| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.149482940_149483166del | CA2695236488 | IDS | c.1234_1460del (p.Gly412HisfsTer11) c.601_827del (p.Gly201HisfsTer11) c.964_1190del (p.Gly322HisfsTer11) | |
| X | g.149483165C>A | CA414518526 | IDS | c.1234G>T (p.Gly412Ter) c.601G>T (p.Gly201Ter) n.341G>T c.964G>T (p.Gly322Ter) | ClinVar dbSNP |
| X | g.149483165C= | CA2465004076 | IDS | c.1234G= (p.Gly412=) c.601G= (p.Gly201=) n.341G= c.964G= (p.Gly322=) | |
| X | g.149483165C>G | CA414518527 | IDS | c.1234G>C (p.Gly412Arg) c.601G>C (p.Gly201Arg) n.341G>C c.964G>C (p.Gly322Arg) | |
| X | g.149483165C>T | CA414518525 | IDS | c.1234G>A (p.Gly412Arg) c.601G>A (p.Gly201Arg) n.341G>A c.964G>A (p.Gly322Arg) | |
| X | g.149483166A>C | CA519174202 | IDS | c.1233T>G (p.Ala411=) c.600T>G (p.Ala200=) n.340T>G c.963T>G (p.Ala321=) | |
| X | g.149483166A>G | CA519174203 | IDS | c.1233T>C (p.Ala411=) c.600T>C (p.Ala200=) n.340T>C c.963T>C (p.Ala321=) | gnomAD v4 |
| X | g.149483166A>T | CA519174204 | IDS | c.1233T>A (p.Ala411=) c.600T>A (p.Ala200=) n.340T>A c.963T>A (p.Ala321=) | |
| X | g.149483167G>A | CA414518528 | IDS | c.1232C>T (p.Ala411Val) c.599C>T (p.Ala200Val) n.339C>T c.962C>T (p.Ala321Val) | |
| X | g.149483167G>C | CA414518529 | IDS | c.1232C>G (p.Ala411Gly) c.599C>G (p.Ala200Gly) n.339C>G c.962C>G (p.Ala321Gly) | |
| X | g.149483167G>T | CA414518530 | IDS | c.1232C>A (p.Ala411Asp) c.599C>A (p.Ala200Asp) n.339C>A c.962C>A (p.Ala321Asp) | gnomAD v4 |
| X | g.149483168C>A | CA414518531 | IDS | c.1231G>T (p.Ala411Ser) c.598G>T (p.Ala200Ser) n.338G>T c.961G>T (p.Ala321Ser) | |
| X | g.149483168C>G | CA414518532 | IDS | c.1231G>C (p.Ala411Pro) c.598G>C (p.Ala200Pro) n.338G>C c.961G>C (p.Ala321Pro) | |
| X | g.149483168C>T | CA414518533 | IDS | c.1231G>A (p.Ala411Thr) c.598G>A (p.Ala200Thr) n.338G>A c.961G>A (p.Ala321Thr) | |
| X | g.149483169C>A | CA519174209 | IDS | c.1230G>T (p.Leu410=) c.597G>T (p.Leu199=) n.337G>T c.960G>T (p.Leu320=) | |
| X | g.149483169C>G | CA519174207 | IDS | c.1230G>C (p.Leu410=) c.597G>C (p.Leu199=) n.337G>C c.960G>C (p.Leu320=) | |
| X | g.149483169C>T | CA519174208 | IDS | c.1230G>A (p.Leu410=) c.597G>A (p.Leu199=) n.337G>A c.960G>A (p.Leu320=) | |
| X | g.149483170A>C | CA414518536 | IDS | c.1229T>G (p.Leu410Arg) c.596T>G (p.Leu199Arg) n.336T>G c.959T>G (p.Leu320Arg) | |
| X | g.149483170A>G | CA414518534 | IDS | c.1229T>C (p.Leu410Pro) c.596T>C (p.Leu199Pro) n.336T>C c.959T>C (p.Leu320Pro) | |
| X | g.149483170A>T | CA414518535 | IDS | c.1229T>A (p.Leu410Gln) c.596T>A (p.Leu199Gln) n.336T>A c.959T>A (p.Leu320Gln) | |
| X | g.149483170dup | CA2695236537 | IDS | c.1229dup (p.Ala411GlyfsTer20) c.596dup (p.Ala200GlyfsTer20) n.336dup c.959dup (p.Ala321GlyfsTer20) | |
| X | g.149483171G>A | CA519174216 | IDS | c.1228C>T (p.Leu410=) c.595C>T (p.Leu199=) n.335C>T c.958C>T (p.Leu320=) | COSMIC |
