G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49610849G>C | CA376715814 | CHAT,SLC18A3 | c.109G>C (p.Val37Leu) c.-69+1650G>C (n.-69+1650G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610849G= | CA1908792274 | CHAT,SLC18A3 | c.109G= (p.Val37=) c.-69+1650G= (n.-69+1650G=) | |
| 10 | g.49610849G>T | CA376715811 | CHAT,SLC18A3 | c.109G>T (p.Val37Phe) c.-69+1650G>T (n.-69+1650G>T) | gnomAD v4 |
| 10 | g.49610850T>A | CA376715821 | CHAT,SLC18A3 | c.110T>A (p.Val37Asp) c.-69+1651T>A (n.-69+1651T>A) | |
| 10 | g.49610850T>C | CA376715827 | CHAT,SLC18A3 | c.110T>C (p.Val37Ala) c.-69+1651T>C (n.-69+1651T>C) | ClinVar dbSNP |
| 10 | g.49610850T>G | CA376715824 | CHAT,SLC18A3 | c.110T>G (p.Val37Gly) c.-69+1651T>G (n.-69+1651T>G) | |
| 10 | g.49610851T>A | CA469790953 | CHAT,SLC18A3 | c.111T>A (p.Val37=) c.-69+1652T>A (n.-69+1652T>A) | |
| 10 | g.49610851T>C | CA469790951 | CHAT,SLC18A3 | c.111T>C (p.Val37=) c.-69+1652T>C (n.-69+1652T>C) | COSMIC |
| 10 | g.49610851T>G | CA469790952 | CHAT,SLC18A3 | c.111T>G (p.Val37=) c.-69+1652T>G (n.-69+1652T>G) | |
| 10 | g.49610852A= | CA1908792279 | CHAT,SLC18A3 | c.112A= (p.Ile38=) c.-69+1653A= (n.-69+1653A=) | |
| 10 | g.49610852A>C | CA376715830 | CHAT,SLC18A3 | c.112A>C (p.Ile38Leu) c.-69+1653A>C (n.-69+1653A>C) | |
| 10 | g.49610852A>G | CA376715836 | CHAT,SLC18A3 | c.112A>G (p.Ile38Val) c.-69+1653A>G (n.-69+1653A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49610852A>T | CA376715833 | CHAT,SLC18A3 | c.112A>T (p.Ile38Phe) c.-69+1653A>T (n.-69+1653A>T) | ClinVar dbSNP |
| 10 | g.49610853T>A | CA376715840 | CHAT,SLC18A3 | c.113T>A (p.Ile38Asn) c.-69+1654T>A (n.-69+1654T>A) | |
| 10 | g.49610853T>C | CA376715841 | CHAT,SLC18A3 | c.113T>C (p.Ile38Thr) c.-69+1654T>C (n.-69+1654T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49610853T>G | CA376715844 | CHAT,SLC18A3 | c.113T>G (p.Ile38Ser) c.-69+1654T>G (n.-69+1654T>G) | |
| 10 | g.49610853T= | CA1908792284 | CHAT,SLC18A3 | c.113T= (p.Ile38=) c.-69+1654T= (n.-69+1654T=) | |
| 10 | g.49610854C>A | CA469790956 | CHAT,SLC18A3 | c.114C>A (p.Ile38=) c.-69+1655C>A (n.-69+1655C>A) | |
| 10 | g.49610854C= | CA1908792288 | CHAT,SLC18A3 | c.114C= (p.Ile38=) c.-69+1655C= (n.-69+1655C=) | |
| 10 | g.49610854C>G | CA376715847 | CHAT,SLC18A3 | c.114C>G (p.Ile38Met) c.-69+1655C>G (n.-69+1655C>G) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.49610854C>T | CA469790955 | CHAT,SLC18A3 | c.114C>T (p.Ile38=) c.-69+1655C>T (n.-69+1655C>T) | ClinVar dbSNP COSMIC |
| 10 | g.49610855G>A | CA376715851 | CHAT,SLC18A3 | c.115G>A (p.Val39Met) c.-69+1656G>A (n.-69+1656G>A) | |
| 10 | g.49610855G>C | CA376715853 | CHAT,SLC18A3 | c.115G>C (p.Val39Leu) c.-69+1656G>C (n.-69+1656G>C) | |
| 10 | g.49610855G>T | CA376715857 | CHAT,SLC18A3 | c.115G>T (p.Val39Leu) c.-69+1656G>T (n.-69+1656G>T) | gnomAD v4 |
| 10 | g.49610856T>A | CA376715861 | CHAT,SLC18A3 | c.116T>A (p.Val39Glu) c.-69+1657T>A (n.-69+1657T>A) | |
| 10 | g.49610856T>C | CA376715864 | CHAT,SLC18A3 | c.116T>C (p.Val39Ala) c.-69+1657T>C (n.-69+1657T>C) | |
| 10 | g.49610856T>G | CA376715867 | CHAT,SLC18A3 | c.116T>G (p.Val39Gly) c.-69+1657T>G (n.-69+1657T>G) | |
| 10 | g.49610857G>A | CA469790959 | CHAT,SLC18A3 | c.117G>A (p.Val39=) c.-69+1658G>A (n.-69+1658G>A) | |
| 10 | g.49610857G>C | CA469790958 | CHAT,SLC18A3 | c.117G>C (p.Val39=) c.-69+1658G>C (n.-69+1658G>C) | |
| 10 | g.49610857G>T | CA469790960 | CHAT,SLC18A3 | c.117G>T (p.Val39=) c.-69+1658G>T (n.-69+1658G>T) | |
| 10 | g.49610858T>A | CA376715871 | CHAT,SLC18A3 | c.118T>A (p.Cys40Ser) c.-69+1659T>A (n.-69+1659T>A) | |
| 10 | g.49610858T>C | CA376715873 | CHAT,SLC18A3 | c.118T>C (p.Cys40Arg) c.-69+1659T>C (n.-69+1659T>C) | gnomAD v4 |
| 10 | g.49610858T>G | CA376715875 | CHAT,SLC18A3 | c.118T>G (p.Cys40Gly) c.-69+1659T>G (n.-69+1659T>G) | gnomAD v4 |
| 10 | g.49610859G>A | CA376715880 | CHAT,SLC18A3 | c.119G>A (p.Cys40Tyr) c.-69+1660G>A (n.-69+1660G>A) | |
| 10 | g.49610859G>C | CA376715884 | CHAT,SLC18A3 | c.119G>C (p.Cys40Ser) c.-69+1660G>C (n.-69+1660G>C) | |
| 10 | g.49610859G>T | CA376715883 | CHAT,SLC18A3 | c.119G>T (p.Cys40Phe) c.-69+1660G>T (n.-69+1660G>T) | |
| 10 | g.49610860C>A | CA376715888 | CHAT,SLC18A3 | c.120C>A (p.Cys40Ter) c.-69+1661C>A (n.-69+1661C>A) | |
| 10 | g.49610860C= | CA1908792294 | CHAT,SLC18A3 | c.120C= (p.Cys40=) c.-69+1661C= (n.-69+1661C=) | |
