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.66851149G>A | CA381493667 | PC | c.2114C>T (p.Ser705Leu) n.290-1084C>T c.*123C>T (n.*123C>T) c.*590C>T (n.*590C>T) n.727C>T c.593C>T (p.Ser198Leu) c.818C>T (p.Ser273Leu) c.749C>T (p.Ser250Leu) | gnomAD v4 |
| 11 | g.66851149G>C | CA381493668 | PC | c.2114C>G (p.Ser705Ter) n.290-1084C>G c.*123C>G (n.*123C>G) c.*590C>G (n.*590C>G) n.727C>G c.593C>G (p.Ser198Ter) c.818C>G (p.Ser273Ter) c.749C>G (p.Ser250Ter) | COSMIC |
| 11 | g.66851149G= | CA1979880710 | PC | c.2114C= (p.Ser705=) n.290-1084C= c.*123C= (n.*123C=) c.*590C= (n.*590C=) n.727C= c.593C= (p.Ser198=) c.818C= (p.Ser273=) c.749C= (p.Ser250=) | |
| 11 | g.66851149G>T | CA341756 | PC | c.2114C>A (p.Ser705Ter) n.290-1084C>A c.*123C>A (n.*123C>A) c.*590C>A (n.*590C>A) n.727C>A c.593C>A (p.Ser198Ter) c.818C>A (p.Ser273Ter) c.749C>A (p.Ser250Ter) | ClinVar dbSNP |
| 11 | g.66851151_66851152del | CA2580615734 | PC | c.2113_2114del (p.Ser705IlefsTer?) n.290-1085_290-1084del c.*122_*123del (n.*122_*123del) c.*589_*590del (n.*589_*590del) n.726_727del c.592_593del (p.Ser198IlefsTer?) c.817_818del (p.Ser273IlefsTer?) c.748_749del (p.Ser250IlefsTer?) | ClinVar |
| 11 | g.66851150A>C | CA381493671 | PC | c.2113T>G (p.Ser705Ala) n.290-1085T>G c.*122T>G (n.*122T>G) c.*589T>G (n.*589T>G) n.726T>G c.592T>G (p.Ser198Ala) c.817T>G (p.Ser273Ala) c.748T>G (p.Ser250Ala) | |
| 11 | g.66851150A>G | CA381493669 | PC | c.2113T>C (p.Ser705Pro) n.290-1085T>C c.*122T>C (n.*122T>C) c.*589T>C (n.*589T>C) n.726T>C c.592T>C (p.Ser198Pro) c.817T>C (p.Ser273Pro) c.748T>C (p.Ser250Pro) | |
| 11 | g.66851150A>T | CA381493670 | PC | c.2113T>A (p.Ser705Thr) n.290-1085T>A c.*122T>A (n.*122T>A) c.*589T>A (n.*589T>A) n.726T>A c.592T>A (p.Ser198Thr) c.817T>A (p.Ser273Thr) c.748T>A (p.Ser250Thr) | |
| 11 | g.66851151G>A | CA475500989 | PC | c.2112C>T (p.Ile704=) n.290-1086C>T c.*121C>T (n.*121C>T) c.*588C>T (n.*588C>T) n.725C>T c.591C>T (p.Ile197=) c.816C>T (p.Ile272=) c.747C>T (p.Ile249=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66851151G>C | CA381493672 | PC | c.2112C>G (p.Ile704Met) n.290-1086C>G c.*121C>G (n.*121C>G) c.*588C>G (n.*588C>G) n.725C>G c.591C>G (p.Ile197Met) c.816C>G (p.Ile272Met) c.747C>G (p.Ile249Met) | |
| 11 | g.66851151G= | CA1979880714 | PC | c.2112C= (p.Ile704=) n.290-1086C= c.*121C= (n.*121C=) c.*588C= (n.*588C=) n.725C= c.591C= (p.Ile197=) c.816C= (p.Ile272=) c.747C= (p.Ile249=) | |
| 11 | g.66851151G>T | CA475500990 | PC | c.2112C>A (p.Ile704=) n.290-1086C>A c.*121C>A (n.*121C>A) c.*588C>A (n.*588C>A) n.725C>A c.591C>A (p.Ile197=) c.816C>A (p.Ile272=) c.747C>A (p.Ile249=) | |
| 11 | g.66851152A>C | CA381493673 | PC | c.2111T>G (p.Ile704Ser) n.290-1087T>G c.*120T>G (n.*120T>G) c.*587T>G (n.*587T>G) n.724T>G c.590T>G (p.Ile197Ser) c.815T>G (p.Ile272Ser) c.746T>G (p.Ile249Ser) | |
| 11 | g.66851152A>G | CA381493674 | PC | c.2111T>C (p.Ile704Thr) n.290-1087T>C c.*120T>C (n.*120T>C) c.*587T>C (n.*587T>C) n.724T>C c.590T>C (p.Ile197Thr) c.815T>C (p.Ile272Thr) c.746T>C (p.Ile249Thr) | gnomAD v4 |
| 11 | g.66851152A>T | CA381493675 | PC | c.2111T>A (p.Ile704Asn) n.290-1087T>A c.*120T>A (n.*120T>A) c.*587T>A (n.*587T>A) n.724T>A c.590T>A (p.Ile197Asn) c.815T>A (p.Ile272Asn) c.746T>A (p.Ile249Asn) | |
| 11 | g.66851153T>A | CA381493676 | PC | c.2110A>T (p.Ile704Phe) n.290-1088A>T c.*119A>T (n.*119A>T) c.*586A>T (n.*586A>T) n.723A>T c.589A>T (p.Ile197Phe) c.814A>T (p.Ile272Phe) c.745A>T (p.Ile249Phe) | gnomAD v4 |
| 11 | g.66851153T>C | CA6131173 | PC | c.2110A>G (p.Ile704Val) n.290-1088A>G c.*119A>G (n.*119A>G) c.*586A>G (n.*586A>G) n.723A>G c.589A>G (p.Ile197Val) c.814A>G (p.Ile272Val) c.745A>G (p.Ile249Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.66851153T>G | CA381493677 | PC | c.2110A>C (p.Ile704Leu) n.290-1088A>C c.*119A>C (n.*119A>C) c.*586A>C (n.*586A>C) n.723A>C c.589A>C (p.Ile197Leu) c.814A>C (p.Ile272Leu) c.745A>C (p.Ile249Leu) | |
| 11 | g.66851153T= | CA1979880717 | PC | c.2110A= (p.Ile704=) n.290-1088A= c.*119A= (n.*119A=) c.*586A= (n.*586A=) n.723A= c.589A= (p.Ile197=) c.814A= (p.Ile272=) c.745A= (p.Ile249=) | |
| 11 | g.66851154G>A | CA475500991 | PC | c.2109C>T (p.Ala703=) n.290-1089C>T c.*118C>T (n.*118C>T) c.*585C>T (n.*585C>T) n.722C>T c.588C>T (p.Ala196=) c.813C>T (p.Ala271=) c.744C>T (p.Ala248=) | dbSNP gnomAD v2 |
| 11 | g.66851154G>C | CA475500992 | PC | c.2109C>G (p.Ala703=) n.290-1089C>G c.*118C>G (n.*118C>G) c.*585C>G (n.*585C>G) n.722C>G c.588C>G (p.Ala196=) c.813C>G (p.Ala271=) c.744C>G (p.Ala248=) | |
| 11 | g.66851154G= | CA1979880719 | PC | c.2109C= (p.Ala703=) n.290-1089C= c.*118C= (n.*118C=) c.*585C= (n.*585C=) n.722C= c.588C= (p.Ala196=) c.813C= (p.Ala271=) c.744C= (p.Ala248=) | |
| 11 | g.66851154G>T | CA475500993 | PC | c.2109C>A (p.Ala703=) n.290-1089C>A c.*118C>A (n.*118C>A) c.*585C>A (n.*585C>A) n.722C>A c.588C>A (p.Ala196=) c.813C>A (p.Ala271=) c.744C>A (p.Ala248=) | |
| 11 | g.66851155G>A | CA381493678 | PC | c.2108C>T (p.Ala703Val) n.290-1090C>T c.*117C>T (n.*117C>T) c.*584C>T (n.*584C>T) n.721C>T c.587C>T (p.Ala196Val) c.812C>T (p.Ala271Val) c.743C>T (p.Ala248Val) | |
| 11 | g.66851155G>C | CA381493679 | PC | c.2108C>G (p.Ala703Gly) n.290-1090C>G c.*117C>G (n.*117C>G) c.*584C>G (n.*584C>G) n.721C>G c.587C>G (p.Ala196Gly) c.812C>G (p.Ala271Gly) c.743C>G (p.Ala248Gly) | |
| 11 | g.66851155G>T | CA381493680 | PC | c.2108C>A (p.Ala703Asp) n.290-1090C>A c.*117C>A (n.*117C>A) c.*584C>A (n.*584C>A) n.721C>A c.587C>A (p.Ala196Asp) c.812C>A (p.Ala271Asp) c.743C>A (p.Ala248Asp) | gnomAD v4 |
| 11 | g.66851156C>A | CA381493683 | PC | c.2107G>T (p.Ala703Ser) n.290-1091G>T c.*116G>T (n.*116G>T) c.*583G>T (n.*583G>T) n.720G>T c.586G>T (p.Ala196Ser) c.811G>T (p.Ala271Ser) c.742G>T (p.Ala248Ser) | |
| 11 | g.66851156C>G | CA381493682 | PC | c.2107G>C (p.Ala703Pro) n.290-1091G>C c.*116G>C (n.*116G>C) c.*583G>C (n.*583G>C) n.720G>C c.586G>C (p.Ala196Pro) c.811G>C (p.Ala271Pro) c.742G>C (p.Ala248Pro) | |
| 11 | g.66851156C>T | CA381493681 | PC | c.2107G>A (p.Ala703Thr) n.290-1091G>A c.*116G>A (n.*116G>A) c.*583G>A (n.*583G>A) n.720G>A c.586G>A (p.Ala196Thr) c.811G>A (p.Ala271Thr) c.742G>A (p.Ala248Thr) | gnomAD v4 |
| 11 | g.66851157A>C | CA475500994 | PC | c.2106T>G (p.Ala702=) n.290-1092T>G c.*115T>G (n.*115T>G) c.*582T>G (n.*582T>G) n.719T>G c.585T>G (p.Ala195=) c.810T>G (p.Ala270=) c.741T>G (p.Ala247=) | |
| 11 | g.66851157A>G | CA475500995 | PC | c.2106T>C (p.Ala702=) n.290-1092T>C c.*115T>C (n.*115T>C) c.*582T>C (n.*582T>C) n.719T>C c.585T>C (p.Ala195=) c.810T>C (p.Ala270=) c.741T>C (p.Ala247=) | |
| 11 | g.66851157A>T | CA475500996 | PC | c.2106T>A (p.Ala702=) n.290-1092T>A c.*115T>A (n.*115T>A) c.*582T>A (n.*582T>A) n.719T>A c.585T>A (p.Ala195=) c.810T>A (p.Ala270=) c.741T>A (p.Ala247=) | |
| 11 | g.66851158G>A | CA381493684 | PC | c.2105C>T (p.Ala702Val) n.290-1093C>T c.*114C>T (n.*114C>T) c.*581C>T (n.*581C>T) n.718C>T c.584C>T (p.Ala195Val) c.809C>T (p.Ala270Val) c.740C>T (p.Ala247Val) | |
| 11 | g.66851158G>C | CA381493685 | PC | c.2105C>G (p.Ala702Gly) n.290-1093C>G c.*114C>G (n.*114C>G) c.*581C>G (n.*581C>G) n.718C>G c.584C>G (p.Ala195Gly) c.809C>G (p.Ala270Gly) c.740C>G (p.Ala247Gly) | |
| 11 | g.66851158G>T | CA381493686 | PC | c.2105C>A (p.Ala702Asp) n.290-1093C>A c.*114C>A (n.*114C>A) c.*581C>A (n.*581C>A) n.718C>A c.584C>A (p.Ala195Asp) c.809C>A (p.Ala270Asp) c.740C>A (p.Ala247Asp) | gnomAD v4 |
| 11 | g.66851159C>A | CA381493687 | PC | c.2104G>T (p.Ala702Ser) n.290-1094G>T c.*113G>T (n.*113G>T) c.*580G>T (n.*580G>T) n.717G>T c.583G>T (p.Ala195Ser) c.808G>T (p.Ala270Ser) c.739G>T (p.Ala247Ser) | |
| 11 | g.66851159C>G | CA381493688 | PC | c.2104G>C (p.Ala702Pro) n.290-1094G>C c.*113G>C (n.*113G>C) c.*580G>C (n.*580G>C) n.717G>C c.583G>C (p.Ala195Pro) c.808G>C (p.Ala270Pro) c.739G>C (p.Ala247Pro) | |
| 11 | g.66851159C>T | CA381493689 | PC | c.2104G>A (p.Ala702Thr) n.290-1094G>A c.*113G>A (n.*113G>A) c.*580G>A (n.*580G>A) n.717G>A c.583G>A (p.Ala195Thr) c.808G>A (p.Ala270Thr) c.739G>A (p.Ala247Thr) | gnomAD v4 COSMIC |
| 11 | g.66851160C>A | CA381493691 | PC | c.2103G>T (p.Glu701Asp) n.290-1095G>T c.*112G>T (n.*112G>T) c.*579G>T (n.*579G>T) n.716G>T c.582G>T (p.Glu194Asp) c.807G>T (p.Glu269Asp) c.738G>T (p.Glu246Asp) | |
| 11 | g.66851160C>G | CA381493690 | PC | c.2103G>C (p.Glu701Asp) n.290-1095G>C c.*112G>C (n.*112G>C) c.*579G>C (n.*579G>C) n.716G>C c.582G>C (p.Glu194Asp) c.807G>C (p.Glu269Asp) c.738G>C (p.Glu246Asp) | |
| 11 | g.66851160C>T | CA475500997 | PC | c.2103G>A (p.Glu701=) n.290-1095G>A c.*112G>A (n.*112G>A) c.*579G>A (n.*579G>A) n.716G>A c.582G>A (p.Glu194=) c.807G>A (p.Glu269=) c.738G>A (p.Glu246=) | ClinVar gnomAD v4 |
| 11 | g.66851161T>A | CA381493692 | PC | c.2102A>T (p.Glu701Val) n.290-1096A>T c.*111A>T (n.*111A>T) c.*578A>T (n.*578A>T) n.715A>T c.581A>T (p.Glu194Val) c.806A>T (p.Glu269Val) c.737A>T (p.Glu246Val) | |
