Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.67490779C>A | CA2792512357 | AIP | c.1086C>A c.599-9C>A (n.599-9C>A) n.1621C>A c.469-218C>A (n.469-218C>A) c.419-9C>A (n.419-9C>A) c.788-9C>A (n.788-9C>A) c.780-9C>A (n.780-9C>A) c.611-9C>A (n.611-9C>A) c.788-20C>A (n.788-20C>A) c.608-9C>A (n.608-9C>A) | |
11 | g.67490779C= | CA1980172634 | AIP | c.1086C= c.599-9C= (n.599-9C=) n.1621C= c.469-218C= (n.469-218C=) c.419-9C= (n.419-9C=) c.788-9C= (n.788-9C=) c.780-9C= (n.780-9C=) c.611-9C= (n.611-9C=) c.788-20C= (n.788-20C=) c.608-9C= (n.608-9C=) | |
11 | g.67490779C>T | CA939069909 | AIP | c.1086C>T c.599-9C>T (n.599-9C>T) n.1621C>T c.469-218C>T (n.469-218C>T) c.419-9C>T (n.419-9C>T) c.788-9C>T (n.788-9C>T) c.780-9C>T (n.780-9C>T) c.611-9C>T (n.611-9C>T) c.788-20C>T (n.788-20C>T) c.608-9C>T (n.608-9C>T) | ClinVar dbSNP gnomAD v4 |
11 | g.67490780C>T | CA2740093083 | AIP | c.1087C>T c.599-8C>T (n.599-8C>T) n.1622C>T c.469-217C>T (n.469-217C>T) c.419-8C>T (n.419-8C>T) c.788-8C>T (n.788-8C>T) c.780-8C>T (n.780-8C>T) c.611-8C>T (n.611-8C>T) c.788-19C>T (n.788-19C>T) c.608-8C>T (n.608-8C>T) | ClinVar |
11 | g.67490782C>T | CA2499221231 | AIP | c.1089C>T c.599-6C>T (n.599-6C>T) n.1624C>T c.469-215C>T (n.469-215C>T) c.419-6C>T (n.419-6C>T) c.788-6C>T (n.788-6C>T) c.780-6C>T (n.780-6C>T) c.611-6C>T (n.611-6C>T) c.788-17C>T (n.788-17C>T) c.608-6C>T (n.608-6C>T) | ClinVar dbSNP gnomAD v4 |
11 | g.67490783T>C | CA2580084773 | AIP | c.1090T>C c.599-5T>C (n.599-5T>C) n.1625T>C c.469-214T>C (n.469-214T>C) c.419-5T>C (n.419-5T>C) c.788-5T>C (n.788-5T>C) c.780-5T>C (n.780-5T>C) c.611-5T>C (n.611-5T>C) c.788-16T>C (n.788-16T>C) c.608-5T>C (n.608-5T>C) | ClinVar gnomAD v4 |
11 | g.67490784G>C | CA1980172636 | AIP | c.1091G>C c.599-4G>C (n.599-4G>C) n.1626G>C c.469-213G>C (n.469-213G>C) c.419-4G>C (n.419-4G>C) c.788-4G>C (n.788-4G>C) c.780-4G>C (n.780-4G>C) c.611-4G>C (n.611-4G>C) c.788-15G>C (n.788-15G>C) c.608-4G>C (n.608-4G>C) | dbSNP |
11 | g.67490784G= | CA1980172635 | AIP | c.1091G= c.599-4G= (n.599-4G=) n.1626G= c.469-213G= (n.469-213G=) c.419-4G= (n.419-4G=) c.788-4G= (n.788-4G=) c.780-4G= (n.780-4G=) c.611-4G= (n.611-4G=) c.788-15G= (n.788-15G=) c.608-4G= (n.608-4G=) | |
11 | g.67490784G>T | CA2573147619 | AIP | c.1091G>T c.599-4G>T (n.599-4G>T) n.1626G>T c.469-213G>T (n.469-213G>T) c.419-4G>T (n.419-4G>T) c.788-4G>T (n.788-4G>T) c.780-4G>T (n.780-4G>T) c.611-4G>T (n.611-4G>T) c.788-15G>T (n.788-15G>T) c.608-4G>T (n.608-4G>T) | ClinVar dbSNP |
11 | g.67490786A>C | CA381554191 | AIP | c.1093A>C c.599-2A>C (n.599-2A>C) n.1628A>C c.469-211A>C (n.469-211A>C) c.419-2A>C (n.419-2A>C) c.788-2A>C (n.788-2A>C) c.780-2A>C (n.780-2A>C) c.611-2A>C (n.611-2A>C) c.788-13A>C (n.788-13A>C) c.608-2A>C (n.608-2A>C) | |
11 | g.67490786A>G | CA381554198 | AIP | c.1093A>G c.599-2A>G (n.599-2A>G) n.1628A>G c.469-211A>G (n.469-211A>G) c.419-2A>G (n.419-2A>G) c.788-2A>G (n.788-2A>G) c.780-2A>G (n.780-2A>G) c.611-2A>G (n.611-2A>G) c.788-13A>G (n.788-13A>G) c.608-2A>G (n.608-2A>G) | |
11 | g.67490786A>T | CA381554202 | AIP | c.1093A>T c.599-2A>T (n.599-2A>T) n.1628A>T c.469-211A>T (n.469-211A>T) c.419-2A>T (n.419-2A>T) c.788-2A>T (n.788-2A>T) c.780-2A>T (n.780-2A>T) c.611-2A>T (n.611-2A>T) c.788-13A>T (n.788-13A>T) c.608-2A>T (n.608-2A>T) | |
11 | g.67490787G>A | CA381554211 | AIP | c.1094G>A c.599-1G>A (n.599-1G>A) n.1629G>A c.469-210G>A (n.469-210G>A) c.419-1G>A (n.419-1G>A) c.788-1G>A (n.788-1G>A) c.780-1G>A (n.780-1G>A) c.611-1G>A (n.611-1G>A) c.788-12G>A (n.788-12G>A) c.608-1G>A (n.608-1G>A) | |
11 | g.67490787G>C | CA381554213 | AIP | c.1094G>C c.599-1G>C (n.599-1G>C) n.1629G>C c.469-210G>C (n.469-210G>C) c.419-1G>C (n.419-1G>C) c.788-1G>C (n.788-1G>C) c.780-1G>C (n.780-1G>C) c.611-1G>C (n.611-1G>C) c.788-12G>C (n.788-12G>C) c.608-1G>C (n.608-1G>C) | |
11 | g.67490787G>T | CA381554215 | AIP | c.1094G>T c.599-1G>T (n.599-1G>T) n.1629G>T c.469-210G>T (n.469-210G>T) c.419-1G>T (n.419-1G>T) c.788-1G>T (n.788-1G>T) c.780-1G>T (n.780-1G>T) c.611-1G>T (n.611-1G>T) c.788-12G>T (n.788-12G>T) c.608-1G>T (n.608-1G>T) | |
11 | g.67490787_67490790delinsGACA | CA1980172637 | AIP | c.1094_1097delinsGACA c.599-1_601delinsGACA n.1629_1632delinsGACA c.469-210_469-207delinsGACA (n.469-210_469-207delinsGACA) c.419-1_421delinsGACA c.788-1_790delinsGACA c.780-1_782delinsGACA c.611-1_613delinsGACA c.788-12_788-9delinsGACA (n.788-12_788-9delinsGACA) c.608-1_610delinsGACA | |
11 | g.67490788A>C | CA381554243 | AIP | c.1095A>C c.599A>C (p.Asp200Ala) n.1630A>C c.469-209A>C (n.469-209A>C) c.419A>C (p.Asp140Ala) c.788A>C (p.Asp263Ala) c.780A>C (p.Lys260Asn) c.611A>C (p.Asp204Ala) c.788-11A>C (n.788-11A>C) c.608A>C (p.Asp203Ala) | |
11 | g.67490788A>G | CA381554231 | AIP | c.1095A>G c.599A>G (p.Asp200Gly) n.1630A>G c.469-209A>G (n.469-209A>G) c.419A>G (p.Asp140Gly) c.788A>G (p.Asp263Gly) c.780A>G (p.Lys260=) c.611A>G (p.Asp204Gly) c.788-11A>G (n.788-11A>G) c.608A>G (p.Asp203Gly) | |
11 | g.67490788A>T | CA381554227 | AIP | c.1095A>T c.599A>T (p.Asp200Val) n.1630A>T c.469-209A>T (n.469-209A>T) c.419A>T (p.Asp140Val) c.788A>T (p.Asp263Val) c.780A>T (p.Lys260Asn) c.611A>T (p.Asp204Val) c.788-11A>T (n.788-11A>T) c.608A>T (p.Asp203Val) | |
11 | g.67490790_67490792del | CA6140980 | AIP | c.1097_1099del c.601_603del (p.Asn201del) n.1632_1634del c.469-207_469-205del (n.469-207_469-205del) c.421_423del (p.Asn141del) c.790_792del (p.Asn264del) c.782_784del (p.Gln261del) c.613_615del (p.Asn205del) c.788-9_788-7del (n.788-9_788-7del) c.610_612del (p.Asn204del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490789C>A | CA381554260 | AIP | c.1096C>A c.600C>A (p.Asp200Glu) n.1631C>A c.469-208C>A (n.469-208C>A) c.420C>A (p.Asp140Glu) c.789C>A (p.Asp263Glu) c.781C>A (p.Gln261Lys) c.612C>A (p.Asp204Glu) c.788-10C>A (n.788-10C>A) c.609C>A (p.Asp203Glu) | |
11 | g.67490789C>G | CA381554269 | AIP | c.1096C>G c.600C>G (p.Asp200Glu) n.1631C>G c.469-208C>G (n.469-208C>G) c.420C>G (p.Asp140Glu) c.789C>G (p.Asp263Glu) c.781C>G (p.Gln261Glu) c.612C>G (p.Asp204Glu) c.788-10C>G (n.788-10C>G) c.609C>G (p.Asp203Glu) | |
11 | g.67490789C>T | CA475509152 | AIP | c.1096C>T c.600C>T (p.Asp200=) n.1631C>T c.469-208C>T (n.469-208C>T) c.420C>T (p.Asp140=) c.789C>T (p.Asp263=) c.781C>T (p.Gln261Ter) c.612C>T (p.Asp204=) c.788-10C>T (n.788-10C>T) c.609C>T (p.Asp203=) | gnomAD v4 |
11 | g.67490790A>C | CA381554277 | AIP | c.1097A>C c.601A>C (p.Asn201His) n.1632A>C c.469-207A>C (n.469-207A>C) c.421A>C (p.Asn141His) c.790A>C (p.Asn264His) c.782A>C (p.Gln261Pro) c.613A>C (p.Asn205His) c.788-9A>C (n.788-9A>C) c.610A>C (p.Asn204His) | |
11 | g.67490790A>G | CA381554279 | AIP | c.1097A>G c.601A>G (p.Asn201Asp) n.1632A>G c.469-207A>G (n.469-207A>G) c.421A>G (p.Asn141Asp) c.790A>G (p.Asn264Asp) c.782A>G (p.Gln261Arg) c.613A>G (p.Asn205Asp) c.788-9A>G (n.788-9A>G) c.610A>G (p.Asn204Asp) | ClinVar dbSNP |
11 | g.67490790A>T | CA381554282 | AIP | c.1097A>T c.601A>T (p.Asn201Tyr) n.1632A>T c.469-207A>T (n.469-207A>T) c.421A>T (p.Asn141Tyr) c.790A>T (p.Asn264Tyr) c.782A>T (p.Gln261Leu) c.613A>T (p.Asn205Tyr) c.788-9A>T (n.788-9A>T) c.610A>T (p.Asn204Tyr) | |
11 | g.67490791A>C | CA381554284 | AIP | c.1098A>C c.602A>C (p.Asn201Thr) n.1633A>C c.469-206A>C (n.469-206A>C) c.422A>C (p.Asn141Thr) c.791A>C (p.Asn264Thr) c.783A>C (p.Gln261His) c.614A>C (p.Asn205Thr) c.788-8A>C (n.788-8A>C) c.611A>C (p.Asn204Thr) | ClinVar |
11 | g.67490791A>G | CA381554285 | AIP | c.1098A>G c.602A>G (p.Asn201Ser) n.1633A>G c.469-206A>G (n.469-206A>G) c.422A>G (p.Asn141Ser) c.791A>G (p.Asn264Ser) c.783A>G (p.Gln261=) c.614A>G (p.Asn205Ser) c.788-8A>G (n.788-8A>G) c.611A>G (p.Asn204Ser) | |
11 | g.67490791A>T | CA381554286 | AIP | c.1098A>T c.602A>T (p.Asn201Ile) n.1633A>T c.469-206A>T (n.469-206A>T) c.422A>T (p.Asn141Ile) c.791A>T (p.Asn264Ile) c.783A>T (p.Gln261His) c.614A>T (p.Asn205Ile) c.788-8A>T (n.788-8A>T) c.611A>T (p.Asn204Ile) | |
11 | g.67490792C>A | CA381554288 | AIP | c.1099C>A c.603C>A (p.Asn201Lys) n.1634C>A c.469-205C>A (n.469-205C>A) c.423C>A (p.Asn141Lys) c.792C>A (p.Asn264Lys) c.784C>A (p.Arg262Ser) c.615C>A (p.Asn205Lys) c.788-7C>A (n.788-7C>A) c.612C>A (p.Asn204Lys) | |
11 | g.67490792C= | CA1980172638 | AIP | c.1099C= c.603C= (p.Asn201=) n.1634C= c.469-205C= (n.469-205C=) c.423C= (p.Asn141=) c.792C= (p.Asn264=) c.784C= (p.Arg262=) c.615C= (p.Asn205=) c.788-7C= (n.788-7C=) c.612C= (p.Asn204=) | |
11 | g.67490792C>G | CA381554291 | AIP | c.1099C>G c.603C>G (p.Asn201Lys) n.1634C>G c.469-205C>G (n.469-205C>G) c.423C>G (p.Asn141Lys) c.792C>G (p.Asn264Lys) c.784C>G (p.Arg262Gly) c.615C>G (p.Asn205Lys) c.788-7C>G (n.788-7C>G) c.612C>G (p.Asn204Lys) | |
11 | g.67490792C>T | CA6140981 | AIP | c.1099C>T c.603C>T (p.Asn201=) n.1634C>T c.469-205C>T (n.469-205C>T) c.423C>T (p.Asn141=) c.792C>T (p.Asn264=) c.784C>T (p.Arg262Cys) c.615C>T (p.Asn205=) c.788-7C>T (n.788-7C>T) c.612C>T (p.Asn204=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490793G>A | CA6140982 | AIP | c.1100G>A c.604G>A (p.Val202Ile) n.1635G>A c.469-204G>A (n.469-204G>A) c.424G>A (p.Val142Ile) c.793G>A (p.Val265Ile) c.785G>A (p.Arg262His) c.616G>A (p.Val206Ile) c.788-6G>A (n.788-6G>A) c.613G>A (p.Val205Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490793G>C | CA381554307 | AIP | c.1100G>C c.604G>C (p.Val202Leu) n.1635G>C c.469-204G>C (n.469-204G>C) c.424G>C (p.Val142Leu) c.793G>C (p.Val265Leu) c.785G>C (p.Arg262Pro) c.616G>C (p.Val206Leu) c.788-6G>C (n.788-6G>C) c.613G>C (p.Val205Leu) | |
11 | g.67490793G= | CA1980172639 | AIP | c.1100G= c.604G= (p.Val202=) n.1635G= c.469-204G= (n.469-204G=) c.424G= (p.Val142=) c.793G= (p.Val265=) c.785G= (p.Arg262=) c.616G= (p.Val206=) c.788-6G= (n.788-6G=) c.613G= (p.Val205=) | |
11 | g.67490793G>T | CA381554296 | AIP | c.1100G>T c.604G>T (p.Val202Phe) n.1635G>T c.469-204G>T (n.469-204G>T) c.424G>T (p.Val142Phe) c.793G>T (p.Val265Phe) c.785G>T (p.Arg262Leu) c.616G>T (p.Val206Phe) c.788-6G>T (n.788-6G>T) c.613G>T (p.Val205Phe) | |
11 | g.67490794T>A | CA381554315 | AIP | c.1101T>A c.605T>A (p.Val202Asp) n.1636T>A c.469-203T>A (n.469-203T>A) c.425T>A (p.Val142Asp) c.794T>A (p.Val265Asp) c.786T>A (p.Arg262=) c.617T>A (p.Val206Asp) c.788-5T>A (n.788-5T>A) c.614T>A (p.Val205Asp) | |
11 | g.67490794T>C | CA381554318 | AIP | c.1101T>C c.605T>C (p.Val202Ala) n.1636T>C c.469-203T>C (n.469-203T>C) c.425T>C (p.Val142Ala) c.794T>C (p.Val265Ala) c.786T>C (p.Arg262=) c.617T>C (p.Val206Ala) c.788-5T>C (n.788-5T>C) c.614T>C (p.Val205Ala) | |
11 | g.67490794T>G | CA381554319 | AIP | c.1101T>G c.605T>G (p.Val202Gly) n.1636T>G c.469-203T>G (n.469-203T>G) c.425T>G (p.Val142Gly) c.794T>G (p.Val265Gly) c.786T>G (p.Arg262=) c.617T>G (p.Val206Gly) c.788-5T>G (n.788-5T>G) c.614T>G (p.Val205Gly) | |
11 | g.67490795C>A | CA475509406 | AIP | c.1102C>A c.606C>A (p.Val202=) n.1637C>A c.469-202C>A (n.469-202C>A) c.426C>A (p.Val142=) c.795C>A (p.Val265=) c.787C>A (p.Gln263Lys) c.618C>A (p.Val206=) c.788-4C>A (n.788-4C>A) c.615C>A (p.Val205=) | |
11 | g.67490795C>G | CA475509405 | AIP | c.1102C>G c.606C>G (p.Val202=) n.1637C>G c.469-202C>G (n.469-202C>G) c.426C>G (p.Val142=) c.795C>G (p.Val265=) c.787C>G (p.Gln263Glu) c.618C>G (p.Val206=) c.788-4C>G (n.788-4C>G) c.615C>G (p.Val205=) | ClinVar gnomAD v4 |