| 10 | g.49610860C>G | CA376715891 | CHAT,SLC18A3 | c.120C>G (p.Cys40Trp) c.-69+1661C>G (n.-69+1661C>G) | |
| 10 | g.49610860C>T | CA469790965 | CHAT,SLC18A3 | c.120C>T (p.Cys40=) c.-69+1661C>T (n.-69+1661C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.49610861G>A | CA376715898 | CHAT,SLC18A3 | c.121G>A (p.Val41Met) c.-69+1662G>A (n.-69+1662G>A) | gnomAD v4 |
| 10 | g.49610861G>C | CA376715901 | CHAT,SLC18A3 | c.121G>C (p.Val41Leu) c.-69+1662G>C (n.-69+1662G>C) | |
| 10 | g.49610861G= | CA1908792301 | CHAT,SLC18A3 | c.121G= (p.Val41=) c.-69+1662G= (n.-69+1662G=) | |
| 10 | g.49610861G>T | CA5496693 | CHAT,SLC18A3 | c.121G>T (p.Val41Leu) c.-69+1662G>T (n.-69+1662G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49610861_49610862insATCTG | CA206620760 | CHAT,SLC18A3 | c.121_122insATCTG (p.Val41AspfsTer18) c.-69+1662_-69+1663insATCTG (n.-69+1662_-69+1663insATCTG) | dbSNP |
| 10 | g.49610862T>A | CA376715908 | CHAT,SLC18A3 | c.122T>A (p.Val41Glu) c.-69+1663T>A (n.-69+1663T>A) | |
| 10 | g.49610862T>C | CA376715910 | CHAT,SLC18A3 | c.122T>C (p.Val41Ala) c.-69+1663T>C (n.-69+1663T>C) | |
| 10 | g.49610862T>G | CA376715913 | CHAT,SLC18A3 | c.122T>G (p.Val41Gly) c.-69+1663T>G (n.-69+1663T>G) | |
| 10 | g.49610863G>A | CA469790967 | CHAT,SLC18A3 | c.123G>A (p.Val41=) c.-69+1664G>A (n.-69+1664G>A) | gnomAD v4 |
| 10 | g.49610863G>C | CA469790968 | CHAT,SLC18A3 | c.123G>C (p.Val41=) c.-69+1664G>C (n.-69+1664G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49610863G= | CA1908792305 | CHAT,SLC18A3 | c.123G= (p.Val41=) c.-69+1664G= (n.-69+1664G=) | |
| 10 | g.49610863G>T | CA469790970 | CHAT,SLC18A3 | c.123G>T (p.Val41=) c.-69+1664G>T (n.-69+1664G>T) | |
| 10 | g.49610864G>A | CA376715922 | CHAT,SLC18A3 | c.124G>A (p.Ala42Thr) c.-69+1665G>A (n.-69+1665G>A) | |
| 10 | g.49610864G>C | CA376715920 | CHAT,SLC18A3 | c.124G>C (p.Ala42Pro) c.-69+1665G>C (n.-69+1665G>C) | |
| 10 | g.49610864G>T | CA376715918 | CHAT,SLC18A3 | c.124G>T (p.Ala42Ser) c.-69+1665G>T (n.-69+1665G>T) | |
| 10 | g.49610865C>A | CA376715925 | CHAT,SLC18A3 | c.125C>A (p.Ala42Glu) c.-69+1666C>A (n.-69+1666C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49610865C= | CA1908792309 | CHAT,SLC18A3 | c.125C= (p.Ala42=) c.-69+1666C= (n.-69+1666C=) | |
| 10 | g.49610865C>G | CA376715928 | CHAT,SLC18A3 | c.125C>G (p.Ala42Gly) c.-69+1666C>G (n.-69+1666C>G) | |
| 10 | g.49610865C>T | CA376715931 | CHAT,SLC18A3 | c.125C>T (p.Ala42Val) c.-69+1666C>T (n.-69+1666C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49610866G>A | CA469790971 | CHAT,SLC18A3 | c.126G>A (p.Ala42=) c.-69+1667G>A (n.-69+1667G>A) | gnomAD v4 |
| 10 | g.49610866G>C | CA469790972 | CHAT,SLC18A3 | c.126G>C (p.Ala42=) c.-69+1667G>C (n.-69+1667G>C) | |
| 10 | g.49610866G>T | CA469790973 | CHAT,SLC18A3 | c.126G>T (p.Ala42=) c.-69+1667G>T (n.-69+1667G>T) | COSMIC |
| 10 | g.49610867C>A | CA376715933 | CHAT,SLC18A3 | c.127C>A (p.Leu43Met) c.-69+1668C>A (n.-69+1668C>A) | |
| 10 | g.49610867C>G | CA376715936 | CHAT,SLC18A3 | c.127C>G (p.Leu43Val) c.-69+1668C>G (n.-69+1668C>G) | |
| 10 | g.49610867C>T | CA469790975 | CHAT,SLC18A3 | c.127C>T (p.Leu43=) c.-69+1668C>T (n.-69+1668C>T) | |
| 10 | g.49610868T>A | CA376715942 | CHAT,SLC18A3 | c.128T>A (p.Leu43Gln) c.-69+1669T>A (n.-69+1669T>A) | |
| 10 | g.49610868T>C | CA376715944 | CHAT,SLC18A3 | c.128T>C (p.Leu43Pro) c.-69+1669T>C (n.-69+1669T>C) | |
| 10 | g.49610868T>G | CA376715946 | CHAT,SLC18A3 | c.128T>G (p.Leu43Arg) c.-69+1669T>G (n.-69+1669T>G) | |
| 10 | g.49610869G>A | CA469790976 | CHAT,SLC18A3 | c.129G>A (p.Leu43=) c.-69+1670G>A (n.-69+1670G>A) | |
| 10 | g.49610869G>C | CA5496694 | CHAT,SLC18A3 | c.129G>C (p.Leu43=) c.-69+1670G>C (n.-69+1670G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49610869G= | CA1908792311 | CHAT,SLC18A3 | c.129G= (p.Leu43=) c.-69+1670G= (n.-69+1670G=) | |
| 10 | g.49610869G>T | CA469790977 | CHAT,SLC18A3 | c.129G>T (p.Leu43=) c.-69+1670G>T (n.-69+1670G>T) | |
| 10 | g.49610870T>A | CA376715953 | CHAT,SLC18A3 | c.130T>A (p.Leu44Ile) c.-69+1671T>A (n.-69+1671T>A) | |
| 10 | g.49610870T>C | CA469790979 | CHAT,SLC18A3 | c.130T>C (p.Leu44=) c.-69+1671T>C (n.-69+1671T>C) | |
| 10 | g.49610870T>G | CA376715956 | CHAT,SLC18A3 | c.130T>G (p.Leu44Val) c.-69+1671T>G (n.-69+1671T>G) | |
| 10 | g.49610871T>A | CA376715960 | CHAT,SLC18A3 | c.131T>A (p.Leu44Ter) c.-69+1672T>A (n.-69+1672T>A) | |
