| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49610971_49610984delinsGTGGGAGCCCACCC | CA1908792585 | CHAT,SLC18A3 | c.231_244delinsGTGGGAGCCCACCC (p.Val77=) c.-69+1772_-69+1785delinsGTGGGAGCCCACCC (n.-69+1772_-69+1785delinsGTGGGAGCCCACCC) | |
| 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.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 |
| 10 | g.49611035G>A | CA376718147 | CHAT,SLC18A3 | c.295G>A (p.Ala99Thr) c.-69+1836G>A (n.-69+1836G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611035G>C | CA376718144 | CHAT,SLC18A3 | c.295G>C (p.Ala99Pro) c.-69+1836G>C (n.-69+1836G>C) | COSMIC |
| 10 | g.49611035G= | CA1908792772 | CHAT,SLC18A3 | c.295G= (p.Ala99=) c.-69+1836G= (n.-69+1836G=) | |
| 10 | g.49611035G>T | CA376718142 | CHAT,SLC18A3 | c.295G>T (p.Ala99Ser) c.-69+1836G>T (n.-69+1836G>T) | |
| 10 | g.49611036C>A | CA376718150 | CHAT,SLC18A3 | c.296C>A (p.Ala99Glu) c.-69+1837C>A (n.-69+1837C>A) | |
| 10 | g.49611036C= | CA1908792776 | CHAT,SLC18A3 | c.296C= (p.Ala99=) c.-69+1837C= (n.-69+1837C=) | |
| 10 | g.49611036C>G | CA5496738 | CHAT,SLC18A3 | c.296C>G (p.Ala99Gly) c.-69+1837C>G (n.-69+1837C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611036C>T | CA376718154 | CHAT,SLC18A3 | c.296C>T (p.Ala99Val) c.-69+1837C>T (n.-69+1837C>T) | dbSNP gnomAD v4 COSMIC |
| 10 | g.49611037G>A | CA469791045 | CHAT,SLC18A3 | c.297G>A (p.Ala99=) c.-69+1838G>A (n.-69+1838G>A) | dbSNP COSMIC |
| 10 | g.49611037G>C | CA469791044 | CHAT,SLC18A3 | c.297G>C (p.Ala99=) c.-69+1838G>C (n.-69+1838G>C) | |
| 10 | g.49611037G= | CA1908792785 | CHAT,SLC18A3 | c.297G= (p.Ala99=) c.-69+1838G= (n.-69+1838G=) | |
| 10 | g.49611037G>T | CA469791046 | CHAT,SLC18A3 | c.297G>T (p.Ala99=) c.-69+1838G>T (n.-69+1838G>T) | gnomAD v4 |
| 10 | g.49611038T>A | CA376718156 | CHAT,SLC18A3 | c.298T>A (p.Ser100Thr) c.-69+1839T>A (n.-69+1839T>A) | |
| 10 | g.49611038T>C | CA376718157 | CHAT,SLC18A3 | c.298T>C (p.Ser100Pro) c.-69+1839T>C (n.-69+1839T>C) | gnomAD v4 |
| 10 | g.49611038T>G | CA376718158 | CHAT,SLC18A3 | c.298T>G (p.Ser100Ala) c.-69+1839T>G (n.-69+1839T>G) | |
| 10 | g.49611039C>A | CA206620918 | CHAT,SLC18A3 | c.299C>A (p.Ser100Tyr) c.-69+1840C>A (n.-69+1840C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611039C= | CA1908792792 | CHAT,SLC18A3 | c.299C= (p.Ser100=) c.-69+1840C= (n.-69+1840C=) | |