11 | g.67490795C>T | CA475509404 | AIP | c.1102C>T c.606C>T (p.Val202=) n.1637C>T c.469-202C>T (n.469-202C>T) c.426C>T (p.Val142=) c.795C>T (p.Val265=) c.787C>T (p.Gln263Ter) c.618C>T (p.Val206=) c.788-4C>T (n.788-4C>T) c.615C>T (p.Val205=) | |
11 | g.67490796A>C | CA381554325 | AIP | c.1103A>C c.607A>C (p.Lys203Gln) n.1638A>C c.469-201A>C (n.469-201A>C) c.427A>C (p.Lys143Gln) c.796A>C (p.Lys266Gln) c.788A>C (p.Gln263Pro) c.619A>C (p.Lys207Gln) c.788-3A>C (n.788-3A>C) c.616A>C (p.Lys206Gln) | |
11 | g.67490796A>G | CA381554328 | AIP | c.1103A>G c.607A>G (p.Lys203Glu) n.1638A>G c.469-201A>G (n.469-201A>G) c.427A>G (p.Lys143Glu) c.796A>G (p.Lys266Glu) c.788A>G (p.Gln263Arg) c.619A>G (p.Lys207Glu) c.788-3A>G (n.788-3A>G) c.616A>G (p.Lys206Glu) | |
11 | g.67490796A>T | CA381554329 | AIP | c.1103A>T c.607A>T (p.Lys203Ter) n.1638A>T c.469-201A>T (n.469-201A>T) c.427A>T (p.Lys143Ter) c.796A>T (p.Lys266Ter) c.788A>T (p.Gln263Leu) c.619A>T (p.Lys207Ter) c.788-3A>T (n.788-3A>T) c.616A>T (p.Lys206Ter) | |
11 | g.67490797A>C | CA381554334 | AIP | c.1104A>C c.608A>C (p.Lys203Thr) n.1639A>C c.469-200A>C (n.469-200A>C) c.428A>C (p.Lys143Thr) c.797A>C (p.Lys266Thr) c.789A>C (p.Gln263His) c.620A>C (p.Lys207Thr) c.788-2A>C (n.788-2A>C) c.617A>C (p.Lys206Thr) | |
11 | g.67490797A>G | CA381554330 | AIP | c.1104A>G c.608A>G (p.Lys203Arg) n.1639A>G c.469-200A>G (n.469-200A>G) c.428A>G (p.Lys143Arg) c.797A>G (p.Lys266Arg) c.789A>G (p.Gln263=) c.620A>G (p.Lys207Arg) c.788-2A>G (n.788-2A>G) c.617A>G (p.Lys206Arg) | |
11 | g.67490797A>T | CA381554331 | AIP | c.1104A>T c.608A>T (p.Lys203Met) n.1639A>T c.469-200A>T (n.469-200A>T) c.428A>T (p.Lys143Met) c.797A>T (p.Lys266Met) c.789A>T (p.Gln263His) c.620A>T (p.Lys207Met) c.788-2A>T (n.788-2A>T) c.617A>T (p.Lys206Met) | |
11 | g.67490798G>A | CA475509411 | AIP | c.1105G>A c.609G>A (p.Lys203=) n.1640G>A c.469-199G>A (n.469-199G>A) c.429G>A (p.Lys143=) c.798G>A (p.Lys266=) c.790G>A (p.Gly264Ser) c.621G>A (p.Lys207=) c.788-1G>A (n.788-1G>A) c.618G>A (p.Lys206=) | |
11 | g.67490798G>C | CA381554337 | AIP | c.1105G>C c.609G>C (p.Lys203Asn) n.1640G>C c.469-199G>C (n.469-199G>C) c.429G>C (p.Lys143Asn) c.798G>C (p.Lys266Asn) c.790G>C (p.Gly264Arg) c.621G>C (p.Lys207Asn) c.788-1G>C (n.788-1G>C) c.618G>C (p.Lys206Asn) | |
11 | g.67490798G>T | CA381554339 | AIP | c.1105G>T c.609G>T (p.Lys203Asn) n.1640G>T c.469-199G>T (n.469-199G>T) c.429G>T (p.Lys143Asn) c.798G>T (p.Lys266Asn) c.790G>T (p.Gly264Cys) c.621G>T (p.Lys207Asn) c.788-1G>T (n.788-1G>T) c.618G>T (p.Lys206Asn) | gnomAD v4 |
11 | g.67490799G>A | CA381554341 | AIP | c.1106G>A c.610G>A (p.Ala204Thr) n.1641G>A c.469-198G>A (n.469-198G>A) c.430G>A (p.Ala144Thr) c.799G>A (p.Ala267Thr) c.791G>A (p.Gly264Asp) c.622G>A (p.Ala208Thr) c.788G>A (p.Gly263Asp) c.619G>A (p.Ala207Thr) | ClinVar dbSNP |
11 | g.67490799G>C | CA381554344 | AIP | c.1106G>C c.610G>C (p.Ala204Pro) n.1641G>C c.469-198G>C (n.469-198G>C) c.430G>C (p.Ala144Pro) c.799G>C (p.Ala267Pro) c.791G>C (p.Gly264Ala) c.622G>C (p.Ala208Pro) c.788G>C (p.Gly263Ala) c.619G>C (p.Ala207Pro) | |
11 | g.67490799G>T | CA381554349 | AIP | c.1106G>T c.610G>T (p.Ala204Ser) n.1641G>T c.469-198G>T (n.469-198G>T) c.430G>T (p.Ala144Ser) c.799G>T (p.Ala267Ser) c.791G>T (p.Gly264Val) c.622G>T (p.Ala208Ser) c.788G>T (p.Gly263Val) c.619G>T (p.Ala207Ser) | |
11 | g.67490800C>A | CA381554355 | AIP | c.1107C>A c.611C>A (p.Ala204Asp) n.1642C>A c.469-197C>A (n.469-197C>A) c.431C>A (p.Ala144Asp) c.800C>A (p.Ala267Asp) c.792C>A (p.Gly264=) c.623C>A (p.Ala208Asp) c.789C>A (p.Gly263=) c.620C>A (p.Ala207Asp) | |
11 | g.67490800C>G | CA381554359 | AIP | c.1107C>G c.611C>G (p.Ala204Gly) n.1642C>G c.469-197C>G (n.469-197C>G) c.431C>G (p.Ala144Gly) c.800C>G (p.Ala267Gly) c.792C>G (p.Gly264=) c.623C>G (p.Ala208Gly) c.789C>G (p.Gly263=) c.620C>G (p.Ala207Gly) | |
11 | g.67490800C>T | CA381554358 | AIP | c.1107C>T c.611C>T (p.Ala204Val) n.1642C>T c.469-197C>T (n.469-197C>T) c.431C>T (p.Ala144Val) c.800C>T (p.Ala267Val) c.792C>T (p.Gly264=) c.623C>T (p.Ala208Val) c.789C>T (p.Gly263=) c.620C>T (p.Ala207Val) | |
11 | g.67490801C>A | CA475509413 | AIP | c.1108C>A c.612C>A (p.Ala204=) n.1643C>A c.469-196C>A (n.469-196C>A) c.432C>A (p.Ala144=) c.801C>A (p.Ala267=) c.793C>A (p.Leu265Ile) c.624C>A (p.Ala208=) c.790C>A (p.Leu264Ile) c.621C>A (p.Ala207=) | |
11 | g.67490801C= | CA1980172640 | AIP | c.1108C= c.612C= (p.Ala204=) n.1643C= c.469-196C= (n.469-196C=) c.432C= (p.Ala144=) c.801C= (p.Ala267=) c.793C= (p.Leu265=) c.624C= (p.Ala208=) c.790C= (p.Leu264=) c.621C= (p.Ala207=) | |
11 | g.67490801C>G | CA475509414 | AIP | c.1108C>G c.612C>G (p.Ala204=) n.1643C>G c.469-196C>G (n.469-196C>G) c.432C>G (p.Ala144=) c.801C>G (p.Ala267=) c.793C>G (p.Leu265Val) c.624C>G (p.Ala208=) c.790C>G (p.Leu264Val) c.621C>G (p.Ala207=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.67490801C>T | CA475509415 | AIP | c.1108C>T c.612C>T (p.Ala204=) n.1643C>T c.469-196C>T (n.469-196C>T) c.432C>T (p.Ala144=) c.801C>T (p.Ala267=) c.793C>T (p.Leu265=) c.624C>T (p.Ala208=) c.790C>T (p.Leu264=) c.621C>T (p.Ala207=) | ClinVar dbSNP gnomAD v4 |
11 | g.67490802T>A | CA381554360 | AIP | c.1109T>A c.613T>A (p.Tyr205Asn) n.1644T>A c.469-195T>A (n.469-195T>A) c.433T>A (p.Tyr145Asn) c.802T>A (p.Tyr268Asn) c.794T>A (p.Leu265Gln) c.625T>A (p.Tyr209Asn) c.791T>A (p.Leu264Gln) c.622T>A (p.Tyr208Asn) | |
11 | g.67490802T>C | CA381554362 | AIP | c.1109T>C c.613T>C (p.Tyr205His) n.1644T>C c.469-195T>C (n.469-195T>C) c.433T>C (p.Tyr145His) c.802T>C (p.Tyr268His) c.794T>C (p.Leu265Pro) c.625T>C (p.Tyr209His) c.791T>C (p.Leu264Pro) c.622T>C (p.Tyr208His) | ClinVar dbSNP |
11 | g.67490802T>G | CA381554367 | AIP | c.1109T>G c.613T>G (p.Tyr205Asp) n.1644T>G c.469-195T>G (n.469-195T>G) c.433T>G (p.Tyr145Asp) c.802T>G (p.Tyr268Asp) c.794T>G (p.Leu265Arg) c.625T>G (p.Tyr209Asp) c.791T>G (p.Leu264Arg) c.622T>G (p.Tyr208Asp) | |
11 | g.67490802T= | CA1980172641 | AIP | c.1109T= c.613T= (p.Tyr205=) n.1644T= c.469-195T= (n.469-195T=) c.433T= (p.Tyr145=) c.802T= (p.Tyr268=) c.794T= (p.Leu265=) c.625T= (p.Tyr209=) c.791T= (p.Leu264=) c.622T= (p.Tyr208=) | |
11 | g.67490803A= | CA1980172642 | AIP | c.1110A= c.614A= (p.Tyr205=) n.1645A= c.469-194A= (n.469-194A=) c.434A= (p.Tyr145=) c.803A= (p.Tyr268=) c.795A= (p.Leu265=) c.626A= (p.Tyr209=) c.792A= (p.Leu264=) c.623A= (p.Tyr208=) | |
11 | g.67490803A>C | CA381554377 | AIP | c.1110A>C c.614A>C (p.Tyr205Ser) n.1645A>C c.469-194A>C (n.469-194A>C) c.434A>C (p.Tyr145Ser) c.803A>C (p.Tyr268Ser) c.795A>C (p.Leu265=) c.626A>C (p.Tyr209Ser) c.792A>C (p.Leu264=) c.623A>C (p.Tyr208Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490803A>G | CA344187 | AIP | c.1110A>G c.614A>G (p.Tyr205Cys) n.1645A>G c.469-194A>G (n.469-194A>G) c.434A>G (p.Tyr145Cys) c.803A>G (p.Tyr268Cys) c.795A>G (p.Leu265=) c.626A>G (p.Tyr209Cys) c.792A>G (p.Leu264=) c.623A>G (p.Tyr208Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.67490803A>T | CA381554393 | AIP | c.1110A>T c.614A>T (p.Tyr205Phe) n.1645A>T c.469-194A>T (n.469-194A>T) c.434A>T (p.Tyr145Phe) c.803A>T (p.Tyr268Phe) c.795A>T (p.Leu265=) c.626A>T (p.Tyr209Phe) c.792A>T (p.Leu264=) c.623A>T (p.Tyr208Phe) | |
11 | g.67490805_67490825dup | CA344192 | AIP | c.1112_1132dup c.616_636dup (p.His212_Ala213insPheLysArgGlyLysAlaHis) n.1647_1667dup c.469-192_469-172dup (n.469-192_469-172dup) c.436_456dup (p.His152_Ala153insPheLysArgGlyLysAlaHis) c.805_825dup (p.His275_Ala276insPheLysArgGlyLysAlaHis) c.797_817dup (p.Pro272_Arg273insLeuGlnAlaGlyGlnGlyPro) c.628_648dup (p.His216_Ala217insPheLysArgGlyLysAlaHis) c.794_814dup (p.Pro271_Arg272insLeuGlnAlaGlyGlnGlyPro) c.625_645dup (p.His215_Ala216insPheLysArgGlyLysAlaHis) | ClinVar dbSNP gnomAD v4 |
11 | g.67490804C>A | CA117126 | AIP | c.1111C>A c.615C>A (p.Tyr205Ter) n.1646C>A c.469-193C>A (n.469-193C>A) c.435C>A (p.Tyr145Ter) c.804C>A (p.Tyr268Ter) c.796C>A (p.Leu266Ile) c.627C>A (p.Tyr209Ter) c.793C>A (p.Leu265Ile) c.624C>A (p.Tyr208Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.67490804C= | CA1980172643 | AIP | c.1111C= c.615C= (p.Tyr205=) n.1646C= c.469-193C= (n.469-193C=) c.435C= (p.Tyr145=) c.804C= (p.Tyr268=) c.796C= (p.Leu266=) c.627C= (p.Tyr209=) c.793C= (p.Leu265=) c.624C= (p.Tyr208=) | |
11 | g.67490804C>G | CA381554403 | AIP | c.1111C>G c.615C>G (p.Tyr205Ter) n.1646C>G c.469-193C>G (n.469-193C>G) c.435C>G (p.Tyr145Ter) c.804C>G (p.Tyr268Ter) c.796C>G (p.Leu266Val) c.627C>G (p.Tyr209Ter) c.793C>G (p.Leu265Val) c.624C>G (p.Tyr208Ter) | gnomAD v4 |
11 | g.67490804C>T | CA475509423 | AIP | c.1111C>T c.615C>T (p.Tyr205=) n.1646C>T c.469-193C>T (n.469-193C>T) c.435C>T (p.Tyr145=) c.804C>T (p.Tyr268=) c.796C>T (p.Leu266Phe) c.627C>T (p.Tyr209=) c.793C>T (p.Leu265Phe) c.624C>T (p.Tyr208=) | ClinVar dbSNP |
11 | g.67490804dup | CA475509425 | AIP | c.1111dup c.615dup (p.Phe206LeufsTer19) n.1646dup c.469-193dup (n.469-193dup) c.435dup (p.Phe146LeufsTer19) c.804dup (p.Phe269LeufsTer19) c.796dup (p.Leu266ProfsTer?) c.627dup (p.Phe210LeufsTer19) c.793dup (p.Leu265ProfsTer?) c.624dup (p.Phe209LeufsTer19) | COSMIC |
11 | g.67490805T>A | CA381554407 | AIP | c.1112T>A c.616T>A (p.Phe206Ile) n.1647T>A c.469-192T>A (n.469-192T>A) c.436T>A (p.Phe146Ile) c.805T>A (p.Phe269Ile) c.797T>A (p.Leu266His) c.628T>A (p.Phe210Ile) c.794T>A (p.Leu265His) c.625T>A (p.Phe209Ile) | |
11 | g.67490805T>C | CA381554423 | AIP | c.1112T>C c.616T>C (p.Phe206Leu) n.1647T>C c.469-192T>C (n.469-192T>C) c.436T>C (p.Phe146Leu) c.805T>C (p.Phe269Leu) c.797T>C (p.Leu266Pro) c.628T>C (p.Phe210Leu) c.794T>C (p.Leu265Pro) c.625T>C (p.Phe209Leu) | ClinVar |
11 | g.67490805T>G | CA381554425 | AIP | c.1112T>G c.616T>G (p.Phe206Val) n.1647T>G c.469-192T>G (n.469-192T>G) c.436T>G (p.Phe146Val) c.805T>G (p.Phe269Val) c.797T>G (p.Leu266Arg) c.628T>G (p.Phe210Val) c.794T>G (p.Leu265Arg) c.625T>G (p.Phe209Val) | |
11 | g.67490806T>A | CA381554433 | AIP | c.1113T>A c.617T>A (p.Phe206Tyr) n.1648T>A c.469-191T>A (n.469-191T>A) c.437T>A (p.Phe146Tyr) c.806T>A (p.Phe269Tyr) c.798T>A (p.Leu266=) c.629T>A (p.Phe210Tyr) c.795T>A (p.Leu265=) c.626T>A (p.Phe209Tyr) | |
11 | g.67490806T>C | CA381554442 | AIP | c.1113T>C c.617T>C (p.Phe206Ser) n.1648T>C c.469-191T>C (n.469-191T>C) c.437T>C (p.Phe146Ser) c.806T>C (p.Phe269Ser) c.798T>C (p.Leu266=) c.629T>C (p.Phe210Ser) c.795T>C (p.Leu265=) c.626T>C (p.Phe209Ser) | |
11 | g.67490806T>G | CA381554430 | AIP | c.1113T>G c.617T>G (p.Phe206Cys) n.1648T>G c.469-191T>G (n.469-191T>G) c.437T>G (p.Phe146Cys) c.806T>G (p.Phe269Cys) c.798T>G (p.Leu266=) c.629T>G (p.Phe210Cys) c.795T>G (p.Leu265=) c.626T>G (p.Phe209Cys) | |
11 | g.67490807C>A | CA381554448 | AIP | c.1114C>A c.618C>A (p.Phe206Leu) n.1649C>A c.469-190C>A (n.469-190C>A) c.438C>A (p.Phe146Leu) c.807C>A (p.Phe269Leu) c.799C>A (p.Gln267Lys) c.630C>A (p.Phe210Leu) c.796C>A (p.Gln266Lys) c.627C>A (p.Phe209Leu) | ClinVar |
11 | g.67490807C= | CA1980172644 | AIP | c.1114C= c.618C= (p.Phe206=) n.1649C= c.469-190C= (n.469-190C=) c.438C= (p.Phe146=) c.807C= (p.Phe269=) c.799C= (p.Gln267=) c.630C= (p.Phe210=) c.796C= (p.Gln266=) c.627C= (p.Phe209=) | |
11 | g.67490807C>G | CA381554445 | AIP | c.1114C>G c.618C>G (p.Phe206Leu) n.1649C>G c.469-190C>G (n.469-190C>G) c.438C>G (p.Phe146Leu) c.807C>G (p.Phe269Leu) c.799C>G (p.Gln267Glu) c.630C>G (p.Phe210Leu) c.796C>G (p.Gln266Glu) c.627C>G (p.Phe209Leu) | ClinVar COSMIC |
