| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.50193226_50193233dup | CA1363836702 | GNAT1 | c.150-39_150-32dup (n.150-39_150-32dup) c.6-39_6-32dup (n.6-39_6-32dup) n.430-39_430-32dup | dbSNP |
| 3 | g.50193218T>C | CA542849061 | GNAT1 | c.149+43T>C (n.149+43T>C) c.5+43T>C (n.5+43T>C) n.429+43T>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193218T= | CA1363836703 | GNAT1 | c.149+43T= (n.149+43T=) c.5+43T= (n.5+43T=) n.429+43T= | |
| 3 | g.50193219T>A | CA542849066 | GNAT1 | c.149+44T>A (n.149+44T>A) c.5+44T>A (n.5+44T>A) n.429+44T>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193219T>C | CA2665814984 | GNAT1 | c.149+44T>C (n.149+44T>C) c.5+44T>C (n.5+44T>C) n.429+44T>C | gnomAD v4 |
| 3 | g.50193219T= | CA1363836704 | GNAT1 | c.149+44T= (n.149+44T=) c.5+44T= (n.5+44T=) n.429+44T= | |
| 3 | g.50193220C= | CA1363836705 | GNAT1 | c.150-45C= (n.150-45C=) c.6-45C= (n.6-45C=) n.430-45C= | |
| 3 | g.50193220C>T | CA1363836706 | GNAT1 | c.150-45C>T (n.150-45C>T) c.6-45C>T (n.6-45C>T) n.430-45C>T | dbSNP gnomAD v4 |
| 3 | g.50193223dup | CA2412467 | GNAT1 | c.150-42dup (n.150-42dup) c.6-42dup (n.6-42dup) n.430-42dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.50193221C>T | CA2577853767 | GNAT1 | c.150-44C>T (n.150-44C>T) c.6-44C>T (n.6-44C>T) n.430-44C>T | |
| 3 | g.50193222C= | CA1363836707 | GNAT1 | c.150-43C= (n.150-43C=) c.6-43C= (n.6-43C=) n.430-43C= | |
| 3 | g.50193222C>T | CA2412468 | GNAT1 | c.150-43C>T (n.150-43C>T) c.6-43C>T (n.6-43C>T) n.430-43C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193223C= | CA1363836708 | GNAT1 | c.150-42C= (n.150-42C=) c.6-42C= (n.6-42C=) n.430-42C= | |
| 3 | g.50193223C>T | CA2412469 | GNAT1 | c.150-42C>T (n.150-42C>T) c.6-42C>T (n.6-42C>T) n.430-42C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193224A= | CA1363836709 | GNAT1 | c.150-41A= (n.150-41A=) c.6-41A= (n.6-41A=) n.430-41A= | |
| 3 | g.50193224A>G | CA2412470 | GNAT1 | c.150-41A>G (n.150-41A>G) c.6-41A>G (n.6-41A>G) n.430-41A>G | dbSNP ExAC gnomAD v2 |
| 3 | g.50193225C= | CA1363836710 | GNAT1 | c.150-40C= (n.150-40C=) c.6-40C= (n.6-40C=) n.430-40C= | |
| 3 | g.50193225C>T | CA1363836711 | GNAT1 | c.150-40C>T (n.150-40C>T) c.6-40C>T (n.6-40C>T) n.430-40C>T | dbSNP |
| 3 | g.50193226T>C | CA2577853768 | GNAT1 | c.150-39T>C (n.150-39T>C) c.6-39T>C (n.6-39T>C) n.430-39T>C | |
| 3 | g.50193228C= | CA1363836712 | GNAT1 | c.150-37C= (n.150-37C=) c.6-37C= (n.6-37C=) n.430-37C= | |
| 3 | g.50193228C>G | CA2756206775 | GNAT1 | c.150-37C>G (n.150-37C>G) c.6-37C>G (n.6-37C>G) n.430-37C>G | |
| 3 | g.50193228C>T | CA542849079 | GNAT1 | c.150-37C>T (n.150-37C>T) c.6-37C>T (n.6-37C>T) n.430-37C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193230C= | CA1363836713 | GNAT1 | c.150-35C= (n.150-35C=) c.6-35C= (n.6-35C=) n.430-35C= | |
| 3 | g.50193230C>T | CA2412471 | GNAT1 | c.150-35C>T (n.150-35C>T) c.6-35C>T (n.6-35C>T) n.430-35C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.50193232A= | CA1363836714 | GNAT1 | c.150-33A= (n.150-33A=) c.6-33A= (n.6-33A=) n.430-33A= | |
| 3 | g.50193232A>C | CA1363836715 | GNAT1 | c.150-33A>C (n.150-33A>C) c.6-33A>C (n.6-33A>C) n.430-33A>C | dbSNP |
| 3 | g.50193232A>G | CA2665814999 | GNAT1 | c.150-33A>G (n.150-33A>G) c.6-33A>G (n.6-33A>G) n.430-33A>G | gnomAD v4 |
| 3 | g.50193233C>A | CA542849087 | GNAT1 | c.150-32C>A (n.150-32C>A) c.6-32C>A (n.6-32C>A) n.430-32C>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193233C= | CA1363836716 | GNAT1 | c.150-32C= (n.150-32C=) c.6-32C= (n.6-32C=) n.430-32C= | |