| 10 | g.49611039C>G | CA376718160 | CHAT,SLC18A3 | c.299C>G (p.Ser100Cys) c.-69+1840C>G (n.-69+1840C>G) | |
| 10 | g.49611039C>T | CA376718159 | CHAT,SLC18A3 | c.299C>T (p.Ser100Phe) c.-69+1840C>T (n.-69+1840C>T) | gnomAD v4 |
| 10 | g.49611040C>A | CA469791052 | CHAT,SLC18A3 | c.300C>A (p.Ser100=) c.-69+1841C>A (n.-69+1841C>A) | |
| 10 | g.49611040C= | CA1908792798 | CHAT,SLC18A3 | c.300C= (p.Ser100=) c.-69+1841C= (n.-69+1841C=) | |
| 10 | g.49611040C>G | CA469791050 | CHAT,SLC18A3 | c.300C>G (p.Ser100=) c.-69+1841C>G (n.-69+1841C>G) | |
| 10 | g.49611040C>T | CA469791051 | CHAT,SLC18A3 | c.300C>T (p.Ser100=) c.-69+1841C>T (n.-69+1841C>T) | dbSNP |
| 10 | g.49611041C>A | CA376718161 | CHAT,SLC18A3 | c.301C>A (p.Pro101Thr) c.-69+1842C>A (n.-69+1842C>A) | |
| 10 | g.49611041C>G | CA376718162 | CHAT,SLC18A3 | c.301C>G (p.Pro101Ala) c.-69+1842C>G (n.-69+1842C>G) | |
| 10 | g.49611041C>T | CA376718163 | CHAT,SLC18A3 | c.301C>T (p.Pro101Ser) c.-69+1842C>T (n.-69+1842C>T) | gnomAD v4 |
| 10 | g.49611042C>A | CA376718164 | CHAT,SLC18A3 | c.302C>A (p.Pro101Gln) c.-69+1843C>A (n.-69+1843C>A) | |
| 10 | g.49611042C= | CA1908792800 | CHAT,SLC18A3 | c.302C= (p.Pro101=) c.-69+1843C= (n.-69+1843C=) | |
| 10 | g.49611042C>G | CA376718165 | CHAT,SLC18A3 | c.302C>G (p.Pro101Arg) c.-69+1843C>G (n.-69+1843C>G) | |
| 10 | g.49611042C>T | CA5496739 | CHAT,SLC18A3 | c.302C>T (p.Pro101Leu) c.-69+1843C>T (n.-69+1843C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611043G>A | CA469791056 | CHAT,SLC18A3 | c.303G>A (p.Pro101=) c.-69+1844G>A (n.-69+1844G>A) | gnomAD v4 |
| 10 | g.49611043G>C | CA469791057 | CHAT,SLC18A3 | c.303G>C (p.Pro101=) c.-69+1844G>C (n.-69+1844G>C) | |
| 10 | g.49611043G= | CA1908792804 | CHAT,SLC18A3 | c.303G= (p.Pro101=) c.-69+1844G= (n.-69+1844G=) | |
| 10 | g.49611043G>T | CA469791058 | CHAT,SLC18A3 | c.303G>T (p.Pro101=) c.-69+1844G>T (n.-69+1844G>T) | dbSNP |
| 10 | g.49611044A>C | CA376718166 | CHAT,SLC18A3 | c.304A>C (p.Thr102Pro) c.-69+1845A>C (n.-69+1845A>C) | |
| 10 | g.49611044A>G | CA376718167 | CHAT,SLC18A3 | c.304A>G (p.Thr102Ala) c.-69+1845A>G (n.-69+1845A>G) | |
| 10 | g.49611044A>T | CA376718168 | CHAT,SLC18A3 | c.304A>T (p.Thr102Ser) c.-69+1845A>T (n.-69+1845A>T) | |
| 10 | g.49611045C>A | CA376718169 | CHAT,SLC18A3 | c.305C>A (p.Thr102Lys) c.-69+1846C>A (n.-69+1846C>A) | dbSNP gnomAD v2 |
| 10 | g.49611045C= | CA1908792807 | CHAT,SLC18A3 | c.305C= (p.Thr102=) c.-69+1846C= (n.-69+1846C=) | |
