UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.3770676C>A | CA304416607 | RAX2 | c.500G>T (p.Arg167Leu) c.638G>T (p.Arg213Leu) | dbSNP gnomAD v4 |
| 19 | g.3770676C= | CA2319043605 | RAX2 | c.500G= (p.Arg167=) c.638G= (p.Arg213=) | |
| 19 | g.3770676C>G | CA403374091 | RAX2 | c.500G>C (p.Arg167Pro) c.638G>C (p.Arg213Pro) | dbSNP |
| 19 | g.3770676C>T | CA9085029 | RAX2 | c.500G>A (p.Arg167Gln) c.638G>A (p.Arg213Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770677G>A | CA304416611 | RAX2 | c.499C>T (p.Arg167Trp) c.637C>T (p.Arg213Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770677G>C | CA403374096 | RAX2 | c.499C>G (p.Arg167Gly) c.637C>G (p.Arg213Gly) | |
| 19 | g.3770677G= | CA2319043606 | RAX2 | c.499C= (p.Arg167=) c.637C= (p.Arg213=) | |
| 19 | g.3770677G>T | CA304416614 | RAX2 | c.499C>A (p.Arg167=) c.637C>A (p.Arg213=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770678C>A | CA505157982 | RAX2 | c.498G>T (p.Leu166=) c.636G>T (p.Leu212=) | gnomAD v4 |
| 19 | g.3770678C>G | CA505157983 | RAX2 | c.498G>C (p.Leu166=) c.636G>C (p.Leu212=) | |
| 19 | g.3770678C>T | CA505157984 | RAX2 | c.498G>A (p.Leu166=) c.636G>A (p.Leu212=) | gnomAD v4 |
| 19 | g.3770679A>C | CA403374099 | RAX2 | c.497T>G (p.Leu166Arg) c.635T>G (p.Leu212Arg) | |
| 19 | g.3770679A>G | CA403374101 | RAX2 | c.497T>C (p.Leu166Pro) c.635T>C (p.Leu212Pro) | gnomAD v4 |
| 19 | g.3770679A>T | CA403374104 | RAX2 | c.497T>A (p.Leu166Gln) c.635T>A (p.Leu212Gln) | |
| 19 | g.3770680G>A | CA505157988 | RAX2 | c.496C>T (p.Leu166=) c.634C>T (p.Leu212=) | gnomAD v4 |
| 19 | g.3770680G>C | CA403374106 | RAX2 | c.496C>G (p.Leu166Val) c.634C>G (p.Leu212Val) | |
| 19 | g.3770680G>T | CA403374108 | RAX2 | c.496C>A (p.Leu166Met) c.634C>A (p.Leu212Met) | gnomAD v4 |
| 19 | g.3770682del | CA2584525860 | RAX2 | c.496del (p.Leu166CysfsTer?) c.634del (p.Leu212CysfsTer?) | gnomAD v4 |
| 19 | g.3770681G>A | CA505157992 | RAX2 | c.495C>T (p.Ser165=) c.633C>T (p.Ser211=) | dbSNP |
| 19 | g.3770681G>C | CA505157993 | RAX2 | c.495C>G (p.Ser165=) c.633C>G (p.Ser211=) | |
| 19 | g.3770681G= | CA2319043607 | RAX2 | c.495C= (p.Ser165=) c.633C= (p.Ser211=) | |
| 19 | g.3770681G>T | CA505157995 | RAX2 | c.495C>A (p.Ser165=) c.633C>A (p.Ser211=) | gnomAD v4 |
| 19 | g.3770682G>A | CA403374110 | RAX2 | c.494C>T (p.Ser165Phe) c.632C>T (p.Ser211Phe) | gnomAD v4 |
| 19 | g.3770682G>C | CA403374112 | RAX2 | c.494C>G (p.Ser165Cys) c.632C>G (p.Ser211Cys) | |
| 19 | g.3770682G= | CA2319043608 | RAX2 | c.494C= (p.Ser165=) c.632C= (p.Ser211=) | |
| 19 | g.3770682G>T | CA304416617 | RAX2 | c.494C>A (p.Ser165Tyr) c.632C>A (p.Ser211Tyr) | dbSNP gnomAD v4 |
| 19 | g.3770683A>C | CA403374120 | RAX2 | c.493T>G (p.Ser165Ala) c.631T>G (p.Ser211Ala) | |
| 19 | g.3770683A>G | CA403374117 | RAX2 | c.493T>C (p.Ser165Pro) c.631T>C (p.Ser211Pro) | gnomAD v4 |
| 19 | g.3770683A>T | CA403374119 | RAX2 | c.493T>A (p.Ser165Thr) c.631T>A (p.Ser211Thr) | gnomAD v4 |
| 19 | g.3770684C>A | CA505158001 | RAX2 | c.492G>T (p.Ala164=) c.630G>T (p.Ala210=) | gnomAD v4 |
| 19 | g.3770684C= | CA2319043609 | RAX2 | c.492G= (p.Ala164=) c.630G= (p.Ala210=) | |
| 19 | g.3770684C>G | CA505158002 | RAX2 | c.492G>C (p.Ala164=) c.630G>C (p.Ala210=) | |
| 19 | g.3770684C>T | CA304416618 | RAX2 | c.492G>A (p.Ala164=) c.630G>A (p.Ala210=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770685G>A | CA9085030 | RAX2 | c.491C>T (p.Ala164Val) c.629C>T (p.Ala210Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.3770685G>C | CA403374124 | RAX2 | c.491C>G (p.Ala164Gly) c.629C>G (p.Ala210Gly) | |
| 19 | g.3770685G= | CA2319043610 | RAX2 | c.491C= (p.Ala164=) c.629C= (p.Ala210=) | |
| 19 | g.3770685G>T | CA9085031 | RAX2 | c.491C>A (p.Ala164Glu) c.629C>A (p.Ala210Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.3770686C>A | CA403374128 | RAX2 | c.490G>T (p.Ala164Ser) c.628G>T (p.Ala210Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.3770686C= | CA2319043611 | RAX2 | c.490G= (p.Ala164=) c.628G= (p.Ala210=) | |
| 19 | g.3770686C>G | CA403374131 | RAX2 | c.490G>C (p.Ala164Pro) c.628G>C (p.Ala210Pro) | |
| 19 | g.3770686C>T | CA403374132 | RAX2 | c.490G>A (p.Ala164Thr) c.628G>A (p.Ala210Thr) | gnomAD v4 |
| 19 | g.3770687C>A | CA403374135 | RAX2 | c.489G>T (p.Glu163Asp) c.627G>T (p.Glu209Asp) | gnomAD v4 |
| 19 | g.3770687C>G | CA403374137 | RAX2 | c.489G>C (p.Glu163Asp) c.627G>C (p.Glu209Asp) | gnomAD v4 |
| 19 | g.3770687C>T | CA505158010 | RAX2 | c.489G>A (p.Glu163=) c.627G>A (p.Glu209=) | |
| 19 | g.3770688T>A | CA403374139 | RAX2 | c.488A>T (p.Glu163Val) c.626A>T (p.Glu209Val) | gnomAD v4 |
| 19 | g.3770688T>C | CA403374140 | RAX2 | c.488A>G (p.Glu163Gly) c.626A>G (p.Glu209Gly) | gnomAD v4 |
| 19 | g.3770688T>G | CA403374141 | RAX2 | c.488A>C (p.Glu163Ala) c.626A>C (p.Glu209Ala) | |
| 19 | g.3770689C>A | CA403374143 | RAX2 | c.487G>T (p.Glu163Ter) c.625G>T (p.Glu209Ter) | gnomAD v4 |
| 19 | g.3770689C= | CA2319043612 | RAX2 | c.487G= (p.Glu163=) c.625G= (p.Glu209=) | |
| 19 | g.3770689C>G | CA403374145 | RAX2 | c.487G>C (p.Glu163Gln) c.625G>C (p.Glu209Gln) | gnomAD v4 |
