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 |
|---|---|---|---|---|---|
| 6 | g.15627394_15627414delinsGGAGCTGCTCTTGCAGCTCCA | CA1612384604 | DTNBP1 | c.284_304delinsTGGAGCTGCAAGAGCAGCTCC (p.Val95=) c.233_253delinsTGGAGCTGCAAGAGCAGCTCC (p.Val78=) c.*282_*302delinsTGGAGCTGCAAGAGCAGCTCC (n.*282_*302delinsTGGAGCTGCAAGAGCAGCTCC) c.*194_*214delinsTGGAGCTGCAAGAGCAGCTCC (n.*194_*214delinsTGGAGCTGCAAGAGCAGCTCC) c.179_199delinsTGGAGCTGCAAGAGCAGCTCC (p.Val60=) c.41_61delinsTGGAGCTGCAAGAGCAGCTCC (p.Val14=) n.612_632delinsTGGAGCTGCAAGAGCAGCTCC c.245_265delinsTGGAGCTGCAAGAGCAGCTCC (p.Val82=) c.194_214delinsTGGAGCTGCAAGAGCAGCTCC (p.Val65=) n.582_602delinsTGGAGCTGCAAGAGCAGCTCC | |
| 6 | g.15627395_15627414del | CA135264857 | DTNBP1 | c.284_303del (p.Val95AlafsTer25) c.233_252del (p.Val78AlafsTer25) c.*282_*301del (n.*282_*301del) c.*194_*213del (n.*194_*213del) c.179_198del (p.Val60AlafsTer25) c.41_60del (p.Val14AlafsTer25) n.612_631del c.245_264del (p.Val82AlafsTer25) c.194_213del (p.Val65AlafsTer25) n.582_601del | dbSNP |
| 6 | g.15627396_15627405delinsAGCTGCTCTT | CA1612384605 | DTNBP1 | c.293_302delinsAAGAGCAGCT (p.Gln98=) c.242_251delinsAAGAGCAGCT (p.Gln81=) c.*291_*300delinsAAGAGCAGCT (n.*291_*300delinsAAGAGCAGCT) c.*203_*212delinsAAGAGCAGCT (n.*203_*212delinsAAGAGCAGCT) c.188_197delinsAAGAGCAGCT (p.Gln63=) c.50_59delinsAAGAGCAGCT (p.Gln17=) n.621_630delinsAAGAGCAGCT c.254_263delinsAAGAGCAGCT (p.Gln85=) c.203_212delinsAAGAGCAGCT (p.Gln68=) n.591_600delinsAAGAGCAGCT | |
| 6 | g.15627399_15627407del | CA1612384606 | DTNBP1 | c.293_301del (p.Gln98_Gln100del) c.242_250del (p.Gln81_Gln83del) c.*291_*299del (n.*291_*299del) c.*203_*211del (n.*203_*211del) c.188_196del (p.Gln63_Gln65del) c.50_58del (p.Gln17_Gln19del) n.621_629del c.254_262del (p.Gln85_Gln87del) c.203_211del (p.Gln68_Gln70del) n.591_599del | dbSNP |
| 6 | g.15627403C>A | CA362868958 | DTNBP1 | c.295G>T (p.Glu99Ter) c.244G>T (p.Glu82Ter) c.*293G>T (n.*293G>T) c.*205G>T (n.*205G>T) c.190G>T (p.Glu64Ter) c.52G>T (p.Glu18Ter) n.623G>T c.256G>T (p.Glu86Ter) c.205G>T (p.Glu69Ter) n.593G>T | dbSNP gnomAD v2 |
| 6 | g.15627403C= | CA1612384608 | DTNBP1 | c.295G= (p.Glu99=) c.244G= (p.Glu82=) c.*293G= (n.*293G=) c.*205G= (n.*205G=) c.190G= (p.Glu64=) c.52G= (p.Glu18=) n.623G= c.256G= (p.Glu86=) c.205G= (p.Glu69=) n.593G= | |
| 6 | g.15627403C>G | CA362868959 | DTNBP1 | c.295G>C (p.Glu99Gln) c.244G>C (p.Glu82Gln) c.*293G>C (n.*293G>C) c.*205G>C (n.*205G>C) c.190G>C (p.Glu64Gln) c.52G>C (p.Glu18Gln) n.623G>C c.256G>C (p.Glu86Gln) c.205G>C (p.Glu69Gln) n.593G>C | |