| 11 | g.66851161T>C | CA381493693 | PC | c.2102A>G (p.Glu701Gly) n.290-1096A>G c.*111A>G (n.*111A>G) c.*578A>G (n.*578A>G) n.715A>G c.581A>G (p.Glu194Gly) c.806A>G (p.Glu269Gly) c.737A>G (p.Glu246Gly) | |
| 11 | g.66851161T>G | CA381493694 | PC | c.2102A>C (p.Glu701Ala) n.290-1096A>C c.*111A>C (n.*111A>C) c.*578A>C (n.*578A>C) n.715A>C c.581A>C (p.Glu194Ala) c.806A>C (p.Glu269Ala) c.737A>C (p.Glu246Ala) | |
| 11 | g.66851162C>A | CA381493695 | PC | c.2101G>T (p.Glu701Ter) n.290-1097G>T c.*110G>T (n.*110G>T) c.*577G>T (n.*577G>T) n.714G>T c.580G>T (p.Glu194Ter) c.805G>T (p.Glu269Ter) c.736G>T (p.Glu246Ter) | |
| 11 | g.66851162C= | CA1979880721 | PC | c.2101G= (p.Glu701=) n.290-1097G= c.*110G= (n.*110G=) c.*577G= (n.*577G=) n.714G= c.580G= (p.Glu194=) c.805G= (p.Glu269=) c.736G= (p.Glu246=) | |
| 11 | g.66851162C>G | CA381493696 | PC | c.2101G>C (p.Glu701Gln) n.290-1097G>C c.*110G>C (n.*110G>C) c.*577G>C (n.*577G>C) n.714G>C c.580G>C (p.Glu194Gln) c.805G>C (p.Glu269Gln) c.736G>C (p.Glu246Gln) | |
| 11 | g.66851162C>T | CA381493697 | PC | c.2101G>A (p.Glu701Lys) n.290-1097G>A c.*110G>A (n.*110G>A) c.*577G>A (n.*577G>A) n.714G>A c.580G>A (p.Glu194Lys) c.805G>A (p.Glu269Lys) c.736G>A (p.Glu246Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66851163C>A | CA475500998 | PC | c.2100G>T (p.Val700=) n.290-1098G>T c.*109G>T (n.*109G>T) c.*576G>T (n.*576G>T) n.713G>T c.579G>T (p.Val193=) c.804G>T (p.Val268=) c.735G>T (p.Val245=) | ClinVar |
| 11 | g.66851163C>G | CA475500999 | PC | c.2100G>C (p.Val700=) n.290-1098G>C c.*109G>C (n.*109G>C) c.*576G>C (n.*576G>C) n.713G>C c.579G>C (p.Val193=) c.804G>C (p.Val268=) c.735G>C (p.Val245=) | |
| 11 | g.66851163C>T | CA475501000 | PC | c.2100G>A (p.Val700=) n.290-1098G>A c.*109G>A (n.*109G>A) c.*576G>A (n.*576G>A) n.713G>A c.579G>A (p.Val193=) c.804G>A (p.Val268=) c.735G>A (p.Val245=) | gnomAD v4 |
| 11 | g.66851164A= | CA1979880726 | PC | c.2099T= (p.Val700=) n.290-1099T= c.*108T= (n.*108T=) c.*575T= (n.*575T=) n.712T= c.578T= (p.Val193=) c.803T= (p.Val268=) c.734T= (p.Val245=) | |
| 11 | g.66851164A>C | CA381493698 | PC | c.2099T>G (p.Val700Gly) n.290-1099T>G c.*108T>G (n.*108T>G) c.*575T>G (n.*575T>G) n.712T>G c.578T>G (p.Val193Gly) c.803T>G (p.Val268Gly) c.734T>G (p.Val245Gly) | dbSNP |
| 11 | g.66851164A>G | CA381493700 | PC | c.2099T>C (p.Val700Ala) n.290-1099T>C c.*108T>C (n.*108T>C) c.*575T>C (n.*575T>C) n.712T>C c.578T>C (p.Val193Ala) c.803T>C (p.Val268Ala) c.734T>C (p.Val245Ala) | |
| 11 | g.66851164A>T | CA381493699 | PC | c.2099T>A (p.Val700Glu) n.290-1099T>A c.*108T>A (n.*108T>A) c.*575T>A (n.*575T>A) n.712T>A c.578T>A (p.Val193Glu) c.803T>A (p.Val268Glu) c.734T>A (p.Val245Glu) | |
| 11 | g.66851165C>A | CA381493701 | PC | c.2098G>T (p.Val700Leu) n.290-1100G>T c.*107G>T (n.*107G>T) c.*574G>T (n.*574G>T) n.711G>T c.577G>T (p.Val193Leu) c.802G>T (p.Val268Leu) c.733G>T (p.Val245Leu) | gnomAD v4 |
| 11 | g.66851165C>G | CA381493702 | PC | c.2098G>C (p.Val700Leu) n.290-1100G>C c.*107G>C (n.*107G>C) c.*574G>C (n.*574G>C) n.711G>C c.577G>C (p.Val193Leu) c.802G>C (p.Val268Leu) c.733G>C (p.Val245Leu) | |
| 11 | g.66851165C>T | CA381493703 | PC | c.2098G>A (p.Val700Met) n.290-1100G>A c.*107G>A (n.*107G>A) c.*574G>A (n.*574G>A) n.711G>A c.577G>A (p.Val193Met) c.802G>A (p.Val268Met) c.733G>A (p.Val245Met) | gnomAD v4 |
| 11 | g.66851166C>A | CA475501003 | PC | c.2097G>T (p.Val699=) n.290-1101G>T c.*106G>T (n.*106G>T) c.*573G>T (n.*573G>T) n.710G>T c.576G>T (p.Val192=) c.801G>T (p.Val267=) c.732G>T (p.Val244=) | |
| 11 | g.66851166C>G | CA475501001 | PC | c.2097G>C (p.Val699=) n.290-1101G>C c.*106G>C (n.*106G>C) c.*573G>C (n.*573G>C) n.710G>C c.576G>C (p.Val192=) c.801G>C (p.Val267=) c.732G>C (p.Val244=) | gnomAD v4 |
| 11 | g.66851166C>T | CA475501002 | PC | c.2097G>A (p.Val699=) n.290-1101G>A c.*106G>A (n.*106G>A) c.*573G>A (n.*573G>A) n.710G>A c.576G>A (p.Val192=) c.801G>A (p.Val267=) c.732G>A (p.Val244=) | |
| 11 | g.66851167A= | CA1979880731 | PC | c.2096T= (p.Val699=) n.290-1102T= c.*105T= (n.*105T=) c.*572T= (n.*572T=) n.709T= c.575T= (p.Val192=) c.800T= (p.Val267=) c.731T= (p.Val244=) | |
| 11 | g.66851167A>C | CA381493704 | PC | c.2096T>G (p.Val699Gly) n.290-1102T>G c.*105T>G (n.*105T>G) c.*572T>G (n.*572T>G) n.709T>G c.575T>G (p.Val192Gly) c.800T>G (p.Val267Gly) c.731T>G (p.Val244Gly) | gnomAD v4 |
| 11 | g.66851167A>G | CA381493705 | PC | c.2096T>C (p.Val699Ala) n.290-1102T>C c.*105T>C (n.*105T>C) c.*572T>C (n.*572T>C) n.709T>C c.575T>C (p.Val192Ala) c.800T>C (p.Val267Ala) c.731T>C (p.Val244Ala) | dbSNP |
| 11 | g.66851167A>T | CA381493706 | PC | c.2096T>A (p.Val699Glu) n.290-1102T>A c.*105T>A (n.*105T>A) c.*572T>A (n.*572T>A) n.709T>A c.575T>A (p.Val192Glu) c.800T>A (p.Val267Glu) c.731T>A (p.Val244Glu) | |
| 11 | g.66851168C>A | CA064739 | PC | c.2095G>T (p.Val699Leu) n.290-1103G>T c.*104G>T (n.*104G>T) c.*571G>T (n.*571G>T) n.708G>T c.574G>T (p.Val192Leu) c.799G>T (p.Val267Leu) c.730G>T (p.Val244Leu) | dbSNP |
| 11 | g.66851168C= | CA1979880738 | PC | c.2095G= (p.Val699=) n.290-1103G= c.*104G= (n.*104G=) c.*571G= (n.*571G=) n.708G= c.574G= (p.Val192=) c.799G= (p.Val267=) c.730G= (p.Val244=) | |
| 11 | g.66851168C>G | CA381493707 | PC | c.2095G>C (p.Val699Leu) n.290-1103G>C c.*104G>C (n.*104G>C) c.*571G>C (n.*571G>C) n.708G>C c.574G>C (p.Val192Leu) c.799G>C (p.Val267Leu) c.730G>C (p.Val244Leu) | |
| 11 | g.66851168C>T | CA064915 | PC | c.2095G>A (p.Val699Met) n.290-1103G>A c.*104G>A (n.*104G>A) c.*571G>A (n.*571G>A) n.708G>A c.574G>A (p.Val192Met) c.799G>A (p.Val267Met) c.730G>A (p.Val244Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66851169G>A | CA6131174 | PC | c.2094C>T (p.Gly698=) n.290-1104C>T c.*103C>T (n.*103C>T) c.*570C>T (n.*570C>T) n.707C>T c.573C>T (p.Gly191=) c.798C>T (p.Gly266=) c.729C>T (p.Gly243=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66851169G>C | CA475501004 | PC | c.2094C>G (p.Gly698=) n.290-1104C>G c.*103C>G (n.*103C>G) c.*570C>G (n.*570C>G) n.707C>G c.573C>G (p.Gly191=) c.798C>G (p.Gly266=) c.729C>G (p.Gly243=) | gnomAD v4 |
| 11 | g.66851169G= | CA1979880743 | PC | c.2094C= (p.Gly698=) n.290-1104C= c.*103C= (n.*103C=) c.*570C= (n.*570C=) n.707C= c.573C= (p.Gly191=) c.798C= (p.Gly266=) c.729C= (p.Gly243=) | |
| 11 | g.66851169G>T | CA475501005 | PC | c.2094C>A (p.Gly698=) n.290-1104C>A c.*103C>A (n.*103C>A) c.*570C>A (n.*570C>A) n.707C>A c.573C>A (p.Gly191=) c.798C>A (p.Gly266=) c.729C>A (p.Gly243=) | |
| 11 | g.66851170C>A | CA381493710 | PC | c.2093G>T (p.Gly698Val) n.290-1105G>T c.*102G>T (n.*102G>T) c.*569G>T (n.*569G>T) n.706G>T c.572G>T (p.Gly191Val) c.797G>T (p.Gly266Val) c.728G>T (p.Gly243Val) | |
| 11 | g.66851170C= | CA1979880749 | PC | c.2093G= (p.Gly698=) n.290-1105G= c.*102G= (n.*102G=) c.*569G= (n.*569G=) n.706G= c.572G= (p.Gly191=) c.797G= (p.Gly266=) c.728G= (p.Gly243=) | |
| 11 | g.66851170C>G | CA381493709 | PC | c.2093G>C (p.Gly698Ala) n.290-1105G>C c.*102G>C (n.*102G>C) c.*569G>C (n.*569G>C) n.706G>C c.572G>C (p.Gly191Ala) c.797G>C (p.Gly266Ala) c.728G>C (p.Gly243Ala) | |
| 11 | g.66851170C>T | CA381493708 | PC | c.2093G>A (p.Gly698Asp) n.290-1105G>A c.*102G>A (n.*102G>A) c.*569G>A (n.*569G>A) n.706G>A c.572G>A (p.Gly191Asp) c.797G>A (p.Gly266Asp) c.728G>A (p.Gly243Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66851171C>A | CA381493711 | PC | c.2092G>T (p.Gly698Cys) n.290-1106G>T c.*101G>T (n.*101G>T) c.*568G>T (n.*568G>T) n.705G>T c.571G>T (p.Gly191Cys) c.796G>T (p.Gly266Cys) c.727G>T (p.Gly243Cys) | |
| 11 | g.66851171C= | CA1979880751 | PC | c.2092G= (p.Gly698=) n.290-1106G= c.*101G= (n.*101G=) c.*568G= (n.*568G=) n.705G= c.571G= (p.Gly191=) c.796G= (p.Gly266=) c.727G= (p.Gly243=) | |
| 11 | g.66851171C>G | CA381493713 | PC | c.2092G>C (p.Gly698Arg) n.290-1106G>C c.*101G>C (n.*101G>C) c.*568G>C (n.*568G>C) n.705G>C c.571G>C (p.Gly191Arg) c.796G>C (p.Gly266Arg) c.727G>C (p.Gly243Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66851171C>T | CA381493712 | PC | c.2092G>A (p.Gly698Ser) n.290-1106G>A c.*101G>A (n.*101G>A) c.*568G>A (n.*568G>A) n.705G>A c.571G>A (p.Gly191Ser) c.796G>A (p.Gly266Ser) c.727G>A (p.Gly243Ser) | |
| 11 | g.66851172T>A | CA475501007 | PC | c.2091A>T (p.Gly697=) n.290-1107A>T c.*100A>T (n.*100A>T) c.*567A>T (n.*567A>T) n.704A>T c.570A>T (p.Gly190=) c.795A>T (p.Gly265=) c.726A>T (p.Gly242=) | |
| 11 | g.66851172T>C | CA475501006 | PC | c.2091A>G (p.Gly697=) n.290-1107A>G c.*100A>G (n.*100A>G) c.*567A>G (n.*567A>G) n.704A>G c.570A>G (p.Gly190=) c.795A>G (p.Gly265=) c.726A>G (p.Gly242=) | gnomAD v4 |
| 11 | g.66851172T>G | CA475501008 | PC | c.2091A>C (p.Gly697=) n.290-1107A>C c.*100A>C (n.*100A>C) c.*567A>C (n.*567A>C) n.704A>C c.570A>C (p.Gly190=) c.795A>C (p.Gly265=) c.726A>C (p.Gly242=) | |
| 11 | g.66851173C>A | CA381493714 | PC | c.2090G>T (p.Gly697Val) n.290-1108G>T c.*99G>T (n.*99G>T) c.*566G>T (n.*566G>T) n.703G>T c.569G>T (p.Gly190Val) c.794G>T (p.Gly265Val) c.725G>T (p.Gly242Val) | |
| 11 | g.66851173C>G | CA381493715 | PC | c.2090G>C (p.Gly697Ala) n.290-1108G>C c.*99G>C (n.*99G>C) c.*566G>C (n.*566G>C) n.703G>C c.569G>C (p.Gly190Ala) c.794G>C (p.Gly265Ala) c.725G>C (p.Gly242Ala) | |
