OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50627185A= | CA2410959476 | ARSA | c.446T= (p.Ile149=) c.188T= (p.Ile63=) n.837T= | |
| 22 | g.50627185A>C | CA412180085 | ARSA | c.446T>G (p.Ile149Ser) c.188T>G (p.Ile63Ser) n.837T>G | |
| 22 | g.50627185A>G | CA412180088 | ARSA | c.446T>C (p.Ile149Thr) c.188T>C (p.Ile63Thr) n.837T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627185A>T | CA412180091 | ARSA | c.446T>A (p.Ile149Asn) c.188T>A (p.Ile63Asn) n.837T>A | |
| 22 | g.50627186T>A | CA412180096 | ARSA | c.445A>T (p.Ile149Phe) c.187A>T (p.Ile63Phe) n.836A>T | |
| 22 | g.50627186T>C | CA412180099 | ARSA | c.445A>G (p.Ile149Val) c.187A>G (p.Ile63Val) n.836A>G | |
| 22 | g.50627186T>G | CA412180101 | ARSA | c.445A>C (p.Ile149Leu) c.187A>C (p.Ile63Leu) n.836A>C | |
| 22 | g.50627187G>A | CA515391365 | ARSA | c.444C>T (p.Gly148=) c.186C>T (p.Gly62=) n.835C>T | |
| 22 | g.50627187G>C | CA515391366 | ARSA | c.444C>G (p.Gly148=) c.186C>G (p.Gly62=) n.835C>G | |
| 22 | g.50627187G>T | CA515391368 | ARSA | c.444C>A (p.Gly148=) c.186C>A (p.Gly62=) n.835C>A | |
| 22 | g.50627188C>A | CA412180105 | ARSA | c.443G>T (p.Gly148Val) c.185G>T (p.Gly62Val) n.834G>T | |
| 22 | g.50627188C>G | CA412180109 | ARSA | c.443G>C (p.Gly148Ala) c.185G>C (p.Gly62Ala) n.834G>C | |
| 22 | g.50627188C>T | CA412180112 | ARSA | c.443G>A (p.Gly148Asp) c.185G>A (p.Gly62Asp) n.834G>A | |
| 22 | g.50627189C>A | CA412180116 | ARSA | c.442G>T (p.Gly148Cys) c.184G>T (p.Gly62Cys) n.833G>T | |
| 22 | g.50627189C= | CA2410959477 | ARSA | c.442G= (p.Gly148=) c.184G= (p.Gly62=) n.833G= | |
| 22 | g.50627189C>G | CA412180122 | ARSA | c.442G>C (p.Gly148Arg) c.184G>C (p.Gly62Arg) n.833G>C | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627189C>T | CA412180119 | ARSA | c.442G>A (p.Gly148Ser) c.184G>A (p.Gly62Ser) n.833G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50627190T>A | CA515391374 | ARSA | c.441A>T (p.Leu147=) c.183A>T (p.Leu61=) n.832A>T | |
| 22 | g.50627190T>C | CA515391375 | ARSA | c.441A>G (p.Leu147=) c.183A>G (p.Leu61=) n.832A>G | gnomAD v4 |
| 22 | g.50627190T>G | CA515391376 | ARSA | c.441A>C (p.Leu147=) c.183A>C (p.Leu61=) n.832A>C | |
| 22 | g.50627191A>C | CA412180124 | ARSA | c.440T>G (p.Leu147Arg) c.182T>G (p.Leu61Arg) n.831T>G | |
| 22 | g.50627191A>G | CA412180126 | ARSA | c.440T>C (p.Leu147Pro) c.182T>C (p.Leu61Pro) n.831T>C | |
| 22 | g.50627191A>T | CA412180127 | ARSA | c.440T>A (p.Leu147Gln) c.182T>A (p.Leu61Gln) n.831T>A | |
| 22 | g.50627192G>A | CA515391382 | ARSA | c.439C>T (p.Leu147=) c.181C>T (p.Leu61=) n.830C>T | |
| 22 | g.50627192G>C | CA412180130 | ARSA | c.439C>G (p.Leu147Val) c.181C>G (p.Leu61Val) n.830C>G | |
| 22 | g.50627192G>T | CA412180132 | ARSA | c.439C>A (p.Leu147Ile) c.181C>A (p.Leu61Ile) n.830C>A | |
| 22 | g.50627193A>C | CA412180136 | ARSA | c.438T>G (p.Phe146Leu) c.180T>G (p.Phe60Leu) n.829T>G | |
| 22 | g.50627193A>G | CA515391386 | ARSA | c.438T>C (p.Phe146=) c.180T>C (p.Phe60=) n.829T>C | |
| 22 | g.50627193A>T | CA412180139 | ARSA | c.438T>A (p.Phe146Leu) c.180T>A (p.Phe60Leu) n.829T>A | |
| 22 | g.50627194A= | CA2410959478 | ARSA | c.437T= (p.Phe146=) c.179T= (p.Phe60=) n.828T= | |
| 22 | g.50627194A>C | CA412180145 | ARSA | c.437T>G (p.Phe146Cys) c.179T>G (p.Phe60Cys) n.828T>G | |
| 22 | g.50627194A>G | CA412180147 | ARSA | c.437T>C (p.Phe146Ser) c.179T>C (p.Phe60Ser) n.828T>C | |
| 22 | g.50627194A>T | CA412180150 | ARSA | c.437T>A (p.Phe146Tyr) c.179T>A (p.Phe60Tyr) n.828T>A | dbSNP |
| 22 | g.50627195A= | CA2410959479 | ARSA | c.436T= (p.Phe146=) c.178T= (p.Phe60=) n.827T= | |
| 22 | g.50627195A>C | CA412180155 | ARSA | c.436T>G (p.Phe146Val) c.178T>G (p.Phe60Val) n.827T>G | |
| 22 | g.50627195A>G | CA10325032 | ARSA | c.436T>C (p.Phe146Leu) c.178T>C (p.Phe60Leu) n.827T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627195A>T | CA412180161 | ARSA | c.436T>A (p.Phe146Ile) c.178T>A (p.Phe60Ile) n.827T>A | |
| 22 | g.50627196T>A | CA515391390 | ARSA | c.435A>T (p.Arg145=) c.177A>T (p.Arg59=) n.826A>T | |
| 22 | g.50627196T>C | CA515391391 | ARSA | c.435A>G (p.Arg145=) c.177A>G (p.Arg59=) n.826A>G | |
| 22 | g.50627196T>G | CA515391392 | ARSA | c.435A>C (p.Arg145=) c.177A>C (p.Arg59=) n.826A>C | |
| 22 | g.50627197C>A | CA412180165 | ARSA | c.434G>T (p.Arg145Leu) c.176G>T (p.Arg59Leu) n.825G>T | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627197C= | CA2410959480 | ARSA | c.434G= (p.Arg145=) c.176G= (p.Arg59=) n.825G= | |
| 22 | g.50627197C>G | CA412180172 | ARSA | c.434G>C (p.Arg145Pro) c.176G>C (p.Arg59Pro) n.825G>C | gnomAD v4 |
| 22 | g.50627197C>T | CA10325033 | ARSA | c.434G>A (p.Arg145Gln) c.176G>A (p.Arg59Gln) n.825G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627198G>A | CA412180174 | ARSA | c.433C>T (p.Arg145Ter) c.175C>T (p.Arg59Ter) n.824C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50627198G>C | CA219022 | ARSA | c.433C>G (p.Arg145Gly) c.175C>G (p.Arg59Gly) n.824C>G | ClinVar dbSNP gnomAD v4 |
| 22 | g.50627198G= | CA2410959481 | ARSA | c.433C= (p.Arg145=) c.175C= (p.Arg59=) n.824C= | |
| 22 | g.50627198G>T | CA515391398 | ARSA | c.433C>A (p.Arg145=) c.175C>A (p.Arg59=) n.824C>A | |