| 10 | g.49610871T>C | CA376715964 | CHAT,SLC18A3 | c.131T>C (p.Leu44Ser) c.-69+1672T>C (n.-69+1672T>C) | |
| 10 | g.49610871T>G | CA376715967 | CHAT,SLC18A3 | c.131T>G (p.Leu44Ter) c.-69+1672T>G (n.-69+1672T>G) | |
| 10 | g.49610872A= | CA1908792314 | CHAT,SLC18A3 | c.132A= (p.Leu44=) c.-69+1673A= (n.-69+1673A=) | |
| 10 | g.49610872A>C | CA376715971 | CHAT,SLC18A3 | c.132A>C (p.Leu44Phe) c.-69+1673A>C (n.-69+1673A>C) | |
| 10 | g.49610872A>G | CA469790980 | CHAT,SLC18A3 | c.132A>G (p.Leu44=) c.-69+1673A>G (n.-69+1673A>G) | |
| 10 | g.49610872A>T | CA376715974 | CHAT,SLC18A3 | c.132A>T (p.Leu44Phe) c.-69+1673A>T (n.-69+1673A>T) | |
| 10 | g.49610872dup | CA2609114430 | CHAT,SLC18A3 | c.132dup (p.Leu45ThrfsTer?) c.-69+1673dup (n.-69+1673dup) | gnomAD v4 |
| 10 | g.49610872_49610873insGATCT | CA206620768 | CHAT,SLC18A3 | c.132_133insGATCT (p.Leu45AspfsTer14) c.-69+1673_-69+1674insGATCT (n.-69+1673_-69+1674insGATCT) | dbSNP |
| 10 | g.49610873C>A | CA376715980 | CHAT,SLC18A3 | c.133C>A (p.Leu45Met) c.-69+1674C>A (n.-69+1674C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49610873C= | CA1908792318 | CHAT,SLC18A3 | c.133C= (p.Leu45=) c.-69+1674C= (n.-69+1674C=) | |
| 10 | g.49610873C>G | CA376715982 | CHAT,SLC18A3 | c.133C>G (p.Leu45Val) c.-69+1674C>G (n.-69+1674C>G) | dbSNP gnomAD v4 |
| 10 | g.49610873C>T | CA469790983 | CHAT,SLC18A3 | c.133C>T (p.Leu45=) c.-69+1674C>T (n.-69+1674C>T) | |
| 10 | g.49610874T>A | CA376715987 | CHAT,SLC18A3 | c.134T>A (p.Leu45Gln) c.-69+1675T>A (n.-69+1675T>A) | |
| 10 | g.49610874T>C | CA376715989 | CHAT,SLC18A3 | c.134T>C (p.Leu45Pro) c.-69+1675T>C (n.-69+1675T>C) | |
| 10 | g.49610874T>G | CA376715993 | CHAT,SLC18A3 | c.134T>G (p.Leu45Arg) c.-69+1675T>G (n.-69+1675T>G) | |
| 10 | g.49610875G>A | CA469790985 | CHAT,SLC18A3 | c.135G>A (p.Leu45=) c.-69+1676G>A (n.-69+1676G>A) | gnomAD v4 |
| 10 | g.49610875G>C | CA469790986 | CHAT,SLC18A3 | c.135G>C (p.Leu45=) c.-69+1676G>C (n.-69+1676G>C) | |
| 10 | g.49610875G>T | CA469790988 | CHAT,SLC18A3 | c.135G>T (p.Leu45=) c.-69+1676G>T (n.-69+1676G>T) | |
| 10 | g.49610876G>A | CA206620770 | CHAT,SLC18A3 | c.136G>A (p.Asp46Asn) c.-69+1677G>A (n.-69+1677G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49610876G>C | CA376715997 | CHAT,SLC18A3 | c.136G>C (p.Asp46His) c.-69+1677G>C (n.-69+1677G>C) | |
| 10 | g.49610876G= | CA1908792322 | CHAT,SLC18A3 | c.136G= (p.Asp46=) c.-69+1677G= (n.-69+1677G=) | |
| 10 | g.49610876G>T | CA376716000 | CHAT,SLC18A3 | c.136G>T (p.Asp46Tyr) c.-69+1677G>T (n.-69+1677G>T) | |
| 10 | g.49610877A= | CA1908792327 | CHAT,SLC18A3 | c.137A= (p.Asp46=) c.-69+1678A= (n.-69+1678A=) | |
| 10 | g.49610877A>C | CA376716005 | CHAT,SLC18A3 | c.137A>C (p.Asp46Ala) c.-69+1678A>C (n.-69+1678A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610877A>G | CA376716009 | CHAT,SLC18A3 | c.137A>G (p.Asp46Gly) c.-69+1678A>G (n.-69+1678A>G) | ClinVar dbSNP |
| 10 | g.49610877A>T | CA376716012 | CHAT,SLC18A3 | c.137A>T (p.Asp46Val) c.-69+1678A>T (n.-69+1678A>T) | |
| 10 | g.49610878C>A | CA376716015 | CHAT,SLC18A3 | c.138C>A (p.Asp46Glu) c.-69+1679C>A (n.-69+1679C>A) | |
| 10 | g.49610878C>G | CA376716017 | CHAT,SLC18A3 | c.138C>G (p.Asp46Glu) c.-69+1679C>G (n.-69+1679C>G) | |
| 10 | g.49610878C>T | CA469790992 | CHAT,SLC18A3 | c.138C>T (p.Asp46=) c.-69+1679C>T (n.-69+1679C>T) | |
| 10 | g.49610879A>C | CA376716023 | CHAT,SLC18A3 | c.139A>C (p.Asn47His) c.-69+1680A>C (n.-69+1680A>C) | |
| 10 | g.49610879A>G | CA376716029 | CHAT,SLC18A3 | c.139A>G (p.Asn47Asp) c.-69+1680A>G (n.-69+1680A>G) | |
| 10 | g.49610879A>T | CA376716027 | CHAT,SLC18A3 | c.139A>T (p.Asn47Tyr) c.-69+1680A>T (n.-69+1680A>T) | |
| 10 | g.49610879_49610888delinsAACATGCTGT | CA1908792332 | CHAT,SLC18A3 | c.139_148delinsAACATGCTGT (p.Asn47=) c.-69+1680_-69+1689delinsAACATGCTGT (n.-69+1680_-69+1689delinsAACATGCTGT) | |
| 10 | g.49610880A= | CA1908792334 | CHAT,SLC18A3 | c.140A= (p.Asn47=) c.-69+1681A= (n.-69+1681A=) | |
| 10 | g.49610880A>C | CA376716034 | CHAT,SLC18A3 | c.140A>C (p.Asn47Thr) c.-69+1681A>C (n.-69+1681A>C) | |
| 10 | g.49610880A>G | CA5496695 | CHAT,SLC18A3 | c.140A>G (p.Asn47Ser) c.-69+1681A>G (n.-69+1681A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49610880A>T | CA376716038 | CHAT,SLC18A3 | c.140A>T (p.Asn47Ile) c.-69+1681A>T (n.-69+1681A>T) | |