| 11 | g.66851173C>T | CA381493716 | PC | c.2090G>A (p.Gly697Glu) n.290-1108G>A c.*99G>A (n.*99G>A) c.*566G>A (n.*566G>A) n.703G>A c.569G>A (p.Gly190Glu) c.794G>A (p.Gly265Glu) c.725G>A (p.Gly242Glu) | |
| 11 | g.66851174C>A | CA381493717 | PC | c.2089G>T (p.Gly697Ter) n.290-1109G>T c.*98G>T (n.*98G>T) c.*565G>T (n.*565G>T) n.702G>T c.568G>T (p.Gly190Ter) c.793G>T (p.Gly265Ter) c.724G>T (p.Gly242Ter) | |
| 11 | g.66851174C= | CA1979880755 | PC | c.2089G= (p.Gly697=) n.290-1109G= c.*98G= (n.*98G=) c.*565G= (n.*565G=) n.702G= c.568G= (p.Gly190=) c.793G= (p.Gly265=) c.724G= (p.Gly242=) | |
| 11 | g.66851174C>G | CA381493718 | PC | c.2089G>C (p.Gly697Arg) n.290-1109G>C c.*98G>C (n.*98G>C) c.*565G>C (n.*565G>C) n.702G>C c.568G>C (p.Gly190Arg) c.793G>C (p.Gly265Arg) c.724G>C (p.Gly242Arg) | |
| 11 | g.66851174C>T | CA6131175 | PC | c.2089G>A (p.Gly697Arg) n.290-1109G>A c.*98G>A (n.*98G>A) c.*565G>A (n.*565G>A) n.702G>A c.568G>A (p.Gly190Arg) c.793G>A (p.Gly265Arg) c.724G>A (p.Gly242Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66851175G>A | CA224123084 | PC | c.2088C>T (p.Ala696=) n.290-1110C>T c.*97C>T (n.*97C>T) c.*564C>T (n.*564C>T) n.701C>T c.567C>T (p.Ala189=) c.792C>T (p.Ala264=) c.723C>T (p.Ala241=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66851175G>C | CA475501009 | PC | c.2088C>G (p.Ala696=) n.290-1110C>G c.*97C>G (n.*97C>G) c.*564C>G (n.*564C>G) n.701C>G c.567C>G (p.Ala189=) c.792C>G (p.Ala264=) c.723C>G (p.Ala241=) | |
| 11 | g.66851175G= | CA1979880759 | PC | c.2088C= (p.Ala696=) n.290-1110C= c.*97C= (n.*97C=) c.*564C= (n.*564C=) n.701C= c.567C= (p.Ala189=) c.792C= (p.Ala264=) c.723C= (p.Ala241=) | |
| 11 | g.66851175G>T | CA475501010 | PC | c.2088C>A (p.Ala696=) n.290-1110C>A c.*97C>A (n.*97C>A) c.*564C>A (n.*564C>A) n.701C>A c.567C>A (p.Ala189=) c.792C>A (p.Ala264=) c.723C>A (p.Ala241=) | gnomAD v4 |
| 11 | g.66851176G>A | CA381493719 | PC | c.2087C>T (p.Ala696Val) n.290-1111C>T c.*96C>T (n.*96C>T) c.*563C>T (n.*563C>T) n.700C>T c.566C>T (p.Ala189Val) c.791C>T (p.Ala264Val) c.722C>T (p.Ala241Val) | |
| 11 | g.66851176G>C | CA381493720 | PC | c.2087C>G (p.Ala696Gly) n.290-1111C>G c.*96C>G (n.*96C>G) c.*563C>G (n.*563C>G) n.700C>G c.566C>G (p.Ala189Gly) c.791C>G (p.Ala264Gly) c.722C>G (p.Ala241Gly) | |
| 11 | g.66851176G>T | CA381493721 | PC | c.2087C>A (p.Ala696Asp) n.290-1111C>A c.*96C>A (n.*96C>A) c.*563C>A (n.*563C>A) n.700C>A c.566C>A (p.Ala189Asp) c.791C>A (p.Ala264Asp) c.722C>A (p.Ala241Asp) | gnomAD v4 |
| 11 | g.66851177C>A | CA381493722 | PC | c.2086G>T (p.Ala696Ser) n.290-1112G>T c.*95G>T (n.*95G>T) c.*562G>T (n.*562G>T) n.699G>T c.565G>T (p.Ala189Ser) c.790G>T (p.Ala264Ser) c.721G>T (p.Ala241Ser) | |
| 11 | g.66851177C>G | CA381493723 | PC | c.2086G>C (p.Ala696Pro) n.290-1112G>C c.*95G>C (n.*95G>C) c.*562G>C (n.*562G>C) n.699G>C c.565G>C (p.Ala189Pro) c.790G>C (p.Ala264Pro) c.721G>C (p.Ala241Pro) | |
| 11 | g.66851177C>T | CA381493724 | PC | c.2086G>A (p.Ala696Thr) n.290-1112G>A c.*95G>A (n.*95G>A) c.*562G>A (n.*562G>A) n.699G>A c.565G>A (p.Ala189Thr) c.790G>A (p.Ala264Thr) c.721G>A (p.Ala241Thr) | gnomAD v4 |
| 11 | g.66851178A>C | CA381493726 | PC | c.2085T>G (p.Ser695Arg) n.290-1113T>G c.*94T>G (n.*94T>G) c.*561T>G (n.*561T>G) n.698T>G c.564T>G (p.Ser188Arg) c.789T>G (p.Ser263Arg) c.720T>G (p.Ser240Arg) | |
| 11 | g.66851178A>G | CA475501011 | PC | c.2085T>C (p.Ser695=) n.290-1113T>C c.*94T>C (n.*94T>C) c.*561T>C (n.*561T>C) n.698T>C c.564T>C (p.Ser188=) c.789T>C (p.Ser263=) c.720T>C (p.Ser240=) | ClinVar dbSNP |
| 11 | g.66851178A>T | CA381493725 | PC | c.2085T>A (p.Ser695Arg) n.290-1113T>A c.*94T>A (n.*94T>A) c.*561T>A (n.*561T>A) n.698T>A c.564T>A (p.Ser188Arg) c.789T>A (p.Ser263Arg) c.720T>A (p.Ser240Arg) | |
| 11 | g.66851179C>A | CA381493727 | PC | c.2084G>T (p.Ser695Ile) n.290-1114G>T c.*93G>T (n.*93G>T) c.*560G>T (n.*560G>T) n.697G>T c.563G>T (p.Ser188Ile) c.788G>T (p.Ser263Ile) c.719G>T (p.Ser240Ile) | |
| 11 | g.66851179C= | CA1979880761 | PC | c.2084G= (p.Ser695=) n.290-1114G= c.*93G= (n.*93G=) c.*560G= (n.*560G=) n.697G= c.563G= (p.Ser188=) c.788G= (p.Ser263=) c.719G= (p.Ser240=) | |
| 11 | g.66851179C>G | CA6131176 | PC | c.2084G>C (p.Ser695Thr) n.290-1114G>C c.*93G>C (n.*93G>C) c.*560G>C (n.*560G>C) n.697G>C c.563G>C (p.Ser188Thr) c.788G>C (p.Ser263Thr) c.719G>C (p.Ser240Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66851179C>T | CA381493728 | PC | c.2084G>A (p.Ser695Asn) n.290-1114G>A c.*93G>A (n.*93G>A) c.*560G>A (n.*560G>A) n.697G>A c.563G>A (p.Ser188Asn) c.788G>A (p.Ser263Asn) c.719G>A (p.Ser240Asn) | gnomAD v4 |
| 11 | g.66851180T>A | CA381493729 | PC | c.2083A>T (p.Ser695Cys) n.290-1115A>T c.*92A>T (n.*92A>T) c.*559A>T (n.*559A>T) n.696A>T c.562A>T (p.Ser188Cys) c.787A>T (p.Ser263Cys) c.718A>T (p.Ser240Cys) | |
| 11 | g.66851180T>C | CA6131177 | PC | c.2083A>G (p.Ser695Gly) n.290-1115A>G c.*92A>G (n.*92A>G) c.*559A>G (n.*559A>G) n.696A>G c.562A>G (p.Ser188Gly) c.787A>G (p.Ser263Gly) c.718A>G (p.Ser240Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66851180T>G | CA381493730 | PC | c.2083A>C (p.Ser695Arg) n.290-1115A>C c.*92A>C (n.*92A>C) c.*559A>C (n.*559A>C) n.696A>C c.562A>C (p.Ser188Arg) c.787A>C (p.Ser263Arg) c.718A>C (p.Ser240Arg) | |
| 11 | g.66851180T= | CA1979880766 | PC | c.2083A= (p.Ser695=) n.290-1115A= c.*92A= (n.*92A=) c.*559A= (n.*559A=) n.696A= c.562A= (p.Ser188=) c.787A= (p.Ser263=) c.718A= (p.Ser240=) | |
| 11 | g.66851181T>A | CA475501012 | PC | c.2082A>T (p.Gly694=) n.290-1116A>T c.*91A>T (n.*91A>T) c.*558A>T (n.*558A>T) n.695A>T c.561A>T (p.Gly187=) c.786A>T (p.Gly262=) c.717A>T (p.Gly239=) | |
| 11 | g.66851181T>C | CA475501013 | PC | c.2082A>G (p.Gly694=) n.290-1116A>G c.*91A>G (n.*91A>G) c.*558A>G (n.*558A>G) n.695A>G c.561A>G (p.Gly187=) c.786A>G (p.Gly262=) c.717A>G (p.Gly239=) | |
| 11 | g.66851181T>G | CA475501014 | PC | c.2082A>C (p.Gly694=) n.290-1116A>C c.*91A>C (n.*91A>C) c.*558A>C (n.*558A>C) n.695A>C c.561A>C (p.Gly187=) c.786A>C (p.Gly262=) c.717A>C (p.Gly239=) | |
| 11 | g.66851182C>A | CA381493731 | PC | c.2081G>T (p.Gly694Val) n.290-1117G>T c.*90G>T (n.*90G>T) c.*557G>T (n.*557G>T) n.694G>T c.560G>T (p.Gly187Val) c.785G>T (p.Gly262Val) c.716G>T (p.Gly239Val) | |
| 11 | g.66851182C= | CA1979880771 | PC | c.2081G= (p.Gly694=) n.290-1117G= c.*90G= (n.*90G=) c.*557G= (n.*557G=) n.694G= c.560G= (p.Gly187=) c.785G= (p.Gly262=) c.716G= (p.Gly239=) | |
| 11 | g.66851182C>G | CA381493732 | PC | c.2081G>C (p.Gly694Ala) n.290-1117G>C c.*90G>C (n.*90G>C) c.*557G>C (n.*557G>C) n.694G>C c.560G>C (p.Gly187Ala) c.785G>C (p.Gly262Ala) c.716G>C (p.Gly239Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66851182C>T | CA381493733 | PC | c.2081G>A (p.Gly694Glu) n.290-1117G>A c.*90G>A (n.*90G>A) c.*557G>A (n.*557G>A) n.694G>A c.560G>A (p.Gly187Glu) c.785G>A (p.Gly262Glu) c.716G>A (p.Gly239Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66851183C>A | CA381493734 | PC | c.2080G>T (p.Gly694Ter) n.290-1118G>T c.*89G>T (n.*89G>T) c.*556G>T (n.*556G>T) n.693G>T c.559G>T (p.Gly187Ter) c.784G>T (p.Gly262Ter) c.715G>T (p.Gly239Ter) | |
| 11 | g.66851183C>G | CA381493735 | PC | c.2080G>C (p.Gly694Arg) n.290-1118G>C c.*89G>C (n.*89G>C) c.*556G>C (n.*556G>C) n.693G>C c.559G>C (p.Gly187Arg) c.784G>C (p.Gly262Arg) c.715G>C (p.Gly239Arg) | |
| 11 | g.66851183C>T | CA381493736 | PC | c.2080G>A (p.Gly694Arg) n.290-1118G>A c.*89G>A (n.*89G>A) c.*556G>A (n.*556G>A) n.693G>A c.559G>A (p.Gly187Arg) c.784G>A (p.Gly262Arg) c.715G>A (p.Gly239Arg) | |
| 11 | g.66851184T>A | CA475501015 | PC | c.2079A>T (p.Ala693=) n.290-1119A>T c.*88A>T (n.*88A>T) c.*555A>T (n.*555A>T) n.692A>T c.558A>T (p.Ala186=) c.783A>T (p.Ala261=) c.714A>T (p.Ala238=) | gnomAD v4 |
| 11 | g.66851184T>C | CA475501016 | PC | c.2079A>G (p.Ala693=) n.290-1119A>G c.*88A>G (n.*88A>G) c.*555A>G (n.*555A>G) n.692A>G c.558A>G (p.Ala186=) c.783A>G (p.Ala261=) c.714A>G (p.Ala238=) | gnomAD v4 |
| 11 | g.66851184T>G | CA475501017 | PC | c.2079A>C (p.Ala693=) n.290-1119A>C c.*88A>C (n.*88A>C) c.*555A>C (n.*555A>C) n.692A>C c.558A>C (p.Ala186=) c.783A>C (p.Ala261=) c.714A>C (p.Ala238=) | |
| 11 | g.66851185G>A | CA381493739 | PC | c.2078C>T (p.Ala693Val) n.290-1120C>T c.*87C>T (n.*87C>T) c.*554C>T (n.*554C>T) n.691C>T c.557C>T (p.Ala186Val) c.782C>T (p.Ala261Val) c.713C>T (p.Ala238Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66851185G>C | CA381493738 | PC | c.2078C>G (p.Ala693Gly) n.290-1120C>G c.*87C>G (n.*87C>G) c.*554C>G (n.*554C>G) n.691C>G c.557C>G (p.Ala186Gly) c.782C>G (p.Ala261Gly) c.713C>G (p.Ala238Gly) | |
| 11 | g.66851185G= | CA1979880775 | PC | c.2078C= (p.Ala693=) n.290-1120C= c.*87C= (n.*87C=) c.*554C= (n.*554C=) n.691C= c.557C= (p.Ala186=) c.782C= (p.Ala261=) c.713C= (p.Ala238=) | |
| 11 | g.66851185G>T | CA381493737 | PC | c.2078C>A (p.Ala693Glu) n.290-1120C>A c.*87C>A (n.*87C>A) c.*554C>A (n.*554C>A) n.691C>A c.557C>A (p.Ala186Glu) c.782C>A (p.Ala261Glu) c.713C>A (p.Ala238Glu) | gnomAD v4 |
