| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49611374C>A | CA376719839 | CHAT,SLC18A3 | c.634C>A (p.Arg212Ser) c.-69+2175C>A (n.-69+2175C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611374C= | CA1908793541 | CHAT,SLC18A3 | c.634C= (p.Arg212=) c.-69+2175C= (n.-69+2175C=) | |
| 10 | g.49611374C>G | CA376719842 | CHAT,SLC18A3 | c.634C>G (p.Arg212Gly) c.-69+2175C>G (n.-69+2175C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611374C>T | CA5496807 | CHAT,SLC18A3 | c.634C>T (p.Arg212Cys) c.-69+2175C>T (n.-69+2175C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611375G>A | CA376719859 | CHAT,SLC18A3 | c.635G>A (p.Arg212His) c.-69+2176G>A (n.-69+2176G>A) | dbSNP gnomAD v4 |
| 10 | g.49611375G>C | CA376719852 | CHAT,SLC18A3 | c.635G>C (p.Arg212Pro) c.-69+2176G>C (n.-69+2176G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611375G= | CA1908793550 | CHAT,SLC18A3 | c.635G= (p.Arg212=) c.-69+2176G= (n.-69+2176G=) | |
| 10 | g.49611375G>T | CA376719849 | CHAT,SLC18A3 | c.635G>T (p.Arg212Leu) c.-69+2176G>T (n.-69+2176G>T) | gnomAD v4 |
| 10 | g.49611376T>A | CA469791474 | CHAT,SLC18A3 | c.636T>A (p.Arg212=) c.-69+2177T>A (n.-69+2177T>A) | |
| 10 | g.49611376T>C | CA5496808 | CHAT,SLC18A3 | c.636T>C (p.Arg212=) c.-69+2177T>C (n.-69+2177T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611376T>G | CA469791475 | CHAT,SLC18A3 | c.636T>G (p.Arg212=) c.-69+2177T>G (n.-69+2177T>G) | |
| 10 | g.49611376T= | CA1908793560 | CHAT,SLC18A3 | c.636T= (p.Arg212=) c.-69+2177T= (n.-69+2177T=) | |
| 10 | g.49611377G>A | CA5496809 | CHAT,SLC18A3 | c.637G>A (p.Ala213Thr) c.-69+2178G>A (n.-69+2178G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611377G>C | CA376719865 | CHAT,SLC18A3 | c.637G>C (p.Ala213Pro) c.-69+2178G>C (n.-69+2178G>C) | |
| 10 | g.49611377G= | CA1908793569 | CHAT,SLC18A3 | c.637G= (p.Ala213=) c.-69+2178G= (n.-69+2178G=) | |
| 10 | g.49611377G>T | CA376719868 | CHAT,SLC18A3 | c.637G>T (p.Ala213Ser) c.-69+2178G>T (n.-69+2178G>T) | gnomAD v4 |
| 10 | g.49611378C>A | CA376719873 | CHAT,SLC18A3 | c.638C>A (p.Ala213Glu) c.-69+2179C>A (n.-69+2179C>A) | |
| 10 | g.49611378C= | CA1908793573 | CHAT,SLC18A3 | c.638C= (p.Ala213=) c.-69+2179C= (n.-69+2179C=) | |
| 10 | g.49611378C>G | CA376719876 | CHAT,SLC18A3 | c.638C>G (p.Ala213Gly) c.-69+2179C>G (n.-69+2179C>G) | |
| 10 | g.49611378C>T | CA376719883 | CHAT,SLC18A3 | c.638C>T (p.Ala213Val) c.-69+2179C>T (n.-69+2179C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611379A= | CA1908793577 | CHAT,SLC18A3 | c.639A= (p.Ala213=) c.-69+2180A= (n.-69+2180A=) | |
| 10 | g.49611379A>C | CA5496810 | CHAT,SLC18A3 | c.639A>C (p.Ala213=) c.-69+2180A>C (n.-69+2180A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611379A>G | CA469791489 | CHAT,SLC18A3 | c.639A>G (p.Ala213=) c.-69+2180A>G (n.-69+2180A>G) | |
| 10 | g.49611379A>T | CA469791492 | CHAT,SLC18A3 | c.639A>T (p.Ala213=) c.-69+2180A>T (n.-69+2180A>T) | |
| 10 | g.49611380C>A | CA376719887 | CHAT,SLC18A3 | c.640C>A (p.Leu214Met) c.-69+2181C>A (n.-69+2181C>A) | gnomAD v4 |
| 10 | g.49611380C>G | CA376719888 | CHAT,SLC18A3 | c.640C>G (p.Leu214Val) c.-69+2181C>G (n.-69+2181C>G) | |
| 10 | g.49611380C>T | CA469791493 | CHAT,SLC18A3 | c.640C>T (p.Leu214=) c.-69+2181C>T (n.-69+2181C>T) | gnomAD v4 |
| 10 | g.49611381T>A | CA376719892 | CHAT,SLC18A3 | c.641T>A (p.Leu214Gln) c.-69+2182T>A (n.-69+2182T>A) | |
| 10 | g.49611381T>C | CA376719895 | CHAT,SLC18A3 | c.641T>C (p.Leu214Pro) c.-69+2182T>C (n.-69+2182T>C) | gnomAD v4 |
| 10 | g.49611381T>G | CA376719898 | CHAT,SLC18A3 | c.641T>G (p.Leu214Arg) c.-69+2182T>G (n.-69+2182T>G) | |
| 10 | g.49611382G>A | CA5496811 | CHAT,SLC18A3 | c.642G>A (p.Leu214=) c.-69+2183G>A (n.-69+2183G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611382G>C | CA469791498 | CHAT,SLC18A3 | c.642G>C (p.Leu214=) c.-69+2183G>C (n.-69+2183G>C) | |
| 10 | g.49611382G= | CA1908793583 | CHAT,SLC18A3 | c.642G= (p.Leu214=) c.-69+2183G= (n.-69+2183G=) | |
| 10 | g.49611382G>T | CA469791502 | CHAT,SLC18A3 | c.642G>T (p.Leu214=) c.-69+2183G>T (n.-69+2183G>T) | gnomAD v4 |
| 10 | g.49611383G>A | CA376719918 | CHAT,SLC18A3 | c.643G>A (p.Gly215Ser) c.-69+2184G>A (n.-69+2184G>A) | |
| 10 | g.49611383G>C | CA376719905 | CHAT,SLC18A3 | c.643G>C (p.Gly215Arg) c.-69+2184G>C (n.-69+2184G>C) | |
| 10 | g.49611383G>T | CA376719917 | CHAT,SLC18A3 | c.643G>T (p.Gly215Cys) c.-69+2184G>T (n.-69+2184G>T) | |
| 10 | g.49611384G>A | CA376719921 | CHAT,SLC18A3 | c.644G>A (p.Gly215Asp) c.-69+2185G>A (n.-69+2185G>A) | gnomAD v4 |
| 10 | g.49611384G>C | CA376719923 | CHAT,SLC18A3 | c.644G>C (p.Gly215Ala) c.-69+2185G>C (n.-69+2185G>C) | |
| 10 | g.49611384G>T | CA376719925 | CHAT,SLC18A3 | c.644G>T (p.Gly215Val) c.-69+2185G>T (n.-69+2185G>T) | |
| 10 | g.49611385C>A | CA469791509 | CHAT,SLC18A3 | c.645C>A (p.Gly215=) c.-69+2186C>A (n.-69+2186C>A) | |
| 10 | g.49611385C= | CA1908793589 | CHAT,SLC18A3 | c.645C= (p.Gly215=) c.-69+2186C= (n.-69+2186C=) | |
| 10 | g.49611385C>G | CA5496812 | CHAT,SLC18A3 | c.645C>G (p.Gly215=) c.-69+2186C>G (n.-69+2186C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611385C>T | CA469791510 | CHAT,SLC18A3 | c.645C>T (p.Gly215=) c.-69+2186C>T (n.-69+2186C>T) | gnomAD v4 |
| 10 | g.49611386G>A | CA376719929 | CHAT,SLC18A3 | c.646G>A (p.Val216Met) c.-69+2187G>A (n.-69+2187G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.49611386G>C | CA376719933 | CHAT,SLC18A3 | c.646G>C (p.Val216Leu) c.-69+2187G>C (n.-69+2187G>C) | |