| 3 | g.50193233C>G | CA2665815002 | GNAT1 | c.150-32C>G (n.150-32C>G) c.6-32C>G (n.6-32C>G) n.430-32C>G | gnomAD v4 |
| 3 | g.50193233C>T | CA2412472 | GNAT1 | c.150-32C>T (n.150-32C>T) c.6-32C>T (n.6-32C>T) n.430-32C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.50193234G>A | CA2412473 | GNAT1 | c.150-31G>A (n.150-31G>A) c.6-31G>A (n.6-31G>A) n.430-31G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.50193234G= | CA1363836717 | GNAT1 | c.150-31G= (n.150-31G=) c.6-31G= (n.6-31G=) n.430-31G= | |
| 3 | g.50193235A= | CA1363836718 | GNAT1 | c.150-30A= (n.150-30A=) c.6-30A= (n.6-30A=) n.430-30A= | |
| 3 | g.50193235A>G | CA2412474 | GNAT1 | c.150-30A>G (n.150-30A>G) c.6-30A>G (n.6-30A>G) n.430-30A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193236G>A | CA907936164 | GNAT1 | c.150-29G>A (n.150-29G>A) c.6-29G>A (n.6-29G>A) n.430-29G>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.50193236G= | CA1363836719 | GNAT1 | c.150-29G= (n.150-29G=) c.6-29G= (n.6-29G=) n.430-29G= | |
| 3 | g.50193237del | CA2665815006 | GNAT1 | c.150-28del (n.150-28del) c.6-28del (n.6-28del) n.430-28del | gnomAD v4 |
| 3 | g.50193237G>A | CA2665815010 | GNAT1 | c.150-28G>A (n.150-28G>A) c.6-28G>A (n.6-28G>A) n.430-28G>A | gnomAD v4 |
| 3 | g.50193237G>T | CA2577853769 | GNAT1 | c.150-28G>T (n.150-28G>T) c.6-28G>T (n.6-28G>T) n.430-28G>T | gnomAD v4 |
| 3 | g.50193238C>A | CA542849110 | GNAT1 | c.150-27C>A (n.150-27C>A) c.6-27C>A (n.6-27C>A) n.430-27C>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193238C= | CA1363836720 | GNAT1 | c.150-27C= (n.150-27C=) c.6-27C= (n.6-27C=) n.430-27C= | |
| 3 | g.50193238C>T | CA74601041 | GNAT1 | c.150-27C>T (n.150-27C>T) c.6-27C>T (n.6-27C>T) n.430-27C>T | dbSNP gnomAD v4 |
| 3 | g.50193239G>A | CA907936169 | GNAT1 | c.150-26G>A (n.150-26G>A) c.6-26G>A (n.6-26G>A) n.430-26G>A | dbSNP |
| 3 | g.50193239G= | CA1363836721 | GNAT1 | c.150-26G= (n.150-26G=) c.6-26G= (n.6-26G=) n.430-26G= | |
| 3 | g.50193239_50193240insTTTTTT | CA2597237012 | GNAT1 | c.150-26_150-25insTTTTTT (n.150-26_150-25insTTTTTT) c.6-26_6-25insTTTTTT (n.6-26_6-25insTTTTTT) n.430-26_430-25insTTTTTT | gnomAD v3 gnomAD v4 |
| 3 | g.50193240C>A | CA2665815012 | GNAT1 | c.150-25C>A (n.150-25C>A) c.6-25C>A (n.6-25C>A) n.430-25C>A | gnomAD v4 |
| 3 | g.50193240C>G | CA2756206776 | GNAT1 | c.150-25C>G (n.150-25C>G) c.6-25C>G (n.6-25C>G) n.430-25C>G | |
| 3 | g.50193241dup | CA2597237013 | GNAT1 | c.150-24dup (n.150-24dup) c.6-24dup (n.6-24dup) n.430-24dup | gnomAD v3 gnomAD v4 |
| 3 | g.50193245T>A | CA2597237014 | GNAT1 | c.150-20T>A (n.150-20T>A) c.6-20T>A (n.6-20T>A) n.430-20T>A | gnomAD v3 gnomAD v4 |
| 3 | g.50193247T>G | CA2597237015 | GNAT1 | c.150-18T>G (n.150-18T>G) c.6-18T>G (n.6-18T>G) n.430-18T>G | gnomAD v3 gnomAD v4 |
| 3 | g.50193248G>A | CA2412475 | GNAT1 | c.150-17G>A (n.150-17G>A) c.6-17G>A (n.6-17G>A) n.430-17G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193248G>C | CA74601046 | GNAT1 | c.150-17G>C (n.150-17G>C) c.6-17G>C (n.6-17G>C) n.430-17G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.50193248G= | CA1363836722 | GNAT1 | c.150-17G= (n.150-17G=) c.6-17G= (n.6-17G=) n.430-17G= | |
| 3 | g.50193249C>A | CA907936172 | GNAT1 | c.150-16C>A (n.150-16C>A) c.6-16C>A (n.6-16C>A) n.430-16C>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.50193249C= | CA1363836723 | GNAT1 | c.150-16C= (n.150-16C=) c.6-16C= (n.6-16C=) n.430-16C= | |