| 19 | g.3770689C>T | CA304416619 | RAX2 | c.487G>A (p.Glu163Lys) c.625G>A (p.Glu209Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.3770690C>A | CA403374148 | RAX2 | c.486G>T (p.Glu162Asp) c.624G>T (p.Glu208Asp) | gnomAD v4 |
| 19 | g.3770690C>G | CA403374151 | RAX2 | c.486G>C (p.Glu162Asp) c.624G>C (p.Glu208Asp) | |
| 19 | g.3770690C>T | CA505158015 | RAX2 | c.486G>A (p.Glu162=) c.624G>A (p.Glu208=) | gnomAD v4 |
| 19 | g.3770691T>A | CA403374152 | RAX2 | c.485A>T (p.Glu162Val) c.623A>T (p.Glu208Val) | |
| 19 | g.3770691T>C | CA403374153 | RAX2 | c.485A>G (p.Glu162Gly) c.623A>G (p.Glu208Gly) | gnomAD v4 |
| 19 | g.3770691T>G | CA403374154 | RAX2 | c.485A>C (p.Glu162Ala) c.623A>C (p.Glu208Ala) | |
| 19 | g.3770692C>A | CA403374156 | RAX2 | c.484G>T (p.Glu162Ter) c.622G>T (p.Glu208Ter) | gnomAD v4 |
| 19 | g.3770692C>G | CA403374157 | RAX2 | c.484G>C (p.Glu162Gln) c.622G>C (p.Glu208Gln) | |
| 19 | g.3770692C>T | CA403374160 | RAX2 | c.484G>A (p.Glu162Lys) c.622G>A (p.Glu208Lys) | gnomAD v4 |
| 19 | g.3770693C>A | CA505158018 | RAX2 | c.483G>T (p.Leu161=) c.621G>T (p.Leu207=) | |
| 19 | g.3770693C>G | CA505158019 | RAX2 | c.483G>C (p.Leu161=) c.621G>C (p.Leu207=) | |
| 19 | g.3770693C>T | CA505158021 | RAX2 | c.483G>A (p.Leu161=) c.621G>A (p.Leu207=) | gnomAD v4 |
| 19 | g.3770694A>C | CA403374162 | RAX2 | c.482T>G (p.Leu161Arg) c.620T>G (p.Leu207Arg) | |
| 19 | g.3770694A>G | CA403374164 | RAX2 | c.482T>C (p.Leu161Pro) c.620T>C (p.Leu207Pro) | gnomAD v4 |
| 19 | g.3770694A>T | CA403374165 | RAX2 | c.482T>A (p.Leu161Gln) c.620T>A (p.Leu207Gln) | |
| 19 | g.3770695G>A | CA505158023 | RAX2 | c.481C>T (p.Leu161=) c.619C>T (p.Leu207=) | gnomAD v4 |
| 19 | g.3770695G>C | CA403374168 | RAX2 | c.481C>G (p.Leu161Val) c.619C>G (p.Leu207Val) | |
| 19 | g.3770695G>T | CA403374170 | RAX2 | c.481C>A (p.Leu161Met) c.619C>A (p.Leu207Met) | gnomAD v4 |
| 19 | g.3770696G>A | CA505158025 | RAX2 | c.480C>T (p.Ala160=) c.618C>T (p.Ala206=) | |
| 19 | g.3770696G>C | CA304416621 | RAX2 | c.480C>G (p.Ala160=) c.618C>G (p.Ala206=) | dbSNP |
| 19 | g.3770696G= | CA2319043613 | RAX2 | c.480C= (p.Ala160=) c.618C= (p.Ala206=) | |
| 19 | g.3770696G>T | CA505158026 | RAX2 | c.480C>A (p.Ala160=) c.618C>A (p.Ala206=) | gnomAD v4 |
| 19 | g.3770697G>A | CA304416632 | RAX2 | c.479C>T (p.Ala160Val) c.617C>T (p.Ala206Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770697G>C | CA403374177 | RAX2 | c.479C>G (p.Ala160Gly) c.617C>G (p.Ala206Gly) | |
| 19 | g.3770697G= | CA2319043614 | RAX2 | c.479C= (p.Ala160=) c.617C= (p.Ala206=) | |
| 19 | g.3770697G>T | CA403374175 | RAX2 | c.479C>A (p.Ala160Asp) c.617C>A (p.Ala206Asp) | gnomAD v4 |
| 19 | g.3770698C>A | CA403374180 | RAX2 | c.478G>T (p.Ala160Ser) c.616G>T (p.Ala206Ser) | gnomAD v4 |
| 19 | g.3770698C= | CA2319043615 | RAX2 | c.478G= (p.Ala160=) c.616G= (p.Ala206=) | |
| 19 | g.3770698C>G | CA403374181 | RAX2 | c.478G>C (p.Ala160Pro) c.616G>C (p.Ala206Pro) | |
| 19 | g.3770698C>T | CA9085032 | RAX2 | c.478G>A (p.Ala160Thr) c.616G>A (p.Ala206Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770699G>A | CA9085033 | RAX2 | c.477C>T (p.Phe159=) c.615C>T (p.Phe205=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770699G>C | CA403374184 | RAX2 | c.477C>G (p.Phe159Leu) c.615C>G (p.Phe205Leu) | |
| 19 | g.3770699G= | CA2319043616 | RAX2 | c.477C= (p.Phe159=) c.615C= (p.Phe205=) | |
| 19 | g.3770699G>T | CA403374187 | RAX2 | c.477C>A (p.Phe159Leu) c.615C>A (p.Phe205Leu) | gnomAD v4 |
| 19 | g.3770700A= | CA2319043618 | RAX2 | c.476T= (p.Phe159=) c.614T= (p.Phe205=) | |
| 19 | g.3770700A>C | CA403374190 | RAX2 | c.476T>G (p.Phe159Cys) c.614T>G (p.Phe205Cys) | |
| 19 | g.3770700A>G | CA403374192 | RAX2 | c.476T>C (p.Phe159Ser) c.614T>C (p.Phe205Ser) | gnomAD v4 |
| 19 | g.3770700A>T | CA403374194 | RAX2 | c.476T>A (p.Phe159Tyr) c.614T>A (p.Phe205Tyr) | dbSNP |
| 19 | g.3770700_3770711delinsAAGCCATCTGCG | CA2319043617 | RAX2 | c.465_476delinsCGCAGATGGCTT (p.Phe155=) c.603_614delinsCGCAGATGGCTT (p.Phe201=) | |
| 19 | g.3770701A>C | CA403374197 | RAX2 | c.475T>G (p.Phe159Val) c.613T>G (p.Phe205Val) | |
| 19 | g.3770701A>G | CA403374199 | RAX2 | c.475T>C (p.Phe159Leu) c.613T>C (p.Phe205Leu) | |
| 19 | g.3770701A>T | CA403374201 | RAX2 | c.475T>A (p.Phe159Ile) c.613T>A (p.Phe205Ile) | gnomAD v4 |
| 19 | g.3770702_3770712del | CA10602391 | RAX2 | c.465_475del (p.Ala156ArgfsTer?) c.603_613del (p.Ala202ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
| 19 | g.3770702G>A | CA505158043 | RAX2 | c.474C>T (p.Gly158=) c.612C>T (p.Gly204=) | gnomAD v4 |
| 19 | g.3770702G>C | CA505158044 | RAX2 | c.474C>G (p.Gly158=) c.612C>G (p.Gly204=) | gnomAD v4 |
| 19 | g.3770702G>T | CA505158047 | RAX2 | c.474C>A (p.Gly158=) c.612C>A (p.Gly204=) | gnomAD v4 |
| 19 | g.3770702_3770703delinsGC | CA2319043619 | RAX2 | c.473_474delinsGC (p.Gly158=) c.611_612delinsGC (p.Gly204=) | |
| 19 | g.3770703C>A | CA403374215 | RAX2 | c.473G>T (p.Gly158Val) c.611G>T (p.Gly204Val) | gnomAD v4 |
| 19 | g.3770703C>G | CA403374212 | RAX2 | c.473G>C (p.Gly158Ala) c.611G>C (p.Gly204Ala) | |