| 11 | g.66851186C>A | CA381493740 | PC | c.2077G>T (p.Ala693Ser) n.290-1121G>T c.*86G>T (n.*86G>T) c.*553G>T (n.*553G>T) n.690G>T c.556G>T (p.Ala186Ser) c.781G>T (p.Ala261Ser) c.712G>T (p.Ala238Ser) | |
| 11 | g.66851186C>G | CA381493741 | PC | c.2077G>C (p.Ala693Pro) n.290-1121G>C c.*86G>C (n.*86G>C) c.*553G>C (n.*553G>C) n.690G>C c.556G>C (p.Ala186Pro) c.781G>C (p.Ala261Pro) c.712G>C (p.Ala238Pro) | |
| 11 | g.66851186C>T | CA381493742 | PC | c.2077G>A (p.Ala693Thr) n.290-1121G>A c.*86G>A (n.*86G>A) c.*553G>A (n.*553G>A) n.690G>A c.556G>A (p.Ala186Thr) c.781G>A (p.Ala261Thr) c.712G>A (p.Ala238Thr) | |
| 11 | g.66851187C>A | CA475501018 | PC | c.2076G>T (p.Ala692=) n.290-1122G>T c.*85G>T (n.*85G>T) c.*552G>T (n.*552G>T) n.689G>T c.555G>T (p.Ala185=) c.780G>T (p.Ala260=) c.711G>T (p.Ala237=) | |
| 11 | g.66851187C= | CA1979880779 | PC | c.2076G= (p.Ala692=) n.290-1122G= c.*85G= (n.*85G=) c.*552G= (n.*552G=) n.689G= c.555G= (p.Ala185=) c.780G= (p.Ala260=) c.711G= (p.Ala237=) | |
| 11 | g.66851187C>G | CA475501019 | PC | c.2076G>C (p.Ala692=) n.290-1122G>C c.*85G>C (n.*85G>C) c.*552G>C (n.*552G>C) n.689G>C c.555G>C (p.Ala185=) c.780G>C (p.Ala260=) c.711G>C (p.Ala237=) | gnomAD v4 COSMIC |
| 11 | g.66851187C>T | CA6131178 | PC | c.2076G>A (p.Ala692=) n.290-1122G>A c.*85G>A (n.*85G>A) c.*552G>A (n.*552G>A) n.689G>A c.555G>A (p.Ala185=) c.780G>A (p.Ala260=) c.711G>A (p.Ala237=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66851188G>A | CA6131179 | PC | c.2075C>T (p.Ala692Val) n.290-1123C>T c.*84C>T (n.*84C>T) c.*551C>T (n.*551C>T) n.688C>T c.554C>T (p.Ala185Val) c.779C>T (p.Ala260Val) c.710C>T (p.Ala237Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.66851188G>C | CA381493743 | PC | c.2075C>G (p.Ala692Gly) n.290-1123C>G c.*84C>G (n.*84C>G) c.*551C>G (n.*551C>G) n.688C>G c.554C>G (p.Ala185Gly) c.779C>G (p.Ala260Gly) c.710C>G (p.Ala237Gly) | |
| 11 | g.66851188G= | CA1979880784 | PC | c.2075C= (p.Ala692=) n.290-1123C= c.*84C= (n.*84C=) c.*551C= (n.*551C=) n.688C= c.554C= (p.Ala185=) c.779C= (p.Ala260=) c.710C= (p.Ala237=) | |
| 11 | g.66851188G>T | CA381493744 | PC | c.2075C>A (p.Ala692Glu) n.290-1123C>A c.*84C>A (n.*84C>A) c.*551C>A (n.*551C>A) n.688C>A c.554C>A (p.Ala185Glu) c.779C>A (p.Ala260Glu) c.710C>A (p.Ala237Glu) | gnomAD v4 |
| 11 | g.66851189C>A | CA381493745 | PC | c.2074G>T (p.Ala692Ser) n.290-1124G>T c.*83G>T (n.*83G>T) c.*550G>T (n.*550G>T) n.687G>T c.553G>T (p.Ala185Ser) c.778G>T (p.Ala260Ser) c.709G>T (p.Ala237Ser) | |
| 11 | g.66851189C>G | CA381493746 | PC | c.2074G>C (p.Ala692Pro) n.290-1124G>C c.*83G>C (n.*83G>C) c.*550G>C (n.*550G>C) n.687G>C c.553G>C (p.Ala185Pro) c.778G>C (p.Ala260Pro) c.709G>C (p.Ala237Pro) | |
| 11 | g.66851189C>T | CA381493747 | PC | c.2074G>A (p.Ala692Thr) n.290-1124G>A c.*83G>A (n.*83G>A) c.*550G>A (n.*550G>A) n.687G>A c.553G>A (p.Ala185Thr) c.778G>A (p.Ala260Thr) c.709G>A (p.Ala237Thr) | |
| 11 | g.66851190C>A | CA381493748 | PC | c.2073G>T (p.Glu691Asp) n.290-1125G>T c.*82G>T (n.*82G>T) c.*549G>T (n.*549G>T) n.686G>T c.552G>T (p.Glu184Asp) c.777G>T (p.Glu259Asp) c.708G>T (p.Glu236Asp) | |
| 11 | g.66851190C>G | CA381493749 | PC | c.2073G>C (p.Glu691Asp) n.290-1125G>C c.*82G>C (n.*82G>C) c.*549G>C (n.*549G>C) n.686G>C c.552G>C (p.Glu184Asp) c.777G>C (p.Glu259Asp) c.708G>C (p.Glu236Asp) | |
| 11 | g.66851190C>T | CA475501020 | PC | c.2073G>A (p.Glu691=) n.290-1125G>A c.*82G>A (n.*82G>A) c.*549G>A (n.*549G>A) n.686G>A c.552G>A (p.Glu184=) c.777G>A (p.Glu259=) c.708G>A (p.Glu236=) | |
| 11 | g.66851191T>A | CA381493752 | PC | c.2072A>T (p.Glu691Val) n.290-1126A>T c.*81A>T (n.*81A>T) c.*548A>T (n.*548A>T) n.685A>T c.551A>T (p.Glu184Val) c.776A>T (p.Glu259Val) c.707A>T (p.Glu236Val) | |
| 11 | g.66851191T>C | CA381493751 | PC | c.2072A>G (p.Glu691Gly) n.290-1126A>G c.*81A>G (n.*81A>G) c.*548A>G (n.*548A>G) n.685A>G c.551A>G (p.Glu184Gly) c.776A>G (p.Glu259Gly) c.707A>G (p.Glu236Gly) | |
| 11 | g.66851191T>G | CA381493750 | PC | c.2072A>C (p.Glu691Ala) n.290-1126A>C c.*81A>C (n.*81A>C) c.*548A>C (n.*548A>C) n.685A>C c.551A>C (p.Glu184Ala) c.776A>C (p.Glu259Ala) c.707A>C (p.Glu236Ala) | |
| 11 | g.66851192C>A | CA381493753 | PC | c.2071G>T (p.Glu691Ter) n.290-1127G>T c.*80G>T (n.*80G>T) c.*547G>T (n.*547G>T) n.684G>T c.550G>T (p.Glu184Ter) c.775G>T (p.Glu259Ter) c.706G>T (p.Glu236Ter) | |
| 11 | g.66851192C>G | CA381493754 | PC | c.2071G>C (p.Glu691Gln) n.290-1127G>C c.*80G>C (n.*80G>C) c.*547G>C (n.*547G>C) n.684G>C c.550G>C (p.Glu184Gln) c.775G>C (p.Glu259Gln) c.706G>C (p.Glu236Gln) | |
| 11 | g.66851192C>T | CA381493755 | PC | c.2071G>A (p.Glu691Lys) n.290-1127G>A c.*80G>A (n.*80G>A) c.*547G>A (n.*547G>A) n.684G>A c.550G>A (p.Glu184Lys) c.775G>A (p.Glu259Lys) c.706G>A (p.Glu236Lys) | |
| 11 | g.66851193C>A | CA381493756 | PC | c.2070G>T (p.Met690Ile) n.290-1128G>T c.*79G>T (n.*79G>T) c.*546G>T (n.*546G>T) n.683G>T c.549G>T (p.Met183Ile) c.774G>T (p.Met258Ile) c.705G>T (p.Met235Ile) | |
| 11 | g.66851193C>G | CA381493757 | PC | c.2070G>C (p.Met690Ile) n.290-1128G>C c.*79G>C (n.*79G>C) c.*546G>C (n.*546G>C) n.683G>C c.549G>C (p.Met183Ile) c.774G>C (p.Met258Ile) c.705G>C (p.Met235Ile) | |
| 11 | g.66851193C>T | CA381493758 | PC | c.2070G>A (p.Met690Ile) n.290-1128G>A c.*79G>A (n.*79G>A) c.*546G>A (n.*546G>A) n.683G>A c.549G>A (p.Met183Ile) c.774G>A (p.Met258Ile) c.705G>A (p.Met235Ile) | |
| 11 | g.66851194A= | CA1979880787 | PC | c.2069T= (p.Met690=) n.290-1129T= c.*78T= (n.*78T=) c.*545T= (n.*545T=) n.682T= c.548T= (p.Met183=) c.773T= (p.Met258=) c.704T= (p.Met235=) | |
| 11 | g.66851194A>C | CA381493759 | PC | c.2069T>G (p.Met690Arg) n.290-1129T>G c.*78T>G (n.*78T>G) c.*545T>G (n.*545T>G) n.682T>G c.548T>G (p.Met183Arg) c.773T>G (p.Met258Arg) c.704T>G (p.Met235Arg) | |
| 11 | g.66851194A>G | CA6131180 | PC | c.2069T>C (p.Met690Thr) n.290-1129T>C c.*78T>C (n.*78T>C) c.*545T>C (n.*545T>C) n.682T>C c.548T>C (p.Met183Thr) c.773T>C (p.Met258Thr) c.704T>C (p.Met235Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66851194A>T | CA381493760 | PC | c.2069T>A (p.Met690Lys) n.290-1129T>A c.*78T>A (n.*78T>A) c.*545T>A (n.*545T>A) n.682T>A c.548T>A (p.Met183Lys) c.773T>A (p.Met258Lys) c.704T>A (p.Met235Lys) | |
| 11 | g.66851195T>A | CA381493761 | PC | c.2068A>T (p.Met690Leu) n.290-1130A>T c.*77A>T (n.*77A>T) c.*544A>T (n.*544A>T) n.681A>T c.547A>T (p.Met183Leu) c.772A>T (p.Met258Leu) c.703A>T (p.Met235Leu) | |
| 11 | g.66851195T>C | CA381493762 | PC | c.2068A>G (p.Met690Val) n.290-1130A>G c.*77A>G (n.*77A>G) c.*544A>G (n.*544A>G) n.681A>G c.547A>G (p.Met183Val) c.772A>G (p.Met258Val) c.703A>G (p.Met235Val) | gnomAD v4 |
| 11 | g.66851195T>G | CA381493763 | PC | c.2068A>C (p.Met690Leu) n.290-1130A>C c.*77A>C (n.*77A>C) c.*544A>C (n.*544A>C) n.681A>C c.547A>C (p.Met183Leu) c.772A>C (p.Met258Leu) c.703A>C (p.Met235Leu) | gnomAD v4 |
| 11 | g.66851196G>A | CA6131181 | PC | c.2067C>T (p.Gly689=) n.290-1131C>T c.*76C>T (n.*76C>T) c.*543C>T (n.*543C>T) n.680C>T c.546C>T (p.Gly182=) c.771C>T (p.Gly257=) c.702C>T (p.Gly234=) | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.66851196G>C | CA475501021 | PC | c.2067C>G (p.Gly689=) n.290-1131C>G c.*76C>G (n.*76C>G) c.*543C>G (n.*543C>G) n.680C>G c.546C>G (p.Gly182=) c.771C>G (p.Gly257=) c.702C>G (p.Gly234=) | |
| 11 | g.66851196G= | CA1979880790 | PC | c.2067C= (p.Gly689=) n.290-1131C= c.*76C= (n.*76C=) c.*543C= (n.*543C=) n.680C= c.546C= (p.Gly182=) c.771C= (p.Gly257=) c.702C= (p.Gly234=) | |
| 11 | g.66851196G>T | CA475501022 | PC | c.2067C>A (p.Gly689=) n.290-1131C>A c.*76C>A (n.*76C>A) c.*543C>A (n.*543C>A) n.680C>A c.546C>A (p.Gly182=) c.771C>A (p.Gly257=) c.702C>A (p.Gly234=) | gnomAD v4 |
| 11 | g.66851197C>A | CA381493764 | PC | c.2066G>T (p.Gly689Val) n.290-1132G>T c.*75G>T (n.*75G>T) c.*542G>T (n.*542G>T) n.679G>T c.545G>T (p.Gly182Val) c.770G>T (p.Gly257Val) c.701G>T (p.Gly234Val) | |
| 11 | g.66851197C= | CA1979880793 | PC | c.2066G= (p.Gly689=) n.290-1132G= c.*75G= (n.*75G=) c.*542G= (n.*542G=) n.679G= c.545G= (p.Gly182=) c.770G= (p.Gly257=) c.701G= (p.Gly234=) | |
| 11 | g.66851197C>G | CA381493765 | PC | c.2066G>C (p.Gly689Ala) n.290-1132G>C c.*75G>C (n.*75G>C) c.*542G>C (n.*542G>C) n.679G>C c.545G>C (p.Gly182Ala) c.770G>C (p.Gly257Ala) c.701G>C (p.Gly234Ala) | |
| 11 | g.66851197C>T | CA224123108 | PC | c.2066G>A (p.Gly689Asp) n.290-1132G>A c.*75G>A (n.*75G>A) c.*542G>A (n.*542G>A) n.679G>A c.545G>A (p.Gly182Asp) c.770G>A (p.Gly257Asp) c.701G>A (p.Gly234Asp) | dbSNP gnomAD v4 |
| 11 | g.66851198C>A | CA381493767 | PC | c.2065G>T (p.Gly689Cys) n.290-1133G>T c.*74G>T (n.*74G>T) c.*541G>T (n.*541G>T) n.678G>T c.544G>T (p.Gly182Cys) c.769G>T (p.Gly257Cys) c.700G>T (p.Gly234Cys) | |
| 11 | g.66851198C>G | CA381493766 | PC | c.2065G>C (p.Gly689Arg) n.290-1133G>C c.*74G>C (n.*74G>C) c.*541G>C (n.*541G>C) n.678G>C c.544G>C (p.Gly182Arg) c.769G>C (p.Gly257Arg) c.700G>C (p.Gly234Arg) | |