| 6 | g.15627403C>T | CA362868960 | DTNBP1 | c.295G>A (p.Glu99Lys) c.244G>A (p.Glu82Lys) c.*293G>A (n.*293G>A) c.*205G>A (n.*205G>A) c.190G>A (p.Glu64Lys) c.52G>A (p.Glu18Lys) n.623G>A c.256G>A (p.Glu86Lys) c.205G>A (p.Glu69Lys) n.593G>A | COSMIC |
| 6 | g.15627404T>A | CA362868962 | DTNBP1 | c.294A>T (p.Gln98His) c.243A>T (p.Gln81His) c.*292A>T (n.*292A>T) c.*204A>T (n.*204A>T) c.189A>T (p.Gln63His) c.51A>T (p.Gln17His) n.622A>T c.255A>T (p.Gln85His) c.204A>T (p.Gln68His) n.592A>T | |
| 6 | g.15627404T>C | CA448827254 | DTNBP1 | c.294A>G (p.Gln98=) c.243A>G (p.Gln81=) c.*292A>G (n.*292A>G) c.*204A>G (n.*204A>G) c.189A>G (p.Gln63=) c.51A>G (p.Gln17=) n.622A>G c.255A>G (p.Gln85=) c.204A>G (p.Gln68=) n.592A>G | dbSNP gnomAD v4 |
| 6 | g.15627404T>G | CA362868961 | DTNBP1 | c.294A>C (p.Gln98His) c.243A>C (p.Gln81His) c.*292A>C (n.*292A>C) c.*204A>C (n.*204A>C) c.189A>C (p.Gln63His) c.51A>C (p.Gln17His) n.622A>C c.255A>C (p.Gln85His) c.204A>C (p.Gln68His) n.592A>C | |
| 6 | g.15627405T>A | CA362868963 | DTNBP1 | c.293A>T (p.Gln98Leu) c.242A>T (p.Gln81Leu) c.*291A>T (n.*291A>T) c.*203A>T (n.*203A>T) c.188A>T (p.Gln63Leu) c.50A>T (p.Gln17Leu) n.621A>T c.254A>T (p.Gln85Leu) c.203A>T (p.Gln68Leu) n.591A>T | |
| 6 | g.15627405T>C | CA135264858 | DTNBP1 | c.293A>G (p.Gln98Arg) c.242A>G (p.Gln81Arg) c.*291A>G (n.*291A>G) c.*203A>G (n.*203A>G) c.188A>G (p.Gln63Arg) c.50A>G (p.Gln17Arg) n.621A>G c.254A>G (p.Gln85Arg) c.203A>G (p.Gln68Arg) n.591A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.15627405T>G | CA362868964 | DTNBP1 | c.293A>C (p.Gln98Pro) c.242A>C (p.Gln81Pro) c.*291A>C (n.*291A>C) c.*203A>C (n.*203A>C) c.188A>C (p.Gln63Pro) c.50A>C (p.Gln17Pro) n.621A>C c.254A>C (p.Gln85Pro) c.203A>C (p.Gln68Pro) n.591A>C | |
| 6 | g.15627405T= | CA1612384609 | DTNBP1 | c.293A= (p.Gln98=) c.242A= (p.Gln81=) c.*291A= (n.*291A=) c.*203A= (n.*203A=) c.188A= (p.Gln63=) c.50A= (p.Gln17=) n.621A= c.254A= (p.Gln85=) c.203A= (p.Gln68=) n.591A= | |
| 6 | g.15627406G>A | CA362868965 | DTNBP1 | c.292C>T (p.Gln98Ter) c.241C>T (p.Gln81Ter) c.*290C>T (n.*290C>T) c.*202C>T (n.*202C>T) c.187C>T (p.Gln63Ter) c.49C>T (p.Gln17Ter) n.620C>T c.253C>T (p.Gln85Ter) c.202C>T (p.Gln68Ter) n.590C>T | |
| 6 | g.15627406G>C | CA362868966 | DTNBP1 | c.292C>G (p.Gln98Glu) c.241C>G (p.Gln81Glu) c.*290C>G (n.*290C>G) c.*202C>G (n.*202C>G) c.187C>G (p.Gln63Glu) c.49C>G (p.Gln17Glu) n.620C>G c.253C>G (p.Gln85Glu) c.202C>G (p.Gln68Glu) n.590C>G | |
| 6 | g.15627406G>T | CA362868967 | DTNBP1 | c.292C>A (p.Gln98Lys) c.241C>A (p.Gln81Lys) c.*290C>A (n.*290C>A) c.*202C>A (n.*202C>A) c.187C>A (p.Gln63Lys) c.49C>A (p.Gln17Lys) n.620C>A c.253C>A (p.Gln85Lys) c.202C>A (p.Gln68Lys) n.590C>A | |