| 22 | g.50627199A>C | CA412180177 | ARSA | c.432T>G (p.His144Gln) c.174T>G (p.His58Gln) n.823T>G | |
| 22 | g.50627199A>G | CA515391401 | ARSA | c.432T>C (p.His144=) c.174T>C (p.His58=) n.823T>C | |
| 22 | g.50627199A>T | CA412180179 | ARSA | c.432T>A (p.His144Gln) c.174T>A (p.His58Gln) n.823T>A | |
| 22 | g.50627200T>A | CA412180181 | ARSA | c.431A>T (p.His144Leu) c.173A>T (p.His58Leu) n.822A>T | |
| 22 | g.50627200T>C | CA412180182 | ARSA | c.431A>G (p.His144Arg) c.173A>G (p.His58Arg) n.822A>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50627200T>G | CA412180184 | ARSA | c.431A>C (p.His144Pro) c.173A>C (p.His58Pro) n.822A>C | dbSNP gnomAD v4 |
| 22 | g.50627200T= | CA2410959482 | ARSA | c.431A= (p.His144=) c.173A= (p.His58=) n.822A= | |
| 22 | g.50627201G>A | CA412180186 | ARSA | c.430C>T (p.His144Tyr) c.172C>T (p.His58Tyr) n.821C>T | gnomAD v4 |
| 22 | g.50627201G>C | CA412180188 | ARSA | c.430C>G (p.His144Asp) c.172C>G (p.His58Asp) n.821C>G | |
| 22 | g.50627201G>T | CA412180190 | ARSA | c.430C>A (p.His144Asn) c.172C>A (p.His58Asn) n.821C>A | |
| 22 | g.50627202G>A | CA10325034 | ARSA | c.429C>T (p.Phe143=) c.171C>T (p.Phe57=) n.820C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627202G>C | CA412180195 | ARSA | c.429C>G (p.Phe143Leu) c.171C>G (p.Phe57Leu) n.820C>G | |
| 22 | g.50627202G= | CA2410959483 | ARSA | c.429C= (p.Phe143=) c.171C= (p.Phe57=) n.820C= | |
| 22 | g.50627202G>T | CA412180192 | ARSA | c.429C>A (p.Phe143Leu) c.171C>A (p.Phe57Leu) n.820C>A | |
| 22 | g.50627203A= | CA2410959484 | ARSA | c.428T= (p.Phe143=) c.170T= (p.Phe57=) n.819T= | |
| 22 | g.50627203A>C | CA412180202 | ARSA | c.428T>G (p.Phe143Cys) c.170T>G (p.Phe57Cys) n.819T>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50627203A>G | CA412180212 | ARSA | c.428T>C (p.Phe143Ser) c.170T>C (p.Phe57Ser) n.819T>C | |
| 22 | g.50627203A>T | CA412180205 | ARSA | c.428T>A (p.Phe143Tyr) c.170T>A (p.Phe57Tyr) n.819T>A | |
| 22 | g.50627204A>C | CA412180217 | ARSA | c.427T>G (p.Phe143Val) c.169T>G (p.Phe57Val) n.818T>G | |
| 22 | g.50627204A>G | CA412180220 | ARSA | c.427T>C (p.Phe143Leu) c.169T>C (p.Phe57Leu) n.818T>C | ClinVar |
| 22 | g.50627204A>T | CA412180225 | ARSA | c.427T>A (p.Phe143Ile) c.169T>A (p.Phe57Ile) n.818T>A | |
| 22 | g.50627205G>A | CA515391409 | ARSA | c.426C>T (p.Gly142=) c.168C>T (p.Gly56=) n.817C>T | |
| 22 | g.50627205G>C | CA515391410 | ARSA | c.426C>G (p.Gly142=) c.168C>G (p.Gly56=) n.817C>G | |
| 22 | g.50627205G>T | CA515391408 | ARSA | c.426C>A (p.Gly142=) c.168C>A (p.Gly56=) n.817C>A | |
| 22 | g.50627206C>A | CA412180229 | ARSA | c.425G>T (p.Gly142Val) c.167G>T (p.Gly56Val) n.816G>T | |
| 22 | g.50627206C>G | CA412180235 | ARSA | c.425G>C (p.Gly142Ala) c.167G>C (p.Gly56Ala) n.816G>C | |
| 22 | g.50627206C>T | CA412180240 | ARSA | c.425G>A (p.Gly142Asp) c.167G>A (p.Gly56Asp) n.816G>A | |
| 22 | g.50627209_50627241del | CA2573158321 | ARSA | c.393_425del (p.Pro132_Gly142del) c.135_167del (p.Pro46_Gly56del) n.784_816del | ClinVar dbSNP |
| 22 | g.50627207C>A | CA412180247 | ARSA | c.424G>T (p.Gly142Cys) c.166G>T (p.Gly56Cys) n.815G>T | |
| 22 | g.50627207C>G | CA412180250 | ARSA | c.424G>C (p.Gly142Arg) c.166G>C (p.Gly56Arg) n.815G>C | |
| 22 | g.50627207C>T | CA412180257 | ARSA | c.424G>A (p.Gly142Ser) c.166G>A (p.Gly56Ser) n.815G>A | ClinVar dbSNP |
| 22 | g.50627208C>A | CA412180261 | ARSA | c.423G>T (p.Gln141His) c.165G>T (p.Gln55His) n.814G>T | |
| 22 | g.50627208C>G | CA412180265 | ARSA | c.423G>C (p.Gln141His) c.165G>C (p.Gln55His) n.814G>C | |
| 22 | g.50627208C>T | CA515391415 | ARSA | c.423G>A (p.Gln141=) c.165G>A (p.Gln55=) n.814G>A | gnomAD v4 COSMIC |
| 22 | g.50627209del | CA2580099989 | ARSA | c.422del (p.Gln141ArgfsTer7) c.164del (p.Gln55ArgfsTer7) n.813del | ClinVar |
| 22 | g.50627209T>A | CA412180271 | ARSA | c.422A>T (p.Gln141Leu) c.164A>T (p.Gln55Leu) n.813A>T | |
| 22 | g.50627209T>C | CA412180276 | ARSA | c.422A>G (p.Gln141Arg) c.164A>G (p.Gln55Arg) n.813A>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50627209T>G | CA412180273 | ARSA | c.422A>C (p.Gln141Pro) c.164A>C (p.Gln55Pro) n.813A>C | |
| 22 | g.50627209T= | CA2410959485 | ARSA | c.422A= (p.Gln141=) c.164A= (p.Gln55=) n.813A= | |
| 22 | g.50627210G>A | CA16042044 | ARSA | c.421C>T (p.Gln141Ter) c.163C>T (p.Gln55Ter) n.812C>T | ClinVar dbSNP |
| 22 | g.50627210G>C | CA412180284 | ARSA | c.421C>G (p.Gln141Glu) c.163C>G (p.Gln55Glu) n.812C>G | |
| 22 | g.50627210G= | CA2410959486 | ARSA | c.421C= (p.Gln141=) c.163C= (p.Gln55=) n.812C= | |
| 22 | g.50627210G>T | CA412180289 | ARSA | c.421C>A (p.Gln141Lys) c.163C>A (p.Gln55Lys) n.812C>A | |
| 22 | g.50627211A>C | CA412180295 | ARSA | c.420T>G (p.His140Gln) c.162T>G (p.His54Gln) n.811T>G | |
| 22 | g.50627211A>G | CA515391416 | ARSA | c.420T>C (p.His140=) c.162T>C (p.His54=) n.811T>C | |
| 22 | g.50627211A>T | CA412180306 | ARSA | c.420T>A (p.His140Gln) c.162T>A (p.His54Gln) n.811T>A | |
| 22 | g.50627211_50627212insG | CA645612062 | ARSA | c.419_420insC (p.Gln141SerfsTer?) c.161_162insC (p.Gln55SerfsTer?) n.810_811insC | COSMIC |
