| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49611832G>A | CA469791417 | CHAT,SLC18A3 | c.1092G>A (p.Leu364=) c.-69+2633G>A (n.-69+2633G>A) | |
| 10 | g.49611832G>C | CA5496901 | CHAT,SLC18A3 | c.1092G>C (p.Leu364=) c.-69+2633G>C (n.-69+2633G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611832G= | CA1908794831 | CHAT,SLC18A3 | c.1092G= (p.Leu364=) c.-69+2633G= (n.-69+2633G=) | |
| 10 | g.49611832G>T | CA469791419 | CHAT,SLC18A3 | c.1092G>T (p.Leu364=) c.-69+2633G>T (n.-69+2633G>T) | dbSNP gnomAD v4 |
| 10 | g.49611833G>A | CA376722029 | CHAT,SLC18A3 | c.1093G>A (p.Ala365Thr) c.-69+2634G>A (n.-69+2634G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611833G>C | CA376722030 | CHAT,SLC18A3 | c.1093G>C (p.Ala365Pro) c.-69+2634G>C (n.-69+2634G>C) | ClinVar dbSNP |
| 10 | g.49611833G= | CA1908794834 | CHAT,SLC18A3 | c.1093G= (p.Ala365=) c.-69+2634G= (n.-69+2634G=) | |
| 10 | g.49611833G>T | CA376722031 | CHAT,SLC18A3 | c.1093G>T (p.Ala365Ser) c.-69+2634G>T (n.-69+2634G>T) | gnomAD v4 |
| 10 | g.49611834C>A | CA376722032 | CHAT,SLC18A3 | c.1094C>A (p.Ala365Asp) c.-69+2635C>A (n.-69+2635C>A) | |
| 10 | g.49611834C= | CA1908794838 | CHAT,SLC18A3 | c.1094C= (p.Ala365=) c.-69+2635C= (n.-69+2635C=) | |
| 10 | g.49611834C>G | CA376722033 | CHAT,SLC18A3 | c.1094C>G (p.Ala365Gly) c.-69+2635C>G (n.-69+2635C>G) | |
| 10 | g.49611834C>T | CA376722034 | CHAT,SLC18A3 | c.1094C>T (p.Ala365Val) c.-69+2635C>T (n.-69+2635C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611835T>A | CA469791429 | CHAT,SLC18A3 | c.1095T>A (p.Ala365=) c.-69+2636T>A (n.-69+2636T>A) | |
| 10 | g.49611835T>C | CA469791426 | CHAT,SLC18A3 | c.1095T>C (p.Ala365=) c.-69+2636T>C (n.-69+2636T>C) | |
| 10 | g.49611835T>G | CA469791427 | CHAT,SLC18A3 | c.1095T>G (p.Ala365=) c.-69+2636T>G (n.-69+2636T>G) | COSMIC |
| 10 | g.49611836G>A | CA376722035 | CHAT,SLC18A3 | c.1096G>A (p.Val366Met) c.-69+2637G>A (n.-69+2637G>A) | |
| 10 | g.49611836G>C | CA376722037 | CHAT,SLC18A3 | c.1096G>C (p.Val366Leu) c.-69+2637G>C (n.-69+2637G>C) | |
| 10 | g.49611836G>T | CA376722036 | CHAT,SLC18A3 | c.1096G>T (p.Val366Leu) c.-69+2637G>T (n.-69+2637G>T) | gnomAD v4 |
| 10 | g.49611837T>A | CA376722038 | CHAT,SLC18A3 | c.1097T>A (p.Val366Glu) c.-69+2638T>A (n.-69+2638T>A) | |
| 10 | g.49611837T>C | CA376722039 | CHAT,SLC18A3 | c.1097T>C (p.Val366Ala) c.-69+2638T>C (n.-69+2638T>C) | |
| 10 | g.49611837T>G | CA376722040 | CHAT,SLC18A3 | c.1097T>G (p.Val366Gly) c.-69+2638T>G (n.-69+2638T>G) | |
| 10 | g.49611838G>A | CA469791433 | CHAT,SLC18A3 | c.1098G>A (p.Val366=) c.-69+2639G>A (n.-69+2639G>A) | |
| 10 | g.49611838G>C | CA469791434 | CHAT,SLC18A3 | c.1098G>C (p.Val366=) c.-69+2639G>C (n.-69+2639G>C) | |
| 10 | g.49611838G>T | CA469791437 | CHAT,SLC18A3 | c.1098G>T (p.Val366=) c.-69+2639G>T (n.-69+2639G>T) | gnomAD v4 |
| 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) |