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 |
|---|---|---|---|---|---|
| 11 | g.128839801C>A | CA383245052 | KCNJ1 | c.443G>T (p.Gly148Val) c.500G>T (p.Gly167Val) c.494G>T (p.Gly165Val) | |
| 11 | g.128839801C= | CA2008251103 | KCNJ1 | c.443G= (p.Gly148=) c.500G= (p.Gly167=) c.494G= (p.Gly165=) | |
| 11 | g.128839801C>G | CA383245050 | KCNJ1 | c.443G>C (p.Gly148Ala) c.500G>C (p.Gly167Ala) c.494G>C (p.Gly165Ala) | |
| 11 | g.128839801C>T | CA120160 | KCNJ1 | c.443G>A (p.Gly148Glu) c.500G>A (p.Gly167Glu) c.494G>A (p.Gly165Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.128839802C>A | CA383245053 | KCNJ1 | c.442G>T (p.Gly148Ter) c.499G>T (p.Gly167Ter) c.493G>T (p.Gly165Ter) | |
| 11 | g.128839802C>G | CA383245054 | KCNJ1 | c.442G>C (p.Gly148Arg) c.499G>C (p.Gly167Arg) c.493G>C (p.Gly165Arg) | |
| 11 | g.128839802C>T | CA383245056 | KCNJ1 | c.442G>A (p.Gly148Arg) c.499G>A (p.Gly167Arg) c.493G>A (p.Gly165Arg) | COSMIC |
| 11 | g.128839802_128839814delinsCAAGTATAGACTG | CA2008251107 | KCNJ1 | c.430_442delinsCAGTCTATACTTG (p.Gln144=) c.487_499delinsCAGTCTATACTTG (p.Gln163=) c.481_493delinsCAGTCTATACTTG (p.Gln161=) | |
| 11 | g.128839803A>C | CA477703453 | KCNJ1 | c.441T>G (p.Leu147=) c.498T>G (p.Leu166=) c.492T>G (p.Leu164=) | |
| 11 | g.128839803A>G | CA477703454 | KCNJ1 | c.441T>C (p.Leu147=) c.498T>C (p.Leu166=) c.492T>C (p.Leu164=) | |
| 11 | g.128839803A>T | CA477703456 | KCNJ1 | c.441T>A (p.Leu147=) c.498T>A (p.Leu166=) c.492T>A (p.Leu164=) | |
| 11 | g.128839805_128839816del | CA602585820 | KCNJ1 | c.430_441del (p.Gln144_Leu147del) c.487_498del (p.Gln163_Leu166del) c.481_492del (p.Gln161_Leu164del) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.128839804A>C | CA383245058 | KCNJ1 | c.440T>G (p.Leu147Arg) c.497T>G (p.Leu166Arg) c.491T>G (p.Leu164Arg) | |
| 11 | g.128839804A>G | CA383245060 | KCNJ1 | c.440T>C (p.Leu147Pro) c.497T>C (p.Leu166Pro) c.491T>C (p.Leu164Pro) | |
| 11 | g.128839804A>T | CA383245061 | KCNJ1 | c.440T>A (p.Leu147His) c.497T>A (p.Leu166His) c.491T>A (p.Leu164His) | |
| 11 | g.128839805G>A | CA6357521 | KCNJ1 | c.439C>T (p.Leu147Phe) c.496C>T (p.Leu166Phe) c.490C>T (p.Leu164Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839805G>C | CA383245064 | KCNJ1 | c.439C>G (p.Leu147Val) c.496C>G (p.Leu166Val) c.490C>G (p.Leu164Val) | |
| 11 | g.128839805G= | CA2008251115 | KCNJ1 | c.439C= (p.Leu147=) c.496C= (p.Leu166=) c.490C= (p.Leu164=) | |
| 11 | g.128839805G>T | CA383245066 | KCNJ1 | c.439C>A (p.Leu147Ile) c.496C>A (p.Leu166Ile) c.490C>A (p.Leu164Ile) | |
| 11 | g.128839806T>A | CA477703460 | KCNJ1 | c.438A>T (p.Ile146=) c.495A>T (p.Ile165=) c.489A>T (p.Ile163=) | gnomAD v4 |
| 11 | g.128839806T>C | CA383245068 | KCNJ1 | c.438A>G (p.Ile146Met) c.495A>G (p.Ile165Met) c.489A>G (p.Ile163Met) | gnomAD v4 |
| 11 | g.128839806T>G | CA477703461 | KCNJ1 | c.438A>C (p.Ile146=) c.495A>C (p.Ile165=) c.489A>C (p.Ile163=) | |
| 11 | g.128839807A= | CA2008251120 | KCNJ1 | c.437T= (p.Ile146=) c.494T= (p.Ile165=) c.488T= (p.Ile163=) | |
| 11 | g.128839807A>C | CA383245073 | KCNJ1 | c.437T>G (p.Ile146Arg) c.494T>G (p.Ile165Arg) c.488T>G (p.Ile163Arg) | |
| 11 | g.128839807A>G | CA383245074 | KCNJ1 | c.437T>C (p.Ile146Thr) c.494T>C (p.Ile165Thr) c.488T>C (p.Ile163Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.128839807A>T | CA383245075 | KCNJ1 | c.437T>A (p.Ile146Lys) c.494T>A (p.Ile165Lys) c.488T>A (p.Ile163Lys) | |
| 11 | g.128839808T>A | CA383245080 | KCNJ1 | c.436A>T (p.Ile146Leu) c.493A>T (p.Ile165Leu) c.487A>T (p.Ile163Leu) | |
| 11 | g.128839808T>C | CA383245076 | KCNJ1 | c.436A>G (p.Ile146Val) c.493A>G (p.Ile165Val) c.487A>G (p.Ile163Val) | gnomAD v4 |
| 11 | g.128839808T>G | CA383245078 | KCNJ1 | c.436A>C (p.Ile146Leu) c.493A>C (p.Ile165Leu) c.487A>C (p.Ile163Leu) | |
| 11 | g.128839809A= | CA2008251125 | KCNJ1 | c.435T= (p.Ser145=) c.492T= (p.Ser164=) c.486T= (p.Ser162=) | |
| 11 | g.128839809A>C | CA477703464 | KCNJ1 | c.435T>G (p.Ser145=) c.492T>G (p.Ser164=) c.486T>G (p.Ser162=) | |
| 11 | g.128839809A>G | CA477703465 | KCNJ1 | c.435T>C (p.Ser145=) c.492T>C (p.Ser164=) c.486T>C (p.Ser162=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.128839809A>T | CA477703466 | KCNJ1 | c.435T>A (p.Ser145=) c.492T>A (p.Ser164=) c.486T>A (p.Ser162=) | |
| 11 | g.128839810G>A | CA383245082 | KCNJ1 | c.434C>T (p.Ser145Phe) c.491C>T (p.Ser164Phe) c.485C>T (p.Ser162Phe) | dbSNP |
| 11 | g.128839810G>C | CA383245084 | KCNJ1 | c.434C>G (p.Ser145Cys) c.491C>G (p.Ser164Cys) c.485C>G (p.Ser162Cys) | |
| 11 | g.128839810G= | CA2008251131 | KCNJ1 | c.434C= (p.Ser145=) c.491C= (p.Ser164=) c.485C= (p.Ser162=) | |
| 11 | g.128839810G>T | CA383245090 | KCNJ1 | c.434C>A (p.Ser145Tyr) c.491C>A (p.Ser164Tyr) c.485C>A (p.Ser162Tyr) | |
| 11 | g.128839811A= | CA2008251134 | KCNJ1 | c.433T= (p.Ser145=) c.490T= (p.Ser164=) c.484T= (p.Ser162=) | |
| 11 | g.128839811A>C | CA383245094 | KCNJ1 | c.433T>G (p.Ser145Ala) c.490T>G (p.Ser164Ala) c.484T>G (p.Ser162Ala) | |
| 11 | g.128839811A>G | CA230628677 | KCNJ1 | c.433T>C (p.Ser145Pro) c.490T>C (p.Ser164Pro) c.484T>C (p.Ser162Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839811A>T | CA383245102 | KCNJ1 | c.433T>A (p.Ser145Thr) c.490T>A (p.Ser164Thr) c.484T>A (p.Ser162Thr) | |
