Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.49611839A>C | CA376722041 | CHAT,SLC18A3 | c.1099A>C (p.Ile367Leu) c.-69+2640A>C (n.-69+2640A>C) | |
10 | g.49611839A>G | CA376722042 | CHAT,SLC18A3 | c.1099A>G (p.Ile367Val) c.-69+2640A>G (n.-69+2640A>G) | |
10 | g.49611839A>T | CA376722043 | CHAT,SLC18A3 | c.1099A>T (p.Ile367Phe) c.-69+2640A>T (n.-69+2640A>T) | |
10 | g.49611840T>A | CA376722044 | CHAT,SLC18A3 | c.1100T>A (p.Ile367Asn) c.-69+2641T>A (n.-69+2641T>A) | |
10 | g.49611840T>C | CA376722045 | CHAT,SLC18A3 | c.1100T>C (p.Ile367Thr) c.-69+2641T>C (n.-69+2641T>C) | dbSNP gnomAD v4 |
10 | g.49611840T>G | CA376722046 | CHAT,SLC18A3 | c.1100T>G (p.Ile367Ser) c.-69+2641T>G (n.-69+2641T>G) | |
10 | g.49611841C>A | CA469791442 | CHAT,SLC18A3 | c.1101C>A (p.Ile367=) c.-69+2642C>A (n.-69+2642C>A) | |
10 | g.49611841C>G | CA376722047 | CHAT,SLC18A3 | c.1101C>G (p.Ile367Met) c.-69+2642C>G (n.-69+2642C>G) | |
10 | g.49611841C>T | CA469791443 | CHAT,SLC18A3 | c.1101C>T (p.Ile367=) c.-69+2642C>T (n.-69+2642C>T) | ClinVar dbSNP gnomAD v4 |
10 | g.49611842G>A | CA376722048 | CHAT,SLC18A3 | c.1102G>A (p.Gly368Ser) c.-69+2643G>A (n.-69+2643G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611842G>C | CA376722049 | CHAT,SLC18A3 | c.1102G>C (p.Gly368Arg) c.-69+2643G>C (n.-69+2643G>C) | gnomAD v4 |
10 | g.49611842G= | CA1908794840 | CHAT,SLC18A3 | c.1102G= (p.Gly368=) c.-69+2643G= (n.-69+2643G=) | |
10 | g.49611842G>T | CA376722050 | CHAT,SLC18A3 | c.1102G>T (p.Gly368Cys) c.-69+2643G>T (n.-69+2643G>T) | gnomAD v4 |
10 | g.49611843G>A | CA376722053 | CHAT,SLC18A3 | c.1103G>A (p.Gly368Asp) c.-69+2644G>A (n.-69+2644G>A) | |
10 | g.49611843G>C | CA376722051 | CHAT,SLC18A3 | c.1103G>C (p.Gly368Ala) c.-69+2644G>C (n.-69+2644G>C) | |
10 | g.49611843G>T | CA376722052 | CHAT,SLC18A3 | c.1103G>T (p.Gly368Val) c.-69+2644G>T (n.-69+2644G>T) | gnomAD v4 |
10 | g.49611843_49611844insGGCTGGCTGTGAT | CA2609117158 | CHAT,SLC18A3 | c.1103_1104insGGCTGGCTGTGAT (p.Ser370GlyfsTer?) c.-69+2644_-69+2645insGGCTGGCTGTGAT (n.-69+2644_-69+2645insGGCTGGCTGTGAT) | gnomAD v4 |
10 | g.49611844C>A | CA469791446 | CHAT,SLC18A3 | c.1104C>A (p.Gly368=) c.-69+2645C>A (n.-69+2645C>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611844C= | CA1908794843 | CHAT,SLC18A3 | c.1104C= (p.Gly368=) c.-69+2645C= (n.-69+2645C=) | |
10 | g.49611844C>G | CA469791448 | CHAT,SLC18A3 | c.1104C>G (p.Gly368=) c.-69+2645C>G (n.-69+2645C>G) | |
10 | g.49611844C>T | CA469791444 | CHAT,SLC18A3 | c.1104C>T (p.Gly368=) c.-69+2645C>T (n.-69+2645C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.49611845G>A | CA376722054 | CHAT,SLC18A3 | c.1105G>A (p.Ala369Thr) c.-69+2646G>A (n.-69+2646G>A) | gnomAD v4 |
10 | g.49611845G>C | CA376722055 | CHAT,SLC18A3 | c.1105G>C (p.Ala369Pro) c.-69+2646G>C (n.-69+2646G>C) | |
10 | g.49611845G>T | CA376722056 | CHAT,SLC18A3 | c.1105G>T (p.Ala369Ser) c.-69+2646G>T (n.-69+2646G>T) | gnomAD v4 |