| 10 | g.49610885_49610893del | CA593780728 | CHAT,SLC18A3 | c.145_153del (p.Leu49_Met51del) c.-69+1686_-69+1694del (n.-69+1686_-69+1694del) | dbSNP gnomAD v2 |
| 10 | g.49610881C>A | CA376716041 | CHAT,SLC18A3 | c.141C>A (p.Asn47Lys) c.-69+1682C>A (n.-69+1682C>A) | |
| 10 | g.49610881C>G | CA376716044 | CHAT,SLC18A3 | c.141C>G (p.Asn47Lys) c.-69+1682C>G (n.-69+1682C>G) | |
| 10 | g.49610881C>T | CA469790996 | CHAT,SLC18A3 | c.141C>T (p.Asn47=) c.-69+1682C>T (n.-69+1682C>T) | |
| 10 | g.49610882A= | CA1908792340 | CHAT,SLC18A3 | c.142A= (p.Met48=) c.-69+1683A= (n.-69+1683A=) | |
| 10 | g.49610882A>C | CA376716047 | CHAT,SLC18A3 | c.142A>C (p.Met48Leu) c.-69+1683A>C (n.-69+1683A>C) | |
| 10 | g.49610882A>G | CA206620775 | CHAT,SLC18A3 | c.142A>G (p.Met48Val) c.-69+1683A>G (n.-69+1683A>G) | dbSNP |
| 10 | g.49610882A>T | CA376716053 | CHAT,SLC18A3 | c.142A>T (p.Met48Leu) c.-69+1683A>T (n.-69+1683A>T) | |
| 10 | g.49610883T>A | CA376716056 | CHAT,SLC18A3 | c.143T>A (p.Met48Lys) c.-69+1684T>A (n.-69+1684T>A) | |
| 10 | g.49610883T>C | CA376716059 | CHAT,SLC18A3 | c.143T>C (p.Met48Thr) c.-69+1684T>C (n.-69+1684T>C) | gnomAD v4 |
| 10 | g.49610883T>G | CA376716063 | CHAT,SLC18A3 | c.143T>G (p.Met48Arg) c.-69+1684T>G (n.-69+1684T>G) | |
| 10 | g.49610884G>A | CA376716073 | CHAT,SLC18A3 | c.144G>A (p.Met48Ile) c.-69+1685G>A (n.-69+1685G>A) | |
| 10 | g.49610884G>C | CA376716071 | CHAT,SLC18A3 | c.144G>C (p.Met48Ile) c.-69+1685G>C (n.-69+1685G>C) | |
| 10 | g.49610884G>T | CA376716067 | CHAT,SLC18A3 | c.144G>T (p.Met48Ile) c.-69+1685G>T (n.-69+1685G>T) | |
| 10 | g.49610885C>A | CA376716078 | CHAT,SLC18A3 | c.145C>A (p.Leu49Met) c.-69+1686C>A (n.-69+1686C>A) | gnomAD v4 |
| 10 | g.49610885C>G | CA376716081 | CHAT,SLC18A3 | c.145C>G (p.Leu49Val) c.-69+1686C>G (n.-69+1686C>G) | |
| 10 | g.49610885C>T | CA469791001 | CHAT,SLC18A3 | c.145C>T (p.Leu49=) c.-69+1686C>T (n.-69+1686C>T) | gnomAD v4 |
| 10 | g.49610886T>A | CA376716084 | CHAT,SLC18A3 | c.146T>A (p.Leu49Gln) c.-69+1687T>A (n.-69+1687T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610886T>C | CA376716087 | CHAT,SLC18A3 | c.146T>C (p.Leu49Pro) c.-69+1687T>C (n.-69+1687T>C) | |
| 10 | g.49610886T>G | CA376716089 | CHAT,SLC18A3 | c.146T>G (p.Leu49Arg) c.-69+1687T>G (n.-69+1687T>G) | |
| 10 | g.49610886T= | CA1908792343 | CHAT,SLC18A3 | c.146T= (p.Leu49=) c.-69+1687T= (n.-69+1687T=) | |
| 10 | g.49610887_49610888dup | CA2787933732 | CHAT,SLC18A3 | c.147_148dup (p.Tyr50CysfsTer8) c.-69+1688_-69+1689dup (n.-69+1688_-69+1689dup) | |
| 10 | g.49610887G>A | CA5496696 | CHAT,SLC18A3 | c.147G>A (p.Leu49=) c.-69+1688G>A (n.-69+1688G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610887G>C | CA469791003 | CHAT,SLC18A3 | c.147G>C (p.Leu49=) c.-69+1688G>C (n.-69+1688G>C) | dbSNP gnomAD v2 |
| 10 | g.49610887G= | CA1908792350 | CHAT,SLC18A3 | c.147G= (p.Leu49=) c.-69+1688G= (n.-69+1688G=) | |
| 10 | g.49610887G>T | CA469791002 | CHAT,SLC18A3 | c.147G>T (p.Leu49=) c.-69+1688G>T (n.-69+1688G>T) | |
| 10 | g.49610888_49610889insCCAGT | CA1908792349 | CHAT,SLC18A3 | c.148_149insCCAGT (p.Tyr50SerfsTer9) c.-69+1689_-69+1690insCCAGT (n.-69+1689_-69+1690insCCAGT) | dbSNP gnomAD v4 |
| 10 | g.49610888T>A | CA376716100 | CHAT,SLC18A3 | c.148T>A (p.Tyr50Asn) c.-69+1689T>A (n.-69+1689T>A) | |
| 10 | g.49610888T>C | CA5496697 | CHAT,SLC18A3 | c.148T>C (p.Tyr50His) c.-69+1689T>C (n.-69+1689T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49610888T>G | CA376716102 | CHAT,SLC18A3 | c.148T>G (p.Tyr50Asp) c.-69+1689T>G (n.-69+1689T>G) | dbSNP |
| 10 | g.49610888T= | CA1908792356 | CHAT,SLC18A3 | c.148T= (p.Tyr50=) c.-69+1689T= (n.-69+1689T=) | |
| 10 | g.49610889A>C | CA376716106 | CHAT,SLC18A3 | c.149A>C (p.Tyr50Ser) c.-69+1690A>C (n.-69+1690A>C) | |
| 10 | g.49610889A>G | CA376716109 | CHAT,SLC18A3 | c.149A>G (p.Tyr50Cys) c.-69+1690A>G (n.-69+1690A>G) | |
| 10 | g.49610889A>T | CA376716114 | CHAT,SLC18A3 | c.149A>T (p.Tyr50Phe) c.-69+1690A>T (n.-69+1690A>T) | |
| 10 | g.49610890C>A | CA376716120 | CHAT,SLC18A3 | c.150C>A (p.Tyr50Ter) c.-69+1691C>A (n.-69+1691C>A) | |
| 10 | g.49610890C>G | CA376716117 | CHAT,SLC18A3 | c.150C>G (p.Tyr50Ter) c.-69+1691C>G (n.-69+1691C>G) | |
| 10 | g.49610890C>T | CA469791005 | CHAT,SLC18A3 | c.150C>T (p.Tyr50=) c.-69+1691C>T (n.-69+1691C>T) | |
| 10 | g.49610891A= | CA1908792360 | CHAT,SLC18A3 | c.151A= (p.Met51=) c.-69+1692A= (n.-69+1692A=) | |