| 11 | g.128839812C>A | CA230628690 | KCNJ1 | c.432G>T (p.Gln144His) c.489G>T (p.Gln163His) c.483G>T (p.Gln161His) | dbSNP gnomAD v4 |
| 11 | g.128839812C= | CA2008251139 | KCNJ1 | c.432G= (p.Gln144=) c.489G= (p.Gln163=) c.483G= (p.Gln161=) | |
| 11 | g.128839812C>G | CA383245106 | KCNJ1 | c.432G>C (p.Gln144His) c.489G>C (p.Gln163His) c.483G>C (p.Gln161His) | |
| 11 | g.128839812C>T | CA6357522 | KCNJ1 | c.432G>A (p.Gln144=) c.489G>A (p.Gln163=) c.483G>A (p.Gln161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839813T>A | CA383245116 | KCNJ1 | c.431A>T (p.Gln144Leu) c.488A>T (p.Gln163Leu) c.482A>T (p.Gln161Leu) | |
| 11 | g.128839813T>C | CA383245119 | KCNJ1 | c.431A>G (p.Gln144Arg) c.488A>G (p.Gln163Arg) c.482A>G (p.Gln161Arg) | |
| 11 | g.128839813T>G | CA383245121 | KCNJ1 | c.431A>C (p.Gln144Pro) c.488A>C (p.Gln163Pro) c.482A>C (p.Gln161Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.128839813T= | CA2008251143 | KCNJ1 | c.431A= (p.Gln144=) c.488A= (p.Gln163=) c.482A= (p.Gln161=) | |
| 11 | g.128839814G>A | CA383245128 | KCNJ1 | c.430C>T (p.Gln144Ter) c.487C>T (p.Gln163Ter) c.481C>T (p.Gln161Ter) | |
| 11 | g.128839814G>C | CA383245134 | KCNJ1 | c.430C>G (p.Gln144Glu) c.487C>G (p.Gln163Glu) c.481C>G (p.Gln161Glu) | |
| 11 | g.128839814G>T | CA383245126 | KCNJ1 | c.430C>A (p.Gln144Lys) c.487C>A (p.Gln163Lys) c.481C>A (p.Gln161Lys) | |
| 11 | g.128839815A= | CA2008251147 | KCNJ1 | c.429T= (p.Phe143=) c.486T= (p.Phe162=) c.480T= (p.Phe160=) | |
| 11 | g.128839815A>C | CA383245140 | KCNJ1 | c.429T>G (p.Phe143Leu) c.486T>G (p.Phe162Leu) c.480T>G (p.Phe160Leu) | |
| 11 | g.128839815A>G | CA6357523 | KCNJ1 | c.429T>C (p.Phe143=) c.486T>C (p.Phe162=) c.480T>C (p.Phe160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839815A>T | CA383245142 | KCNJ1 | c.429T>A (p.Phe143Leu) c.486T>A (p.Phe162Leu) c.480T>A (p.Phe160Leu) | |
| 11 | g.128839815_128839820delinsAAAGAT | CA2008251151 | KCNJ1 | c.424_429delinsATCTTT (p.Ile142=) c.481_486delinsATCTTT (p.Ile161=) c.475_480delinsATCTTT (p.Ile159=) | |
| 11 | g.128839816A>C | CA383245148 | KCNJ1 | c.428T>G (p.Phe143Cys) c.485T>G (p.Phe162Cys) c.479T>G (p.Phe160Cys) | |
| 11 | g.128839816A>G | CA383245150 | KCNJ1 | c.428T>C (p.Phe143Ser) c.485T>C (p.Phe162Ser) c.479T>C (p.Phe160Ser) | |
| 11 | g.128839816A>T | CA383245152 | KCNJ1 | c.428T>A (p.Phe143Tyr) c.485T>A (p.Phe162Tyr) c.479T>A (p.Phe160Tyr) | |
| 11 | g.128839816_128839820delinsAAGAT | CA2008251158 | KCNJ1 | c.424_428delinsATCTT (p.Ile142=) c.481_485delinsATCTT (p.Ile161=) c.475_479delinsATCTT (p.Ile159=) | |
| 11 | g.128839819_128839823del | CA602585821 | KCNJ1 | c.424_428del (p.Ile142SerfsTer?) c.481_485del (p.Ile161SerfsTer?) c.475_479del (p.Ile159SerfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839817A>C | CA383245154 | KCNJ1 | c.427T>G (p.Phe143Val) c.484T>G (p.Phe162Val) c.478T>G (p.Phe160Val) | |
| 11 | g.128839817A>G | CA383245158 | KCNJ1 | c.427T>C (p.Phe143Leu) c.484T>C (p.Phe162Leu) c.478T>C (p.Phe160Leu) | |
| 11 | g.128839817A>T | CA383245160 | KCNJ1 | c.427T>A (p.Phe143Ile) c.484T>A (p.Phe162Ile) c.478T>A (p.Phe160Ile) | |
| 11 | g.128839818_128839821del | CA645596350 | KCNJ1 | c.424_427del (p.Ile142PhefsTer8) c.481_484del (p.Ile161PhefsTer8) c.475_478del (p.Ile159PhefsTer8) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.128839818G>A | CA477703478 | KCNJ1 | c.426C>T (p.Ile142=) c.483C>T (p.Ile161=) c.477C>T (p.Ile159=) | |
| 11 | g.128839818G>C | CA383245164 | KCNJ1 | c.426C>G (p.Ile142Met) c.483C>G (p.Ile161Met) c.477C>G (p.Ile159Met) | |
| 11 | g.128839818G>T | CA477703481 | KCNJ1 | c.426C>A (p.Ile142=) c.483C>A (p.Ile161=) c.477C>A (p.Ile159=) | |
| 11 | g.128839819A>C | CA383245170 | KCNJ1 | c.425T>G (p.Ile142Ser) c.482T>G (p.Ile161Ser) c.476T>G (p.Ile159Ser) | |
| 11 | g.128839819A>G | CA383245173 | KCNJ1 | c.425T>C (p.Ile142Thr) c.482T>C (p.Ile161Thr) c.476T>C (p.Ile159Thr) | |
| 11 | g.128839819A>T | CA383245176 | KCNJ1 | c.425T>A (p.Ile142Asn) c.482T>A (p.Ile161Asn) c.476T>A (p.Ile159Asn) | |
| 11 | g.128839820T>A | CA383245191 | KCNJ1 | c.424A>T (p.Ile142Phe) c.481A>T (p.Ile161Phe) c.475A>T (p.Ile159Phe) | |
| 11 | g.128839820T>C | CA383245188 | KCNJ1 | c.424A>G (p.Ile142Val) c.481A>G (p.Ile161Val) c.475A>G (p.Ile159Val) | |
| 11 | g.128839820T>G | CA383245179 | KCNJ1 | c.424A>C (p.Ile142Leu) c.481A>C (p.Ile161Leu) c.475A>C (p.Ile159Leu) | |
| 11 | g.128839821A>C | CA477703485 | KCNJ1 | c.423T>G (p.Leu141=) c.480T>G (p.Leu160=) c.474T>G (p.Leu158=) | |
| 11 | g.128839821A>G | CA477703487 | KCNJ1 | c.423T>C (p.Leu141=) c.480T>C (p.Leu160=) c.474T>C (p.Leu158=) | |
| 11 | g.128839821A>T | CA477703486 | KCNJ1 | c.423T>A (p.Leu141=) c.480T>A (p.Leu160=) c.474T>A (p.Leu158=) | |
| 11 | g.128839822A>C | CA383245192 | KCNJ1 | c.422T>G (p.Leu141Arg) c.479T>G (p.Leu160Arg) c.473T>G (p.Leu158Arg) | |
| 11 | g.128839822A>G | CA383245194 | KCNJ1 | c.422T>C (p.Leu141Pro) c.479T>C (p.Leu160Pro) c.473T>C (p.Leu158Pro) | |
| 11 | g.128839822A>T | CA383245196 | KCNJ1 | c.422T>A (p.Leu141His) c.479T>A (p.Leu160His) c.473T>A (p.Leu158His) | |
| 11 | g.128839823G>A | CA383245198 | KCNJ1 | c.421C>T (p.Leu141Phe) c.478C>T (p.Leu160Phe) c.472C>T (p.Leu158Phe) | |
| 11 | g.128839823G>C | CA383245200 | KCNJ1 | c.421C>G (p.Leu141Val) c.478C>G (p.Leu160Val) c.472C>G (p.Leu158Val) | |