| 3 | g.50193250_50193256del | CA2597237016 | GNAT1 | c.150-15_150-9del (n.150-15_150-9del) c.6-15_6-9del (n.6-15_6-9del) n.430-15_430-9del | gnomAD v3 gnomAD v4 |
| 3 | g.50193252T>C | CA2665815046 | GNAT1 | c.150-13T>C (n.150-13T>C) c.6-13T>C (n.6-13T>C) n.430-13T>C | gnomAD v4 |
| 3 | g.50193254C= | CA1363836724 | GNAT1 | c.150-11C= (n.150-11C=) c.6-11C= (n.6-11C=) n.430-11C= | |
| 3 | g.50193254C>T | CA2412476 | GNAT1 | c.150-11C>T (n.150-11C>T) c.6-11C>T (n.6-11C>T) n.430-11C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193255T>G | CA2665815052 | GNAT1 | c.150-10T>G (n.150-10T>G) c.6-10T>G (n.6-10T>G) n.430-10T>G | gnomAD v4 |
| 3 | g.50193256C>A | CA2513183815 | GNAT1 | c.150-9C>A (n.150-9C>A) c.6-9C>A (n.6-9C>A) n.430-9C>A | gnomAD v4 |
| 3 | g.50193256C= | CA1363836725 | GNAT1 | c.150-9C= (n.150-9C=) c.6-9C= (n.6-9C=) n.430-9C= | |
| 3 | g.50193256C>T | CA74601052 | GNAT1 | c.150-9C>T (n.150-9C>T) c.6-9C>T (n.6-9C>T) n.430-9C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193257G>T | CA2665815055 | GNAT1 | c.150-8G>T (n.150-8G>T) c.6-8G>T (n.6-8G>T) n.430-8G>T | gnomAD v4 |
| 3 | g.50193258G>A | CA2597237017 | GNAT1 | c.150-7G>A (n.150-7G>A) c.6-7G>A (n.6-7G>A) n.430-7G>A | gnomAD v3 gnomAD v4 |
| 3 | g.50193260C>A | CA2577853770 | GNAT1 | c.150-5C>A (n.150-5C>A) c.6-5C>A (n.6-5C>A) n.430-5C>A | |
| 3 | g.50193260C= | CA1363836726 | GNAT1 | c.150-5C= (n.150-5C=) c.6-5C= (n.6-5C=) n.430-5C= | |
| 3 | g.50193260C>T | CA1047807845 | GNAT1 | c.150-5C>T (n.150-5C>T) c.6-5C>T (n.6-5C>T) n.430-5C>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.50193261T>A | CA2597237019 | GNAT1 | c.150-4T>A (n.150-4T>A) c.6-4T>A (n.6-4T>A) n.430-4T>A | gnomAD v3 gnomAD v4 |
| 3 | g.50193261T>C | CA2580070118 | GNAT1 | c.150-4T>C (n.150-4T>C) c.6-4T>C (n.6-4T>C) n.430-4T>C | ClinVar |
| 3 | g.50193262C>A | CA2665815062 | GNAT1 | c.150-3C>A (n.150-3C>A) c.6-3C>A (n.6-3C>A) n.430-3C>A | gnomAD v4 |
| 3 | g.50193262C= | CA1363836727 | GNAT1 | c.150-3C= (n.150-3C=) c.6-3C= (n.6-3C=) n.430-3C= | |
| 3 | g.50193262C>G | CA1363836728 | GNAT1 | c.150-3C>G (n.150-3C>G) c.6-3C>G (n.6-3C>G) n.430-3C>G | dbSNP gnomAD v4 |
| 3 | g.50193263A= | CA1363836729 | GNAT1 | c.150-2A= (n.150-2A=) c.6-2A= (n.6-2A=) n.430-2A= | |
| 3 | g.50193263A>C | CA352912359 | GNAT1 | c.150-2A>C (n.150-2A>C) c.6-2A>C (n.6-2A>C) n.430-2A>C | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.50193263A>G | CA352912365 | GNAT1 | c.150-2A>G (n.150-2A>G) c.6-2A>G (n.6-2A>G) n.430-2A>G | |
| 3 | g.50193263A>T | CA352912362 | GNAT1 | c.150-2A>T (n.150-2A>T) c.6-2A>T (n.6-2A>T) n.430-2A>T | |
| 3 | g.50193264G>A | CA352912371 | GNAT1 | c.150-1G>A (n.150-1G>A) c.6-1G>A (n.6-1G>A) n.430-1G>A | |
| 3 | g.50193264G>C | CA352912374 | GNAT1 | c.150-1G>C (n.150-1G>C) c.6-1G>C (n.6-1G>C) n.430-1G>C | |
| 3 | g.50193264G>T | CA352912378 | GNAT1 | c.150-1G>T (n.150-1G>T) c.6-1G>T (n.6-1G>T) n.430-1G>T | |
| 3 | g.50193264_50193265insA | CA2597237020 | GNAT1 | c.150-1_150insA (n.150-1_150insA) c.6-1_6insA (n.6-1_6insA) n.430-1_430insA | gnomAD v3 gnomAD v4 |
| 3 | g.50193265G>A | CA433682491 | GNAT1 | c.150G>A (p.Lys50=) c.6G>A (p.Lys2=) n.430G>A | gnomAD v4 |
| 3 | g.50193265G>C | CA352912382 | GNAT1 | c.150G>C (p.Lys50Asn) c.6G>C (p.Lys2Asn) n.430G>C | |
| 3 | g.50193265G>T | CA352912386 | GNAT1 | c.150G>T (p.Lys50Asn) c.6G>T (p.Lys2Asn) n.430G>T | |
| 3 | g.50193266A>C | CA352912400 | GNAT1 | c.151A>C (p.Ile51Leu) c.7A>C (p.Ile3Leu) n.431A>C | |
| 3 | g.50193266A>G | CA352912422 | GNAT1 | c.151A>G (p.Ile51Val) c.7A>G (p.Ile3Val) n.431A>G | |