10 | g.49611845_49611846insGCC | CA2609117183 | CHAT,SLC18A3 | c.1105_1106insGCC (p.Ala369delinsGlyPro) c.-69+2646_-69+2647insGCC (n.-69+2646_-69+2647insGCC) | gnomAD v4 |
10 | g.49611846C>A | CA376722057 | CHAT,SLC18A3 | c.1106C>A (p.Ala369Asp) c.-69+2647C>A (n.-69+2647C>A) | |
10 | g.49611846C>G | CA376722058 | CHAT,SLC18A3 | c.1106C>G (p.Ala369Gly) c.-69+2647C>G (n.-69+2647C>G) | |
10 | g.49611846C>T | CA376722059 | CHAT,SLC18A3 | c.1106C>T (p.Ala369Val) c.-69+2647C>T (n.-69+2647C>T) | |
10 | g.49611847C>A | CA469791449 | CHAT,SLC18A3 | c.1107C>A (p.Ala369=) c.-69+2648C>A (n.-69+2648C>A) | |
10 | g.49611847C= | CA1908794847 | CHAT,SLC18A3 | c.1107C= (p.Ala369=) c.-69+2648C= (n.-69+2648C=) | |
10 | g.49611847C>G | CA469791454 | CHAT,SLC18A3 | c.1107C>G (p.Ala369=) c.-69+2648C>G (n.-69+2648C>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611847C>T | CA469791452 | CHAT,SLC18A3 | c.1107C>T (p.Ala369=) c.-69+2648C>T (n.-69+2648C>T) | |
10 | g.49611848A= | CA1908794854 | CHAT,SLC18A3 | c.1108A= (p.Ser370=) c.-69+2649A= (n.-69+2649A=) | |
10 | g.49611848A>C | CA376722060 | CHAT,SLC18A3 | c.1108A>C (p.Ser370Arg) c.-69+2649A>C (n.-69+2649A>C) | |
10 | g.49611848A>G | CA376722061 | CHAT,SLC18A3 | c.1108A>G (p.Ser370Gly) c.-69+2649A>G (n.-69+2649A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611848A>T | CA376722062 | CHAT,SLC18A3 | c.1108A>T (p.Ser370Cys) c.-69+2649A>T (n.-69+2649A>T) | |
10 | g.49611849G>A | CA5496902 | CHAT,SLC18A3 | c.1109G>A (p.Ser370Asn) c.-69+2650G>A (n.-69+2650G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611849G>C | CA376722063 | CHAT,SLC18A3 | c.1109G>C (p.Ser370Thr) c.-69+2650G>C (n.-69+2650G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611849G= | CA1908794861 | CHAT,SLC18A3 | c.1109G= (p.Ser370=) c.-69+2650G= (n.-69+2650G=) | |
10 | g.49611849G>T | CA376722064 | CHAT,SLC18A3 | c.1109G>T (p.Ser370Ile) c.-69+2650G>T (n.-69+2650G>T) | ClinVar dbSNP gnomAD v4 |
10 | g.49611850C>A | CA376722066 | CHAT,SLC18A3 | c.1110C>A (p.Ser370Arg) c.-69+2651C>A (n.-69+2651C>A) | gnomAD v4 |
10 | g.49611850C>G | CA376722065 | CHAT,SLC18A3 | c.1110C>G (p.Ser370Arg) c.-69+2651C>G (n.-69+2651C>G) | gnomAD v4 |
10 | g.49611850C>T | CA469791459 | CHAT,SLC18A3 | c.1110C>T (p.Ser370=) c.-69+2651C>T (n.-69+2651C>T) | gnomAD v4 |
10 | g.49611851T>A | CA376722067 | CHAT,SLC18A3 | c.1111T>A (p.Ser371Thr) c.-69+2652T>A (n.-69+2652T>A) | |
10 | g.49611851T>C | CA376722069 | CHAT,SLC18A3 | c.1111T>C (p.Ser371Pro) c.-69+2652T>C (n.-69+2652T>C) | |
10 | g.49611851T>G | CA376722068 | CHAT,SLC18A3 | c.1111T>G (p.Ser371Ala) c.-69+2652T>G (n.-69+2652T>G) | gnomAD v4 |
10 | g.49611852C>A | CA376722070 | CHAT,SLC18A3 | c.1112C>A (p.Ser371Ter) c.-69+2653C>A (n.-69+2653C>A) | gnomAD v4 |
10 | g.49611852C>G | CA376722072 | CHAT,SLC18A3 | c.1112C>G (p.Ser371Trp) c.-69+2653C>G (n.-69+2653C>G) | gnomAD v4 |
10 | g.49611852C>T | CA376722071 | CHAT,SLC18A3 | c.1112C>T (p.Ser371Leu) c.-69+2653C>T (n.-69+2653C>T) | |
10 | g.49611853G>A | CA469791470 | CHAT,SLC18A3 | c.1113G>A (p.Ser371=) c.-69+2654G>A (n.-69+2654G>A) |