| 11 | g.128839823G>T | CA383245203 | KCNJ1 | c.421C>A (p.Leu141Ile) c.478C>A (p.Leu160Ile) c.472C>A (p.Leu158Ile) | |
| 11 | g.128839824C>A | CA477703488 | KCNJ1 | c.420G>T (p.Leu140=) c.477G>T (p.Leu159=) c.471G>T (p.Leu157=) | COSMIC |
| 11 | g.128839824C>G | CA477703490 | KCNJ1 | c.420G>C (p.Leu140=) c.477G>C (p.Leu159=) c.471G>C (p.Leu157=) | |
| 11 | g.128839824C>T | CA477703492 | KCNJ1 | c.420G>A (p.Leu140=) c.477G>A (p.Leu159=) c.471G>A (p.Leu157=) | |
| 11 | g.128839825A>C | CA383245207 | KCNJ1 | c.419T>G (p.Leu140Arg) c.476T>G (p.Leu159Arg) c.470T>G (p.Leu157Arg) | |
| 11 | g.128839825A>G | CA383245209 | KCNJ1 | c.419T>C (p.Leu140Pro) c.476T>C (p.Leu159Pro) c.470T>C (p.Leu157Pro) | |
| 11 | g.128839825A>T | CA383245211 | KCNJ1 | c.419T>A (p.Leu140Gln) c.476T>A (p.Leu159Gln) c.470T>A (p.Leu157Gln) | |
| 11 | g.128839826G>A | CA6357524 | KCNJ1 | c.418C>T (p.Leu140=) c.418C>T c.475C>T (p.Leu159=) c.469C>T (p.Leu157=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.128839826G>C | CA383245214 | KCNJ1 | c.418C>G (p.Leu140Val) c.418C>G c.475C>G (p.Leu159Val) c.469C>G (p.Leu157Val) | |
| 11 | g.128839826G= | CA2008251165 | KCNJ1 | c.418C= (p.Leu140=) c.418C= c.475C= (p.Leu159=) c.469C= (p.Leu157=) | |
| 11 | g.128839826G>T | CA6357525 | KCNJ1 | c.418C>A (p.Leu140Met) c.418C>A c.475C>A (p.Leu159Met) c.469C>A (p.Leu157Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.128839826_128839828delinsGAA | CA2008251164 | KCNJ1 | c.416_418delinsTTC (p.Phe139=) c.473_475delinsTTC (p.Phe158=) c.467_469delinsTTC (p.Phe156=) | |
| 11 | g.128839827A>C | CA383245229 | KCNJ1 | c.417T>G (p.Phe139Leu) c.474T>G (p.Phe158Leu) c.468T>G (p.Phe156Leu) | |
| 11 | g.128839827A>G | CA477703495 | KCNJ1 | c.417T>C (p.Phe139=) c.474T>C (p.Phe158=) c.468T>C (p.Phe156=) | |
| 11 | g.128839827A>T | CA383245227 | KCNJ1 | c.417T>A (p.Phe139Leu) c.474T>A (p.Phe158Leu) c.468T>A (p.Phe156Leu) | |
| 11 | g.128839830_128839831del | CA6357526 | KCNJ1 | c.416_417del (p.Phe139SerfsTer?) c.416_417del (p.Phe139=) c.473_474del (p.Phe158SerfsTer?) c.467_468del (p.Phe156SerfsTer?) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 11 | g.128839828A>C | CA383245234 | KCNJ1 | c.416T>G (p.Phe139Cys) c.473T>G (p.Phe158Cys) c.467T>G (p.Phe156Cys) | |
| 11 | g.128839828A>G | CA383245238 | KCNJ1 | c.416T>C (p.Phe139Ser) c.473T>C (p.Phe158Ser) c.467T>C (p.Phe156Ser) | |
| 11 | g.128839828A>T | CA383245236 | KCNJ1 | c.416T>A (p.Phe139Tyr) c.473T>A (p.Phe158Tyr) c.467T>A (p.Phe156Tyr) | |
| 11 | g.128839829A>C | CA383245240 | KCNJ1 | c.415T>G (p.Phe139Val) c.472T>G (p.Phe158Val) c.466T>G (p.Phe156Val) | |
| 11 | g.128839829A>G | CA383245241 | KCNJ1 | c.415T>C (p.Phe139Leu) c.472T>C (p.Phe158Leu) c.466T>C (p.Phe156Leu) | |
| 11 | g.128839829A>T | CA383245242 | KCNJ1 | c.415T>A (p.Phe139Ile) c.472T>A (p.Phe158Ile) c.466T>A (p.Phe156Ile) | |
| 11 | g.128839830A>C | CA383245243 | KCNJ1 | c.414T>G (p.Ile138Met) c.471T>G (p.Ile157Met) c.465T>G (p.Ile155Met) | gnomAD v4 |
| 11 | g.128839830A>G | CA477703500 | KCNJ1 | c.414T>C (p.Ile138=) c.471T>C (p.Ile157=) c.465T>C (p.Ile155=) | |
| 11 | g.128839830A>T | CA477703499 | KCNJ1 | c.414T>A (p.Ile138=) c.471T>A (p.Ile157=) c.465T>A (p.Ile155=) | |
| 11 | g.128839831A= | CA2008251176 | KCNJ1 | c.413T= (p.Ile138=) c.470T= (p.Ile157=) c.464T= (p.Ile155=) | |
| 11 | g.128839831A>C | CA383245244 | KCNJ1 | c.413T>G (p.Ile138Ser) c.470T>G (p.Ile157Ser) c.464T>G (p.Ile155Ser) | |
| 11 | g.128839831A>G | CA383245245 | KCNJ1 | c.413T>C (p.Ile138Thr) c.470T>C (p.Ile157Thr) c.464T>C (p.Ile155Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.128839831A>T | CA383245246 | KCNJ1 | c.413T>A (p.Ile138Asn) c.470T>A (p.Ile157Asn) c.464T>A (p.Ile155Asn) | dbSNP |
| 11 | g.128839832T>A | CA383245247 | KCNJ1 | c.412A>T (p.Ile138Phe) c.469A>T (p.Ile157Phe) c.463A>T (p.Ile155Phe) | |
| 11 | g.128839832T>C | CA383245249 | KCNJ1 | c.412A>G (p.Ile138Val) c.469A>G (p.Ile157Val) c.463A>G (p.Ile155Val) | dbSNP gnomAD v4 |
| 11 | g.128839832T>G | CA383245251 | KCNJ1 | c.412A>C (p.Ile138Leu) c.469A>C (p.Ile157Leu) c.463A>C (p.Ile155Leu) | |
| 11 | g.128839832T= | CA2008251181 | KCNJ1 | c.412A= (p.Ile138=) c.469A= (p.Ile157=) c.463A= (p.Ile155=) | |
| 11 | g.128839833G>A | CA6357527 | KCNJ1 | c.411C>T (p.Ala137=) c.468C>T (p.Ala156=) c.462C>T (p.Ala154=) | ClinVar dbSNP ExAC gnomAD v4 |
| 11 | g.128839833G>C | CA477703504 | KCNJ1 | c.411C>G (p.Ala137=) c.468C>G (p.Ala156=) c.462C>G (p.Ala154=) | |
| 11 | g.128839833G= | CA2008251189 | KCNJ1 | c.411C= (p.Ala137=) c.468C= (p.Ala156=) c.462C= (p.Ala154=) | |
| 11 | g.128839833G>T | CA477703505 | KCNJ1 | c.411C>A (p.Ala137=) c.468C>A (p.Ala156=) c.462C>A (p.Ala154=) | |
| 11 | g.128839834G>A | CA383245262 | KCNJ1 | c.410C>T (p.Ala137Val) c.467C>T (p.Ala156Val) c.461C>T (p.Ala154Val) | |
| 11 | g.128839834G>C | CA383245259 | KCNJ1 | c.410C>G (p.Ala137Gly) c.467C>G (p.Ala156Gly) c.461C>G (p.Ala154Gly) | |
| 11 | g.128839834G= | CA2008251192 | KCNJ1 | c.410C= (p.Ala137=) c.467C= (p.Ala156=) c.461C= (p.Ala154=) | |
| 11 | g.128839834G>T | CA383245258 | KCNJ1 | c.410C>A (p.Ala137Asp) c.467C>A (p.Ala156Asp) c.461C>A (p.Ala154Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.128839835C>A | CA383245268 | KCNJ1 | c.409G>T (p.Ala137Ser) c.466G>T (p.Ala156Ser) c.460G>T (p.Ala154Ser) | gnomAD v4 |