| 10 | g.49611386G= | CA1908793596 | CHAT,SLC18A3 | c.646G= (p.Val216=) c.-69+2187G= (n.-69+2187G=) | |
| 10 | g.49611386G>T | CA5496813 | CHAT,SLC18A3 | c.646G>T (p.Val216Leu) c.-69+2187G>T (n.-69+2187G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611387T>A | CA376719945 | CHAT,SLC18A3 | c.647T>A (p.Val216Glu) c.-69+2188T>A (n.-69+2188T>A) | |
| 10 | g.49611387T>C | CA376719947 | CHAT,SLC18A3 | c.647T>C (p.Val216Ala) c.-69+2188T>C (n.-69+2188T>C) | |
| 10 | g.49611387T>G | CA376719949 | CHAT,SLC18A3 | c.647T>G (p.Val216Gly) c.-69+2188T>G (n.-69+2188T>G) | |
| 10 | g.49611388G>A | CA469791519 | CHAT,SLC18A3 | c.648G>A (p.Val216=) c.-69+2189G>A (n.-69+2189G>A) | |
| 10 | g.49611388G>C | CA469791520 | CHAT,SLC18A3 | c.648G>C (p.Val216=) c.-69+2189G>C (n.-69+2189G>C) | |
| 10 | g.49611388G>T | CA469791521 | CHAT,SLC18A3 | c.648G>T (p.Val216=) c.-69+2189G>T (n.-69+2189G>T) | |
| 10 | g.49611389G>A | CA376719952 | CHAT,SLC18A3 | c.649G>A (p.Ala217Thr) c.-69+2190G>A (n.-69+2190G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611389G>C | CA376719955 | CHAT,SLC18A3 | c.649G>C (p.Ala217Pro) c.-69+2190G>C (n.-69+2190G>C) | |
| 10 | g.49611389G= | CA1908793600 | CHAT,SLC18A3 | c.649G= (p.Ala217=) c.-69+2190G= (n.-69+2190G=) | |
| 10 | g.49611389G>T | CA376719958 | CHAT,SLC18A3 | c.649G>T (p.Ala217Ser) c.-69+2190G>T (n.-69+2190G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611390C>A | CA376719963 | CHAT,SLC18A3 | c.650C>A (p.Ala217Glu) c.-69+2191C>A (n.-69+2191C>A) | |
| 10 | g.49611390C= | CA1908793603 | CHAT,SLC18A3 | c.650C= (p.Ala217=) c.-69+2191C= (n.-69+2191C=) | |
| 10 | g.49611390C>G | CA376719966 | CHAT,SLC18A3 | c.650C>G (p.Ala217Gly) c.-69+2191C>G (n.-69+2191C>G) | gnomAD v4 |
| 10 | g.49611390C>T | CA376719964 | CHAT,SLC18A3 | c.650C>T (p.Ala217Val) c.-69+2191C>T (n.-69+2191C>T) | dbSNP gnomAD v2 COSMIC |
| 10 | g.49611391G>A | CA5496814 | CHAT,SLC18A3 | c.651G>A (p.Ala217=) c.-69+2192G>A (n.-69+2192G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611391G>C | CA469791532 | CHAT,SLC18A3 | c.651G>C (p.Ala217=) c.-69+2192G>C (n.-69+2192G>C) | |
| 10 | g.49611391G= | CA1908793613 | CHAT,SLC18A3 | c.651G= (p.Ala217=) c.-69+2192G= (n.-69+2192G=) | |
| 10 | g.49611391G>T | CA469791534 | CHAT,SLC18A3 | c.651G>T (p.Ala217=) c.-69+2192G>T (n.-69+2192G>T) | dbSNP gnomAD v4 |
| 10 | g.49611392C>A | CA376719973 | CHAT,SLC18A3 | c.652C>A (p.Leu218Met) c.-69+2193C>A (n.-69+2193C>A) | |
| 10 | g.49611392C= | CA1908793625 | CHAT,SLC18A3 | c.652C= (p.Leu218=) c.-69+2193C= (n.-69+2193C=) | |
| 10 | g.49611392C>G | CA376719976 | CHAT,SLC18A3 | c.652C>G (p.Leu218Val) c.-69+2193C>G (n.-69+2193C>G) | dbSNP gnomAD v4 |
| 10 | g.49611392C>T | CA469791542 | CHAT,SLC18A3 | c.652C>T (p.Leu218=) c.-69+2193C>T (n.-69+2193C>T) | dbSNP gnomAD v4 |
| 10 | g.49611393T>A | CA376719981 | CHAT,SLC18A3 | c.653T>A (p.Leu218Gln) c.-69+2194T>A (n.-69+2194T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611393T>C | CA376719984 | CHAT,SLC18A3 | c.653T>C (p.Leu218Pro) c.-69+2194T>C (n.-69+2194T>C) | |
| 10 | g.49611393T>G | CA376719987 | CHAT,SLC18A3 | c.653T>G (p.Leu218Arg) c.-69+2194T>G (n.-69+2194T>G) | |
| 10 | g.49611393T= | CA1908793629 | CHAT,SLC18A3 | c.653T= (p.Leu218=) c.-69+2194T= (n.-69+2194T=) | |
| 10 | g.49611394G>A | CA469791553 | CHAT,SLC18A3 | c.654G>A (p.Leu218=) c.-69+2195G>A (n.-69+2195G>A) | |
| 10 | g.49611394G>C | CA469791555 | CHAT,SLC18A3 | c.654G>C (p.Leu218=) c.-69+2195G>C (n.-69+2195G>C) | |
| 10 | g.49611394G>T | CA469791556 | CHAT,SLC18A3 | c.654G>T (p.Leu218=) c.-69+2195G>T (n.-69+2195G>T) | |
| 10 | g.49611395G>A | CA376719991 | CHAT,SLC18A3 | c.655G>A (p.Ala219Thr) c.-69+2196G>A (n.-69+2196G>A) | gnomAD v4 |
| 10 | g.49611395G>C | CA376719992 | CHAT,SLC18A3 | c.655G>C (p.Ala219Pro) c.-69+2196G>C (n.-69+2196G>C) | |
| 10 | g.49611395G= | CA1908793635 | CHAT,SLC18A3 | c.655G= (p.Ala219=) c.-69+2196G= (n.-69+2196G=) | |
| 10 | g.49611395G>T | CA376719994 | CHAT,SLC18A3 | c.655G>T (p.Ala219Ser) c.-69+2196G>T (n.-69+2196G>T) | dbSNP COSMIC |
| 10 | g.49611396C>A | CA376719998 | CHAT,SLC18A3 | c.656C>A (p.Ala219Asp) c.-69+2197C>A (n.-69+2197C>A) | ClinVar dbSNP gnomAD v4 |
| 10 | g.49611396C>G | CA376720001 | CHAT,SLC18A3 | c.656C>G (p.Ala219Gly) c.-69+2197C>G (n.-69+2197C>G) | |
| 10 | g.49611396C>T | CA376720004 | CHAT,SLC18A3 | c.656C>T (p.Ala219Val) c.-69+2197C>T (n.-69+2197C>T) | gnomAD v4 |
| 10 | g.49611397C>A | CA469791560 | CHAT,SLC18A3 | c.657C>A (p.Ala219=) c.-69+2198C>A (n.-69+2198C>A) | |
| 10 | g.49611397C>G | CA469791559 | CHAT,SLC18A3 | c.657C>G (p.Ala219=) c.-69+2198C>G (n.-69+2198C>G) | |
| 10 | g.49611397C>T | CA469791561 | CHAT,SLC18A3 | c.657C>T (p.Ala219=) c.-69+2198C>T (n.-69+2198C>T) | gnomAD v4 |
| 10 | g.49611398T>A | CA376720012 | CHAT,SLC18A3 | c.658T>A (p.Phe220Ile) c.-69+2199T>A (n.-69+2199T>A) | |
| 10 | g.49611398T>C | CA376720007 | CHAT,SLC18A3 | c.658T>C (p.Phe220Leu) c.-69+2199T>C (n.-69+2199T>C) | |
| 10 | g.49611398T>G | CA376720009 | CHAT,SLC18A3 | c.658T>G (p.Phe220Val) c.-69+2199T>G (n.-69+2199T>G) | |
| 10 | g.49611399T>A | CA376720014 | CHAT,SLC18A3 | c.659T>A (p.Phe220Tyr) c.-69+2200T>A (n.-69+2200T>A) | |
| 10 | g.49611399T>C | CA376720015 | CHAT,SLC18A3 | c.659T>C (p.Phe220Ser) c.-69+2200T>C (n.-69+2200T>C) | |
