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 |
|---|---|---|---|---|---|
| 16 | g.2117987_2118031del | CA2695221792 | PKD1 | c.962_1006del (p.Ala321_Ala335del) c.49_93del n.95_139del c.1016_1060del (p.Ala339_Ala353del) c.944_988del (p.Ala315_Ala329del) c.890_934del (p.Ala297_Ala311del) c.809_853del (p.Ala270_Ala284del) c.752_796del (p.Ala251_Ala265del) n.1031_1075del | |
| 16 | g.2118015_2118034dup | CA2573054190 | PKD1 | c.965_984dup (p.Gly329ArgfsTer12) c.52_71dup n.98_117dup c.1019_1038dup (p.Gly347ArgfsTer12) c.947_966dup (p.Gly323ArgfsTer12) c.893_912dup (p.Gly305ArgfsTer12) c.812_831dup (p.Gly278ArgfsTer12) c.755_774dup (p.Gly259ArgfsTer12) n.1034_1053dup | ClinVar dbSNP gnomAD v4 |
| 16 | g.2118017_2118039del | CA2573054191 | PKD1 | c.954_976del (p.Pro319AlafsTer?) c.41_63del n.87_109del c.1008_1030del (p.Pro337AlafsTer?) c.936_958del (p.Pro313AlafsTer?) c.882_904del (p.Pro295AlafsTer?) c.801_823del (p.Pro268AlafsTer?) c.744_766del (p.Pro249AlafsTer?) n.1023_1045del | ClinVar dbSNP |
| 16 | g.2118024T>A | CA394393665 | PKD1 | c.968A>T (p.His323Leu) c.55A>T n.101A>T c.1022A>T (p.His341Leu) c.950A>T (p.His317Leu) c.896A>T (p.His299Leu) c.815A>T (p.His272Leu) c.758A>T (p.His253Leu) n.1037A>T | |
| 16 | g.2118024T>C | CA7833615 | PKD1 | c.968A>G (p.His323Arg) c.55A>G n.101A>G c.1022A>G (p.His341Arg) c.950A>G (p.His317Arg) c.896A>G (p.His299Arg) c.815A>G (p.His272Arg) c.758A>G (p.His253Arg) n.1037A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2118024T>G | CA394393664 | PKD1 | c.968A>C (p.His323Pro) c.55A>C n.101A>C c.1022A>C (p.His341Pro) c.950A>C (p.His317Pro) c.896A>C (p.His299Pro) c.815A>C (p.His272Pro) c.758A>C (p.His253Pro) n.1037A>C | |
| 16 | g.2118024T= | CA2202052022 | PKD1 | c.968A= (p.His323=) c.55A= n.101A= c.1022A= (p.His341=) c.950A= (p.His317=) c.896A= (p.His299=) c.815A= (p.His272=) c.758A= (p.His253=) n.1037A= | |
| 16 | g.2118025G>A | CA394393666 | PKD1 | c.967C>T (p.His323Tyr) c.54C>T n.100C>T c.1021C>T (p.His341Tyr) c.949C>T (p.His317Tyr) c.895C>T (p.His299Tyr) c.814C>T (p.His272Tyr) c.757C>T (p.His253Tyr) n.1036C>T | |
| 16 | g.2118025G>C | CA394393667 | PKD1 | c.967C>G (p.His323Asp) c.54C>G n.100C>G c.1021C>G (p.His341Asp) c.949C>G (p.His317Asp) c.895C>G (p.His299Asp) c.814C>G (p.His272Asp) c.757C>G (p.His253Asp) n.1036C>G | |