| 11 | g.128839835C>G | CA383245271 | KCNJ1 | c.409G>C (p.Ala137Pro) c.466G>C (p.Ala156Pro) c.460G>C (p.Ala154Pro) | |
| 11 | g.128839835C>T | CA383245274 | KCNJ1 | c.409G>A (p.Ala137Thr) c.466G>A (p.Ala156Thr) c.460G>A (p.Ala154Thr) | gnomAD v4 |
| 11 | g.128839836A>C | CA477703509 | KCNJ1 | c.408T>G (p.Thr136=) c.465T>G (p.Thr155=) c.459T>G (p.Thr153=) | |
| 11 | g.128839836A>G | CA477703510 | KCNJ1 | c.408T>C (p.Thr136=) c.465T>C (p.Thr155=) c.459T>C (p.Thr153=) | |
| 11 | g.128839836A>T | CA477703511 | KCNJ1 | c.408T>A (p.Thr136=) c.465T>A (p.Thr155=) c.459T>A (p.Thr153=) | |
| 11 | g.128839837G>A | CA383245276 | KCNJ1 | c.407C>T (p.Thr136Ile) c.464C>T (p.Thr155Ile) c.458C>T (p.Thr153Ile) | dbSNP |
| 11 | g.128839837G>C | CA383245277 | KCNJ1 | c.407C>G (p.Thr136Ser) c.464C>G (p.Thr155Ser) c.458C>G (p.Thr153Ser) | |
| 11 | g.128839837G= | CA2008251194 | KCNJ1 | c.407C= (p.Thr136=) c.464C= (p.Thr155=) c.458C= (p.Thr153=) | |
| 11 | g.128839837G>T | CA383245278 | KCNJ1 | c.407C>A (p.Thr136Asn) c.464C>A (p.Thr155Asn) c.458C>A (p.Thr153Asn) | |
| 11 | g.128839837_128839850delinsGTGGCACACTGTTC | CA2008251196 | KCNJ1 | c.394_407delinsGAACAGTGTGCCAC (p.Glu132=) c.451_464delinsGAACAGTGTGCCAC (p.Glu151=) c.445_458delinsGAACAGTGTGCCAC (p.Glu149=) | |
| 11 | g.128839838T>A | CA383245287 | KCNJ1 | c.406A>T (p.Thr136Ser) c.463A>T (p.Thr155Ser) c.457A>T (p.Thr153Ser) | |
| 11 | g.128839838T>C | CA383245281 | KCNJ1 | c.406A>G (p.Thr136Ala) c.463A>G (p.Thr155Ala) c.457A>G (p.Thr153Ala) | |
| 11 | g.128839838T>G | CA383245284 | KCNJ1 | c.406A>C (p.Thr136Pro) c.463A>C (p.Thr155Pro) c.457A>C (p.Thr153Pro) | gnomAD v4 |
| 11 | g.128839840_128839852del | CA2008251197 | KCNJ1 | c.394_406del (p.Glu132LeufsTer15) c.394_406del (p.Glu132LeufsTer?) c.451_463del (p.Glu151LeufsTer15) c.445_457del (p.Glu149LeufsTer15) | dbSNP |
| 11 | g.128839839G>A | CA477703512 | KCNJ1 | c.405C>T (p.Ala135=) c.462C>T (p.Ala154=) c.456C>T (p.Ala152=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839839G>C | CA477703513 | KCNJ1 | c.405C>G (p.Ala135=) c.462C>G (p.Ala154=) c.456C>G (p.Ala152=) | |
| 11 | g.128839839G= | CA2008251198 | KCNJ1 | c.405C= (p.Ala135=) c.462C= (p.Ala154=) c.456C= (p.Ala152=) | |
| 11 | g.128839839G>T | CA477703514 | KCNJ1 | c.405C>A (p.Ala135=) c.462C>A (p.Ala154=) c.456C>A (p.Ala152=) | |
| 11 | g.128839840G>A | CA383245291 | KCNJ1 | c.404C>T (p.Ala135Val) c.461C>T (p.Ala154Val) c.455C>T (p.Ala152Val) | gnomAD v4 |
| 11 | g.128839840G>C | CA383245292 | KCNJ1 | c.404C>G (p.Ala135Gly) c.461C>G (p.Ala154Gly) c.455C>G (p.Ala152Gly) | |
| 11 | g.128839840G>T | CA383245294 | KCNJ1 | c.404C>A (p.Ala135Asp) c.461C>A (p.Ala154Asp) c.455C>A (p.Ala152Asp) | |
| 11 | g.128839841C>A | CA383245297 | KCNJ1 | c.403G>T (p.Ala135Ser) c.460G>T (p.Ala154Ser) c.454G>T (p.Ala152Ser) | |
| 11 | g.128839841C>G | CA383245298 | KCNJ1 | c.403G>C (p.Ala135Pro) c.460G>C (p.Ala154Pro) c.454G>C (p.Ala152Pro) | |
| 11 | g.128839841C>T | CA383245301 | KCNJ1 | c.403G>A (p.Ala135Thr) c.460G>A (p.Ala154Thr) c.454G>A (p.Ala152Thr) | |
| 11 | g.128839842A>C | CA383245303 | KCNJ1 | c.402T>G (p.Cys134Trp) c.459T>G (p.Cys153Trp) c.453T>G (p.Cys151Trp) | |
| 11 | g.128839842A>G | CA477703515 | KCNJ1 | c.402T>C (p.Cys134=) c.459T>C (p.Cys153=) c.453T>C (p.Cys151=) | |
| 11 | g.128839842A>T | CA383245305 | KCNJ1 | c.402T>A (p.Cys134Ter) c.459T>A (p.Cys153Ter) c.453T>A (p.Cys151Ter) | |
| 11 | g.128839843C>A | CA383245310 | KCNJ1 | c.401G>T (p.Cys134Phe) c.458G>T (p.Cys153Phe) c.452G>T (p.Cys151Phe) | |
| 11 | g.128839843C>G | CA383245326 | KCNJ1 | c.401G>C (p.Cys134Ser) c.458G>C (p.Cys153Ser) c.452G>C (p.Cys151Ser) | gnomAD v4 |
| 11 | g.128839843C>T | CA383245323 | KCNJ1 | c.401G>A (p.Cys134Tyr) c.458G>A (p.Cys153Tyr) c.452G>A (p.Cys151Tyr) | gnomAD v4 |
| 11 | g.128839844A>C | CA383245329 | KCNJ1 | c.400T>G (p.Cys134Gly) c.457T>G (p.Cys153Gly) c.451T>G (p.Cys151Gly) | |
| 11 | g.128839844A>G | CA383245332 | KCNJ1 | c.400T>C (p.Cys134Arg) c.457T>C (p.Cys153Arg) c.451T>C (p.Cys151Arg) | gnomAD v4 |
| 11 | g.128839844A>T | CA383245335 | KCNJ1 | c.400T>A (p.Cys134Ser) c.457T>A (p.Cys153Ser) c.451T>A (p.Cys151Ser) | |
| 11 | g.128839844_128839845insTTGT | CA2616771385 | KCNJ1 | c.399_400insACAA (p.Cys134ThrfsTer?) c.456_457insACAA (p.Cys153ThrfsTer?) c.450_451insACAA (p.Cys151ThrfsTer?) | gnomAD v4 |
| 11 | g.128839845C>A | CA383245337 | KCNJ1 | c.399G>T (p.Gln133His) c.456G>T (p.Gln152His) c.450G>T (p.Gln150His) | |
| 11 | g.128839845C= | CA2008251201 | KCNJ1 | c.399G= (p.Gln133=) c.456G= (p.Gln152=) c.450G= (p.Gln150=) | |
| 11 | g.128839845C>G | CA383245340 | KCNJ1 | c.399G>C (p.Gln133His) c.456G>C (p.Gln152His) c.450G>C (p.Gln150His) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.128839845C>T | CA477703519 | KCNJ1 | c.399G>A (p.Gln133=) c.456G>A (p.Gln152=) c.450G>A (p.Gln150=) | gnomAD v4 |
| 11 | g.128839846T>A | CA383245346 | KCNJ1 | c.398A>T (p.Gln133Leu) c.455A>T (p.Gln152Leu) c.449A>T (p.Gln150Leu) | |
| 11 | g.128839846T>C | CA383245348 | KCNJ1 | c.398A>G (p.Gln133Arg) c.455A>G (p.Gln152Arg) c.449A>G (p.Gln150Arg) | |
| 11 | g.128839846T>G | CA383245352 | KCNJ1 | c.398A>C (p.Gln133Pro) c.455A>C (p.Gln152Pro) c.449A>C (p.Gln150Pro) | |
| 11 | g.128839847G>A | CA383245353 | KCNJ1 | c.397C>T (p.Gln133Ter) c.454C>T (p.Gln152Ter) c.448C>T (p.Gln150Ter) | gnomAD v4 |