| 10 | g.49611399T>G | CA376720017 | CHAT,SLC18A3 | c.659T>G (p.Phe220Cys) c.-69+2200T>G (n.-69+2200T>G) | |
| 10 | g.49611400C>A | CA376720021 | CHAT,SLC18A3 | c.660C>A (p.Phe220Leu) c.-69+2201C>A (n.-69+2201C>A) | |
| 10 | g.49611400C>G | CA376720025 | CHAT,SLC18A3 | c.660C>G (p.Phe220Leu) c.-69+2201C>G (n.-69+2201C>G) | |
| 10 | g.49611400C>T | CA469791568 | CHAT,SLC18A3 | c.660C>T (p.Phe220=) c.-69+2201C>T (n.-69+2201C>T) | |
| 10 | g.49611401A>C | CA376720027 | CHAT,SLC18A3 | c.661A>C (p.Ile221Leu) c.-69+2202A>C (n.-69+2202A>C) | gnomAD v4 |
| 10 | g.49611401A>G | CA376720029 | CHAT,SLC18A3 | c.661A>G (p.Ile221Val) c.-69+2202A>G (n.-69+2202A>G) | ClinVar dbSNP gnomAD v4 |
| 10 | g.49611401A>T | CA376720032 | CHAT,SLC18A3 | c.661A>T (p.Ile221Phe) c.-69+2202A>T (n.-69+2202A>T) | |
| 10 | g.49611402T>A | CA376720036 | CHAT,SLC18A3 | c.662T>A (p.Ile221Asn) c.-69+2203T>A (n.-69+2203T>A) | |
| 10 | g.49611402T>C | CA376720038 | CHAT,SLC18A3 | c.662T>C (p.Ile221Thr) c.-69+2203T>C (n.-69+2203T>C) | |
| 10 | g.49611402T>G | CA376720041 | CHAT,SLC18A3 | c.662T>G (p.Ile221Ser) c.-69+2203T>G (n.-69+2203T>G) | |
| 10 | g.49611403T>A | CA469791598 | CHAT,SLC18A3 | c.663T>A (p.Ile221=) c.-69+2204T>A (n.-69+2204T>A) | |
| 10 | g.49611403T>C | CA469791580 | CHAT,SLC18A3 | c.663T>C (p.Ile221=) c.-69+2204T>C (n.-69+2204T>C) | |
| 10 | g.49611403T>G | CA376720045 | CHAT,SLC18A3 | c.663T>G (p.Ile221Met) c.-69+2204T>G (n.-69+2204T>G) | |
| 10 | g.49611403_49611404delinsTA | CA1908793640 | CHAT,SLC18A3 | c.663_664delinsTA (p.Ile221=) c.-69+2204_-69+2205delinsTA (n.-69+2204_-69+2205delinsTA) | |
| 10 | g.49611404del | CA593780768 | CHAT,SLC18A3 | c.664del (p.Ser222AlafsTer5) c.-69+2205del (n.-69+2205del) | dbSNP gnomAD v2 |
| 10 | g.49611404A>C | CA376720063 | CHAT,SLC18A3 | c.664A>C (p.Ser222Arg) c.-69+2205A>C (n.-69+2205A>C) | |
| 10 | g.49611404A>G | CA376720058 | CHAT,SLC18A3 | c.664A>G (p.Ser222Gly) c.-69+2205A>G (n.-69+2205A>G) | |
| 10 | g.49611404A>T | CA376720056 | CHAT,SLC18A3 | c.664A>T (p.Ser222Cys) c.-69+2205A>T (n.-69+2205A>T) | |
| 10 | g.49611405G>A | CA376720068 | CHAT,SLC18A3 | c.665G>A (p.Ser222Asn) c.-69+2206G>A (n.-69+2206G>A) | |
| 10 | g.49611405G>C | CA376720066 | CHAT,SLC18A3 | c.665G>C (p.Ser222Thr) c.-69+2206G>C (n.-69+2206G>C) | dbSNP gnomAD v2 |
| 10 | g.49611405G= | CA1908793648 | CHAT,SLC18A3 | c.665G= (p.Ser222=) c.-69+2206G= (n.-69+2206G=) | |
| 10 | g.49611405G>T | CA376720070 | CHAT,SLC18A3 | c.665G>T (p.Ser222Ile) c.-69+2206G>T (n.-69+2206G>T) | |
| 10 | g.49611406C>A | CA376720073 | CHAT,SLC18A3 | c.666C>A (p.Ser222Arg) c.-69+2207C>A (n.-69+2207C>A) | |
| 10 | g.49611406C= | CA1908793656 | CHAT,SLC18A3 | c.666C= (p.Ser222=) c.-69+2207C= (n.-69+2207C=) | |
| 10 | g.49611406C>G | CA376720076 | CHAT,SLC18A3 | c.666C>G (p.Ser222Arg) c.-69+2207C>G (n.-69+2207C>G) | dbSNP |
| 10 | g.49611406C>T | CA469791606 | CHAT,SLC18A3 | c.666C>T (p.Ser222=) c.-69+2207C>T (n.-69+2207C>T) | dbSNP gnomAD v4 |
| 10 | g.49611407T>A | CA376720078 | CHAT,SLC18A3 | c.667T>A (p.Phe223Ile) c.-69+2208T>A (n.-69+2208T>A) | |
| 10 | g.49611407T>C | CA376720081 | CHAT,SLC18A3 | c.667T>C (p.Phe223Leu) c.-69+2208T>C (n.-69+2208T>C) | |
| 10 | g.49611407T>G | CA376720085 | CHAT,SLC18A3 | c.667T>G (p.Phe223Val) c.-69+2208T>G (n.-69+2208T>G) | |
| 10 | g.49611408T>A | CA376720089 | CHAT,SLC18A3 | c.668T>A (p.Phe223Tyr) c.-69+2209T>A (n.-69+2209T>A) | |
| 10 | g.49611408T>C | CA376720092 | CHAT,SLC18A3 | c.668T>C (p.Phe223Ser) c.-69+2209T>C (n.-69+2209T>C) | |
| 10 | g.49611408T>G | CA376720097 | CHAT,SLC18A3 | c.668T>G (p.Phe223Cys) c.-69+2209T>G (n.-69+2209T>G) | |
| 10 | g.49611409C>A | CA376720102 | CHAT,SLC18A3 | c.669C>A (p.Phe223Leu) c.-69+2210C>A (n.-69+2210C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611409C= | CA1908793663 | CHAT,SLC18A3 | c.669C= (p.Phe223=) c.-69+2210C= (n.-69+2210C=) | |
| 10 | g.49611409C>G | CA376720104 | CHAT,SLC18A3 | c.669C>G (p.Phe223Leu) c.-69+2210C>G (n.-69+2210C>G) | gnomAD v4 |
| 10 | g.49611409C>T | CA5496815 | CHAT,SLC18A3 | c.669C>T (p.Phe223=) c.-69+2210C>T (n.-69+2210C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.49611410G>A | CA376720109 | CHAT,SLC18A3 | c.670G>A (p.Gly224Arg) c.-69+2211G>A (n.-69+2211G>A) | COSMIC |
| 10 | g.49611410G>C | CA376720110 | CHAT,SLC18A3 | c.670G>C (p.Gly224Arg) c.-69+2211G>C (n.-69+2211G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611410G= | CA1908793666 | CHAT,SLC18A3 | c.670G= (p.Gly224=) c.-69+2211G= (n.-69+2211G=) | |
| 10 | g.49611410G>T | CA206621135 | CHAT,SLC18A3 | c.670G>T (p.Gly224Ter) c.-69+2211G>T (n.-69+2211G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611411G>A | CA376720121 | CHAT,SLC18A3 | c.671G>A (p.Gly224Glu) c.-69+2212G>A (n.-69+2212G>A) | |
| 10 | g.49611411G>C | CA376720118 | CHAT,SLC18A3 | c.671G>C (p.Gly224Ala) c.-69+2212G>C (n.-69+2212G>C) | |
| 10 | g.49611411G>T | CA376720117 | CHAT,SLC18A3 | c.671G>T (p.Gly224Val) c.-69+2212G>T (n.-69+2212G>T) | |
| 10 | g.49611411_49611412delinsGA | CA1908793668 | CHAT,SLC18A3 | c.671_672delinsGA (p.Gly224=) c.-69+2212_-69+2213delinsGA (n.-69+2212_-69+2213delinsGA) | |
| 10 | g.49611412A>C | CA469791630 | CHAT,SLC18A3 | c.672A>C (p.Gly224=) c.-69+2213A>C (n.-69+2213A>C) | |
| 10 | g.49611412A>G | CA469791632 | CHAT,SLC18A3 | c.672A>G (p.Gly224=) c.-69+2213A>G (n.-69+2213A>G) | |