| 10 | g.49611045C>G | CA376718170 | CHAT,SLC18A3 | c.305C>G (p.Thr102Arg) c.-69+1846C>G (n.-69+1846C>G) | |
| 10 | g.49611045C>T | CA376718171 | CHAT,SLC18A3 | c.305C>T (p.Thr102Ile) c.-69+1846C>T (n.-69+1846C>T) | |
| 10 | g.49611046A>C | CA469791067 | CHAT,SLC18A3 | c.306A>C (p.Thr102=) c.-69+1847A>C (n.-69+1847A>C) | |
| 10 | g.49611046A>G | CA469791063 | CHAT,SLC18A3 | c.306A>G (p.Thr102=) c.-69+1847A>G (n.-69+1847A>G) | |
| 10 | g.49611046A>T | CA469791065 | CHAT,SLC18A3 | c.306A>T (p.Thr102=) c.-69+1847A>T (n.-69+1847A>T) | |
| 10 | g.49611047G>A | CA376718174 | CHAT,SLC18A3 | c.307G>A (p.Ala103Thr) c.-69+1848G>A (n.-69+1848G>A) | |
| 10 | g.49611047G>C | CA376718173 | CHAT,SLC18A3 | c.307G>C (p.Ala103Pro) c.-69+1848G>C (n.-69+1848G>C) | dbSNP |
| 10 | g.49611047G>T | CA376718172 | CHAT,SLC18A3 | c.307G>T (p.Ala103Ser) c.-69+1848G>T (n.-69+1848G>T) | |
| 10 | g.49611048C>A | CA376718175 | CHAT,SLC18A3 | c.308C>A (p.Ala103Asp) c.-69+1849C>A (n.-69+1849C>A) | |
| 10 | g.49611048C>G | CA376718176 | CHAT,SLC18A3 | c.308C>G (p.Ala103Gly) c.-69+1849C>G (n.-69+1849C>G) | |
| 10 | g.49611048C>T | CA376718177 | CHAT,SLC18A3 | c.308C>T (p.Ala103Val) c.-69+1849C>T (n.-69+1849C>T) | |
| 10 | g.49611049T>A | CA469791069 | CHAT,SLC18A3 | c.309T>A (p.Ala103=) c.-69+1850T>A (n.-69+1850T>A) | |
| 10 | g.49611049T>C | CA469791071 | CHAT,SLC18A3 | c.309T>C (p.Ala103=) c.-69+1850T>C (n.-69+1850T>C) | |
| 10 | g.49611049T>G | CA469791070 | CHAT,SLC18A3 | c.309T>G (p.Ala103=) c.-69+1850T>G (n.-69+1850T>G) | |
| 10 | g.49611050G>A | CA5496740 | CHAT,SLC18A3 | c.310G>A (p.Ala104Thr) c.-69+1851G>A (n.-69+1851G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611050G>C | CA376718178 | CHAT,SLC18A3 | c.310G>C (p.Ala104Pro) c.-69+1851G>C (n.-69+1851G>C) | |
| 10 | g.49611050G= | CA1908792808 | CHAT,SLC18A3 | c.310G= (p.Ala104=) c.-69+1851G= (n.-69+1851G=) | |
| 10 | g.49611050G>T | CA376718179 | CHAT,SLC18A3 | c.310G>T (p.Ala104Ser) c.-69+1851G>T (n.-69+1851G>T) | |
| 10 | g.49611051C>A | CA376718180 | CHAT,SLC18A3 | c.311C>A (p.Ala104Glu) c.-69+1852C>A (n.-69+1852C>A) | dbSNP gnomAD v4 |
| 10 | g.49611051C= | CA1908792812 | CHAT,SLC18A3 | c.311C= (p.Ala104=) c.-69+1852C= (n.-69+1852C=) | |
| 10 | g.49611051C>G | CA376718181 | CHAT,SLC18A3 | c.311C>G (p.Ala104Gly) c.-69+1852C>G (n.-69+1852C>G) | |