11 | g.67490807C>T | CA344196 | AIP | c.1114C>T c.618C>T (p.Phe206=) n.1649C>T c.469-190C>T (n.469-190C>T) c.438C>T (p.Phe146=) c.807C>T (p.Phe269=) c.799C>T (p.Gln267Ter) c.630C>T (p.Phe210=) c.796C>T (p.Gln266Ter) c.627C>T (p.Phe209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490808A>C | CA381554454 | AIP | c.1115A>C c.619A>C (p.Lys207Gln) n.1650A>C c.469-189A>C (n.469-189A>C) c.439A>C (p.Lys147Gln) c.808A>C (p.Lys270Gln) c.800A>C (p.Gln267Pro) c.631A>C (p.Lys211Gln) c.797A>C (p.Gln266Pro) c.628A>C (p.Lys210Gln) | |
11 | g.67490808A>G | CA381554457 | AIP | c.1115A>G c.619A>G (p.Lys207Glu) n.1650A>G c.469-189A>G (n.469-189A>G) c.439A>G (p.Lys147Glu) c.808A>G (p.Lys270Glu) c.800A>G (p.Gln267Arg) c.631A>G (p.Lys211Glu) c.797A>G (p.Gln266Arg) c.628A>G (p.Lys210Glu) | gnomAD v4 |
11 | g.67490808A>T | CA381554455 | AIP | c.1115A>T c.619A>T (p.Lys207Ter) n.1650A>T c.469-189A>T (n.469-189A>T) c.439A>T (p.Lys147Ter) c.808A>T (p.Lys270Ter) c.800A>T (p.Gln267Leu) c.631A>T (p.Lys211Ter) c.797A>T (p.Gln266Leu) c.628A>T (p.Lys210Ter) | |
11 | g.67490809A>C | CA381554460 | AIP | c.1116A>C c.620A>C (p.Lys207Thr) n.1651A>C c.469-188A>C (n.469-188A>C) c.440A>C (p.Lys147Thr) c.809A>C (p.Lys270Thr) c.801A>C (p.Gln267His) c.632A>C (p.Lys211Thr) c.798A>C (p.Gln266His) c.629A>C (p.Lys210Thr) | ClinVar |
11 | g.67490809A>G | CA381554463 | AIP | c.1116A>G c.620A>G (p.Lys207Arg) n.1651A>G c.469-188A>G (n.469-188A>G) c.440A>G (p.Lys147Arg) c.809A>G (p.Lys270Arg) c.801A>G (p.Gln267=) c.632A>G (p.Lys211Arg) c.798A>G (p.Gln266=) c.629A>G (p.Lys210Arg) | |
11 | g.67490809A>T | CA381554467 | AIP | c.1116A>T c.620A>T (p.Lys207Met) n.1651A>T c.469-188A>T (n.469-188A>T) c.440A>T (p.Lys147Met) c.809A>T (p.Lys270Met) c.801A>T (p.Gln267His) c.632A>T (p.Lys211Met) c.798A>T (p.Gln266His) c.629A>T (p.Lys210Met) | |
11 | g.67490810G>A | CA475509436 | AIP | c.1117G>A c.621G>A (p.Lys207=) n.1652G>A c.469-187G>A (n.469-187G>A) c.441G>A (p.Lys147=) c.810G>A (p.Lys270=) c.802G>A (p.Ala268Thr) c.633G>A (p.Lys211=) c.799G>A (p.Ala267Thr) c.630G>A (p.Lys210=) | |
11 | g.67490810G>C | CA381554468 | AIP | c.1117G>C c.621G>C (p.Lys207Asn) n.1652G>C c.469-187G>C (n.469-187G>C) c.441G>C (p.Lys147Asn) c.810G>C (p.Lys270Asn) c.802G>C (p.Ala268Pro) c.633G>C (p.Lys211Asn) c.799G>C (p.Ala267Pro) c.630G>C (p.Lys210Asn) | |
11 | g.67490810G>T | CA381554469 | AIP | c.1117G>T c.621G>T (p.Lys207Asn) n.1652G>T c.469-187G>T (n.469-187G>T) c.441G>T (p.Lys147Asn) c.810G>T (p.Lys270Asn) c.802G>T (p.Ala268Ser) c.633G>T (p.Lys211Asn) c.799G>T (p.Ala267Ser) c.630G>T (p.Lys210Asn) | |
11 | g.67490811_67490812del | CA2695214807 | AIP | c.1118_1119del c.622_623del (p.Arg208GlyfsTer16) n.1653_1654del c.469-186_469-185del (n.469-186_469-185del) c.442_443del (p.Arg148GlyfsTer16) c.811_812del (p.Arg271GlyfsTer16) c.803_804del (p.Ala268GlyfsTer?) c.634_635del (p.Arg212GlyfsTer16) c.800_801del (p.Ala267GlyfsTer?) c.631_632del (p.Arg211GlyfsTer16) | |
11 | g.67490811C>A | CA475509441 | AIP | c.1118C>A c.622C>A (p.Arg208=) n.1653C>A c.469-186C>A (n.469-186C>A) c.442C>A (p.Arg148=) c.811C>A (p.Arg271=) c.803C>A (p.Ala268Glu) c.634C>A (p.Arg212=) c.800C>A (p.Ala267Glu) c.631C>A (p.Arg211=) | |
11 | g.67490811C= | CA1980172645 | AIP | c.1118C= c.622C= (p.Arg208=) n.1653C= c.469-186C= (n.469-186C=) c.442C= (p.Arg148=) c.811C= (p.Arg271=) c.803C= (p.Ala268=) c.634C= (p.Arg212=) c.800C= (p.Ala267=) c.631C= (p.Arg211=) | |
11 | g.67490811C>G | CA381554470 | AIP | c.1118C>G c.622C>G (p.Arg208Gly) n.1653C>G c.469-186C>G (n.469-186C>G) c.442C>G (p.Arg148Gly) c.811C>G (p.Arg271Gly) c.803C>G (p.Ala268Gly) c.634C>G (p.Arg212Gly) c.800C>G (p.Ala267Gly) c.631C>G (p.Arg211Gly) | |
11 | g.67490811C>T | CA344201 | AIP | c.1118C>T c.622C>T (p.Arg208Trp) n.1653C>T c.469-186C>T (n.469-186C>T) c.442C>T (p.Arg148Trp) c.811C>T (p.Arg271Trp) c.803C>T (p.Ala268Val) c.634C>T (p.Arg212Trp) c.800C>T (p.Ala267Val) c.631C>T (p.Arg211Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.67490812G>A | CA381554472 | AIP | c.1119G>A c.623G>A (p.Arg208Gln) n.1654G>A c.469-185G>A (n.469-185G>A) c.443G>A (p.Arg148Gln) c.812G>A (p.Arg271Gln) c.804G>A (p.Ala268=) c.635G>A (p.Arg212Gln) c.801G>A (p.Ala267=) c.632G>A (p.Arg211Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.67490812G>C | CA381554474 | AIP | c.1119G>C c.623G>C (p.Arg208Pro) n.1654G>C c.469-185G>C (n.469-185G>C) c.443G>C (p.Arg148Pro) c.812G>C (p.Arg271Pro) c.804G>C (p.Ala268=) c.635G>C (p.Arg212Pro) c.801G>C (p.Ala267=) c.632G>C (p.Arg211Pro) | |
11 | g.67490812G= | CA1980172646 | AIP | c.1119G= c.623G= (p.Arg208=) n.1654G= c.469-185G= (n.469-185G=) c.443G= (p.Arg148=) c.812G= (p.Arg271=) c.804G= (p.Ala268=) c.635G= (p.Arg212=) c.801G= (p.Ala267=) c.632G= (p.Arg211=) | |
11 | g.67490812G>T | CA381554480 | AIP | c.1119G>T c.623G>T (p.Arg208Leu) n.1654G>T c.469-185G>T (n.469-185G>T) c.443G>T (p.Arg148Leu) c.812G>T (p.Arg271Leu) c.804G>T (p.Ala268=) c.635G>T (p.Arg212Leu) c.801G>T (p.Ala267=) c.632G>T (p.Arg211Leu) | gnomAD v4 |
11 | g.67490813G>A | CA475509444 | AIP | c.1120G>A c.624G>A (p.Arg208=) n.1655G>A c.469-184G>A (n.469-184G>A) c.444G>A (p.Arg148=) c.813G>A (p.Arg271=) c.805G>A (p.Gly269Arg) c.636G>A (p.Arg212=) c.802G>A (p.Gly268Arg) c.633G>A (p.Arg211=) | |
11 | g.67490813G>C | CA475509448 | AIP | c.1120G>C c.624G>C (p.Arg208=) n.1655G>C c.469-184G>C (n.469-184G>C) c.444G>C (p.Arg148=) c.813G>C (p.Arg271=) c.805G>C (p.Gly269Arg) c.636G>C (p.Arg212=) c.802G>C (p.Gly268Arg) c.633G>C (p.Arg211=) | |
11 | g.67490813G>T | CA475509449 | AIP | c.1120G>T c.624G>T (p.Arg208=) n.1655G>T c.469-184G>T (n.469-184G>T) c.444G>T (p.Arg148=) c.813G>T (p.Arg271=) c.805G>T (p.Gly269Trp) c.636G>T (p.Arg212=) c.802G>T (p.Gly268Trp) c.633G>T (p.Arg211=) | |
11 | g.67490814G>A | CA381554486 | AIP | c.1121G>A c.625G>A (p.Gly209Ser) n.1656G>A c.469-183G>A (n.469-183G>A) c.445G>A (p.Gly149Ser) c.814G>A (p.Gly272Ser) c.806G>A (p.Gly269Glu) c.637G>A (p.Gly213Ser) c.803G>A (p.Gly268Glu) c.634G>A (p.Gly212Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490814G>C | CA381554485 | AIP | c.1121G>C c.625G>C (p.Gly209Arg) n.1656G>C c.469-183G>C (n.469-183G>C) c.445G>C (p.Gly149Arg) c.814G>C (p.Gly272Arg) c.806G>C (p.Gly269Ala) c.637G>C (p.Gly213Arg) c.803G>C (p.Gly268Ala) c.634G>C (p.Gly212Arg) | ClinVar |
11 | g.67490814G= | CA1980172647 | AIP | c.1121G= c.625G= (p.Gly209=) n.1656G= c.469-183G= (n.469-183G=) c.445G= (p.Gly149=) c.814G= (p.Gly272=) c.806G= (p.Gly269=) c.637G= (p.Gly213=) c.803G= (p.Gly268=) c.634G= (p.Gly212=) | |
11 | g.67490814G>T | CA381554483 | AIP | c.1121G>T c.625G>T (p.Gly209Cys) n.1656G>T c.469-183G>T (n.469-183G>T) c.445G>T (p.Gly149Cys) c.814G>T (p.Gly272Cys) c.806G>T (p.Gly269Val) c.637G>T (p.Gly213Cys) c.803G>T (p.Gly268Val) c.634G>T (p.Gly212Cys) | gnomAD v4 |
11 | g.67490815G>A | CA6140983 | AIP | c.1122G>A c.626G>A (p.Gly209Asp) n.1657G>A c.469-182G>A (n.469-182G>A) c.446G>A (p.Gly149Asp) c.815G>A (p.Gly272Asp) c.807G>A (p.Gly269=) c.638G>A (p.Gly213Asp) c.804G>A (p.Gly268=) c.635G>A (p.Gly212Asp) | dbSNP ExAC gnomAD v2 |
11 | g.67490815G>C | CA381554489 | AIP | c.1122G>C c.626G>C (p.Gly209Ala) n.1657G>C c.469-182G>C (n.469-182G>C) c.446G>C (p.Gly149Ala) c.815G>C (p.Gly272Ala) c.807G>C (p.Gly269=) c.638G>C (p.Gly213Ala) c.804G>C (p.Gly268=) c.635G>C (p.Gly212Ala) | |
11 | g.67490815G= | CA1980172648 | AIP | c.1122G= c.626G= (p.Gly209=) n.1657G= c.469-182G= (n.469-182G=) c.446G= (p.Gly149=) c.815G= (p.Gly272=) c.807G= (p.Gly269=) c.638G= (p.Gly213=) c.804G= (p.Gly268=) c.635G= (p.Gly212=) | |
11 | g.67490815G>T | CA381554491 | AIP | c.1122G>T c.626G>T (p.Gly209Val) n.1657G>T c.469-182G>T (n.469-182G>T) c.446G>T (p.Gly149Val) c.815G>T (p.Gly272Val) c.807G>T (p.Gly269=) c.638G>T (p.Gly213Val) c.804G>T (p.Gly268=) c.635G>T (p.Gly212Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.67490816del | CA475509455 | AIP | c.1123del c.627del (p.Lys210ArgfsTer?) n.1658del c.469-181del (n.469-181del) c.447del (p.Lys150ArgfsTer?) c.816del (p.Lys273ArgfsTer?) c.808del (p.Gln270LysfsTer?) c.639del (p.Lys214ArgfsTer?) c.805del (p.Gln269LysfsTer?) c.636del (p.Lys213ArgfsTer?) | ClinVar |
11 | g.67490816C>A | CA475509459 | AIP | c.1123C>A c.627C>A (p.Gly209=) n.1658C>A c.469-181C>A (n.469-181C>A) c.447C>A (p.Gly149=) c.816C>A (p.Gly272=) c.808C>A (p.Gln270Lys) c.639C>A (p.Gly213=) c.805C>A (p.Gln269Lys) c.636C>A (p.Gly212=) | |
11 | g.67490816C>G | CA475509461 | AIP | c.1123C>G c.627C>G (p.Gly209=) n.1658C>G c.469-181C>G (n.469-181C>G) c.447C>G (p.Gly149=) c.816C>G (p.Gly272=) c.808C>G (p.Gln270Glu) c.639C>G (p.Gly213=) c.805C>G (p.Gln269Glu) c.636C>G (p.Gly212=) | |
11 | g.67490816C>T | CA475509457 | AIP | c.1123C>T c.627C>T (p.Gly209=) n.1658C>T c.469-181C>T (n.469-181C>T) c.447C>T (p.Gly149=) c.816C>T (p.Gly272=) c.808C>T (p.Gln270Ter) c.639C>T (p.Gly213=) c.805C>T (p.Gln269Ter) c.636C>T (p.Gly212=) | ClinVar gnomAD v4 |
11 | g.67490817A>C | CA381554492 | AIP | c.1124A>C c.628A>C (p.Lys210Gln) n.1659A>C c.469-180A>C (n.469-180A>C) c.448A>C (p.Lys150Gln) c.817A>C (p.Lys273Gln) c.809A>C (p.Gln270Pro) c.640A>C (p.Lys214Gln) c.806A>C (p.Gln269Pro) c.637A>C (p.Lys213Gln) | |
11 | g.67490817A>G | CA381554494 | AIP | c.1124A>G c.628A>G (p.Lys210Glu) n.1659A>G c.469-180A>G (n.469-180A>G) c.448A>G (p.Lys150Glu) c.817A>G (p.Lys273Glu) c.809A>G (p.Gln270Arg) c.640A>G (p.Lys214Glu) c.806A>G (p.Gln269Arg) c.637A>G (p.Lys213Glu) | |
11 | g.67490817A>T | CA381554498 | AIP | c.1124A>T c.628A>T (p.Lys210Ter) n.1659A>T c.469-180A>T (n.469-180A>T) c.448A>T (p.Lys150Ter) c.817A>T (p.Lys273Ter) c.809A>T (p.Gln270Leu) c.640A>T (p.Lys214Ter) c.806A>T (p.Gln269Leu) c.637A>T (p.Lys213Ter) | |
11 | g.67490818A>C | CA381554500 | AIP | c.1125A>C c.629A>C (p.Lys210Thr) n.1660A>C c.469-179A>C (n.469-179A>C) c.449A>C (p.Lys150Thr) c.818A>C (p.Lys273Thr) c.810A>C (p.Gln270His) c.641A>C (p.Lys214Thr) c.807A>C (p.Gln269His) c.638A>C (p.Lys213Thr) | ClinVar |
11 | g.67490818A>G | CA381554503 | AIP | c.1125A>G c.629A>G (p.Lys210Arg) n.1660A>G c.469-179A>G (n.469-179A>G) c.449A>G (p.Lys150Arg) c.818A>G (p.Lys273Arg) c.810A>G (p.Gln270=) c.641A>G (p.Lys214Arg) c.807A>G (p.Gln269=) c.638A>G (p.Lys213Arg) | |
11 | g.67490818A>T | CA381554505 | AIP | c.1125A>T c.629A>T (p.Lys210Met) n.1660A>T c.469-179A>T (n.469-179A>T) c.449A>T (p.Lys150Met) c.818A>T (p.Lys273Met) c.810A>T (p.Gln270His) c.641A>T (p.Lys214Met) c.807A>T (p.Gln269His) c.638A>T (p.Lys213Met) | gnomAD v4 |
11 | g.67490819G>A | CA475509466 | AIP | c.1126G>A c.630G>A (p.Lys210=) n.1661G>A c.469-178G>A (n.469-178G>A) c.450G>A (p.Lys150=) c.819G>A (p.Lys273=) c.811G>A (p.Gly271Ser) c.642G>A (p.Lys214=) c.808G>A (p.Gly270Ser) c.639G>A (p.Lys213=) | ClinVar |
11 | g.67490819G>C | CA381554508 | AIP | c.1126G>C c.630G>C (p.Lys210Asn) n.1661G>C c.469-178G>C (n.469-178G>C) c.450G>C (p.Lys150Asn) c.819G>C (p.Lys273Asn) c.811G>C (p.Gly271Arg) c.642G>C (p.Lys214Asn) c.808G>C (p.Gly270Arg) c.639G>C (p.Lys213Asn) | |
11 | g.67490819G>T | CA381554512 | AIP | c.1126G>T c.630G>T (p.Lys210Asn) n.1661G>T c.469-178G>T (n.469-178G>T) c.450G>T (p.Lys150Asn) c.819G>T (p.Lys273Asn) c.811G>T (p.Gly271Cys) c.642G>T (p.Lys214Asn) c.808G>T (p.Gly270Cys) c.639G>T (p.Lys213Asn) | |