| X | g.149483171G>C | CA414518537 | IDS | c.1228C>G (p.Leu410Val) c.595C>G (p.Leu199Val) n.335C>G c.958C>G (p.Leu320Val) | |
| X | g.149483171G>T | CA414518538 | IDS | c.1228C>A (p.Leu410Met) c.595C>A (p.Leu199Met) n.335C>A c.958C>A (p.Leu320Met) | |
| X | g.149483172C>A | CA519174220 | IDS | c.1227G>T (p.Thr409=) c.594G>T (p.Thr198=) n.334G>T c.957G>T (p.Thr319=) | gnomAD v4 |
| X | g.149483172C= | CA2465004077 | IDS | c.1227G= (p.Thr409=) c.594G= (p.Thr198=) n.334G= c.957G= (p.Thr319=) | |
| X | g.149483172C>G | CA519174221 | IDS | c.1227G>C (p.Thr409=) c.594G>C (p.Thr198=) n.334G>C c.957G>C (p.Thr319=) | |
| X | g.149483172C>T | CA247947 | IDS | c.1227G>A (p.Thr409=) c.594G>A (p.Thr198=) n.334G>A c.957G>A (p.Thr319=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149483173G>A | CA10537474 | IDS | c.1226C>T (p.Thr409Met) c.593C>T (p.Thr198Met) n.333C>T c.956C>T (p.Thr319Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.149483173G>C | CA414518539 | IDS | c.1226C>G (p.Thr409Arg) c.593C>G (p.Thr198Arg) n.333C>G c.956C>G (p.Thr319Arg) | |
| X | g.149483173G= | CA2465004078 | IDS | c.1226C= (p.Thr409=) c.593C= (p.Thr198=) n.333C= c.956C= (p.Thr319=) | |
| X | g.149483173G>T | CA414518540 | IDS | c.1226C>A (p.Thr409Lys) c.593C>A (p.Thr198Lys) n.333C>A c.956C>A (p.Thr319Lys) | |
| X | g.149483174T>A | CA414518542 | IDS | c.1225A>T (p.Thr409Ser) c.592A>T (p.Thr198Ser) n.332A>T c.955A>T (p.Thr319Ser) | |
| X | g.149483174T>C | CA414518543 | IDS | c.1225A>G (p.Thr409Ala) c.592A>G (p.Thr198Ala) n.332A>G c.955A>G (p.Thr319Ala) | |
| X | g.149483174T>G | CA414518541 | IDS | c.1225A>C (p.Thr409Pro) c.592A>C (p.Thr198Pro) n.332A>C c.955A>C (p.Thr319Pro) | |
| X | g.149483174_149483175insCCC | CA2739289616 | IDS | c.1224_1225insGGG (p.Pro408_Thr409insGly) c.591_592insGGG (p.Pro197_Thr198insGly) n.331_332insGGG c.954_955insGGG (p.Pro318_Thr319insGly) | |
| X | g.149483175G>A | CA519174226 | IDS | c.1224C>T (p.Pro408=) c.591C>T (p.Pro197=) n.331C>T c.954C>T (p.Pro318=) | dbSNP |
| X | g.149483175G>C | CA519174228 | IDS | c.1224C>G (p.Pro408=) c.591C>G (p.Pro197=) n.331C>G c.954C>G (p.Pro318=) | |
| X | g.149483175G= | CA2465004079 | IDS | c.1224C= (p.Pro408=) c.591C= (p.Pro197=) n.331C= c.954C= (p.Pro318=) | |
| X | g.149483175G>T | CA519174230 | IDS | c.1224C>A (p.Pro408=) c.591C>A (p.Pro197=) n.331C>A c.954C>A (p.Pro318=) | |
| X | g.149483177dup | CA2573159288 | IDS | c.1224dup (p.Thr409HisfsTer22) c.591dup (p.Thr198HisfsTer22) n.331dup c.954dup (p.Thr319HisfsTer22) | ClinVar dbSNP |
| X | g.149483177del | CA2695236538 | IDS | c.1224del (p.Thr409ArgfsTer?) c.591del (p.Thr198ArgfsTer?) n.331del c.954del (p.Thr319ArgfsTer?) | |
| X | g.149483176G>A | CA414518545 | IDS | c.1223C>T (p.Pro408Leu) c.590C>T (p.Pro197Leu) n.330C>T c.953C>T (p.Pro318Leu) | gnomAD v4 |
| X | g.149483176G>C | CA414518544 | IDS | c.1223C>G (p.Pro408Arg) c.590C>G (p.Pro197Arg) n.330C>G c.953C>G (p.Pro318Arg) | |