| 6 | g.15627407C>A | CA448827257 | DTNBP1 | c.291G>T (p.Leu97=) c.240G>T (p.Leu80=) c.*289G>T (n.*289G>T) c.*201G>T (n.*201G>T) c.186G>T (p.Leu62=) c.48G>T (p.Leu16=) n.619G>T c.252G>T (p.Leu84=) c.201G>T (p.Leu67=) n.589G>T | |
| 6 | g.15627407C>G | CA448827256 | DTNBP1 | c.291G>C (p.Leu97=) c.240G>C (p.Leu80=) c.*289G>C (n.*289G>C) c.*201G>C (n.*201G>C) c.186G>C (p.Leu62=) c.48G>C (p.Leu16=) n.619G>C c.252G>C (p.Leu84=) c.201G>C (p.Leu67=) n.589G>C | |
| 6 | g.15627407C>T | CA448827255 | DTNBP1 | c.291G>A (p.Leu97=) c.240G>A (p.Leu80=) c.*289G>A (n.*289G>A) c.*201G>A (n.*201G>A) c.186G>A (p.Leu62=) c.48G>A (p.Leu16=) n.619G>A c.252G>A (p.Leu84=) c.201G>A (p.Leu67=) n.589G>A | gnomAD v4 |
| 6 | g.15627408A>C | CA362868970 | DTNBP1 | c.290T>G (p.Leu97Arg) c.239T>G (p.Leu80Arg) c.*288T>G (n.*288T>G) c.*200T>G (n.*200T>G) c.185T>G (p.Leu62Arg) c.47T>G (p.Leu16Arg) n.618T>G c.251T>G (p.Leu84Arg) c.200T>G (p.Leu67Arg) n.588T>G | |
| 6 | g.15627408A>G | CA362868968 | DTNBP1 | c.290T>C (p.Leu97Pro) c.239T>C (p.Leu80Pro) c.*288T>C (n.*288T>C) c.*200T>C (n.*200T>C) c.185T>C (p.Leu62Pro) c.47T>C (p.Leu16Pro) n.618T>C c.251T>C (p.Leu84Pro) c.200T>C (p.Leu67Pro) n.588T>C | |
| 6 | g.15627408A>T | CA362868969 | DTNBP1 | c.290T>A (p.Leu97Gln) c.239T>A (p.Leu80Gln) c.*288T>A (n.*288T>A) c.*200T>A (n.*200T>A) c.185T>A (p.Leu62Gln) c.47T>A (p.Leu16Gln) n.618T>A c.251T>A (p.Leu84Gln) c.200T>A (p.Leu67Gln) n.588T>A | |
| 6 | g.15627409G>A | CA448827258 | DTNBP1 | c.289C>T (p.Leu97=) c.238C>T (p.Leu80=) c.*287C>T (n.*287C>T) c.*199C>T (n.*199C>T) c.184C>T (p.Leu62=) c.46C>T (p.Leu16=) n.617C>T c.250C>T (p.Leu84=) c.199C>T (p.Leu67=) n.587C>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.15627409G>C | CA3644177 | DTNBP1 | c.289C>G (p.Leu97Val) c.238C>G (p.Leu80Val) c.*287C>G (n.*287C>G) c.*199C>G (n.*199C>G) c.184C>G (p.Leu62Val) c.46C>G (p.Leu16Val) n.617C>G c.250C>G (p.Leu84Val) c.199C>G (p.Leu67Val) n.587C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.15627409G= | CA1612384610 | DTNBP1 | c.289C= (p.Leu97=) c.238C= (p.Leu80=) c.*287C= (n.*287C=) c.*199C= (n.*199C=) c.184C= (p.Leu62=) c.46C= (p.Leu16=) n.617C= c.250C= (p.Leu84=) c.199C= (p.Leu67=) n.587C= | |
| 6 | g.15627409G>T | CA3644176 | DTNBP1 | c.289C>A (p.Leu97Met) c.238C>A (p.Leu80Met) c.*287C>A (n.*287C>A) c.*199C>A (n.*199C>A) c.184C>A (p.Leu62Met) c.46C>A (p.Leu16Met) n.617C>A c.250C>A (p.Leu84Met) c.199C>A (p.Leu67Met) n.587C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.15627410C>A | CA362868971 | DTNBP1 | c.288G>T (p.Glu96Asp) c.237G>T (p.Glu79Asp) c.*286G>T (n.*286G>T) c.*198G>T (n.*198G>T) c.183G>T (p.Glu61Asp) c.45G>T (p.Glu15Asp) n.616G>T c.249G>T (p.Glu83Asp) c.198G>T (p.Glu66Asp) n.586G>T | |