11 | g.67490820G>A | CA381554520 | AIP | c.1127G>A c.631G>A (p.Ala211Thr) n.1662G>A c.469-177G>A (n.469-177G>A) c.451G>A (p.Ala151Thr) c.820G>A (p.Ala274Thr) c.812G>A (p.Gly271Asp) c.643G>A (p.Ala215Thr) c.809G>A (p.Gly270Asp) c.640G>A (p.Ala214Thr) | ClinVar dbSNP gnomAD v4 |
11 | g.67490820G>C | CA381554523 | AIP | c.1127G>C c.631G>C (p.Ala211Pro) n.1662G>C c.469-177G>C (n.469-177G>C) c.451G>C (p.Ala151Pro) c.820G>C (p.Ala274Pro) c.812G>C (p.Gly271Ala) c.643G>C (p.Ala215Pro) c.809G>C (p.Gly270Ala) c.640G>C (p.Ala214Pro) | |
11 | g.67490820G>T | CA381554516 | AIP | c.1127G>T c.631G>T (p.Ala211Ser) n.1662G>T c.469-177G>T (n.469-177G>T) c.451G>T (p.Ala151Ser) c.820G>T (p.Ala274Ser) c.812G>T (p.Gly271Val) c.643G>T (p.Ala215Ser) c.809G>T (p.Gly270Val) c.640G>T (p.Ala214Ser) | |
11 | g.67490820_67490821delinsTT | CA2739270610 | AIP | c.1127_1128delinsTT c.631_632delinsTT (p.Ala211Phe) n.1662_1663delinsTT c.469-177_469-176delinsTT (n.469-177_469-176delinsTT) c.451_452delinsTT (p.Ala151Phe) c.820_821delinsTT (p.Ala274Phe) c.812_813delinsTT (p.Gly271Val) c.643_644delinsTT (p.Ala215Phe) c.809_810delinsTT (p.Gly270Val) c.640_641delinsTT (p.Ala214Phe) | ClinVar |
11 | g.67490821C>A | CA381554527 | AIP | c.1128C>A c.632C>A (p.Ala211Asp) n.1663C>A c.469-176C>A (n.469-176C>A) c.452C>A (p.Ala151Asp) c.821C>A (p.Ala274Asp) c.813C>A (p.Gly271=) c.644C>A (p.Ala215Asp) c.810C>A (p.Gly270=) c.641C>A (p.Ala214Asp) | |
11 | g.67490821C>G | CA381554531 | AIP | c.1128C>G c.632C>G (p.Ala211Gly) n.1663C>G c.469-176C>G (n.469-176C>G) c.452C>G (p.Ala151Gly) c.821C>G (p.Ala274Gly) c.813C>G (p.Gly271=) c.644C>G (p.Ala215Gly) c.810C>G (p.Gly270=) c.641C>G (p.Ala214Gly) | |
11 | g.67490821C>T | CA381554535 | AIP | c.1128C>T c.632C>T (p.Ala211Val) n.1663C>T c.469-176C>T (n.469-176C>T) c.452C>T (p.Ala151Val) c.821C>T (p.Ala274Val) c.813C>T (p.Gly271=) c.644C>T (p.Ala215Val) c.810C>T (p.Gly270=) c.641C>T (p.Ala214Val) | ClinVar |
11 | g.67490822C>A | CA6140984 | AIP | c.1129C>A c.633C>A (p.Ala211=) n.1664C>A c.469-175C>A (n.469-175C>A) c.453C>A (p.Ala151=) c.822C>A (p.Ala274=) c.814C>A (p.Pro272Thr) c.645C>A (p.Ala215=) c.811C>A (p.Pro271Thr) c.642C>A (p.Ala214=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490822C= | CA1980172649 | AIP | c.1129C= c.633C= (p.Ala211=) n.1664C= c.469-175C= (n.469-175C=) c.453C= (p.Ala151=) c.822C= (p.Ala274=) c.814C= (p.Pro272=) c.645C= (p.Ala215=) c.811C= (p.Pro271=) c.642C= (p.Ala214=) | |
11 | g.67490822C>G | CA475509470 | AIP | c.1129C>G c.633C>G (p.Ala211=) n.1664C>G c.469-175C>G (n.469-175C>G) c.453C>G (p.Ala151=) c.822C>G (p.Ala274=) c.814C>G (p.Pro272Ala) c.645C>G (p.Ala215=) c.811C>G (p.Pro271Ala) c.642C>G (p.Ala214=) | |
11 | g.67490822C>T | CA475509468 | AIP | c.1129C>T c.633C>T (p.Ala211=) n.1664C>T c.469-175C>T (n.469-175C>T) c.453C>T (p.Ala151=) c.822C>T (p.Ala274=) c.814C>T (p.Pro272Ser) c.645C>T (p.Ala215=) c.811C>T (p.Pro271Ser) c.642C>T (p.Ala214=) | |
11 | g.67490823C>A | CA381554549 | AIP | c.1130C>A c.634C>A (p.His212Asn) n.1665C>A c.469-174C>A (n.469-174C>A) c.454C>A (p.His152Asn) c.823C>A (p.His275Asn) c.815C>A (p.Pro272Gln) c.646C>A (p.His216Asn) c.812C>A (p.Pro271Gln) c.643C>A (p.His215Asn) | |
11 | g.67490823C= | CA1980172650 | AIP | c.1130C= c.634C= (p.His212=) n.1665C= c.469-174C= (n.469-174C=) c.454C= (p.His152=) c.823C= (p.His275=) c.815C= (p.Pro272=) c.646C= (p.His216=) c.812C= (p.Pro271=) c.643C= (p.His215=) | |
11 | g.67490823C>G | CA381554552 | AIP | c.1130C>G c.634C>G (p.His212Asp) n.1665C>G c.469-174C>G (n.469-174C>G) c.454C>G (p.His152Asp) c.823C>G (p.His275Asp) c.815C>G (p.Pro272Arg) c.646C>G (p.His216Asp) c.812C>G (p.Pro271Arg) c.643C>G (p.His215Asp) | |
11 | g.67490823C>T | CA381554557 | AIP | c.1130C>T c.634C>T (p.His212Tyr) n.1665C>T c.469-174C>T (n.469-174C>T) c.454C>T (p.His152Tyr) c.823C>T (p.His275Tyr) c.815C>T (p.Pro272Leu) c.646C>T (p.His216Tyr) c.812C>T (p.Pro271Leu) c.643C>T (p.His215Tyr) | ClinVar gnomAD v4 |
11 | g.67490824A>C | CA381554561 | AIP | c.1131A>C c.635A>C (p.His212Pro) n.1666A>C c.469-173A>C (n.469-173A>C) c.455A>C (p.His152Pro) c.824A>C (p.His275Pro) c.816A>C (p.Pro272=) c.647A>C (p.His216Pro) c.813A>C (p.Pro271=) c.644A>C (p.His215Pro) | |
11 | g.67490824A>G | CA381554575 | AIP | c.1131A>G c.635A>G (p.His212Arg) n.1666A>G c.469-173A>G (n.469-173A>G) c.455A>G (p.His152Arg) c.824A>G (p.His275Arg) c.816A>G (p.Pro272=) c.647A>G (p.His216Arg) c.813A>G (p.Pro271=) c.644A>G (p.His215Arg) | |
11 | g.67490824A>T | CA381554579 | AIP | c.1131A>T c.635A>T (p.His212Leu) n.1666A>T c.469-173A>T (n.469-173A>T) c.455A>T (p.His152Leu) c.824A>T (p.His275Leu) c.816A>T (p.Pro272=) c.647A>T (p.His216Leu) c.813A>T (p.Pro271=) c.644A>T (p.His215Leu) | |
11 | g.67490824dup | CA340306 | AIP | c.1131dup c.635dup (p.His212GlnfsTer13) n.1666dup c.469-173dup (n.469-173dup) c.455dup (p.His152GlnfsTer13) c.824dup (p.His275GlnfsTer13) c.816dup (p.Arg273ThrfsTer28) c.647dup (p.His216GlnfsTer13) c.813dup (p.Arg272ThrfsTer28) c.644dup (p.His215GlnfsTer13) | ClinVar dbSNP |
11 | g.67490825C>A | CA381554585 | AIP | c.1132C>A c.636C>A (p.His212Gln) n.1667C>A c.469-172C>A (n.469-172C>A) c.456C>A (p.His152Gln) c.825C>A (p.His275Gln) c.817C>A (p.Arg273Ser) c.648C>A (p.His216Gln) c.814C>A (p.Arg272Ser) c.645C>A (p.His215Gln) | |
11 | g.67490825C= | CA1980172651 | AIP | c.1132C= c.636C= (p.His212=) n.1667C= c.469-172C= (n.469-172C=) c.456C= (p.His152=) c.825C= (p.His275=) c.817C= (p.Arg273=) c.648C= (p.His216=) c.814C= (p.Arg272=) c.645C= (p.His215=) | |
11 | g.67490825C>G | CA381554594 | AIP | c.1132C>G c.636C>G (p.His212Gln) n.1667C>G c.469-172C>G (n.469-172C>G) c.456C>G (p.His152Gln) c.825C>G (p.His275Gln) c.817C>G (p.Arg273Gly) c.648C>G (p.His216Gln) c.814C>G (p.Arg272Gly) c.645C>G (p.His215Gln) | gnomAD v4 |
11 | g.67490825C>T | CA6140985 | AIP | c.1132C>T c.636C>T (p.His212=) n.1667C>T c.469-172C>T (n.469-172C>T) c.456C>T (p.His152=) c.825C>T (p.His275=) c.817C>T (p.Arg273Cys) c.648C>T (p.His216=) c.814C>T (p.Arg272Cys) c.645C>T (p.His215=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490826G>A | CA6140986 | AIP | c.1133G>A c.637G>A (p.Ala213Thr) n.1668G>A c.469-171G>A (n.469-171G>A) c.457G>A (p.Ala153Thr) c.826G>A (p.Ala276Thr) c.818G>A (p.Arg273His) c.649G>A (p.Ala217Thr) c.815G>A (p.Arg272His) c.646G>A (p.Ala216Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.67490826G>C | CA381554609 | AIP | c.1133G>C c.637G>C (p.Ala213Pro) n.1668G>C c.469-171G>C (n.469-171G>C) c.457G>C (p.Ala153Pro) c.826G>C (p.Ala276Pro) c.818G>C (p.Arg273Pro) c.649G>C (p.Ala217Pro) c.815G>C (p.Arg272Pro) c.646G>C (p.Ala216Pro) | |
11 | g.67490826G= | CA1980172652 | AIP | c.1133G= c.637G= (p.Ala213=) n.1668G= c.469-171G= (n.469-171G=) c.457G= (p.Ala153=) c.826G= (p.Ala276=) c.818G= (p.Arg273=) c.649G= (p.Ala217=) c.815G= (p.Arg272=) c.646G= (p.Ala216=) | |
11 | g.67490826G>T | CA381554606 | AIP | c.1133G>T c.637G>T (p.Ala213Ser) n.1668G>T c.469-171G>T (n.469-171G>T) c.457G>T (p.Ala153Ser) c.826G>T (p.Ala276Ser) c.818G>T (p.Arg273Leu) c.649G>T (p.Ala217Ser) c.815G>T (p.Arg272Leu) c.646G>T (p.Ala216Ser) | |
11 | g.67490836_67490837insCCCAGCGGCCGTGTG | CA600236229 | AIP | c.1143_1144insCCCAGCGGCCGTGTG c.647_648insCCCAGCGGCCGTGTG (p.Val215_Trp216insCysProAlaAlaVal) n.1678_1679insCCCAGCGGCCGTGTG c.469-161_469-160insCCCAGCGGCCGTGTG (n.469-161_469-160insCCCAGCGGCCGTGTG) c.467_468insCCCAGCGGCCGTGTG (p.Val155_Trp156insCysProAlaAlaVal) c.836_837insCCCAGCGGCCGTGTG (p.Val278_Trp279insCysProAlaAlaVal) c.828_829insCCCAGCGGCCGTGTG (p.Val276_Glu277insProSerGlyArgVal) c.659_660insCCCAGCGGCCGTGTG (p.Val219_Trp220insCysProAlaAlaVal) c.825_826insCCCAGCGGCCGTGTG (p.Val275_Glu276insProSerGlyArgVal) c.656_657insCCCAGCGGCCGTGTG (p.Val218_Trp219insCysProAlaAlaVal) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.67490827C>A | CA381554615 | AIP | c.1134C>A c.638C>A (p.Ala213Glu) n.1669C>A c.469-170C>A (n.469-170C>A) c.458C>A (p.Ala153Glu) c.827C>A (p.Ala276Glu) c.819C>A (p.Arg273=) c.650C>A (p.Ala217Glu) c.816C>A (p.Arg272=) c.647C>A (p.Ala216Glu) | dbSNP |
11 | g.67490827C= | CA1980172653 | AIP | c.1134C= c.638C= (p.Ala213=) n.1669C= c.469-170C= (n.469-170C=) c.458C= (p.Ala153=) c.827C= (p.Ala276=) c.819C= (p.Arg273=) c.650C= (p.Ala217=) c.816C= (p.Arg272=) c.647C= (p.Ala216=) | |
11 | g.67490827C>G | CA381554619 | AIP | c.1134C>G c.638C>G (p.Ala213Gly) n.1669C>G c.469-170C>G (n.469-170C>G) c.458C>G (p.Ala153Gly) c.827C>G (p.Ala276Gly) c.819C>G (p.Arg273=) c.650C>G (p.Ala217Gly) c.816C>G (p.Arg272=) c.647C>G (p.Ala216Gly) | ClinVar dbSNP gnomAD v4 |
11 | g.67490827C>T | CA6140987 | AIP | c.1134C>T c.638C>T (p.Ala213Val) n.1669C>T c.469-170C>T (n.469-170C>T) c.458C>T (p.Ala153Val) c.827C>T (p.Ala276Val) c.819C>T (p.Arg273=) c.650C>T (p.Ala217Val) c.816C>T (p.Arg272=) c.647C>T (p.Ala216Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490828G>A | CA475509478 | AIP | c.1135G>A c.639G>A (p.Ala213=) n.1670G>A c.469-169G>A (n.469-169G>A) c.459G>A (p.Ala153=) c.828G>A (p.Ala276=) c.820G>A (p.Gly274Ser) c.651G>A (p.Ala217=) c.817G>A (p.Gly273Ser) c.648G>A (p.Ala216=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490828G>C | CA475509479 | AIP | c.1135G>C c.639G>C (p.Ala213=) n.1670G>C c.469-169G>C (n.469-169G>C) c.459G>C (p.Ala153=) c.828G>C (p.Ala276=) c.820G>C (p.Gly274Arg) c.651G>C (p.Ala217=) c.817G>C (p.Gly273Arg) c.648G>C (p.Ala216=) | |
11 | g.67490828G= | CA1980172654 | AIP | c.1135G= c.639G= (p.Ala213=) n.1670G= c.469-169G= (n.469-169G=) c.459G= (p.Ala153=) c.828G= (p.Ala276=) c.820G= (p.Gly274=) c.651G= (p.Ala217=) c.817G= (p.Gly273=) c.648G= (p.Ala216=) | |
11 | g.67490828G>T | CA475509480 | AIP | c.1135G>T c.639G>T (p.Ala213=) n.1670G>T c.469-169G>T (n.469-169G>T) c.459G>T (p.Ala153=) c.828G>T (p.Ala276=) c.820G>T (p.Gly274Cys) c.651G>T (p.Ala217=) c.817G>T (p.Gly273Cys) c.648G>T (p.Ala216=) | |
11 | g.67490829G>A | CA381554627 | AIP | c.1136G>A c.640G>A (p.Ala214Thr) n.1671G>A c.469-168G>A (n.469-168G>A) c.460G>A (p.Ala154Thr) c.829G>A (p.Ala277Thr) c.821G>A (p.Gly274Asp) c.652G>A (p.Ala218Thr) c.818G>A (p.Gly273Asp) c.649G>A (p.Ala217Thr) | |
11 | g.67490829G>C | CA344205 | AIP | c.1136G>C c.640G>C (p.Ala214Pro) n.1671G>C c.469-168G>C (n.469-168G>C) c.460G>C (p.Ala154Pro) c.829G>C (p.Ala277Pro) c.821G>C (p.Gly274Ala) c.652G>C (p.Ala218Pro) c.818G>C (p.Gly273Ala) c.649G>C (p.Ala217Pro) | ClinVar dbSNP |
11 | g.67490829G= | CA1980172655 | AIP | c.1136G= c.640G= (p.Ala214=) n.1671G= c.469-168G= (n.469-168G=) c.460G= (p.Ala154=) c.829G= (p.Ala277=) c.821G= (p.Gly274=) c.652G= (p.Ala218=) c.818G= (p.Gly273=) c.649G= (p.Ala217=) | |
11 | g.67490829G>T | CA381554635 | AIP | c.1136G>T c.640G>T (p.Ala214Ser) n.1671G>T c.469-168G>T (n.469-168G>T) c.460G>T (p.Ala154Ser) c.829G>T (p.Ala277Ser) c.821G>T (p.Gly274Val) c.652G>T (p.Ala218Ser) c.818G>T (p.Gly273Val) c.649G>T (p.Ala217Ser) | |
11 | g.67490830C>A | CA381554639 | AIP | c.1137C>A c.641C>A (p.Ala214Asp) n.1672C>A c.469-167C>A (n.469-167C>A) c.461C>A (p.Ala154Asp) c.830C>A (p.Ala277Asp) c.822C>A (p.Gly274=) c.653C>A (p.Ala218Asp) c.819C>A (p.Gly273=) c.650C>A (p.Ala217Asp) | COSMIC |
11 | g.67490830C= | CA1980172656 | AIP | c.1137C= c.641C= (p.Ala214=) n.1672C= c.469-167C= (n.469-167C=) c.461C= (p.Ala154=) c.830C= (p.Ala277=) c.822C= (p.Gly274=) c.653C= (p.Ala218=) c.819C= (p.Gly273=) c.650C= (p.Ala217=) | |