| 11 | g.66851198C>T | CA381493768 | PC | c.2065G>A (p.Gly689Ser) n.290-1133G>A c.*74G>A (n.*74G>A) c.*541G>A (n.*541G>A) n.678G>A c.544G>A (p.Gly182Ser) c.769G>A (p.Gly257Ser) c.700G>A (p.Gly234Ser) | |
| 11 | g.66851199C>A | CA475501023 | PC | c.2064G>T (p.Leu688=) n.290-1134G>T c.*73G>T (n.*73G>T) c.*540G>T (n.*540G>T) n.677G>T c.543G>T (p.Leu181=) c.768G>T (p.Leu256=) c.699G>T (p.Leu233=) | |
| 11 | g.66851199C>G | CA475501025 | PC | c.2064G>C (p.Leu688=) n.290-1134G>C c.*73G>C (n.*73G>C) c.*540G>C (n.*540G>C) n.677G>C c.543G>C (p.Leu181=) c.768G>C (p.Leu256=) c.699G>C (p.Leu233=) | |
| 11 | g.66851199C>T | CA475501024 | PC | c.2064G>A (p.Leu688=) n.290-1134G>A c.*73G>A (n.*73G>A) c.*540G>A (n.*540G>A) n.677G>A c.543G>A (p.Leu181=) c.768G>A (p.Leu256=) c.699G>A (p.Leu233=) | |
| 11 | g.66851200A>C | CA381493769 | PC | c.2063T>G (p.Leu688Arg) n.290-1135T>G c.*72T>G (n.*72T>G) c.*539T>G (n.*539T>G) n.676T>G c.542T>G (p.Leu181Arg) c.767T>G (p.Leu256Arg) c.698T>G (p.Leu233Arg) | |
| 11 | g.66851200A>G | CA381493770 | PC | c.2063T>C (p.Leu688Pro) n.290-1135T>C c.*72T>C (n.*72T>C) c.*539T>C (n.*539T>C) n.676T>C c.542T>C (p.Leu181Pro) c.767T>C (p.Leu256Pro) c.698T>C (p.Leu233Pro) | |
| 11 | g.66851200A>T | CA381493771 | PC | c.2063T>A (p.Leu688Gln) n.290-1135T>A c.*72T>A (n.*72T>A) c.*539T>A (n.*539T>A) n.676T>A c.542T>A (p.Leu181Gln) c.767T>A (p.Leu256Gln) c.698T>A (p.Leu233Gln) | |
| 11 | g.66851201G>A | CA475501026 | PC | c.2062C>T (p.Leu688=) n.290-1136C>T c.*71C>T (n.*71C>T) c.*538C>T (n.*538C>T) n.675C>T c.541C>T (p.Leu181=) c.766C>T (p.Leu256=) c.697C>T (p.Leu233=) | |
| 11 | g.66851201G>C | CA381493772 | PC | c.2062C>G (p.Leu688Val) n.290-1136C>G c.*71C>G (n.*71C>G) c.*538C>G (n.*538C>G) n.675C>G c.541C>G (p.Leu181Val) c.766C>G (p.Leu256Val) c.697C>G (p.Leu233Val) | |
| 11 | g.66851201G>T | CA381493773 | PC | c.2062C>A (p.Leu688Met) n.290-1136C>A c.*71C>A (n.*71C>A) c.*538C>A (n.*538C>A) n.675C>A c.541C>A (p.Leu181Met) c.766C>A (p.Leu256Met) c.697C>A (p.Leu233Met) | gnomAD v4 |
| 11 | g.66851202C>A | CA475501027 | PC | c.2061G>T (p.Leu687=) n.290-1137G>T c.*70G>T (n.*70G>T) c.*537G>T (n.*537G>T) n.674G>T c.540G>T (p.Leu180=) c.765G>T (p.Leu255=) c.696G>T (p.Leu232=) | gnomAD v4 |
| 11 | g.66851202C>G | CA475501028 | PC | c.2061G>C (p.Leu687=) n.290-1137G>C c.*70G>C (n.*70G>C) c.*537G>C (n.*537G>C) n.674G>C c.540G>C (p.Leu180=) c.765G>C (p.Leu255=) c.696G>C (p.Leu232=) | |
| 11 | g.66851202C>T | CA475501029 | PC | c.2061G>A (p.Leu687=) n.290-1137G>A c.*70G>A (n.*70G>A) c.*537G>A (n.*537G>A) n.674G>A c.540G>A (p.Leu180=) c.765G>A (p.Leu255=) c.696G>A (p.Leu232=) | gnomAD v4 |
| 11 | g.66851203A= | CA1979880795 | PC | c.2060T= (p.Leu687=) n.290-1138T= c.*69T= (n.*69T=) c.*536T= (n.*536T=) n.673T= c.539T= (p.Leu180=) c.764T= (p.Leu255=) c.695T= (p.Leu232=) | |
| 11 | g.66851203A>C | CA381493774 | PC | c.2060T>G (p.Leu687Arg) n.290-1138T>G c.*69T>G (n.*69T>G) c.*536T>G (n.*536T>G) n.673T>G c.539T>G (p.Leu180Arg) c.764T>G (p.Leu255Arg) c.695T>G (p.Leu232Arg) | |
| 11 | g.66851203A>G | CA381493775 | PC | c.2060T>C (p.Leu687Pro) n.290-1138T>C c.*69T>C (n.*69T>C) c.*536T>C (n.*536T>C) n.673T>C c.539T>C (p.Leu180Pro) c.764T>C (p.Leu255Pro) c.695T>C (p.Leu232Pro) | |
| 11 | g.66851203A>T | CA381493776 | PC | c.2060T>A (p.Leu687Gln) n.290-1138T>A c.*69T>A (n.*69T>A) c.*536T>A (n.*536T>A) n.673T>A c.539T>A (p.Leu180Gln) c.764T>A (p.Leu255Gln) c.695T>A (p.Leu232Gln) | dbSNP gnomAD v2 |
| 11 | g.66851204G>A | CA475501030 | PC | c.2059C>T (p.Leu687=) n.290-1139C>T c.*68C>T (n.*68C>T) c.*535C>T (n.*535C>T) n.672C>T c.538C>T (p.Leu180=) c.763C>T (p.Leu255=) c.694C>T (p.Leu232=) | gnomAD v4 |
| 11 | g.66851204G>C | CA381493777 | PC | c.2059C>G (p.Leu687Val) n.290-1139C>G c.*68C>G (n.*68C>G) c.*535C>G (n.*535C>G) n.672C>G c.538C>G (p.Leu180Val) c.763C>G (p.Leu255Val) c.694C>G (p.Leu232Val) | |
| 11 | g.66851204G>T | CA381493778 | PC | c.2059C>A (p.Leu687Met) n.290-1139C>A c.*68C>A (n.*68C>A) c.*535C>A (n.*535C>A) n.672C>A c.538C>A (p.Leu180Met) c.763C>A (p.Leu255Met) c.694C>A (p.Leu232Met) | gnomAD v4 |
| 11 | g.66851205C>A | CA381493779 | PC | c.2058G>T (p.Met686Ile) n.290-1140G>T c.*67G>T (n.*67G>T) c.*534G>T (n.*534G>T) n.671G>T c.537G>T (p.Met179Ile) c.762G>T (p.Met254Ile) c.693G>T (p.Met231Ile) | |
| 11 | g.66851205C= | CA1979880798 | PC | c.2058G= (p.Met686=) n.290-1140G= c.*67G= (n.*67G=) c.*534G= (n.*534G=) n.671G= c.537G= (p.Met179=) c.762G= (p.Met254=) c.693G= (p.Met231=) | |
| 11 | g.66851205C>G | CA381493780 | PC | c.2058G>C (p.Met686Ile) n.290-1140G>C c.*67G>C (n.*67G>C) c.*534G>C (n.*534G>C) n.671G>C c.537G>C (p.Met179Ile) c.762G>C (p.Met254Ile) c.693G>C (p.Met231Ile) | |
| 11 | g.66851205C>T | CA381493781 | PC | c.2058G>A (p.Met686Ile) n.290-1140G>A c.*67G>A (n.*67G>A) c.*534G>A (n.*534G>A) n.671G>A c.537G>A (p.Met179Ile) c.762G>A (p.Met254Ile) c.693G>A (p.Met231Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66851206A= | CA1979880800 | PC | c.2057T= (p.Met686=) n.290-1141T= c.*66T= (n.*66T=) c.*533T= (n.*533T=) n.670T= c.536T= (p.Met179=) c.761T= (p.Met254=) c.692T= (p.Met231=) | |
| 11 | g.66851206A>C | CA381493782 | PC | c.2057T>G (p.Met686Arg) n.290-1141T>G c.*66T>G (n.*66T>G) c.*533T>G (n.*533T>G) n.670T>G c.536T>G (p.Met179Arg) c.761T>G (p.Met254Arg) c.692T>G (p.Met231Arg) | |
| 11 | g.66851206A>G | CA381493784 | PC | c.2057T>C (p.Met686Thr) n.290-1141T>C c.*66T>C (n.*66T>C) c.*533T>C (n.*533T>C) n.670T>C c.536T>C (p.Met179Thr) c.761T>C (p.Met254Thr) c.692T>C (p.Met231Thr) | |
| 11 | g.66851206A>T | CA381493783 | PC | c.2057T>A (p.Met686Lys) n.290-1141T>A c.*66T>A (n.*66T>A) c.*533T>A (n.*533T>A) n.670T>A c.536T>A (p.Met179Lys) c.761T>A (p.Met254Lys) c.692T>A (p.Met231Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66851207T>A | CA381493785 | PC | c.2056A>T (p.Met686Leu) n.290-1142A>T c.*65A>T (n.*65A>T) c.*532A>T (n.*532A>T) n.669A>T c.535A>T (p.Met179Leu) c.760A>T (p.Met254Leu) c.691A>T (p.Met231Leu) | |
| 11 | g.66851207T>C | CA381493786 | PC | c.2056A>G (p.Met686Val) n.290-1142A>G c.*65A>G (n.*65A>G) c.*532A>G (n.*532A>G) n.669A>G c.535A>G (p.Met179Val) c.760A>G (p.Met254Val) c.691A>G (p.Met231Val) | gnomAD v4 |
| 11 | g.66851207T>G | CA381493787 | PC | c.2056A>C (p.Met686Leu) n.290-1142A>C c.*65A>C (n.*65A>C) c.*532A>C (n.*532A>C) n.669A>C c.535A>C (p.Met179Leu) c.760A>C (p.Met254Leu) c.691A>C (p.Met231Leu) | |
| 11 | g.66851208G>A | CA475501031 | PC | c.2055C>T (p.Asn685=) n.290-1143C>T c.*64C>T (n.*64C>T) c.*531C>T (n.*531C>T) n.668C>T c.534C>T (p.Asn178=) c.759C>T (p.Asn253=) c.690C>T (p.Asn230=) | |
| 11 | g.66851208G>C | CA381493788 | PC | c.2055C>G (p.Asn685Lys) n.290-1143C>G c.*64C>G (n.*64C>G) c.*531C>G (n.*531C>G) n.668C>G c.534C>G (p.Asn178Lys) c.759C>G (p.Asn253Lys) c.690C>G (p.Asn230Lys) | |
| 11 | g.66851208G>T | CA381493789 | PC | c.2055C>A (p.Asn685Lys) n.290-1143C>A c.*64C>A (n.*64C>A) c.*531C>A (n.*531C>A) n.668C>A c.534C>A (p.Asn178Lys) c.759C>A (p.Asn253Lys) c.690C>A (p.Asn230Lys) | gnomAD v4 |
| 11 | g.66851209T>A | CA381493790 | PC | c.2054A>T (p.Asn685Ile) n.290-1144A>T c.*63A>T (n.*63A>T) c.*530A>T (n.*530A>T) n.667A>T c.533A>T (p.Asn178Ile) c.758A>T (p.Asn253Ile) c.689A>T (p.Asn230Ile) | |
| 11 | g.66851209T>C | CA381493791 | PC | c.2054A>G (p.Asn685Ser) n.290-1144A>G c.*63A>G (n.*63A>G) c.*530A>G (n.*530A>G) n.667A>G c.533A>G (p.Asn178Ser) c.758A>G (p.Asn253Ser) c.689A>G (p.Asn230Ser) | |
| 11 | g.66851209T>G | CA381493792 | PC | c.2054A>C (p.Asn685Thr) n.290-1144A>C c.*63A>C (n.*63A>C) c.*530A>C (n.*530A>C) n.667A>C c.533A>C (p.Asn178Thr) c.758A>C (p.Asn253Thr) c.689A>C (p.Asn230Thr) | |
| 11 | g.66851210T>A | CA381493793 | PC | c.2053A>T (p.Asn685Tyr) n.290-1145A>T c.*62A>T (n.*62A>T) c.*529A>T (n.*529A>T) n.666A>T c.532A>T (p.Asn178Tyr) c.757A>T (p.Asn253Tyr) c.688A>T (p.Asn230Tyr) | |
| 11 | g.66851210T>C | CA381493794 | PC | c.2053A>G (p.Asn685Asp) n.290-1145A>G c.*62A>G (n.*62A>G) c.*529A>G (n.*529A>G) n.666A>G c.532A>G (p.Asn178Asp) c.757A>G (p.Asn253Asp) c.688A>G (p.Asn230Asp) | |
| 11 | g.66851210T>G | CA381493795 | PC | c.2053A>C (p.Asn685His) n.290-1145A>C c.*62A>C (n.*62A>C) c.*529A>C (n.*529A>C) n.666A>C c.532A>C (p.Asn178His) c.757A>C (p.Asn253His) c.688A>C (p.Asn230His) | |
| 11 | g.66851211G>A | CA475501032 | PC | c.2052C>T (p.Pro684=) n.290-1146C>T c.*61C>T (n.*61C>T) c.*528C>T (n.*528C>T) n.665C>T c.531C>T (p.Pro177=) c.756C>T (p.Pro252=) c.687C>T (p.Pro229=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66851211G>C | CA475501033 | PC | c.2052C>G (p.Pro684=) n.290-1146C>G c.*61C>G (n.*61C>G) c.*528C>G (n.*528C>G) n.665C>G c.531C>G (p.Pro177=) c.756C>G (p.Pro252=) c.687C>G (p.Pro229=) | |
| 11 | g.66851211G= | CA1979880803 | PC | c.2052C= (p.Pro684=) n.290-1146C= c.*61C= (n.*61C=) c.*528C= (n.*528C=) n.665C= c.531C= (p.Pro177=) c.756C= (p.Pro252=) c.687C= (p.Pro229=) | |
| 11 | g.66851211G>T | CA475501034 | PC | c.2052C>A (p.Pro684=) n.290-1146C>A c.*61C>A (n.*61C>A) c.*528C>A (n.*528C>A) n.665C>A c.531C>A (p.Pro177=) c.756C>A (p.Pro252=) c.687C>A (p.Pro229=) | gnomAD v4 |