| 16 | g.2118025G>T | CA394393668 | PKD1 | c.967C>A (p.His323Asn) c.54C>A n.100C>A c.1021C>A (p.His341Asn) c.949C>A (p.His317Asn) c.895C>A (p.His299Asn) c.814C>A (p.His272Asn) c.757C>A (p.His253Asn) n.1036C>A | gnomAD v4 |
| 16 | g.2118026C>A | CA493050358 | PKD1 | c.966G>T (p.Ser322=) c.53G>T n.99G>T c.1020G>T (p.Ser340=) c.948G>T (p.Ser316=) c.894G>T (p.Ser298=) c.813G>T (p.Ser271=) c.756G>T (p.Ser252=) n.1035G>T | gnomAD v4 |
| 16 | g.2118026C= | CA2202052023 | PKD1 | c.966G= (p.Ser322=) c.53G= n.99G= c.1020G= (p.Ser340=) c.948G= (p.Ser316=) c.894G= (p.Ser298=) c.813G= (p.Ser271=) c.756G= (p.Ser252=) n.1035G= | |
| 16 | g.2118026C>G | CA493050359 | PKD1 | c.966G>C (p.Ser322=) c.53G>C n.99G>C c.1020G>C (p.Ser340=) c.948G>C (p.Ser316=) c.894G>C (p.Ser298=) c.813G>C (p.Ser271=) c.756G>C (p.Ser252=) n.1035G>C | |
| 16 | g.2118026C>T | CA493050360 | PKD1 | c.966G>A (p.Ser322=) c.53G>A n.99G>A c.1020G>A (p.Ser340=) c.948G>A (p.Ser316=) c.894G>A (p.Ser298=) c.813G>A (p.Ser271=) c.756G>A (p.Ser252=) n.1035G>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2118027G>A | CA7833616 | PKD1 | c.965C>T (p.Ser322Leu) c.52C>T n.98C>T c.1019C>T (p.Ser340Leu) c.947C>T (p.Ser316Leu) c.893C>T (p.Ser298Leu) c.812C>T (p.Ser271Leu) c.755C>T (p.Ser252Leu) n.1034C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2118027G>C | CA394393669 | PKD1 | c.965C>G (p.Ser322Trp) c.52C>G n.98C>G c.1019C>G (p.Ser340Trp) c.947C>G (p.Ser316Trp) c.893C>G (p.Ser298Trp) c.812C>G (p.Ser271Trp) c.755C>G (p.Ser252Trp) n.1034C>G | gnomAD v4 |
| 16 | g.2118027G= | CA2202052024 | PKD1 | c.965C= (p.Ser322=) c.52C= n.98C= c.1019C= (p.Ser340=) c.947C= (p.Ser316=) c.893C= (p.Ser298=) c.812C= (p.Ser271=) c.755C= (p.Ser252=) n.1034C= | |
| 16 | g.2118027G>T | CA394393670 | PKD1 | c.965C>A (p.Ser322Ter) c.52C>A n.98C>A c.1019C>A (p.Ser340Ter) c.947C>A (p.Ser316Ter) c.893C>A (p.Ser298Ter) c.812C>A (p.Ser271Ter) c.755C>A (p.Ser252Ter) n.1034C>A | gnomAD v4 |
| 16 | g.2118028_2118029dup | CA658823812 | PKD1 | c.964_965dup (p.His323ArgfsTer12) c.51_52dup n.97_98dup c.1018_1019dup (p.His341ArgfsTer12) c.946_947dup (p.His317ArgfsTer12) c.892_893dup (p.His299ArgfsTer12) c.811_812dup (p.His272ArgfsTer12) c.754_755dup (p.His253ArgfsTer12) n.1033_1034dup | ClinVar dbSNP |
| 16 | g.2118028A>C | CA394393671 | PKD1 | c.964T>G (p.Ser322Ala) c.51T>G n.97T>G c.1018T>G (p.Ser340Ala) c.946T>G (p.Ser316Ala) c.892T>G (p.Ser298Ala) c.811T>G (p.Ser271Ala) c.754T>G (p.Ser252Ala) n.1033T>G | |