| 22 | g.50627212T>A | CA412180308 | ARSA | c.419A>T (p.His140Leu) c.161A>T (p.His54Leu) n.810A>T | ClinVar dbSNP gnomAD v4 |
| 22 | g.50627212T>C | CA412180312 | ARSA | c.419A>G (p.His140Arg) c.161A>G (p.His54Arg) n.810A>G | |
| 22 | g.50627212T>G | CA412180316 | ARSA | c.419A>C (p.His140Pro) c.161A>C (p.His54Pro) n.810A>C | |
| 22 | g.50627212T= | CA1139532175 | ARSA | c.419A= (p.His140=) c.161A= (p.His54=) n.810A= | |
| 22 | g.50627212_50627213delinsTG | CA2410959487 | ARSA | c.418_419delinsCA (p.His140=) c.160_161delinsCA (p.His54=) n.809_810delinsCA | |
| 22 | g.50627213G>A | CA10325037 | ARSA | c.418C>T (p.His140Tyr) c.160C>T (p.His54Tyr) n.809C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627213G>C | CA219020 | ARSA | c.418C>G (p.His140Asp) c.160C>G (p.His54Asp) n.809C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627213G= | CA2410959488 | ARSA | c.418C= (p.His140=) c.160C= (p.His54=) n.809C= | |
| 22 | g.50627213G>T | CA412180330 | ARSA | c.418C>A (p.His140Asn) c.160C>A (p.His54Asn) n.809C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627219dup | CA10325035 | ARSA | c.418dup (p.His140ProfsTer?) c.160dup (p.His54ProfsTer?) n.809dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50627218_50627219dup | CA2819314707 | ARSA | c.417_418dup (p.His140ProfsTer9) c.159_160dup (p.His54ProfsTer9) n.808_809dup | |
| 22 | g.50627219del | CA10325036 | ARSA | c.418del (p.His140IlefsTer8) c.160del (p.His54IlefsTer8) n.809del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.50627217_50627219del | CA2695231030 | ARSA | c.416_418del (p.Pro139del) c.158_160del (p.Pro53del) n.807_809del | |
| 22 | g.50627214G>A | CA10325038 | ARSA | c.417C>T (p.Pro139=) c.159C>T (p.Pro53=) n.808C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627214G>C | CA10325039 | ARSA | c.417C>G (p.Pro139=) c.159C>G (p.Pro53=) n.808C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627214G= | CA2410959489 | ARSA | c.417C= (p.Pro139=) c.159C= (p.Pro53=) n.808C= | |
| 22 | g.50627214G>T | CA515391419 | ARSA | c.417C>A (p.Pro139=) c.159C>A (p.Pro53=) n.808C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627215G>A | CA412180359 | ARSA | c.416C>T (p.Pro139Leu) c.158C>T (p.Pro53Leu) n.807C>T | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627215G>C | CA412180363 | ARSA | c.416C>G (p.Pro139Arg) c.158C>G (p.Pro53Arg) n.807C>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50627215G= | CA2410959490 | ARSA | c.416C= (p.Pro139=) c.158C= (p.Pro53=) n.807C= | |
| 22 | g.50627215G>T | CA412180373 | ARSA | c.416C>A (p.Pro139His) c.158C>A (p.Pro53His) n.807C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627216G>A | CA412180374 | ARSA | c.415C>T (p.Pro139Ser) c.157C>T (p.Pro53Ser) n.806C>T | gnomAD v4 COSMIC |
| 22 | g.50627216G>C | CA412180375 | ARSA | c.415C>G (p.Pro139Ala) c.157C>G (p.Pro53Ala) n.806C>G | |
| 22 | g.50627216G>T | CA412180377 | ARSA | c.415C>A (p.Pro139Thr) c.157C>A (p.Pro53Thr) n.806C>A | |
| 22 | g.50627217G>A | CA515391421 | ARSA | c.414C>T (p.Pro138=) c.156C>T (p.Pro52=) n.805C>T | ClinVar dbSNP COSMIC |
| 22 | g.50627217G>C | CA325531575 | ARSA | c.414C>G (p.Pro138=) c.156C>G (p.Pro52=) n.805C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627217G= | CA2410959491 | ARSA | c.414C= (p.Pro138=) c.156C= (p.Pro52=) n.805C= | |
| 22 | g.50627217G>T | CA515391424 | ARSA | c.414C>A (p.Pro138=) c.156C>A (p.Pro52=) n.805C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627218G>A | CA115977 | ARSA | c.413C>T (p.Pro138Leu) c.155C>T (p.Pro52Leu) n.804C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627218G>C | CA412180391 | ARSA | c.413C>G (p.Pro138Arg) c.155C>G (p.Pro52Arg) n.804C>G | ClinVar dbSNP |
| 22 | g.50627218G= | CA2410959492 | ARSA | c.413C= (p.Pro138=) c.155C= (p.Pro52=) n.804C= | |
| 22 | g.50627218G>T | CA412180394 | ARSA | c.413C>A (p.Pro138His) c.155C>A (p.Pro52His) n.804C>A | ClinVar dbSNP |
| 22 | g.50627218_50627219insC | CA2657593847 | ARSA | c.412_413insG (p.Pro138ArgfsTer?) c.154_155insG (p.Pro52ArgfsTer?) n.803_804insG | gnomAD v4 |
| 22 | g.50627219G>A | CA219018 | ARSA | c.412C>T (p.Pro138Ser) c.154C>T (p.Pro52Ser) n.803C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627219G>C | CA325531576 | ARSA | c.412C>G (p.Pro138Ala) c.154C>G (p.Pro52Ala) n.803C>G | ClinVar dbSNP |
| 22 | g.50627219G= | CA2410959493 | ARSA | c.412C= (p.Pro138=) c.154C= (p.Pro52=) n.803C= | |
| 22 | g.50627219G>T | CA10325040 | ARSA | c.412C>A (p.Pro138Thr) c.154C>A (p.Pro52Thr) n.803C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627220C>A | CA515391431 | ARSA | c.411G>T (p.Leu137=) c.153G>T (p.Leu51=) n.802G>T | |
| 22 | g.50627220C>G | CA515391427 | ARSA | c.411G>C (p.Leu137=) c.153G>C (p.Leu51=) n.802G>C | |
| 22 | g.50627220C>T | CA515391429 | ARSA | c.411G>A (p.Leu137=) c.153G>A (p.Leu51=) n.802G>A | |
| 22 | g.50627221A= | CA2410959494 | ARSA | c.410T= (p.Leu137=) c.152T= (p.Leu51=) n.801T= | |
| 22 | g.50627221A>C | CA412180410 | ARSA | c.410T>G (p.Leu137Arg) c.152T>G (p.Leu51Arg) n.801T>G | |
| 22 | g.50627221A>G | CA116003 | ARSA | c.410T>C (p.Leu137Pro) c.152T>C (p.Leu51Pro) n.801T>C | ClinVar dbSNP |
| 22 | g.50627221A>T | CA412180423 | ARSA | c.410T>A (p.Leu137Gln) c.152T>A (p.Leu51Gln) n.801T>A | |