11 | g.67490830C>G | CA381554642 | AIP | c.1137C>G c.641C>G (p.Ala214Gly) n.1672C>G c.469-167C>G (n.469-167C>G) c.461C>G (p.Ala154Gly) c.830C>G (p.Ala277Gly) c.822C>G (p.Gly274=) c.653C>G (p.Ala218Gly) c.819C>G (p.Gly273=) c.650C>G (p.Ala217Gly) | |
11 | g.67490830C>T | CA381554648 | AIP | c.1137C>T c.641C>T (p.Ala214Val) n.1672C>T c.469-167C>T (n.469-167C>T) c.461C>T (p.Ala154Val) c.830C>T (p.Ala277Val) c.822C>T (p.Gly274=) c.653C>T (p.Ala218Val) c.819C>T (p.Gly273=) c.650C>T (p.Ala217Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490831C>A | CA475509485 | AIP | c.1138C>A c.642C>A (p.Ala214=) n.1673C>A c.469-166C>A (n.469-166C>A) c.462C>A (p.Ala154=) c.831C>A (p.Ala277=) c.823C>A (p.Arg275Ser) c.654C>A (p.Ala218=) c.820C>A (p.Arg274Ser) c.651C>A (p.Ala217=) | |
11 | g.67490831C= | CA1980172657 | AIP | c.1138C= c.642C= (p.Ala214=) n.1673C= c.469-166C= (n.469-166C=) c.462C= (p.Ala154=) c.831C= (p.Ala277=) c.823C= (p.Arg275=) c.654C= (p.Ala218=) c.820C= (p.Arg274=) c.651C= (p.Ala217=) | |
11 | g.67490831C>G | CA475509487 | AIP | c.1138C>G c.642C>G (p.Ala214=) n.1673C>G c.469-166C>G (n.469-166C>G) c.462C>G (p.Ala154=) c.831C>G (p.Ala277=) c.823C>G (p.Arg275Gly) c.654C>G (p.Ala218=) c.820C>G (p.Arg274Gly) c.651C>G (p.Ala217=) | |
11 | g.67490831C>T | CA6140988 | AIP | c.1138C>T c.642C>T (p.Ala214=) n.1673C>T c.469-166C>T (n.469-166C>T) c.462C>T (p.Ala154=) c.831C>T (p.Ala277=) c.823C>T (p.Arg275Cys) c.654C>T (p.Ala218=) c.820C>T (p.Arg274Cys) c.651C>T (p.Ala217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490832G>A | CA6140989 | AIP | c.1139G>A c.643G>A (p.Val215Met) n.1674G>A c.469-165G>A (n.469-165G>A) c.463G>A (p.Val155Met) c.832G>A (p.Val278Met) c.824G>A (p.Arg275His) c.655G>A (p.Val219Met) c.821G>A (p.Arg274His) c.652G>A (p.Val218Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.67490832G>C | CA381554662 | AIP | c.1139G>C c.643G>C (p.Val215Leu) n.1674G>C c.469-165G>C (n.469-165G>C) c.463G>C (p.Val155Leu) c.832G>C (p.Val278Leu) c.824G>C (p.Arg275Pro) c.655G>C (p.Val219Leu) c.821G>C (p.Arg274Pro) c.652G>C (p.Val218Leu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.67490832G= | CA1980172658 | AIP | c.1139G= c.643G= (p.Val215=) n.1674G= c.469-165G= (n.469-165G=) c.463G= (p.Val155=) c.832G= (p.Val278=) c.824G= (p.Arg275=) c.655G= (p.Val219=) c.821G= (p.Arg274=) c.652G= (p.Val218=) | |
11 | g.67490832G>T | CA381554664 | AIP | c.1139G>T c.643G>T (p.Val215Leu) n.1674G>T c.469-165G>T (n.469-165G>T) c.463G>T (p.Val155Leu) c.832G>T (p.Val278Leu) c.824G>T (p.Arg275Leu) c.655G>T (p.Val219Leu) c.821G>T (p.Arg274Leu) c.652G>T (p.Val218Leu) | ClinVar dbSNP |
11 | g.67490833T>A | CA381554677 | AIP | c.1140T>A c.644T>A (p.Val215Glu) n.1675T>A c.469-164T>A (n.469-164T>A) c.464T>A (p.Val155Glu) c.833T>A (p.Val278Glu) c.825T>A (p.Arg275=) c.656T>A (p.Val219Glu) c.822T>A (p.Arg274=) c.653T>A (p.Val218Glu) | |
11 | g.67490833T>C | CA381554674 | AIP | c.1140T>C c.644T>C (p.Val215Ala) n.1675T>C c.469-164T>C (n.469-164T>C) c.464T>C (p.Val155Ala) c.833T>C (p.Val278Ala) c.825T>C (p.Arg275=) c.656T>C (p.Val219Ala) c.822T>C (p.Arg274=) c.653T>C (p.Val218Ala) | |
11 | g.67490833T>G | CA224165894 | AIP | c.1140T>G c.644T>G (p.Val215Gly) n.1675T>G c.469-164T>G (n.469-164T>G) c.464T>G (p.Val155Gly) c.833T>G (p.Val278Gly) c.825T>G (p.Arg275=) c.656T>G (p.Val219Gly) c.822T>G (p.Arg274=) c.653T>G (p.Val218Gly) | dbSNP |
11 | g.67490833T= | CA1980172659 | AIP | c.1140T= c.644T= (p.Val215=) n.1675T= c.469-164T= (n.469-164T=) c.464T= (p.Val155=) c.833T= (p.Val278=) c.825T= (p.Arg275=) c.656T= (p.Val219=) c.822T= (p.Arg274=) c.653T= (p.Val218=) | |
11 | g.67490834G>A | CA6140990 | AIP | c.1141G>A c.645G>A (p.Val215=) n.1676G>A c.469-163G>A (n.469-163G>A) c.465G>A (p.Val155=) c.834G>A (p.Val278=) c.826G>A (p.Val276Met) c.657G>A (p.Val219=) c.823G>A (p.Val275Met) c.654G>A (p.Val218=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490834G>C | CA475509494 | AIP | c.1141G>C c.645G>C (p.Val215=) n.1676G>C c.469-163G>C (n.469-163G>C) c.465G>C (p.Val155=) c.834G>C (p.Val278=) c.826G>C (p.Val276Leu) c.657G>C (p.Val219=) c.823G>C (p.Val275Leu) c.654G>C (p.Val218=) | |
11 | g.67490834G= | CA1980172660 | AIP | c.1141G= c.645G= (p.Val215=) n.1676G= c.469-163G= (n.469-163G=) c.465G= (p.Val155=) c.834G= (p.Val278=) c.826G= (p.Val276=) c.657G= (p.Val219=) c.823G= (p.Val275=) c.654G= (p.Val218=) | |
11 | g.67490834G>T | CA475509495 | AIP | c.1141G>T c.645G>T (p.Val215=) n.1676G>T c.469-163G>T (n.469-163G>T) c.465G>T (p.Val155=) c.834G>T (p.Val278=) c.826G>T (p.Val276Leu) c.657G>T (p.Val219=) c.823G>T (p.Val275Leu) c.654G>T (p.Val218=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490835T>A | CA381554685 | AIP | c.1142T>A c.646T>A (p.Trp216Arg) n.1677T>A c.469-162T>A (n.469-162T>A) c.466T>A (p.Trp156Arg) c.835T>A (p.Trp279Arg) c.827T>A (p.Val276Glu) c.658T>A (p.Trp220Arg) c.824T>A (p.Val275Glu) c.655T>A (p.Trp219Arg) | |
11 | g.67490835T>C | CA381554690 | AIP | c.1142T>C c.646T>C (p.Trp216Arg) n.1677T>C c.469-162T>C (n.469-162T>C) c.466T>C (p.Trp156Arg) c.835T>C (p.Trp279Arg) c.827T>C (p.Val276Ala) c.658T>C (p.Trp220Arg) c.824T>C (p.Val275Ala) c.655T>C (p.Trp219Arg) | |
11 | g.67490835T>G | CA381554689 | AIP | c.1142T>G c.646T>G (p.Trp216Gly) n.1677T>G c.469-162T>G (n.469-162T>G) c.466T>G (p.Trp156Gly) c.835T>G (p.Trp279Gly) c.827T>G (p.Val276Gly) c.658T>G (p.Trp220Gly) c.824T>G (p.Val275Gly) c.655T>G (p.Trp219Gly) | |
11 | g.67490836G>A | CA381554692 | AIP | c.1143G>A c.647G>A (p.Trp216Ter) n.1678G>A c.469-161G>A (n.469-161G>A) c.467G>A (p.Trp156Ter) c.836G>A (p.Trp279Ter) c.828G>A (p.Val276=) c.659G>A (p.Trp220Ter) c.825G>A (p.Val275=) c.656G>A (p.Trp219Ter) | dbSNP |
11 | g.67490836G>C | CA381554695 | AIP | c.1143G>C c.647G>C (p.Trp216Ser) n.1678G>C c.469-161G>C (n.469-161G>C) c.467G>C (p.Trp156Ser) c.836G>C (p.Trp279Ser) c.828G>C (p.Val276=) c.659G>C (p.Trp220Ser) c.825G>C (p.Val275=) c.656G>C (p.Trp219Ser) | |
11 | g.67490836G= | CA1980172661 | AIP | c.1143G= c.647G= (p.Trp216=) n.1678G= c.469-161G= (n.469-161G=) c.467G= (p.Trp156=) c.836G= (p.Trp279=) c.828G= (p.Val276=) c.659G= (p.Trp220=) c.825G= (p.Val275=) c.656G= (p.Trp219=) | |
11 | g.67490836G>T | CA381554696 | AIP | c.1143G>T c.647G>T (p.Trp216Leu) n.1678G>T c.469-161G>T (n.469-161G>T) c.467G>T (p.Trp156Leu) c.836G>T (p.Trp279Leu) c.828G>T (p.Val276=) c.659G>T (p.Trp220Leu) c.825G>T (p.Val275=) c.656G>T (p.Trp219Leu) | |
11 | g.67490837G>A | CA381554701 | AIP | c.1144G>A c.648G>A (p.Trp216Ter) n.1679G>A c.469-160G>A (n.469-160G>A) c.468G>A (p.Trp156Ter) c.837G>A (p.Trp279Ter) c.829G>A (p.Glu277Lys) c.660G>A (p.Trp220Ter) c.826G>A (p.Glu276Lys) c.657G>A (p.Trp219Ter) | |
11 | g.67490837G>C | CA381554704 | AIP | c.1144G>C c.648G>C (p.Trp216Cys) n.1679G>C c.469-160G>C (n.469-160G>C) c.468G>C (p.Trp156Cys) c.837G>C (p.Trp279Cys) c.829G>C (p.Glu277Gln) c.660G>C (p.Trp220Cys) c.826G>C (p.Glu276Gln) c.657G>C (p.Trp219Cys) | |
11 | g.67490837G>T | CA381554706 | AIP | c.1144G>T c.648G>T (p.Trp216Cys) n.1679G>T c.469-160G>T (n.469-160G>T) c.468G>T (p.Trp156Cys) c.837G>T (p.Trp279Cys) c.829G>T (p.Glu277Ter) c.660G>T (p.Trp220Cys) c.826G>T (p.Glu276Ter) c.657G>T (p.Trp219Cys) | |
11 | g.67490838A>C | CA381554711 | AIP | c.1145A>C c.649A>C (p.Asn217His) n.1680A>C c.469-159A>C (n.469-159A>C) c.469A>C (p.Asn157His) c.838A>C (p.Asn280His) c.830A>C (p.Glu277Ala) c.661A>C (p.Asn221His) c.827A>C (p.Glu276Ala) c.658A>C (p.Asn220His) | |
11 | g.67490838A>G | CA381554714 | AIP | c.1145A>G c.649A>G (p.Asn217Asp) n.1680A>G c.469-159A>G (n.469-159A>G) c.469A>G (p.Asn157Asp) c.838A>G (p.Asn280Asp) c.830A>G (p.Glu277Gly) c.661A>G (p.Asn221Asp) c.827A>G (p.Glu276Gly) c.658A>G (p.Asn220Asp) | |
11 | g.67490838A>T | CA381554715 | AIP | c.1145A>T c.649A>T (p.Asn217Tyr) n.1680A>T c.469-159A>T (n.469-159A>T) c.469A>T (p.Asn157Tyr) c.838A>T (p.Asn280Tyr) c.830A>T (p.Glu277Val) c.661A>T (p.Asn221Tyr) c.827A>T (p.Glu276Val) c.658A>T (p.Asn220Tyr) | |
11 | g.67490839A>C | CA381554719 | AIP | c.1146A>C c.650A>C (p.Asn217Thr) n.1681A>C c.469-158A>C (n.469-158A>C) c.470A>C (p.Asn157Thr) c.839A>C (p.Asn280Thr) c.831A>C (p.Glu277Asp) c.662A>C (p.Asn221Thr) c.828A>C (p.Glu276Asp) c.659A>C (p.Asn220Thr) | |
11 | g.67490839A>G | CA381554722 | AIP | c.1146A>G c.650A>G (p.Asn217Ser) n.1681A>G c.469-158A>G (n.469-158A>G) c.470A>G (p.Asn157Ser) c.839A>G (p.Asn280Ser) c.831A>G (p.Glu277=) c.662A>G (p.Asn221Ser) c.828A>G (p.Glu276=) c.659A>G (p.Asn220Ser) | ClinVar |
11 | g.67490839A>T | CA381554725 | AIP | c.1146A>T c.650A>T (p.Asn217Ile) n.1681A>T c.469-158A>T (n.469-158A>T) c.470A>T (p.Asn157Ile) c.839A>T (p.Asn280Ile) c.831A>T (p.Glu277Asp) c.662A>T (p.Asn221Ile) c.828A>T (p.Glu276Asp) c.659A>T (p.Asn220Ile) | |
11 | g.67490840T>A | CA381554731 | AIP | c.1147T>A c.651T>A (p.Asn217Lys) n.1682T>A c.469-157T>A (n.469-157T>A) c.471T>A (p.Asn157Lys) c.840T>A (p.Asn280Lys) c.832T>A (p.Cys278Ser) c.663T>A (p.Asn221Lys) c.829T>A (p.Cys277Ser) c.660T>A (p.Asn220Lys) | |
11 | g.67490840T>C | CA475509502 | AIP | c.1147T>C c.651T>C (p.Asn217=) n.1682T>C c.469-157T>C (n.469-157T>C) c.471T>C (p.Asn157=) c.840T>C (p.Asn280=) c.832T>C (p.Cys278Arg) c.663T>C (p.Asn221=) c.829T>C (p.Cys277Arg) c.660T>C (p.Asn220=) | |
11 | g.67490840T>G | CA381554729 | AIP | c.1147T>G c.651T>G (p.Asn217Lys) n.1682T>G c.469-157T>G (n.469-157T>G) c.471T>G (p.Asn157Lys) c.840T>G (p.Asn280Lys) c.832T>G (p.Cys278Gly) c.663T>G (p.Asn221Lys) c.829T>G (p.Cys277Gly) c.660T>G (p.Asn220Lys) | |
11 | g.67490841G>A | CA381554735 | AIP | c.1148G>A c.652G>A (p.Ala218Thr) n.1683G>A c.469-156G>A (n.469-156G>A) c.472G>A (p.Ala158Thr) c.841G>A (p.Ala281Thr) c.833G>A (p.Cys278Tyr) c.664G>A (p.Ala222Thr) c.830G>A (p.Cys277Tyr) c.661G>A (p.Ala221Thr) | |
11 | g.67490841G>C | CA381554737 | AIP | c.1148G>C c.652G>C (p.Ala218Pro) n.1683G>C c.469-156G>C (n.469-156G>C) c.472G>C (p.Ala158Pro) c.841G>C (p.Ala281Pro) c.833G>C (p.Cys278Ser) c.664G>C (p.Ala222Pro) c.830G>C (p.Cys277Ser) c.661G>C (p.Ala221Pro) | |
11 | g.67490841G>T | CA381554740 | AIP | c.1148G>T c.652G>T (p.Ala218Ser) n.1683G>T c.469-156G>T (n.469-156G>T) c.472G>T (p.Ala158Ser) c.841G>T (p.Ala281Ser) c.833G>T (p.Cys278Phe) c.664G>T (p.Ala222Ser) c.830G>T (p.Cys277Phe) c.661G>T (p.Ala221Ser) | |
11 | g.67490842C>A | CA381554743 | AIP | c.1149C>A c.653C>A (p.Ala218Asp) n.1684C>A c.469-155C>A (n.469-155C>A) c.473C>A (p.Ala158Asp) c.842C>A (p.Ala281Asp) c.834C>A (p.Cys278Ter) c.665C>A (p.Ala222Asp) c.831C>A (p.Cys277Ter) c.662C>A (p.Ala221Asp) | |
11 | g.67490842C= | CA1980172662 | AIP | c.1149C= c.653C= (p.Ala218=) n.1684C= c.469-155C= (n.469-155C=) c.473C= (p.Ala158=) c.842C= (p.Ala281=) c.834C= (p.Cys278=) c.665C= (p.Ala222=) c.831C= (p.Cys277=) c.662C= (p.Ala221=) | |
11 | g.67490842C>G | CA381554746 | AIP | c.1149C>G c.653C>G (p.Ala218Gly) n.1684C>G c.469-155C>G (n.469-155C>G) c.473C>G (p.Ala158Gly) c.842C>G (p.Ala281Gly) c.834C>G (p.Cys278Trp) c.665C>G (p.Ala222Gly) c.831C>G (p.Cys277Trp) c.662C>G (p.Ala221Gly) | |
11 | g.67490842C>T | CA381554749 | AIP | c.1149C>T c.653C>T (p.Ala218Val) n.1684C>T c.469-155C>T (n.469-155C>T) c.473C>T (p.Ala158Val) c.842C>T (p.Ala281Val) c.834C>T (p.Cys278=) c.665C>T (p.Ala222Val) c.831C>T (p.Cys277=) c.662C>T (p.Ala221Val) | ClinVar dbSNP |