| 10 | g.49611051C>T | CA5496741 | CHAT,SLC18A3 | c.311C>T (p.Ala104Val) c.-69+1852C>T (n.-69+1852C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611052G>A | CA5496742 | CHAT,SLC18A3 | c.312G>A (p.Ala104=) c.-69+1853G>A (n.-69+1853G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.49611052G>C | CA469791079 | CHAT,SLC18A3 | c.312G>C (p.Ala104=) c.-69+1853G>C (n.-69+1853G>C) | |
| 10 | g.49611052G= | CA1908792823 | CHAT,SLC18A3 | c.312G= (p.Ala104=) c.-69+1853G= (n.-69+1853G=) | |
| 10 | g.49611052G>T | CA469791075 | CHAT,SLC18A3 | c.312G>T (p.Ala104=) c.-69+1853G>T (n.-69+1853G>T) | |
| 10 | g.49611053T>A | CA376718182 | CHAT,SLC18A3 | c.313T>A (p.Trp105Arg) c.-69+1854T>A (n.-69+1854T>A) | |
| 10 | g.49611053T>C | CA376718183 | CHAT,SLC18A3 | c.313T>C (p.Trp105Arg) c.-69+1854T>C (n.-69+1854T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611053T>G | CA376718184 | CHAT,SLC18A3 | c.313T>G (p.Trp105Gly) c.-69+1854T>G (n.-69+1854T>G) | |
| 10 | g.49611053T= | CA1908792843 | CHAT,SLC18A3 | c.313T= (p.Trp105=) c.-69+1854T= (n.-69+1854T=) | |
| 10 | g.49611054G>A | CA376718187 | CHAT,SLC18A3 | c.314G>A (p.Trp105Ter) c.-69+1855G>A (n.-69+1855G>A) | |
| 10 | g.49611054G>C | CA376718186 | CHAT,SLC18A3 | c.314G>C (p.Trp105Ser) c.-69+1855G>C (n.-69+1855G>C) | |
| 10 | g.49611054G>T | CA376718185 | CHAT,SLC18A3 | c.314G>T (p.Trp105Leu) c.-69+1855G>T (n.-69+1855G>T) | |
| 10 | g.49611055G>A | CA376718188 | CHAT,SLC18A3 | c.315G>A (p.Trp105Ter) c.-69+1856G>A (n.-69+1856G>A) | gnomAD v4 |
| 10 | g.49611055G>C | CA376718189 | CHAT,SLC18A3 | c.315G>C (p.Trp105Cys) c.-69+1856G>C (n.-69+1856G>C) | |
| 10 | g.49611055G>T | CA376718190 | CHAT,SLC18A3 | c.315G>T (p.Trp105Cys) c.-69+1856G>T (n.-69+1856G>T) | |
| 10 | g.49611056C>A | CA376718191 | CHAT,SLC18A3 | c.316C>A (p.Pro106Thr) c.-69+1857C>A (n.-69+1857C>A) | |
| 10 | g.49611056C>G | CA376718192 | CHAT,SLC18A3 | c.316C>G (p.Pro106Ala) c.-69+1857C>G (n.-69+1857C>G) | |
| 10 | g.49611056C>T | CA376718193 | CHAT,SLC18A3 | c.316C>T (p.Pro106Ser) c.-69+1857C>T (n.-69+1857C>T) | |
| 10 | g.49611057C>A | CA376718194 | CHAT,SLC18A3 | c.317C>A (p.Pro106Gln) c.-69+1858C>A (n.-69+1858C>A) | |
| 10 | g.49611057C>G | CA376718195 | CHAT,SLC18A3 | c.317C>G (p.Pro106Arg) c.-69+1858C>G (n.-69+1858C>G) | |
| 10 | g.49611057C>T | CA376718196 | CHAT,SLC18A3 | c.317C>T (p.Pro106Leu) c.-69+1858C>T (n.-69+1858C>T) | gnomAD v4 COSMIC |