| 22 | g.50627221_50627233del | CA913088709 | ARSA | c.398_410del (p.Glu133GlyfsTer11) c.140_152del (p.Glu47GlyfsTer11) n.789_801del | |
| 22 | g.50627221_50627233delinsAGGAAGGCCCCCT | CA2410959495 | ARSA | c.398_410delinsAGGGGGCCTTCCT (p.Glu133=) c.140_152delinsAGGGGGCCTTCCT (p.Glu47=) n.789_801delinsAGGGGGCCTTCCT | |
| 22 | g.50627222G>A | CA515391433 | ARSA | c.409C>T (p.Leu137=) c.151C>T (p.Leu51=) n.800C>T | ClinVar dbSNP |
| 22 | g.50627222G>C | CA412180427 | ARSA | c.409C>G (p.Leu137Val) c.151C>G (p.Leu51Val) n.800C>G | |
| 22 | g.50627222G>T | CA412180433 | ARSA | c.409C>A (p.Leu137Met) c.151C>A (p.Leu51Met) n.800C>A | |
| 22 | g.50627222_50627233del | CA658824688 | ARSA | c.398_409del (p.Glu133_Leu137delinsVal) c.140_151del (p.Glu47_Leu51delinsVal) n.789_800del | ClinVar dbSNP |
| 22 | g.50627223G>A | CA515391434 | ARSA | c.408C>T (p.Phe136=) c.150C>T (p.Phe50=) n.799C>T | |
| 22 | g.50627223G>C | CA412180438 | ARSA | c.408C>G (p.Phe136Leu) c.150C>G (p.Phe50Leu) n.799C>G | |
| 22 | g.50627223G>T | CA412180441 | ARSA | c.408C>A (p.Phe136Leu) c.150C>A (p.Phe50Leu) n.799C>A | |
| 22 | g.50627224A= | CA2410959496 | ARSA | c.407T= (p.Phe136=) c.149T= (p.Phe50=) n.798T= | |
| 22 | g.50627224A>C | CA412180442 | ARSA | c.407T>G (p.Phe136Cys) c.149T>G (p.Phe50Cys) n.798T>G | |
| 22 | g.50627224A>G | CA412180443 | ARSA | c.407T>C (p.Phe136Ser) c.149T>C (p.Phe50Ser) n.798T>C | dbSNP |
| 22 | g.50627224A>T | CA412180444 | ARSA | c.407T>A (p.Phe136Tyr) c.149T>A (p.Phe50Tyr) n.798T>A | |
| 22 | g.50627225A>C | CA412180449 | ARSA | c.406T>G (p.Phe136Val) c.148T>G (p.Phe50Val) n.797T>G | |
| 22 | g.50627225A>G | CA412180453 | ARSA | c.406T>C (p.Phe136Leu) c.148T>C (p.Phe50Leu) n.797T>C | gnomAD v4 |
| 22 | g.50627225A>T | CA412180455 | ARSA | c.406T>A (p.Phe136Ile) c.148T>A (p.Phe50Ile) n.797T>A | |
| 22 | g.50627232_50627241del | CA2657593850 | ARSA | c.397_406del (p.Glu133SerfsTer12) c.139_148del (p.Glu47SerfsTer12) n.788_797del | gnomAD v4 |
| 22 | g.50627226G>A | CA515391437 | ARSA | c.405C>T (p.Ala135=) c.147C>T (p.Ala49=) n.796C>T | |
| 22 | g.50627226G>C | CA515391439 | ARSA | c.405C>G (p.Ala135=) c.147C>G (p.Ala49=) n.796C>G | |
| 22 | g.50627226G>T | CA515391438 | ARSA | c.405C>A (p.Ala135=) c.147C>A (p.Ala49=) n.796C>A | |
| 22 | g.50627227G>A | CA412180458 | ARSA | c.404C>T (p.Ala135Val) c.146C>T (p.Ala49Val) n.795C>T | gnomAD v4 |
| 22 | g.50627227G>C | CA412180463 | ARSA | c.404C>G (p.Ala135Gly) c.146C>G (p.Ala49Gly) n.795C>G | |
| 22 | g.50627227G= | CA2410959497 | ARSA | c.404C= (p.Ala135=) c.146C= (p.Ala49=) n.795C= | |
| 22 | g.50627227G>T | CA10325041 | ARSA | c.404C>A (p.Ala135Asp) c.146C>A (p.Ala49Asp) n.795C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627228C>A | CA412180477 | ARSA | c.403G>T (p.Ala135Ser) c.145G>T (p.Ala49Ser) n.794G>T | |
| 22 | g.50627228C>G | CA412180473 | ARSA | c.403G>C (p.Ala135Pro) c.145G>C (p.Ala49Pro) n.794G>C | |
| 22 | g.50627228C>T | CA412180483 | ARSA | c.403G>A (p.Ala135Thr) c.145G>A (p.Ala49Thr) n.794G>A | |
| 22 | g.50627232del | CA2657593851 | ARSA | c.403del (p.Ala135ProfsTer13) c.145del (p.Ala49ProfsTer13) n.794del | gnomAD v4 |
| 22 | g.50627229C>A | CA515391443 | ARSA | c.402G>T (p.Gly134=) c.144G>T (p.Gly48=) n.793G>T | gnomAD v4 |
| 22 | g.50627229C= | CA2410959498 | ARSA | c.402G= (p.Gly134=) c.144G= (p.Gly48=) n.793G= | |
| 22 | g.50627229C>G | CA515391444 | ARSA | c.402G>C (p.Gly134=) c.144G>C (p.Gly48=) n.793G>C | dbSNP gnomAD v4 |
| 22 | g.50627229C>T | CA515391445 | ARSA | c.402G>A (p.Gly134=) c.144G>A (p.Gly48=) n.793G>A | gnomAD v4 |
| 22 | g.50627230C>A | CA412180487 | ARSA | c.401G>T (p.Gly134Val) c.143G>T (p.Gly48Val) n.792G>T | |
| 22 | g.50627230C>G | CA412180490 | ARSA | c.401G>C (p.Gly134Ala) c.143G>C (p.Gly48Ala) n.792G>C | COSMIC |
| 22 | g.50627230C>T | CA412180495 | ARSA | c.401G>A (p.Gly134Glu) c.143G>A (p.Gly48Glu) n.792G>A | |
| 22 | g.50627231C>A | CA412180498 | ARSA | c.400G>T (p.Gly134Trp) c.142G>T (p.Gly48Trp) n.791G>T | |
| 22 | g.50627231C>G | CA412180502 | ARSA | c.400G>C (p.Gly134Arg) c.142G>C (p.Gly48Arg) n.791G>C | |
| 22 | g.50627231C>T | CA412180503 | ARSA | c.400G>A (p.Gly134Arg) c.142G>A (p.Gly48Arg) n.791G>A | |
| 22 | g.50627232C>A | CA412180504 | ARSA | c.399G>T (p.Glu133Asp) c.141G>T (p.Glu47Asp) n.790G>T | gnomAD v4 |
| 22 | g.50627232C= | CA2410959499 | ARSA | c.399G= (p.Glu133=) c.141G= (p.Glu47=) n.790G= | |
| 22 | g.50627232C>G | CA412180506 | ARSA | c.399G>C (p.Glu133Asp) c.141G>C (p.Glu47Asp) n.790G>C | |
| 22 | g.50627232C>T | CA515391449 | ARSA | c.399G>A (p.Glu133=) c.141G>A (p.Glu47=) n.790G>A | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627233T>A | CA412180511 | ARSA | c.398A>T (p.Glu133Val) c.140A>T (p.Glu47Val) n.789A>T | gnomAD v4 |
| 22 | g.50627233T>C | CA412180515 | ARSA | c.398A>G (p.Glu133Gly) c.140A>G (p.Glu47Gly) n.789A>G | |
| 22 | g.50627233T>G | CA412180520 | ARSA | c.398A>C (p.Glu133Ala) c.140A>C (p.Glu47Ala) n.789A>C | |
| 22 | g.50627234C>A | CA412180545 | ARSA | c.397G>T (p.Glu133Ter) c.139G>T (p.Glu47Ter) n.788G>T | gnomAD v4 |
