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 |
|---|---|---|---|---|---|
| 17 | g.1650882T>A | CA397562022 | PRPF8 | c.6748A>T (p.Arg2250Trp) c.2676A>T c.*6651A>T (n.*6651A>T) n.3242A>T c.6781A>T (p.Arg2261Trp) c.6793A>T (p.Arg2265Trp) c.6928A>T (p.Arg2310Trp) c.163-36A>T n.917A>T | |
| 17 | g.1650882T>C | CA397562024 | PRPF8 | c.6748A>G (p.Arg2250Gly) c.2676A>G c.*6651A>G (n.*6651A>G) n.3242A>G c.6781A>G (p.Arg2261Gly) c.6793A>G (p.Arg2265Gly) c.6928A>G (p.Arg2310Gly) c.163-36A>G n.917A>G | ClinVar dbSNP |
| 17 | g.1650882T>G | CA8271045 | PRPF8 | c.6748A>C (p.Arg2250=) c.2676A>C c.*6651A>C (n.*6651A>C) n.3242A>C c.6781A>C (p.Arg2261=) c.6793A>C (p.Arg2265=) c.6928A>C (p.Arg2310=) c.163-36A>C n.917A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650882T= | CA2242977333 | PRPF8 | c.6748A= (p.Arg2250=) c.2676A= c.*6651A= (n.*6651A=) n.3242A= c.6781A= (p.Arg2261=) c.6793A= (p.Arg2265=) c.6928A= (p.Arg2310=) c.163-36A= n.917A= | |
| 17 | g.1650883G>A | CA497291625 | PRPF8 | c.6747C>T (p.His2249=) c.2675C>T c.*6650C>T (n.*6650C>T) n.3241C>T c.6780C>T (p.His2260=) c.6792C>T (p.His2264=) c.6927C>T (p.His2309=) c.163-37C>T n.916C>T | gnomAD v4 |
| 17 | g.1650883G>C | CA397562030 | PRPF8 | c.6747C>G (p.His2249Gln) c.2675C>G c.*6650C>G (n.*6650C>G) n.3241C>G c.6780C>G (p.His2260Gln) c.6792C>G (p.His2264Gln) c.6927C>G (p.His2309Gln) c.163-37C>G n.916C>G | gnomAD v4 |
| 17 | g.1650883G>T | CA397562033 | PRPF8 | c.6747C>A (p.His2249Gln) c.2675C>A c.*6650C>A (n.*6650C>A) n.3241C>A c.6780C>A (p.His2260Gln) c.6792C>A (p.His2264Gln) c.6927C>A (p.His2309Gln) c.163-37C>A n.916C>A | |
| 17 | g.1650883_1650886delinsT | CA2695224075 | PRPF8 | c.6744_6747delinsA (p.His2249del) c.2672_2675delinsA c.*6647_*6650delinsA (n.*6647_*6650delinsA) n.3238_3241delinsA c.6777_6780delinsA (p.His2260del) c.6789_6792delinsA (p.His2264del) c.6924_6927delinsA (p.His2309del) c.163-40_163-37delinsA n.913_916delinsA | |
| 17 | g.1650884T>A | CA397562042 | PRPF8 | c.6746A>T (p.His2249Leu) c.2674A>T c.*6649A>T (n.*6649A>T) n.3240A>T c.6779A>T (p.His2260Leu) c.6791A>T (p.His2264Leu) c.6926A>T (p.His2309Leu) c.163-38A>T n.915A>T | ClinVar dbSNP |
| 17 | g.1650884T>C | CA252740 | PRPF8 | c.6746A>G (p.His2249Arg) c.2674A>G c.*6649A>G (n.*6649A>G) n.3240A>G c.6779A>G (p.His2260Arg) c.6791A>G (p.His2264Arg) c.6926A>G (p.His2309Arg) c.163-38A>G n.915A>G | ClinVar dbSNP |
| 17 | g.1650884T>G | CA252741 | PRPF8 | c.6746A>C (p.His2249Pro) c.2674A>C c.*6649A>C (n.*6649A>C) n.3240A>C c.6779A>C (p.His2260Pro) c.6791A>C (p.His2264Pro) c.6926A>C (p.His2309Pro) c.163-38A>C n.915A>C | ClinVar dbSNP |
| 17 | g.1650884T= | CA2242977340 | PRPF8 | c.6746A= (p.His2249=) c.2674A= c.*6649A= (n.*6649A=) n.3240A= c.6779A= (p.His2260=) c.6791A= (p.His2264=) c.6926A= (p.His2309=) c.163-38A= n.915A= | |