| 6 | g.15627410C= | CA1612384611 | DTNBP1 | c.288G= (p.Glu96=) c.237G= (p.Glu79=) c.*286G= (n.*286G=) c.*198G= (n.*198G=) c.183G= (p.Glu61=) c.45G= (p.Glu15=) n.616G= c.249G= (p.Glu83=) c.198G= (p.Glu66=) n.586G= | |
| 6 | g.15627410C>G | CA362868972 | DTNBP1 | c.288G>C (p.Glu96Asp) c.237G>C (p.Glu79Asp) c.*286G>C (n.*286G>C) c.*198G>C (n.*198G>C) c.183G>C (p.Glu61Asp) c.45G>C (p.Glu15Asp) n.616G>C c.249G>C (p.Glu83Asp) c.198G>C (p.Glu66Asp) n.586G>C | dbSNP |
| 6 | g.15627410C>T | CA448827259 | DTNBP1 | c.288G>A (p.Glu96=) c.237G>A (p.Glu79=) c.*286G>A (n.*286G>A) c.*198G>A (n.*198G>A) c.183G>A (p.Glu61=) c.45G>A (p.Glu15=) n.616G>A c.249G>A (p.Glu83=) c.198G>A (p.Glu66=) n.586G>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.15627411T>A | CA362868973 | DTNBP1 | c.287A>T (p.Glu96Val) c.236A>T (p.Glu79Val) c.*285A>T (n.*285A>T) c.*197A>T (n.*197A>T) c.182A>T (p.Glu61Val) c.44A>T (p.Glu15Val) n.615A>T c.248A>T (p.Glu83Val) c.197A>T (p.Glu66Val) n.585A>T | |
| 6 | g.15627411T>C | CA362868974 | DTNBP1 | c.287A>G (p.Glu96Gly) c.236A>G (p.Glu79Gly) c.*285A>G (n.*285A>G) c.*197A>G (n.*197A>G) c.182A>G (p.Glu61Gly) c.44A>G (p.Glu15Gly) n.615A>G c.248A>G (p.Glu83Gly) c.197A>G (p.Glu66Gly) n.585A>G | |
| 6 | g.15627411T>G | CA362868975 | DTNBP1 | c.287A>C (p.Glu96Ala) c.236A>C (p.Glu79Ala) c.*285A>C (n.*285A>C) c.*197A>C (n.*197A>C) c.182A>C (p.Glu61Ala) c.44A>C (p.Glu15Ala) n.615A>C c.248A>C (p.Glu83Ala) c.197A>C (p.Glu66Ala) n.585A>C | |
| 6 | g.15627412C>A | CA362868976 | DTNBP1 | c.286G>T (p.Glu96Ter) c.235G>T (p.Glu79Ter) c.*284G>T (n.*284G>T) c.*196G>T (n.*196G>T) c.181G>T (p.Glu61Ter) c.43G>T (p.Glu15Ter) n.614G>T c.247G>T (p.Glu83Ter) c.196G>T (p.Glu66Ter) n.584G>T | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 6 | g.15627412C= | CA1612384612 | DTNBP1 | c.286G= (p.Glu96=) c.235G= (p.Glu79=) c.*284G= (n.*284G=) c.*196G= (n.*196G=) c.181G= (p.Glu61=) c.43G= (p.Glu15=) n.614G= c.247G= (p.Glu83=) c.196G= (p.Glu66=) n.584G= | |
| 6 | g.15627412C>G | CA362868977 | DTNBP1 | c.286G>C (p.Glu96Gln) c.235G>C (p.Glu79Gln) c.*284G>C (n.*284G>C) c.*196G>C (n.*196G>C) c.181G>C (p.Glu61Gln) c.43G>C (p.Glu15Gln) n.614G>C c.247G>C (p.Glu83Gln) c.196G>C (p.Glu66Gln) n.584G>C | dbSNP gnomAD v2 |
| 6 | g.15627412C>T | CA362868978 | DTNBP1 | c.286G>A (p.Glu96Lys) c.235G>A (p.Glu79Lys) c.*284G>A (n.*284G>A) c.*196G>A (n.*196G>A) c.181G>A (p.Glu61Lys) c.43G>A (p.Glu15Lys) n.614G>A c.247G>A (p.Glu83Lys) c.196G>A (p.Glu66Lys) n.584G>A | ClinVar dbSNP gnomAD v2 |