11 | g.67490844dup | CA2695198923 | AIP | c.1151dup c.655dup (p.Gln219ProfsTer6) n.1686dup c.469-153dup (n.469-153dup) c.475dup (p.Gln159ProfsTer6) c.844dup (p.Gln282ProfsTer6) c.836dup (p.Gly280ArgfsTer21) c.667dup (p.Gln223ProfsTer6) c.833dup (p.Gly279ArgfsTer21) c.664dup (p.Gln222ProfsTer6) | ClinVar |
11 | g.67490843C>A | CA475509506 | AIP | c.1150C>A c.654C>A (p.Ala218=) n.1685C>A c.469-154C>A (n.469-154C>A) c.474C>A (p.Ala158=) c.843C>A (p.Ala281=) c.835C>A (p.Pro279Thr) c.666C>A (p.Ala222=) c.832C>A (p.Pro278Thr) c.663C>A (p.Ala221=) | |
11 | g.67490843C>G | CA475509507 | AIP | c.1150C>G c.654C>G (p.Ala218=) n.1685C>G c.469-154C>G (n.469-154C>G) c.474C>G (p.Ala158=) c.843C>G (p.Ala281=) c.835C>G (p.Pro279Ala) c.666C>G (p.Ala222=) c.832C>G (p.Pro278Ala) c.663C>G (p.Ala221=) | |
11 | g.67490843C>T | CA475509508 | AIP | c.1150C>T c.654C>T (p.Ala218=) n.1685C>T c.469-154C>T (n.469-154C>T) c.474C>T (p.Ala158=) c.843C>T (p.Ala281=) c.835C>T (p.Pro279Ser) c.666C>T (p.Ala222=) c.832C>T (p.Pro278Ser) c.663C>T (p.Ala221=) | |
11 | g.67490844C>A | CA381554753 | AIP | c.1151C>A c.655C>A (p.Gln219Lys) n.1686C>A c.469-153C>A (n.469-153C>A) c.475C>A (p.Gln159Lys) c.844C>A (p.Gln282Lys) c.836C>A (p.Pro279Gln) c.667C>A (p.Gln223Lys) c.833C>A (p.Pro278Gln) c.664C>A (p.Gln222Lys) | |
11 | g.67490844C>G | CA381554763 | AIP | c.1151C>G c.655C>G (p.Gln219Glu) n.1686C>G c.469-153C>G (n.469-153C>G) c.475C>G (p.Gln159Glu) c.844C>G (p.Gln282Glu) c.836C>G (p.Pro279Arg) c.667C>G (p.Gln223Glu) c.833C>G (p.Pro278Arg) c.664C>G (p.Gln222Glu) | |
11 | g.67490844C>T | CA381554767 | AIP | c.1151C>T c.655C>T (p.Gln219Ter) n.1686C>T c.469-153C>T (n.469-153C>T) c.475C>T (p.Gln159Ter) c.844C>T (p.Gln282Ter) c.836C>T (p.Pro279Leu) c.667C>T (p.Gln223Ter) c.833C>T (p.Pro278Leu) c.664C>T (p.Gln222Ter) | |
11 | g.67490845A>C | CA381554772 | AIP | c.1152A>C c.656A>C (p.Gln219Pro) n.1687A>C c.469-152A>C (n.469-152A>C) c.476A>C (p.Gln159Pro) c.845A>C (p.Gln282Pro) c.837A>C (p.Pro279=) c.668A>C (p.Gln223Pro) c.834A>C (p.Pro278=) c.665A>C (p.Gln222Pro) | |
11 | g.67490845A>G | CA381554774 | AIP | c.1152A>G c.656A>G (p.Gln219Arg) n.1687A>G c.469-152A>G (n.469-152A>G) c.476A>G (p.Gln159Arg) c.845A>G (p.Gln282Arg) c.837A>G (p.Pro279=) c.668A>G (p.Gln223Arg) c.834A>G (p.Pro278=) c.665A>G (p.Gln222Arg) | ClinVar dbSNP |
11 | g.67490845A>T | CA381554778 | AIP | c.1152A>T c.656A>T (p.Gln219Leu) n.1687A>T c.469-152A>T (n.469-152A>T) c.476A>T (p.Gln159Leu) c.845A>T (p.Gln282Leu) c.837A>T (p.Pro279=) c.668A>T (p.Gln223Leu) c.834A>T (p.Pro278=) c.665A>T (p.Gln222Leu) | |
11 | g.67490845dup | CA2839745831 | AIP | c.1152dup c.656dup (p.Glu220GlyfsTer5) n.1687dup c.469-152dup (n.469-152dup) c.476dup (p.Glu160GlyfsTer5) c.845dup (p.Glu283GlyfsTer5) c.837dup (p.Gly280ArgfsTer21) c.668dup (p.Glu224GlyfsTer5) c.834dup (p.Gly279ArgfsTer21) c.665dup (p.Glu223GlyfsTer5) | |
11 | g.67490846G>A | CA475509514 | AIP | c.1153G>A c.657G>A (p.Gln219=) n.1688G>A c.469-151G>A (n.469-151G>A) c.477G>A (p.Gln159=) c.846G>A (p.Gln282=) c.838G>A (p.Gly280Arg) c.669G>A (p.Gln223=) c.835G>A (p.Gly279Arg) c.666G>A (p.Gln222=) | |
11 | g.67490846G>C | CA381554793 | AIP | c.1153G>C c.657G>C (p.Gln219His) n.1688G>C c.469-151G>C (n.469-151G>C) c.477G>C (p.Gln159His) c.846G>C (p.Gln282His) c.838G>C (p.Gly280Arg) c.669G>C (p.Gln223His) c.835G>C (p.Gly279Arg) c.666G>C (p.Gln222His) | |
11 | g.67490846G>T | CA381554781 | AIP | c.1153G>T c.657G>T (p.Gln219His) n.1688G>T c.469-151G>T (n.469-151G>T) c.477G>T (p.Gln159His) c.846G>T (p.Gln282His) c.838G>T (p.Gly280Ter) c.669G>T (p.Gln223His) c.835G>T (p.Gly279Ter) c.666G>T (p.Gln222His) | |
11 | g.67490847G>A | CA381554796 | AIP | c.1154G>A c.658G>A (p.Glu220Lys) n.1689G>A c.469-150G>A (n.469-150G>A) c.478G>A (p.Glu160Lys) c.847G>A (p.Glu283Lys) c.839G>A (p.Gly280Glu) c.670G>A (p.Glu224Lys) c.836G>A (p.Gly279Glu) c.667G>A (p.Glu223Lys) | |
11 | g.67490847G>C | CA381554799 | AIP | c.1154G>C c.658G>C (p.Glu220Gln) n.1689G>C c.469-150G>C (n.469-150G>C) c.478G>C (p.Glu160Gln) c.847G>C (p.Glu283Gln) c.839G>C (p.Gly280Ala) c.670G>C (p.Glu224Gln) c.836G>C (p.Gly279Ala) c.667G>C (p.Glu223Gln) | COSMIC |
11 | g.67490847G>T | CA381554802 | AIP | c.1154G>T c.658G>T (p.Glu220Ter) n.1689G>T c.469-150G>T (n.469-150G>T) c.478G>T (p.Glu160Ter) c.847G>T (p.Glu283Ter) c.839G>T (p.Gly280Val) c.670G>T (p.Glu224Ter) c.836G>T (p.Gly279Val) c.667G>T (p.Glu223Ter) | |
11 | g.67490848A>C | CA381554807 | AIP | c.1155A>C c.659A>C (p.Glu220Ala) n.1690A>C c.469-149A>C (n.469-149A>C) c.479A>C (p.Glu160Ala) c.848A>C (p.Glu283Ala) c.840A>C (p.Gly280=) c.671A>C (p.Glu224Ala) c.837A>C (p.Gly279=) c.668A>C (p.Glu223Ala) | |
11 | g.67490848A>G | CA381554810 | AIP | c.1155A>G c.659A>G (p.Glu220Gly) n.1690A>G c.469-149A>G (n.469-149A>G) c.479A>G (p.Glu160Gly) c.848A>G (p.Glu283Gly) c.840A>G (p.Gly280=) c.671A>G (p.Glu224Gly) c.837A>G (p.Gly279=) c.668A>G (p.Glu223Gly) | |
11 | g.67490848A>T | CA381554819 | AIP | c.1155A>T c.659A>T (p.Glu220Val) n.1690A>T c.469-149A>T (n.469-149A>T) c.479A>T (p.Glu160Val) c.848A>T (p.Glu283Val) c.840A>T (p.Gly280=) c.671A>T (p.Glu224Val) c.837A>T (p.Gly279=) c.668A>T (p.Glu223Val) | |
11 | g.67490849G>A | CA475509521 | AIP | c.1156G>A c.660G>A (p.Glu220=) n.1691G>A c.469-148G>A (n.469-148G>A) c.480G>A (p.Glu160=) c.849G>A (p.Glu283=) c.841G>A (p.Gly281Ser) c.672G>A (p.Glu224=) c.838G>A (p.Gly280Ser) c.669G>A (p.Glu223=) | ClinVar dbSNP |
11 | g.67490849G>C | CA381554820 | AIP | c.1156G>C c.660G>C (p.Glu220Asp) n.1691G>C c.469-148G>C (n.469-148G>C) c.480G>C (p.Glu160Asp) c.849G>C (p.Glu283Asp) c.841G>C (p.Gly281Arg) c.672G>C (p.Glu224Asp) c.838G>C (p.Gly280Arg) c.669G>C (p.Glu223Asp) | |
11 | g.67490849G>T | CA381554822 | AIP | c.1156G>T c.660G>T (p.Glu220Asp) n.1691G>T c.469-148G>T (n.469-148G>T) c.480G>T (p.Glu160Asp) c.849G>T (p.Glu283Asp) c.841G>T (p.Gly281Cys) c.672G>T (p.Glu224Asp) c.838G>T (p.Gly280Cys) c.669G>T (p.Glu223Asp) | |
11 | g.67490850G>A | CA381554828 | AIP | c.1157G>A c.661G>A (p.Ala221Thr) n.1692G>A c.469-147G>A (n.469-147G>A) c.481G>A (p.Ala161Thr) c.850G>A (p.Ala284Thr) c.842G>A (p.Gly281Asp) c.673G>A (p.Ala225Thr) c.839G>A (p.Gly280Asp) c.670G>A (p.Ala224Thr) | ClinVar dbSNP gnomAD v2 |
11 | g.67490850G>C | CA381554834 | AIP | c.1157G>C c.661G>C (p.Ala221Pro) n.1692G>C c.469-147G>C (n.469-147G>C) c.481G>C (p.Ala161Pro) c.850G>C (p.Ala284Pro) c.842G>C (p.Gly281Ala) c.673G>C (p.Ala225Pro) c.839G>C (p.Gly280Ala) c.670G>C (p.Ala224Pro) | |
11 | g.67490850G= | CA1980172663 | AIP | c.1157G= c.661G= (p.Ala221=) n.1692G= c.469-147G= (n.469-147G=) c.481G= (p.Ala161=) c.850G= (p.Ala284=) c.842G= (p.Gly281=) c.673G= (p.Ala225=) c.839G= (p.Gly280=) c.670G= (p.Ala224=) | |
11 | g.67490850G>T | CA381554831 | AIP | c.1157G>T c.661G>T (p.Ala221Ser) n.1692G>T c.469-147G>T (n.469-147G>T) c.481G>T (p.Ala161Ser) c.850G>T (p.Ala284Ser) c.842G>T (p.Gly281Val) c.673G>T (p.Ala225Ser) c.839G>T (p.Gly280Val) c.670G>T (p.Ala224Ser) | |
11 | g.67490851C>A | CA381554839 | AIP | c.1158C>A c.662C>A (p.Ala221Asp) n.1693C>A c.469-146C>A (n.469-146C>A) c.482C>A (p.Ala161Asp) c.851C>A (p.Ala284Asp) c.843C>A (p.Gly281=) c.674C>A (p.Ala225Asp) c.840C>A (p.Gly280=) c.671C>A (p.Ala224Asp) | COSMIC |
11 | g.67490851C>G | CA381554842 | AIP | c.1158C>G c.662C>G (p.Ala221Gly) n.1693C>G c.469-146C>G (n.469-146C>G) c.482C>G (p.Ala161Gly) c.851C>G (p.Ala284Gly) c.843C>G (p.Gly281=) c.674C>G (p.Ala225Gly) c.840C>G (p.Gly280=) c.671C>G (p.Ala224Gly) | ClinVar dbSNP |
11 | g.67490851C>T | CA381554844 | AIP | c.1158C>T c.662C>T (p.Ala221Val) n.1693C>T c.469-146C>T (n.469-146C>T) c.482C>T (p.Ala161Val) c.851C>T (p.Ala284Val) c.843C>T (p.Gly281=) c.674C>T (p.Ala225Val) c.840C>T (p.Gly280=) c.671C>T (p.Ala224Val) | ClinVar dbSNP gnomAD v4 |
11 | g.67490852C>A | CA475509525 | AIP | c.1159C>A c.663C>A (p.Ala221=) n.1694C>A c.469-145C>A (n.469-145C>A) c.483C>A (p.Ala161=) c.852C>A (p.Ala284=) c.844C>A (p.Pro282Thr) c.675C>A (p.Ala225=) c.841C>A (p.Pro281Thr) c.672C>A (p.Ala224=) | |
11 | g.67490852C= | CA1980172664 | AIP | c.1159C= c.663C= (p.Ala221=) n.1694C= c.469-145C= (n.469-145C=) c.483C= (p.Ala161=) c.852C= (p.Ala284=) c.844C= (p.Pro282=) c.675C= (p.Ala225=) c.841C= (p.Pro281=) c.672C= (p.Ala224=) | |
11 | g.67490852C>G | CA6140991 | AIP | c.1159C>G c.663C>G (p.Ala221=) n.1694C>G c.469-145C>G (n.469-145C>G) c.483C>G (p.Ala161=) c.852C>G (p.Ala284=) c.844C>G (p.Pro282Ala) c.675C>G (p.Ala225=) c.841C>G (p.Pro281Ala) c.672C>G (p.Ala224=) | dbSNP ExAC gnomAD v4 |
11 | g.67490852C>T | CA475509526 | AIP | c.1159C>T c.663C>T (p.Ala221=) n.1694C>T c.469-145C>T (n.469-145C>T) c.483C>T (p.Ala161=) c.852C>T (p.Ala284=) c.844C>T (p.Pro282Ser) c.675C>T (p.Ala225=) c.841C>T (p.Pro281Ser) c.672C>T (p.Ala224=) | ClinVar dbSNP gnomAD v4 |
11 | g.67490852_67490856delinsCCAGG | CA1980172665 | AIP | c.1159_1163delinsCCAGG c.663_667delinsCCAGG (p.Ala221=) n.1694_1698delinsCCAGG c.469-145_469-141delinsCCAGG (n.469-145_469-141delinsCCAGG) c.483_487delinsCCAGG (p.Ala161=) c.852_856delinsCCAGG (p.Ala284=) c.844_848delinsCCAGG (p.Pro282=) c.675_679delinsCCAGG (p.Ala225=) c.841_845delinsCCAGG (p.Pro281=) c.672_676delinsCCAGG (p.Ala224=) | |
11 | g.67490853C>A | CA381554855 | AIP | c.1160C>A c.664C>A (p.Gln222Lys) n.1695C>A c.469-144C>A (n.469-144C>A) c.484C>A (p.Gln162Lys) c.853C>A (p.Gln285Lys) c.845C>A (p.Pro282Gln) c.676C>A (p.Gln226Lys) c.842C>A (p.Pro281Gln) c.673C>A (p.Gln225Lys) | |
11 | g.67490853C>G | CA381554868 | AIP | c.1160C>G c.664C>G (p.Gln222Glu) n.1695C>G c.469-144C>G (n.469-144C>G) c.484C>G (p.Gln162Glu) c.853C>G (p.Gln285Glu) c.845C>G (p.Pro282Arg) c.676C>G (p.Gln226Glu) c.842C>G (p.Pro281Arg) c.673C>G (p.Gln225Glu) | |
11 | g.67490853C>T | CA381554863 | AIP | c.1160C>T c.664C>T (p.Gln222Ter) n.1695C>T c.469-144C>T (n.469-144C>T) c.484C>T (p.Gln162Ter) c.853C>T (p.Gln285Ter) c.845C>T (p.Pro282Leu) c.676C>T (p.Gln226Ter) c.842C>T (p.Pro281Leu) c.673C>T (p.Gln225Ter) | |
11 | g.67490854_67490857del | CA344209 | AIP | c.1161_1164del c.665_668del (p.Gln222LeufsTer17) n.1696_1699del c.469-143_469-140del (n.469-143_469-140del) c.485_488del (p.Gln162LeufsTer17) c.854_857del (p.Gln285LeufsTer17) c.846_849del (p.Gly283AspfsTer?) c.677_680del (p.Gln226LeufsTer17) c.843_846del (p.Gly282AspfsTer?) c.674_677del (p.Gln225LeufsTer17) c.665_668del (p.Gln222LeufsTer?) | ClinVar dbSNP |
11 | g.67490854A>C | CA381554872 | AIP | c.1161A>C c.665A>C (p.Gln222Pro) n.1696A>C c.469-143A>C (n.469-143A>C) c.485A>C (p.Gln162Pro) c.854A>C (p.Gln285Pro) c.846A>C (p.Pro282=) c.677A>C (p.Gln226Pro) c.843A>C (p.Pro281=) c.674A>C (p.Gln225Pro) | |
11 | g.67490854A>G | CA381554874 | AIP | c.1161A>G c.665A>G (p.Gln222Arg) n.1696A>G c.469-143A>G (n.469-143A>G) c.485A>G (p.Gln162Arg) c.854A>G (p.Gln285Arg) c.846A>G (p.Pro282=) c.677A>G (p.Gln226Arg) c.843A>G (p.Pro281=) c.674A>G (p.Gln225Arg) | |
11 | g.67490854A>T | CA381554877 | AIP | c.1161A>T c.665A>T (p.Gln222Leu) n.1696A>T c.469-143A>T (n.469-143A>T) c.485A>T (p.Gln162Leu) c.854A>T (p.Gln285Leu) c.846A>T (p.Pro282=) c.677A>T (p.Gln226Leu) c.843A>T (p.Pro281=) c.674A>T (p.Gln225Leu) | |
11 | g.67490855G>A | CA475509532 | AIP | c.1162G>A c.666G>A (p.Gln222=) n.1697G>A c.469-142G>A (n.469-142G>A) c.486G>A (p.Gln162=) c.855G>A (p.Gln285=) c.847G>A (p.Gly283Ser) c.678G>A (p.Gln226=) c.844G>A (p.Gly282Ser) c.675G>A (p.Gln225=) | |