| 10 | g.49610891A>C | CA376716125 | CHAT,SLC18A3 | c.151A>C (p.Met51Leu) c.-69+1692A>C (n.-69+1692A>C) | |
| 10 | g.49610891A>G | CA206620784 | CHAT,SLC18A3 | c.151A>G (p.Met51Val) c.-69+1692A>G (n.-69+1692A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49610891A>T | CA376716129 | CHAT,SLC18A3 | c.151A>T (p.Met51Leu) c.-69+1692A>T (n.-69+1692A>T) | |
| 10 | g.49610892T>A | CA376716133 | CHAT,SLC18A3 | c.152T>A (p.Met51Lys) c.-69+1693T>A (n.-69+1693T>A) | gnomAD v4 |
| 10 | g.49610892T>C | CA376716136 | CHAT,SLC18A3 | c.152T>C (p.Met51Thr) c.-69+1693T>C (n.-69+1693T>C) | gnomAD v4 |
| 10 | g.49610892T>G | CA376716140 | CHAT,SLC18A3 | c.152T>G (p.Met51Arg) c.-69+1693T>G (n.-69+1693T>G) | |
| 10 | g.49610893G>A | CA376716143 | CHAT,SLC18A3 | c.153G>A (p.Met51Ile) c.-69+1694G>A (n.-69+1694G>A) | |
| 10 | g.49610893G>C | CA376716146 | CHAT,SLC18A3 | c.153G>C (p.Met51Ile) c.-69+1694G>C (n.-69+1694G>C) | |
| 10 | g.49610893G= | CA1908792366 | CHAT,SLC18A3 | c.153G= (p.Met51=) c.-69+1694G= (n.-69+1694G=) | |
| 10 | g.49610893G>T | CA376716148 | CHAT,SLC18A3 | c.153G>T (p.Met51Ile) c.-69+1694G>T (n.-69+1694G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49610894G>A | CA376716154 | CHAT,SLC18A3 | c.154G>A (p.Val52Ile) c.-69+1695G>A (n.-69+1695G>A) | |
| 10 | g.49610894G>C | CA376716157 | CHAT,SLC18A3 | c.154G>C (p.Val52Leu) c.-69+1695G>C (n.-69+1695G>C) | |
| 10 | g.49610894G>T | CA376716160 | CHAT,SLC18A3 | c.154G>T (p.Val52Phe) c.-69+1695G>T (n.-69+1695G>T) | |
| 10 | g.49610895T>A | CA376716166 | CHAT,SLC18A3 | c.155T>A (p.Val52Asp) c.-69+1696T>A (n.-69+1696T>A) | |
| 10 | g.49610895T>C | CA5496698 | CHAT,SLC18A3 | c.155T>C (p.Val52Ala) c.-69+1696T>C (n.-69+1696T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49610895T>G | CA376716165 | CHAT,SLC18A3 | c.155T>G (p.Val52Gly) c.-69+1696T>G (n.-69+1696T>G) | |
| 10 | g.49610895T= | CA1908792373 | CHAT,SLC18A3 | c.155T= (p.Val52=) c.-69+1696T= (n.-69+1696T=) | |
| 10 | g.49610896C>A | CA469791009 | CHAT,SLC18A3 | c.156C>A (p.Val52=) c.-69+1697C>A (n.-69+1697C>A) | |
| 10 | g.49610896C>G | CA469791008 | CHAT,SLC18A3 | c.156C>G (p.Val52=) c.-69+1697C>G (n.-69+1697C>G) | |
| 10 | g.49610896C>T | CA469791011 | CHAT,SLC18A3 | c.156C>T (p.Val52=) c.-69+1697C>T (n.-69+1697C>T) | |
| 10 | g.49610897A= | CA1908792378 | CHAT,SLC18A3 | c.157A= (p.Ile53=) c.-69+1698A= (n.-69+1698A=) | |
| 10 | g.49610897A>C | CA376716173 | CHAT,SLC18A3 | c.157A>C (p.Ile53Leu) c.-69+1698A>C (n.-69+1698A>C) | gnomAD v4 |
| 10 | g.49610897A>G | CA376716175 | CHAT,SLC18A3 | c.157A>G (p.Ile53Val) c.-69+1698A>G (n.-69+1698A>G) | dbSNP |
| 10 | g.49610897A>T | CA376716176 | CHAT,SLC18A3 | c.157A>T (p.Ile53Phe) c.-69+1698A>T (n.-69+1698A>T) | |
| 10 | g.49610898T>A | CA376716180 | CHAT,SLC18A3 | c.158T>A (p.Ile53Asn) c.-69+1699T>A (n.-69+1699T>A) | gnomAD v4 |
| 10 | g.49610898T>C | CA376716183 | CHAT,SLC18A3 | c.158T>C (p.Ile53Thr) c.-69+1699T>C (n.-69+1699T>C) | |
| 10 | g.49610898T>G | CA376716185 | CHAT,SLC18A3 | c.158T>G (p.Ile53Ser) c.-69+1699T>G (n.-69+1699T>G) | |
| 10 | g.49610899C>A | CA469791014 | CHAT,SLC18A3 | c.159C>A (p.Ile53=) c.-69+1700C>A (n.-69+1700C>A) | |
| 10 | g.49610899C= | CA1908792382 | CHAT,SLC18A3 | c.159C= (p.Ile53=) c.-69+1700C= (n.-69+1700C=) | |
| 10 | g.49610899C>G | CA5496699 | CHAT,SLC18A3 | c.159C>G (p.Ile53Met) c.-69+1700C>G (n.-69+1700C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49610899C>T | CA469791015 | CHAT,SLC18A3 | c.159C>T (p.Ile53=) c.-69+1700C>T (n.-69+1700C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.49610900G>A | CA376716192 | CHAT,SLC18A3 | c.160G>A (p.Val54Met) c.-69+1701G>A (n.-69+1701G>A) | COSMIC |
| 10 | g.49610900G>C | CA376716195 | CHAT,SLC18A3 | c.160G>C (p.Val54Leu) c.-69+1701G>C (n.-69+1701G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49610900G= | CA1908792387 | CHAT,SLC18A3 | c.160G= (p.Val54=) c.-69+1701G= (n.-69+1701G=) | |
| 10 | g.49610900G>T | CA376716200 | CHAT,SLC18A3 | c.160G>T (p.Val54Leu) c.-69+1701G>T (n.-69+1701G>T) | |
| 10 | g.49610901T>A | CA376716201 | CHAT,SLC18A3 | c.161T>A (p.Val54Glu) c.-69+1702T>A (n.-69+1702T>A) | |
| 10 | g.49610901T>C | CA376716205 | CHAT,SLC18A3 | c.161T>C (p.Val54Ala) c.-69+1702T>C (n.-69+1702T>C) | |
| 10 | g.49610901T>G | CA376716209 | CHAT,SLC18A3 | c.161T>G (p.Val54Gly) c.-69+1702T>G (n.-69+1702T>G) | |