| 22 | g.50627234C= | CA2410959500 | ARSA | c.397G= (p.Glu133=) c.139G= (p.Glu47=) n.788G= | |
| 22 | g.50627234C>G | CA412180542 | ARSA | c.397G>C (p.Glu133Gln) c.139G>C (p.Glu47Gln) n.788G>C | |
| 22 | g.50627234C>T | CA412180525 | ARSA | c.397G>A (p.Glu133Lys) c.139G>A (p.Glu47Lys) n.788G>A | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627235A= | CA2410959501 | ARSA | c.396T= (p.Pro132=) c.138T= (p.Pro46=) n.787T= | |
| 22 | g.50627235A>C | CA515391454 | ARSA | c.396T>G (p.Pro132=) c.138T>G (p.Pro46=) n.787T>G | |
| 22 | g.50627235A>G | CA325531578 | ARSA | c.396T>C (p.Pro132=) c.138T>C (p.Pro46=) n.787T>C | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50627235A>T | CA515391455 | ARSA | c.396T>A (p.Pro132=) c.138T>A (p.Pro46=) n.787T>A | |
| 22 | g.50627236G>A | CA412180546 | ARSA | c.395C>T (p.Pro132Leu) c.137C>T (p.Pro46Leu) n.786C>T | dbSNP gnomAD v4 |
| 22 | g.50627236G>C | CA412180547 | ARSA | c.395C>G (p.Pro132Arg) c.137C>G (p.Pro46Arg) n.786C>G | |
| 22 | g.50627236G= | CA2410959502 | ARSA | c.395C= (p.Pro132=) c.137C= (p.Pro46=) n.786C= | |
| 22 | g.50627236G>T | CA412180548 | ARSA | c.395C>A (p.Pro132His) c.137C>A (p.Pro46His) n.786C>A | |
| 22 | g.50627237G>A | CA412180561 | ARSA | c.394C>T (p.Pro132Ser) c.136C>T (p.Pro46Ser) n.785C>T | ClinVar gnomAD v4 |
| 22 | g.50627237G>C | CA412180564 | ARSA | c.394C>G (p.Pro132Ala) c.136C>G (p.Pro46Ala) n.785C>G | |
| 22 | g.50627237G= | CA2410959503 | ARSA | c.394C= (p.Pro132=) c.136C= (p.Pro46=) n.785C= | |
| 22 | g.50627237G>T | CA412180570 | ARSA | c.394C>A (p.Pro132Thr) c.136C>A (p.Pro46Thr) n.785C>A | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50627238C>A | CA515391461 | ARSA | c.393G>T (p.Gly131=) c.135G>T (p.Gly45=) n.784G>T | gnomAD v4 |
| 22 | g.50627238C>G | CA515391462 | ARSA | c.393G>C (p.Gly131=) c.135G>C (p.Gly45=) n.784G>C | |
| 22 | g.50627238C>T | CA515391464 | ARSA | c.393G>A (p.Gly131=) c.135G>A (p.Gly45=) n.784G>A | ClinVar dbSNP gnomAD v4 |
| 22 | g.50627239C>A | CA412180573 | ARSA | c.392G>T (p.Gly131Val) c.134G>T (p.Gly45Val) n.783G>T | |
| 22 | g.50627239C= | CA2410959504 | ARSA | c.392G= (p.Gly131=) c.134G= (p.Gly45=) n.783G= | |
| 22 | g.50627239C>G | CA412180575 | ARSA | c.392G>C (p.Gly131Ala) c.134G>C (p.Gly45Ala) n.783G>C | |
| 22 | g.50627239C>T | CA412180582 | ARSA | c.392G>A (p.Gly131Glu) c.134G>A (p.Gly45Glu) n.783G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627240C>A | CA412180591 | ARSA | c.391G>T (p.Gly131Trp) c.133G>T (p.Gly45Trp) n.782G>T | gnomAD v4 |
| 22 | g.50627240C>G | CA412180595 | ARSA | c.391G>C (p.Gly131Arg) c.133G>C (p.Gly45Arg) n.782G>C | |
| 22 | g.50627240C>T | CA412180598 | ARSA | c.391G>A (p.Gly131Arg) c.133G>A (p.Gly45Arg) n.782G>A | |
| 22 | g.50627241C>A | CA515391466 | ARSA | c.390G>T (p.Val130=) c.132G>T (p.Val44=) n.781G>T | gnomAD v4 |
| 22 | g.50627241C>G | CA515391467 | ARSA | c.390G>C (p.Val130=) c.132G>C (p.Val44=) n.781G>C | |
| 22 | g.50627241C>T | CA515391468 | ARSA | c.390G>A (p.Val130=) c.132G>A (p.Val44=) n.781G>A | ClinVar |
| 22 | g.50627242A>C | CA412180607 | ARSA | c.389T>G (p.Val130Gly) c.131T>G (p.Val44Gly) n.780T>G | dbSNP |
| 22 | g.50627242A>G | CA412180604 | ARSA | c.389T>C (p.Val130Ala) c.131T>C (p.Val44Ala) n.780T>C | |
| 22 | g.50627242A>T | CA412180603 | ARSA | c.389T>A (p.Val130Glu) c.131T>A (p.Val44Glu) n.780T>A | |
| 22 | g.50627243C>A | CA412180612 | ARSA | c.388G>T (p.Val130Leu) c.130G>T (p.Val44Leu) n.779G>T | dbSNP |
| 22 | g.50627243C= | CA2410959505 | ARSA | c.388G= (p.Val130=) c.130G= (p.Val44=) n.779G= | |
| 22 | g.50627243C>G | CA412180621 | ARSA | c.388G>C (p.Val130Leu) c.130G>C (p.Val44Leu) n.779G>C | |
| 22 | g.50627243C>T | CA412180625 | ARSA | c.388G>A (p.Val130Met) c.130G>A (p.Val44Met) n.779G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627244C>A | CA515391471 | ARSA | c.387G>T (p.Gly129=) c.129G>T (p.Gly43=) n.778G>T | gnomAD v4 |
| 22 | g.50627244C= | CA2410959506 | ARSA | c.387G= (p.Gly129=) c.129G= (p.Gly43=) n.778G= | |
| 22 | g.50627244C>G | CA10325042 | ARSA | c.387G>C (p.Gly129=) c.129G>C (p.Gly43=) n.778G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627244C>T | CA515391472 | ARSA | c.387G>A (p.Gly129=) c.129G>A (p.Gly43=) n.778G>A | gnomAD v4 |
| 22 | g.50627245C>A | CA412180636 | ARSA | c.386G>T (p.Gly129Val) c.128G>T (p.Gly43Val) n.777G>T | gnomAD v4 |
| 22 | g.50627245C>G | CA412180644 | ARSA | c.386G>C (p.Gly129Ala) c.128G>C (p.Gly43Ala) n.777G>C | |
| 22 | g.50627245C>T | CA412180652 | ARSA | c.386G>A (p.Gly129Glu) c.128G>A (p.Gly43Glu) n.777G>A | ClinVar |
| 22 | g.50627246C>A | CA412180654 | ARSA | c.385G>T (p.Gly129Trp) c.127G>T (p.Gly43Trp) n.776G>T | |
| 22 | g.50627246C= | CA2410959507 | ARSA | c.385G= (p.Gly129=) c.127G= (p.Gly43=) n.776G= | |
| 22 | g.50627246C>G | CA412180656 | ARSA | c.385G>C (p.Gly129Arg) c.127G>C (p.Gly43Arg) n.776G>C | |
| 22 | g.50627246C>T | CA10325043 | ARSA | c.385G>A (p.Gly129Arg) c.127G>A (p.Gly43Arg) n.776G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627247A>C | CA515391476 | ARSA | c.384T>G (p.Leu128=) c.126T>G (p.Leu42=) n.775T>G | |
| 22 | g.50627247A>G | CA515391475 | ARSA | c.384T>C (p.Leu128=) c.126T>C (p.Leu42=) n.775T>C | |