11 | g.67490855G>C | CA381554882 | AIP | c.1162G>C c.666G>C (p.Gln222His) n.1697G>C c.469-142G>C (n.469-142G>C) c.486G>C (p.Gln162His) c.855G>C (p.Gln285His) c.847G>C (p.Gly283Arg) c.678G>C (p.Gln226His) c.844G>C (p.Gly282Arg) c.675G>C (p.Gln225His) | ClinVar dbSNP |
11 | g.67490855G= | CA1980172666 | AIP | c.1162G= c.666G= (p.Gln222=) n.1697G= c.469-142G= (n.469-142G=) c.486G= (p.Gln162=) c.855G= (p.Gln285=) c.847G= (p.Gly283=) c.678G= (p.Gln226=) c.844G= (p.Gly282=) c.675G= (p.Gln225=) | |
11 | g.67490855G>T | CA381554885 | AIP | c.1162G>T c.666G>T (p.Gln222His) n.1697G>T c.469-142G>T (n.469-142G>T) c.486G>T (p.Gln162His) c.855G>T (p.Gln285His) c.847G>T (p.Gly283Cys) c.678G>T (p.Gln226His) c.844G>T (p.Gly282Cys) c.675G>T (p.Gln225His) | gnomAD v4 |
11 | g.67490856G>A | CA381554886 | AIP | c.1163G>A c.667G>A (p.Ala223Thr) n.1698G>A c.469-141G>A (n.469-141G>A) c.487G>A (p.Ala163Thr) c.856G>A (p.Ala286Thr) c.848G>A (p.Gly283Asp) c.679G>A (p.Ala227Thr) c.845G>A (p.Gly282Asp) c.676G>A (p.Ala226Thr) | ClinVar dbSNP |
11 | g.67490856G>C | CA381554887 | AIP | c.1163G>C c.667G>C (p.Ala223Pro) n.1698G>C c.469-141G>C (n.469-141G>C) c.487G>C (p.Ala163Pro) c.856G>C (p.Ala286Pro) c.848G>C (p.Gly283Ala) c.679G>C (p.Ala227Pro) c.845G>C (p.Gly282Ala) c.676G>C (p.Ala226Pro) | |
11 | g.67490856G= | CA1980172667 | AIP | c.1163G= c.667G= (p.Ala223=) n.1698G= c.469-141G= (n.469-141G=) c.487G= (p.Ala163=) c.856G= (p.Ala286=) c.848G= (p.Gly283=) c.679G= (p.Ala227=) c.845G= (p.Gly282=) c.676G= (p.Ala226=) | |
11 | g.67490856G>T | CA381554888 | AIP | c.1163G>T c.667G>T (p.Ala223Ser) n.1698G>T c.469-141G>T (n.469-141G>T) c.487G>T (p.Ala163Ser) c.856G>T (p.Ala286Ser) c.848G>T (p.Gly283Val) c.679G>T (p.Ala227Ser) c.845G>T (p.Gly282Val) c.676G>T (p.Ala226Ser) | |
11 | g.67490857C>A | CA381554891 | AIP | c.1164C>A c.668C>A (p.Ala223Asp) n.1699C>A c.469-140C>A (n.469-140C>A) c.488C>A (p.Ala163Asp) c.857C>A (p.Ala286Asp) c.849C>A (p.Gly283=) c.680C>A (p.Ala227Asp) c.846C>A (p.Gly282=) c.677C>A (p.Ala226Asp) | dbSNP |
11 | g.67490857C= | CA1980172668 | AIP | c.1164C= c.668C= (p.Ala223=) n.1699C= c.469-140C= (n.469-140C=) c.488C= (p.Ala163=) c.857C= (p.Ala286=) c.849C= (p.Gly283=) c.680C= (p.Ala227=) c.846C= (p.Gly282=) c.677C= (p.Ala226=) | |
11 | g.67490857C>G | CA381554893 | AIP | c.1164C>G c.668C>G (p.Ala223Gly) n.1699C>G c.469-140C>G (n.469-140C>G) c.488C>G (p.Ala163Gly) c.857C>G (p.Ala286Gly) c.849C>G (p.Gly283=) c.680C>G (p.Ala227Gly) c.846C>G (p.Gly282=) c.677C>G (p.Ala226Gly) | |
11 | g.67490857C>T | CA6140992 | AIP | c.1164C>T c.668C>T (p.Ala223Val) n.1699C>T c.469-140C>T (n.469-140C>T) c.488C>T (p.Ala163Val) c.857C>T (p.Ala286Val) c.849C>T (p.Gly283=) c.680C>T (p.Ala227Val) c.846C>T (p.Gly282=) c.677C>T (p.Ala226Val) | ClinVar dbSNP ExAC gnomAD v4 |
11 | g.67490858T>A | CA475509538 | AIP | c.1165T>A c.669T>A (p.Ala223=) n.1700T>A c.469-139T>A (n.469-139T>A) c.489T>A (p.Ala163=) c.858T>A (p.Ala286=) c.850T>A (p.Ter284Arg) c.681T>A (p.Ala227=) c.847T>A (p.Ter283Arg) c.678T>A (p.Ala226=) | |
11 | g.67490858T>C | CA475509537 | AIP | c.1165T>C c.669T>C (p.Ala223=) n.1700T>C c.469-139T>C (n.469-139T>C) c.489T>C (p.Ala163=) c.858T>C (p.Ala286=) c.850T>C (p.Ter284Arg) c.681T>C (p.Ala227=) c.847T>C (p.Ter283Arg) c.678T>C (p.Ala226=) | ClinVar dbSNP |
11 | g.67490858T>G | CA475509535 | AIP | c.1165T>G c.669T>G (p.Ala223=) n.1700T>G c.469-139T>G (n.469-139T>G) c.489T>G (p.Ala163=) c.858T>G (p.Ala286=) c.850T>G (p.Ter284Gly) c.681T>G (p.Ala227=) c.847T>G (p.Ter283Gly) c.678T>G (p.Ala226=) | |
11 | g.67490858T= | CA1980172669 | AIP | c.1165T= c.669T= (p.Ala223=) n.1700T= c.469-139T= (n.469-139T=) c.489T= (p.Ala163=) c.858T= (p.Ala286=) c.850T= (p.Ter284=) c.681T= (p.Ala227=) c.847T= (p.Ter283=) c.678T= (p.Ala226=) | |
11 | g.67490859G>A | CA381554905 | AIP | c.1166G>A c.670G>A (p.Asp224Asn) n.1701G>A c.469-138G>A (n.469-138G>A) c.490G>A (p.Asp164Asn) c.859G>A (p.Asp287Asn) c.851G>A (p.Ter284=) c.682G>A (p.Asp228Asn) c.848G>A (p.Ter283=) c.679G>A (p.Asp227Asn) | |
11 | g.67490859G>C | CA381554906 | AIP | c.1166G>C c.670G>C (p.Asp224His) n.1701G>C c.469-138G>C (n.469-138G>C) c.490G>C (p.Asp164His) c.859G>C (p.Asp287His) c.851G>C (p.Ter284Ser) c.682G>C (p.Asp228His) c.848G>C (p.Ter283Ser) c.679G>C (p.Asp227His) | |
11 | g.67490859G>T | CA381554902 | AIP | c.1166G>T c.670G>T (p.Asp224Tyr) n.1701G>T c.469-138G>T (n.469-138G>T) c.490G>T (p.Asp164Tyr) c.859G>T (p.Asp287Tyr) c.851G>T (p.Ter284Leu) c.682G>T (p.Asp228Tyr) c.848G>T (p.Ter283Leu) c.679G>T (p.Asp227Tyr) | |
11 | g.67490860A>C | CA381554911 | AIP | c.1167A>C c.671A>C (p.Asp224Ala) n.1702A>C c.469-137A>C (n.469-137A>C) c.491A>C (p.Asp164Ala) c.860A>C (p.Asp287Ala) c.852A>C (p.Ter284Cys) c.683A>C (p.Asp228Ala) c.849A>C (p.Ter283Cys) c.680A>C (p.Asp227Ala) | |
11 | g.67490860A>G | CA381554915 | AIP | c.1167A>G c.671A>G (p.Asp224Gly) n.1702A>G c.469-137A>G (n.469-137A>G) c.491A>G (p.Asp164Gly) c.860A>G (p.Asp287Gly) c.852A>G (p.Ter284Trp) c.683A>G (p.Asp228Gly) c.849A>G (p.Ter283Trp) c.680A>G (p.Asp227Gly) | |
11 | g.67490860A>T | CA381554919 | AIP | c.1167A>T c.671A>T (p.Asp224Val) n.1702A>T c.469-137A>T (n.469-137A>T) c.491A>T (p.Asp164Val) c.860A>T (p.Asp287Val) c.852A>T (p.Ter284Cys) c.683A>T (p.Asp228Val) c.849A>T (p.Ter283Cys) c.680A>T (p.Asp227Val) | |
11 | g.67490861C>A | CA381554923 | AIP | c.1168C>A c.672C>A (p.Asp224Glu) n.1703C>A c.469-136C>A (n.469-136C>A) c.492C>A (p.Asp164Glu) c.861C>A (p.Asp287Glu) c.*1C>A (n.*1C>A) c.684C>A (p.Asp228Glu) c.681C>A (p.Asp227Glu) | |
11 | g.67490861C>G | CA381554927 | AIP | c.1168C>G c.672C>G (p.Asp224Glu) n.1703C>G c.469-136C>G (n.469-136C>G) c.492C>G (p.Asp164Glu) c.861C>G (p.Asp287Glu) c.*1C>G (n.*1C>G) c.684C>G (p.Asp228Glu) c.681C>G (p.Asp227Glu) | |
11 | g.67490861C>T | CA475509540 | AIP | c.1168C>T c.672C>T (p.Asp224=) n.1703C>T c.469-136C>T (n.469-136C>T) c.492C>T (p.Asp164=) c.861C>T (p.Asp287=) c.*1C>T (n.*1C>T) c.684C>T (p.Asp228=) c.681C>T (p.Asp227=) | |
11 | g.67490862T>A | CA381554931 | AIP | c.1169T>A c.673T>A (p.Phe225Ile) n.1704T>A c.469-135T>A (n.469-135T>A) c.493T>A (p.Phe165Ile) c.862T>A (p.Phe288Ile) c.*2T>A (n.*2T>A) c.685T>A (p.Phe229Ile) c.682T>A (p.Phe228Ile) | dbSNP |
11 | g.67490862T>C | CA381554935 | AIP | c.1169T>C c.673T>C (p.Phe225Leu) n.1704T>C c.469-135T>C (n.469-135T>C) c.493T>C (p.Phe165Leu) c.862T>C (p.Phe288Leu) c.*2T>C (n.*2T>C) c.685T>C (p.Phe229Leu) c.682T>C (p.Phe228Leu) | |
11 | g.67490862T>G | CA381554938 | AIP | c.1169T>G c.673T>G (p.Phe225Val) n.1704T>G c.469-135T>G (n.469-135T>G) c.493T>G (p.Phe165Val) c.862T>G (p.Phe288Val) c.*2T>G (n.*2T>G) c.685T>G (p.Phe229Val) c.682T>G (p.Phe228Val) | |
11 | g.67490862T= | CA1980172670 | AIP | c.1169T= c.673T= (p.Phe225=) n.1704T= c.469-135T= (n.469-135T=) c.493T= (p.Phe165=) c.862T= (p.Phe288=) c.*2T= (n.*2T=) c.685T= (p.Phe229=) c.682T= (p.Phe228=) | |
11 | g.67490863_67490864del | CA2614626118 | AIP | c.1170_1171del c.674_675del (p.Phe225CysfsTer?) n.1705_1706del c.469-134_469-133del (n.469-134_469-133del) c.494_495del (p.Phe165CysfsTer?) c.863_864del (p.Phe288CysfsTer?) c.*3_*4del (n.*3_*4del) c.686_687del (p.Phe229CysfsTer?) c.683_684del (p.Phe228CysfsTer?) | gnomAD v4 |
11 | g.67490863T>A | CA381554945 | AIP | c.1170T>A c.674T>A (p.Phe225Tyr) n.1705T>A c.469-134T>A (n.469-134T>A) c.494T>A (p.Phe165Tyr) c.863T>A (p.Phe288Tyr) c.*3T>A (n.*3T>A) c.686T>A (p.Phe229Tyr) c.683T>A (p.Phe228Tyr) | |
11 | g.67490863T>C | CA381554949 | AIP | c.1170T>C c.674T>C (p.Phe225Ser) n.1705T>C c.469-134T>C (n.469-134T>C) c.494T>C (p.Phe165Ser) c.863T>C (p.Phe288Ser) c.*3T>C (n.*3T>C) c.686T>C (p.Phe229Ser) c.683T>C (p.Phe228Ser) | |
11 | g.67490863T>G | CA381554947 | AIP | c.1170T>G c.674T>G (p.Phe225Cys) n.1705T>G c.469-134T>G (n.469-134T>G) c.494T>G (p.Phe165Cys) c.863T>G (p.Phe288Cys) c.*3T>G (n.*3T>G) c.686T>G (p.Phe229Cys) c.683T>G (p.Phe228Cys) | |
11 | g.67490864T>A | CA381554957 | AIP | c.1171T>A c.675T>A (p.Phe225Leu) n.1706T>A c.469-133T>A (n.469-133T>A) c.495T>A (p.Phe165Leu) c.864T>A (p.Phe288Leu) c.*4T>A (n.*4T>A) c.687T>A (p.Phe229Leu) c.684T>A (p.Phe228Leu) | |
11 | g.67490864T>C | CA475509544 | AIP | c.1171T>C c.675T>C (p.Phe225=) n.1706T>C c.469-133T>C (n.469-133T>C) c.495T>C (p.Phe165=) c.864T>C (p.Phe288=) c.*4T>C (n.*4T>C) c.687T>C (p.Phe229=) c.684T>C (p.Phe228=) | ClinVar gnomAD v4 |
11 | g.67490864T>G | CA381554959 | AIP | c.1171T>G c.675T>G (p.Phe225Leu) n.1706T>G c.469-133T>G (n.469-133T>G) c.495T>G (p.Phe165Leu) c.864T>G (p.Phe288Leu) c.*4T>G (n.*4T>G) c.687T>G (p.Phe229Leu) c.684T>G (p.Phe228Leu) | |
11 | g.67490865G>A | CA381554966 | AIP | c.1172G>A c.676G>A (p.Ala226Thr) n.1707G>A c.469-132G>A (n.469-132G>A) c.496G>A (p.Ala166Thr) c.865G>A (p.Ala289Thr) c.*5G>A (n.*5G>A) c.688G>A (p.Ala230Thr) c.685G>A (p.Ala229Thr) | ClinVar dbSNP |
11 | g.67490865G>C | CA381554970 | AIP | c.1172G>C c.676G>C (p.Ala226Pro) n.1707G>C c.469-132G>C (n.469-132G>C) c.496G>C (p.Ala166Pro) c.865G>C (p.Ala289Pro) c.*5G>C (n.*5G>C) c.688G>C (p.Ala230Pro) c.685G>C (p.Ala229Pro) | |
11 | g.67490865G= | CA1980172671 | AIP | c.1172G= c.676G= (p.Ala226=) n.1707G= c.469-132G= (n.469-132G=) c.496G= (p.Ala166=) c.865G= (p.Ala289=) c.*5G= (n.*5G=) c.688G= (p.Ala230=) c.685G= (p.Ala229=) | |
11 | g.67490865G>T | CA381554974 | AIP | c.1172G>T c.676G>T (p.Ala226Ser) n.1707G>T c.469-132G>T (n.469-132G>T) c.496G>T (p.Ala166Ser) c.865G>T (p.Ala289Ser) c.*5G>T (n.*5G>T) c.688G>T (p.Ala230Ser) c.685G>T (p.Ala229Ser) | |
11 | g.67490866C>A | CA381554981 | AIP | c.1173C>A c.677C>A (p.Ala226Asp) n.1708C>A c.469-131C>A (n.469-131C>A) c.497C>A (p.Ala166Asp) c.866C>A (p.Ala289Asp) c.*6C>A (n.*6C>A) c.689C>A (p.Ala230Asp) c.686C>A (p.Ala229Asp) | |
11 | g.67490866C= | CA1980172672 | AIP | c.1173C= c.677C= (p.Ala226=) n.1708C= c.469-131C= (n.469-131C=) c.497C= (p.Ala166=) c.866C= (p.Ala289=) c.*6C= (n.*6C=) c.689C= (p.Ala230=) c.686C= (p.Ala229=) | |
11 | g.67490866C>G | CA381554988 | AIP | c.1173C>G c.677C>G (p.Ala226Gly) n.1708C>G c.469-131C>G (n.469-131C>G) c.497C>G (p.Ala166Gly) c.866C>G (p.Ala289Gly) c.*6C>G (n.*6C>G) c.689C>G (p.Ala230Gly) c.686C>G (p.Ala229Gly) | |
11 | g.67490866C>T | CA381554985 | AIP | c.1173C>T c.677C>T (p.Ala226Val) n.1708C>T c.469-131C>T (n.469-131C>T) c.497C>T (p.Ala166Val) c.866C>T (p.Ala289Val) c.*6C>T (n.*6C>T) c.689C>T (p.Ala230Val) c.686C>T (p.Ala229Val) | ClinVar dbSNP |
11 | g.67490867C>A | CA6140993 | AIP | c.1174C>A c.678C>A (p.Ala226=) n.1709C>A c.469-130C>A (n.469-130C>A) c.498C>A (p.Ala166=) c.867C>A (p.Ala289=) c.*7C>A (n.*7C>A) c.690C>A (p.Ala230=) c.687C>A (p.Ala229=) | dbSNP ExAC gnomAD v2 |
11 | g.67490867C= | CA1980172673 | AIP | c.1174C= c.678C= (p.Ala226=) n.1709C= c.469-130C= (n.469-130C=) c.498C= (p.Ala166=) c.867C= (p.Ala289=) c.*7C= (n.*7C=) c.690C= (p.Ala230=) c.687C= (p.Ala229=) | |
11 | g.67490867C>G | CA475509549 | AIP | c.1174C>G c.678C>G (p.Ala226=) n.1709C>G c.469-130C>G (n.469-130C>G) c.498C>G (p.Ala166=) c.867C>G (p.Ala289=) c.*7C>G (n.*7C>G) c.690C>G (p.Ala230=) c.687C>G (p.Ala229=) | |
11 | g.67490867C>T | CA475509551 | AIP | c.1174C>T c.678C>T (p.Ala226=) n.1709C>T c.469-130C>T (n.469-130C>T) c.498C>T (p.Ala166=) c.867C>T (p.Ala289=) c.*7C>T (n.*7C>T) c.690C>T (p.Ala230=) c.687C>T (p.Ala229=) | ClinVar gnomAD v4 |
