SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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.
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.49610809G>A | CA469790896 | CHAT,SLC18A3 | c.69G>A (p.Ala23=) c.-69+1610G>A (n.-69+1610G>A) | gnomAD v4 |
| 10 | g.49610809G>C | CA469790899 | CHAT,SLC18A3 | c.69G>C (p.Ala23=) c.-69+1610G>C (n.-69+1610G>C) | |
| 10 | g.49610809G>T | CA469790898 | CHAT,SLC18A3 | c.69G>T (p.Ala23=) c.-69+1610G>T (n.-69+1610G>T) | gnomAD v4 |
| 10 | g.49610810G>A | CA376715547 | CHAT,SLC18A3 | c.70G>A (p.Ala24Thr) c.-69+1611G>A (n.-69+1611G>A) | |
| 10 | g.49610810G>C | CA376715551 | CHAT,SLC18A3 | c.70G>C (p.Ala24Pro) c.-69+1611G>C (n.-69+1611G>C) | |
| 10 | g.49610810G>T | CA376715554 | CHAT,SLC18A3 | c.70G>T (p.Ala24Ser) c.-69+1611G>T (n.-69+1611G>T) | |
| 10 | g.49610811C>A | CA206620728 | CHAT,SLC18A3 | c.71C>A (p.Ala24Glu) c.-69+1612C>A (n.-69+1612C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49610811C= | CA1908792165 | CHAT,SLC18A3 | c.71C= (p.Ala24=) c.-69+1612C= (n.-69+1612C=) | |
| 10 | g.49610811C>G | CA376715561 | CHAT,SLC18A3 | c.71C>G (p.Ala24Gly) c.-69+1612C>G (n.-69+1612C>G) | |
| 10 | g.49610811C>T | CA376715564 | CHAT,SLC18A3 | c.71C>T (p.Ala24Val) c.-69+1612C>T (n.-69+1612C>T) | dbSNP |
| 10 | g.49610812G>A | CA469790901 | CHAT,SLC18A3 | c.72G>A (p.Ala24=) c.-69+1613G>A (n.-69+1613G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49610812G>C | CA469790902 | CHAT,SLC18A3 | c.72G>C (p.Ala24=) c.-69+1613G>C (n.-69+1613G>C) | |
| 10 | g.49610812G= | CA1908792170 | CHAT,SLC18A3 | c.72G= (p.Ala24=) c.-69+1613G= (n.-69+1613G=) | |
| 10 | g.49610812G>T | CA5496680 | CHAT,SLC18A3 | c.72G>T (p.Ala24=) c.-69+1613G>T (n.-69+1613G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610813C>A | CA376715570 | CHAT,SLC18A3 | c.73C>A (p.Leu25Met) c.-69+1614C>A (n.-69+1614C>A) | |
| 10 | g.49610813C= | CA1908792175 | CHAT,SLC18A3 | c.73C= (p.Leu25=) c.-69+1614C= (n.-69+1614C=) | |
| 10 | g.49610813C>G | CA376715573 | CHAT,SLC18A3 | c.73C>G (p.Leu25Val) c.-69+1614C>G (n.-69+1614C>G) | |
| 10 | g.49610813C>T | CA469790903 | CHAT,SLC18A3 | c.73C>T (p.Leu25=) c.-69+1614C>T (n.-69+1614C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49610814T>A | CA376715578 | CHAT,SLC18A3 | c.74T>A (p.Leu25Gln) c.-69+1615T>A (n.-69+1615T>A) | |
| 10 | g.49610814T>C | CA376715582 | CHAT,SLC18A3 | c.74T>C (p.Leu25Pro) c.-69+1615T>C (n.-69+1615T>C) | |
| 10 | g.49610814T>G | CA376715577 | CHAT,SLC18A3 | c.74T>G (p.Leu25Arg) c.-69+1615T>G (n.-69+1615T>G) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.49610814T= | CA1908792180 | CHAT,SLC18A3 | c.74T= (p.Leu25=) c.-69+1615T= (n.-69+1615T=) | |