| 10 | g.49611412A>T | CA469791634 | CHAT,SLC18A3 | c.672A>T (p.Gly224=) c.-69+2213A>T (n.-69+2213A>T) | |
| 10 | g.49611413del | CA5496816 | CHAT,SLC18A3 | c.673del (p.Ser225AlafsTer2) c.-69+2214del (n.-69+2214del) | dbSNP ExAC gnomAD v2 |
| 10 | g.49611413A>C | CA376720129 | CHAT,SLC18A3 | c.673A>C (p.Ser225Arg) c.-69+2214A>C (n.-69+2214A>C) | |
| 10 | g.49611413A>G | CA376720132 | CHAT,SLC18A3 | c.673A>G (p.Ser225Gly) c.-69+2214A>G (n.-69+2214A>G) | |
| 10 | g.49611413A>T | CA376720136 | CHAT,SLC18A3 | c.673A>T (p.Ser225Cys) c.-69+2214A>T (n.-69+2214A>T) | |
| 10 | g.49611414G>A | CA376720138 | CHAT,SLC18A3 | c.674G>A (p.Ser225Asn) c.-69+2215G>A (n.-69+2215G>A) | gnomAD v4 |
| 10 | g.49611414G>C | CA376720143 | CHAT,SLC18A3 | c.674G>C (p.Ser225Thr) c.-69+2215G>C (n.-69+2215G>C) | |
| 10 | g.49611414G= | CA1908793675 | CHAT,SLC18A3 | c.674G= (p.Ser225=) c.-69+2215G= (n.-69+2215G=) | |
| 10 | g.49611414G>T | CA5496817 | CHAT,SLC18A3 | c.674G>T (p.Ser225Ile) c.-69+2215G>T (n.-69+2215G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611415C>A | CA376720146 | CHAT,SLC18A3 | c.675C>A (p.Ser225Arg) c.-69+2216C>A (n.-69+2216C>A) | |
| 10 | g.49611415C= | CA1908793684 | CHAT,SLC18A3 | c.675C= (p.Ser225=) c.-69+2216C= (n.-69+2216C=) | |
| 10 | g.49611415C>G | CA376720149 | CHAT,SLC18A3 | c.675C>G (p.Ser225Arg) c.-69+2216C>G (n.-69+2216C>G) | gnomAD v4 |
| 10 | g.49611415C>T | CA5496818 | CHAT,SLC18A3 | c.675C>T (p.Ser225=) c.-69+2216C>T (n.-69+2216C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611416C>A | CA376720154 | CHAT,SLC18A3 | c.676C>A (p.Leu226Ile) c.-69+2217C>A (n.-69+2217C>A) | |
| 10 | g.49611416C>G | CA376720156 | CHAT,SLC18A3 | c.676C>G (p.Leu226Val) c.-69+2217C>G (n.-69+2217C>G) | |
| 10 | g.49611416C>T | CA469791638 | CHAT,SLC18A3 | c.676C>T (p.Leu226=) c.-69+2217C>T (n.-69+2217C>T) | gnomAD v4 |
| 10 | g.49611417T>A | CA376720165 | CHAT,SLC18A3 | c.677T>A (p.Leu226Gln) c.-69+2218T>A (n.-69+2218T>A) | |
| 10 | g.49611417T>C | CA5496819 | CHAT,SLC18A3 | c.677T>C (p.Leu226Pro) c.-69+2218T>C (n.-69+2218T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611417T>G | CA376720161 | CHAT,SLC18A3 | c.677T>G (p.Leu226Arg) c.-69+2218T>G (n.-69+2218T>G) | |
| 10 | g.49611417T= | CA1908793687 | CHAT,SLC18A3 | c.677T= (p.Leu226=) c.-69+2218T= (n.-69+2218T=) | |
| 10 | g.49611418A= | CA1908793691 | CHAT,SLC18A3 | c.678A= (p.Leu226=) c.-69+2219A= (n.-69+2219A=) | |
| 10 | g.49611418A>C | CA469791646 | CHAT,SLC18A3 | c.678A>C (p.Leu226=) c.-69+2219A>C (n.-69+2219A>C) | |
| 10 | g.49611418A>G | CA469791644 | CHAT,SLC18A3 | c.678A>G (p.Leu226=) c.-69+2219A>G (n.-69+2219A>G) | |
| 10 | g.49611418A>T | CA5496820 | CHAT,SLC18A3 | c.678A>T (p.Leu226=) c.-69+2219A>T (n.-69+2219A>T) | dbSNP ExAC gnomAD v2 |
| 10 | g.49611419G>A | CA376720170 | CHAT,SLC18A3 | c.679G>A (p.Val227Met) c.-69+2220G>A (n.-69+2220G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611419G>C | CA376720173 | CHAT,SLC18A3 | c.679G>C (p.Val227Leu) c.-69+2220G>C (n.-69+2220G>C) | |
| 10 | g.49611419G= | CA1908793695 | CHAT,SLC18A3 | c.679G= (p.Val227=) c.-69+2220G= (n.-69+2220G=) | |
| 10 | g.49611419G>T | CA376720176 | CHAT,SLC18A3 | c.679G>T (p.Val227Leu) c.-69+2220G>T (n.-69+2220G>T) | |
| 10 | g.49611420T>A | CA376720182 | CHAT,SLC18A3 | c.680T>A (p.Val227Glu) c.-69+2221T>A (n.-69+2221T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611420T>C | CA5496822 | CHAT,SLC18A3 | c.680T>C (p.Val227Ala) c.-69+2221T>C (n.-69+2221T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611420T>G | CA5496821 | CHAT,SLC18A3 | c.680T>G (p.Val227Gly) c.-69+2221T>G (n.-69+2221T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611420T= | CA1908793699 | CHAT,SLC18A3 | c.680T= (p.Val227=) c.-69+2221T= (n.-69+2221T=) | |
| 10 | g.49611421G>A | CA469791658 | CHAT,SLC18A3 | c.681G>A (p.Val227=) c.-69+2222G>A (n.-69+2222G>A) | |
| 10 | g.49611421G>C | CA469791661 | CHAT,SLC18A3 | c.681G>C (p.Val227=) c.-69+2222G>C (n.-69+2222G>C) | |
| 10 | g.49611421G>T | CA469791660 | CHAT,SLC18A3 | c.681G>T (p.Val227=) c.-69+2222G>T (n.-69+2222G>T) | |
| 10 | g.49611422G>A | CA376720189 | CHAT,SLC18A3 | c.682G>A (p.Ala228Thr) c.-69+2223G>A (n.-69+2223G>A) | dbSNP gnomAD v4 |
| 10 | g.49611422G>C | CA376720195 | CHAT,SLC18A3 | c.682G>C (p.Ala228Pro) c.-69+2223G>C (n.-69+2223G>C) | |
| 10 | g.49611422G= | CA1908793712 | CHAT,SLC18A3 | c.682G= (p.Ala228=) c.-69+2223G= (n.-69+2223G=) | |
| 10 | g.49611422G>T | CA376720192 | CHAT,SLC18A3 | c.682G>T (p.Ala228Ser) c.-69+2223G>T (n.-69+2223G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611423C>A | CA376720198 | CHAT,SLC18A3 | c.683C>A (p.Ala228Asp) c.-69+2224C>A (n.-69+2224C>A) | gnomAD v4 |
| 10 | g.49611423C>G | CA376720201 | CHAT,SLC18A3 | c.683C>G (p.Ala228Gly) c.-69+2224C>G (n.-69+2224C>G) | |
| 10 | g.49611423C>T | CA376720203 | CHAT,SLC18A3 | c.683C>T (p.Ala228Val) c.-69+2224C>T (n.-69+2224C>T) | |
| 10 | g.49611424C>A | CA469791670 | CHAT,SLC18A3 | c.684C>A (p.Ala228=) c.-69+2225C>A (n.-69+2225C>A) | |
| 10 | g.49611424C= | CA1908793717 | CHAT,SLC18A3 | c.684C= (p.Ala228=) c.-69+2225C= (n.-69+2225C=) | |
| 10 | g.49611424C>G | CA469791671 | CHAT,SLC18A3 | c.684C>G (p.Ala228=) c.-69+2225C>G (n.-69+2225C>G) | |
| 10 | g.49611424C>T | CA5496823 | CHAT,SLC18A3 | c.684C>T (p.Ala228=) c.-69+2225C>T (n.-69+2225C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611425C>A | CA376720212 | CHAT,SLC18A3 | c.685C>A (p.Pro229Thr) c.-69+2226C>A (n.-69+2226C>A) | |