| 3 | g.50193266A>T | CA352912429 | GNAT1 | c.151A>T (p.Ile51Phe) c.7A>T (p.Ile3Phe) n.431A>T | |
| 3 | g.50193267T>A | CA352912446 | GNAT1 | c.152T>A (p.Ile51Asn) c.8T>A (p.Ile3Asn) n.432T>A | |
| 3 | g.50193267T>C | CA352912454 | GNAT1 | c.152T>C (p.Ile51Thr) c.8T>C (p.Ile3Thr) n.432T>C | |
| 3 | g.50193267T>G | CA352912458 | GNAT1 | c.152T>G (p.Ile51Ser) c.8T>G (p.Ile3Ser) n.432T>G | |
| 3 | g.50193267_50193268insC | CA2597237021 | GNAT1 | c.152_153insC (p.Ile52TyrfsTer?) c.8_9insC (p.Ile4TyrfsTer?) n.432_433insC | gnomAD v3 gnomAD v4 |
| 3 | g.50193268T>A | CA433682513 | GNAT1 | c.153T>A (p.Ile51=) c.9T>A (p.Ile3=) n.433T>A | |
| 3 | g.50193268T>C | CA433682514 | GNAT1 | c.153T>C (p.Ile51=) c.9T>C (p.Ile3=) n.433T>C | dbSNP |
| 3 | g.50193268T>G | CA352912464 | GNAT1 | c.153T>G (p.Ile51Met) c.9T>G (p.Ile3Met) n.433T>G | |
| 3 | g.50193268T= | CA1363836730 | GNAT1 | c.153T= (p.Ile51=) c.9T= (p.Ile3=) n.433T= | |
| 3 | g.50193269A>C | CA352912471 | GNAT1 | c.154A>C (p.Ile52Leu) c.10A>C (p.Ile4Leu) n.434A>C | |
| 3 | g.50193269A>G | CA352912466 | GNAT1 | c.154A>G (p.Ile52Val) c.10A>G (p.Ile4Val) n.434A>G | |
| 3 | g.50193269A>T | CA352912469 | GNAT1 | c.154A>T (p.Ile52Phe) c.10A>T (p.Ile4Phe) n.434A>T | |
| 3 | g.50193270T>A | CA352912477 | GNAT1 | c.155T>A (p.Ile52Asn) c.11T>A (p.Ile4Asn) n.435T>A | |
| 3 | g.50193270T>C | CA352912481 | GNAT1 | c.155T>C (p.Ile52Thr) c.11T>C (p.Ile4Thr) n.435T>C | |
| 3 | g.50193270T>G | CA352912486 | GNAT1 | c.155T>G (p.Ile52Ser) c.11T>G (p.Ile4Ser) n.435T>G | |
| 3 | g.50193270_50193271del | CA2597237022 | GNAT1 | c.155_156del (p.Ile52ThrfsTer?) c.11_12del (p.Ile4ThrfsTer?) n.435_436del | gnomAD v3 gnomAD v4 |
| 3 | g.50193271C>A | CA433682527 | GNAT1 | c.156C>A (p.Ile52=) c.12C>A (p.Ile4=) n.436C>A | gnomAD v4 |
| 3 | g.50193271C>G | CA352912491 | GNAT1 | c.156C>G (p.Ile52Met) c.12C>G (p.Ile4Met) n.436C>G | |
| 3 | g.50193271C>T | CA433682529 | GNAT1 | c.156C>T (p.Ile52=) c.12C>T (p.Ile4=) n.436C>T | |
| 3 | g.50193272C>A | CA352912520 | GNAT1 | c.157C>A (p.His53Asn) c.13C>A (p.His5Asn) n.437C>A | |
| 3 | g.50193272C>G | CA352912510 | GNAT1 | c.157C>G (p.His53Asp) c.13C>G (p.His5Asp) n.437C>G | |
| 3 | g.50193272C>T | CA352912516 | GNAT1 | c.157C>T (p.His53Tyr) c.13C>T (p.His5Tyr) n.437C>T | |
| 3 | g.50193273A= | CA1363836731 | GNAT1 | c.158A= (p.His53=) c.14A= (p.His5=) n.438A= | |
| 3 | g.50193273A>C | CA352912523 | GNAT1 | c.158A>C (p.His53Pro) c.14A>C (p.His5Pro) n.438A>C | |
| 3 | g.50193273A>G | CA352912524 | GNAT1 | c.158A>G (p.His53Arg) c.14A>G (p.His5Arg) n.438A>G | dbSNP gnomAD v4 |
| 3 | g.50193273A>T | CA352912526 | GNAT1 | c.158A>T (p.His53Leu) c.14A>T (p.His5Leu) n.438A>T | |
| 3 | g.50193274C>A | CA352912542 | GNAT1 | c.159C>A (p.His53Gln) c.15C>A (p.His5Gln) n.439C>A | |
| 3 | g.50193274C>G | CA352912546 | GNAT1 | c.159C>G (p.His53Gln) c.15C>G (p.His5Gln) n.439C>G | |
| 3 | g.50193274C>T | CA433682552 | GNAT1 | c.159C>T (p.His53=) c.15C>T (p.His5=) n.439C>T | gnomAD v4 |
| 3 | g.50193275C>A | CA352912549 | GNAT1 | c.160C>A (p.Gln54Lys) c.16C>A (p.Gln6Lys) n.440C>A | |
| 3 | g.50193275C= | CA1363836732 | GNAT1 | c.160C= (p.Gln54=) c.16C= (p.Gln6=) n.440C= | |
| 3 | g.50193275C>G | CA352912562 | GNAT1 | c.160C>G (p.Gln54Glu) c.16C>G (p.Gln6Glu) n.440C>G | |
| 3 | g.50193275C>T | CA74601053 | GNAT1 | c.160C>T (p.Gln54Ter) c.16C>T (p.Gln6Ter) n.440C>T | dbSNP |
| 3 | g.50193276A>C | CA352912567 | GNAT1 | c.161A>C (p.Gln54Pro) c.17A>C (p.Gln6Pro) n.441A>C | |
| 3 | g.50193276A>G | CA352912576 | GNAT1 | c.161A>G (p.Gln54Arg) c.17A>G (p.Gln6Arg) n.441A>G | |