| 19 | g.3770703C>T | CA403374205 | RAX2 | c.473G>A (p.Gly158Asp) c.611G>A (p.Gly204Asp) | gnomAD v4 COSMIC |
| 19 | g.3770704del | CA881963483 | RAX2 | c.473del (p.Gly158AlafsTer?) c.611del (p.Gly204AlafsTer?) | dbSNP |
| 19 | g.3770704C>A | CA403374220 | RAX2 | c.472G>T (p.Gly158Cys) c.610G>T (p.Gly204Cys) | gnomAD v4 |
| 19 | g.3770704C= | CA2319043620 | RAX2 | c.472G= (p.Gly158=) c.610G= (p.Gly204=) | |
| 19 | g.3770704C>G | CA403374217 | RAX2 | c.472G>C (p.Gly158Arg) c.610G>C (p.Gly204Arg) | |
| 19 | g.3770704C>T | CA403374218 | RAX2 | c.472G>A (p.Gly158Ser) c.610G>A (p.Gly204Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.3770705A>C | CA403374224 | RAX2 | c.471T>G (p.Asp157Glu) c.609T>G (p.Asp203Glu) | |
| 19 | g.3770705A>G | CA505158054 | RAX2 | c.471T>C (p.Asp157=) c.609T>C (p.Asp203=) | gnomAD v4 |
| 19 | g.3770705A>T | CA403374225 | RAX2 | c.471T>A (p.Asp157Glu) c.609T>A (p.Asp203Glu) | |
| 19 | g.3770706_3770712del | CA2584525861 | RAX2 | c.465_471del (p.Phe155LeufsTer?) c.603_609del (p.Phe201LeufsTer?) | gnomAD v4 |
| 19 | g.3770706T>A | CA403374227 | RAX2 | c.470A>T (p.Asp157Val) c.608A>T (p.Asp203Val) | |
| 19 | g.3770706T>C | CA403374228 | RAX2 | c.470A>G (p.Asp157Gly) c.608A>G (p.Asp203Gly) | gnomAD v4 |
| 19 | g.3770706T>G | CA403374230 | RAX2 | c.470A>C (p.Asp157Ala) c.608A>C (p.Asp203Ala) | |
| 19 | g.3770707C>A | CA403374234 | RAX2 | c.469G>T (p.Asp157Tyr) c.607G>T (p.Asp203Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.3770707C= | CA2319043621 | RAX2 | c.469G= (p.Asp157=) c.607G= (p.Asp203=) | |
| 19 | g.3770707C>G | CA403374237 | RAX2 | c.469G>C (p.Asp157His) c.607G>C (p.Asp203His) | |
| 19 | g.3770707C>T | CA403374238 | RAX2 | c.469G>A (p.Asp157Asn) c.607G>A (p.Asp203Asn) | gnomAD v4 |
| 19 | g.3770708T>A | CA505158060 | RAX2 | c.468A>T (p.Ala156=) c.606A>T (p.Ala202=) | gnomAD v4 |
| 19 | g.3770708T>C | CA505158058 | RAX2 | c.468A>G (p.Ala156=) c.606A>G (p.Ala202=) | gnomAD v4 |
| 19 | g.3770708T>G | CA505158059 | RAX2 | c.468A>C (p.Ala156=) c.606A>C (p.Ala202=) | dbSNP |
| 19 | g.3770708T= | CA2319043622 | RAX2 | c.468A= (p.Ala156=) c.606A= (p.Ala202=) | |
| 19 | g.3770709G>A | CA403374240 | RAX2 | c.467C>T (p.Ala156Val) c.605C>T (p.Ala202Val) | gnomAD v4 |
| 19 | g.3770709G>C | CA403374241 | RAX2 | c.467C>G (p.Ala156Gly) c.605C>G (p.Ala202Gly) | |
| 19 | g.3770709G>T | CA403374243 | RAX2 | c.467C>A (p.Ala156Glu) c.605C>A (p.Ala202Glu) | gnomAD v4 |
| 19 | g.3770710C>A | CA403374250 | RAX2 | c.466G>T (p.Ala156Ser) c.604G>T (p.Ala202Ser) | gnomAD v4 |
| 19 | g.3770710C= | CA2319043623 | RAX2 | c.466G= (p.Ala156=) c.604G= (p.Ala202=) | |
| 19 | g.3770710C>G | CA403374248 | RAX2 | c.466G>C (p.Ala156Pro) c.604G>C (p.Ala202Pro) | |
| 19 | g.3770710C>T | CA403374246 | RAX2 | c.466G>A (p.Ala156Thr) c.604G>A (p.Ala202Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770711G>A | CA304416647 | RAX2 | c.465C>T (p.Phe155=) c.603C>T (p.Phe201=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770711G>C | CA403374253 | RAX2 | c.465C>G (p.Phe155Leu) c.603C>G (p.Phe201Leu) | gnomAD v4 |
| 19 | g.3770711G= | CA2319043624 | RAX2 | c.465C= (p.Phe155=) c.603C= (p.Phe201=) | |
| 19 | g.3770711G>T | CA403374255 | RAX2 | c.465C>A (p.Phe155Leu) c.603C>A (p.Phe201Leu) | gnomAD v4 |
| 19 | g.3770712A= | CA2319043625 | RAX2 | c.464T= (p.Phe155=) c.602T= (p.Phe201=) | |
| 19 | g.3770712A>C | CA403374257 | RAX2 | c.464T>G (p.Phe155Cys) c.602T>G (p.Phe201Cys) | |
| 19 | g.3770712A>G | CA403374258 | RAX2 | c.464T>C (p.Phe155Ser) c.602T>C (p.Phe201Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770712A>T | CA403374259 | RAX2 | c.464T>A (p.Phe155Tyr) c.602T>A (p.Phe201Tyr) | |
| 19 | g.3770713del | CA2584525862 | RAX2 | c.464del (p.Phe155SerfsTer?) c.602del (p.Phe201SerfsTer?) | gnomAD v4 |
| 19 | g.3770713A>C | CA403374262 | RAX2 | c.463T>G (p.Phe155Val) c.601T>G (p.Phe201Val) | |
| 19 | g.3770713A>G | CA403374263 | RAX2 | c.463T>C (p.Phe155Leu) c.601T>C (p.Phe201Leu) | gnomAD v4 |
| 19 | g.3770713A>T | CA403374266 | RAX2 | c.463T>A (p.Phe155Ile) c.601T>A (p.Phe201Ile) | |
| 19 | g.3770714G>A | CA505158071 | RAX2 | c.462C>T (p.Thr154=) c.600C>T (p.Thr200=) | gnomAD v4 |
| 19 | g.3770714G>C | CA505158073 | RAX2 | c.462C>G (p.Thr154=) c.600C>G (p.Thr200=) | |
| 19 | g.3770714G>T | CA505158075 | RAX2 | c.462C>A (p.Thr154=) c.600C>A (p.Thr200=) | gnomAD v4 |
| 19 | g.3770715G>A | CA403374268 | RAX2 | c.461C>T (p.Thr154Ile) c.599C>T (p.Thr200Ile) | gnomAD v4 |
| 19 | g.3770715G>C | CA403374271 | RAX2 | c.461C>G (p.Thr154Ser) c.599C>G (p.Thr200Ser) | |
| 19 | g.3770715G= | CA2319043626 | RAX2 | c.461C= (p.Thr154=) c.599C= (p.Thr200=) | |
| 19 | g.3770715G>T | CA403374272 | RAX2 | c.461C>A (p.Thr154Asn) c.599C>A (p.Thr200Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.3770716T>A | CA403374275 | RAX2 | c.460A>T (p.Thr154Ser) c.598A>T (p.Thr200Ser) | |
| 19 | g.3770716T>C | CA403374276 | RAX2 | c.460A>G (p.Thr154Ala) c.598A>G (p.Thr200Ala) | gnomAD v4 |
| 19 | g.3770716T>G | CA403374278 | RAX2 | c.460A>C (p.Thr154Pro) c.598A>C (p.Thr200Pro) | |