| X | g.149483176G>T | CA414518546 | IDS | c.1223C>A (p.Pro408His) c.590C>A (p.Pro197His) n.330C>A c.953C>A (p.Pro318His) | |
| X | g.149483177G>A | CA10537475 | IDS | c.1222C>T (p.Pro408Ser) c.589C>T (p.Pro197Ser) n.329C>T c.952C>T (p.Pro318Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149483177G>C | CA414518548 | IDS | c.1222C>G (p.Pro408Ala) c.589C>G (p.Pro197Ala) n.329C>G c.952C>G (p.Pro318Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.149483177G= | CA2465004080 | IDS | c.1222C= (p.Pro408=) c.589C= (p.Pro197=) n.329C= c.952C= (p.Pro318=) | |
| X | g.149483177G>T | CA414518547 | IDS | c.1222C>A (p.Pro408Thr) c.589C>A (p.Pro197Thr) n.329C>A c.952C>A (p.Pro318Thr) | |
| X | g.149483177delinsTA | CA2695236539 | IDS | c.1222delinsTA (p.Pro408TyrfsTer23) c.589delinsTA (p.Pro197TyrfsTer23) n.329delinsTA c.952delinsTA (p.Pro318TyrfsTer23) | |
| X | g.149483177_149483178delinsGA | CA2465004081 | IDS | c.1221_1222delinsTC (p.Phe407=) c.588_589delinsTC (p.Phe196=) n.328_329delinsTC c.951_952delinsTC (p.Phe317=) | |
| X | g.149483178A>C | CA414518549 | IDS | c.1221T>G (p.Phe407Leu) c.588T>G (p.Phe196Leu) n.328T>G c.951T>G (p.Phe317Leu) | |
| X | g.149483178A>G | CA519174235 | IDS | c.1221T>C (p.Phe407=) c.588T>C (p.Phe196=) n.328T>C c.951T>C (p.Phe317=) | |
| X | g.149483178A>T | CA414518550 | IDS | c.1221T>A (p.Phe407Leu) c.588T>A (p.Phe196Leu) n.328T>A c.951T>A (p.Phe317Leu) | gnomAD v4 |
| X | g.149483182del | CA2465004082 | IDS | c.1221del (p.Thr409ArgfsTer?) c.588del (p.Thr198ArgfsTer?) n.328del c.951del (p.Thr319ArgfsTer?) | ClinVar dbSNP |
| X | g.149483181_149483182del | CA2695236542 | IDS | c.1220_1221del (p.Phe407SerfsTer23) c.587_588del (p.Phe196SerfsTer23) n.327_328del c.950_951del (p.Phe317SerfsTer23) | |
| X | g.149483178_149483185delinsAAAAAGAG | CA2465004083 | IDS | c.1214_1221delinsCTCTTTTT (p.Ser405=) c.581_588delinsCTCTTTTT (p.Ser194=) n.321_328delinsCTCTTTTT c.944_951delinsCTCTTTTT (p.Ser315=) | |
| X | g.149483179A>C | CA414518551 | IDS | c.1220T>G (p.Phe407Cys) c.587T>G (p.Phe196Cys) n.327T>G c.950T>G (p.Phe317Cys) | |
| X | g.149483179A>G | CA414518553 | IDS | c.1220T>C (p.Phe407Ser) c.587T>C (p.Phe196Ser) n.327T>C c.950T>C (p.Phe317Ser) | |
| X | g.149483179A>T | CA414518552 | IDS | c.1220T>A (p.Phe407Tyr) c.587T>A (p.Phe196Tyr) n.327T>A c.950T>A (p.Phe317Tyr) | |
| X | g.149483180_149483186del | CA2465004084 | IDS | c.1214_1220del (p.Ser405PhefsTer?) c.581_587del (p.Ser194PhefsTer?) n.321_327del c.944_950del (p.Ser315PhefsTer?) | ClinVar dbSNP |
| X | g.149483180A>C | CA414518554 | IDS | c.1219T>G (p.Phe407Val) c.586T>G (p.Phe196Val) n.326T>G c.949T>G (p.Phe317Val) | |
| X | g.149483180A>G | CA414518555 | IDS | c.1219T>C (p.Phe407Leu) c.586T>C (p.Phe196Leu) n.326T>C c.949T>C (p.Phe317Leu) | |
| X | g.149483180A>T | CA414518556 | IDS | c.1219T>A (p.Phe407Ile) c.586T>A (p.Phe196Ile) n.326T>A c.949T>A (p.Phe317Ile) | |