| 3 | g.50193276A>T | CA352912579 | GNAT1 | c.161A>T (p.Gln54Leu) c.17A>T (p.Gln6Leu) n.441A>T | |
| 3 | g.50193277G>A | CA433682567 | GNAT1 | c.162G>A (p.Gln54=) c.18G>A (p.Gln6=) n.442G>A | |
| 3 | g.50193277G>C | CA352912580 | GNAT1 | c.162G>C (p.Gln54His) c.18G>C (p.Gln6His) n.442G>C | |
| 3 | g.50193277G>T | CA352912581 | GNAT1 | c.162G>T (p.Gln54His) c.18G>T (p.Gln6His) n.442G>T | |
| 3 | g.50193278G>A | CA352912584 | GNAT1 | c.163G>A (p.Asp55Asn) c.19G>A (p.Asp7Asn) n.443G>A | gnomAD v4 |
| 3 | g.50193278G>C | CA352912586 | GNAT1 | c.163G>C (p.Asp55His) c.19G>C (p.Asp7His) n.443G>C | |
| 3 | g.50193278G= | CA1363836733 | GNAT1 | c.163G= (p.Asp55=) c.19G= (p.Asp7=) n.443G= | |
| 3 | g.50193278G>T | CA74601055 | GNAT1 | c.163G>T (p.Asp55Tyr) c.19G>T (p.Asp7Tyr) n.443G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193279A>C | CA352912592 | GNAT1 | c.164A>C (p.Asp55Ala) c.20A>C (p.Asp7Ala) n.444A>C | |
| 3 | g.50193279A>G | CA352912598 | GNAT1 | c.164A>G (p.Asp55Gly) c.20A>G (p.Asp7Gly) n.444A>G | |
| 3 | g.50193279A>T | CA352912600 | GNAT1 | c.164A>T (p.Asp55Val) c.20A>T (p.Asp7Val) n.444A>T | |
| 3 | g.50193280C>A | CA352912611 | GNAT1 | c.165C>A (p.Asp55Glu) c.21C>A (p.Asp7Glu) n.445C>A | |
| 3 | g.50193280C= | CA1363836734 | GNAT1 | c.165C= (p.Asp55=) c.21C= (p.Asp7=) n.445C= | |
| 3 | g.50193280C>G | CA352912605 | GNAT1 | c.165C>G (p.Asp55Glu) c.21C>G (p.Asp7Glu) n.445C>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.50193280C>T | CA2412477 | GNAT1 | c.165C>T (p.Asp55=) c.21C>T (p.Asp7=) n.445C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193281G>A | CA352912626 | GNAT1 | c.166G>A (p.Gly56Arg) c.22G>A (p.Gly8Arg) n.446G>A | |
| 3 | g.50193281G>C | CA352912619 | GNAT1 | c.166G>C (p.Gly56Arg) c.22G>C (p.Gly8Arg) n.446G>C | |
| 3 | g.50193281G>T | CA352912629 | GNAT1 | c.166G>T (p.Gly56Trp) c.22G>T (p.Gly8Trp) n.446G>T | |
| 3 | g.50193282G>A | CA352912635 | GNAT1 | c.167G>A (p.Gly56Glu) c.23G>A (p.Gly8Glu) n.447G>A | |
| 3 | g.50193282G>C | CA352912642 | GNAT1 | c.167G>C (p.Gly56Ala) c.23G>C (p.Gly8Ala) n.447G>C | |
| 3 | g.50193282G>T | CA352912638 | GNAT1 | c.167G>T (p.Gly56Val) c.23G>T (p.Gly8Val) n.447G>T | |
| 3 | g.50193283G>A | CA2412479 | GNAT1 | c.168G>A (p.Gly56=) c.24G>A (p.Gly8=) n.448G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.50193283G>C | CA2412478 | GNAT1 | c.168G>C (p.Gly56=) c.24G>C (p.Gly8=) n.448G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193283G= | CA1363836735 | GNAT1 | c.168G= (p.Gly56=) c.24G= (p.Gly8=) n.448G= | |
| 3 | g.50193283G>T | CA433682666 | GNAT1 | c.168G>T (p.Gly56=) c.24G>T (p.Gly8=) n.448G>T | |
| 3 | g.50193284T>A | CA352912660 | GNAT1 | c.169T>A (p.Tyr57Asn) c.25T>A (p.Tyr9Asn) n.449T>A | |
| 3 | g.50193284T>C | CA352912662 | GNAT1 | c.169T>C (p.Tyr57His) c.25T>C (p.Tyr9His) n.449T>C | |
| 3 | g.50193284T>G | CA352912675 | GNAT1 | c.169T>G (p.Tyr57Asp) c.25T>G (p.Tyr9Asp) n.449T>G | |
| 3 | g.50193285A>C | CA352912689 | GNAT1 | c.170A>C (p.Tyr57Ser) c.26A>C (p.Tyr9Ser) n.450A>C | |
| 3 | g.50193285A>G | CA352912690 | GNAT1 | c.170A>G (p.Tyr57Cys) c.26A>G (p.Tyr9Cys) n.450A>G | |
| 3 | g.50193285A>T | CA352912691 | GNAT1 | c.170A>T (p.Tyr57Phe) c.26A>T (p.Tyr9Phe) n.450A>T | |
| 3 | g.50193286C>A | CA352912692 | GNAT1 | c.171C>A (p.Tyr57Ter) c.27C>A (p.Tyr9Ter) n.451C>A | gnomAD v4 |
| 3 | g.50193286C= | CA1363836736 | GNAT1 | c.171C= (p.Tyr57=) c.27C= (p.Tyr9=) n.451C= | |