| 10 | g.49610815G>A | CA469790906 | CHAT,SLC18A3 | c.75G>A (p.Leu25=) c.-69+1616G>A (n.-69+1616G>A) | dbSNP gnomAD v4 |
| 10 | g.49610815G>C | CA469790905 | CHAT,SLC18A3 | c.75G>C (p.Leu25=) c.-69+1616G>C (n.-69+1616G>C) | |
| 10 | g.49610815G= | CA1908792182 | CHAT,SLC18A3 | c.75G= (p.Leu25=) c.-69+1616G= (n.-69+1616G=) | |
| 10 | g.49610815G>T | CA469790907 | CHAT,SLC18A3 | c.75G>T (p.Leu25=) c.-69+1616G>T (n.-69+1616G>T) | dbSNP gnomAD v4 |
| 10 | g.49610816C>A | CA376715586 | CHAT,SLC18A3 | c.76C>A (p.Gln26Lys) c.-69+1617C>A (n.-69+1617C>A) | gnomAD v4 |
| 10 | g.49610816C>G | CA376715588 | CHAT,SLC18A3 | c.76C>G (p.Gln26Glu) c.-69+1617C>G (n.-69+1617C>G) | |
| 10 | g.49610816C>T | CA376715593 | CHAT,SLC18A3 | c.76C>T (p.Gln26Ter) c.-69+1617C>T (n.-69+1617C>T) | gnomAD v4 |
| 10 | g.49610817A= | CA1908792185 | CHAT,SLC18A3 | c.77A= (p.Gln26=) c.-69+1618A= (n.-69+1618A=) | |
| 10 | g.49610817A>C | CA5496681 | CHAT,SLC18A3 | c.77A>C (p.Gln26Pro) c.-69+1618A>C (n.-69+1618A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49610817A>G | CA376715598 | CHAT,SLC18A3 | c.77A>G (p.Gln26Arg) c.-69+1618A>G (n.-69+1618A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49610817A>T | CA376715600 | CHAT,SLC18A3 | c.77A>T (p.Gln26Leu) c.-69+1618A>T (n.-69+1618A>T) | |
| 10 | g.49610818G>A | CA469790909 | CHAT,SLC18A3 | c.78G>A (p.Gln26=) c.-69+1619G>A (n.-69+1619G>A) | |
| 10 | g.49610818G>C | CA376715601 | CHAT,SLC18A3 | c.78G>C (p.Gln26His) c.-69+1619G>C (n.-69+1619G>C) | |
| 10 | g.49610818G>T | CA376715602 | CHAT,SLC18A3 | c.78G>T (p.Gln26His) c.-69+1619G>T (n.-69+1619G>T) | |
| 10 | g.49610819G>A | CA206620731 | CHAT,SLC18A3 | c.79G>A (p.Glu27Lys) c.-69+1620G>A (n.-69+1620G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610819G>C | CA376715603 | CHAT,SLC18A3 | c.79G>C (p.Glu27Gln) c.-69+1620G>C (n.-69+1620G>C) | |
| 10 | g.49610819G= | CA1908792187 | CHAT,SLC18A3 | c.79G= (p.Glu27=) c.-69+1620G= (n.-69+1620G=) | |
| 10 | g.49610819G>T | CA376715606 | CHAT,SLC18A3 | c.79G>T (p.Glu27Ter) c.-69+1620G>T (n.-69+1620G>T) | |
| 10 | g.49610820A>C | CA376715610 | CHAT,SLC18A3 | c.80A>C (p.Glu27Ala) c.-69+1621A>C (n.-69+1621A>C) | |
| 10 | g.49610820A>G | CA376715612 | CHAT,SLC18A3 | c.80A>G (p.Glu27Gly) c.-69+1621A>G (n.-69+1621A>G) | |
| 10 | g.49610820A>T | CA376715614 | CHAT,SLC18A3 | c.80A>T (p.Glu27Val) c.-69+1621A>T (n.-69+1621A>T) | |
| 10 | g.49610821G>A | CA469790911 | CHAT,SLC18A3 | c.81G>A (p.Glu27=) c.-69+1622G>A (n.-69+1622G>A) | dbSNP |
| 10 | g.49610821G>C | CA376715621 | CHAT,SLC18A3 | c.81G>C (p.Glu27Asp) c.-69+1622G>C (n.-69+1622G>C) | |
| 10 | g.49610821G= | CA1908792191 | CHAT,SLC18A3 | c.81G= (p.Glu27=) c.-69+1622G= (n.-69+1622G=) | |