| X | g.149483181A>C | CA519174241 | IDS | c.1218T>G (p.Leu406=) c.585T>G (p.Leu195=) n.325T>G c.948T>G (p.Leu316=) | |
| X | g.149483181A>G | CA519174242 | IDS | c.1218T>C (p.Leu406=) c.585T>C (p.Leu195=) n.325T>C c.948T>C (p.Leu316=) | |
| X | g.149483181A>T | CA519174243 | IDS | c.1218T>A (p.Leu406=) c.585T>A (p.Leu195=) n.325T>A c.948T>A (p.Leu316=) | |
| X | g.149483182A>C | CA414518557 | IDS | c.1217T>G (p.Leu406Arg) c.584T>G (p.Leu195Arg) n.324T>G c.947T>G (p.Leu316Arg) | |
| X | g.149483182A>G | CA414518558 | IDS | c.1217T>C (p.Leu406Pro) c.584T>C (p.Leu195Pro) n.324T>C c.947T>C (p.Leu316Pro) | |
| X | g.149483182A>T | CA414518559 | IDS | c.1217T>A (p.Leu406His) c.584T>A (p.Leu195His) n.324T>A c.947T>A (p.Leu316His) | |
| X | g.149483185_149483186del | CA2580612500 | IDS | c.1216_1217del (p.Leu406PhefsTer24) c.583_584del (p.Leu195PhefsTer24) n.323_324del c.946_947del (p.Leu316PhefsTer24) | ClinVar dbSNP |
| X | g.149483183G>A | CA414518560 | IDS | c.1216C>T (p.Leu406Phe) c.583C>T (p.Leu195Phe) n.323C>T c.946C>T (p.Leu316Phe) | |
| X | g.149483183G>C | CA414518561 | IDS | c.1216C>G (p.Leu406Val) c.583C>G (p.Leu195Val) n.323C>G c.946C>G (p.Leu316Val) | |
| X | g.149483183G>T | CA414518562 | IDS | c.1216C>A (p.Leu406Ile) c.583C>A (p.Leu195Ile) n.323C>A c.946C>A (p.Leu316Ile) | |
| X | g.149483184del | CA2695236545 | IDS | c.1215del (p.Leu406PhefsTer?) c.582del (p.Leu195PhefsTer?) n.322del c.945del (p.Leu316PhefsTer?) | |
| X | g.149483184A>C | CA519174245 | IDS | c.1215T>G (p.Ser405=) c.582T>G (p.Ser194=) n.322T>G c.945T>G (p.Ser315=) | |
| X | g.149483184A>G | CA519174248 | IDS | c.1215T>C (p.Ser405=) c.582T>C (p.Ser194=) n.322T>C c.945T>C (p.Ser315=) | |
| X | g.149483184A>T | CA519174250 | IDS | c.1215T>A (p.Ser405=) c.582T>A (p.Ser194=) n.322T>A c.945T>A (p.Ser315=) | |
| X | g.149483185_149483188dup | CA2695236546 | IDS | c.1212_1215dup (p.Leu406ValfsTer26) c.579_582dup (p.Leu195ValfsTer26) n.319_322dup c.942_945dup (p.Leu316ValfsTer26) | |
| X | g.149483185G>A | CA414518563 | IDS | c.1214C>T (p.Ser405Phe) c.581C>T (p.Ser194Phe) n.321C>T c.944C>T (p.Ser315Phe) | ClinVar dbSNP COSMIC |
| X | g.149483185G>C | CA414518564 | IDS | c.1214C>G (p.Ser405Cys) c.581C>G (p.Ser194Cys) n.321C>G c.944C>G (p.Ser315Cys) | gnomAD v4 |
| X | g.149483185G= | CA2465004085 | IDS | c.1214C= (p.Ser405=) c.581C= (p.Ser194=) n.321C= c.944C= (p.Ser315=) | |
| X | g.149483185G>T | CA414518565 | IDS | c.1214C>A (p.Ser405Tyr) c.581C>A (p.Ser194Tyr) n.321C>A c.944C>A (p.Ser315Tyr) | |
| X | g.149483186A>C | CA414518568 | IDS | c.1213T>G (p.Ser405Ala) c.580T>G (p.Ser194Ala) n.320T>G c.943T>G (p.Ser315Ala) | |
| X | g.149483186A>G | CA414518566 | IDS | c.1213T>C (p.Ser405Pro) c.580T>C (p.Ser194Pro) n.320T>C c.943T>C (p.Ser315Pro) | |
| X | g.149483186A>T | CA414518567 | IDS | c.1213T>A (p.Ser405Thr) c.580T>A (p.Ser194Thr) n.320T>A c.943T>A (p.Ser315Thr) | |