| 17 | g.1650884_1650896del | CA2635248591 | PRPF8 | c.6734_6746del (p.Tyr2245SerfsTer?) c.2662_2674del c.*6637_*6649del (n.*6637_*6649del) n.3228_3240del c.6767_6779del (p.Tyr2256SerfsTer?) c.6779_6791del (p.Tyr2260SerfsTer?) c.6914_6926del (p.Tyr2305SerfsTer?) c.163-50_163-38del n.903_915del | gnomAD v4 |
| 17 | g.1650885G>A | CA397562047 | PRPF8 | c.6745C>T (p.His2249Tyr) c.2673C>T c.*6648C>T (n.*6648C>T) n.3239C>T c.6778C>T (p.His2260Tyr) c.6790C>T (p.His2264Tyr) c.6925C>T (p.His2309Tyr) c.163-39C>T n.914C>T | |
| 17 | g.1650885G>C | CA397562049 | PRPF8 | c.6745C>G (p.His2249Asp) c.2673C>G c.*6648C>G (n.*6648C>G) n.3239C>G c.6778C>G (p.His2260Asp) c.6790C>G (p.His2264Asp) c.6925C>G (p.His2309Asp) c.163-39C>G n.914C>G | ClinVar dbSNP |
| 17 | g.1650885G>T | CA397562053 | PRPF8 | c.6745C>A (p.His2249Asn) c.2673C>A c.*6648C>A (n.*6648C>A) n.3239C>A c.6778C>A (p.His2260Asn) c.6790C>A (p.His2264Asn) c.6925C>A (p.His2309Asn) c.163-39C>A n.914C>A | |
| 17 | g.1650886C>A | CA497291640 | PRPF8 | c.6744G>T (p.Val2248=) c.2672G>T c.*6647G>T (n.*6647G>T) n.3238G>T c.6777G>T (p.Val2259=) c.6789G>T (p.Val2263=) c.6924G>T (p.Val2308=) c.163-40G>T n.913G>T | |
| 17 | g.1650886C>G | CA497291641 | PRPF8 | c.6744G>C (p.Val2248=) c.2672G>C c.*6647G>C (n.*6647G>C) n.3238G>C c.6777G>C (p.Val2259=) c.6789G>C (p.Val2263=) c.6924G>C (p.Val2308=) c.163-40G>C n.913G>C | |
| 17 | g.1650886C>T | CA497291643 | PRPF8 | c.6744G>A (p.Val2248=) c.2672G>A c.*6647G>A (n.*6647G>A) n.3238G>A c.6777G>A (p.Val2259=) c.6789G>A (p.Val2263=) c.6924G>A (p.Val2308=) c.163-40G>A n.913G>A | |
| 17 | g.1650887A>C | CA397562055 | PRPF8 | c.6743T>G (p.Val2248Gly) c.2671T>G c.*6646T>G (n.*6646T>G) n.3237T>G c.6776T>G (p.Val2259Gly) c.6788T>G (p.Val2263Gly) c.6923T>G (p.Val2308Gly) c.163-41T>G n.912T>G | |
| 17 | g.1650887A>G | CA397562058 | PRPF8 | c.6743T>C (p.Val2248Ala) c.2671T>C c.*6646T>C (n.*6646T>C) n.3237T>C c.6776T>C (p.Val2259Ala) c.6788T>C (p.Val2263Ala) c.6923T>C (p.Val2308Ala) c.163-41T>C n.912T>C | |
| 17 | g.1650887A>T | CA397562061 | PRPF8 | c.6743T>A (p.Val2248Glu) c.2671T>A c.*6646T>A (n.*6646T>A) n.3237T>A c.6776T>A (p.Val2259Glu) c.6788T>A (p.Val2263Glu) c.6923T>A (p.Val2308Glu) c.163-41T>A n.912T>A | |
| 17 | g.1650888C>A | CA397562064 | PRPF8 | c.6742G>T (p.Val2248Leu) c.2670G>T c.*6645G>T (n.*6645G>T) n.3236G>T c.6775G>T (p.Val2259Leu) c.6787G>T (p.Val2263Leu) c.6922G>T (p.Val2308Leu) c.163-42G>T n.911G>T | |
| 17 | g.1650888C>G | CA397562065 | PRPF8 | c.6742G>C (p.Val2248Leu) c.2670G>C c.*6645G>C (n.*6645G>C) n.3236G>C c.6775G>C (p.Val2259Leu) c.6787G>C (p.Val2263Leu) c.6922G>C (p.Val2308Leu) c.163-42G>C n.911G>C | |