| 11 | g.128839847G>C | CA383245354 | KCNJ1 | c.397C>G (p.Gln133Glu) c.454C>G (p.Gln152Glu) c.448C>G (p.Gln150Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.128839847G= | CA2008251202 | KCNJ1 | c.397C= (p.Gln133=) c.454C= (p.Gln152=) c.448C= (p.Gln150=) | |
| 11 | g.128839847G>T | CA383245365 | KCNJ1 | c.397C>A (p.Gln133Lys) c.454C>A (p.Gln152Lys) c.448C>A (p.Gln150Lys) | |
| 11 | g.128839848T>A | CA383245370 | KCNJ1 | c.396A>T (p.Glu132Asp) c.453A>T (p.Glu151Asp) c.447A>T (p.Glu149Asp) | |
| 11 | g.128839848T>C | CA477703524 | KCNJ1 | c.396A>G (p.Glu132=) c.453A>G (p.Glu151=) c.447A>G (p.Glu149=) | |
| 11 | g.128839848T>G | CA383245368 | KCNJ1 | c.396A>C (p.Glu132Asp) c.453A>C (p.Glu151Asp) c.447A>C (p.Glu149Asp) | |
| 11 | g.128839849T>A | CA383245372 | KCNJ1 | c.395A>T (p.Glu132Val) c.452A>T (p.Glu151Val) c.446A>T (p.Glu149Val) | |
| 11 | g.128839849T>C | CA383245373 | KCNJ1 | c.395A>G (p.Glu132Gly) c.452A>G (p.Glu151Gly) c.446A>G (p.Glu149Gly) | gnomAD v4 |
| 11 | g.128839849T>G | CA383245378 | KCNJ1 | c.395A>C (p.Glu132Ala) c.452A>C (p.Glu151Ala) c.446A>C (p.Glu149Ala) | |
| 11 | g.128839850C>A | CA383245382 | KCNJ1 | c.394G>T (p.Glu132Ter) c.451G>T (p.Glu151Ter) c.445G>T (p.Glu149Ter) | |
| 11 | g.128839850C>G | CA383245386 | KCNJ1 | c.394G>C (p.Glu132Gln) c.451G>C (p.Glu151Gln) c.445G>C (p.Glu149Gln) | |
| 11 | g.128839850C>T | CA383245387 | KCNJ1 | c.394G>A (p.Glu132Lys) c.451G>A (p.Glu151Lys) c.445G>A (p.Glu149Lys) | COSMIC |
| 11 | g.128839851T>A | CA477703530 | KCNJ1 | c.393A>T (p.Thr131=) c.450A>T (p.Thr150=) c.444A>T (p.Thr148=) | |
| 11 | g.128839851T>C | CA477703533 | KCNJ1 | c.393A>G (p.Thr131=) c.450A>G (p.Thr150=) c.444A>G (p.Thr148=) | |
| 11 | g.128839851T>G | CA477703532 | KCNJ1 | c.393A>C (p.Thr131=) c.450A>C (p.Thr150=) c.444A>C (p.Thr148=) | |
| 11 | g.128839852G>A | CA383245390 | KCNJ1 | c.392C>T (p.Thr131Ile) c.449C>T (p.Thr150Ile) c.443C>T (p.Thr148Ile) | |
| 11 | g.128839852G>C | CA6357528 | KCNJ1 | c.392C>G (p.Thr131Arg) c.449C>G (p.Thr150Arg) c.443C>G (p.Thr148Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839852G= | CA2008251205 | KCNJ1 | c.392C= (p.Thr131=) c.449C= (p.Thr150=) c.443C= (p.Thr148=) | |
| 11 | g.128839852G>T | CA383245393 | KCNJ1 | c.392C>A (p.Thr131Lys) c.449C>A (p.Thr150Lys) c.443C>A (p.Thr148Lys) | |
| 11 | g.128839853T>A | CA383245397 | KCNJ1 | c.391A>T (p.Thr131Ser) c.448A>T (p.Thr150Ser) c.442A>T (p.Thr148Ser) | |
| 11 | g.128839853T>C | CA383245399 | KCNJ1 | c.391A>G (p.Thr131Ala) c.448A>G (p.Thr150Ala) c.442A>G (p.Thr148Ala) | |
| 11 | g.128839853T>G | CA383245403 | KCNJ1 | c.391A>C (p.Thr131Pro) c.448A>C (p.Thr150Pro) c.442A>C (p.Thr148Pro) | |
| 11 | g.128839854C>A | CA477703535 | KCNJ1 | c.390G>T (p.Val130=) c.447G>T (p.Val149=) c.441G>T (p.Val147=) | |
| 11 | g.128839854C>G | CA477703536 | KCNJ1 | c.390G>C (p.Val130=) c.447G>C (p.Val149=) c.441G>C (p.Val147=) | |
| 11 | g.128839854C>T | CA477703537 | KCNJ1 | c.390G>A (p.Val130=) c.447G>A (p.Val149=) c.441G>A (p.Val147=) | |
| 11 | g.128839855A>C | CA383245411 | KCNJ1 | c.389T>G (p.Val130Gly) c.446T>G (p.Val149Gly) c.440T>G (p.Val147Gly) | |
| 11 | g.128839855A>G | CA383245412 | KCNJ1 | c.389T>C (p.Val130Ala) c.446T>C (p.Val149Ala) c.440T>C (p.Val147Ala) | |
| 11 | g.128839855A>T | CA383245408 | KCNJ1 | c.389T>A (p.Val130Glu) c.446T>A (p.Val149Glu) c.440T>A (p.Val147Glu) | |
| 11 | g.128839855_128839856insGTGTTCAGG | CA2695215887 | KCNJ1 | c.388_389insCCTGAACAC (p.Val130AlafsTer2) c.445_446insCCTGAACAC (p.Val149AlafsTer2) c.439_440insCCTGAACAC (p.Val147AlafsTer2) | |
| 11 | g.128839856C>A | CA383245413 | KCNJ1 | c.388G>T (p.Val130Leu) c.445G>T (p.Val149Leu) c.439G>T (p.Val147Leu) | gnomAD v4 |
| 11 | g.128839856C>G | CA383245414 | KCNJ1 | c.388G>C (p.Val130Leu) c.445G>C (p.Val149Leu) c.439G>C (p.Val147Leu) | |
| 11 | g.128839856C>T | CA383245415 | KCNJ1 | c.388G>A (p.Val130Met) c.445G>A (p.Val149Met) c.439G>A (p.Val147Met) | |
| 11 | g.128839857A>C | CA383245418 | KCNJ1 | c.387T>G (p.Cys129Trp) c.444T>G (p.Cys148Trp) c.438T>G (p.Cys146Trp) | |
| 11 | g.128839857A>G | CA477703542 | KCNJ1 | c.387T>C (p.Cys129=) c.444T>C (p.Cys148=) c.438T>C (p.Cys146=) | |
| 11 | g.128839857A>T | CA383245440 | KCNJ1 | c.387T>A (p.Cys129Ter) c.444T>A (p.Cys148Ter) c.438T>A (p.Cys146Ter) | |
| 11 | g.128839858C>A | CA383245448 | KCNJ1 | c.386G>T (p.Cys129Phe) c.443G>T (p.Cys148Phe) c.437G>T (p.Cys146Phe) | |
| 11 | g.128839858C= | CA2008251212 | KCNJ1 | c.386G= (p.Cys129=) c.443G= (p.Cys148=) c.437G= (p.Cys146=) | |
| 11 | g.128839858C>G | CA383245451 | KCNJ1 | c.386G>C (p.Cys129Ser) c.443G>C (p.Cys148Ser) c.437G>C (p.Cys146Ser) | |
| 11 | g.128839858C>T | CA383245458 | KCNJ1 | c.386G>A (p.Cys129Tyr) c.443G>A (p.Cys148Tyr) c.437G>A (p.Cys146Tyr) | dbSNP |
| 11 | g.128839859A>C | CA383245462 | KCNJ1 | c.385T>G (p.Cys129Gly) c.442T>G (p.Cys148Gly) c.436T>G (p.Cys146Gly) | |
| 11 | g.128839859A>G | CA383245466 | KCNJ1 | c.385T>C (p.Cys129Arg) c.442T>C (p.Cys148Arg) c.436T>C (p.Cys146Arg) | gnomAD v4 |
| 11 | g.128839859A>T | CA383245470 | KCNJ1 | c.385T>A (p.Cys129Ser) c.442T>A (p.Cys148Ser) c.436T>A (p.Cys146Ser) | |
| 11 | g.128839860C>A | CA383245475 | KCNJ1 | c.384G>T (p.Arg128Ser) c.441G>T (p.Arg147Ser) c.435G>T (p.Arg145Ser) | |
| 11 | g.128839860C>G | CA383245478 | KCNJ1 | c.384G>C (p.Arg128Ser) c.441G>C (p.Arg147Ser) c.435G>C (p.Arg145Ser) | |