| X | g.149483187C>A | CA519174256 | IDS | c.1212G>T (p.Val404=) c.579G>T (p.Val193=) n.319G>T c.942G>T (p.Val314=) | |
| X | g.149483187C>G | CA519174257 | IDS | c.1212G>C (p.Val404=) c.579G>C (p.Val193=) n.319G>C c.942G>C (p.Val314=) | ClinVar dbSNP gnomAD v4 |
| X | g.149483187C>T | CA519174258 | IDS | c.1212G>A (p.Val404=) c.579G>A (p.Val193=) n.319G>A c.942G>A (p.Val314=) | dbSNP |
| X | g.149483188A>C | CA414518569 | IDS | c.1211T>G (p.Val404Gly) c.578T>G (p.Val193Gly) n.318T>G c.941T>G (p.Val314Gly) | |
| X | g.149483188A>G | CA414518570 | IDS | c.1211T>C (p.Val404Ala) c.578T>C (p.Val193Ala) n.318T>C c.941T>C (p.Val314Ala) | COSMIC |
| X | g.149483188A>T | CA414518571 | IDS | c.1211T>A (p.Val404Glu) c.578T>A (p.Val193Glu) n.318T>A c.941T>A (p.Val314Glu) | |
| X | g.149483189C>A | CA414518572 | IDS | c.1210G>T (p.Val404Leu) c.577G>T (p.Val193Leu) n.317G>T c.940G>T (p.Val314Leu) | |
| X | g.149483189C>G | CA414518573 | IDS | c.1210G>C (p.Val404Leu) c.577G>C (p.Val193Leu) n.317G>C c.940G>C (p.Val314Leu) | |
| X | g.149483189C>T | CA414518574 | IDS | c.1210G>A (p.Val404Met) c.577G>A (p.Val193Met) n.317G>A c.940G>A (p.Val314Met) | |
| X | g.149483190A>C | CA519174276 | IDS | c.1209T>G (p.Leu403=) c.576T>G (p.Leu192=) n.316T>G c.939T>G (p.Leu313=) | |
| X | g.149483190A>G | CA519174274 | IDS | c.1209T>C (p.Leu403=) c.576T>C (p.Leu192=) n.316T>C c.939T>C (p.Leu313=) | |
| X | g.149483190A>T | CA519174270 | IDS | c.1209T>A (p.Leu403=) c.576T>A (p.Leu192=) n.316T>A c.939T>A (p.Leu313=) | |
| X | g.149483191A>C | CA414518575 | IDS | c.1208T>G (p.Leu403Arg) c.575T>G (p.Leu192Arg) n.315T>G c.938T>G (p.Leu313Arg) | |
| X | g.149483191A>G | CA414518576 | IDS | c.1208T>C (p.Leu403Pro) c.575T>C (p.Leu192Pro) n.315T>C c.938T>C (p.Leu313Pro) | |
| X | g.149483191A>T | CA414518577 | IDS | c.1208T>A (p.Leu403His) c.575T>A (p.Leu192His) n.315T>A c.938T>A (p.Leu313His) | |
| X | g.149483192G>A | CA414518578 | IDS | c.1207C>T (p.Leu403Phe) c.574C>T (p.Leu192Phe) n.314C>T c.937C>T (p.Leu313Phe) | |
| X | g.149483192G>C | CA414518579 | IDS | c.1207C>G (p.Leu403Val) c.574C>G (p.Leu192Val) n.314C>G c.937C>G (p.Leu313Val) | ClinVar |
| X | g.149483192G>T | CA414518580 | IDS | c.1207C>A (p.Leu403Ile) c.574C>A (p.Leu192Ile) n.314C>A c.937C>A (p.Leu313Ile) | |
| X | g.149483193T>A | CA414518582 | IDS | c.1206A>T (p.Glu402Asp) c.573A>T (p.Glu191Asp) n.313A>T c.936A>T (p.Glu312Asp) | |
| X | g.149483193T>C | CA519174284 | IDS | c.1206A>G (p.Glu402=) c.573A>G (p.Glu191=) n.313A>G c.936A>G (p.Glu312=) | gnomAD v4 |
| X | g.149483193T>G | CA414518581 | IDS | c.1206A>C (p.Glu402Asp) c.573A>C (p.Glu191Asp) n.313A>C c.936A>C (p.Glu312Asp) | |
| X | g.149483194T>A | CA414518583 | IDS | c.1205A>T (p.Glu402Val) c.572A>T (p.Glu191Val) n.312A>T c.935A>T (p.Glu312Val) | |