| 22 | g.50627247A>T | CA515391474 | ARSA | c.384T>A (p.Leu128=) c.126T>A (p.Leu42=) n.775T>A | |
| 22 | g.50627247_50627257del | CA2657593856 | ARSA | c.374_384del (p.Lys125ArgfsTer5) c.116_126del (p.Lys39ArgfsTer5) n.765_775del | gnomAD v4 |
| 22 | g.50627248A= | CA2410959508 | ARSA | c.383T= (p.Leu128=) c.125T= (p.Leu42=) n.774T= | |
| 22 | g.50627248A>C | CA412180668 | ARSA | c.383T>G (p.Leu128Arg) c.125T>G (p.Leu42Arg) n.774T>G | dbSNP |
| 22 | g.50627248A>G | CA412180671 | ARSA | c.383T>C (p.Leu128Pro) c.125T>C (p.Leu42Pro) n.774T>C | |
| 22 | g.50627248A>T | CA412180685 | ARSA | c.383T>A (p.Leu128His) c.125T>A (p.Leu42His) n.774T>A | |
| 22 | g.50627249G>A | CA412180691 | ARSA | c.382C>T (p.Leu128Phe) c.124C>T (p.Leu42Phe) n.773C>T | |
| 22 | g.50627249G>C | CA412180697 | ARSA | c.382C>G (p.Leu128Val) c.124C>G (p.Leu42Val) n.773C>G | |
| 22 | g.50627249G>T | CA412180696 | ARSA | c.382C>A (p.Leu128Ile) c.124C>A (p.Leu42Ile) n.773C>A | |
| 22 | g.50627250G>A | CA515391480 | ARSA | c.381C>T (p.His127=) c.123C>T (p.His41=) n.772C>T | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627250G>C | CA412180700 | ARSA | c.381C>G (p.His127Gln) c.123C>G (p.His41Gln) n.772C>G | |
| 22 | g.50627250G= | CA2410959509 | ARSA | c.381C= (p.His127=) c.123C= (p.His41=) n.772C= | |
| 22 | g.50627250G>T | CA412180701 | ARSA | c.381C>A (p.His127Gln) c.123C>A (p.His41Gln) n.772C>A | |
| 22 | g.50627251T>A | CA412180704 | ARSA | c.380A>T (p.His127Leu) c.122A>T (p.His41Leu) n.771A>T | |
| 22 | g.50627251T>C | CA412180706 | ARSA | c.380A>G (p.His127Arg) c.122A>G (p.His41Arg) n.771A>G | |
| 22 | g.50627251T>G | CA412180707 | ARSA | c.380A>C (p.His127Pro) c.122A>C (p.His41Pro) n.771A>C | |
| 22 | g.50627252G>A | CA412180708 | ARSA | c.379C>T (p.His127Tyr) c.121C>T (p.His41Tyr) n.770C>T | |
| 22 | g.50627252G>C | CA412180709 | ARSA | c.379C>G (p.His127Asp) c.121C>G (p.His41Asp) n.770C>G | |
| 22 | g.50627252G>T | CA412180712 | ARSA | c.379C>A (p.His127Asn) c.121C>A (p.His41Asn) n.770C>A | |
| 22 | g.50627253C>A | CA412180715 | ARSA | c.378G>T (p.Trp126Cys) c.120G>T (p.Trp40Cys) n.769G>T | |
| 22 | g.50627253C= | CA2410959510 | ARSA | c.378G= (p.Trp126=) c.120G= (p.Trp40=) n.769G= | |
| 22 | g.50627253C>G | CA412180718 | ARSA | c.378G>C (p.Trp126Cys) c.120G>C (p.Trp40Cys) n.769G>C | |
| 22 | g.50627253C>T | CA412180720 | ARSA | c.378G>A (p.Trp126Ter) c.120G>A (p.Trp40Ter) n.769G>A | ClinVar dbSNP gnomAD v4 |
| 22 | g.50627254C>A | CA412180729 | ARSA | c.377G>T (p.Trp126Leu) c.119G>T (p.Trp40Leu) n.768G>T | |
| 22 | g.50627254C>G | CA412180733 | ARSA | c.377G>C (p.Trp126Ser) c.119G>C (p.Trp40Ser) n.768G>C | |
| 22 | g.50627254C>T | CA412180722 | ARSA | c.377G>A (p.Trp126Ter) c.119G>A (p.Trp40Ter) n.768G>A | |
| 22 | g.50627255A= | CA2410959511 | ARSA | c.376T= (p.Trp126=) c.118T= (p.Trp40=) n.767T= | |
| 22 | g.50627255A>C | CA412180738 | ARSA | c.376T>G (p.Trp126Gly) c.118T>G (p.Trp40Gly) n.767T>G | dbSNP |
| 22 | g.50627255A>G | CA412180736 | ARSA | c.376T>C (p.Trp126Arg) c.118T>C (p.Trp40Arg) n.767T>C | |
| 22 | g.50627255A>T | CA412180737 | ARSA | c.376T>A (p.Trp126Arg) c.118T>A (p.Trp40Arg) n.767T>A | gnomAD v4 |
| 22 | g.50627256C>A | CA412180740 | ARSA | c.375G>T (p.Lys125Asn) c.117G>T (p.Lys39Asn) n.766G>T | |
| 22 | g.50627256C= | CA2410959513 | ARSA | c.375G= (p.Lys125=) c.117G= (p.Lys39=) n.766G= | |
| 22 | g.50627256C>G | CA412180743 | ARSA | c.375G>C (p.Lys125Asn) c.117G>C (p.Lys39Asn) n.766G>C | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50627256C>T | CA515391485 | ARSA | c.375G>A (p.Lys125=) c.117G>A (p.Lys39=) n.766G>A | |
| 22 | g.50627256_50627262delinsCTTGCCG | CA2410959512 | ARSA | c.369_375delinsCGGCAAG (p.Ala123=) c.111_117delinsCGGCAAG (p.Ala37=) n.760_766delinsCGGCAAG | |
| 22 | g.50627257T>A | CA412180753 | ARSA | c.374A>T (p.Lys125Met) c.116A>T (p.Lys39Met) n.765A>T | |
| 22 | g.50627257T>C | CA412180756 | ARSA | c.374A>G (p.Lys125Arg) c.116A>G (p.Lys39Arg) n.765A>G | |
| 22 | g.50627257T>G | CA412180758 | ARSA | c.374A>C (p.Lys125Thr) c.116A>C (p.Lys39Thr) n.765A>C | ClinVar |
| 22 | g.50627257_50627262delinsCCCAAGGTT | CA233479 | ARSA | c.369_374delinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly) c.111_116delinsAACCTTGGG (p.Gly38_Lys39delinsThrLeuGly) n.760_765delinsAACCTTGGG | ClinVar dbSNP |
| 22 | g.50627258T>A | CA412180763 | ARSA | c.373A>T (p.Lys125Ter) c.115A>T (p.Lys39Ter) n.764A>T | |
| 22 | g.50627258T>C | CA412180767 | ARSA | c.373A>G (p.Lys125Glu) c.115A>G (p.Lys39Glu) n.764A>G | |
| 22 | g.50627258T>G | CA412180770 | ARSA | c.373A>C (p.Lys125Gln) c.115A>C (p.Lys39Gln) n.764A>C | |
| 22 | g.50627259G>A | CA515391487 | ARSA | c.372C>T (p.Gly124=) c.114C>T (p.Gly38=) n.763C>T | |
| 22 | g.50627259G>C | CA515391488 | ARSA | c.372C>G (p.Gly124=) c.114C>G (p.Gly38=) n.763C>G | |
| 22 | g.50627259G>T | CA515391489 | ARSA | c.372C>A (p.Gly124=) c.114C>A (p.Gly38=) n.763C>A | gnomAD v4 |
| 22 | g.50627260C>A | CA412180780 | ARSA | c.371G>T (p.Gly124Val) c.113G>T (p.Gly38Val) n.762G>T | |
| 22 | g.50627260C= | CA2410959514 | ARSA | c.371G= (p.Gly124=) c.113G= (p.Gly38=) n.762G= | |