11 | g.67490868A= | CA1980172674 | AIP | c.1175A= c.679A= (p.Lys227=) n.1710A= c.469-129A= (n.469-129A=) c.499A= (p.Lys167=) c.868A= (p.Lys290=) c.*8A= (n.*8A=) c.691A= (p.Lys231=) c.688A= (p.Lys230=) | |
11 | g.67490868A>C | CA381554997 | AIP | c.1175A>C c.679A>C (p.Lys227Gln) n.1710A>C c.469-129A>C (n.469-129A>C) c.499A>C (p.Lys167Gln) c.868A>C (p.Lys290Gln) c.*8A>C (n.*8A>C) c.691A>C (p.Lys231Gln) c.688A>C (p.Lys230Gln) | |
11 | g.67490868A>G | CA381555000 | AIP | c.1175A>G c.679A>G (p.Lys227Glu) n.1710A>G c.469-129A>G (n.469-129A>G) c.499A>G (p.Lys167Glu) c.868A>G (p.Lys290Glu) c.*8A>G (n.*8A>G) c.691A>G (p.Lys231Glu) c.688A>G (p.Lys230Glu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.67490868A>T | CA381555002 | AIP | c.1175A>T c.679A>T (p.Lys227Ter) n.1710A>T c.469-129A>T (n.469-129A>T) c.499A>T (p.Lys167Ter) c.868A>T (p.Lys290Ter) c.*8A>T (n.*8A>T) c.691A>T (p.Lys231Ter) c.688A>T (p.Lys230Ter) | |
11 | g.67490869A>C | CA381555004 | AIP | c.1176A>C c.680A>C (p.Lys227Thr) n.1711A>C c.469-128A>C (n.469-128A>C) c.500A>C (p.Lys167Thr) c.869A>C (p.Lys290Thr) c.*9A>C (n.*9A>C) c.692A>C (p.Lys231Thr) c.689A>C (p.Lys230Thr) | |
11 | g.67490869A>G | CA381555007 | AIP | c.1176A>G c.680A>G (p.Lys227Arg) n.1711A>G c.469-128A>G (n.469-128A>G) c.500A>G (p.Lys167Arg) c.869A>G (p.Lys290Arg) c.*9A>G (n.*9A>G) c.692A>G (p.Lys231Arg) c.689A>G (p.Lys230Arg) | ClinVar |
11 | g.67490869A>T | CA381555010 | AIP | c.1176A>T c.680A>T (p.Lys227Ile) n.1711A>T c.469-128A>T (n.469-128A>T) c.500A>T (p.Lys167Ile) c.869A>T (p.Lys290Ile) c.*9A>T (n.*9A>T) c.692A>T (p.Lys231Ile) c.689A>T (p.Lys230Ile) | |
11 | g.67490870A>C | CA381555014 | AIP | c.1177A>C c.681A>C (p.Lys227Asn) n.1712A>C c.469-127A>C (n.469-127A>C) c.501A>C (p.Lys167Asn) c.870A>C (p.Lys290Asn) c.*10A>C (n.*10A>C) c.693A>C (p.Lys231Asn) c.690A>C (p.Lys230Asn) | |
11 | g.67490870A>G | CA475509553 | AIP | c.1177A>G c.681A>G (p.Lys227=) n.1712A>G c.469-127A>G (n.469-127A>G) c.501A>G (p.Lys167=) c.870A>G (p.Lys290=) c.*10A>G (n.*10A>G) c.693A>G (p.Lys231=) c.690A>G (p.Lys230=) | gnomAD v3 gnomAD v4 |
11 | g.67490870A>T | CA381555016 | AIP | c.1177A>T c.681A>T (p.Lys227Asn) n.1712A>T c.469-127A>T (n.469-127A>T) c.501A>T (p.Lys167Asn) c.870A>T (p.Lys290Asn) c.*10A>T (n.*10A>T) c.693A>T (p.Lys231Asn) c.690A>T (p.Lys230Asn) | |
11 | g.67490871G>A | CA381555021 | AIP | c.1178G>A c.682G>A (p.Val228Met) n.1713G>A c.469-126G>A (n.469-126G>A) c.502G>A (p.Val168Met) c.871G>A (p.Val291Met) c.*11G>A (n.*11G>A) c.694G>A (p.Val232Met) c.691G>A (p.Val231Met) | |
11 | g.67490871G>C | CA381555026 | AIP | c.1178G>C c.682G>C (p.Val228Leu) n.1713G>C c.469-126G>C (n.469-126G>C) c.502G>C (p.Val168Leu) c.871G>C (p.Val291Leu) c.*11G>C (n.*11G>C) c.694G>C (p.Val232Leu) c.691G>C (p.Val231Leu) | |
11 | g.67490871G>T | CA381555030 | AIP | c.1178G>T c.682G>T (p.Val228Leu) n.1713G>T c.469-126G>T (n.469-126G>T) c.502G>T (p.Val168Leu) c.871G>T (p.Val291Leu) c.*11G>T (n.*11G>T) c.694G>T (p.Val232Leu) c.691G>T (p.Val231Leu) | |
11 | g.67490872_67490877del | CA2574896311 | AIP | c.1179_1184del c.683_688del (p.Val228_Leu229del) n.1714_1719del c.469-125_469-120del (n.469-125_469-120del) c.503_508del (p.Val168_Leu169del) c.872_877del (p.Val291_Leu292del) c.*12_*17del (n.*12_*17del) c.695_700del (p.Val232_Leu233del) c.692_697del (p.Val231_Leu232del) | |
11 | g.67490872T>A | CA381555035 | AIP | c.1179T>A c.683T>A (p.Val228Glu) n.1714T>A c.469-125T>A (n.469-125T>A) c.503T>A (p.Val168Glu) c.872T>A (p.Val291Glu) c.*12T>A (n.*12T>A) c.695T>A (p.Val232Glu) c.692T>A (p.Val231Glu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.67490872T>C | CA381555042 | AIP | c.1179T>C c.683T>C (p.Val228Ala) n.1714T>C c.469-125T>C (n.469-125T>C) c.503T>C (p.Val168Ala) c.872T>C (p.Val291Ala) c.*12T>C (n.*12T>C) c.695T>C (p.Val232Ala) c.692T>C (p.Val231Ala) | |
11 | g.67490872T>G | CA381555039 | AIP | c.1179T>G c.683T>G (p.Val228Gly) n.1714T>G c.469-125T>G (n.469-125T>G) c.503T>G (p.Val168Gly) c.872T>G (p.Val291Gly) c.*12T>G (n.*12T>G) c.695T>G (p.Val232Gly) c.692T>G (p.Val231Gly) | |
11 | g.67490872T= | CA1980172675 | AIP | c.1179T= c.683T= (p.Val228=) n.1714T= c.469-125T= (n.469-125T=) c.503T= (p.Val168=) c.872T= (p.Val291=) c.*12T= (n.*12T=) c.695T= (p.Val232=) c.692T= (p.Val231=) | |
11 | g.67490873G>A | CA475509555 | AIP | c.1180G>A c.684G>A (p.Val228=) n.1715G>A c.469-124G>A (n.469-124G>A) c.504G>A (p.Val168=) c.873G>A (p.Val291=) c.*13G>A (n.*13G>A) c.696G>A (p.Val232=) c.693G>A (p.Val231=) | |
11 | g.67490873G>C | CA475509556 | AIP | c.1180G>C c.684G>C (p.Val228=) n.1715G>C c.469-124G>C (n.469-124G>C) c.504G>C (p.Val168=) c.873G>C (p.Val291=) c.*13G>C (n.*13G>C) c.696G>C (p.Val232=) c.693G>C (p.Val231=) | |
11 | g.67490873G>T | CA475509558 | AIP | c.1180G>T c.684G>T (p.Val228=) n.1715G>T c.469-124G>T (n.469-124G>T) c.504G>T (p.Val168=) c.873G>T (p.Val291=) c.*13G>T (n.*13G>T) c.696G>T (p.Val232=) c.693G>T (p.Val231=) | |
11 | g.67490874del | CA2697548772 | AIP | c.1181del c.685del (p.Leu229TrpfsTer11) n.1716del c.469-123del (n.469-123del) c.505del (p.Leu169TrpfsTer11) c.874del (p.Leu292TrpfsTer11) c.*14del (n.*14del) c.697del (p.Leu233TrpfsTer11) c.694del (p.Leu232TrpfsTer11) c.685del (p.Leu229TrpfsTer?) | ClinVar |
11 | g.67490874C>A | CA381555046 | AIP | c.1181C>A c.685C>A (p.Leu229Met) n.1716C>A c.469-123C>A (n.469-123C>A) c.505C>A (p.Leu169Met) c.874C>A (p.Leu292Met) c.*14C>A (n.*14C>A) c.697C>A (p.Leu233Met) c.694C>A (p.Leu232Met) | |
11 | g.67490874C= | CA1980172676 | AIP | c.1181C= c.685C= (p.Leu229=) n.1716C= c.469-123C= (n.469-123C=) c.505C= (p.Leu169=) c.874C= (p.Leu292=) c.*14C= (n.*14C=) c.697C= (p.Leu233=) c.694C= (p.Leu232=) | |
11 | g.67490874C>G | CA6140994 | AIP | c.1181C>G c.685C>G (p.Leu229Val) n.1716C>G c.469-123C>G (n.469-123C>G) c.505C>G (p.Leu169Val) c.874C>G (p.Leu292Val) c.*14C>G (n.*14C>G) c.697C>G (p.Leu233Val) c.694C>G (p.Leu232Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.67490874C>T | CA475509561 | AIP | c.1181C>T c.685C>T (p.Leu229=) n.1716C>T c.469-123C>T (n.469-123C>T) c.505C>T (p.Leu169=) c.874C>T (p.Leu292=) c.*14C>T (n.*14C>T) c.697C>T (p.Leu233=) c.694C>T (p.Leu232=) | |
11 | g.67490875T>A | CA381555054 | AIP | c.1182T>A c.686T>A (p.Leu229Gln) n.1717T>A c.469-122T>A (n.469-122T>A) c.506T>A (p.Leu169Gln) c.875T>A (p.Leu292Gln) c.*15T>A (n.*15T>A) c.698T>A (p.Leu233Gln) c.695T>A (p.Leu232Gln) | |
11 | g.67490875T>C | CA381555056 | AIP | c.1182T>C c.686T>C (p.Leu229Pro) n.1717T>C c.469-122T>C (n.469-122T>C) c.506T>C (p.Leu169Pro) c.875T>C (p.Leu292Pro) c.*15T>C (n.*15T>C) c.698T>C (p.Leu233Pro) c.695T>C (p.Leu232Pro) | |
11 | g.67490875T>G | CA381555060 | AIP | c.1182T>G c.686T>G (p.Leu229Arg) n.1717T>G c.469-122T>G (n.469-122T>G) c.506T>G (p.Leu169Arg) c.875T>G (p.Leu292Arg) c.*15T>G (n.*15T>G) c.698T>G (p.Leu233Arg) c.695T>G (p.Leu232Arg) | |
11 | g.67490876G>A | CA475509562 | AIP | c.1183G>A c.687G>A (p.Leu229=) n.1718G>A c.469-121G>A (n.469-121G>A) c.507G>A (p.Leu169=) c.876G>A (p.Leu292=) c.*16G>A (n.*16G>A) c.699G>A (p.Leu233=) c.696G>A (p.Leu232=) | |
11 | g.67490876G>C | CA475509563 | AIP | c.1183G>C c.687G>C (p.Leu229=) n.1718G>C c.469-121G>C (n.469-121G>C) c.507G>C (p.Leu169=) c.876G>C (p.Leu292=) c.*16G>C (n.*16G>C) c.699G>C (p.Leu233=) c.696G>C (p.Leu232=) | |
11 | g.67490876G>T | CA475509565 | AIP | c.1183G>T c.687G>T (p.Leu229=) n.1718G>T c.469-121G>T (n.469-121G>T) c.507G>T (p.Leu169=) c.876G>T (p.Leu292=) c.*16G>T (n.*16G>T) c.699G>T (p.Leu233=) c.696G>T (p.Leu232=) | |
11 | g.67490877G>A | CA381555070 | AIP | c.1184G>A c.688G>A (p.Glu230Lys) n.1719G>A c.469-120G>A (n.469-120G>A) c.508G>A (p.Glu170Lys) c.877G>A (p.Glu293Lys) c.*17G>A (n.*17G>A) c.700G>A (p.Glu234Lys) c.697G>A (p.Glu233Lys) | |
11 | g.67490877G>C | CA381555068 | AIP | c.1184G>C c.688G>C (p.Glu230Gln) n.1719G>C c.469-120G>C (n.469-120G>C) c.508G>C (p.Glu170Gln) c.877G>C (p.Glu293Gln) c.*17G>C (n.*17G>C) c.700G>C (p.Glu234Gln) c.697G>C (p.Glu233Gln) | |
11 | g.67490877G>T | CA381555065 | AIP | c.1184G>T c.688G>T (p.Glu230Ter) n.1719G>T c.469-120G>T (n.469-120G>T) c.508G>T (p.Glu170Ter) c.877G>T (p.Glu293Ter) c.*17G>T (n.*17G>T) c.700G>T (p.Glu234Ter) c.697G>T (p.Glu233Ter) | |
11 | g.67490878A>C | CA381555079 | AIP | c.1185A>C c.689A>C (p.Glu230Ala) n.1720A>C c.469-119A>C (n.469-119A>C) c.509A>C (p.Glu170Ala) c.878A>C (p.Glu293Ala) c.*18A>C (n.*18A>C) c.701A>C (p.Glu234Ala) c.698A>C (p.Glu233Ala) | |
11 | g.67490878A>G | CA381555082 | AIP | c.1185A>G c.689A>G (p.Glu230Gly) n.1720A>G c.469-119A>G (n.469-119A>G) c.509A>G (p.Glu170Gly) c.878A>G (p.Glu293Gly) c.*18A>G (n.*18A>G) c.701A>G (p.Glu234Gly) c.698A>G (p.Glu233Gly) | |
11 | g.67490878A>T | CA381555087 | AIP | c.1185A>T c.689A>T (p.Glu230Val) n.1720A>T c.469-119A>T (n.469-119A>T) c.509A>T (p.Glu170Val) c.878A>T (p.Glu293Val) c.*18A>T (n.*18A>T) c.701A>T (p.Glu234Val) c.698A>T (p.Glu233Val) | |
11 | g.67490878_67490879delinsAG | CA1980172677 | AIP | c.1185_1186delinsAG c.689_690delinsAG (p.Glu230=) n.1720_1721delinsAG c.469-119_469-118delinsAG (n.469-119_469-118delinsAG) c.509_510delinsAG (p.Glu170=) c.878_879delinsAG (p.Glu293=) c.*18_*19delinsAG (n.*18_*19delinsAG) c.701_702delinsAG (p.Glu234=) c.698_699delinsAG (p.Glu233=) | |
11 | g.67490878_67490879delinsGT | CA356563 | AIP | c.1185_1186delinsGT c.689_690delinsGT (p.Glu230Gly) n.1720_1721delinsGT c.469-119_469-118delinsGT (n.469-119_469-118delinsGT) c.509_510delinsGT (p.Glu170Gly) c.878_879delinsGT (p.Glu293Gly) c.*18_*19delinsGT (n.*18_*19delinsGT) c.701_702delinsGT (p.Glu234Gly) c.698_699delinsGT (p.Glu233Gly) | dbSNP |
11 | g.67490878_67490891delinsGT | CA2695214808 | AIP | c.1185_1198delinsGT c.689_702delinsGT (p.Glu230_Ala234delinsGly) n.1720_1733delinsGT c.469-119_469-106delinsGT (n.469-119_469-106delinsGT) c.509_522delinsGT (p.Glu170_Ala174delinsGly) c.878_891delinsGT (p.Glu293_Ala297delinsGly) c.*18_*31delinsGT (n.*18_*31delinsGT) c.701_714delinsGT (p.Glu234_Ala238delinsGly) c.698_711delinsGT (p.Glu233_Ala237delinsGly) | |
11 | g.67490879G>A | CA475509571 | AIP | c.1186G>A c.690G>A (p.Glu230=) n.1721G>A c.469-118G>A (n.469-118G>A) c.510G>A (p.Glu170=) c.879G>A (p.Glu293=) c.*19G>A (n.*19G>A) c.702G>A (p.Glu234=) c.699G>A (p.Glu233=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.67490879G>C | CA381555095 | AIP | c.1186G>C c.690G>C (p.Glu230Asp) n.1721G>C c.469-118G>C (n.469-118G>C) c.510G>C (p.Glu170Asp) c.879G>C (p.Glu293Asp) c.*19G>C (n.*19G>C) c.702G>C (p.Glu234Asp) c.699G>C (p.Glu233Asp) | |
11 | g.67490879G= | CA1980172678 | AIP | c.1186G= c.690G= (p.Glu230=) n.1721G= c.469-118G= (n.469-118G=) c.510G= (p.Glu170=) c.879G= (p.Glu293=) c.*19G= (n.*19G=) c.702G= (p.Glu234=) c.699G= (p.Glu233=) | |
11 | g.67490879G>T | CA381555100 | AIP | c.1186G>T c.690G>T (p.Glu230Asp) n.1721G>T c.469-118G>T (n.469-118G>T) c.510G>T (p.Glu170Asp) c.879G>T (p.Glu293Asp) c.*19G>T (n.*19G>T) c.702G>T (p.Glu234Asp) c.699G>T (p.Glu233Asp) | ClinVar |
11 | g.67490879_67490891delinsGCTGGACCCAGCC | CA1980172679 | AIP | c.1186_1198delinsGCTGGACCCAGCC c.690_702delinsGCTGGACCCAGCC (p.Glu230=) n.1721_1733delinsGCTGGACCCAGCC c.469-118_469-106delinsGCTGGACCCAGCC (n.469-118_469-106delinsGCTGGACCCAGCC) c.510_522delinsGCTGGACCCAGCC (p.Glu170=) c.879_891delinsGCTGGACCCAGCC (p.Glu293=) c.*19_*31delinsGCTGGACCCAGCC (n.*19_*31delinsGCTGGACCCAGCC) c.702_714delinsGCTGGACCCAGCC (p.Glu234=) c.699_711delinsGCTGGACCCAGCC (p.Glu233=) |