| 11 | g.128839860C>T | CA477703549 | KCNJ1 | c.384G>A (p.Arg128=) c.441G>A (p.Arg147=) c.435G>A (p.Arg145=) | |
| 11 | g.128839861C>A | CA383245483 | KCNJ1 | c.383G>T (p.Arg128Met) c.440G>T (p.Arg147Met) c.434G>T (p.Arg145Met) | |
| 11 | g.128839861C>G | CA383245480 | KCNJ1 | c.383G>C (p.Arg128Thr) c.440G>C (p.Arg147Thr) c.434G>C (p.Arg145Thr) | |
| 11 | g.128839861C>T | CA383245479 | KCNJ1 | c.383G>A (p.Arg128Lys) c.440G>A (p.Arg147Lys) c.434G>A (p.Arg145Lys) | gnomAD v4 |
| 11 | g.128839862T>A | CA383245485 | KCNJ1 | c.382A>T (p.Arg128Trp) c.439A>T (p.Arg147Trp) c.433A>T (p.Arg145Trp) | |
| 11 | g.128839862T>C | CA383245487 | KCNJ1 | c.382A>G (p.Arg128Gly) c.439A>G (p.Arg147Gly) c.433A>G (p.Arg145Gly) | |
| 11 | g.128839862T>G | CA477703553 | KCNJ1 | c.382A>C (p.Arg128=) c.439A>C (p.Arg147=) c.433A>C (p.Arg145=) | |
| 11 | g.128839863G>A | CA477703554 | KCNJ1 | c.381C>T (p.Phe127=) c.438C>T (p.Phe146=) c.432C>T (p.Phe144=) | |
| 11 | g.128839863G>C | CA383245490 | KCNJ1 | c.381C>G (p.Phe127Leu) c.438C>G (p.Phe146Leu) c.432C>G (p.Phe144Leu) | |
| 11 | g.128839863G>T | CA383245492 | KCNJ1 | c.381C>A (p.Phe127Leu) c.438C>A (p.Phe146Leu) c.432C>A (p.Phe144Leu) | gnomAD v4 |
| 11 | g.128839864A>C | CA383245495 | KCNJ1 | c.380T>G (p.Phe127Cys) c.437T>G (p.Phe146Cys) c.431T>G (p.Phe144Cys) | |
| 11 | g.128839864A>G | CA383245500 | KCNJ1 | c.380T>C (p.Phe127Ser) c.437T>C (p.Phe146Ser) c.431T>C (p.Phe144Ser) | |
| 11 | g.128839864A>T | CA383245503 | KCNJ1 | c.380T>A (p.Phe127Tyr) c.437T>A (p.Phe146Tyr) c.431T>A (p.Phe144Tyr) | |
| 11 | g.128839865A>C | CA383245513 | KCNJ1 | c.379T>G (p.Phe127Val) c.436T>G (p.Phe146Val) c.430T>G (p.Phe144Val) | |
| 11 | g.128839865A>G | CA383245515 | KCNJ1 | c.379T>C (p.Phe127Leu) c.436T>C (p.Phe146Leu) c.430T>C (p.Phe144Leu) | |
| 11 | g.128839865A>T | CA383245522 | KCNJ1 | c.379T>A (p.Phe127Ile) c.436T>A (p.Phe146Ile) c.430T>A (p.Phe144Ile) | |
| 11 | g.128839866T>A | CA477703559 | KCNJ1 | c.378A>T (p.Gly126=) c.435A>T (p.Gly145=) c.429A>T (p.Gly143=) | |
| 11 | g.128839866T>C | CA477703558 | KCNJ1 | c.378A>G (p.Gly126=) c.435A>G (p.Gly145=) c.429A>G (p.Gly143=) | |
| 11 | g.128839866T>G | CA477703557 | KCNJ1 | c.378A>C (p.Gly126=) c.435A>C (p.Gly145=) c.429A>C (p.Gly143=) | |
| 11 | g.128839867C>A | CA383245526 | KCNJ1 | c.377G>T (p.Gly126Val) c.434G>T (p.Gly145Val) c.428G>T (p.Gly143Val) | |
| 11 | g.128839867C>G | CA383245531 | KCNJ1 | c.377G>C (p.Gly126Ala) c.434G>C (p.Gly145Ala) c.428G>C (p.Gly143Ala) | |
| 11 | g.128839867C>T | CA383245536 | KCNJ1 | c.377G>A (p.Gly126Glu) c.434G>A (p.Gly145Glu) c.428G>A (p.Gly143Glu) | |
| 11 | g.128839868C>A | CA383245548 | KCNJ1 | c.376G>T (p.Gly126Ter) c.433G>T (p.Gly145Ter) c.427G>T (p.Gly143Ter) | gnomAD v4 |
| 11 | g.128839868C= | CA2008251221 | KCNJ1 | c.376G= (p.Gly126=) c.433G= (p.Gly145=) c.427G= (p.Gly143=) | |
| 11 | g.128839868C>G | CA383245544 | KCNJ1 | c.376G>C (p.Gly126Arg) c.433G>C (p.Gly145Arg) c.427G>C (p.Gly143Arg) | gnomAD v4 |
| 11 | g.128839868C>T | CA383245541 | KCNJ1 | c.376G>A (p.Gly126Arg) c.433G>A (p.Gly145Arg) c.427G>A (p.Gly143Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.128839869A>C | CA383245553 | KCNJ1 | c.375T>G (p.Tyr125Ter) c.432T>G (p.Tyr144Ter) c.426T>G (p.Tyr142Ter) | |
| 11 | g.128839869A>G | CA477703563 | KCNJ1 | c.375T>C (p.Tyr125=) c.432T>C (p.Tyr144=) c.426T>C (p.Tyr142=) | |
| 11 | g.128839869A>T | CA383245555 | KCNJ1 | c.375T>A (p.Tyr125Ter) c.432T>A (p.Tyr144Ter) c.426T>A (p.Tyr142Ter) | |
| 11 | g.128839870T>A | CA383245560 | KCNJ1 | c.374A>T (p.Tyr125Phe) c.431A>T (p.Tyr144Phe) c.425A>T (p.Tyr142Phe) | gnomAD v4 |
| 11 | g.128839870T>C | CA383245566 | KCNJ1 | c.374A>G (p.Tyr125Cys) c.431A>G (p.Tyr144Cys) c.425A>G (p.Tyr142Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.128839870T>G | CA383245564 | KCNJ1 | c.374A>C (p.Tyr125Ser) c.431A>C (p.Tyr144Ser) c.425A>C (p.Tyr142Ser) | |
| 11 | g.128839870T= | CA2008251228 | KCNJ1 | c.374A= (p.Tyr125=) c.431A= (p.Tyr144=) c.425A= (p.Tyr142=) | |
| 11 | g.128839871A>C | CA383245570 | KCNJ1 | c.373T>G (p.Tyr125Asp) c.430T>G (p.Tyr144Asp) c.424T>G (p.Tyr142Asp) | |
| 11 | g.128839871A>G | CA383245579 | KCNJ1 | c.373T>C (p.Tyr125His) c.430T>C (p.Tyr144His) c.424T>C (p.Tyr142His) | |
| 11 | g.128839871A>T | CA383245581 | KCNJ1 | c.373T>A (p.Tyr125Asn) c.430T>A (p.Tyr144Asn) c.424T>A (p.Tyr142Asn) | |
| 11 | g.128839872T>A | CA477703565 | KCNJ1 | c.372A>T (p.Gly124=) c.429A>T (p.Gly143=) c.423A>T (p.Gly141=) | |
| 11 | g.128839872T>C | CA477703566 | KCNJ1 | c.372A>G (p.Gly124=) c.429A>G (p.Gly143=) c.423A>G (p.Gly141=) | |
| 11 | g.128839872T>G | CA477703567 | KCNJ1 | c.372A>C (p.Gly124=) c.429A>C (p.Gly143=) c.423A>C (p.Gly141=) | |
| 11 | g.128839873C>A | CA383245598 | KCNJ1 | c.371G>T (p.Gly124Val) c.428G>T (p.Gly143Val) c.422G>T (p.Gly141Val) | |
| 11 | g.128839873C= | CA2008251232 | KCNJ1 | c.371G= (p.Gly124=) c.428G= (p.Gly143=) c.422G= (p.Gly141=) | |
| 11 | g.128839873C>G | CA230628737 | KCNJ1 | c.371G>C (p.Gly124Ala) c.428G>C (p.Gly143Ala) c.422G>C (p.Gly141Ala) | dbSNP |
| 11 | g.128839873C>T | CA383245605 | KCNJ1 | c.371G>A (p.Gly124Glu) c.428G>A (p.Gly143Glu) c.422G>A (p.Gly141Glu) | |
| 11 | g.128839874C>A | CA383245611 | KCNJ1 | c.370G>T (p.Gly124Ter) c.427G>T (p.Gly143Ter) c.421G>T (p.Gly141Ter) | COSMIC |