| 10 | g.49610821G>T | CA376715622 | CHAT,SLC18A3 | c.81G>T (p.Glu27Asp) c.-69+1622G>T (n.-69+1622G>T) | gnomAD v4 |
| 10 | g.49610822C>A | CA376715625 | CHAT,SLC18A3 | c.82C>A (p.Pro28Thr) c.-69+1623C>A (n.-69+1623C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49610822C= | CA1908792193 | CHAT,SLC18A3 | c.82C= (p.Pro28=) c.-69+1623C= (n.-69+1623C=) | |
| 10 | g.49610822C>G | CA376715628 | CHAT,SLC18A3 | c.82C>G (p.Pro28Ala) c.-69+1623C>G (n.-69+1623C>G) | |
| 10 | g.49610822C>T | CA376715631 | CHAT,SLC18A3 | c.82C>T (p.Pro28Ser) c.-69+1623C>T (n.-69+1623C>T) | gnomAD v4 |
| 10 | g.49610823C>A | CA376715635 | CHAT,SLC18A3 | c.83C>A (p.Pro28His) c.-69+1624C>A (n.-69+1624C>A) | |
| 10 | g.49610823C= | CA1908792196 | CHAT,SLC18A3 | c.83C= (p.Pro28=) c.-69+1624C= (n.-69+1624C=) | |
| 10 | g.49610823C>G | CA376715638 | CHAT,SLC18A3 | c.83C>G (p.Pro28Arg) c.-69+1624C>G (n.-69+1624C>G) | gnomAD v4 |
| 10 | g.49610823C>T | CA376715642 | CHAT,SLC18A3 | c.83C>T (p.Pro28Leu) c.-69+1624C>T (n.-69+1624C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610824C>A | CA5496682 | CHAT,SLC18A3 | c.84C>A (p.Pro28=) c.-69+1625C>A (n.-69+1625C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49610824C= | CA1908792201 | CHAT,SLC18A3 | c.84C= (p.Pro28=) c.-69+1625C= (n.-69+1625C=) | |
| 10 | g.49610824C>G | CA469790917 | CHAT,SLC18A3 | c.84C>G (p.Pro28=) c.-69+1625C>G (n.-69+1625C>G) | |
| 10 | g.49610824C>T | CA469790916 | CHAT,SLC18A3 | c.84C>T (p.Pro28=) c.-69+1625C>T (n.-69+1625C>T) | gnomAD v4 |
| 10 | g.49610825C>A | CA469790919 | CHAT,SLC18A3 | c.85C>A (p.Arg29=) c.-69+1626C>A (n.-69+1626C>A) | |
| 10 | g.49610825C= | CA1908792205 | CHAT,SLC18A3 | c.85C= (p.Arg29=) c.-69+1626C= (n.-69+1626C=) | |
| 10 | g.49610825C>G | CA5496684 | CHAT,SLC18A3 | c.85C>G (p.Arg29Gly) c.-69+1626C>G (n.-69+1626C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610825C>T | CA5496683 | CHAT,SLC18A3 | c.85C>T (p.Arg29Trp) c.-69+1626C>T (n.-69+1626C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610826G>A | CA376715652 | CHAT,SLC18A3 | c.86G>A (p.Arg29Gln) c.-69+1627G>A (n.-69+1627G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610826G>C | CA376715655 | CHAT,SLC18A3 | c.86G>C (p.Arg29Pro) c.-69+1627G>C (n.-69+1627G>C) | |
| 10 | g.49610826G= | CA1908792215 | CHAT,SLC18A3 | c.86G= (p.Arg29=) c.-69+1627G= (n.-69+1627G=) | |
| 10 | g.49610826G>T | CA376715657 | CHAT,SLC18A3 | c.86G>T (p.Arg29Leu) c.-69+1627G>T (n.-69+1627G>T) | dbSNP gnomAD v4 |
| 10 | g.49610827G>A | CA5496685 | CHAT,SLC18A3 | c.87G>A (p.Arg29=) c.-69+1628G>A (n.-69+1628G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610827G>C | CA469790920 | CHAT,SLC18A3 | c.87G>C (p.Arg29=) c.-69+1628G>C (n.-69+1628G>C) | |
| 10 | g.49610827G= | CA1908792221 | CHAT,SLC18A3 | c.87G= (p.Arg29=) c.-69+1628G= (n.-69+1628G=) | |