| 22 | g.50627260C>G | CA412180775 | ARSA | c.371G>C (p.Gly124Ala) c.113G>C (p.Gly38Ala) n.762G>C | |
| 22 | g.50627260C>T | CA412180773 | ARSA | c.371G>A (p.Gly124Asp) c.113G>A (p.Gly38Asp) n.762G>A | ClinVar dbSNP gnomAD v4 |
| 22 | g.50627261C>A | CA325531581 | ARSA | c.370G>T (p.Gly124Cys) c.112G>T (p.Gly38Cys) n.761G>T | ClinVar dbSNP gnomAD v4 |
| 22 | g.50627261C= | CA2410959515 | ARSA | c.370G= (p.Gly124=) c.112G= (p.Gly38=) n.761G= | |
| 22 | g.50627261C>G | CA412180784 | ARSA | c.370G>C (p.Gly124Arg) c.112G>C (p.Gly38Arg) n.761G>C | dbSNP gnomAD v4 |
| 22 | g.50627261C>T | CA220987 | ARSA | c.370G>A (p.Gly124Ser) c.112G>A (p.Gly38Ser) n.761G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627261_50627262delinsCG | CA2410959516 | ARSA | c.369_370delinsCG (p.Ala123=) c.111_112delinsCG (p.Ala37=) n.760_761delinsCG | |
| 22 | g.50627262G>A | CA10653701 | ARSA | c.369C>T (p.Ala123=) c.111C>T (p.Ala37=) n.760C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627262G>C | CA515391492 | ARSA | c.369C>G (p.Ala123=) c.111C>G (p.Ala37=) n.760C>G | |
| 22 | g.50627262G= | CA2410959517 | ARSA | c.369C= (p.Ala123=) c.111C= (p.Ala37=) n.760C= | |
| 22 | g.50627262G>T | CA515391494 | ARSA | c.369C>A (p.Ala123=) c.111C>A (p.Ala37=) n.760C>A | |
| 22 | g.50627263del | CA1026681316 | ARSA | c.369del (p.Gly124AlafsTer24) c.111del (p.Gly38AlafsTer24) n.760del | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50627263G>A | CA412180790 | ARSA | c.368C>T (p.Ala123Val) c.110C>T (p.Ala37Val) n.759C>T | gnomAD v4 |
| 22 | g.50627263G>C | CA412180800 | ARSA | c.368C>G (p.Ala123Gly) c.110C>G (p.Ala37Gly) n.759C>G | |
| 22 | g.50627263G>T | CA412180802 | ARSA | c.368C>A (p.Ala123Asp) c.110C>A (p.Ala37Asp) n.759C>A | |
| 22 | g.50627264C>A | CA412180805 | ARSA | c.367G>T (p.Ala123Ser) c.109G>T (p.Ala37Ser) n.758G>T | gnomAD v4 |
| 22 | g.50627264C= | CA2410959518 | ARSA | c.367G= (p.Ala123=) c.109G= (p.Ala37=) n.758G= | |
| 22 | g.50627264C>G | CA412180806 | ARSA | c.367G>C (p.Ala123Pro) c.109G>C (p.Ala37Pro) n.758G>C | gnomAD v4 |
| 22 | g.50627264C>T | CA412180809 | ARSA | c.367G>A (p.Ala123Thr) c.109G>A (p.Ala37Thr) n.758G>A | dbSNP |
| 22 | g.50627265C>A | CA412180810 | ARSA | c.366G>T (p.Met122Ile) c.108G>T (p.Met36Ile) n.757G>T | |
| 22 | g.50627265C>G | CA412180811 | ARSA | c.366G>C (p.Met122Ile) c.108G>C (p.Met36Ile) n.757G>C | |
| 22 | g.50627265C>T | CA412180812 | ARSA | c.366G>A (p.Met122Ile) c.108G>A (p.Met36Ile) n.757G>A | |
| 22 | g.50627266A>C | CA412180816 | ARSA | c.365T>G (p.Met122Arg) c.107T>G (p.Met36Arg) n.756T>G | |
| 22 | g.50627266A>G | CA412180819 | ARSA | c.365T>C (p.Met122Thr) c.107T>C (p.Met36Thr) n.756T>C | ClinVar dbSNP |
| 22 | g.50627266A>T | CA412180815 | ARSA | c.365T>A (p.Met122Lys) c.107T>A (p.Met36Lys) n.756T>A | |
| 22 | g.50627267T>A | CA412180821 | ARSA | c.364A>T (p.Met122Leu) c.106A>T (p.Met36Leu) n.755A>T | |
| 22 | g.50627267T>C | CA412180824 | ARSA | c.364A>G (p.Met122Val) c.106A>G (p.Met36Val) n.755A>G | |
| 22 | g.50627267T>G | CA412180833 | ARSA | c.364A>C (p.Met122Leu) c.106A>C (p.Met36Leu) n.755A>C | |
| 22 | g.50627268T>A | CA515391499 | ARSA | c.363A>T (p.Gly121=) c.105A>T (p.Gly35=) n.754A>T | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627268T>C | CA10325044 | ARSA | c.363A>G (p.Gly121=) c.105A>G (p.Gly35=) n.754A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627268T>G | CA515391500 | ARSA | c.363A>C (p.Gly121=) c.105A>C (p.Gly35=) n.754A>C | dbSNP |
| 22 | g.50627268T= | CA2410959519 | ARSA | c.363A= (p.Gly121=) c.105A= (p.Gly35=) n.754A= | |
| 22 | g.50627269C>A | CA412180843 | ARSA | c.362G>T (p.Gly121Val) c.104G>T (p.Gly35Val) n.753G>T | gnomAD v4 |
| 22 | g.50627269C>G | CA412180848 | ARSA | c.362G>C (p.Gly121Ala) c.104G>C (p.Gly35Ala) n.753G>C | |
| 22 | g.50627269C>T | CA412180850 | ARSA | c.362G>A (p.Gly121Glu) c.104G>A (p.Gly35Glu) n.753G>A | ClinVar |
| 22 | g.50627270C>A | CA412180855 | ARSA | c.361G>T (p.Gly121Ter) c.103G>T (p.Gly35Ter) n.752G>T | |
| 22 | g.50627270C= | CA2410959520 | ARSA | c.361G= (p.Gly121=) c.103G= (p.Gly35=) n.752G= | |
| 22 | g.50627270C>G | CA412180857 | ARSA | c.361G>C (p.Gly121Arg) c.103G>C (p.Gly35Arg) n.752G>C | gnomAD v4 |
| 22 | g.50627270C>T | CA219016 | ARSA | c.361G>A (p.Gly121Arg) c.103G>A (p.Gly35Arg) n.752G>A | ClinVar dbSNP |
| 22 | g.50627271T>A | CA515391503 | ARSA | c.360A>T (p.Thr120=) c.102A>T (p.Thr34=) n.751A>T | |
| 22 | g.50627271T>C | CA515391504 | ARSA | c.360A>G (p.Thr120=) c.102A>G (p.Thr34=) n.751A>G | gnomAD v4 |
| 22 | g.50627271T>G | CA515391505 | ARSA | c.360A>C (p.Thr120=) c.102A>C (p.Thr34=) n.751A>C | |
| 22 | g.50627272G>A | CA412180860 | ARSA | c.359C>T (p.Thr120Ile) c.101C>T (p.Thr34Ile) n.750C>T | gnomAD v4 |
| 22 | g.50627272G>C | CA412180868 | ARSA | c.359C>G (p.Thr120Arg) c.101C>G (p.Thr34Arg) n.750C>G | |
| 22 | g.50627272G>T | CA412180870 | ARSA | c.359C>A (p.Thr120Lys) c.101C>A (p.Thr34Lys) n.750C>A | |
| 22 | g.50627273T>A | CA412180878 | ARSA | c.358A>T (p.Thr120Ser) c.100A>T (p.Thr34Ser) n.749A>T | |
| 22 | g.50627273T>C | CA412180880 | ARSA | c.358A>G (p.Thr120Ala) c.100A>G (p.Thr34Ala) n.749A>G | |