| 17 | g.1650888C>T | CA397562066 | PRPF8 | c.6742G>A (p.Val2248Met) c.2670G>A c.*6645G>A (n.*6645G>A) n.3236G>A c.6775G>A (p.Val2259Met) c.6787G>A (p.Val2263Met) c.6922G>A (p.Val2308Met) c.163-42G>A n.911G>A | |
| 17 | g.1650889C>A | CA397562067 | PRPF8 | c.6741G>T (p.Glu2247Asp) c.2669G>T c.*6644G>T (n.*6644G>T) n.3235G>T c.6774G>T (p.Glu2258Asp) c.6786G>T (p.Glu2262Asp) c.6921G>T (p.Glu2307Asp) c.163-43G>T n.910G>T | |
| 17 | g.1650889C>G | CA397562068 | PRPF8 | c.6741G>C (p.Glu2247Asp) c.2669G>C c.*6644G>C (n.*6644G>C) n.3235G>C c.6774G>C (p.Glu2258Asp) c.6786G>C (p.Glu2262Asp) c.6921G>C (p.Glu2307Asp) c.163-43G>C n.910G>C | |
| 17 | g.1650889C>T | CA497291655 | PRPF8 | c.6741G>A (p.Glu2247=) c.2669G>A c.*6644G>A (n.*6644G>A) n.3235G>A c.6774G>A (p.Glu2258=) c.6786G>A (p.Glu2262=) c.6921G>A (p.Glu2307=) c.163-43G>A n.910G>A | gnomAD v4 |
| 17 | g.1650890T>A | CA397562078 | PRPF8 | c.6740A>T (p.Glu2247Val) c.2668A>T c.*6643A>T (n.*6643A>T) n.3234A>T c.6773A>T (p.Glu2258Val) c.6785A>T (p.Glu2262Val) c.6920A>T (p.Glu2307Val) c.163-44A>T n.909A>T | |
| 17 | g.1650890T>C | CA397562081 | PRPF8 | c.6740A>G (p.Glu2247Gly) c.2668A>G c.*6643A>G (n.*6643A>G) n.3234A>G c.6773A>G (p.Glu2258Gly) c.6785A>G (p.Glu2262Gly) c.6920A>G (p.Glu2307Gly) c.163-44A>G n.909A>G | |
| 17 | g.1650890T>G | CA397562070 | PRPF8 | c.6740A>C (p.Glu2247Ala) c.2668A>C c.*6643A>C (n.*6643A>C) n.3234A>C c.6773A>C (p.Glu2258Ala) c.6785A>C (p.Glu2262Ala) c.6920A>C (p.Glu2307Ala) c.163-44A>C n.909A>C | |
| 17 | g.1650891C>A | CA397562085 | PRPF8 | c.6739G>T (p.Glu2247Ter) c.2667G>T c.*6642G>T (n.*6642G>T) n.3233G>T c.6772G>T (p.Glu2258Ter) c.6784G>T (p.Glu2262Ter) c.6919G>T (p.Glu2307Ter) c.163-45G>T n.908G>T | |
| 17 | g.1650891C= | CA2242977346 | PRPF8 | c.6739G= (p.Glu2247=) c.2667G= c.*6642G= (n.*6642G=) n.3233G= c.6772G= (p.Glu2258=) c.6784G= (p.Glu2262=) c.6919G= (p.Glu2307=) c.163-45G= n.908G= | |
| 17 | g.1650891C>G | CA397562088 | PRPF8 | c.6739G>C (p.Glu2247Gln) c.2667G>C c.*6642G>C (n.*6642G>C) n.3233G>C c.6772G>C (p.Glu2258Gln) c.6784G>C (p.Glu2262Gln) c.6919G>C (p.Glu2307Gln) c.163-45G>C n.908G>C | |
| 17 | g.1650891C>T | CA397562091 | PRPF8 | c.6739G>A (p.Glu2247Lys) c.2667G>A c.*6642G>A (n.*6642G>A) n.3233G>A c.6772G>A (p.Glu2258Lys) c.6784G>A (p.Glu2262Lys) c.6919G>A (p.Glu2307Lys) c.163-45G>A n.908G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650892G>A | CA8271046 | PRPF8 | c.6738C>T (p.His2246=) c.2666C>T c.*6641C>T (n.*6641C>T) n.3232C>T c.6771C>T (p.His2257=) c.6783C>T (p.His2261=) c.6918C>T (p.His2306=) c.163-46C>T n.907C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650892G>C | CA8271047 | PRPF8 | c.6738C>G (p.His2246Gln) c.2666C>G c.*6641C>G (n.*6641C>G) n.3232C>G c.6771C>G (p.His2257Gln) c.6783C>G (p.His2261Gln) c.6918C>G (p.His2306Gln) c.163-46C>G n.907C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1650892G= | CA2242977352 | PRPF8 | c.6738C= (p.His2246=) c.2666C= c.*6641C= (n.*6641C=) n.3232C= c.6771C= (p.His2257=) c.6783C= (p.His2261=) c.6918C= (p.His2306=) c.163-46C= n.907C= | |