| 10 | g.49610827G>T | CA469790921 | CHAT,SLC18A3 | c.87G>T (p.Arg29=) c.-69+1628G>T (n.-69+1628G>T) | gnomAD v4 |
| 10 | g.49610828C>A | CA5496686 | CHAT,SLC18A3 | c.88C>A (p.Arg30=) c.-69+1629C>A (n.-69+1629C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610828C= | CA1908792226 | CHAT,SLC18A3 | c.88C= (p.Arg30=) c.-69+1629C= (n.-69+1629C=) | |
| 10 | g.49610828C>G | CA376715667 | CHAT,SLC18A3 | c.88C>G (p.Arg30Gly) c.-69+1629C>G (n.-69+1629C>G) | |
| 10 | g.49610828C>T | CA5496687 | CHAT,SLC18A3 | c.88C>T (p.Arg30Trp) c.-69+1629C>T (n.-69+1629C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610829G>A | CA376715672 | CHAT,SLC18A3 | c.89G>A (p.Arg30Gln) c.-69+1630G>A (n.-69+1630G>A) | gnomAD v4 |
| 10 | g.49610829G>C | CA376715675 | CHAT,SLC18A3 | c.89G>C (p.Arg30Pro) c.-69+1630G>C (n.-69+1630G>C) | |
| 10 | g.49610829G= | CA1908792236 | CHAT,SLC18A3 | c.89G= (p.Arg30=) c.-69+1630G= (n.-69+1630G=) | |
| 10 | g.49610829G>T | CA5496688 | CHAT,SLC18A3 | c.89G>T (p.Arg30Leu) c.-69+1630G>T (n.-69+1630G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610830G>A | CA5496689 | CHAT,SLC18A3 | c.90G>A (p.Arg30=) c.-69+1631G>A (n.-69+1631G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49610830G>C | CA469790925 | CHAT,SLC18A3 | c.90G>C (p.Arg30=) c.-69+1631G>C (n.-69+1631G>C) | dbSNP |
| 10 | g.49610830G= | CA1908792239 | CHAT,SLC18A3 | c.90G= (p.Arg30=) c.-69+1631G= (n.-69+1631G=) | |
| 10 | g.49610830G>T | CA469790924 | CHAT,SLC18A3 | c.90G>T (p.Arg30=) c.-69+1631G>T (n.-69+1631G>T) | |
| 10 | g.49610831C>A | CA376715684 | CHAT,SLC18A3 | c.91C>A (p.Gln31Lys) c.-69+1632C>A (n.-69+1632C>A) | gnomAD v4 |
| 10 | g.49610831C>G | CA376715687 | CHAT,SLC18A3 | c.91C>G (p.Gln31Glu) c.-69+1632C>G (n.-69+1632C>G) | |
| 10 | g.49610831C>T | CA376715691 | CHAT,SLC18A3 | c.91C>T (p.Gln31Ter) c.-69+1632C>T (n.-69+1632C>T) | gnomAD v4 |
| 10 | g.49610832A= | CA1908792243 | CHAT,SLC18A3 | c.92A= (p.Gln31=) c.-69+1633A= (n.-69+1633A=) | |
| 10 | g.49610832A>C | CA376715695 | CHAT,SLC18A3 | c.92A>C (p.Gln31Pro) c.-69+1633A>C (n.-69+1633A>C) | |
| 10 | g.49610832A>G | CA376715699 | CHAT,SLC18A3 | c.92A>G (p.Gln31Arg) c.-69+1633A>G (n.-69+1633A>G) | |
| 10 | g.49610832A>T | CA376715701 | CHAT,SLC18A3 | c.92A>T (p.Gln31Leu) c.-69+1633A>T (n.-69+1633A>T) | dbSNP |
| 10 | g.49610833G>A | CA469790927 | CHAT,SLC18A3 | c.93G>A (p.Gln31=) c.-69+1634G>A (n.-69+1634G>A) | COSMIC |
| 10 | g.49610833G>C | CA376715704 | CHAT,SLC18A3 | c.93G>C (p.Gln31His) c.-69+1634G>C (n.-69+1634G>C) | |
| 10 | g.49610833G>T | CA376715706 | CHAT,SLC18A3 | c.93G>T (p.Gln31His) c.-69+1634G>T (n.-69+1634G>T) | |
| 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) |