| 22 | g.50627273T>G | CA412180875 | ARSA | c.358A>C (p.Thr120Pro) c.100A>C (p.Thr34Pro) n.749A>C | gnomAD v4 |
| 22 | g.50627274G>A | CA515391507 | ARSA | c.357C>T (p.Leu119=) c.99C>T (p.Leu33=) n.748C>T | |
| 22 | g.50627274G>C | CA10325045 | ARSA | c.357C>G (p.Leu119=) c.99C>G (p.Leu33=) n.748C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627274G= | CA2410959521 | ARSA | c.357C= (p.Leu119=) c.99C= (p.Leu33=) n.748C= | |
| 22 | g.50627274G>T | CA515391508 | ARSA | c.357C>A (p.Leu119=) c.99C>A (p.Leu33=) n.748C>A | |
| 22 | g.50627275A>C | CA412180889 | ARSA | c.356T>G (p.Leu119Arg) c.98T>G (p.Leu33Arg) n.747T>G | |
| 22 | g.50627275A>G | CA412180893 | ARSA | c.356T>C (p.Leu119Pro) c.98T>C (p.Leu33Pro) n.747T>C | |
| 22 | g.50627275A>T | CA412180896 | ARSA | c.356T>A (p.Leu119His) c.98T>A (p.Leu33His) n.747T>A | |
| 22 | g.50627275_50627284delinsAGGTAGCCTC | CA2410959522 | ARSA | c.347_356delinsGAGGCTACCT (p.Arg116=) c.89_98delinsGAGGCTACCT (p.Arg30=) n.738_747delinsGAGGCTACCT | |
| 22 | g.50627276G>A | CA412180900 | ARSA | c.355C>T (p.Leu119Phe) c.97C>T (p.Leu33Phe) n.746C>T | |
| 22 | g.50627276G>C | CA412180909 | ARSA | c.355C>G (p.Leu119Val) c.97C>G (p.Leu33Val) n.746C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50627276G= | CA2410959523 | ARSA | c.355C= (p.Leu119=) c.97C= (p.Leu33=) n.746C= | |
| 22 | g.50627276G>T | CA412180911 | ARSA | c.355C>A (p.Leu119Ile) c.97C>A (p.Leu33Ile) n.746C>A | |
| 22 | g.50627277del | CA2657593857 | ARSA | c.355del (p.Leu119SerfsTer29) c.97del (p.Leu33SerfsTer29) n.746del | gnomAD v4 |
| 22 | g.50627278_50627286del | CA754070388 | ARSA | c.347_355del (p.Arg116_Tyr118del) c.89_97del (p.Arg30_Tyr32del) n.738_746del | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50627277G>A | CA515391510 | ARSA | c.354C>T (p.Tyr118=) c.96C>T (p.Tyr32=) n.745C>T | gnomAD v4 |
| 22 | g.50627277G>C | CA412180913 | ARSA | c.354C>G (p.Tyr118Ter) c.96C>G (p.Tyr32Ter) n.745C>G | |
| 22 | g.50627277G>T | CA412180914 | ARSA | c.354C>A (p.Tyr118Ter) c.96C>A (p.Tyr32Ter) n.745C>A | |
| 22 | g.50627278T>A | CA412180916 | ARSA | c.353A>T (p.Tyr118Phe) c.95A>T (p.Tyr32Phe) n.744A>T | |
| 22 | g.50627278T>C | CA412180922 | ARSA | c.353A>G (p.Tyr118Cys) c.95A>G (p.Tyr32Cys) n.744A>G | |
| 22 | g.50627278T>G | CA412180926 | ARSA | c.353A>C (p.Tyr118Ser) c.95A>C (p.Tyr32Ser) n.744A>C | |
| 22 | g.50627279A= | CA2410959524 | ARSA | c.352T= (p.Tyr118=) c.94T= (p.Tyr32=) n.743T= | |
| 22 | g.50627279A>C | CA412180930 | ARSA | c.352T>G (p.Tyr118Asp) c.94T>G (p.Tyr32Asp) n.743T>G | |
| 22 | g.50627279A>G | CA412180933 | ARSA | c.352T>C (p.Tyr118His) c.94T>C (p.Tyr32His) n.743T>C | dbSNP |
| 22 | g.50627279A>T | CA412180938 | ARSA | c.352T>A (p.Tyr118Asn) c.94T>A (p.Tyr32Asn) n.743T>A | |
| 22 | g.50627280G>A | CA515391512 | ARSA | c.351C>T (p.Gly117=) c.93C>T (p.Gly31=) n.742C>T | |
| 22 | g.50627280G>C | CA515391513 | ARSA | c.351C>G (p.Gly117=) c.93C>G (p.Gly31=) n.742C>G | |
| 22 | g.50627280G>T | CA515391514 | ARSA | c.351C>A (p.Gly117=) c.93C>A (p.Gly31=) n.742C>A | gnomAD v4 |
| 22 | g.50627281C>A | CA412180944 | ARSA | c.350G>T (p.Gly117Val) c.92G>T (p.Gly31Val) n.741G>T | gnomAD v4 |
| 22 | g.50627281C= | CA2410959525 | ARSA | c.350G= (p.Gly117=) c.92G= (p.Gly31=) n.741G= | |
| 22 | g.50627281C>G | CA412180945 | ARSA | c.350G>C (p.Gly117Ala) c.92G>C (p.Gly31Ala) n.741G>C | |
| 22 | g.50627281C>T | CA412180941 | ARSA | c.350G>A (p.Gly117Asp) c.92G>A (p.Gly31Asp) n.741G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627281_50627282dup | CA2739268050 | ARSA | c.349_350dup (p.Tyr118AlafsTer?) c.91_92dup (p.Tyr32AlafsTer?) n.740_741dup | ClinVar |
| 22 | g.50627282C>A | CA412180946 | ARSA | c.349G>T (p.Gly117Cys) c.91G>T (p.Gly31Cys) n.740G>T | |
| 22 | g.50627282C>G | CA412180947 | ARSA | c.349G>C (p.Gly117Arg) c.91G>C (p.Gly31Arg) n.740G>C | ClinVar gnomAD v4 |
| 22 | g.50627282C>T | CA412180950 | ARSA | c.349G>A (p.Gly117Ser) c.91G>A (p.Gly31Ser) n.740G>A | ClinVar dbSNP |
| 22 | g.50627283T>A | CA515391517 | ARSA | c.348A>T (p.Arg116=) c.90A>T (p.Arg30=) n.739A>T | |
| 22 | g.50627283T>C | CA515391515 | ARSA | c.348A>G (p.Arg116=) c.90A>G (p.Arg30=) n.739A>G | |
| 22 | g.50627283T>G | CA515391516 | ARSA | c.348A>C (p.Arg116=) c.90A>C (p.Arg30=) n.739A>C | |
| 22 | g.50627284C>A | CA412180953 | ARSA | c.347G>T (p.Arg116Leu) c.89G>T (p.Arg30Leu) n.738G>T | |
| 22 | g.50627284C= | CA2410959526 | ARSA | c.347G= (p.Arg116=) c.89G= (p.Arg30=) n.738G= | |
| 22 | g.50627284C>G | CA412180958 | ARSA | c.347G>C (p.Arg116Pro) c.89G>C (p.Arg30Pro) n.738G>C | gnomAD v4 |
| 22 | g.50627284C>T | CA10325046 | ARSA | c.347G>A (p.Arg116Gln) c.89G>A (p.Arg30Gln) n.738G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627285G>A | CA10603751 | ARSA | c.346C>T (p.Arg116Ter) c.88C>T (p.Arg30Ter) n.737C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627285G>C | CA10325047 | ARSA | c.346C>G (p.Arg116Gly) c.88C>G (p.Arg30Gly) n.737C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627285G= | CA2410959527 | ARSA | c.346C= (p.Arg116=) c.88C= (p.Arg30=) n.737C= | |
| 22 | g.50627285G>T | CA515391521 | ARSA | c.346C>A (p.Arg116=) c.88C>A (p.Arg30=) n.737C>A | gnomAD v4 |