| 10 | g.49611425C>G | CA376720219 | CHAT,SLC18A3 | c.685C>G (p.Pro229Ala) c.-69+2226C>G (n.-69+2226C>G) | |
| 10 | g.49611425C>T | CA376720216 | CHAT,SLC18A3 | c.685C>T (p.Pro229Ser) c.-69+2226C>T (n.-69+2226C>T) | |
| 10 | g.49611426C>A | CA376720224 | CHAT,SLC18A3 | c.686C>A (p.Pro229Gln) c.-69+2227C>A (n.-69+2227C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611426C= | CA1908793722 | CHAT,SLC18A3 | c.686C= (p.Pro229=) c.-69+2227C= (n.-69+2227C=) | |
| 10 | g.49611426C>G | CA376720227 | CHAT,SLC18A3 | c.686C>G (p.Pro229Arg) c.-69+2227C>G (n.-69+2227C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611426C>T | CA206621152 | CHAT,SLC18A3 | c.686C>T (p.Pro229Leu) c.-69+2227C>T (n.-69+2227C>T) | dbSNP gnomAD v4 |
| 10 | g.49611427G>A | CA469791677 | CHAT,SLC18A3 | c.687G>A (p.Pro229=) c.-69+2228G>A (n.-69+2228G>A) | |
| 10 | g.49611427G>C | CA469791678 | CHAT,SLC18A3 | c.687G>C (p.Pro229=) c.-69+2228G>C (n.-69+2228G>C) | |
| 10 | g.49611427G= | CA1908793728 | CHAT,SLC18A3 | c.687G= (p.Pro229=) c.-69+2228G= (n.-69+2228G=) | |
| 10 | g.49611427G>T | CA5496824 | CHAT,SLC18A3 | c.687G>T (p.Pro229=) c.-69+2228G>T (n.-69+2228G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611428C>A | CA376720237 | CHAT,SLC18A3 | c.688C>A (p.Pro230Thr) c.-69+2229C>A (n.-69+2229C>A) | |
| 10 | g.49611428C>G | CA376720240 | CHAT,SLC18A3 | c.688C>G (p.Pro230Ala) c.-69+2229C>G (n.-69+2229C>G) | |
| 10 | g.49611428C>T | CA376720243 | CHAT,SLC18A3 | c.688C>T (p.Pro230Ser) c.-69+2229C>T (n.-69+2229C>T) | gnomAD v4 COSMIC |
| 10 | g.49611429C>A | CA376720248 | CHAT,SLC18A3 | c.689C>A (p.Pro230His) c.-69+2230C>A (n.-69+2230C>A) | |
| 10 | g.49611429C>G | CA376720250 | CHAT,SLC18A3 | c.689C>G (p.Pro230Arg) c.-69+2230C>G (n.-69+2230C>G) | |
| 10 | g.49611429C>T | CA376720254 | CHAT,SLC18A3 | c.689C>T (p.Pro230Leu) c.-69+2230C>T (n.-69+2230C>T) | |
| 10 | g.49611430C>A | CA469791691 | CHAT,SLC18A3 | c.690C>A (p.Pro230=) c.-69+2231C>A (n.-69+2231C>A) | |
| 10 | g.49611430C= | CA1908793730 | CHAT,SLC18A3 | c.690C= (p.Pro230=) c.-69+2231C= (n.-69+2231C=) | |
| 10 | g.49611430C>G | CA469791687 | CHAT,SLC18A3 | c.690C>G (p.Pro230=) c.-69+2231C>G (n.-69+2231C>G) | |
| 10 | g.49611430C>T | CA469791692 | CHAT,SLC18A3 | c.690C>T (p.Pro230=) c.-69+2231C>T (n.-69+2231C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611431T>A | CA376720265 | CHAT,SLC18A3 | c.691T>A (p.Phe231Ile) c.-69+2232T>A (n.-69+2232T>A) | |
| 10 | g.49611431T>C | CA376720261 | CHAT,SLC18A3 | c.691T>C (p.Phe231Leu) c.-69+2232T>C (n.-69+2232T>C) | dbSNP gnomAD v2 |
| 10 | g.49611431T>G | CA376720258 | CHAT,SLC18A3 | c.691T>G (p.Phe231Val) c.-69+2232T>G (n.-69+2232T>G) | |
| 10 | g.49611431T= | CA1908793734 | CHAT,SLC18A3 | c.691T= (p.Phe231=) c.-69+2232T= (n.-69+2232T=) | |
| 10 | g.49611432T>A | CA376720270 | CHAT,SLC18A3 | c.692T>A (p.Phe231Tyr) c.-69+2233T>A (n.-69+2233T>A) | |
| 10 | g.49611432T>C | CA376720273 | CHAT,SLC18A3 | c.692T>C (p.Phe231Ser) c.-69+2233T>C (n.-69+2233T>C) | |
| 10 | g.49611432T>G | CA376720276 | CHAT,SLC18A3 | c.692T>G (p.Phe231Cys) c.-69+2233T>G (n.-69+2233T>G) | |
| 10 | g.49611433C>A | CA376720281 | CHAT,SLC18A3 | c.693C>A (p.Phe231Leu) c.-69+2234C>A (n.-69+2234C>A) | dbSNP |
| 10 | g.49611433C= | CA1908793736 | CHAT,SLC18A3 | c.693C= (p.Phe231=) c.-69+2234C= (n.-69+2234C=) | |
| 10 | g.49611433C>G | CA376720282 | CHAT,SLC18A3 | c.693C>G (p.Phe231Leu) c.-69+2234C>G (n.-69+2234C>G) | |
| 10 | g.49611433C>T | CA469791702 | CHAT,SLC18A3 | c.693C>T (p.Phe231=) c.-69+2234C>T (n.-69+2234C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611434G>A | CA376720293 | CHAT,SLC18A3 | c.694G>A (p.Gly232Arg) c.-69+2235G>A (n.-69+2235G>A) | dbSNP gnomAD v4 |
| 10 | g.49611434G>C | CA376720290 | CHAT,SLC18A3 | c.694G>C (p.Gly232Arg) c.-69+2235G>C (n.-69+2235G>C) | |
| 10 | g.49611434G= | CA1908793741 | CHAT,SLC18A3 | c.694G= (p.Gly232=) c.-69+2235G= (n.-69+2235G=) | |
| 10 | g.49611434G>T | CA376720287 | CHAT,SLC18A3 | c.694G>T (p.Gly232Trp) c.-69+2235G>T (n.-69+2235G>T) | |
| 10 | g.49611438dup | CA2609115948 | CHAT,SLC18A3 | c.698dup (p.Ile234HisfsTer4) c.-69+2239dup (n.-69+2239dup) | gnomAD v4 |
| 10 | g.49611438del | CA2609115952 | CHAT,SLC18A3 | c.698del (p.Gly233AlafsTer16) c.-69+2239del (n.-69+2239del) | gnomAD v4 |
| 10 | g.49611435G>A | CA376720297 | CHAT,SLC18A3 | c.695G>A (p.Gly232Glu) c.-69+2236G>A (n.-69+2236G>A) | |
| 10 | g.49611435G>C | CA376720299 | CHAT,SLC18A3 | c.695G>C (p.Gly232Ala) c.-69+2236G>C (n.-69+2236G>C) | gnomAD v4 |
| 10 | g.49611435G>T | CA376720302 | CHAT,SLC18A3 | c.695G>T (p.Gly232Val) c.-69+2236G>T (n.-69+2236G>T) | |
| 10 | g.49611436G>A | CA469791714 | CHAT,SLC18A3 | c.696G>A (p.Gly232=) c.-69+2237G>A (n.-69+2237G>A) | gnomAD v4 |
| 10 | g.49611436G>C | CA469791715 | CHAT,SLC18A3 | c.696G>C (p.Gly232=) c.-69+2237G>C (n.-69+2237G>C) | |
| 10 | g.49611436G>T | CA469791713 | CHAT,SLC18A3 | c.696G>T (p.Gly232=) c.-69+2237G>T (n.-69+2237G>T) | |
| 10 | g.49611437G>A | CA376720306 | CHAT,SLC18A3 | c.697G>A (p.Gly233Ser) c.-69+2238G>A (n.-69+2238G>A) | |
| 10 | g.49611437G>C | CA376720309 | CHAT,SLC18A3 | c.697G>C (p.Gly233Arg) c.-69+2238G>C (n.-69+2238G>C) | |
| 10 | g.49611437G= | CA1908793751 | CHAT,SLC18A3 | c.697G= (p.Gly233=) c.-69+2238G= (n.-69+2238G=) | |