| 11 | g.128839874C>G | CA383245615 | KCNJ1 | c.370G>C (p.Gly124Arg) c.427G>C (p.Gly143Arg) c.421G>C (p.Gly141Arg) | |
| 11 | g.128839874C>T | CA383245618 | KCNJ1 | c.370G>A (p.Gly124Arg) c.427G>A (p.Gly143Arg) c.421G>A (p.Gly141Arg) | |
| 11 | g.128839875A>C | CA383245622 | KCNJ1 | c.369T>G (p.Ile123Met) c.426T>G (p.Ile142Met) c.420T>G (p.Ile140Met) | |
| 11 | g.128839875A>G | CA477703570 | KCNJ1 | c.369T>C (p.Ile123=) c.426T>C (p.Ile142=) c.420T>C (p.Ile140=) | |
| 11 | g.128839875A>T | CA477703571 | KCNJ1 | c.369T>A (p.Ile123=) c.426T>A (p.Ile142=) c.420T>A (p.Ile140=) | |
| 11 | g.128839876A>C | CA383245623 | KCNJ1 | c.368T>G (p.Ile123Ser) c.425T>G (p.Ile142Ser) c.419T>G (p.Ile140Ser) | |
| 11 | g.128839876A>G | CA383245624 | KCNJ1 | c.368T>C (p.Ile123Thr) c.425T>C (p.Ile142Thr) c.419T>C (p.Ile140Thr) | |
| 11 | g.128839876A>T | CA383245625 | KCNJ1 | c.368T>A (p.Ile123Asn) c.425T>A (p.Ile142Asn) c.419T>A (p.Ile140Asn) | |
| 11 | g.128839877T>A | CA383245628 | KCNJ1 | c.367A>T (p.Ile123Phe) c.424A>T (p.Ile142Phe) c.418A>T (p.Ile140Phe) | |
| 11 | g.128839877T>C | CA383245635 | KCNJ1 | c.367A>G (p.Ile123Val) c.424A>G (p.Ile142Val) c.418A>G (p.Ile140Val) | |
| 11 | g.128839877T>G | CA383245632 | KCNJ1 | c.367A>C (p.Ile123Leu) c.424A>C (p.Ile142Leu) c.418A>C (p.Ile140Leu) | |
| 11 | g.128839878G>A | CA477703573 | KCNJ1 | c.366C>T (p.Thr122=) c.423C>T (p.Thr141=) c.417C>T (p.Thr139=) | |
| 11 | g.128839878G>C | CA477703575 | KCNJ1 | c.366C>G (p.Thr122=) c.423C>G (p.Thr141=) c.417C>G (p.Thr139=) | |
| 11 | g.128839878G>T | CA477703577 | KCNJ1 | c.366C>A (p.Thr122=) c.423C>A (p.Thr141=) c.417C>A (p.Thr139=) | |
| 11 | g.128839879G>A | CA6357529 | KCNJ1 | c.365C>T (p.Thr122Ile) c.422C>T (p.Thr141Ile) c.416C>T (p.Thr139Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.128839879G>C | CA383245645 | KCNJ1 | c.365C>G (p.Thr122Ser) c.422C>G (p.Thr141Ser) c.416C>G (p.Thr139Ser) | |
| 11 | g.128839879G= | CA2008251236 | KCNJ1 | c.365C= (p.Thr122=) c.422C= (p.Thr141=) c.416C= (p.Thr139=) | |
| 11 | g.128839879G>T | CA383245648 | KCNJ1 | c.365C>A (p.Thr122Asn) c.422C>A (p.Thr141Asn) c.416C>A (p.Thr139Asn) | |
| 11 | g.128839880T>A | CA383245657 | KCNJ1 | c.364A>T (p.Thr122Ser) c.421A>T (p.Thr141Ser) c.415A>T (p.Thr139Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839880T>C | CA383245658 | KCNJ1 | c.364A>G (p.Thr122Ala) c.421A>G (p.Thr141Ala) c.415A>G (p.Thr139Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.128839880T>G | CA383245659 | KCNJ1 | c.364A>C (p.Thr122Pro) c.421A>C (p.Thr141Pro) c.415A>C (p.Thr139Pro) | |
| 11 | g.128839880T= | CA2008251238 | KCNJ1 | c.364A= (p.Thr122=) c.421A= (p.Thr141=) c.415A= (p.Thr139=) | |
| 11 | g.128839881C>A | CA477703580 | KCNJ1 | c.363G>T (p.Val121=) c.420G>T (p.Val140=) c.414G>T (p.Val138=) | |
| 11 | g.128839881C= | CA2008251240 | KCNJ1 | c.363G= (p.Val121=) c.420G= (p.Val140=) c.414G= (p.Val138=) | |
| 11 | g.128839881C>G | CA477703581 | KCNJ1 | c.363G>C (p.Val121=) c.420G>C (p.Val140=) c.414G>C (p.Val138=) | |
| 11 | g.128839881C>T | CA6357530 | KCNJ1 | c.363G>A (p.Val121=) c.420G>A (p.Val140=) c.414G>A (p.Val138=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839882A>C | CA383245663 | KCNJ1 | c.362T>G (p.Val121Gly) c.419T>G (p.Val140Gly) c.413T>G (p.Val138Gly) | |
| 11 | g.128839882A>G | CA383245668 | KCNJ1 | c.362T>C (p.Val121Ala) c.419T>C (p.Val140Ala) c.413T>C (p.Val138Ala) | |
| 11 | g.128839882A>T | CA383245671 | KCNJ1 | c.362T>A (p.Val121Glu) c.419T>A (p.Val140Glu) c.413T>A (p.Val138Glu) | |
| 11 | g.128839883C>A | CA383245678 | KCNJ1 | c.361G>T (p.Val121Leu) c.418G>T (p.Val140Leu) c.412G>T (p.Val138Leu) | gnomAD v4 |
| 11 | g.128839883C= | CA2008251252 | KCNJ1 | c.361G= (p.Val121=) c.418G= (p.Val140=) c.412G= (p.Val138=) | |
| 11 | g.128839883C>G | CA383245677 | KCNJ1 | c.361G>C (p.Val121Leu) c.418G>C (p.Val140Leu) c.412G>C (p.Val138Leu) | |
| 11 | g.128839883C>T | CA383245675 | KCNJ1 | c.361G>A (p.Val121Met) c.418G>A (p.Val140Met) c.412G>A (p.Val138Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.128839884T>A | CA383245682 | KCNJ1 | c.360A>T (p.Gln120His) c.417A>T (p.Gln139His) c.411A>T (p.Gln137His) | |
| 11 | g.128839884T>C | CA477703583 | KCNJ1 | c.360A>G (p.Gln120=) c.417A>G (p.Gln139=) c.411A>G (p.Gln137=) | |
| 11 | g.128839884T>G | CA383245685 | KCNJ1 | c.360A>C (p.Gln120His) c.417A>C (p.Gln139His) c.411A>C (p.Gln137His) | |
| 11 | g.128839885T>A | CA383245690 | KCNJ1 | c.359A>T (p.Gln120Leu) c.416A>T (p.Gln139Leu) c.410A>T (p.Gln137Leu) | |
| 11 | g.128839885T>C | CA383245693 | KCNJ1 | c.359A>G (p.Gln120Arg) c.416A>G (p.Gln139Arg) c.410A>G (p.Gln137Arg) | |
| 11 | g.128839885T>G | CA383245696 | KCNJ1 | c.359A>C (p.Gln120Pro) c.416A>C (p.Gln139Pro) c.410A>C (p.Gln137Pro) | |
| 11 | g.128839886G>A | CA383245699 | KCNJ1 | c.358C>T (p.Gln120Ter) c.415C>T (p.Gln139Ter) c.409C>T (p.Gln137Ter) | |
| 11 | g.128839886G>C | CA383245701 | KCNJ1 | c.358C>G (p.Gln120Glu) c.415C>G (p.Gln139Glu) c.409C>G (p.Gln137Glu) | |
| 11 | g.128839886G>T | CA383245709 | KCNJ1 | c.358C>A (p.Gln120Lys) c.415C>A (p.Gln139Lys) c.409C>A (p.Gln137Lys) | |
| 11 | g.128839887A>C | CA477703585 | KCNJ1 | c.357T>G (p.Thr119=) c.414T>G (p.Thr138=) c.408T>G (p.Thr136=) | |