| 3 | g.50193286C>G | CA74601059 | GNAT1 | c.171C>G (p.Tyr57Ter) c.27C>G (p.Tyr9Ter) n.451C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193286C>T | CA433860393 | GNAT1 | c.171C>T (p.Tyr57=) c.27C>T (p.Tyr9=) n.451C>T | |
| 3 | g.50193287T>A | CA352912697 | GNAT1 | c.172T>A (p.Ser58Thr) c.28T>A (p.Ser10Thr) n.452T>A | gnomAD v4 |
| 3 | g.50193287T>C | CA352912702 | GNAT1 | c.172T>C (p.Ser58Pro) c.28T>C (p.Ser10Pro) n.452T>C | |
| 3 | g.50193287T>G | CA352912709 | GNAT1 | c.172T>G (p.Ser58Ala) c.28T>G (p.Ser10Ala) n.452T>G | |
| 3 | g.50193288C>A | CA352912715 | GNAT1 | c.173C>A (p.Ser58Ter) c.29C>A (p.Ser10Ter) n.453C>A | |
| 3 | g.50193288C>G | CA352912724 | GNAT1 | c.173C>G (p.Ser58Trp) c.29C>G (p.Ser10Trp) n.453C>G | |
| 3 | g.50193288C>T | CA352912722 | GNAT1 | c.173C>T (p.Ser58Leu) c.29C>T (p.Ser10Leu) n.453C>T | |
| 3 | g.50193289G>A | CA433860397 | GNAT1 | c.174G>A (p.Ser58=) c.30G>A (p.Ser10=) n.454G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193289G>C | CA2412480 | GNAT1 | c.174G>C (p.Ser58=) c.30G>C (p.Ser10=) n.454G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193289G= | CA1363836737 | GNAT1 | c.174G= (p.Ser58=) c.30G= (p.Ser10=) n.454G= | |
| 3 | g.50193289G>T | CA433860396 | GNAT1 | c.174G>T (p.Ser58=) c.30G>T (p.Ser10=) n.454G>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193290C>A | CA352912746 | GNAT1 | c.175C>A (p.Leu59Met) c.31C>A (p.Leu11Met) n.455C>A | |
| 3 | g.50193290C>G | CA352912748 | GNAT1 | c.175C>G (p.Leu59Val) c.31C>G (p.Leu11Val) n.455C>G | |
| 3 | g.50193290C>T | CA433860399 | GNAT1 | c.175C>T (p.Leu59=) c.31C>T (p.Leu11=) n.455C>T | |
| 3 | g.50193291T>A | CA352912753 | GNAT1 | c.176T>A (p.Leu59Gln) c.32T>A (p.Leu11Gln) n.456T>A | |
| 3 | g.50193291T>C | CA352912760 | GNAT1 | c.176T>C (p.Leu59Pro) c.32T>C (p.Leu11Pro) n.456T>C | ClinVar gnomAD v4 |
| 3 | g.50193291T>G | CA352912768 | GNAT1 | c.176T>G (p.Leu59Arg) c.32T>G (p.Leu11Arg) n.456T>G | |
| 3 | g.50193292G>A | CA433860406 | GNAT1 | c.177G>A (p.Leu59=) c.33G>A (p.Leu11=) n.457G>A | |
| 3 | g.50193292G>C | CA433860404 | GNAT1 | c.177G>C (p.Leu59=) c.33G>C (p.Leu11=) n.457G>C | |
| 3 | g.50193292G>T | CA433860401 | GNAT1 | c.177G>T (p.Leu59=) c.33G>T (p.Leu11=) n.457G>T | |
| 3 | g.50193293G>A | CA352912778 | GNAT1 | c.178G>A (p.Glu60Lys) c.34G>A (p.Glu12Lys) n.458G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193293G>C | CA352912785 | GNAT1 | c.178G>C (p.Glu60Gln) c.34G>C (p.Glu12Gln) n.458G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193293G= | CA1363836738 | GNAT1 | c.178G= (p.Glu60=) c.34G= (p.Glu12=) n.458G= | |
| 3 | g.50193293G>T | CA352912787 | GNAT1 | c.178G>T (p.Glu60Ter) c.34G>T (p.Glu12Ter) n.458G>T | |
| 3 | g.50193294A>C | CA352912803 | GNAT1 | c.179A>C (p.Glu60Ala) c.35A>C (p.Glu12Ala) n.459A>C | |
| 3 | g.50193294A>G | CA352912800 | GNAT1 | c.179A>G (p.Glu60Gly) c.35A>G (p.Glu12Gly) n.459A>G | |
| 3 | g.50193294A>T | CA352912799 | GNAT1 | c.179A>T (p.Glu60Val) c.35A>T (p.Glu12Val) n.459A>T | |
| 3 | g.50193295A>C | CA352912810 | GNAT1 | c.180A>C (p.Glu60Asp) c.36A>C (p.Glu12Asp) n.460A>C | |
| 3 | g.50193295A>G | CA433860411 | GNAT1 | c.180A>G (p.Glu60=) c.36A>G (p.Glu12=) n.460A>G | |
| 3 | g.50193295A>T | CA352912811 | GNAT1 | c.180A>T (p.Glu60Asp) c.36A>T (p.Glu12Asp) n.460A>T | |
| 3 | g.50193296G>A | CA352912812 | GNAT1 | c.181G>A (p.Glu61Lys) c.37G>A (p.Glu13Lys) n.461G>A | |
| 3 | g.50193296G>C | CA352912814 | GNAT1 | c.181G>C (p.Glu61Gln) c.37G>C (p.Glu13Gln) n.461G>C | |
| 3 | g.50193296G>T | CA352912816 | GNAT1 | c.181G>T (p.Glu61Ter) c.37G>T (p.Glu13Ter) n.461G>T | |