| 19 | g.3770717G>A | CA505158078 | RAX2 | c.459C>T (p.Pro153=) c.597C>T (p.Pro199=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770717G>C | CA505158079 | RAX2 | c.459C>G (p.Pro153=) c.597C>G (p.Pro199=) | dbSNP |
| 19 | g.3770717G= | CA2319043628 | RAX2 | c.459C= (p.Pro153=) c.597C= (p.Pro199=) | |
| 19 | g.3770717G>T | CA505158080 | RAX2 | c.459C>A (p.Pro153=) c.597C>A (p.Pro199=) | gnomAD v4 |
| 19 | g.3770719del | CA2584525863 | RAX2 | c.459del (p.Thr154ProfsTer?) c.597del (p.Thr200ProfsTer?) | gnomAD v4 |
| 19 | g.3770718G>A | CA403374283 | RAX2 | c.458C>T (p.Pro153Leu) c.596C>T (p.Pro199Leu) | gnomAD v4 |
| 19 | g.3770718G>C | CA403374285 | RAX2 | c.458C>G (p.Pro153Arg) c.596C>G (p.Pro199Arg) | gnomAD v4 |
| 19 | g.3770718G>T | CA403374281 | RAX2 | c.458C>A (p.Pro153His) c.596C>A (p.Pro199His) | gnomAD v4 |
| 19 | g.3770719G>A | CA403374287 | RAX2 | c.457C>T (p.Pro153Ser) c.595C>T (p.Pro199Ser) | gnomAD v4 |
| 19 | g.3770719G>C | CA403374289 | RAX2 | c.457C>G (p.Pro153Ala) c.595C>G (p.Pro199Ala) | dbSNP |
| 19 | g.3770719G= | CA2319043629 | RAX2 | c.457C= (p.Pro153=) c.595C= (p.Pro199=) | |
| 19 | g.3770719G>T | CA403374291 | RAX2 | c.457C>A (p.Pro153Thr) c.595C>A (p.Pro199Thr) | gnomAD v4 |
| 19 | g.3770720A>C | CA505158088 | RAX2 | c.456T>G (p.Ala152=) c.594T>G (p.Ala198=) | gnomAD v4 |
| 19 | g.3770720A>G | CA505158089 | RAX2 | c.456T>C (p.Ala152=) c.594T>C (p.Ala198=) | |
| 19 | g.3770720A>T | CA505158090 | RAX2 | c.456T>A (p.Ala152=) c.594T>A (p.Ala198=) | |
| 19 | g.3770721G>A | CA9085034 | RAX2 | c.455C>T (p.Ala152Val) c.593C>T (p.Ala198Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.3770721G>C | CA403374294 | RAX2 | c.455C>G (p.Ala152Gly) c.593C>G (p.Ala198Gly) | |
| 19 | g.3770721G= | CA2319043631 | RAX2 | c.455C= (p.Ala152=) c.593C= (p.Ala198=) | |
| 19 | g.3770721G>T | CA403374297 | RAX2 | c.455C>A (p.Ala152Asp) c.593C>A (p.Ala198Asp) | gnomAD v4 |
| 19 | g.3770722C>A | CA403374303 | RAX2 | c.454G>T (p.Ala152Ser) c.592G>T (p.Ala198Ser) | gnomAD v4 |
| 19 | g.3770722C>G | CA403374299 | RAX2 | c.454G>C (p.Ala152Pro) c.592G>C (p.Ala198Pro) | |
| 19 | g.3770722C>T | CA403374302 | RAX2 | c.454G>A (p.Ala152Thr) c.592G>A (p.Ala198Thr) | gnomAD v4 |
| 19 | g.3770723A>C | CA403374305 | RAX2 | c.453T>G (p.Phe151Leu) c.591T>G (p.Phe197Leu) | |
| 19 | g.3770723A>G | CA505158095 | RAX2 | c.453T>C (p.Phe151=) c.591T>C (p.Phe197=) | gnomAD v4 |
| 19 | g.3770723A>T | CA403374307 | RAX2 | c.453T>A (p.Phe151Leu) c.591T>A (p.Phe197Leu) | |
| 19 | g.3770725del | CA2584525864 | RAX2 | c.453del (p.Phe151LeufsTer?) c.591del (p.Phe197LeufsTer?) | gnomAD v4 |
| 19 | g.3770724A>C | CA403374309 | RAX2 | c.452T>G (p.Phe151Cys) c.590T>G (p.Phe197Cys) | |
| 19 | g.3770724A>G | CA403374311 | RAX2 | c.452T>C (p.Phe151Ser) c.590T>C (p.Phe197Ser) | gnomAD v4 |
| 19 | g.3770724A>T | CA403374313 | RAX2 | c.452T>A (p.Phe151Tyr) c.590T>A (p.Phe197Tyr) | |
| 19 | g.3770725A>C | CA403374315 | RAX2 | c.451T>G (p.Phe151Val) c.589T>G (p.Phe197Val) | |
| 19 | g.3770725A>G | CA403374320 | RAX2 | c.451T>C (p.Phe151Leu) c.589T>C (p.Phe197Leu) | |
| 19 | g.3770725A>T | CA403374316 | RAX2 | c.451T>A (p.Phe151Ile) c.589T>A (p.Phe197Ile) | gnomAD v4 |
| 19 | g.3770726G>A | CA505158105 | RAX2 | c.450C>T (p.Ala150=) c.588C>T (p.Ala196=) | |
| 19 | g.3770726G>C | CA505158104 | RAX2 | c.450C>G (p.Ala150=) c.588C>G (p.Ala196=) | |
| 19 | g.3770726G>T | CA505158103 | RAX2 | c.450C>A (p.Ala150=) c.588C>A (p.Ala196=) | gnomAD v4 COSMIC |
| 19 | g.3770727G>A | CA403374326 | RAX2 | c.449C>T (p.Ala150Val) c.587C>T (p.Ala196Val) | gnomAD v4 |
| 19 | g.3770727G>C | CA403374328 | RAX2 | c.449C>G (p.Ala150Gly) c.587C>G (p.Ala196Gly) | |
| 19 | g.3770727G>T | CA403374330 | RAX2 | c.449C>A (p.Ala150Asp) c.587C>A (p.Ala196Asp) | gnomAD v4 |
| 19 | g.3770728C>A | CA403374332 | RAX2 | c.448G>T (p.Ala150Ser) c.586G>T (p.Ala196Ser) | gnomAD v4 |
| 19 | g.3770728C>G | CA403374334 | RAX2 | c.448G>C (p.Ala150Pro) c.586G>C (p.Ala196Pro) | |
| 19 | g.3770728C>T | CA403374336 | RAX2 | c.448G>A (p.Ala150Thr) c.586G>A (p.Ala196Thr) | gnomAD v4 |
| 19 | g.3770729A= | CA2319043633 | RAX2 | c.447T= (p.His149=) c.585T= (p.His195=) | |
| 19 | g.3770729A>C | CA403374339 | RAX2 | c.447T>G (p.His149Gln) c.585T>G (p.His195Gln) | dbSNP |
| 19 | g.3770729A>G | CA505158114 | RAX2 | c.447T>C (p.His149=) c.585T>C (p.His195=) | gnomAD v4 |
| 19 | g.3770729A>T | CA403374341 | RAX2 | c.447T>A (p.His149Gln) c.585T>A (p.His195Gln) | |
| 19 | g.3770729_3770733delinsATGAG | CA2319043632 | RAX2 | c.443_447delinsCTCAT (p.Pro148=) c.581_585delinsCTCAT (p.Pro194=) | |
| 19 | g.3770730T>A | CA403374342 | RAX2 | c.446A>T (p.His149Leu) c.584A>T (p.His195Leu) | gnomAD v4 |
| 19 | g.3770730T>C | CA403374343 | RAX2 | c.446A>G (p.His149Arg) c.584A>G (p.His195Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.3770730T>G | CA403374346 | RAX2 | c.446A>C (p.His149Pro) c.584A>C (p.His195Pro) | gnomAD v4 |
| 19 | g.3770730T= | CA2319043636 | RAX2 | c.446A= (p.His149=) c.584A= (p.His195=) | |