| 6 | g.15627413C>A | CA448827260 | DTNBP1 | c.285G>T (p.Val95=) c.234G>T (p.Val78=) c.*283G>T (n.*283G>T) c.*195G>T (n.*195G>T) c.180G>T (p.Val60=) c.42G>T (p.Val14=) n.613G>T c.246G>T (p.Val82=) c.195G>T (p.Val65=) n.583G>T | |
| 6 | g.15627413C>G | CA448827261 | DTNBP1 | c.285G>C (p.Val95=) c.234G>C (p.Val78=) c.*283G>C (n.*283G>C) c.*195G>C (n.*195G>C) c.180G>C (p.Val60=) c.42G>C (p.Val14=) n.613G>C c.246G>C (p.Val82=) c.195G>C (p.Val65=) n.583G>C | |
| 6 | g.15627413C>T | CA448827262 | DTNBP1 | c.285G>A (p.Val95=) c.234G>A (p.Val78=) c.*283G>A (n.*283G>A) c.*195G>A (n.*195G>A) c.180G>A (p.Val60=) c.42G>A (p.Val14=) n.613G>A c.246G>A (p.Val82=) c.195G>A (p.Val65=) n.583G>A | |
| 6 | g.15627414_15627415dup | CA1612384613 | DTNBP1 | c.284_285dup (p.Glu96TrpfsTer13) c.233_234dup (p.Glu79TrpfsTer13) c.*282_*283dup (n.*282_*283dup) c.*194_*195dup (n.*194_*195dup) c.179_180dup (p.Glu61TrpfsTer13) c.41_42dup (p.Glu15TrpfsTer13) n.612_613dup c.245_246dup (p.Glu83TrpfsTer13) c.194_195dup (p.Glu66TrpfsTer13) n.582_583dup | dbSNP |
| 6 | g.15627414A= | CA1612384614 | DTNBP1 | c.284T= (p.Val95=) c.233T= (p.Val78=) c.*282T= (n.*282T=) c.*194T= (n.*194T=) c.179T= (p.Val60=) c.41T= (p.Val14=) n.612T= c.245T= (p.Val82=) c.194T= (p.Val65=) n.582T= | |
| 6 | g.15627414A>C | CA362868979 | DTNBP1 | c.284T>G (p.Val95Gly) c.233T>G (p.Val78Gly) c.*282T>G (n.*282T>G) c.*194T>G (n.*194T>G) c.179T>G (p.Val60Gly) c.41T>G (p.Val14Gly) n.612T>G c.245T>G (p.Val82Gly) c.194T>G (p.Val65Gly) n.582T>G | dbSNP |
| 6 | g.15627414A>G | CA362868980 | DTNBP1 | c.284T>C (p.Val95Ala) c.233T>C (p.Val78Ala) c.*282T>C (n.*282T>C) c.*194T>C (n.*194T>C) c.179T>C (p.Val60Ala) c.41T>C (p.Val14Ala) n.612T>C c.245T>C (p.Val82Ala) c.194T>C (p.Val65Ala) n.582T>C | gnomAD v4 |
| 6 | g.15627414A>T | CA362868981 | DTNBP1 | c.284T>A (p.Val95Glu) c.233T>A (p.Val78Glu) c.*282T>A (n.*282T>A) c.*194T>A (n.*194T>A) c.179T>A (p.Val60Glu) c.41T>A (p.Val14Glu) n.612T>A c.245T>A (p.Val82Glu) c.194T>A (p.Val65Glu) n.582T>A | |
| 6 | g.15627415C>A | CA362868982 | DTNBP1 | c.283G>T (p.Val95Leu) c.232G>T (p.Val78Leu) c.*281G>T (n.*281G>T) c.*193G>T (n.*193G>T) c.178G>T (p.Val60Leu) c.40G>T (p.Val14Leu) n.611G>T c.244G>T (p.Val82Leu) c.193G>T (p.Val65Leu) n.581G>T | |
| 6 | g.15627415C= | CA1612384615 | DTNBP1 | c.283G= (p.Val95=) c.232G= (p.Val78=) c.*281G= (n.*281G=) c.*193G= (n.*193G=) c.178G= (p.Val60=) c.40G= (p.Val14=) n.611G= c.244G= (p.Val82=) c.193G= (p.Val65=) n.581G= | |
| 6 | g.15627415C>G | CA135264859 | DTNBP1 | c.283G>C (p.Val95Leu) c.232G>C (p.Val78Leu) c.*281G>C (n.*281G>C) c.*193G>C (n.*193G>C) c.178G>C (p.Val60Leu) c.40G>C (p.Val14Leu) n.611G>C c.244G>C (p.Val82Leu) c.193G>C (p.Val65Leu) n.581G>C | dbSNP |