| 11 | g.66851212G>A | CA381493797 | PC | c.2051C>T (p.Pro684Leu) n.290-1147C>T c.*60C>T (n.*60C>T) c.*527C>T (n.*527C>T) n.664C>T c.530C>T (p.Pro177Leu) c.755C>T (p.Pro252Leu) c.686C>T (p.Pro229Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66851212G>C | CA381493798 | PC | c.2051C>G (p.Pro684Arg) n.290-1147C>G c.*60C>G (n.*60C>G) c.*527C>G (n.*527C>G) n.664C>G c.530C>G (p.Pro177Arg) c.755C>G (p.Pro252Arg) c.686C>G (p.Pro229Arg) | |
| 11 | g.66851212G= | CA1979880806 | PC | c.2051C= (p.Pro684=) n.290-1147C= c.*60C= (n.*60C=) c.*527C= (n.*527C=) n.664C= c.530C= (p.Pro177=) c.755C= (p.Pro252=) c.686C= (p.Pro229=) | |
| 11 | g.66851212G>T | CA381493796 | PC | c.2051C>A (p.Pro684His) n.290-1147C>A c.*60C>A (n.*60C>A) c.*527C>A (n.*527C>A) n.664C>A c.530C>A (p.Pro177His) c.755C>A (p.Pro252His) c.686C>A (p.Pro229His) | |
| 11 | g.66851213G>A | CA381493799 | PC | c.2050C>T (p.Pro684Ser) n.290-1148C>T c.*59C>T (n.*59C>T) c.*526C>T (n.*526C>T) n.663C>T c.529C>T (p.Pro177Ser) c.754C>T (p.Pro252Ser) c.685C>T (p.Pro229Ser) | gnomAD v4 |
| 11 | g.66851213G>C | CA381493800 | PC | c.2050C>G (p.Pro684Ala) n.290-1148C>G c.*59C>G (n.*59C>G) c.*526C>G (n.*526C>G) n.663C>G c.529C>G (p.Pro177Ala) c.754C>G (p.Pro252Ala) c.685C>G (p.Pro229Ala) | |
| 11 | g.66851213G>T | CA381493801 | PC | c.2050C>A (p.Pro684Thr) n.290-1148C>A c.*59C>A (n.*59C>A) c.*526C>A (n.*526C>A) n.663C>A c.529C>A (p.Pro177Thr) c.754C>A (p.Pro252Thr) c.685C>A (p.Pro229Thr) | gnomAD v4 |
| 11 | g.66851214C>A | CA381493802 | PC | c.2049G>T (p.Leu683Phe) n.290-1149G>T c.*58G>T (n.*58G>T) c.*525G>T (n.*525G>T) n.662G>T c.528G>T (p.Leu176Phe) c.753G>T (p.Leu251Phe) c.684G>T (p.Leu228Phe) | |
| 11 | g.66851214C>G | CA381493803 | PC | c.2049G>C (p.Leu683Phe) n.290-1149G>C c.*58G>C (n.*58G>C) c.*525G>C (n.*525G>C) n.662G>C c.528G>C (p.Leu176Phe) c.753G>C (p.Leu251Phe) c.684G>C (p.Leu228Phe) | |
| 11 | g.66851214C>T | CA475501035 | PC | c.2049G>A (p.Leu683=) n.290-1149G>A c.*58G>A (n.*58G>A) c.*525G>A (n.*525G>A) n.662G>A c.528G>A (p.Leu176=) c.753G>A (p.Leu251=) c.684G>A (p.Leu228=) | |
| 11 | g.66851215A>C | CA381493804 | PC | c.2048T>G (p.Leu683Trp) n.290-1150T>G c.*57T>G (n.*57T>G) c.*524T>G (n.*524T>G) n.661T>G c.527T>G (p.Leu176Trp) c.752T>G (p.Leu251Trp) c.683T>G (p.Leu228Trp) | |
| 11 | g.66851215A>G | CA381493805 | PC | c.2048T>C (p.Leu683Ser) n.290-1150T>C c.*57T>C (n.*57T>C) c.*524T>C (n.*524T>C) n.661T>C c.527T>C (p.Leu176Ser) c.752T>C (p.Leu251Ser) c.683T>C (p.Leu228Ser) | |
| 11 | g.66851215A>T | CA381493806 | PC | c.2048T>A (p.Leu683Ter) n.290-1150T>A c.*57T>A (n.*57T>A) c.*524T>A (n.*524T>A) n.661T>A c.527T>A (p.Leu176Ter) c.752T>A (p.Leu251Ter) c.683T>A (p.Leu228Ter) | |
| 11 | g.66851216A>C | CA381493807 | PC | c.2047T>G (p.Leu683Val) n.290-1151T>G c.*56T>G (n.*56T>G) c.*523T>G (n.*523T>G) n.660T>G c.526T>G (p.Leu176Val) c.751T>G (p.Leu251Val) c.682T>G (p.Leu228Val) | |
| 11 | g.66851216A>G | CA475501036 | PC | c.2047T>C (p.Leu683=) n.290-1151T>C c.*56T>C (n.*56T>C) c.*523T>C (n.*523T>C) n.660T>C c.526T>C (p.Leu176=) c.751T>C (p.Leu251=) c.682T>C (p.Leu228=) | |
| 11 | g.66851216A>T | CA381493808 | PC | c.2047T>A (p.Leu683Met) n.290-1151T>A c.*56T>A (n.*56T>A) c.*523T>A (n.*523T>A) n.660T>A c.526T>A (p.Leu176Met) c.751T>A (p.Leu251Met) c.682T>A (p.Leu228Met) | |
| 11 | g.66851217G>A | CA475501037 | PC | c.2046C>T (p.Tyr682=) n.290-1152C>T c.*55C>T (n.*55C>T) c.*522C>T (n.*522C>T) n.659C>T c.525C>T (p.Tyr175=) c.750C>T (p.Tyr250=) c.681C>T (p.Tyr227=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66851217G>C | CA381493809 | PC | c.2046C>G (p.Tyr682Ter) n.290-1152C>G c.*55C>G (n.*55C>G) c.*522C>G (n.*522C>G) n.659C>G c.525C>G (p.Tyr175Ter) c.750C>G (p.Tyr250Ter) c.681C>G (p.Tyr227Ter) | |
| 11 | g.66851217G= | CA1979880809 | PC | c.2046C= (p.Tyr682=) n.290-1152C= c.*55C= (n.*55C=) c.*522C= (n.*522C=) n.659C= c.525C= (p.Tyr175=) c.750C= (p.Tyr250=) c.681C= (p.Tyr227=) | |
| 11 | g.66851217G>T | CA381493810 | PC | c.2046C>A (p.Tyr682Ter) n.290-1152C>A c.*55C>A (n.*55C>A) c.*522C>A (n.*522C>A) n.659C>A c.525C>A (p.Tyr175Ter) c.750C>A (p.Tyr250Ter) c.681C>A (p.Tyr227Ter) | |
| 11 | g.66851218T>A | CA381493812 | PC | c.2045A>T (p.Tyr682Phe) n.290-1153A>T c.*54A>T (n.*54A>T) c.*521A>T (n.*521A>T) n.658A>T c.524A>T (p.Tyr175Phe) c.749A>T (p.Tyr250Phe) c.680A>T (p.Tyr227Phe) | |
| 11 | g.66851218T>C | CA381493813 | PC | c.2045A>G (p.Tyr682Cys) n.290-1153A>G c.*54A>G (n.*54A>G) c.*521A>G (n.*521A>G) n.658A>G c.524A>G (p.Tyr175Cys) c.749A>G (p.Tyr250Cys) c.680A>G (p.Tyr227Cys) | |
| 11 | g.66851218T>G | CA381493811 | PC | c.2045A>C (p.Tyr682Ser) n.290-1153A>C c.*54A>C (n.*54A>C) c.*521A>C (n.*521A>C) n.658A>C c.524A>C (p.Tyr175Ser) c.749A>C (p.Tyr250Ser) c.680A>C (p.Tyr227Ser) | |
| 11 | g.66851219A>C | CA381493814 | PC | c.2044T>G (p.Tyr682Asp) n.290-1154T>G c.*53T>G (n.*53T>G) c.*520T>G (n.*520T>G) n.657T>G c.523T>G (p.Tyr175Asp) c.748T>G (p.Tyr250Asp) c.679T>G (p.Tyr227Asp) | |
| 11 | g.66851219A>G | CA381493815 | PC | c.2044T>C (p.Tyr682His) n.290-1154T>C c.*53T>C (n.*53T>C) c.*520T>C (n.*520T>C) n.657T>C c.523T>C (p.Tyr175His) c.748T>C (p.Tyr250His) c.679T>C (p.Tyr227His) | |
| 11 | g.66851219A>T | CA381493816 | PC | c.2044T>A (p.Tyr682Asn) n.290-1154T>A c.*53T>A (n.*53T>A) c.*520T>A (n.*520T>A) n.657T>A c.523T>A (p.Tyr175Asn) c.748T>A (p.Tyr250Asn) c.679T>A (p.Tyr227Asn) | |
| 11 | g.66851220G>A | CA475501038 | PC | c.2043C>T (p.Asn681=) n.290-1155C>T c.*52C>T (n.*52C>T) c.*519C>T (n.*519C>T) n.656C>T c.522C>T (p.Asn174=) c.747C>T (p.Asn249=) c.678C>T (p.Asn226=) | gnomAD v4 |
| 11 | g.66851220G>C | CA381493817 | PC | c.2043C>G (p.Asn681Lys) n.290-1155C>G c.*52C>G (n.*52C>G) c.*519C>G (n.*519C>G) n.656C>G c.522C>G (p.Asn174Lys) c.747C>G (p.Asn249Lys) c.678C>G (p.Asn226Lys) | |
| 11 | g.66851220G>T | CA381493818 | PC | c.2043C>A (p.Asn681Lys) n.290-1155C>A c.*52C>A (n.*52C>A) c.*519C>A (n.*519C>A) n.656C>A c.522C>A (p.Asn174Lys) c.747C>A (p.Asn249Lys) c.678C>A (p.Asn226Lys) | |
| 11 | g.66851221T>A | CA381493821 | PC | c.2042A>T (p.Asn681Ile) n.290-1156A>T c.*51A>T (n.*51A>T) c.*518A>T (n.*518A>T) n.655A>T c.521A>T (p.Asn174Ile) c.746A>T (p.Asn249Ile) c.677A>T (p.Asn226Ile) | |
| 11 | g.66851221T>C | CA381493820 | PC | c.2042A>G (p.Asn681Ser) n.290-1156A>G c.*51A>G (n.*51A>G) c.*518A>G (n.*518A>G) n.655A>G c.521A>G (p.Asn174Ser) c.746A>G (p.Asn249Ser) c.677A>G (p.Asn226Ser) | |
| 11 | g.66851221T>G | CA381493819 | PC | c.2042A>C (p.Asn681Thr) n.290-1156A>C c.*51A>C (n.*51A>C) c.*518A>C (n.*518A>C) n.655A>C c.521A>C (p.Asn174Thr) c.746A>C (p.Asn249Thr) c.677A>C (p.Asn226Thr) | |
| 11 | g.66851222dup | CA2614542771 | PC | c.2042dup (p.Asn681LysfsTer?) n.290-1156dup c.*51dup (n.*51dup) c.*518dup (n.*518dup) n.655dup c.521dup (p.Asn174LysfsTer?) c.746dup (p.Asn249LysfsTer?) c.677dup (p.Asn226LysfsTer?) | gnomAD v4 |
| 11 | g.66851222T>A | CA381493822 | PC | c.2041A>T (p.Asn681Tyr) n.290-1157A>T c.*50A>T (n.*50A>T) c.*517A>T (n.*517A>T) n.654A>T c.520A>T (p.Asn174Tyr) c.745A>T (p.Asn249Tyr) c.676A>T (p.Asn226Tyr) | |
| 11 | g.66851222T>C | CA381493823 | PC | c.2041A>G (p.Asn681Asp) n.290-1157A>G c.*50A>G (n.*50A>G) c.*517A>G (n.*517A>G) n.654A>G c.520A>G (p.Asn174Asp) c.745A>G (p.Asn249Asp) c.676A>G (p.Asn226Asp) | gnomAD v4 |
| 11 | g.66851222T>G | CA381493824 | PC | c.2041A>C (p.Asn681His) n.290-1157A>C c.*50A>C (n.*50A>C) c.*517A>C (n.*517A>C) n.654A>C c.520A>C (p.Asn174His) c.745A>C (p.Asn249His) c.676A>C (p.Asn226His) | gnomAD v4 |
| 11 | g.66851223G>A | CA475501039 | PC | c.2040C>T (p.Leu680=) n.290-1158C>T c.*49C>T (n.*49C>T) c.*516C>T (n.*516C>T) n.653C>T c.519C>T (p.Leu173=) c.744C>T (p.Leu248=) c.675C>T (p.Leu225=) | ClinVar dbSNP |
| 11 | g.66851223G>C | CA475501040 | PC | c.2040C>G (p.Leu680=) n.290-1158C>G c.*49C>G (n.*49C>G) c.*516C>G (n.*516C>G) n.653C>G c.519C>G (p.Leu173=) c.744C>G (p.Leu248=) c.675C>G (p.Leu225=) | |
| 11 | g.66851223G= | CA1979880813 | PC | c.2040C= (p.Leu680=) n.290-1158C= c.*49C= (n.*49C=) c.*516C= (n.*516C=) n.653C= c.519C= (p.Leu173=) c.744C= (p.Leu248=) c.675C= (p.Leu225=) | |
| 11 | g.66851223G>T | CA475501041 | PC | c.2040C>A (p.Leu680=) n.290-1158C>A c.*49C>A (n.*49C>A) c.*516C>A (n.*516C>A) n.653C>A c.519C>A (p.Leu173=) c.744C>A (p.Leu248=) c.675C>A (p.Leu225=) | gnomAD v4 |
| 11 | g.66851224A= | CA1979880816 | PC | c.2039T= (p.Leu680=) n.290-1159T= c.*48T= (n.*48T=) c.*515T= (n.*515T=) n.652T= c.518T= (p.Leu173=) c.743T= (p.Leu248=) c.674T= (p.Leu225=) | |
| 11 | g.66851224A>C | CA381493825 | PC | c.2039T>G (p.Leu680Arg) n.290-1159T>G c.*48T>G (n.*48T>G) c.*515T>G (n.*515T>G) n.652T>G c.518T>G (p.Leu173Arg) c.743T>G (p.Leu248Arg) c.674T>G (p.Leu225Arg) | |
| 11 | g.66851224A>G | CA6131182 | PC | c.2039T>C (p.Leu680Pro) n.290-1159T>C c.*48T>C (n.*48T>C) c.*515T>C (n.*515T>C) n.652T>C c.518T>C (p.Leu173Pro) c.743T>C (p.Leu248Pro) c.674T>C (p.Leu225Pro) | dbSNP ExAC |