| 19 | g.3770730_3770733del | CA631712944 | RAX2 | c.443_446del (p.Pro148LeufsTer?) c.581_584del (p.Pro194LeufsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.3770732_3770749del | CA2584525865 | RAX2 | c.429_446del (p.Gln143_Pro148del) c.567_584del (p.Gln189_Pro194del) | gnomAD v4 |
| 19 | g.3770731G>A | CA403374351 | RAX2 | c.445C>T (p.His149Tyr) c.583C>T (p.His195Tyr) | gnomAD v4 |
| 19 | g.3770731G>C | CA403374352 | RAX2 | c.445C>G (p.His149Asp) c.583C>G (p.His195Asp) | |
| 19 | g.3770731G>T | CA403374349 | RAX2 | c.445C>A (p.His149Asn) c.583C>A (p.His195Asn) | gnomAD v4 |
| 19 | g.3770732A= | CA2319043639 | RAX2 | c.444T= (p.Pro148=) c.582T= (p.Pro194=) | |
| 19 | g.3770732A>C | CA505158122 | RAX2 | c.444T>G (p.Pro148=) c.582T>G (p.Pro194=) | |
| 19 | g.3770732A>G | CA505158123 | RAX2 | c.444T>C (p.Pro148=) c.582T>C (p.Pro194=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.3770732A>T | CA505158124 | RAX2 | c.444T>A (p.Pro148=) c.582T>A (p.Pro194=) | |
| 19 | g.3770733G>A | CA403374354 | RAX2 | c.443C>T (p.Pro148Leu) c.581C>T (p.Pro194Leu) | gnomAD v4 |
| 19 | g.3770733G>C | CA403374359 | RAX2 | c.443C>G (p.Pro148Arg) c.581C>G (p.Pro194Arg) | |
| 19 | g.3770733G>T | CA403374356 | RAX2 | c.443C>A (p.Pro148His) c.581C>A (p.Pro194His) | gnomAD v4 |
| 19 | g.3770734G>A | CA403374361 | RAX2 | c.442C>T (p.Pro148Ser) c.580C>T (p.Pro194Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.3770734G>C | CA403374366 | RAX2 | c.442C>G (p.Pro148Ala) c.580C>G (p.Pro194Ala) | |
| 19 | g.3770734G= | CA2319043641 | RAX2 | c.442C= (p.Pro148=) c.580C= (p.Pro194=) | |
| 19 | g.3770734G>T | CA403374364 | RAX2 | c.442C>A (p.Pro148Thr) c.580C>A (p.Pro194Thr) | gnomAD v4 |
| 19 | g.3770738_3770755del | CA2584525866 | RAX2 | c.425_442del (p.Leu142_Gly147del) c.563_580del (p.Leu188_Gly193del) | gnomAD v4 |
| 19 | g.3770735C>A | CA505158129 | RAX2 | c.441G>T (p.Gly147=) c.579G>T (p.Gly193=) | gnomAD v4 |
| 19 | g.3770735C= | CA2319043643 | RAX2 | c.441G= (p.Gly147=) c.579G= (p.Gly193=) | |
| 19 | g.3770735C>G | CA505158130 | RAX2 | c.441G>C (p.Gly147=) c.579G>C (p.Gly193=) | |
| 19 | g.3770735C>T | CA9085035 | RAX2 | c.441G>A (p.Gly147=) c.579G>A (p.Gly193=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.3770736C>A | CA403374372 | RAX2 | c.440G>T (p.Gly147Val) c.578G>T (p.Gly193Val) | gnomAD v4 |
| 19 | g.3770736C>G | CA403374373 | RAX2 | c.440G>C (p.Gly147Ala) c.578G>C (p.Gly193Ala) | |
| 19 | g.3770736C>T | CA403374375 | RAX2 | c.440G>A (p.Gly147Glu) c.578G>A (p.Gly193Glu) | |
| 19 | g.3770737C>A | CA403374376 | RAX2 | c.439G>T (p.Gly147Trp) c.577G>T (p.Gly193Trp) | gnomAD v4 |
| 19 | g.3770737C= | CA2319043644 | RAX2 | c.439G= (p.Gly147=) c.577G= (p.Gly193=) | |
| 19 | g.3770737C>G | CA403374378 | RAX2 | c.439G>C (p.Gly147Arg) c.577G>C (p.Gly193Arg) | dbSNP gnomAD v4 |
| 19 | g.3770737C>T | CA304416654 | RAX2 | c.439G>A (p.Gly147Arg) c.577G>A (p.Gly193Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770737_3770751delinsCGAAGGACGCTTGCA | CA2319043646 | RAX2 | c.425_439delinsTGCAAGCGTCCTTCG (p.Leu142=) c.563_577delinsTGCAAGCGTCCTTCG (p.Leu188=) | |
| 19 | g.3770738G>A | CA505158135 | RAX2 | c.438C>T (p.Phe146=) c.576C>T (p.Phe192=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770738G>C | CA403374381 | RAX2 | c.438C>G (p.Phe146Leu) c.576C>G (p.Phe192Leu) | |
| 19 | g.3770738G= | CA2319043649 | RAX2 | c.438C= (p.Phe146=) c.576C= (p.Phe192=) | |
| 19 | g.3770738G>T | CA403374384 | RAX2 | c.438C>A (p.Phe146Leu) c.576C>A (p.Phe192Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.3770739_3770752del | CA631712945 | RAX2 | c.425_438del (p.Leu142ArgfsTer?) c.563_576del (p.Leu188ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.3770739A= | CA2319043650 | RAX2 | c.437T= (p.Phe146=) c.575T= (p.Phe192=) | |
| 19 | g.3770739A>C | CA403374386 | RAX2 | c.437T>G (p.Phe146Cys) c.575T>G (p.Phe192Cys) | dbSNP gnomAD v4 |
| 19 | g.3770739A>G | CA403374387 | RAX2 | c.437T>C (p.Phe146Ser) c.575T>C (p.Phe192Ser) | |
| 19 | g.3770739A>T | CA403374389 | RAX2 | c.437T>A (p.Phe146Tyr) c.575T>A (p.Phe192Tyr) | |
| 19 | g.3770740A>C | CA403374397 | RAX2 | c.436T>G (p.Phe146Val) c.574T>G (p.Phe192Val) | |
| 19 | g.3770740A>G | CA403374393 | RAX2 | c.436T>C (p.Phe146Leu) c.574T>C (p.Phe192Leu) | |
| 19 | g.3770740A>T | CA403374394 | RAX2 | c.436T>A (p.Phe146Ile) c.574T>A (p.Phe192Ile) | |
| 19 | g.3770741G>A | CA505158140 | RAX2 | c.435C>T (p.Ser145=) c.573C>T (p.Ser191=) | gnomAD v4 |
| 19 | g.3770741G>C | CA505158141 | RAX2 | c.435C>G (p.Ser145=) c.573C>G (p.Ser191=) | |
| 19 | g.3770741G>T | CA505158142 | RAX2 | c.435C>A (p.Ser145=) c.573C>A (p.Ser191=) | gnomAD v4 |
| 19 | g.3770742G>A | CA403374398 | RAX2 | c.434C>T (p.Ser145Phe) c.572C>T (p.Ser191Phe) | gnomAD v4 |
| 19 | g.3770742G>C | CA403374400 | RAX2 | c.434C>G (p.Ser145Cys) c.572C>G (p.Ser191Cys) | |
| 19 | g.3770742G>T | CA403374402 | RAX2 | c.434C>A (p.Ser145Tyr) c.572C>A (p.Ser191Tyr) | gnomAD v4 |
| 19 | g.3770743A>C | CA403374405 | RAX2 | c.433T>G (p.Ser145Ala) c.571T>G (p.Ser191Ala) | |
| 19 | g.3770743A>G | CA403374408 | RAX2 | c.433T>C (p.Ser145Pro) c.571T>C (p.Ser191Pro) | gnomAD v4 |
| 19 | g.3770743A>T | CA403374410 | RAX2 | c.433T>A (p.Ser145Thr) c.571T>A (p.Ser191Thr) | |