| 10 | g.49610902G>A | CA469791017 | CHAT,SLC18A3 | c.162G>A (p.Val54=) c.-69+1703G>A (n.-69+1703G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49610902G>C | CA469791019 | CHAT,SLC18A3 | c.162G>C (p.Val54=) c.-69+1703G>C (n.-69+1703G>C) | |
| 10 | g.49610902G= | CA1908792390 | CHAT,SLC18A3 | c.162G= (p.Val54=) c.-69+1703G= (n.-69+1703G=) | |
| 10 | g.49610902G>T | CA469791018 | CHAT,SLC18A3 | c.162G>T (p.Val54=) c.-69+1703G>T (n.-69+1703G>T) | |
| 10 | g.49610903C>A | CA376716216 | CHAT,SLC18A3 | c.163C>A (p.Pro55Thr) c.-69+1704C>A (n.-69+1704C>A) | |
| 10 | g.49610903C= | CA1908792393 | CHAT,SLC18A3 | c.163C= (p.Pro55=) c.-69+1704C= (n.-69+1704C=) | |
| 10 | g.49610903C>G | CA376716214 | CHAT,SLC18A3 | c.163C>G (p.Pro55Ala) c.-69+1704C>G (n.-69+1704C>G) | |
| 10 | g.49610903C>T | CA206620790 | CHAT,SLC18A3 | c.163C>T (p.Pro55Ser) c.-69+1704C>T (n.-69+1704C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.49610904C>A | CA376716222 | CHAT,SLC18A3 | c.164C>A (p.Pro55His) c.-69+1705C>A (n.-69+1705C>A) | |
| 10 | g.49610904C= | CA1908792397 | CHAT,SLC18A3 | c.164C= (p.Pro55=) c.-69+1705C= (n.-69+1705C=) | |
| 10 | g.49610904C>G | CA376716229 | CHAT,SLC18A3 | c.164C>G (p.Pro55Arg) c.-69+1705C>G (n.-69+1705C>G) | |
| 10 | g.49610904C>T | CA376716226 | CHAT,SLC18A3 | c.164C>T (p.Pro55Leu) c.-69+1705C>T (n.-69+1705C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49610905C>A | CA469791024 | CHAT,SLC18A3 | c.165C>A (p.Pro55=) c.-69+1706C>A (n.-69+1706C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49610905C= | CA1908792398 | CHAT,SLC18A3 | c.165C= (p.Pro55=) c.-69+1706C= (n.-69+1706C=) | |
| 10 | g.49610905C>G | CA469791023 | CHAT,SLC18A3 | c.165C>G (p.Pro55=) c.-69+1706C>G (n.-69+1706C>G) | |
| 10 | g.49610905C>T | CA469791021 | CHAT,SLC18A3 | c.165C>T (p.Pro55=) c.-69+1706C>T (n.-69+1706C>T) | gnomAD v4 |
| 10 | g.49610906A= | CA1908792399 | CHAT,SLC18A3 | c.166A= (p.Ile56=) c.-69+1707A= (n.-69+1707A=) | |
| 10 | g.49610906A>C | CA376716232 | CHAT,SLC18A3 | c.166A>C (p.Ile56Leu) c.-69+1707A>C (n.-69+1707A>C) | |
| 10 | g.49610906A>G | CA5496700 | CHAT,SLC18A3 | c.166A>G (p.Ile56Val) c.-69+1707A>G (n.-69+1707A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610906A>T | CA376716235 | CHAT,SLC18A3 | c.166A>T (p.Ile56Leu) c.-69+1707A>T (n.-69+1707A>T) | |
| 10 | g.49610907T>A | CA376716240 | CHAT,SLC18A3 | c.167T>A (p.Ile56Lys) c.-69+1708T>A (n.-69+1708T>A) | |
| 10 | g.49610907T>C | CA206620796 | CHAT,SLC18A3 | c.167T>C (p.Ile56Thr) c.-69+1708T>C (n.-69+1708T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610907T>G | CA376716243 | CHAT,SLC18A3 | c.167T>G (p.Ile56Arg) c.-69+1708T>G (n.-69+1708T>G) | |
| 10 | g.49610907T= | CA1908792402 | CHAT,SLC18A3 | c.167T= (p.Ile56=) c.-69+1708T= (n.-69+1708T=) | |
| 10 | g.49610908A>C | CA469791027 | CHAT,SLC18A3 | c.168A>C (p.Ile56=) c.-69+1709A>C (n.-69+1709A>C) | |
| 10 | g.49610908A>G | CA376716250 | CHAT,SLC18A3 | c.168A>G (p.Ile56Met) c.-69+1709A>G (n.-69+1709A>G) | |
| 10 | g.49610908A>T | CA469791026 | CHAT,SLC18A3 | c.168A>T (p.Ile56=) c.-69+1709A>T (n.-69+1709A>T) | gnomAD v4 |
| 10 | g.49610909G>A | CA376716257 | CHAT,SLC18A3 | c.169G>A (p.Val57Met) c.-69+1710G>A (n.-69+1710G>A) | |
| 10 | g.49610909G>C | CA376716254 | CHAT,SLC18A3 | c.169G>C (p.Val57Leu) c.-69+1710G>C (n.-69+1710G>C) | |
| 10 | g.49610909G>T | CA376716260 | CHAT,SLC18A3 | c.169G>T (p.Val57Leu) c.-69+1710G>T (n.-69+1710G>T) | |
| 10 | g.49610910T>A | CA376716263 | CHAT,SLC18A3 | c.170T>A (p.Val57Glu) c.-69+1711T>A (n.-69+1711T>A) | |
| 10 | g.49610910T>C | CA376716269 | CHAT,SLC18A3 | c.170T>C (p.Val57Ala) c.-69+1711T>C (n.-69+1711T>C) | |
| 10 | g.49610910T>G | CA376716266 | CHAT,SLC18A3 | c.170T>G (p.Val57Gly) c.-69+1711T>G (n.-69+1711T>G) | |
| 10 | g.49610911G>A | CA469791031 | CHAT,SLC18A3 | c.171G>A (p.Val57=) c.-69+1712G>A (n.-69+1712G>A) | dbSNP gnomAD v4 |
| 10 | g.49610911G>C | CA469791030 | CHAT,SLC18A3 | c.171G>C (p.Val57=) c.-69+1712G>C (n.-69+1712G>C) | |
| 10 | g.49610911G= | CA1908792407 | CHAT,SLC18A3 | c.171G= (p.Val57=) c.-69+1712G= (n.-69+1712G=) | |
| 10 | g.49610911G>T | CA469791029 | CHAT,SLC18A3 | c.171G>T (p.Val57=) c.-69+1712G>T (n.-69+1712G>T) | |
| 10 | g.49610912C>A | CA376716276 | CHAT,SLC18A3 | c.172C>A (p.Pro58Thr) c.-69+1713C>A (n.-69+1713C>A) | |
| 10 | g.49610912C= | CA1908792412 | CHAT,SLC18A3 | c.172C= (p.Pro58=) c.-69+1713C= (n.-69+1713C=) | |