| 10 | g.49611058A= | CA1908792847 | CHAT,SLC18A3 | c.318A= (p.Pro106=) c.-69+1859A= (n.-69+1859A=) | |
| 10 | g.49611058A>C | CA469791086 | CHAT,SLC18A3 | c.318A>C (p.Pro106=) c.-69+1859A>C (n.-69+1859A>C) | |
| 10 | g.49611058A>G | CA5496743 | CHAT,SLC18A3 | c.318A>G (p.Pro106=) c.-69+1859A>G (n.-69+1859A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611058A>T | CA469791087 | CHAT,SLC18A3 | c.318A>T (p.Pro106=) c.-69+1859A>T (n.-69+1859A>T) | |
| 10 | g.49611059G>A | CA376718197 | CHAT,SLC18A3 | c.319G>A (p.Ala107Thr) c.-69+1860G>A (n.-69+1860G>A) | gnomAD v4 |
| 10 | g.49611059G>C | CA376718198 | CHAT,SLC18A3 | c.319G>C (p.Ala107Pro) c.-69+1860G>C (n.-69+1860G>C) | dbSNP gnomAD v4 |
| 10 | g.49611059G= | CA1908792850 | CHAT,SLC18A3 | c.319G= (p.Ala107=) c.-69+1860G= (n.-69+1860G=) | |
| 10 | g.49611059G>T | CA376718199 | CHAT,SLC18A3 | c.319G>T (p.Ala107Ser) c.-69+1860G>T (n.-69+1860G>T) | |
| 10 | g.49611060C>A | CA5496744 | CHAT,SLC18A3 | c.320C>A (p.Ala107Glu) c.-69+1861C>A (n.-69+1861C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611060C= | CA1908792853 | CHAT,SLC18A3 | c.320C= (p.Ala107=) c.-69+1861C= (n.-69+1861C=) | |
| 10 | g.49611060C>G | CA376718201 | CHAT,SLC18A3 | c.320C>G (p.Ala107Gly) c.-69+1861C>G (n.-69+1861C>G) | |
| 10 | g.49611060C>T | CA376718200 | CHAT,SLC18A3 | c.320C>T (p.Ala107Val) c.-69+1861C>T (n.-69+1861C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611061G>A | CA5496745 | CHAT,SLC18A3 | c.321G>A (p.Ala107=) c.-69+1862G>A (n.-69+1862G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611061G>C | CA469791092 | CHAT,SLC18A3 | c.321G>C (p.Ala107=) c.-69+1862G>C (n.-69+1862G>C) | |
| 10 | g.49611061G= | CA1908792856 | CHAT,SLC18A3 | c.321G= (p.Ala107=) c.-69+1862G= (n.-69+1862G=) | |
| 10 | g.49611061G>T | CA469791094 | CHAT,SLC18A3 | c.321G>T (p.Ala107=) c.-69+1862G>T (n.-69+1862G>T) | |
| 10 | g.49611062G>A | CA376718202 | CHAT,SLC18A3 | c.322G>A (p.Gly108Ser) c.-69+1863G>A (n.-69+1863G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611062G>C | CA5496746 | CHAT,SLC18A3 | c.322G>C (p.Gly108Arg) c.-69+1863G>C (n.-69+1863G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611062G= | CA1908792862 | CHAT,SLC18A3 | c.322G= (p.Gly108=) c.-69+1863G= (n.-69+1863G=) | |
| 10 | g.49611062G>T | CA376718203 | CHAT,SLC18A3 | c.322G>T (p.Gly108Cys) c.-69+1863G>T (n.-69+1863G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611063G>A | CA376718204 | CHAT,SLC18A3 | c.323G>A (p.Gly108Asp) c.-69+1864G>A (n.-69+1864G>A) | |