| 19 | g.3770744C>A | CA505158148 | RAX2 | c.432G>T (p.Ala144=) c.570G>T (p.Ala190=) | gnomAD v4 |
| 19 | g.3770744C= | CA2319043653 | RAX2 | c.432G= (p.Ala144=) c.570G= (p.Ala190=) | |
| 19 | g.3770744C>G | CA505158149 | RAX2 | c.432G>C (p.Ala144=) c.570G>C (p.Ala190=) | |
| 19 | g.3770744C>T | CA9085036 | RAX2 | c.432G>A (p.Ala144=) c.570G>A (p.Ala190=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770744_3770745insACA | CA2813344235 | RAX2 | c.431_432insTGT (p.Ala144_Ser145insVal) c.569_570insTGT (p.Ala190_Ser191insVal) | |
| 19 | g.3770745G>A | CA304416655 | RAX2 | c.431C>T (p.Ala144Val) c.569C>T (p.Ala190Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770745G>C | CA403374416 | RAX2 | c.431C>G (p.Ala144Gly) c.569C>G (p.Ala190Gly) | |
| 19 | g.3770745G= | CA2319043656 | RAX2 | c.431C= (p.Ala144=) c.569C= (p.Ala190=) | |
| 19 | g.3770745G>T | CA304416656 | RAX2 | c.431C>A (p.Ala144Glu) c.569C>A (p.Ala190Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.3770746C>A | CA304416658 | RAX2 | c.430G>T (p.Ala144Ser) c.568G>T (p.Ala190Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770746C= | CA2319043658 | RAX2 | c.430G= (p.Ala144=) c.568G= (p.Ala190=) | |
| 19 | g.3770746C>G | CA403374422 | RAX2 | c.430G>C (p.Ala144Pro) c.568G>C (p.Ala190Pro) | gnomAD v4 |
| 19 | g.3770746C>T | CA403374420 | RAX2 | c.430G>A (p.Ala144Thr) c.568G>A (p.Ala190Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.3770747T>A | CA403374425 | RAX2 | c.429A>T (p.Gln143His) c.567A>T (p.Gln189His) | |
| 19 | g.3770747T>C | CA304416660 | RAX2 | c.429A>G (p.Gln143=) c.567A>G (p.Gln189=) | dbSNP gnomAD v4 |
| 19 | g.3770747T>G | CA403374426 | RAX2 | c.429A>C (p.Gln143His) c.567A>C (p.Gln189His) | |
| 19 | g.3770747T= | CA2319043660 | RAX2 | c.429A= (p.Gln143=) c.567A= (p.Gln189=) | |
| 19 | g.3770747_3770748del | CA2813344236 | RAX2 | c.428_429del (p.Gln143ArgfsTer?) c.566_567del (p.Gln189ArgfsTer?) | |
| 19 | g.3770748T>A | CA403374428 | RAX2 | c.428A>T (p.Gln143Leu) c.566A>T (p.Gln189Leu) | |
| 19 | g.3770748T>C | CA403374431 | RAX2 | c.428A>G (p.Gln143Arg) c.566A>G (p.Gln189Arg) | gnomAD v4 |
| 19 | g.3770748T>G | CA403374432 | RAX2 | c.428A>C (p.Gln143Pro) c.566A>C (p.Gln189Pro) | |
| 19 | g.3770749del | CA2584525867 | RAX2 | c.427del (p.Gln143LysfsTer?) c.565del (p.Gln189LysfsTer?) | gnomAD v4 |
| 19 | g.3770749G>A | CA403374439 | RAX2 | c.427C>T (p.Gln143Ter) c.565C>T (p.Gln189Ter) | gnomAD v4 |
| 19 | g.3770749G>C | CA403374436 | RAX2 | c.427C>G (p.Gln143Glu) c.565C>G (p.Gln189Glu) | gnomAD v4 |
| 19 | g.3770749G>T | CA403374435 | RAX2 | c.427C>A (p.Gln143Lys) c.565C>A (p.Gln189Lys) | gnomAD v4 |
| 19 | g.3770750del | CA2813344237 | RAX2 | c.426del (p.Gln143LysfsTer?) c.564del (p.Gln189LysfsTer?) | |
| 19 | g.3770750C>A | CA505158169 | RAX2 | c.426G>T (p.Leu142=) c.564G>T (p.Leu188=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.3770750C= | CA2319043662 | RAX2 | c.426G= (p.Leu142=) c.564G= (p.Leu188=) | |
| 19 | g.3770750C>G | CA505158168 | RAX2 | c.426G>C (p.Leu142=) c.564G>C (p.Leu188=) | |
| 19 | g.3770750C>T | CA505158167 | RAX2 | c.426G>A (p.Leu142=) c.564G>A (p.Leu188=) | ClinVar gnomAD v4 |
| 19 | g.3770751A>C | CA403374441 | RAX2 | c.425T>G (p.Leu142Arg) c.563T>G (p.Leu188Arg) | |
| 19 | g.3770751A>G | CA403374443 | RAX2 | c.425T>C (p.Leu142Pro) c.563T>C (p.Leu188Pro) | dbSNP gnomAD v4 COSMIC |
| 19 | g.3770751A>T | CA403374445 | RAX2 | c.425T>A (p.Leu142Gln) c.563T>A (p.Leu188Gln) | |
| 19 | g.3770752G>A | CA505158171 | RAX2 | c.424C>T (p.Leu142=) c.562C>T (p.Leu188=) | |
| 19 | g.3770752G>C | CA403374447 | RAX2 | c.424C>G (p.Leu142Val) c.562C>G (p.Leu188Val) | |
| 19 | g.3770752G>T | CA403374449 | RAX2 | c.424C>A (p.Leu142Met) c.562C>A (p.Leu188Met) | gnomAD v4 |
| 19 | g.3770753C>A | CA505158176 | RAX2 | c.423G>T (p.Gly141=) c.561G>T (p.Gly187=) | gnomAD v4 |
| 19 | g.3770753C= | CA2319043665 | RAX2 | c.423G= (p.Gly141=) c.561G= (p.Gly187=) | |
| 19 | g.3770753C>G | CA505158178 | RAX2 | c.423G>C (p.Gly141=) c.561G>C (p.Gly187=) | |
| 19 | g.3770753C>T | CA505158177 | RAX2 | c.423G>A (p.Gly141=) c.561G>A (p.Gly187=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770756del | CA2584525868 | RAX2 | c.423del (p.Leu142CysfsTer?) c.561del (p.Leu188CysfsTer?) | gnomAD v4 |
| 19 | g.3770753_3770759delinsCCCCGGG | CA2319043664 | RAX2 | c.417_423delinsCCCGGGG (p.Gly139=) c.555_561delinsCCCGGGG (p.Gly185=) | |
| 19 | g.3770754C>A | CA403374455 | RAX2 | c.422G>T (p.Gly141Val) c.560G>T (p.Gly187Val) | gnomAD v4 |
| 19 | g.3770754C= | CA2319043669 | RAX2 | c.422G= (p.Gly141=) c.560G= (p.Gly187=) | |
| 19 | g.3770754C>G | CA403374459 | RAX2 | c.422G>C (p.Gly141Ala) c.560G>C (p.Gly187Ala) | |
| 19 | g.3770754C>T | CA403374457 | RAX2 | c.422G>A (p.Gly141Glu) c.560G>A (p.Gly187Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.3770754_3770765delinsCCCGGGCCCGGG | CA2319043668 | RAX2 | c.411_422delinsCCCGGGCCCGGG (p.Gly137=) c.549_560delinsCCCGGGCCCGGG (p.Gly183=) | |