| 16 | g.2118028A>G | CA394393672 | PKD1 | c.964T>C (p.Ser322Pro) c.51T>C n.97T>C c.1018T>C (p.Ser340Pro) c.946T>C (p.Ser316Pro) c.892T>C (p.Ser298Pro) c.811T>C (p.Ser271Pro) c.754T>C (p.Ser252Pro) n.1033T>C | |
| 16 | g.2118028A>T | CA394393673 | PKD1 | c.964T>A (p.Ser322Thr) c.51T>A n.97T>A c.1018T>A (p.Ser340Thr) c.946T>A (p.Ser316Thr) c.892T>A (p.Ser298Thr) c.811T>A (p.Ser271Thr) c.754T>A (p.Ser252Thr) n.1033T>A | |
| 16 | g.2118029G>A | CA493050361 | PKD1 | c.963C>T (p.Ala321=) c.50C>T n.96C>T c.1017C>T (p.Ala339=) c.945C>T (p.Ala315=) c.891C>T (p.Ala297=) c.810C>T (p.Ala270=) c.753C>T (p.Ala251=) n.1032C>T | |
| 16 | g.2118029G>C | CA7833617 | PKD1 | c.963C>G (p.Ala321=) c.50C>G n.96C>G c.1017C>G (p.Ala339=) c.945C>G (p.Ala315=) c.891C>G (p.Ala297=) c.810C>G (p.Ala270=) c.753C>G (p.Ala251=) n.1032C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2118029G= | CA2202052025 | PKD1 | c.963C= (p.Ala321=) c.50C= n.96C= c.1017C= (p.Ala339=) c.945C= (p.Ala315=) c.891C= (p.Ala297=) c.810C= (p.Ala270=) c.753C= (p.Ala251=) n.1032C= | |
| 16 | g.2118029G>T | CA493050362 | PKD1 | c.963C>A (p.Ala321=) c.50C>A n.96C>A c.1017C>A (p.Ala339=) c.945C>A (p.Ala315=) c.891C>A (p.Ala297=) c.810C>A (p.Ala270=) c.753C>A (p.Ala251=) n.1032C>A | gnomAD v4 |
| 16 | g.2118031_2118060del | CA2695221793 | PKD1 | c.934_963del (p.Ala312_Ala321del) c.21_50del n.67_96del c.988_1017del (p.Ala330_Ala339del) c.916_945del (p.Ala306_Ala315del) c.862_891del (p.Ala288_Ala297del) c.781_810del (p.Ala261_Ala270del) c.724_753del (p.Ala242_Ala251del) n.1003_1032del | |
| 16 | g.2118030G>A | CA7833618 | PKD1 | c.962C>T (p.Ala321Val) c.49C>T n.95C>T c.1016C>T (p.Ala339Val) c.944C>T (p.Ala315Val) c.890C>T (p.Ala297Val) c.809C>T (p.Ala270Val) c.752C>T (p.Ala251Val) n.1031C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2118030G>C | CA394393674 | PKD1 | c.962C>G (p.Ala321Gly) c.49C>G n.95C>G c.1016C>G (p.Ala339Gly) c.944C>G (p.Ala315Gly) c.890C>G (p.Ala297Gly) c.809C>G (p.Ala270Gly) c.752C>G (p.Ala251Gly) n.1031C>G | |
| 16 | g.2118030G= | CA2202052026 | PKD1 | c.962C= (p.Ala321=) c.49C= n.95C= c.1016C= (p.Ala339=) c.944C= (p.Ala315=) c.890C= (p.Ala297=) c.809C= (p.Ala270=) c.752C= (p.Ala251=) n.1031C= | |