| 10 | g.49611063G>C | CA376718205 | CHAT,SLC18A3 | c.323G>C (p.Gly108Ala) c.-69+1864G>C (n.-69+1864G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611063G= | CA1908792866 | CHAT,SLC18A3 | c.323G= (p.Gly108=) c.-69+1864G= (n.-69+1864G=) | |
| 10 | g.49611063G>T | CA376718206 | CHAT,SLC18A3 | c.323G>T (p.Gly108Val) c.-69+1864G>T (n.-69+1864G>T) | |
| 10 | g.49611064C>A | CA469791098 | CHAT,SLC18A3 | c.324C>A (p.Gly108=) c.-69+1865C>A (n.-69+1865C>A) | |
| 10 | g.49611064C>G | CA469791096 | CHAT,SLC18A3 | c.324C>G (p.Gly108=) c.-69+1865C>G (n.-69+1865C>G) | |
| 10 | g.49611064C>T | CA469791097 | CHAT,SLC18A3 | c.324C>T (p.Gly108=) c.-69+1865C>T (n.-69+1865C>T) | |
| 10 | g.49611065T>A | CA376718207 | CHAT,SLC18A3 | c.325T>A (p.Ser109Thr) c.-69+1866T>A (n.-69+1866T>A) | |
| 10 | g.49611065T>C | CA376718208 | CHAT,SLC18A3 | c.325T>C (p.Ser109Pro) c.-69+1866T>C (n.-69+1866T>C) | dbSNP |
| 10 | g.49611065T>G | CA376718209 | CHAT,SLC18A3 | c.325T>G (p.Ser109Ala) c.-69+1866T>G (n.-69+1866T>G) | |
| 10 | g.49611065T= | CA1908792871 | CHAT,SLC18A3 | c.325T= (p.Ser109=) c.-69+1866T= (n.-69+1866T=) | |
| 10 | g.49611066C>A | CA376718210 | CHAT,SLC18A3 | c.326C>A (p.Ser109Ter) c.-69+1867C>A (n.-69+1867C>A) | COSMIC |
| 10 | g.49611066C= | CA1908792874 | CHAT,SLC18A3 | c.326C= (p.Ser109=) c.-69+1867C= (n.-69+1867C=) | |
| 10 | g.49611066C>G | CA376718211 | CHAT,SLC18A3 | c.326C>G (p.Ser109Ter) c.-69+1867C>G (n.-69+1867C>G) | |
| 10 | g.49611066C>T | CA5496747 | CHAT,SLC18A3 | c.326C>T (p.Ser109Leu) c.-69+1867C>T (n.-69+1867C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611067A>C | CA469791104 | CHAT,SLC18A3 | c.327A>C (p.Ser109=) c.-69+1868A>C (n.-69+1868A>C) | |
| 10 | g.49611067A>G | CA469791103 | CHAT,SLC18A3 | c.327A>G (p.Ser109=) c.-69+1868A>G (n.-69+1868A>G) | |
| 10 | g.49611067A>T | CA469791102 | CHAT,SLC18A3 | c.327A>T (p.Ser109=) c.-69+1868A>T (n.-69+1868A>T) | |
| 10 | g.49611068G>A | CA5496748 | CHAT,SLC18A3 | c.328G>A (p.Ala110Thr) c.-69+1869G>A (n.-69+1869G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611068G>C | CA376718212 | CHAT,SLC18A3 | c.328G>C (p.Ala110Pro) c.-69+1869G>C (n.-69+1869G>C) | |
| 10 | g.49611068G= | CA1908792885 | CHAT,SLC18A3 | c.328G= (p.Ala110=) c.-69+1869G= (n.-69+1869G=) | |
| 10 | g.49611068G>T | CA376718213 | CHAT,SLC18A3 | c.328G>T (p.Ala110Ser) c.-69+1869G>T (n.-69+1869G>T) | |