| 11 | g.66851224A>T | CA381493826 | PC | c.2039T>A (p.Leu680His) n.290-1159T>A c.*48T>A (n.*48T>A) c.*515T>A (n.*515T>A) n.652T>A c.518T>A (p.Leu173His) c.743T>A (p.Leu248His) c.674T>A (p.Leu225His) | |
| 11 | g.66851224_66851225delinsAG | CA1979880817 | PC | c.2038_2039delinsCT (p.Leu680=) n.290-1160_290-1159delinsCT c.*47_*48delinsCT (n.*47_*48delinsCT) c.*514_*515delinsCT (n.*514_*515delinsCT) n.651_652delinsCT c.517_518delinsCT (p.Leu173=) c.742_743delinsCT (p.Leu248=) c.673_674delinsCT (p.Leu225=) | |
| 11 | g.66851225G>A | CA381493829 | PC | c.2038C>T (p.Leu680Phe) n.290-1160C>T c.*47C>T (n.*47C>T) c.*514C>T (n.*514C>T) n.651C>T c.517C>T (p.Leu173Phe) c.742C>T (p.Leu248Phe) c.673C>T (p.Leu225Phe) | gnomAD v4 |
| 11 | g.66851225G>C | CA381493828 | PC | c.2038C>G (p.Leu680Val) n.290-1160C>G c.*47C>G (n.*47C>G) c.*514C>G (n.*514C>G) n.651C>G c.517C>G (p.Leu173Val) c.742C>G (p.Leu248Val) c.673C>G (p.Leu225Val) | gnomAD v4 |
| 11 | g.66851225G>T | CA381493827 | PC | c.2038C>A (p.Leu680Ile) n.290-1160C>A c.*47C>A (n.*47C>A) c.*514C>A (n.*514C>A) n.651C>A c.517C>A (p.Leu173Ile) c.742C>A (p.Leu248Ile) c.673C>A (p.Leu225Ile) | gnomAD v4 |
| 11 | g.66851227del | CA1979880822 | PC | c.2038del (p.Leu680SerfsTer?) n.290-1160del c.*47del (n.*47del) c.*514del (n.*514del) n.651del c.517del (p.Leu173SerfsTer?) c.742del (p.Leu248SerfsTer?) c.673del (p.Leu225SerfsTer?) | dbSNP |
| 11 | g.66851226G>A | CA475501042 | PC | c.2037C>T (p.Ser679=) n.290-1161C>T c.*46C>T (n.*46C>T) c.*513C>T (n.*513C>T) n.650C>T c.516C>T (p.Ser172=) c.741C>T (p.Ser247=) c.672C>T (p.Ser224=) | gnomAD v4 |
| 11 | g.66851226G>C | CA475501043 | PC | c.2037C>G (p.Ser679=) n.290-1161C>G c.*46C>G (n.*46C>G) c.*513C>G (n.*513C>G) n.650C>G c.516C>G (p.Ser172=) c.741C>G (p.Ser247=) c.672C>G (p.Ser224=) | |
| 11 | g.66851226G>T | CA475501044 | PC | c.2037C>A (p.Ser679=) n.290-1161C>A c.*46C>A (n.*46C>A) c.*513C>A (n.*513C>A) n.650C>A c.516C>A (p.Ser172=) c.741C>A (p.Ser247=) c.672C>A (p.Ser224=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.66851227G>A | CA381493830 | PC | c.2036C>T (p.Ser679Phe) n.290-1162C>T c.*45C>T (n.*45C>T) c.*512C>T (n.*512C>T) n.649C>T c.515C>T (p.Ser172Phe) c.740C>T (p.Ser247Phe) c.671C>T (p.Ser224Phe) | |
| 11 | g.66851227G>C | CA381493831 | PC | c.2036C>G (p.Ser679Cys) n.290-1162C>G c.*45C>G (n.*45C>G) c.*512C>G (n.*512C>G) n.649C>G c.515C>G (p.Ser172Cys) c.740C>G (p.Ser247Cys) c.671C>G (p.Ser224Cys) | |
| 11 | g.66851227G>T | CA381493832 | PC | c.2036C>A (p.Ser679Tyr) n.290-1162C>A c.*45C>A (n.*45C>A) c.*512C>A (n.*512C>A) n.649C>A c.515C>A (p.Ser172Tyr) c.740C>A (p.Ser247Tyr) c.671C>A (p.Ser224Tyr) | |
| 11 | g.66851228A>C | CA381493833 | PC | c.2035T>G (p.Ser679Ala) n.290-1163T>G c.*44T>G (n.*44T>G) c.*511T>G (n.*511T>G) n.648T>G c.514T>G (p.Ser172Ala) c.739T>G (p.Ser247Ala) c.670T>G (p.Ser224Ala) | |
| 11 | g.66851228A>G | CA381493834 | PC | c.2035T>C (p.Ser679Pro) n.290-1163T>C c.*44T>C (n.*44T>C) c.*511T>C (n.*511T>C) n.648T>C c.514T>C (p.Ser172Pro) c.739T>C (p.Ser247Pro) c.670T>C (p.Ser224Pro) | |
| 11 | g.66851228A>T | CA381493835 | PC | c.2035T>A (p.Ser679Thr) n.290-1163T>A c.*44T>A (n.*44T>A) c.*511T>A (n.*511T>A) n.648T>A c.514T>A (p.Ser172Thr) c.739T>A (p.Ser247Thr) c.670T>A (p.Ser224Thr) | |
| 11 | g.66851229G>A | CA475501045 | PC | c.2034C>T (p.Asp678=) n.290-1164C>T c.*43C>T (n.*43C>T) c.*510C>T (n.*510C>T) n.647C>T c.513C>T (p.Asp171=) c.738C>T (p.Asp246=) c.669C>T (p.Asp223=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.66851229G>C | CA381493836 | PC | c.2034C>G (p.Asp678Glu) n.290-1164C>G c.*43C>G (n.*43C>G) c.*510C>G (n.*510C>G) n.647C>G c.513C>G (p.Asp171Glu) c.738C>G (p.Asp246Glu) c.669C>G (p.Asp223Glu) | |
| 11 | g.66851229G>T | CA381493837 | PC | c.2034C>A (p.Asp678Glu) n.290-1164C>A c.*43C>A (n.*43C>A) c.*510C>A (n.*510C>A) n.647C>A c.513C>A (p.Asp171Glu) c.738C>A (p.Asp246Glu) c.669C>A (p.Asp223Glu) | |
| 11 | g.66851230T>A | CA381493838 | PC | c.2033A>T (p.Asp678Val) n.290-1165A>T c.*42A>T (n.*42A>T) c.*509A>T (n.*509A>T) n.646A>T c.512A>T (p.Asp171Val) c.737A>T (p.Asp246Val) c.668A>T (p.Asp223Val) | |
| 11 | g.66851230T>C | CA381493840 | PC | c.2033A>G (p.Asp678Gly) n.290-1165A>G c.*42A>G (n.*42A>G) c.*509A>G (n.*509A>G) n.646A>G c.512A>G (p.Asp171Gly) c.737A>G (p.Asp246Gly) c.668A>G (p.Asp223Gly) | gnomAD v4 |
| 11 | g.66851230T>G | CA381493839 | PC | c.2033A>C (p.Asp678Ala) n.290-1165A>C c.*42A>C (n.*42A>C) c.*509A>C (n.*509A>C) n.646A>C c.512A>C (p.Asp171Ala) c.737A>C (p.Asp246Ala) c.668A>C (p.Asp223Ala) | |
| 11 | g.66851231C>A | CA381493841 | PC | c.2032G>T (p.Asp678Tyr) n.290-1166G>T c.*41G>T (n.*41G>T) c.*508G>T (n.*508G>T) n.645G>T c.511G>T (p.Asp171Tyr) c.736G>T (p.Asp246Tyr) c.667G>T (p.Asp223Tyr) | gnomAD v4 |
| 11 | g.66851231C>G | CA381493842 | PC | c.2032G>C (p.Asp678His) n.290-1166G>C c.*41G>C (n.*41G>C) c.*508G>C (n.*508G>C) n.645G>C c.511G>C (p.Asp171His) c.736G>C (p.Asp246His) c.667G>C (p.Asp223His) | |
| 11 | g.66851231C>T | CA381493843 | PC | c.2032G>A (p.Asp678Asn) n.290-1166G>A c.*41G>A (n.*41G>A) c.*508G>A (n.*508G>A) n.645G>A c.511G>A (p.Asp171Asn) c.736G>A (p.Asp246Asn) c.667G>A (p.Asp223Asn) | |
| 11 | g.66851232A>C | CA381493844 | PC | c.2031T>G (p.Phe677Leu) n.290-1167T>G c.*40T>G (n.*40T>G) c.*507T>G (n.*507T>G) n.644T>G c.510T>G (p.Phe170Leu) c.735T>G (p.Phe245Leu) c.666T>G (p.Phe222Leu) | |
| 11 | g.66851232A>G | CA475501046 | PC | c.2031T>C (p.Phe677=) n.290-1167T>C c.*40T>C (n.*40T>C) c.*507T>C (n.*507T>C) n.644T>C c.510T>C (p.Phe170=) c.735T>C (p.Phe245=) c.666T>C (p.Phe222=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.66851232A>T | CA381493845 | PC | c.2031T>A (p.Phe677Leu) n.290-1167T>A c.*40T>A (n.*40T>A) c.*507T>A (n.*507T>A) n.644T>A c.510T>A (p.Phe170Leu) c.735T>A (p.Phe245Leu) c.666T>A (p.Phe222Leu) | |
| 11 | g.66851233A>C | CA381493846 | PC | c.2030T>G (p.Phe677Cys) n.290-1168T>G c.*39T>G (n.*39T>G) c.*506T>G (n.*506T>G) n.643T>G c.509T>G (p.Phe170Cys) c.734T>G (p.Phe245Cys) c.665T>G (p.Phe222Cys) | |
| 11 | g.66851233A>G | CA381493848 | PC | c.2030T>C (p.Phe677Ser) n.290-1168T>C c.*39T>C (n.*39T>C) c.*506T>C (n.*506T>C) n.643T>C c.509T>C (p.Phe170Ser) c.734T>C (p.Phe245Ser) c.665T>C (p.Phe222Ser) | gnomAD v4 |
| 11 | g.66851233A>T | CA381493847 | PC | c.2030T>A (p.Phe677Tyr) n.290-1168T>A c.*39T>A (n.*39T>A) c.*506T>A (n.*506T>A) n.643T>A c.509T>A (p.Phe170Tyr) c.734T>A (p.Phe245Tyr) c.665T>A (p.Phe222Tyr) | |
| 11 | g.66851234A= | CA1979880825 | PC | c.2029T= (p.Phe677=) n.290-1169T= c.*38T= (n.*38T=) c.*505T= (n.*505T=) n.642T= c.508T= (p.Phe170=) c.733T= (p.Phe245=) c.664T= (p.Phe222=) | |
| 11 | g.66851234A>C | CA381493849 | PC | c.2029T>G (p.Phe677Val) n.290-1169T>G c.*38T>G (n.*38T>G) c.*505T>G (n.*505T>G) n.642T>G c.508T>G (p.Phe170Val) c.733T>G (p.Phe245Val) c.664T>G (p.Phe222Val) | |
| 11 | g.66851234A>G | CA381493850 | PC | c.2029T>C (p.Phe677Leu) n.290-1169T>C c.*38T>C (n.*38T>C) c.*505T>C (n.*505T>C) n.642T>C c.508T>C (p.Phe170Leu) c.733T>C (p.Phe245Leu) c.664T>C (p.Phe222Leu) | dbSNP |
| 11 | g.66851234A>T | CA381493851 | PC | c.2029T>A (p.Phe677Ile) n.290-1169T>A c.*38T>A (n.*38T>A) c.*505T>A (n.*505T>A) n.642T>A c.508T>A (p.Phe170Ile) c.733T>A (p.Phe245Ile) c.664T>A (p.Phe222Ile) | |
| 11 | g.66851235C>A | CA475501048 | PC | c.2028G>T (p.Val676=) n.290-1170G>T c.*37G>T (n.*37G>T) c.*504G>T (n.*504G>T) n.641G>T c.507G>T (p.Val169=) c.732G>T (p.Val244=) c.663G>T (p.Val221=) | gnomAD v4 |
| 11 | g.66851235C>G | CA475501049 | PC | c.2028G>C (p.Val676=) n.290-1170G>C c.*37G>C (n.*37G>C) c.*504G>C (n.*504G>C) n.641G>C c.507G>C (p.Val169=) c.732G>C (p.Val244=) c.663G>C (p.Val221=) | |
| 11 | g.66851235C>T | CA475501047 | PC | c.2028G>A (p.Val676=) n.290-1170G>A c.*37G>A (n.*37G>A) c.*504G>A (n.*504G>A) n.641G>A c.507G>A (p.Val169=) c.732G>A (p.Val244=) c.663G>A (p.Val221=) | |
| 11 | g.66851236A>C | CA381493852 | PC | c.2027T>G (p.Val676Gly) n.290-1171T>G c.*36T>G (n.*36T>G) c.*503T>G (n.*503T>G) n.640T>G c.506T>G (p.Val169Gly) c.731T>G (p.Val244Gly) c.662T>G (p.Val221Gly) | |
| 11 | g.66851236A>G | CA381493853 | PC | c.2027T>C (p.Val676Ala) n.290-1171T>C c.*36T>C (n.*36T>C) c.*503T>C (n.*503T>C) n.640T>C c.506T>C (p.Val169Ala) c.731T>C (p.Val244Ala) c.662T>C (p.Val221Ala) | |
| 11 | g.66851236A>T | CA381493854 | PC | c.2027T>A (p.Val676Glu) n.290-1171T>A c.*36T>A (n.*36T>A) c.*503T>A (n.*503T>A) n.640T>A c.506T>A (p.Val169Glu) c.731T>A (p.Val244Glu) c.662T>A (p.Val221Glu) | |
| 11 | g.66851237C>A | CA381493855 | PC | c.2026G>T (p.Val676Leu) n.290-1172G>T c.*35G>T (n.*35G>T) c.*502G>T (n.*502G>T) n.639G>T c.505G>T (p.Val169Leu) c.730G>T (p.Val244Leu) c.661G>T (p.Val221Leu) | |
| 11 | g.66851237C= | CA1979880826 | PC | c.2026G= (p.Val676=) n.290-1172G= c.*35G= (n.*35G=) c.*502G= (n.*502G=) n.639G= c.505G= (p.Val169=) c.730G= (p.Val244=) c.661G= (p.Val221=) | |
| 11 | g.66851237C>G | CA381493856 | PC | c.2026G>C (p.Val676Leu) n.290-1172G>C c.*35G>C (n.*35G>C) c.*502G>C (n.*502G>C) n.639G>C c.505G>C (p.Val169Leu) c.730G>C (p.Val244Leu) c.661G>C (p.Val221Leu) | gnomAD v4 |