| 10 | g.49611437G>T | CA376720311 | CHAT,SLC18A3 | c.697G>T (p.Gly233Cys) c.-69+2238G>T (n.-69+2238G>T) | dbSNP gnomAD v4 |
| 10 | g.49611441_49611461dup | CA2609115962 | CHAT,SLC18A3 | c.701_721dup (p.Gly240_Lys241insIleLeuTyrGluPheAlaGly) c.-69+2242_-69+2262dup (n.-69+2242_-69+2262dup) | gnomAD v4 |
| 10 | g.49611438G>A | CA206621157 | CHAT,SLC18A3 | c.698G>A (p.Gly233Asp) c.-69+2239G>A (n.-69+2239G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.49611438G>C | CA376720315 | CHAT,SLC18A3 | c.698G>C (p.Gly233Ala) c.-69+2239G>C (n.-69+2239G>C) | |
| 10 | g.49611438G= | CA1908793757 | CHAT,SLC18A3 | c.698G= (p.Gly233=) c.-69+2239G= (n.-69+2239G=) | |
| 10 | g.49611438G>T | CA376720319 | CHAT,SLC18A3 | c.698G>T (p.Gly233Val) c.-69+2239G>T (n.-69+2239G>T) | gnomAD v4 |
| 10 | g.49611439C>A | CA469791725 | CHAT,SLC18A3 | c.699C>A (p.Gly233=) c.-69+2240C>A (n.-69+2240C>A) | |
| 10 | g.49611439C>G | CA469791724 | CHAT,SLC18A3 | c.699C>G (p.Gly233=) c.-69+2240C>G (n.-69+2240C>G) | |
| 10 | g.49611439C>T | CA469791727 | CHAT,SLC18A3 | c.699C>T (p.Gly233=) c.-69+2240C>T (n.-69+2240C>T) | gnomAD v4 |
| 10 | g.49611440A>C | CA376720323 | CHAT,SLC18A3 | c.700A>C (p.Ile234Leu) c.-69+2241A>C (n.-69+2241A>C) | |
| 10 | g.49611440A>G | CA376720327 | CHAT,SLC18A3 | c.700A>G (p.Ile234Val) c.-69+2241A>G (n.-69+2241A>G) | |
| 10 | g.49611440A>T | CA376720330 | CHAT,SLC18A3 | c.700A>T (p.Ile234Phe) c.-69+2241A>T (n.-69+2241A>T) | gnomAD v4 |
| 10 | g.49611441T>A | CA376720335 | CHAT,SLC18A3 | c.701T>A (p.Ile234Asn) c.-69+2242T>A (n.-69+2242T>A) | dbSNP |
| 10 | g.49611441T>C | CA376720338 | CHAT,SLC18A3 | c.701T>C (p.Ile234Thr) c.-69+2242T>C (n.-69+2242T>C) | |
| 10 | g.49611441T>G | CA376720342 | CHAT,SLC18A3 | c.701T>G (p.Ile234Ser) c.-69+2242T>G (n.-69+2242T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611441T= | CA1908793760 | CHAT,SLC18A3 | c.701T= (p.Ile234=) c.-69+2242T= (n.-69+2242T=) | |
| 10 | g.49611442C>A | CA469791736 | CHAT,SLC18A3 | c.702C>A (p.Ile234=) c.-69+2243C>A (n.-69+2243C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611442C= | CA1908793764 | CHAT,SLC18A3 | c.702C= (p.Ile234=) c.-69+2243C= (n.-69+2243C=) | |
| 10 | g.49611442C>G | CA376720346 | CHAT,SLC18A3 | c.702C>G (p.Ile234Met) c.-69+2243C>G (n.-69+2243C>G) | |
| 10 | g.49611442C>T | CA469791738 | CHAT,SLC18A3 | c.702C>T (p.Ile234=) c.-69+2243C>T (n.-69+2243C>T) | |
| 10 | g.49611443C>A | CA376720350 | CHAT,SLC18A3 | c.703C>A (p.Leu235Ile) c.-69+2244C>A (n.-69+2244C>A) | |
| 10 | g.49611443C>G | CA376720352 | CHAT,SLC18A3 | c.703C>G (p.Leu235Val) c.-69+2244C>G (n.-69+2244C>G) | gnomAD v4 |
| 10 | g.49611443C>T | CA376720356 | CHAT,SLC18A3 | c.703C>T (p.Leu235Phe) c.-69+2244C>T (n.-69+2244C>T) | |
| 10 | g.49611444T>A | CA376720358 | CHAT,SLC18A3 | c.704T>A (p.Leu235His) c.-69+2245T>A (n.-69+2245T>A) | ClinVar |
| 10 | g.49611444T>C | CA376720361 | CHAT,SLC18A3 | c.704T>C (p.Leu235Pro) c.-69+2245T>C (n.-69+2245T>C) | |
| 10 | g.49611444T>G | CA376720364 | CHAT,SLC18A3 | c.704T>G (p.Leu235Arg) c.-69+2245T>G (n.-69+2245T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611444T= | CA1908793771 | CHAT,SLC18A3 | c.704T= (p.Leu235=) c.-69+2245T= (n.-69+2245T=) | |
| 10 | g.49611445C>A | CA469791745 | CHAT,SLC18A3 | c.705C>A (p.Leu235=) c.-69+2246C>A (n.-69+2246C>A) | gnomAD v4 |
| 10 | g.49611445C= | CA1908793779 | CHAT,SLC18A3 | c.705C= (p.Leu235=) c.-69+2246C= (n.-69+2246C=) | |
| 10 | g.49611445C>G | CA469791744 | CHAT,SLC18A3 | c.705C>G (p.Leu235=) c.-69+2246C>G (n.-69+2246C>G) | gnomAD v4 |
| 10 | g.49611445C>T | CA469791746 | CHAT,SLC18A3 | c.705C>T (p.Leu235=) c.-69+2246C>T (n.-69+2246C>T) | dbSNP gnomAD v2 |
| 10 | g.49611446T>A | CA376720370 | CHAT,SLC18A3 | c.706T>A (p.Tyr236Asn) c.-69+2247T>A (n.-69+2247T>A) | |
| 10 | g.49611446T>C | CA376720376 | CHAT,SLC18A3 | c.706T>C (p.Tyr236His) c.-69+2247T>C (n.-69+2247T>C) | gnomAD v4 |
| 10 | g.49611446T>G | CA376720374 | CHAT,SLC18A3 | c.706T>G (p.Tyr236Asp) c.-69+2247T>G (n.-69+2247T>G) | |
| 10 | g.49611447_49611448del | CA2609115992 | CHAT,SLC18A3 | c.707_708del (p.Tyr236Ter) c.-69+2248_-69+2249del (n.-69+2248_-69+2249del) | gnomAD v4 |
| 10 | g.49611447A= | CA1908793802 | CHAT,SLC18A3 | c.707A= (p.Tyr236=) c.-69+2248A= (n.-69+2248A=) | |
| 10 | g.49611447A>C | CA376720383 | CHAT,SLC18A3 | c.707A>C (p.Tyr236Ser) c.-69+2248A>C (n.-69+2248A>C) | |
| 10 | g.49611447A>G | CA376720385 | CHAT,SLC18A3 | c.707A>G (p.Tyr236Cys) c.-69+2248A>G (n.-69+2248A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611447A>T | CA376720387 | CHAT,SLC18A3 | c.707A>T (p.Tyr236Phe) c.-69+2248A>T (n.-69+2248A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611448T>A | CA376720391 | CHAT,SLC18A3 | c.708T>A (p.Tyr236Ter) c.-69+2249T>A (n.-69+2249T>A) | |
| 10 | g.49611448T>C | CA469791753 | CHAT,SLC18A3 | c.708T>C (p.Tyr236=) c.-69+2249T>C (n.-69+2249T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611448T>G | CA376720393 | CHAT,SLC18A3 | c.708T>G (p.Tyr236Ter) c.-69+2249T>G (n.-69+2249T>G) | dbSNP gnomAD v4 |
| 10 | g.49611448T= | CA1908793807 | CHAT,SLC18A3 | c.708T= (p.Tyr236=) c.-69+2249T= (n.-69+2249T=) | |
| 10 | g.49611449G>A | CA376720398 | CHAT,SLC18A3 | c.709G>A (p.Glu237Lys) c.-69+2250G>A (n.-69+2250G>A) | |