| 10 | g.49611068_49611069delinsGC | CA1908792883 | CHAT,SLC18A3 | c.328_329delinsGC (p.Ala110=) c.-69+1869_-69+1870delinsGC (n.-69+1869_-69+1870delinsGC) | |
| 10 | g.49611069C>A | CA206620946 | CHAT,SLC18A3 | c.329C>A (p.Ala110Asp) c.-69+1870C>A (n.-69+1870C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611069C= | CA1908792894 | CHAT,SLC18A3 | c.329C= (p.Ala110=) c.-69+1870C= (n.-69+1870C=) | |
| 10 | g.49611069C>G | CA376718214 | CHAT,SLC18A3 | c.329C>G (p.Ala110Gly) c.-69+1870C>G (n.-69+1870C>G) | |
| 10 | g.49611069C>T | CA376718215 | CHAT,SLC18A3 | c.329C>T (p.Ala110Val) c.-69+1870C>T (n.-69+1870C>T) | gnomAD v4 |
| 10 | g.49611071del | CA206620944 | CHAT,SLC18A3 | c.331del (p.Leu111PhefsTer12) c.-69+1872del (n.-69+1872del) | dbSNP |
| 10 | g.49611070C>A | CA469791109 | CHAT,SLC18A3 | c.330C>A (p.Ala110=) c.-69+1871C>A (n.-69+1871C>A) | |
| 10 | g.49611070C>G | CA469791108 | CHAT,SLC18A3 | c.330C>G (p.Ala110=) c.-69+1871C>G (n.-69+1871C>G) | |
| 10 | g.49611070C>T | CA469791110 | CHAT,SLC18A3 | c.330C>T (p.Ala110=) c.-69+1871C>T (n.-69+1871C>T) | |
| 10 | g.49611071C>A | CA376718216 | CHAT,SLC18A3 | c.331C>A (p.Leu111Ile) c.-69+1872C>A (n.-69+1872C>A) | |
| 10 | g.49611071C= | CA1908792898 | CHAT,SLC18A3 | c.331C= (p.Leu111=) c.-69+1872C= (n.-69+1872C=) | |
| 10 | g.49611071C>G | CA376718217 | CHAT,SLC18A3 | c.331C>G (p.Leu111Val) c.-69+1872C>G (n.-69+1872C>G) | |
| 10 | g.49611071C>T | CA376718218 | CHAT,SLC18A3 | c.331C>T (p.Leu111Phe) c.-69+1872C>T (n.-69+1872C>T) | dbSNP |
| 10 | g.49611072T>A | CA376718219 | CHAT,SLC18A3 | c.332T>A (p.Leu111His) c.-69+1873T>A (n.-69+1873T>A) | |
| 10 | g.49611072T>C | CA376718220 | CHAT,SLC18A3 | c.332T>C (p.Leu111Pro) c.-69+1873T>C (n.-69+1873T>C) | |
| 10 | g.49611072T>G | CA376718221 | CHAT,SLC18A3 | c.332T>G (p.Leu111Arg) c.-69+1873T>G (n.-69+1873T>G) | |
| 10 | g.49611073T>A | CA469791122 | CHAT,SLC18A3 | c.333T>A (p.Leu111=) c.-69+1874T>A (n.-69+1874T>A) | |
| 10 | g.49611073T>C | CA469791119 | CHAT,SLC18A3 | c.333T>C (p.Leu111=) c.-69+1874T>C (n.-69+1874T>C) | |
| 10 | g.49611073T>G | CA469791121 | CHAT,SLC18A3 | c.333T>G (p.Leu111=) c.-69+1874T>G (n.-69+1874T>G) | |
| 10 | g.49611074C>A | CA469791124 | CHAT,SLC18A3 | c.334C>A (p.Arg112=) c.-69+1875C>A (n.-69+1875C>A) | |
| 10 | g.49611074C= | CA1908792903 | CHAT,SLC18A3 | c.334C= (p.Arg112=) c.-69+1875C= (n.-69+1875C=) | |