| X | g.149483194T>C | CA414518584 | IDS | c.1205A>G (p.Glu402Gly) c.572A>G (p.Glu191Gly) n.312A>G c.935A>G (p.Glu312Gly) | |
| X | g.149483194T>G | CA414518585 | IDS | c.1205A>C (p.Glu402Ala) c.572A>C (p.Glu191Ala) n.312A>C c.935A>C (p.Glu312Ala) | dbSNP |
| X | g.149483194T= | CA2465004086 | IDS | c.1205A= (p.Glu402=) c.572A= (p.Glu191=) n.312A= c.935A= (p.Glu312=) | |
| X | g.149483195C>A | CA414518586 | IDS | c.1204G>T (p.Glu402Ter) c.571G>T (p.Glu191Ter) n.311G>T c.934G>T (p.Glu312Ter) | |
| X | g.149483195C>G | CA414518587 | IDS | c.1204G>C (p.Glu402Gln) c.571G>C (p.Glu191Gln) n.311G>C c.934G>C (p.Glu312Gln) | |
| X | g.149483195C>T | CA414518588 | IDS | c.1204G>A (p.Glu402Lys) c.571G>A (p.Glu191Lys) n.311G>A c.934G>A (p.Glu312Lys) | |
| X | g.149483196C>A | CA519174290 | IDS | c.1203G>T (p.Val401=) c.570G>T (p.Val190=) n.310G>T c.933G>T (p.Val311=) | |
| X | g.149483196C>G | CA519174297 | IDS | c.1203G>C (p.Val401=) c.570G>C (p.Val190=) n.310G>C c.933G>C (p.Val311=) | |
| X | g.149483196C>T | CA519174295 | IDS | c.1203G>A (p.Val401=) c.570G>A (p.Val190=) n.310G>A c.933G>A (p.Val311=) | ClinVar |
| X | g.149483198_149483199del | CA2579719106 | IDS | c.1202_1203del (p.Val401GlyfsTer29) c.569_570del (p.Val190GlyfsTer29) n.309_310del c.932_933del (p.Val311GlyfsTer29) | |
| X | g.149483197A>C | CA414518591 | IDS | c.1202T>G (p.Val401Gly) c.569T>G (p.Val190Gly) n.309T>G c.932T>G (p.Val311Gly) | |
| X | g.149483197A>G | CA414518590 | IDS | c.1202T>C (p.Val401Ala) c.569T>C (p.Val190Ala) n.309T>C c.932T>C (p.Val311Ala) | |
| X | g.149483197A>T | CA414518589 | IDS | c.1202T>A (p.Val401Glu) c.569T>A (p.Val190Glu) n.309T>A c.932T>A (p.Val311Glu) | |
| X | g.149483198C>A | CA414518592 | IDS | c.1201G>T (p.Val401Leu) c.568G>T (p.Val190Leu) n.308G>T c.931G>T (p.Val311Leu) | |
| X | g.149483198C>G | CA414518593 | IDS | c.1201G>C (p.Val401Leu) c.568G>C (p.Val190Leu) n.308G>C c.931G>C (p.Val311Leu) | |
| X | g.149483198C>T | CA414518594 | IDS | c.1201G>A (p.Val401Met) c.568G>A (p.Val190Met) n.308G>A c.931G>A (p.Val311Met) | |
| X | g.149483199A>C | CA519174298 | IDS | c.1200T>G (p.Leu400=) c.567T>G (p.Leu189=) n.307T>G c.930T>G (p.Leu310=) | |
| X | g.149483199A>G | CA519174300 | IDS | c.1200T>C (p.Leu400=) c.567T>C (p.Leu189=) n.307T>C c.930T>C (p.Leu310=) | |
| X | g.149483199A>T | CA519174303 | IDS | c.1200T>A (p.Leu400=) c.567T>A (p.Leu189=) n.307T>A c.930T>A (p.Leu310=) | |
| X | g.149483200A>C | CA414518595 | IDS | c.1199T>G (p.Leu400Arg) c.566T>G (p.Leu189Arg) n.306T>G c.929T>G (p.Leu310Arg) | |
| X | g.149483200A>G | CA414518596 | IDS | c.1199T>C (p.Leu400Pro) c.566T>C (p.Leu189Pro) n.306T>C c.929T>C (p.Leu310Pro) | ClinVar gnomAD v4 |
| X | g.149483200A>T | CA414518597 | IDS | c.1199T>A (p.Leu400His) c.566T>A (p.Leu189His) n.306T>A c.929T>A (p.Leu310His) | |
| X | g.149483201G>A | CA414518598 | IDS | c.1198C>T (p.Leu400Phe) c.565C>T (p.Leu189Phe) n.305C>T c.928C>T (p.Leu310Phe) | |