| 16 | g.2118030G>T | CA394393675 | PKD1 | c.962C>A (p.Ala321Asp) c.49C>A n.95C>A c.1016C>A (p.Ala339Asp) c.944C>A (p.Ala315Asp) c.890C>A (p.Ala297Asp) c.809C>A (p.Ala270Asp) c.752C>A (p.Ala251Asp) n.1031C>A | gnomAD v4 |
| 16 | g.2118031C>A | CA394393678 | PKD1 | c.961G>T (p.Ala321Ser) c.48G>T n.94G>T c.1015G>T (p.Ala339Ser) c.943G>T (p.Ala315Ser) c.889G>T (p.Ala297Ser) c.808G>T (p.Ala270Ser) c.751G>T (p.Ala251Ser) n.1030G>T | gnomAD v4 |
| 16 | g.2118031C= | CA2202052027 | PKD1 | c.961G= (p.Ala321=) c.48G= n.94G= c.1015G= (p.Ala339=) c.943G= (p.Ala315=) c.889G= (p.Ala297=) c.808G= (p.Ala270=) c.751G= (p.Ala251=) n.1030G= | |
| 16 | g.2118031C>G | CA394393677 | PKD1 | c.961G>C (p.Ala321Pro) c.48G>C n.94G>C c.1015G>C (p.Ala339Pro) c.943G>C (p.Ala315Pro) c.889G>C (p.Ala297Pro) c.808G>C (p.Ala270Pro) c.751G>C (p.Ala251Pro) n.1030G>C | |
| 16 | g.2118031C>T | CA394393676 | PKD1 | c.961G>A (p.Ala321Thr) c.48G>A n.94G>A c.1015G>A (p.Ala339Thr) c.943G>A (p.Ala315Thr) c.889G>A (p.Ala297Thr) c.808G>A (p.Ala270Thr) c.751G>A (p.Ala251Thr) n.1030G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2118031_2118060delinsCAGCCGGCCCAGCGGCATCCACCTCGGCGG | CA2202052028 | PKD1 | c.932_961delinsCCGCCGAGGTGGATGCCGCTGGGCCGGCTG (p.Ser311=) c.19_48delinsCCGCCGAGGTGGATGCCGCTGGGCCGGCTG n.65_94delinsCCGCCGAGGTGGATGCCGCTGGGCCGGCTG c.986_1015delinsCCGCCGAGGTGGATGCCGCTGGGCCGGCTG (p.Ser329=) c.914_943delinsCCGCCGAGGTGGATGCCGCTGGGCCGGCTG (p.Ser305=) c.860_889delinsCCGCCGAGGTGGATGCCGCTGGGCCGGCTG (p.Ser287=) c.779_808delinsCCGCCGAGGTGGATGCCGCTGGGCCGGCTG (p.Ser260=) c.722_751delinsCCGCCGAGGTGGATGCCGCTGGGCCGGCTG (p.Ser241=) n.1001_1030delinsCCGCCGAGGTGGATGCCGCTGGGCCGGCTG | |
| 16 | g.2118032A= | CA2202052029 | PKD1 | c.960T= (p.Ala320=) c.47T= n.93T= c.1014T= (p.Ala338=) c.942T= (p.Ala314=) c.888T= (p.Ala296=) c.807T= (p.Ala269=) c.750T= (p.Ala250=) n.1029T= | |
| 16 | g.2118032A>C | CA493050363 | PKD1 | c.960T>G (p.Ala320=) c.47T>G n.93T>G c.1014T>G (p.Ala338=) c.942T>G (p.Ala314=) c.888T>G (p.Ala296=) c.807T>G (p.Ala269=) c.750T>G (p.Ala250=) n.1029T>G | |
| 16 | g.2118032A>G | CA493050364 | PKD1 | c.960T>C (p.Ala320=) c.47T>C n.93T>C c.1014T>C (p.Ala338=) c.942T>C (p.Ala314=) c.888T>C (p.Ala296=) c.807T>C (p.Ala269=) c.750T>C (p.Ala250=) n.1029T>C | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2118032A>T | CA493050365 | PKD1 | c.960T>A (p.Ala320=) c.47T>A n.93T>A c.1014T>A (p.Ala338=) c.942T>A (p.Ala314=) c.888T>A (p.Ala296=) c.807T>A (p.Ala269=) c.750T>A (p.Ala250=) n.1029T>A | |