| 19 | g.3770763_3770768dup | CA114877 | RAX2 | c.417_422dup (p.Gly141_Leu142insProGly) c.555_560dup (p.Gly187_Leu188insProGly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770763_3770768del | CA992773996 | RAX2 | c.417_422del (p.Pro140_Gly141del) c.555_560del (p.Pro186_Gly187del) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.3770755C>A | CA403374465 | RAX2 | c.421G>T (p.Gly141Trp) c.559G>T (p.Gly187Trp) | gnomAD v4 |
| 19 | g.3770755C>G | CA403374466 | RAX2 | c.421G>C (p.Gly141Arg) c.559G>C (p.Gly187Arg) | |
| 19 | g.3770755C>T | CA403374469 | RAX2 | c.421G>A (p.Gly141Arg) c.559G>A (p.Gly187Arg) | gnomAD v4 |
| 19 | g.3770757_3770767del | CA2319043672 | RAX2 | c.411_421del (p.Pro138AlafsTer?) c.549_559del (p.Pro184AlafsTer?) | dbSNP |
| 19 | g.3770755_3770842delinsCCGGGCCCGGGCCCAGGAGGCGGGGGAGGCCTGGCACGGCCGGCGGTCCGGGGCCCAACCAGGGCTCCAGGGGCAGCGACATGGCCGG | CA2319043673 | RAX2 | c.334_421delinsCCGGCCATGTCGCTGCCCCTGGAGCCCTGGTTGGGCCCCGGACCGCCGGCCGTGCCAGGCCTCCCCCGCCTCCTGGGCCCGGGCCCGG (p.Pro112=) c.472_559delinsCCGGCCATGTCGCTGCCCCTGGAGCCCTGGTTGGGCCCCGGACCGCCGGCCGTGCCAGGCCTCCCCCGCCTCCTGGGCCCGGGCCCGG (p.Pro158=) | |
| 19 | g.3770756C>A | CA505158180 | RAX2 | c.420G>T (p.Pro140=) c.558G>T (p.Pro186=) | gnomAD v4 |
| 19 | g.3770756C= | CA2319043675 | RAX2 | c.420G= (p.Pro140=) c.558G= (p.Pro186=) | |
| 19 | g.3770756C>G | CA505158182 | RAX2 | c.420G>C (p.Pro140=) c.558G>C (p.Pro186=) | gnomAD v4 |
| 19 | g.3770756C>T | CA304416666 | RAX2 | c.420G>A (p.Pro140=) c.558G>A (p.Pro186=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770756_3770842del | CA631712946 | RAX2 | c.334_420del (p.Pro112_Pro140del) c.472_558del (p.Pro158_Pro186del) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.3770757G>A | CA9085037 | RAX2 | c.419C>T (p.Pro140Leu) c.557C>T (p.Pro186Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770757G>C | CA403374473 | RAX2 | c.419C>G (p.Pro140Arg) c.557C>G (p.Pro186Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.3770757G= | CA2319043678 | RAX2 | c.419C= (p.Pro140=) c.557C= (p.Pro186=) | |
| 19 | g.3770757G>T | CA403374474 | RAX2 | c.419C>A (p.Pro140Gln) c.557C>A (p.Pro186Gln) | gnomAD v4 |
| 19 | g.3770759del | CA2584525869 | RAX2 | c.419del (p.Pro140ArgfsTer?) c.557del (p.Pro186ArgfsTer?) | gnomAD v4 |
| 19 | g.3770757_3770798delinsGGGCCCGGGCCCAGGAGGCGGGGGAGGCCTGGCACGGCCGGC | CA2319043680 | RAX2 | c.378_419delinsGCCGGCCGTGCCAGGCCTCCCCCGCCTCCTGGGCCCGGGCCC (p.Pro126=) c.516_557delinsGCCGGCCGTGCCAGGCCTCCCCCGCCTCCTGGGCCCGGGCCC (p.Pro172=) | |
| 19 | g.3770758G>A | CA403374475 | RAX2 | c.418C>T (p.Pro140Ser) c.556C>T (p.Pro186Ser) | gnomAD v4 |
| 19 | g.3770758G>C | CA403374477 | RAX2 | c.418C>G (p.Pro140Ala) c.556C>G (p.Pro186Ala) | |
| 19 | g.3770758G>T | CA403374480 | RAX2 | c.418C>A (p.Pro140Thr) c.556C>A (p.Pro186Thr) | gnomAD v4 COSMIC |
| 19 | g.3770760_3770800del | CA992774022 | RAX2 | c.378_418del (p.Pro127GlyfsTer?) c.516_556del (p.Pro173GlyfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.3770758_3770759insACA | CA2813344238 | RAX2 | c.417_418insTGT (p.Gly139_Pro140insCys) c.555_556insTGT (p.Gly185_Pro186insCys) | |
| 19 | g.3770759G>A | CA505158187 | RAX2 | c.417C>T (p.Gly139=) c.555C>T (p.Gly185=) | gnomAD v4 |
| 19 | g.3770759G>C | CA505158188 | RAX2 | c.417C>G (p.Gly139=) c.555C>G (p.Gly185=) | |
| 19 | g.3770759G>T | CA505158189 | RAX2 | c.417C>A (p.Gly139=) c.555C>A (p.Gly185=) | gnomAD v4 |
| 19 | g.3770759_3770760delinsGC | CA2319043682 | RAX2 | c.416_417delinsGC (p.Gly139=) c.554_555delinsGC (p.Gly185=) | |
| 19 | g.3770760_3770763del | CA2584525870 | RAX2 | c.414_417del (p.Gly139ArgfsTer?) c.552_555del (p.Gly185ArgfsTer?) | gnomAD v4 |
| 19 | g.3770760C>A | CA403374488 | RAX2 | c.416G>T (p.Gly139Val) c.554G>T (p.Gly185Val) | dbSNP gnomAD v4 |
| 19 | g.3770760C= | CA2319043684 | RAX2 | c.416G= (p.Gly139=) c.554G= (p.Gly185=) | |
| 19 | g.3770760C>G | CA403374486 | RAX2 | c.416G>C (p.Gly139Ala) c.554G>C (p.Gly185Ala) | |
| 19 | g.3770760C>T | CA403374483 | RAX2 | c.416G>A (p.Gly139Asp) c.554G>A (p.Gly185Asp) | dbSNP gnomAD v4 |
| 19 | g.3770762del | CA631712947 | RAX2 | c.416del (p.Gly139AlafsTer?) c.554del (p.Gly185AlafsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770761C>A | CA403374489 | RAX2 | c.415G>T (p.Gly139Cys) c.553G>T (p.Gly185Cys) | gnomAD v4 |
| 19 | g.3770761C>G | CA403374496 | RAX2 | c.415G>C (p.Gly139Arg) c.553G>C (p.Gly185Arg) | |
| 19 | g.3770761C>T | CA403374491 | RAX2 | c.415G>A (p.Gly139Ser) c.553G>A (p.Gly185Ser) | gnomAD v4 |
| 19 | g.3770762C>A | CA505158191 | RAX2 | c.414G>T (p.Pro138=) c.552G>T (p.Pro184=) | gnomAD v4 |
| 19 | g.3770762C= | CA2319043698 | RAX2 | c.414G= (p.Pro138=) c.552G= (p.Pro184=) | |
| 19 | g.3770762C>G | CA505158192 | RAX2 | c.414G>C (p.Pro138=) c.552G>C (p.Pro184=) | gnomAD v4 |
| 19 | g.3770762C>T | CA505158193 | RAX2 | c.414G>A (p.Pro138=) c.552G>A (p.Pro184=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770763G>A | CA304416672 | RAX2 | c.413C>T (p.Pro138Leu) c.551C>T (p.Pro184Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770763G>C | CA403374500 | RAX2 | c.413C>G (p.Pro138Arg) c.551C>G (p.Pro184Arg) | |
| 19 | g.3770763G= | CA2319043701 | RAX2 | c.413C= (p.Pro138=) c.551C= (p.Pro184=) | |