| X | g.149483201G>C | CA414518600 | IDS | c.1198C>G (p.Leu400Val) c.565C>G (p.Leu189Val) n.305C>G c.928C>G (p.Leu310Val) | |
| X | g.149483201G>T | CA414518599 | IDS | c.1198C>A (p.Leu400Ile) c.565C>A (p.Leu189Ile) n.305C>A c.928C>A (p.Leu310Ile) | |
| X | g.149483202dup | CA2695236549 | IDS | c.1198dup (p.Leu400ProfsTer?) c.565dup (p.Leu189ProfsTer?) n.305dup c.928dup (p.Leu310ProfsTer?) | |
| X | g.149483202G>A | CA519174308 | IDS | c.1197C>T (p.Asp399=) c.564C>T (p.Asp188=) n.304C>T c.927C>T (p.Asp309=) | ClinVar |
| X | g.149483202G>C | CA414518601 | IDS | c.1197C>G (p.Asp399Glu) c.564C>G (p.Asp188Glu) n.304C>G c.927C>G (p.Asp309Glu) | |
| X | g.149483202G>T | CA414518602 | IDS | c.1197C>A (p.Asp399Glu) c.564C>A (p.Asp188Glu) n.304C>A c.927C>A (p.Asp309Glu) | |
| X | g.149483203T>A | CA414518603 | IDS | c.1196A>T (p.Asp399Val) c.563A>T (p.Asp188Val) n.303A>T c.926A>T (p.Asp309Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.149483203T>C | CA414518604 | IDS | c.1196A>G (p.Asp399Gly) c.563A>G (p.Asp188Gly) n.303A>G c.926A>G (p.Asp309Gly) | |
| X | g.149483203T>G | CA414518605 | IDS | c.1196A>C (p.Asp399Ala) c.563A>C (p.Asp188Ala) n.303A>C c.926A>C (p.Asp309Ala) | |
| X | g.149483203T= | CA2465004087 | IDS | c.1196A= (p.Asp399=) c.563A= (p.Asp188=) n.303A= c.926A= (p.Asp309=) | |
| X | g.149483204C>A | CA414518606 | IDS | c.1195G>T (p.Asp399Tyr) c.562G>T (p.Asp188Tyr) n.302G>T c.925G>T (p.Asp309Tyr) | |
| X | g.149483204C>G | CA414518607 | IDS | c.1195G>C (p.Asp399His) c.562G>C (p.Asp188His) n.302G>C c.925G>C (p.Asp309His) | gnomAD v4 |
| X | g.149483204C>T | CA414518608 | IDS | c.1195G>A (p.Asp399Asn) c.562G>A (p.Asp188Asn) n.302G>A c.925G>A (p.Asp309Asn) | |
| X | g.149483205C>A | CA414518609 | IDS | c.1194G>T (p.Met398Ile) c.561G>T (p.Met187Ile) n.301G>T c.924G>T (p.Met308Ile) | |
| X | g.149483205C>G | CA414518610 | IDS | c.1194G>C (p.Met398Ile) c.561G>C (p.Met187Ile) n.301G>C c.924G>C (p.Met308Ile) | |
| X | g.149483205C>T | CA414518611 | IDS | c.1194G>A (p.Met398Ile) c.561G>A (p.Met187Ile) n.301G>A c.924G>A (p.Met308Ile) | |
| X | g.149483206A= | CA2465004088 | IDS | c.1193T= (p.Met398=) c.560T= (p.Met187=) n.300T= c.923T= (p.Met308=) | |
| X | g.149483206A>C | CA414518612 | IDS | c.1193T>G (p.Met398Arg) c.560T>G (p.Met187Arg) n.300T>G c.923T>G (p.Met308Arg) | |
| X | g.149483206A>G | CA10537476 | IDS | c.1193T>C (p.Met398Thr) c.560T>C (p.Met187Thr) n.300T>C c.923T>C (p.Met308Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149483206A>T | CA414518613 | IDS | c.1193T>A (p.Met398Lys) c.560T>A (p.Met187Lys) n.300T>A c.923T>A (p.Met308Lys) | |
| X | g.149483207T>A | CA414518614 | IDS | c.1192A>T (p.Met398Leu) c.559A>T (p.Met187Leu) n.299A>T c.922A>T (p.Met308Leu) | |
| X | g.149483207T>C | CA414518616 | IDS | c.1192A>G (p.Met398Val) c.559A>G (p.Met187Val) n.299A>G c.922A>G (p.Met308Val) | gnomAD v4 |