| 10 | g.49611449G>C | CA376720400 | CHAT,SLC18A3 | c.709G>C (p.Glu237Gln) c.-69+2250G>C (n.-69+2250G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611449G= | CA1908793814 | CHAT,SLC18A3 | c.709G= (p.Glu237=) c.-69+2250G= (n.-69+2250G=) | |
| 10 | g.49611449G>T | CA376720404 | CHAT,SLC18A3 | c.709G>T (p.Glu237Ter) c.-69+2250G>T (n.-69+2250G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611450A>C | CA376720410 | CHAT,SLC18A3 | c.710A>C (p.Glu237Ala) c.-69+2251A>C (n.-69+2251A>C) | |
| 10 | g.49611450A>G | CA376720412 | CHAT,SLC18A3 | c.710A>G (p.Glu237Gly) c.-69+2251A>G (n.-69+2251A>G) | |
| 10 | g.49611450A>T | CA376720416 | CHAT,SLC18A3 | c.710A>T (p.Glu237Val) c.-69+2251A>T (n.-69+2251A>T) | |
| 10 | g.49611451G>A | CA469791760 | CHAT,SLC18A3 | c.711G>A (p.Glu237=) c.-69+2252G>A (n.-69+2252G>A) | |
| 10 | g.49611451G>C | CA376720421 | CHAT,SLC18A3 | c.711G>C (p.Glu237Asp) c.-69+2252G>C (n.-69+2252G>C) | |
| 10 | g.49611451G= | CA1908793823 | CHAT,SLC18A3 | c.711G= (p.Glu237=) c.-69+2252G= (n.-69+2252G=) | |
| 10 | g.49611451G>T | CA376720424 | CHAT,SLC18A3 | c.711G>T (p.Glu237Asp) c.-69+2252G>T (n.-69+2252G>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.49611452T>A | CA376720437 | CHAT,SLC18A3 | c.712T>A (p.Phe238Ile) c.-69+2253T>A (n.-69+2253T>A) | |
| 10 | g.49611452T>C | CA376720430 | CHAT,SLC18A3 | c.712T>C (p.Phe238Leu) c.-69+2253T>C (n.-69+2253T>C) | |
| 10 | g.49611452T>G | CA376720434 | CHAT,SLC18A3 | c.712T>G (p.Phe238Val) c.-69+2253T>G (n.-69+2253T>G) | |
| 10 | g.49611453T>A | CA376720442 | CHAT,SLC18A3 | c.713T>A (p.Phe238Tyr) c.-69+2254T>A (n.-69+2254T>A) | |
| 10 | g.49611453T>C | CA376720443 | CHAT,SLC18A3 | c.713T>C (p.Phe238Ser) c.-69+2254T>C (n.-69+2254T>C) | |
| 10 | g.49611453T>G | CA376720446 | CHAT,SLC18A3 | c.713T>G (p.Phe238Cys) c.-69+2254T>G (n.-69+2254T>G) | |
| 10 | g.49611454C>A | CA5496825 | CHAT,SLC18A3 | c.714C>A (p.Phe238Leu) c.-69+2255C>A (n.-69+2255C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611454C= | CA1908793826 | CHAT,SLC18A3 | c.714C= (p.Phe238=) c.-69+2255C= (n.-69+2255C=) | |
| 10 | g.49611454C>G | CA376720451 | CHAT,SLC18A3 | c.714C>G (p.Phe238Leu) c.-69+2255C>G (n.-69+2255C>G) | |
| 10 | g.49611454C>T | CA469791771 | CHAT,SLC18A3 | c.714C>T (p.Phe238=) c.-69+2255C>T (n.-69+2255C>T) | dbSNP gnomAD v4 |
| 10 | g.49611455G>A | CA376720454 | CHAT,SLC18A3 | c.715G>A (p.Ala239Thr) c.-69+2256G>A (n.-69+2256G>A) | gnomAD v4 |
| 10 | g.49611455G>C | CA376720456 | CHAT,SLC18A3 | c.715G>C (p.Ala239Pro) c.-69+2256G>C (n.-69+2256G>C) | |
| 10 | g.49611455G= | CA1908793828 | CHAT,SLC18A3 | c.715G= (p.Ala239=) c.-69+2256G= (n.-69+2256G=) | |
| 10 | g.49611455G>T | CA5496826 | CHAT,SLC18A3 | c.715G>T (p.Ala239Ser) c.-69+2256G>T (n.-69+2256G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611456C>A | CA376720459 | CHAT,SLC18A3 | c.716C>A (p.Ala239Asp) c.-69+2257C>A (n.-69+2257C>A) | gnomAD v4 |
| 10 | g.49611456C>G | CA376720461 | CHAT,SLC18A3 | c.716C>G (p.Ala239Gly) c.-69+2257C>G (n.-69+2257C>G) | gnomAD v4 |
| 10 | g.49611456C>T | CA376720463 | CHAT,SLC18A3 | c.716C>T (p.Ala239Val) c.-69+2257C>T (n.-69+2257C>T) | gnomAD v4 |
| 10 | g.49611457C>A | CA469791778 | CHAT,SLC18A3 | c.717C>A (p.Ala239=) c.-69+2258C>A (n.-69+2258C>A) | |
| 10 | g.49611457C= | CA1908793831 | CHAT,SLC18A3 | c.717C= (p.Ala239=) c.-69+2258C= (n.-69+2258C=) | |
| 10 | g.49611457C>G | CA469791779 | CHAT,SLC18A3 | c.717C>G (p.Ala239=) c.-69+2258C>G (n.-69+2258C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611457C>T | CA5496827 | CHAT,SLC18A3 | c.717C>T (p.Ala239=) c.-69+2258C>T (n.-69+2258C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611458G>A | CA206621165 | CHAT,SLC18A3 | c.718G>A (p.Gly240Ser) c.-69+2259G>A (n.-69+2259G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611458G>C | CA376720468 | CHAT,SLC18A3 | c.718G>C (p.Gly240Arg) c.-69+2259G>C (n.-69+2259G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611458G= | CA1908793839 | CHAT,SLC18A3 | c.718G= (p.Gly240=) c.-69+2259G= (n.-69+2259G=) | |
| 10 | g.49611458G>T | CA376720466 | CHAT,SLC18A3 | c.718G>T (p.Gly240Cys) c.-69+2259G>T (n.-69+2259G>T) | |
| 10 | g.49611459G>A | CA376720472 | CHAT,SLC18A3 | c.719G>A (p.Gly240Asp) c.-69+2260G>A (n.-69+2260G>A) | gnomAD v4 |
| 10 | g.49611459G>C | CA376720476 | CHAT,SLC18A3 | c.719G>C (p.Gly240Ala) c.-69+2260G>C (n.-69+2260G>C) | |
| 10 | g.49611459G= | CA1908793842 | CHAT,SLC18A3 | c.719G= (p.Gly240=) c.-69+2260G= (n.-69+2260G=) | |
| 10 | g.49611459G>T | CA5496828 | CHAT,SLC18A3 | c.719G>T (p.Gly240Val) c.-69+2260G>T (n.-69+2260G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611460C>A | CA469791789 | CHAT,SLC18A3 | c.720C>A (p.Gly240=) c.-69+2261C>A (n.-69+2261C>A) | gnomAD v4 |
| 10 | g.49611460C>G | CA469791787 | CHAT,SLC18A3 | c.720C>G (p.Gly240=) c.-69+2261C>G (n.-69+2261C>G) | |
| 10 | g.49611460C>T | CA469791786 | CHAT,SLC18A3 | c.720C>T (p.Gly240=) c.-69+2261C>T (n.-69+2261C>T) | |
| 10 | g.49611461A= | CA1908793844 | CHAT,SLC18A3 | c.721A= (p.Lys241=) c.-69+2262A= (n.-69+2262A=) | |
| 10 | g.49611461A>C | CA376720478 | CHAT,SLC18A3 | c.721A>C (p.Lys241Gln) c.-69+2262A>C (n.-69+2262A>C) | |
| 10 | g.49611461A>G | CA376720484 | CHAT,SLC18A3 | c.721A>G (p.Lys241Glu) c.-69+2262A>G (n.-69+2262A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611461A>T | CA376720481 | CHAT,SLC18A3 | c.721A>T (p.Lys241Ter) c.-69+2262A>T (n.-69+2262A>T) | |