| 17 | g.1650892G>T | CA397562096 | PRPF8 | c.6738C>A (p.His2246Gln) c.2666C>A c.*6641C>A (n.*6641C>A) n.3232C>A c.6771C>A (p.His2257Gln) c.6783C>A (p.His2261Gln) c.6918C>A (p.His2306Gln) c.163-46C>A n.907C>A | COSMIC |
| 17 | g.1650893T>A | CA397562105 | PRPF8 | c.6737A>T (p.His2246Leu) c.2665A>T c.*6640A>T (n.*6640A>T) n.3231A>T c.6770A>T (p.His2257Leu) c.6782A>T (p.His2261Leu) c.6917A>T (p.His2306Leu) c.163-47A>T n.906A>T | |
| 17 | g.1650893T>C | CA397562112 | PRPF8 | c.6737A>G (p.His2246Arg) c.2665A>G c.*6640A>G (n.*6640A>G) n.3231A>G c.6770A>G (p.His2257Arg) c.6782A>G (p.His2261Arg) c.6917A>G (p.His2306Arg) c.163-47A>G n.906A>G | |
| 17 | g.1650893T>G | CA397562113 | PRPF8 | c.6737A>C (p.His2246Pro) c.2665A>C c.*6640A>C (n.*6640A>C) n.3231A>C c.6770A>C (p.His2257Pro) c.6782A>C (p.His2261Pro) c.6917A>C (p.His2306Pro) c.163-47A>C n.906A>C | |
| 17 | g.1650894G>A | CA397562115 | PRPF8 | c.6736C>T (p.His2246Tyr) c.2664C>T c.*6639C>T (n.*6639C>T) n.3230C>T c.6769C>T (p.His2257Tyr) c.6781C>T (p.His2261Tyr) c.6916C>T (p.His2306Tyr) c.163-48C>T n.905C>T | gnomAD v4 |
| 17 | g.1650894G>C | CA397562119 | PRPF8 | c.6736C>G (p.His2246Asp) c.2664C>G c.*6639C>G (n.*6639C>G) n.3230C>G c.6769C>G (p.His2257Asp) c.6781C>G (p.His2261Asp) c.6916C>G (p.His2306Asp) c.163-48C>G n.905C>G | gnomAD v4 |
| 17 | g.1650894G>T | CA397562121 | PRPF8 | c.6736C>A (p.His2246Asn) c.2664C>A c.*6639C>A (n.*6639C>A) n.3230C>A c.6769C>A (p.His2257Asn) c.6781C>A (p.His2261Asn) c.6916C>A (p.His2306Asn) c.163-48C>A n.905C>A | |
| 17 | g.1650895G>A | CA8271048 | PRPF8 | c.6735C>T (p.Tyr2245=) c.2663C>T c.*6638C>T (n.*6638C>T) n.3229C>T c.6768C>T (p.Tyr2256=) c.6780C>T (p.Tyr2260=) c.6915C>T (p.Tyr2305=) c.163-49C>T n.904C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650895G>C | CA397562122 | PRPF8 | c.6735C>G (p.Tyr2245Ter) c.2663C>G c.*6638C>G (n.*6638C>G) n.3229C>G c.6768C>G (p.Tyr2256Ter) c.6780C>G (p.Tyr2260Ter) c.6915C>G (p.Tyr2305Ter) c.163-49C>G n.904C>G | |
| 17 | g.1650895G= | CA2242977358 | PRPF8 | c.6735C= (p.Tyr2245=) c.2663C= c.*6638C= (n.*6638C=) n.3229C= c.6768C= (p.Tyr2256=) c.6780C= (p.Tyr2260=) c.6915C= (p.Tyr2305=) c.163-49C= n.904C= | |
| 17 | g.1650895G>T | CA397562125 | PRPF8 | c.6735C>A (p.Tyr2245Ter) c.2663C>A c.*6638C>A (n.*6638C>A) n.3229C>A c.6768C>A (p.Tyr2256Ter) c.6780C>A (p.Tyr2260Ter) c.6915C>A (p.Tyr2305Ter) c.163-49C>A n.904C>A | |
| 17 | g.1650896T>A | CA397562131 | PRPF8 | c.6734A>T (p.Tyr2245Phe) c.2662A>T c.*6637A>T (n.*6637A>T) n.3228A>T c.6767A>T (p.Tyr2256Phe) c.6779A>T (p.Tyr2260Phe) c.6914A>T (p.Tyr2305Phe) c.163-50A>T n.903A>T |