| 19 | g.3770763G>T | CA403374501 | RAX2 | c.413C>A (p.Pro138Gln) c.551C>A (p.Pro184Gln) | gnomAD v4 |
| 19 | g.3770764G>A | CA403374503 | RAX2 | c.412C>T (p.Pro138Ser) c.550C>T (p.Pro184Ser) | gnomAD v4 |
| 19 | g.3770764G>C | CA403374505 | RAX2 | c.412C>G (p.Pro138Ala) c.550C>G (p.Pro184Ala) | |
| 19 | g.3770764G>T | CA403374506 | RAX2 | c.412C>A (p.Pro138Thr) c.550C>A (p.Pro184Thr) | gnomAD v4 |
| 19 | g.3770766_3770771dup | CA2580096170 | RAX2 | c.407_412dup (p.Gly137_Pro138insLeuGly) c.545_550dup (p.Gly183_Pro184insLeuGly) | ClinVar gnomAD v4 |
| 19 | g.3770765G>A | CA505158194 | RAX2 | c.411C>T (p.Gly137=) c.549C>T (p.Gly183=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.3770765G>C | CA505158196 | RAX2 | c.411C>G (p.Gly137=) c.549C>G (p.Gly183=) | |
| 19 | g.3770765G= | CA2319043702 | RAX2 | c.411C= (p.Gly137=) c.549C= (p.Gly183=) | |
| 19 | g.3770765G>T | CA505158197 | RAX2 | c.411C>A (p.Gly137=) c.549C>A (p.Gly183=) | gnomAD v4 |
| 19 | g.3770765_3770768del | CA2813344239 | RAX2 | c.408_411del (p.Gly137ArgfsTer?) c.546_549del (p.Gly183ArgfsTer?) | |
| 19 | g.3770766C>A | CA403374508 | RAX2 | c.410G>T (p.Gly137Val) c.548G>T (p.Gly183Val) | |
| 19 | g.3770766C>G | CA403374509 | RAX2 | c.410G>C (p.Gly137Ala) c.548G>C (p.Gly183Ala) | |
| 19 | g.3770766C>T | CA403374511 | RAX2 | c.410G>A (p.Gly137Asp) c.548G>A (p.Gly183Asp) | gnomAD v4 |
| 19 | g.3770767C>A | CA403374514 | RAX2 | c.409G>T (p.Gly137Cys) c.547G>T (p.Gly183Cys) | gnomAD v4 COSMIC |
| 19 | g.3770767C= | CA2319043704 | RAX2 | c.409G= (p.Gly137=) c.547G= (p.Gly183=) | |
| 19 | g.3770767C>G | CA114876 | RAX2 | c.409G>C (p.Gly137Arg) c.547G>C (p.Gly183Arg) | ClinVar dbSNP |
| 19 | g.3770767C>T | CA403374517 | RAX2 | c.409G>A (p.Gly137Ser) c.547G>A (p.Gly183Ser) | gnomAD v4 |
| 19 | g.3770768C>A | CA505158200 | RAX2 | c.408G>T (p.Leu136=) c.546G>T (p.Leu182=) | gnomAD v4 |
| 19 | g.3770768C>G | CA505158201 | RAX2 | c.408G>C (p.Leu136=) c.546G>C (p.Leu182=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.3770768C>T | CA505158199 | RAX2 | c.408G>A (p.Leu136=) c.546G>A (p.Leu182=) | |
| 19 | g.3770769A>C | CA403374523 | RAX2 | c.407T>G (p.Leu136Arg) c.545T>G (p.Leu182Arg) | |
| 19 | g.3770769A>G | CA403374519 | RAX2 | c.407T>C (p.Leu136Pro) c.545T>C (p.Leu182Pro) | gnomAD v4 |
| 19 | g.3770769A>T | CA403374520 | RAX2 | c.407T>A (p.Leu136Gln) c.545T>A (p.Leu182Gln) | |
| 19 | g.3770770G>A | CA505158202 | RAX2 | c.406C>T (p.Leu136=) c.544C>T (p.Leu182=) | |
| 19 | g.3770770G>C | CA403374525 | RAX2 | c.406C>G (p.Leu136Val) c.544C>G (p.Leu182Val) | |
| 19 | g.3770770G>T | CA403374528 | RAX2 | c.406C>A (p.Leu136Met) c.544C>A (p.Leu182Met) | gnomAD v4 |
| 19 | g.3770771G>A | CA505158203 | RAX2 | c.405C>T (p.Leu135=) c.543C>T (p.Leu181=) | gnomAD v4 |
| 19 | g.3770771G>C | CA505158204 | RAX2 | c.405C>G (p.Leu135=) c.543C>G (p.Leu181=) | |
| 19 | g.3770771G>T | CA505158205 | RAX2 | c.405C>A (p.Leu135=) c.543C>A (p.Leu181=) | gnomAD v4 |
| 19 | g.3770772A>C | CA403374530 | RAX2 | c.404T>G (p.Leu135Arg) c.542T>G (p.Leu181Arg) | |
| 19 | g.3770772A>G | CA403374531 | RAX2 | c.404T>C (p.Leu135Pro) c.542T>C (p.Leu181Pro) | |
| 19 | g.3770772A>T | CA403374534 | RAX2 | c.404T>A (p.Leu135His) c.542T>A (p.Leu181His) | gnomAD v4 |
| 19 | g.3770773G>A | CA403374535 | RAX2 | c.403C>T (p.Leu135Phe) c.541C>T (p.Leu181Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.3770773G>C | CA403374538 | RAX2 | c.403C>G (p.Leu135Val) c.541C>G (p.Leu181Val) | |
| 19 | g.3770773G= | CA2319043705 | RAX2 | c.403C= (p.Leu135=) c.541C= (p.Leu181=) | |
| 19 | g.3770773G>T | CA403374539 | RAX2 | c.403C>A (p.Leu135Ile) c.541C>A (p.Leu181Ile) | ClinVar gnomAD v4 |
| 19 | g.3770773_3770774insAGA | CA2813344240 | RAX2 | c.402_403insTCT (p.Arg134_Leu135insSer) c.540_541insTCT (p.Arg180_Leu181insSer) | |
| 19 | g.3770774G>A | CA505158207 | RAX2 | c.402C>T (p.Arg134=) c.540C>T (p.Arg180=) | |
| 19 | g.3770774G>C | CA505158208 | RAX2 | c.402C>G (p.Arg134=) c.540C>G (p.Arg180=) | |
| 19 | g.3770774G>T | CA505158209 | RAX2 | c.402C>A (p.Arg134=) c.540C>A (p.Arg180=) | gnomAD v4 |
| 19 | g.3770775C>A | CA403374541 | RAX2 | c.401G>T (p.Arg134Leu) c.539G>T (p.Arg180Leu) | |
| 19 | g.3770775C= | CA2319043707 | RAX2 | c.401G= (p.Arg134=) c.539G= (p.Arg180=) | |
| 19 | g.3770775C>G | CA304416684 | RAX2 | c.401G>C (p.Arg134Pro) c.539G>C (p.Arg180Pro) | dbSNP gnomAD v4 |
| 19 | g.3770775C>T | CA403374544 | RAX2 | c.401G>A (p.Arg134His) c.539G>A (p.Arg180His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770776G>A | CA304416686 | RAX2 | c.400C>T (p.Arg134Cys) c.538C>T (p.Arg180Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770776G>C | CA403374550 | RAX2 | c.400C>G (p.Arg134Gly) c.538C>G (p.Arg180Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.3770776G= | CA2319043709 | RAX2 | c.400C= (p.Arg134=) c.538C= (p.Arg180=) | |
| 19 | g.3770776G>T | CA403374547 | RAX2 | c.400C>A (p.Arg134Ser) c.538C>A (p.Arg180Ser) | gnomAD v4 |
| 19 | g.3770780del | CA2584525871 | RAX2 | c.400del (p.Arg134AlafsTer?) c.538del (p.Arg180AlafsTer?) | dbSNP gnomAD v4 |