| 10 | g.49611462A>C | CA376720487 | CHAT,SLC18A3 | c.722A>C (p.Lys241Thr) c.-69+2263A>C (n.-69+2263A>C) | |
| 10 | g.49611462A>G | CA376720488 | CHAT,SLC18A3 | c.722A>G (p.Lys241Arg) c.-69+2263A>G (n.-69+2263A>G) | |
| 10 | g.49611462A>T | CA376720490 | CHAT,SLC18A3 | c.722A>T (p.Lys241Met) c.-69+2263A>T (n.-69+2263A>T) | |
| 10 | g.49611463G>A | CA469791796 | CHAT,SLC18A3 | c.723G>A (p.Lys241=) c.-69+2264G>A (n.-69+2264G>A) | gnomAD v4 |
| 10 | g.49611463G>C | CA376720492 | CHAT,SLC18A3 | c.723G>C (p.Lys241Asn) c.-69+2264G>C (n.-69+2264G>C) | |
| 10 | g.49611463G= | CA1908793852 | CHAT,SLC18A3 | c.723G= (p.Lys241=) c.-69+2264G= (n.-69+2264G=) | |
| 10 | g.49611463G>T | CA206621169 | CHAT,SLC18A3 | c.723G>T (p.Lys241Asn) c.-69+2264G>T (n.-69+2264G>T) | dbSNP |
| 10 | g.49611464C>A | CA5496829 | CHAT,SLC18A3 | c.724C>A (p.Arg242Ser) c.-69+2265C>A (n.-69+2265C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611464C= | CA1908793858 | CHAT,SLC18A3 | c.724C= (p.Arg242=) c.-69+2265C= (n.-69+2265C=) | |
| 10 | g.49611464C>G | CA376720496 | CHAT,SLC18A3 | c.724C>G (p.Arg242Gly) c.-69+2265C>G (n.-69+2265C>G) | dbSNP gnomAD v4 |
| 10 | g.49611464C>T | CA376720498 | CHAT,SLC18A3 | c.724C>T (p.Arg242Cys) c.-69+2265C>T (n.-69+2265C>T) | gnomAD v4 |
| 10 | g.49611465G>A | CA376720501 | CHAT,SLC18A3 | c.725G>A (p.Arg242His) c.-69+2266G>A (n.-69+2266G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611465G>C | CA376720504 | CHAT,SLC18A3 | c.725G>C (p.Arg242Pro) c.-69+2266G>C (n.-69+2266G>C) | |
| 10 | g.49611465G= | CA1908793864 | CHAT,SLC18A3 | c.725G= (p.Arg242=) c.-69+2266G= (n.-69+2266G=) | |
| 10 | g.49611465G>T | CA376720506 | CHAT,SLC18A3 | c.725G>T (p.Arg242Leu) c.-69+2266G>T (n.-69+2266G>T) | |
| 10 | g.49611466C>A | CA469791809 | CHAT,SLC18A3 | c.726C>A (p.Arg242=) c.-69+2267C>A (n.-69+2267C>A) | |
| 10 | g.49611466C= | CA1908793868 | CHAT,SLC18A3 | c.726C= (p.Arg242=) c.-69+2267C= (n.-69+2267C=) | |
| 10 | g.49611466C>G | CA469791804 | CHAT,SLC18A3 | c.726C>G (p.Arg242=) c.-69+2267C>G (n.-69+2267C>G) | |
| 10 | g.49611466C>T | CA469791806 | CHAT,SLC18A3 | c.726C>T (p.Arg242=) c.-69+2267C>T (n.-69+2267C>T) | dbSNP gnomAD v4 COSMIC |
| 10 | g.49611467G>A | CA376720510 | CHAT,SLC18A3 | c.727G>A (p.Val243Met) c.-69+2268G>A (n.-69+2268G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611467G>C | CA376720508 | CHAT,SLC18A3 | c.727G>C (p.Val243Leu) c.-69+2268G>C (n.-69+2268G>C) | |
| 10 | g.49611467G= | CA1908793875 | CHAT,SLC18A3 | c.727G= (p.Val243=) c.-69+2268G= (n.-69+2268G=) | |
| 10 | g.49611467G>T | CA5496830 | CHAT,SLC18A3 | c.727G>T (p.Val243Leu) c.-69+2268G>T (n.-69+2268G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611471_49611482del | CA2609116067 | CHAT,SLC18A3 | c.731_742del (p.Pro244_Val247del) c.-69+2272_-69+2283del (n.-69+2272_-69+2283del) | gnomAD v4 |
| 10 | g.49611468T>A | CA376720513 | CHAT,SLC18A3 | c.728T>A (p.Val243Glu) c.-69+2269T>A (n.-69+2269T>A) | |
| 10 | g.49611468T>C | CA376720515 | CHAT,SLC18A3 | c.728T>C (p.Val243Ala) c.-69+2269T>C (n.-69+2269T>C) | |
| 10 | g.49611468T>G | CA376720518 | CHAT,SLC18A3 | c.728T>G (p.Val243Gly) c.-69+2269T>G (n.-69+2269T>G) | gnomAD v4 |
| 10 | g.49611469G>A | CA206621175 | CHAT,SLC18A3 | c.729G>A (p.Val243=) c.-69+2270G>A (n.-69+2270G>A) | dbSNP gnomAD v4 |
| 10 | g.49611469G>C | CA469791814 | CHAT,SLC18A3 | c.729G>C (p.Val243=) c.-69+2270G>C (n.-69+2270G>C) | |
| 10 | g.49611469G= | CA1908793885 | CHAT,SLC18A3 | c.729G= (p.Val243=) c.-69+2270G= (n.-69+2270G=) | |
| 10 | g.49611469G>T | CA469791816 | CHAT,SLC18A3 | c.729G>T (p.Val243=) c.-69+2270G>T (n.-69+2270G>T) | |
| 10 | g.49611470C>A | CA376720520 | CHAT,SLC18A3 | c.730C>A (p.Pro244Thr) c.-69+2271C>A (n.-69+2271C>A) | gnomAD v4 |
| 10 | g.49611470C>G | CA376720522 | CHAT,SLC18A3 | c.730C>G (p.Pro244Ala) c.-69+2271C>G (n.-69+2271C>G) | |
| 10 | g.49611470C>T | CA376720525 | CHAT,SLC18A3 | c.730C>T (p.Pro244Ser) c.-69+2271C>T (n.-69+2271C>T) | gnomAD v4 |
| 10 | g.49611471C>A | CA376720527 | CHAT,SLC18A3 | c.731C>A (p.Pro244His) c.-69+2272C>A (n.-69+2272C>A) | |
| 10 | g.49611471C>G | CA376720528 | CHAT,SLC18A3 | c.731C>G (p.Pro244Arg) c.-69+2272C>G (n.-69+2272C>G) | |
| 10 | g.49611471C>T | CA376720530 | CHAT,SLC18A3 | c.731C>T (p.Pro244Leu) c.-69+2272C>T (n.-69+2272C>T) | |
| 10 | g.49611472C>A | CA469791822 | CHAT,SLC18A3 | c.732C>A (p.Pro244=) c.-69+2273C>A (n.-69+2273C>A) | COSMIC |
| 10 | g.49611472C>G | CA469791824 | CHAT,SLC18A3 | c.732C>G (p.Pro244=) c.-69+2273C>G (n.-69+2273C>G) | gnomAD v4 |
| 10 | g.49611472C>T | CA469791823 | CHAT,SLC18A3 | c.732C>T (p.Pro244=) c.-69+2273C>T (n.-69+2273C>T) | gnomAD v4 |
| 10 | g.49611473T>A | CA376720535 | CHAT,SLC18A3 | c.733T>A (p.Phe245Ile) c.-69+2274T>A (n.-69+2274T>A) | |
| 10 | g.49611473T>C | CA5496831 | CHAT,SLC18A3 | c.733T>C (p.Phe245Leu) c.-69+2274T>C (n.-69+2274T>C) | dbSNP ExAC gnomAD v2 |
| 10 | g.49611473T>G | CA376720533 | CHAT,SLC18A3 | c.733T>G (p.Phe245Val) c.-69+2274T>G (n.-69+2274T>G) | |
| 10 | g.49611473T= | CA1908793890 | CHAT,SLC18A3 | c.733T= (p.Phe245=) c.-69+2274T= (n.-69+2274T=) | |
| 10 | g.49611474T>A | CA376720537 | CHAT,SLC18A3 | c.734T>A (p.Phe245Tyr) c.-69+2275T>A (n.-69+2275T>A) | |
| 10 | g.49611474T>C | CA376720539 | CHAT,SLC18A3 | c.734T>C (p.Phe245Ser) c.-69+2275T>C (n.-69+2275T>C) | |
| 10 | g.49611474T>G | CA376720541 | CHAT,SLC18A3 | c.734T>G (p.Phe245Cys) c.-69+2275T>G (n.-69+2275T>G) |