| 10 | g.49611074C>G | CA376718222 | CHAT,SLC18A3 | c.334C>G (p.Arg112Gly) c.-69+1875C>G (n.-69+1875C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611074C>T | CA376718223 | CHAT,SLC18A3 | c.334C>T (p.Arg112Trp) c.-69+1875C>T (n.-69+1875C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611075G>A | CA376718224 | CHAT,SLC18A3 | c.335G>A (p.Arg112Gln) c.-69+1876G>A (n.-69+1876G>A) | |
| 10 | g.49611075G>C | CA376718226 | CHAT,SLC18A3 | c.335G>C (p.Arg112Pro) c.-69+1876G>C (n.-69+1876G>C) | gnomAD v4 |
| 10 | g.49611075G>T | CA376718225 | CHAT,SLC18A3 | c.335G>T (p.Arg112Leu) c.-69+1876G>T (n.-69+1876G>T) | |
| 10 | g.49611076G>A | CA469791131 | CHAT,SLC18A3 | c.336G>A (p.Arg112=) c.-69+1877G>A (n.-69+1877G>A) | gnomAD v4 |
| 10 | g.49611076G>C | CA469791130 | CHAT,SLC18A3 | c.336G>C (p.Arg112=) c.-69+1877G>C (n.-69+1877G>C) | |
| 10 | g.49611076G= | CA1908792907 | CHAT,SLC18A3 | c.336G= (p.Arg112=) c.-69+1877G= (n.-69+1877G=) | |
| 10 | g.49611076G>T | CA206620949 | CHAT,SLC18A3 | c.336G>T (p.Arg112=) c.-69+1877G>T (n.-69+1877G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611077C>A | CA376718228 | CHAT,SLC18A3 | c.337C>A (p.Pro113Thr) c.-69+1878C>A (n.-69+1878C>A) | |
| 10 | g.49611077C= | CA1908792913 | CHAT,SLC18A3 | c.337C= (p.Pro113=) c.-69+1878C= (n.-69+1878C=) | |
| 10 | g.49611077C>G | CA376718227 | CHAT,SLC18A3 | c.337C>G (p.Pro113Ala) c.-69+1878C>G (n.-69+1878C>G) | |
| 10 | g.49611077C>T | CA376718229 | CHAT,SLC18A3 | c.337C>T (p.Pro113Ser) c.-69+1878C>T (n.-69+1878C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611078_49611103dup | CA2609115060 | CHAT,SLC18A3 | c.338_363dup (p.Val122ProfsTer10) c.-69+1879_-69+1904dup (n.-69+1879_-69+1904dup) | gnomAD v4 |
| 10 | g.49611078C>A | CA376718230 | CHAT,SLC18A3 | c.338C>A (p.Pro113His) c.-69+1879C>A (n.-69+1879C>A) | gnomAD v4 |
| 10 | g.49611078C>G | CA376718231 | CHAT,SLC18A3 | c.338C>G (p.Pro113Arg) c.-69+1879C>G (n.-69+1879C>G) | |
| 10 | g.49611078C>T | CA376718232 | CHAT,SLC18A3 | c.338C>T (p.Pro113Leu) c.-69+1879C>T (n.-69+1879C>T) | |
| 10 | g.49611079C>A | CA469791140 | CHAT,SLC18A3 | c.339C>A (p.Pro113=) c.-69+1880C>A (n.-69+1880C>A) | |
| 10 | g.49611079C>G | CA469791138 | CHAT,SLC18A3 | c.339C>G (p.Pro113=) c.-69+1880C>G (n.-69+1880C>G) | |
| 10 | g.49611079C>T | CA469791139 | CHAT,SLC18A3 | c.339C>T (p.Pro113=) c.-69+1880C>T (n.-69+1880C>T) |