| 3 | g.50193297A>C | CA352912830 | GNAT1 | c.182A>C (p.Glu61Ala) c.38A>C (p.Glu13Ala) n.462A>C | |
| 3 | g.50193297A>G | CA352912832 | GNAT1 | c.182A>G (p.Glu61Gly) c.38A>G (p.Glu13Gly) n.462A>G | |
| 3 | g.50193297A>T | CA352912834 | GNAT1 | c.182A>T (p.Glu61Val) c.38A>T (p.Glu13Val) n.462A>T | |
| 3 | g.50193298G>A | CA433860416 | GNAT1 | c.183G>A (p.Glu61=) c.39G>A (p.Glu13=) n.463G>A | |
| 3 | g.50193298G>C | CA352912837 | GNAT1 | c.183G>C (p.Glu61Asp) c.39G>C (p.Glu13Asp) n.463G>C | gnomAD v4 |
| 3 | g.50193298G>T | CA352912855 | GNAT1 | c.183G>T (p.Glu61Asp) c.39G>T (p.Glu13Asp) n.463G>T | |
| 3 | g.50193299T>A | CA352912866 | GNAT1 | c.184T>A (p.Cys62Ser) c.40T>A (p.Cys14Ser) n.464T>A | |
| 3 | g.50193299T>C | CA352912874 | GNAT1 | c.184T>C (p.Cys62Arg) c.40T>C (p.Cys14Arg) n.464T>C | |
| 3 | g.50193299T>G | CA352912879 | GNAT1 | c.184T>G (p.Cys62Gly) c.40T>G (p.Cys14Gly) n.464T>G | |
| 3 | g.50193300G>A | CA352912883 | GNAT1 | c.185G>A (p.Cys62Tyr) c.41G>A (p.Cys14Tyr) n.465G>A | |
| 3 | g.50193300G>C | CA352912898 | GNAT1 | c.185G>C (p.Cys62Ser) c.41G>C (p.Cys14Ser) n.465G>C | |
| 3 | g.50193300G>T | CA352912896 | GNAT1 | c.185G>T (p.Cys62Phe) c.41G>T (p.Cys14Phe) n.465G>T | |
| 3 | g.50193301C>A | CA352912901 | GNAT1 | c.186C>A (p.Cys62Ter) c.42C>A (p.Cys14Ter) n.466C>A | |
| 3 | g.50193301C= | CA1363836739 | GNAT1 | c.186C= (p.Cys62=) c.42C= (p.Cys14=) n.466C= | |
| 3 | g.50193301C>G | CA352912902 | GNAT1 | c.186C>G (p.Cys62Trp) c.42C>G (p.Cys14Trp) n.466C>G | |
| 3 | g.50193301C>T | CA433860421 | GNAT1 | c.186C>T (p.Cys62=) c.42C>T (p.Cys14=) n.466C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193302C>A | CA352912907 | GNAT1 | c.187C>A (p.Leu63Ile) c.43C>A (p.Leu15Ile) n.467C>A | |
| 3 | g.50193302C= | CA1363836740 | GNAT1 | c.187C= (p.Leu63=) c.43C= (p.Leu15=) n.467C= | |
| 3 | g.50193302C>G | CA352912911 | GNAT1 | c.187C>G (p.Leu63Val) c.43C>G (p.Leu15Val) n.467C>G | dbSNP |
| 3 | g.50193302C>T | CA352912928 | GNAT1 | c.187C>T (p.Leu63Phe) c.43C>T (p.Leu15Phe) n.467C>T | gnomAD v4 |
| 3 | g.50193303T>A | CA352912936 | GNAT1 | c.188T>A (p.Leu63His) c.44T>A (p.Leu15His) n.468T>A | |
| 3 | g.50193303T>C | CA352912957 | GNAT1 | c.188T>C (p.Leu63Pro) c.44T>C (p.Leu15Pro) n.468T>C | |
| 3 | g.50193303T>G | CA352912963 | GNAT1 | c.188T>G (p.Leu63Arg) c.44T>G (p.Leu15Arg) n.468T>G | |
| 3 | g.50193304C>A | CA433860422 | GNAT1 | c.189C>A (p.Leu63=) c.45C>A (p.Leu15=) n.469C>A | |
| 3 | g.50193304C>G | CA433860424 | GNAT1 | c.189C>G (p.Leu63=) c.45C>G (p.Leu15=) n.469C>G | |
| 3 | g.50193304C>T | CA433860426 | GNAT1 | c.189C>T (p.Leu63=) c.45C>T (p.Leu15=) n.469C>T | |
| 3 | g.50193305G>A | CA352912976 | GNAT1 | c.190G>A (p.Glu64Lys) c.46G>A (p.Glu16Lys) n.470G>A | gnomAD v4 |
| 3 | g.50193305G>C | CA352912978 | GNAT1 | c.190G>C (p.Glu64Gln) c.46G>C (p.Glu16Gln) n.470G>C | |
| 3 | g.50193305G>T | CA352912988 | GNAT1 | c.190G>T (p.Glu64Ter) c.46G>T (p.Glu16Ter) n.470G>T | |
| 3 | g.50193306A>C | CA352912999 | GNAT1 | c.191A>C (p.Glu64Ala) c.47A>C (p.Glu16Ala) n.471A>C | |
| 3 | g.50193306A>G | CA352913004 | GNAT1 | c.191A>G (p.Glu64Gly) c.47A>G (p.Glu16Gly) n.471A>G | gnomAD v4 |
| 3 | g.50193306A>T | CA352912993 | GNAT1 | c.191A>T (p.Glu64Val) c.47A>T (p.Glu16Val) n.471A>T | |
| 3 | g.50193307G>A | CA433860428 | GNAT1 | c.192G>A (p.Glu64=) c.48G>A (p.Glu16=) n.472G>A | |
| 3 | g.50193307G>C | CA352913008 | GNAT1 | c.192G>C (p.Glu64Asp) c.48G>C (p.Glu16Asp) n.472G>C | |
| 3 | g.50193307G>T | CA352913016 | GNAT1 | c.192G>T (p.Glu64Asp) c.48G>T (p.Glu16Asp) n.472G>T | |