| 11 | g.128839887A>G | CA477703586 | KCNJ1 | c.357T>C (p.Thr119=) c.414T>C (p.Thr138=) c.408T>C (p.Thr136=) | gnomAD v4 |
| 11 | g.128839887A>T | CA477703587 | KCNJ1 | c.357T>A (p.Thr119=) c.414T>A (p.Thr138=) c.408T>A (p.Thr136=) | |
| 11 | g.128839888G>A | CA383245714 | KCNJ1 | c.356C>T (p.Thr119Ile) c.413C>T (p.Thr138Ile) c.407C>T (p.Thr136Ile) | |
| 11 | g.128839888G>C | CA383245715 | KCNJ1 | c.356C>G (p.Thr119Ser) c.413C>G (p.Thr138Ser) c.407C>G (p.Thr136Ser) | |
| 11 | g.128839888G>T | CA383245718 | KCNJ1 | c.356C>A (p.Thr119Asn) c.413C>A (p.Thr138Asn) c.407C>A (p.Thr136Asn) | |
| 11 | g.128839889T>A | CA383245719 | KCNJ1 | c.355A>T (p.Thr119Ser) c.412A>T (p.Thr138Ser) c.406A>T (p.Thr136Ser) | |
| 11 | g.128839889T>C | CA383245720 | KCNJ1 | c.355A>G (p.Thr119Ala) c.412A>G (p.Thr138Ala) c.406A>G (p.Thr136Ala) | |
| 11 | g.128839889T>G | CA383245724 | KCNJ1 | c.355A>C (p.Thr119Pro) c.412A>C (p.Thr138Pro) c.406A>C (p.Thr136Pro) | |
| 11 | g.128839890C>A | CA383245729 | KCNJ1 | c.354G>T (p.Glu118Asp) c.411G>T (p.Glu137Asp) c.405G>T (p.Glu135Asp) | ClinVar dbSNP |
| 11 | g.128839890C= | CA2008251260 | KCNJ1 | c.354G= (p.Glu118=) c.411G= (p.Glu137=) c.405G= (p.Glu135=) | |
| 11 | g.128839890C>G | CA383245731 | KCNJ1 | c.354G>C (p.Glu118Asp) c.411G>C (p.Glu137Asp) c.405G>C (p.Glu135Asp) | |
| 11 | g.128839890C>T | CA477703592 | KCNJ1 | c.354G>A (p.Glu118=) c.411G>A (p.Glu137=) c.405G>A (p.Glu135=) | |
| 11 | g.128839891T>A | CA383245736 | KCNJ1 | c.353A>T (p.Glu118Val) c.410A>T (p.Glu137Val) c.404A>T (p.Glu135Val) | |
| 11 | g.128839891T>C | CA383245737 | KCNJ1 | c.353A>G (p.Glu118Gly) c.410A>G (p.Glu137Gly) c.404A>G (p.Glu135Gly) | |
| 11 | g.128839891T>G | CA383245742 | KCNJ1 | c.353A>C (p.Glu118Ala) c.410A>C (p.Glu137Ala) c.404A>C (p.Glu135Ala) | |
| 11 | g.128839892C>A | CA383245746 | KCNJ1 | c.352G>T (p.Glu118Ter) c.409G>T (p.Glu137Ter) c.403G>T (p.Glu135Ter) | |
| 11 | g.128839892C>G | CA383245749 | KCNJ1 | c.352G>C (p.Glu118Gln) c.409G>C (p.Glu137Gln) c.403G>C (p.Glu135Gln) | |
| 11 | g.128839892C>T | CA383245750 | KCNJ1 | c.352G>A (p.Glu118Lys) c.409G>A (p.Glu137Lys) c.403G>A (p.Glu135Lys) | |
| 11 | g.128839893C>A | CA477703594 | KCNJ1 | c.351G>T (p.Leu117=) c.408G>T (p.Leu136=) c.402G>T (p.Leu134=) | |
| 11 | g.128839893C>G | CA477703595 | KCNJ1 | c.351G>C (p.Leu117=) c.408G>C (p.Leu136=) c.402G>C (p.Leu134=) | |
| 11 | g.128839893C>T | CA477703596 | KCNJ1 | c.351G>A (p.Leu117=) c.408G>A (p.Leu136=) c.402G>A (p.Leu134=) | |
| 11 | g.128839894A>C | CA383245751 | KCNJ1 | c.350T>G (p.Leu117Arg) c.407T>G (p.Leu136Arg) c.401T>G (p.Leu134Arg) | |
| 11 | g.128839894A>G | CA383245753 | KCNJ1 | c.350T>C (p.Leu117Pro) c.407T>C (p.Leu136Pro) c.401T>C (p.Leu134Pro) | |
| 11 | g.128839894A>T | CA383245754 | KCNJ1 | c.350T>A (p.Leu117Gln) c.407T>A (p.Leu136Gln) c.401T>A (p.Leu134Gln) | |
| 11 | g.128839895G>A | CA477703597 | KCNJ1 | c.349C>T (p.Leu117=) c.406C>T (p.Leu136=) c.400C>T (p.Leu134=) | ClinVar gnomAD v4 |
| 11 | g.128839895G>C | CA383245755 | KCNJ1 | c.349C>G (p.Leu117Val) c.406C>G (p.Leu136Val) c.400C>G (p.Leu134Val) | |
| 11 | g.128839895G>T | CA383245756 | KCNJ1 | c.349C>A (p.Leu117Met) c.406C>A (p.Leu136Met) c.400C>A (p.Leu134Met) | |
| 11 | g.128839896A>C | CA477703598 | KCNJ1 | c.348T>G (p.Ser116=) c.405T>G (p.Ser135=) c.399T>G (p.Ser133=) | |
| 11 | g.128839896A>G | CA477703599 | KCNJ1 | c.348T>C (p.Ser116=) c.405T>C (p.Ser135=) c.399T>C (p.Ser133=) | |
| 11 | g.128839896A>T | CA477703600 | KCNJ1 | c.348T>A (p.Ser116=) c.405T>A (p.Ser135=) c.399T>A (p.Ser133=) | |
| 11 | g.128839897G>A | CA383245760 | KCNJ1 | c.347C>T (p.Ser116Phe) c.404C>T (p.Ser135Phe) c.398C>T (p.Ser133Phe) | |
| 11 | g.128839897G>C | CA383245759 | KCNJ1 | c.347C>G (p.Ser116Cys) c.404C>G (p.Ser135Cys) c.398C>G (p.Ser133Cys) | |
| 11 | g.128839897G>T | CA383245758 | KCNJ1 | c.347C>A (p.Ser116Tyr) c.404C>A (p.Ser135Tyr) c.398C>A (p.Ser133Tyr) | |
| 11 | g.128839898A>C | CA383245762 | KCNJ1 | c.346T>G (p.Ser116Ala) c.403T>G (p.Ser135Ala) c.397T>G (p.Ser133Ala) | |
| 11 | g.128839898A>G | CA383245764 | KCNJ1 | c.346T>C (p.Ser116Pro) c.403T>C (p.Ser135Pro) c.397T>C (p.Ser133Pro) | |
| 11 | g.128839898A>T | CA383245766 | KCNJ1 | c.346T>A (p.Ser116Thr) c.403T>A (p.Ser135Thr) c.397T>A (p.Ser133Thr) | |
| 11 | g.128839899A>C | CA383245775 | KCNJ1 | c.345T>G (p.Phe115Leu) c.402T>G (p.Phe134Leu) c.396T>G (p.Phe132Leu) | |
| 11 | g.128839899A>G | CA477703601 | KCNJ1 | c.345T>C (p.Phe115=) c.402T>C (p.Phe134=) c.396T>C (p.Phe132=) | |
| 11 | g.128839899A>T | CA383245778 | KCNJ1 | c.345T>A (p.Phe115Leu) c.402T>A (p.Phe134Leu) c.396T>A (p.Phe132Leu) | |
| 11 | g.128839900A>C | CA383245785 | KCNJ1 | c.344T>G (p.Phe115Cys) c.401T>G (p.Phe134Cys) c.395T>G (p.Phe132Cys) | |
| 11 | g.128839900A>G | CA383245791 | KCNJ1 | c.344T>C (p.Phe115Ser) c.401T>C (p.Phe134Ser) c.395T>C (p.Phe132Ser) | |
| 11 | g.128839900A>T | CA383245795 | KCNJ1 | c.344T>A (p.Phe115Tyr) c.401T>A (p.Phe134Tyr) c.395T>A (p.Phe132Tyr) | |
| 11 | g.128839901A>C | CA383245803 | KCNJ1 | c.343T>G (p.Phe115Val) c.400T>G (p.Phe134Val) c.394T>G (p.Phe132Val) | |
| 11 | g.128839901A>G | CA383245806 | KCNJ1 | c.343T>C (p.Phe115Leu) c.400T>C (p.Phe134Leu) c.394T>C (p.Phe132Leu) | |
| 11 | g.128839901A>T | CA383245815 | KCNJ1 | c.343T>A (p.Phe115Ile) c.400T>A (p.Phe134Ile) c.394T>A (p.Phe132Ile) |