| 10 | g.49610912C>G | CA376716278 | CHAT,SLC18A3 | c.172C>G (p.Pro58Ala) c.-69+1713C>G (n.-69+1713C>G) | |
| 10 | g.49610912C>T | CA376716281 | CHAT,SLC18A3 | c.172C>T (p.Pro58Ser) c.-69+1713C>T (n.-69+1713C>T) | dbSNP gnomAD v2 |
| 10 | g.49610913C>A | CA376716286 | CHAT,SLC18A3 | c.173C>A (p.Pro58His) c.-69+1714C>A (n.-69+1714C>A) | |
| 10 | g.49610913C>G | CA376716288 | CHAT,SLC18A3 | c.173C>G (p.Pro58Arg) c.-69+1714C>G (n.-69+1714C>G) | |
| 10 | g.49610913C>T | CA376716291 | CHAT,SLC18A3 | c.173C>T (p.Pro58Leu) c.-69+1714C>T (n.-69+1714C>T) | gnomAD v4 |
| 10 | g.49610914C>A | CA469791032 | CHAT,SLC18A3 | c.174C>A (p.Pro58=) c.-69+1715C>A (n.-69+1715C>A) | |
| 10 | g.49610914C= | CA1908792416 | CHAT,SLC18A3 | c.174C= (p.Pro58=) c.-69+1715C= (n.-69+1715C=) | |
| 10 | g.49610914C>G | CA469791033 | CHAT,SLC18A3 | c.174C>G (p.Pro58=) c.-69+1715C>G (n.-69+1715C>G) | dbSNP gnomAD v4 |
| 10 | g.49610914C>T | CA5496701 | CHAT,SLC18A3 | c.174C>T (p.Pro58=) c.-69+1715C>T (n.-69+1715C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49610915G>A | CA206620801 | CHAT,SLC18A3 | c.175G>A (p.Asp59Asn) c.-69+1716G>A (n.-69+1716G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610915G>C | CA376716300 | CHAT,SLC18A3 | c.175G>C (p.Asp59His) c.-69+1716G>C (n.-69+1716G>C) | |
| 10 | g.49610915G= | CA1908792422 | CHAT,SLC18A3 | c.175G= (p.Asp59=) c.-69+1716G= (n.-69+1716G=) | |
| 10 | g.49610915G>T | CA376716302 | CHAT,SLC18A3 | c.175G>T (p.Asp59Tyr) c.-69+1716G>T (n.-69+1716G>T) | |
| 10 | g.49610916A>C | CA376716313 | CHAT,SLC18A3 | c.176A>C (p.Asp59Ala) c.-69+1717A>C (n.-69+1717A>C) | |
| 10 | g.49610916A>G | CA376716308 | CHAT,SLC18A3 | c.176A>G (p.Asp59Gly) c.-69+1717A>G (n.-69+1717A>G) | |
| 10 | g.49610916A>T | CA376716310 | CHAT,SLC18A3 | c.176A>T (p.Asp59Val) c.-69+1717A>T (n.-69+1717A>T) | |
| 10 | g.49610917C>A | CA376716317 | CHAT,SLC18A3 | c.177C>A (p.Asp59Glu) c.-69+1718C>A (n.-69+1718C>A) | |
| 10 | g.49610917C= | CA1908792427 | CHAT,SLC18A3 | c.177C= (p.Asp59=) c.-69+1718C= (n.-69+1718C=) | |
| 10 | g.49610917C>G | CA376716322 | CHAT,SLC18A3 | c.177C>G (p.Asp59Glu) c.-69+1718C>G (n.-69+1718C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610917C>T | CA469791034 | CHAT,SLC18A3 | c.177C>T (p.Asp59=) c.-69+1718C>T (n.-69+1718C>T) | dbSNP |
| 10 | g.49610918T>A | CA376716326 | CHAT,SLC18A3 | c.178T>A (p.Tyr60Asn) c.-69+1719T>A (n.-69+1719T>A) | |
| 10 | g.49610918T>C | CA376716328 | CHAT,SLC18A3 | c.178T>C (p.Tyr60His) c.-69+1719T>C (n.-69+1719T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49610918T>G | CA376716330 | CHAT,SLC18A3 | c.178T>G (p.Tyr60Asp) c.-69+1719T>G (n.-69+1719T>G) | |
| 10 | g.49610918T= | CA1908792432 | CHAT,SLC18A3 | c.178T= (p.Tyr60=) c.-69+1719T= (n.-69+1719T=) | |
| 10 | g.49610919A>C | CA376716335 | CHAT,SLC18A3 | c.179A>C (p.Tyr60Ser) c.-69+1720A>C (n.-69+1720A>C) | |
| 10 | g.49610919A>G | CA376716337 | CHAT,SLC18A3 | c.179A>G (p.Tyr60Cys) c.-69+1720A>G (n.-69+1720A>G) | |
| 10 | g.49610919A>T | CA376716338 | CHAT,SLC18A3 | c.179A>T (p.Tyr60Phe) c.-69+1720A>T (n.-69+1720A>T) | |
| 10 | g.49610920C>A | CA376716343 | CHAT,SLC18A3 | c.180C>A (p.Tyr60Ter) c.-69+1721C>A (n.-69+1721C>A) | gnomAD v4 |
| 10 | g.49610920C>G | CA376716345 | CHAT,SLC18A3 | c.180C>G (p.Tyr60Ter) c.-69+1721C>G (n.-69+1721C>G) | |
| 10 | g.49610920C>T | CA469791035 | CHAT,SLC18A3 | c.180C>T (p.Tyr60=) c.-69+1721C>T (n.-69+1721C>T) | gnomAD v4 |
| 10 | g.49610921A= | CA1908792435 | CHAT,SLC18A3 | c.181A= (p.Ile61=) c.-69+1722A= (n.-69+1722A=) | |
| 10 | g.49610921A>C | CA376716352 | CHAT,SLC18A3 | c.181A>C (p.Ile61Leu) c.-69+1722A>C (n.-69+1722A>C) | |
| 10 | g.49610921A>G | CA5496702 | CHAT,SLC18A3 | c.181A>G (p.Ile61Val) c.-69+1722A>G (n.-69+1722A>G) | dbSNP ExAC gnomAD v2 |
| 10 | g.49610921A>T | CA376716348 | CHAT,SLC18A3 | c.181A>T (p.Ile61Phe) c.-69+1722A>T (n.-69+1722A>T) | |
| 10 | g.49610922T>A | CA376716358 | CHAT,SLC18A3 | c.182T>A (p.Ile61Asn) c.-69+1723T>A (n.-69+1723T>A) | |
| 10 | g.49610922T>C | CA376716362 | CHAT,SLC18A3 | c.182T>C (p.Ile61Thr) c.-69+1723T>C (n.-69+1723T>C) | |
| 10 | g.49610922T>G | CA376716365 | CHAT,SLC18A3 | c.182T>G (p.Ile61Ser) c.-69+1723T>G (n.-69+1723T>G) | |
| 10 | g.49610923C>A | CA469791037 | CHAT,SLC18A3 | c.183C>A (p.Ile61=) c.-69+1724C>A (n.-69+1724C>A) | gnomAD v3 gnomAD v4 |
| 10 | g.49610923C= | CA1908792439 | CHAT,SLC18A3 | c.183C= (p.Ile61=) c.-69+1724C= (n.-69+1724C=) | |