| 3 | g.50193308T>A | CA352913020 | GNAT1 | c.193T>A (p.Phe65Ile) c.49T>A (p.Phe17Ile) n.473T>A | |
| 3 | g.50193308T>C | CA352913022 | GNAT1 | c.193T>C (p.Phe65Leu) c.49T>C (p.Phe17Leu) n.473T>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193308T>G | CA352913024 | GNAT1 | c.193T>G (p.Phe65Val) c.49T>G (p.Phe17Val) n.473T>G | |
| 3 | g.50193308T= | CA1363836741 | GNAT1 | c.193T= (p.Phe65=) c.49T= (p.Phe17=) n.473T= | |
| 3 | g.50193309T>A | CA352913028 | GNAT1 | c.194T>A (p.Phe65Tyr) c.50T>A (p.Phe17Tyr) n.474T>A | |
| 3 | g.50193309T>C | CA352913035 | GNAT1 | c.194T>C (p.Phe65Ser) c.50T>C (p.Phe17Ser) n.474T>C | |
| 3 | g.50193309T>G | CA352913039 | GNAT1 | c.194T>G (p.Phe65Cys) c.50T>G (p.Phe17Cys) n.474T>G | |
| 3 | g.50193310T>A | CA352913043 | GNAT1 | c.195T>A (p.Phe65Leu) c.51T>A (p.Phe17Leu) n.475T>A | |
| 3 | g.50193310T>C | CA433860432 | GNAT1 | c.195T>C (p.Phe65=) c.51T>C (p.Phe17=) n.475T>C | |
| 3 | g.50193310T>G | CA352913060 | GNAT1 | c.195T>G (p.Phe65Leu) c.51T>G (p.Phe17Leu) n.475T>G | |
| 3 | g.50193311A>C | CA352913073 | GNAT1 | c.196A>C (p.Ile66Leu) c.52A>C (p.Ile18Leu) n.476A>C | gnomAD v4 |
| 3 | g.50193311A>G | CA352913074 | GNAT1 | c.196A>G (p.Ile66Val) c.52A>G (p.Ile18Val) n.476A>G | |
| 3 | g.50193311A>T | CA352913078 | GNAT1 | c.196A>T (p.Ile66Phe) c.52A>T (p.Ile18Phe) n.476A>T | |
| 3 | g.50193312T>A | CA352913091 | GNAT1 | c.197T>A (p.Ile66Asn) c.53T>A (p.Ile18Asn) n.477T>A | |
| 3 | g.50193312T>C | CA352913089 | GNAT1 | c.197T>C (p.Ile66Thr) c.53T>C (p.Ile18Thr) n.477T>C | |
| 3 | g.50193312T>G | CA352913084 | GNAT1 | c.197T>G (p.Ile66Ser) c.53T>G (p.Ile18Ser) n.477T>G | |
| 3 | g.50193313C>A | CA433860436 | GNAT1 | c.198C>A (p.Ile66=) c.54C>A (p.Ile18=) n.478C>A | |
| 3 | g.50193313C>G | CA352913095 | GNAT1 | c.198C>G (p.Ile66Met) c.54C>G (p.Ile18Met) n.478C>G | |
| 3 | g.50193313C>T | CA433860437 | GNAT1 | c.198C>T (p.Ile66=) c.54C>T (p.Ile18=) n.478C>T | gnomAD v4 |
| 3 | g.50193314G>A | CA352913100 | GNAT1 | c.199G>A (p.Ala67Thr) c.55G>A (p.Ala19Thr) n.479G>A | gnomAD v4 |
| 3 | g.50193314G>C | CA352913106 | GNAT1 | c.199G>C (p.Ala67Pro) c.55G>C (p.Ala19Pro) n.479G>C | |
| 3 | g.50193314G>T | CA352913114 | GNAT1 | c.199G>T (p.Ala67Ser) c.55G>T (p.Ala19Ser) n.479G>T | |
| 3 | g.50193315C>A | CA352913121 | GNAT1 | c.200C>A (p.Ala67Asp) c.56C>A (p.Ala19Asp) n.480C>A | |
| 3 | g.50193315C>G | CA352913139 | GNAT1 | c.200C>G (p.Ala67Gly) c.56C>G (p.Ala19Gly) n.480C>G | |
| 3 | g.50193315C>T | CA352913142 | GNAT1 | c.200C>T (p.Ala67Val) c.56C>T (p.Ala19Val) n.480C>T | |
| 3 | g.50193316C>A | CA433860438 | GNAT1 | c.201C>A (p.Ala67=) c.57C>A (p.Ala19=) n.481C>A | |
| 3 | g.50193316C>G | CA433860439 | GNAT1 | c.201C>G (p.Ala67=) c.57C>G (p.Ala19=) n.481C>G | |
| 3 | g.50193316C>T | CA433860440 | GNAT1 | c.201C>T (p.Ala67=) c.57C>T (p.Ala19=) n.481C>T | ClinVar gnomAD v4 |
| 3 | g.50193317A>C | CA352913145 | GNAT1 | c.202A>C (p.Ile68Leu) c.58A>C (p.Ile20Leu) n.482A>C | |
| 3 | g.50193317A>G | CA352913147 | GNAT1 | c.202A>G (p.Ile68Val) c.58A>G (p.Ile20Val) n.482A>G | gnomAD v4 |
| 3 | g.50193317A>T | CA352913151 | GNAT1 | c.202A>T (p.Ile68Phe) c.58A>T (p.Ile20Phe) n.482A>T | |
| 3 | g.50193318T>A | CA352913155 | GNAT1 | c.203T>A (p.Ile68Asn) c.59T>A (p.Ile20Asn) n.483T>A | gnomAD v4 |
| 3 | g.50193318T>C | CA352913162 | GNAT1 | c.203T>C (p.Ile68Thr) c.59T>C (p.Ile20Thr) n.483T>C | gnomAD v4 |
| 3 | g.50193318T>G | CA352913166 | GNAT1 | c.203T>G (p.Ile68Ser) c.59T>G (p.Ile20Ser) n.483T>G |