| 11 | g.66851237C>T | CA224123113 | PC | c.2026G>A (p.Val676Met) n.290-1172G>A c.*35G>A (n.*35G>A) c.*502G>A (n.*502G>A) n.639G>A c.505G>A (p.Val169Met) c.730G>A (p.Val244Met) c.661G>A (p.Val221Met) | ClinVar dbSNP |
| 11 | g.66851238A>C | CA475501052 | PC | c.2025T>G (p.Arg675=) n.290-1173T>G c.*34T>G (n.*34T>G) c.*501T>G (n.*501T>G) n.638T>G c.504T>G (p.Arg168=) c.729T>G (p.Arg243=) c.660T>G (p.Arg220=) | gnomAD v4 |
| 11 | g.66851238A>G | CA475501050 | PC | c.2025T>C (p.Arg675=) n.290-1173T>C c.*34T>C (n.*34T>C) c.*501T>C (n.*501T>C) n.638T>C c.504T>C (p.Arg168=) c.729T>C (p.Arg243=) c.660T>C (p.Arg220=) | gnomAD v4 |
| 11 | g.66851238A>T | CA475501051 | PC | c.2025T>A (p.Arg675=) n.290-1173T>A c.*34T>A (n.*34T>A) c.*501T>A (n.*501T>A) n.638T>A c.504T>A (p.Arg168=) c.729T>A (p.Arg243=) c.660T>A (p.Arg220=) | |
| 11 | g.66851239C>A | CA381493857 | PC | c.2024G>T (p.Arg675Leu) n.290-1174G>T c.*33G>T (n.*33G>T) c.*500G>T (n.*500G>T) n.637G>T c.503G>T (p.Arg168Leu) c.728G>T (p.Arg243Leu) c.659G>T (p.Arg220Leu) | |
| 11 | g.66851239C= | CA1979880828 | PC | c.2024G= (p.Arg675=) n.290-1174G= c.*33G= (n.*33G=) c.*500G= (n.*500G=) n.637G= c.503G= (p.Arg168=) c.728G= (p.Arg243=) c.659G= (p.Arg220=) | |
| 11 | g.66851239C>G | CA381493858 | PC | c.2024G>C (p.Arg675Pro) n.290-1174G>C c.*33G>C (n.*33G>C) c.*500G>C (n.*500G>C) n.637G>C c.503G>C (p.Arg168Pro) c.728G>C (p.Arg243Pro) c.659G>C (p.Arg220Pro) | |
| 11 | g.66851239C>T | CA312899 | PC | c.2024G>A (p.Arg675His) n.290-1174G>A c.*33G>A (n.*33G>A) c.*500G>A (n.*500G>A) n.637G>A c.503G>A (p.Arg168His) c.728G>A (p.Arg243His) c.659G>A (p.Arg220His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66851240G>A | CA6131183 | PC | c.2023C>T (p.Arg675Cys) n.290-1175C>T c.*32C>T (n.*32C>T) c.*499C>T (n.*499C>T) n.636C>T c.502C>T (p.Arg168Cys) c.727C>T (p.Arg243Cys) c.658C>T (p.Arg220Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66851240G>C | CA381493860 | PC | c.2023C>G (p.Arg675Gly) n.290-1175C>G c.*32C>G (n.*32C>G) c.*499C>G (n.*499C>G) n.636C>G c.502C>G (p.Arg168Gly) c.727C>G (p.Arg243Gly) c.658C>G (p.Arg220Gly) | |
| 11 | g.66851240G= | CA1979880832 | PC | c.2023C= (p.Arg675=) n.290-1175C= c.*32C= (n.*32C=) c.*499C= (n.*499C=) n.636C= c.502C= (p.Arg168=) c.727C= (p.Arg243=) c.658C= (p.Arg220=) | |
| 11 | g.66851240G>T | CA381493859 | PC | c.2023C>A (p.Arg675Ser) n.290-1175C>A c.*32C>A (n.*32C>A) c.*499C>A (n.*499C>A) n.636C>A c.502C>A (p.Arg168Ser) c.727C>A (p.Arg243Ser) c.658C>A (p.Arg220Ser) | gnomAD v4 |
| 11 | g.66851241dup | CA2614542797 | PC | c.2023dup (p.Arg675ProfsTer4) n.290-1175dup c.*32dup (n.*32dup) c.*499dup (n.*499dup) n.636dup c.502dup (p.Arg168ProfsTer4) c.727dup (p.Arg243ProfsTer4) c.658dup (p.Arg220ProfsTer4) | gnomAD v4 |
| 11 | g.66851241G>A | CA475501053 | PC | c.2022C>T (p.Phe674=) n.290-1176C>T c.*31C>T (n.*31C>T) c.*498C>T (n.*498C>T) n.635C>T c.501C>T (p.Phe167=) c.726C>T (p.Phe242=) c.657C>T (p.Phe219=) | dbSNP gnomAD v2 |
| 11 | g.66851241G>C | CA381493861 | PC | c.2022C>G (p.Phe674Leu) n.290-1176C>G c.*31C>G (n.*31C>G) c.*498C>G (n.*498C>G) n.635C>G c.501C>G (p.Phe167Leu) c.726C>G (p.Phe242Leu) c.657C>G (p.Phe219Leu) | |
| 11 | g.66851241G= | CA1979880834 | PC | c.2022C= (p.Phe674=) n.290-1176C= c.*31C= (n.*31C=) c.*498C= (n.*498C=) n.635C= c.501C= (p.Phe167=) c.726C= (p.Phe242=) c.657C= (p.Phe219=) | |
| 11 | g.66851241G>T | CA381493862 | PC | c.2022C>A (p.Phe674Leu) n.290-1176C>A c.*31C>A (n.*31C>A) c.*498C>A (n.*498C>A) n.635C>A c.501C>A (p.Phe167Leu) c.726C>A (p.Phe242Leu) c.657C>A (p.Phe219Leu) | gnomAD v4 |
| 11 | g.66851242A>C | CA381493863 | PC | c.2021T>G (p.Phe674Cys) n.290-1177T>G c.*30T>G (n.*30T>G) c.*497T>G (n.*497T>G) n.634T>G c.500T>G (p.Phe167Cys) c.725T>G (p.Phe242Cys) c.656T>G (p.Phe219Cys) | |
| 11 | g.66851242A>G | CA381493864 | PC | c.2021T>C (p.Phe674Ser) n.290-1177T>C c.*30T>C (n.*30T>C) c.*497T>C (n.*497T>C) n.634T>C c.500T>C (p.Phe167Ser) c.725T>C (p.Phe242Ser) c.656T>C (p.Phe219Ser) | |
| 11 | g.66851242A>T | CA381493865 | PC | c.2021T>A (p.Phe674Tyr) n.290-1177T>A c.*30T>A (n.*30T>A) c.*497T>A (n.*497T>A) n.634T>A c.500T>A (p.Phe167Tyr) c.725T>A (p.Phe242Tyr) c.656T>A (p.Phe219Tyr) | |
| 11 | g.66851243A= | CA1979880836 | PC | c.2020T= (p.Phe674=) n.290-1178T= c.*29T= (n.*29T=) c.*496T= (n.*496T=) n.633T= c.499T= (p.Phe167=) c.724T= (p.Phe242=) c.655T= (p.Phe219=) | |
| 11 | g.66851243A>C | CA381493866 | PC | c.2020T>G (p.Phe674Val) n.290-1178T>G c.*29T>G (n.*29T>G) c.*496T>G (n.*496T>G) n.633T>G c.499T>G (p.Phe167Val) c.724T>G (p.Phe242Val) c.655T>G (p.Phe219Val) | |
| 11 | g.66851243A>G | CA381493867 | PC | c.2020T>C (p.Phe674Leu) n.290-1178T>C c.*29T>C (n.*29T>C) c.*496T>C (n.*496T>C) n.633T>C c.499T>C (p.Phe167Leu) c.724T>C (p.Phe242Leu) c.655T>C (p.Phe219Leu) | dbSNP |
| 11 | g.66851243A>T | CA381493868 | PC | c.2020T>A (p.Phe674Ile) n.290-1178T>A c.*29T>A (n.*29T>A) c.*496T>A (n.*496T>A) n.633T>A c.499T>A (p.Phe167Ile) c.724T>A (p.Phe242Ile) c.655T>A (p.Phe219Ile) | |
| 11 | g.66851244G>A | CA475501054 | PC | c.2019C>T (p.Val673=) n.290-1179C>T c.*28C>T (n.*28C>T) c.*495C>T (n.*495C>T) n.632C>T c.498C>T (p.Val166=) c.723C>T (p.Val241=) c.654C>T (p.Val218=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.66851244G>C | CA475501055 | PC | c.2019C>G (p.Val673=) n.290-1179C>G c.*28C>G (n.*28C>G) c.*495C>G (n.*495C>G) n.632C>G c.498C>G (p.Val166=) c.723C>G (p.Val241=) c.654C>G (p.Val218=) | |
| 11 | g.66851244G= | CA1979880841 | PC | c.2019C= (p.Val673=) n.290-1179C= c.*28C= (n.*28C=) c.*495C= (n.*495C=) n.632C= c.498C= (p.Val166=) c.723C= (p.Val241=) c.654C= (p.Val218=) | |
| 11 | g.66851244G>T | CA475501056 | PC | c.2019C>A (p.Val673=) n.290-1179C>A c.*28C>A (n.*28C>A) c.*495C>A (n.*495C>A) n.632C>A c.498C>A (p.Val166=) c.723C>A (p.Val241=) c.654C>A (p.Val218=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.66851245A>C | CA381493869 | PC | c.2018T>G (p.Val673Gly) n.290-1180T>G c.*27T>G (n.*27T>G) c.*494T>G (n.*494T>G) n.631T>G c.497T>G (p.Val166Gly) c.722T>G (p.Val241Gly) c.653T>G (p.Val218Gly) | |
| 11 | g.66851245A>G | CA381493870 | PC | c.2018T>C (p.Val673Ala) n.290-1180T>C c.*27T>C (n.*27T>C) c.*494T>C (n.*494T>C) n.631T>C c.497T>C (p.Val166Ala) c.722T>C (p.Val241Ala) c.653T>C (p.Val218Ala) | |
| 11 | g.66851245A>T | CA381493871 | PC | c.2018T>A (p.Val673Asp) n.290-1180T>A c.*27T>A (n.*27T>A) c.*494T>A (n.*494T>A) n.631T>A c.497T>A (p.Val166Asp) c.722T>A (p.Val241Asp) c.653T>A (p.Val218Asp) | |
| 11 | g.66851246C>A | CA381493872 | PC | c.2017G>T (p.Val673Phe) n.290-1181G>T c.*26G>T (n.*26G>T) c.*493G>T (n.*493G>T) n.630G>T c.496G>T (p.Val166Phe) c.721G>T (p.Val241Phe) c.652G>T (p.Val218Phe) | |
| 11 | g.66851246C>G | CA381493873 | PC | c.2017G>C (p.Val673Leu) n.290-1181G>C c.*26G>C (n.*26G>C) c.*493G>C (n.*493G>C) n.630G>C c.496G>C (p.Val166Leu) c.721G>C (p.Val241Leu) c.652G>C (p.Val218Leu) | |
| 11 | g.66851246C>T | CA381493874 | PC | c.2017G>A (p.Val673Ile) n.290-1181G>A c.*26G>A (n.*26G>A) c.*493G>A (n.*493G>A) n.630G>A c.496G>A (p.Val166Ile) c.721G>A (p.Val241Ile) c.652G>A (p.Val218Ile) | gnomAD v4 |
| 11 | g.66851247A>C | CA381493875 | PC | c.2016T>G (p.Asp672Glu) n.290-1182T>G c.*25T>G (n.*25T>G) c.*492T>G (n.*492T>G) n.629T>G c.495T>G (p.Asp165Glu) c.720T>G (p.Asp240Glu) c.651T>G (p.Asp217Glu) | |
| 11 | g.66851247A>G | CA475501057 | PC | c.2016T>C (p.Asp672=) n.290-1182T>C c.*25T>C (n.*25T>C) c.*492T>C (n.*492T>C) n.629T>C c.495T>C (p.Asp165=) c.720T>C (p.Asp240=) c.651T>C (p.Asp217=) | ClinVar |
| 11 | g.66851247A>T | CA381493876 | PC | c.2016T>A (p.Asp672Glu) n.290-1182T>A c.*25T>A (n.*25T>A) c.*492T>A (n.*492T>A) n.629T>A c.495T>A (p.Asp165Glu) c.720T>A (p.Asp240Glu) c.651T>A (p.Asp217Glu) | |
| 11 | g.66851248T>A | CA381493877 | PC | c.2015A>T (p.Asp672Val) n.290-1183A>T c.*24A>T (n.*24A>T) c.*491A>T (n.*491A>T) n.628A>T c.494A>T (p.Asp165Val) c.719A>T (p.Asp240Val) c.650A>T (p.Asp217Val) | |
| 11 | g.66851248T>C | CA381493878 | PC | c.2015A>G (p.Asp672Gly) n.290-1183A>G c.*24A>G (n.*24A>G) c.*491A>G (n.*491A>G) n.628A>G c.494A>G (p.Asp165Gly) c.719A>G (p.Asp240Gly) c.650A>G (p.Asp217Gly) | |
| 11 | g.66851248T>G | CA381493879 | PC | c.2015A>C (p.Asp672Ala) n.290-1183A>C c.*24A>C (n.*24A>C) c.*491A>C (n.*491A>C) n.628A>C c.494A>C (p.Asp165Ala) c.719A>C (p.Asp240Ala) c.650A>C (p.Asp217Ala) | |
| 11 | g.66851249C>A | CA381493880 | PC | c.2014G>T (p.Asp672Tyr) n.290-1184G>T c.*23G>T (n.*23G>T) c.*490G>T (n.*490G>T) n.627G>T c.493G>T (p.Asp165Tyr) c.718G>T (p.Asp240Tyr) c.649G>T (p.Asp217Tyr) | |
| 11 | g.66851249C>G | CA381493881 | PC | c.2014G>C (p.Asp672His) n.290-1184G>C c.*23G>C (n.*23G>C) c.*490G>C (n.*490G>C) n.627G>C c.493G>C (p.Asp165His) c.718G>C (p.Asp240His) c.649G>C (p.Asp217His) | |
| 11 | g.66851249C>T | CA381493882 | PC | c.2014G>A (p.Asp672Asn) n.290-1184G>A c.*23G>A (n.*23G>A) c.*490G>A (n.*490G>A) n.627G>A c.493G>A (p.Asp165Asn) c.718G>A (p.Asp240Asn) c.649G>A (p.Asp217Asn) |