| 10 | g.49610923C>G | CA5496703 | CHAT,SLC18A3 | c.183C>G (p.Ile61Met) c.-69+1724C>G (n.-69+1724C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610923C>T | CA469791036 | CHAT,SLC18A3 | c.183C>T (p.Ile61=) c.-69+1724C>T (n.-69+1724C>T) | ClinVar dbSNP gnomAD v4 |
| 10 | g.49610924G>A | CA376716371 | CHAT,SLC18A3 | c.184G>A (p.Ala62Thr) c.-69+1725G>A (n.-69+1725G>A) | dbSNP gnomAD v4 COSMIC |
| 10 | g.49610924G>C | CA376716375 | CHAT,SLC18A3 | c.184G>C (p.Ala62Pro) c.-69+1725G>C (n.-69+1725G>C) | gnomAD v4 |
| 10 | g.49610924G= | CA1908792442 | CHAT,SLC18A3 | c.184G= (p.Ala62=) c.-69+1725G= (n.-69+1725G=) | |
| 10 | g.49610924G>T | CA376716378 | CHAT,SLC18A3 | c.184G>T (p.Ala62Ser) c.-69+1725G>T (n.-69+1725G>T) | gnomAD v4 |
| 10 | g.49610925C>A | CA376716381 | CHAT,SLC18A3 | c.185C>A (p.Ala62Asp) c.-69+1726C>A (n.-69+1726C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610925C= | CA1908792447 | CHAT,SLC18A3 | c.185C= (p.Ala62=) c.-69+1726C= (n.-69+1726C=) | |
| 10 | g.49610925C>G | CA376716384 | CHAT,SLC18A3 | c.185C>G (p.Ala62Gly) c.-69+1726C>G (n.-69+1726C>G) | |
| 10 | g.49610925C>T | CA376716387 | CHAT,SLC18A3 | c.185C>T (p.Ala62Val) c.-69+1726C>T (n.-69+1726C>T) | dbSNP gnomAD v4 |
| 10 | g.49610926C>A | CA469791038 | CHAT,SLC18A3 | c.186C>A (p.Ala62=) c.-69+1727C>A (n.-69+1727C>A) | |
| 10 | g.49610926C= | CA1908792450 | CHAT,SLC18A3 | c.186C= (p.Ala62=) c.-69+1727C= (n.-69+1727C=) | |
| 10 | g.49610926C>G | CA5496704 | CHAT,SLC18A3 | c.186C>G (p.Ala62=) c.-69+1727C>G (n.-69+1727C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49610926C>T | CA469791039 | CHAT,SLC18A3 | c.186C>T (p.Ala62=) c.-69+1727C>T (n.-69+1727C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49610927C>A | CA376716393 | CHAT,SLC18A3 | c.187C>A (p.His63Asn) c.-69+1728C>A (n.-69+1728C>A) | gnomAD v4 |
| 10 | g.49610927C>G | CA376716396 | CHAT,SLC18A3 | c.187C>G (p.His63Asp) c.-69+1728C>G (n.-69+1728C>G) | |
| 10 | g.49610927C>T | CA376716391 | CHAT,SLC18A3 | c.187C>T (p.His63Tyr) c.-69+1728C>T (n.-69+1728C>T) | |
| 10 | g.49610928A= | CA1908792454 | CHAT,SLC18A3 | c.188A= (p.His63=) c.-69+1729A= (n.-69+1729A=) | |
| 10 | g.49610928A>C | CA376716400 | CHAT,SLC18A3 | c.188A>C (p.His63Pro) c.-69+1729A>C (n.-69+1729A>C) | |
| 10 | g.49610928A>G | CA376716403 | CHAT,SLC18A3 | c.188A>G (p.His63Arg) c.-69+1729A>G (n.-69+1729A>G) | |
| 10 | g.49610928A>T | CA376716405 | CHAT,SLC18A3 | c.188A>T (p.His63Leu) c.-69+1729A>T (n.-69+1729A>T) | dbSNP gnomAD v4 |
| 10 | g.49610929C>A | CA376716410 | CHAT,SLC18A3 | c.189C>A (p.His63Gln) c.-69+1730C>A (n.-69+1730C>A) | |
| 10 | g.49610929C>G | CA376716413 | CHAT,SLC18A3 | c.189C>G (p.His63Gln) c.-69+1730C>G (n.-69+1730C>G) | |
| 10 | g.49610929C>T | CA469791043 | CHAT,SLC18A3 | c.189C>T (p.His63=) c.-69+1730C>T (n.-69+1730C>T) | gnomAD v4 |
| 10 | g.49610930A>C | CA376716423 | CHAT,SLC18A3 | c.190A>C (p.Met64Leu) c.-69+1731A>C (n.-69+1731A>C) | |
| 10 | g.49610930A>G | CA376716416 | CHAT,SLC18A3 | c.190A>G (p.Met64Val) c.-69+1731A>G (n.-69+1731A>G) | gnomAD v4 |
| 10 | g.49610930A>T | CA376716420 | CHAT,SLC18A3 | c.190A>T (p.Met64Leu) c.-69+1731A>T (n.-69+1731A>T) | |
| 10 | g.49610931T>A | CA376716426 | CHAT,SLC18A3 | c.191T>A (p.Met64Lys) c.-69+1732T>A (n.-69+1732T>A) | |
| 10 | g.49610931T>C | CA376716429 | CHAT,SLC18A3 | c.191T>C (p.Met64Thr) c.-69+1732T>C (n.-69+1732T>C) | |
| 10 | g.49610931T>G | CA376716431 | CHAT,SLC18A3 | c.191T>G (p.Met64Arg) c.-69+1732T>G (n.-69+1732T>G) | |
| 10 | g.49610932G>A | CA376716437 | CHAT,SLC18A3 | c.192G>A (p.Met64Ile) c.-69+1733G>A (n.-69+1733G>A) | |
| 10 | g.49610932G>C | CA376716441 | CHAT,SLC18A3 | c.192G>C (p.Met64Ile) c.-69+1733G>C (n.-69+1733G>C) | |
| 10 | g.49610932G>T | CA376716442 | CHAT,SLC18A3 | c.192G>T (p.Met64Ile) c.-69+1733G>T (n.-69+1733G>T) | |
| 10 | g.49610933C>A | CA376716449 | CHAT,SLC18A3 | c.193C>A (p.Arg65Ser) c.-69+1734C>A (n.-69+1734C>A) | gnomAD v4 |
| 10 | g.49610933C= | CA1908792460 | CHAT,SLC18A3 | c.193C= (p.Arg65=) c.-69+1734C= (n.-69+1734C=) | |
| 10 | g.49610933C>G | CA5496705 | CHAT,SLC18A3 | c.193C>G (p.Arg65Gly) c.-69+1734C>G (n.-69+1734C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49610933C>T | CA376716446 | CHAT,SLC18A3 | c.193C>T (p.Arg65Cys) c.-69+1734C>T (n.-69+1734C>T) | dbSNP gnomAD v2 |
| 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 |