| 16 | g.2118037_2118065del | CA718970470 | PKD1 | c.932_960del (p.Ser311CysfsTer?) c.19_47del n.65_93del c.986_1014del (p.Ser329CysfsTer?) c.914_942del (p.Ser305CysfsTer?) c.860_888del (p.Ser287CysfsTer?) c.779_807del (p.Ser260CysfsTer?) c.722_750del (p.Ser241CysfsTer?) n.1001_1029del | dbSNP |
| 16 | g.2118033G>A | CA394393679 | PKD1 | c.959C>T (p.Ala320Val) c.46C>T n.92C>T c.1013C>T (p.Ala338Val) c.941C>T (p.Ala314Val) c.887C>T (p.Ala296Val) c.806C>T (p.Ala269Val) c.749C>T (p.Ala250Val) n.1028C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2118033G>C | CA394393680 | PKD1 | c.959C>G (p.Ala320Gly) c.46C>G n.92C>G c.1013C>G (p.Ala338Gly) c.941C>G (p.Ala314Gly) c.887C>G (p.Ala296Gly) c.806C>G (p.Ala269Gly) c.749C>G (p.Ala250Gly) n.1028C>G | |
| 16 | g.2118033G= | CA2202052030 | PKD1 | c.959C= (p.Ala320=) c.46C= n.92C= c.1013C= (p.Ala338=) c.941C= (p.Ala314=) c.887C= (p.Ala296=) c.806C= (p.Ala269=) c.749C= (p.Ala250=) n.1028C= | |
| 16 | g.2118033G>T | CA394393681 | PKD1 | c.959C>A (p.Ala320Asp) c.46C>A n.92C>A c.1013C>A (p.Ala338Asp) c.941C>A (p.Ala314Asp) c.887C>A (p.Ala296Asp) c.806C>A (p.Ala269Asp) c.749C>A (p.Ala250Asp) n.1028C>A | gnomAD v4 |
| 16 | g.2118034C>A | CA394393682 | PKD1 | c.958G>T (p.Ala320Ser) c.45G>T n.91G>T c.1012G>T (p.Ala338Ser) c.940G>T (p.Ala314Ser) c.886G>T (p.Ala296Ser) c.805G>T (p.Ala269Ser) c.748G>T (p.Ala250Ser) n.1027G>T | |
| 16 | g.2118034C= | CA2202052031 | PKD1 | c.958G= (p.Ala320=) c.45G= n.91G= c.1012G= (p.Ala338=) c.940G= (p.Ala314=) c.886G= (p.Ala296=) c.805G= (p.Ala269=) c.748G= (p.Ala250=) n.1027G= | |
| 16 | g.2118034C>G | CA394393683 | PKD1 | c.958G>C (p.Ala320Pro) c.45G>C n.91G>C c.1012G>C (p.Ala338Pro) c.940G>C (p.Ala314Pro) c.886G>C (p.Ala296Pro) c.805G>C (p.Ala269Pro) c.748G>C (p.Ala250Pro) n.1027G>C | |
| 16 | g.2118034C>T | CA394393684 | PKD1 | c.958G>A (p.Ala320Thr) c.45G>A n.91G>A c.1012G>A (p.Ala338Thr) c.940G>A (p.Ala314Thr) c.886G>A (p.Ala296Thr) c.805G>A (p.Ala269Thr) c.748G>A (p.Ala250Thr) n.1027G>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2118035del | CA973775729 | PKD1 | c.958del (p.Ala320LeufsTer14) c.45del n.91del c.1012del (p.Ala338LeufsTer14) c.940del (p.Ala314LeufsTer14) c.886del (p.Ala296LeufsTer14) c.805del (p.Ala269LeufsTer14) c.748del (p.Ala250LeufsTer14) n.1027del | gnomAD v3 gnomAD v4 |