| X | g.149483207T>G | CA414518615 | IDS | c.1192A>C (p.Met398Leu) c.559A>C (p.Met187Leu) n.299A>C c.922A>C (p.Met308Leu) | dbSNP |
| X | g.149483207T= | CA2465004089 | IDS | c.1192A= (p.Met398=) c.559A= (p.Met187=) n.299A= c.922A= (p.Met308=) | |
| X | g.149483207_149483208delinsTG | CA2465004090 | IDS | c.1191_1192delinsCA (p.Ser397=) c.558_559delinsCA (p.Ser186=) n.298_299delinsCA c.921_922delinsCA (p.Ser307=) | |
| X | g.149483207_149483218del | CA2695236551 | IDS | c.1181_1192del (p.Gly394_Met398delinsVal) c.548_559del (p.Gly183_Met187delinsVal) n.288_299del c.911_922del (p.Gly304_Met308delinsVal) | |
| X | g.149483208G>A | CA519174328 | IDS | c.1191C>T (p.Ser397=) c.558C>T (p.Ser186=) n.298C>T c.921C>T (p.Ser307=) | ClinVar |
| X | g.149483208G>C | CA519174329 | IDS | c.1191C>G (p.Ser397=) c.558C>G (p.Ser186=) n.298C>G c.921C>G (p.Ser307=) | |
| X | g.149483208G>T | CA519174330 | IDS | c.1191C>A (p.Ser397=) c.558C>A (p.Ser186=) n.298C>A c.921C>A (p.Ser307=) | |
| X | g.149483209del | CA2465004091 | IDS | c.1191del (p.Met398TrpfsTer?) c.558del (p.Met187TrpfsTer?) n.298del c.921del (p.Met308TrpfsTer?) | ClinVar dbSNP |
| X | g.149483209G>A | CA414518617 | IDS | c.1190C>T (p.Ser397Phe) c.557C>T (p.Ser186Phe) n.297C>T c.920C>T (p.Ser307Phe) | |
| X | g.149483209G>C | CA414518618 | IDS | c.1190C>G (p.Ser397Cys) c.557C>G (p.Ser186Cys) n.297C>G c.920C>G (p.Ser307Cys) | |
| X | g.149483209G>T | CA414518619 | IDS | c.1190C>A (p.Ser397Tyr) c.557C>A (p.Ser186Tyr) n.297C>A c.920C>A (p.Ser307Tyr) | |
| X | g.149483210A>C | CA414518620 | IDS | c.1189T>G (p.Ser397Ala) c.556T>G (p.Ser186Ala) n.296T>G c.919T>G (p.Ser307Ala) | |
| X | g.149483210A>G | CA414518621 | IDS | c.1189T>C (p.Ser397Pro) c.556T>C (p.Ser186Pro) n.296T>C c.919T>C (p.Ser307Pro) | |
| X | g.149483210A>T | CA414518622 | IDS | c.1189T>A (p.Ser397Thr) c.556T>A (p.Ser186Thr) n.296T>A c.919T>A (p.Ser307Thr) | |
| X | g.149483211T>A | CA414518623 | IDS | c.1188A>T (p.Gln396His) c.555A>T (p.Gln185His) n.295A>T c.918A>T (p.Gln306His) | |
| X | g.149483211T>C | CA519174336 | IDS | c.1188A>G (p.Gln396=) c.555A>G (p.Gln185=) n.295A>G c.918A>G (p.Gln306=) | ClinVar dbSNP gnomAD v4 |
| X | g.149483211T>G | CA414518624 | IDS | c.1188A>C (p.Gln396His) c.555A>C (p.Gln185His) n.295A>C c.918A>C (p.Gln306His) | |
| X | g.149483212del | CA2580101624 | IDS | c.1188del (p.Gln396HisfsTer?) c.555del (p.Gln185HisfsTer?) n.295del c.918del (p.Gln306HisfsTer?) | ClinVar |
| X | g.149483212T>A | CA414518625 | IDS | c.1187A>T (p.Gln396Leu) c.554A>T (p.Gln185Leu) n.294A>T c.917A>T (p.Gln306Leu) | |
| X | g.149483212T>C | CA414518626 | IDS | c.1187A>G (p.Gln396Arg) c.554A>G (p.Gln185Arg) n.294A>G c.917A>G (p.Gln306Arg) | |
| X | g.149483212T>G | CA414518627 | IDS | c.1187A>C (p.Gln396Pro) c.554A>C (p.Gln185Pro) n.294A>C c.917A>C (p.Gln306Pro) | |
| X | g.149483212_149483213insAGGCA | CA2695236553 | IDS | c.1186_1187insTGCCT (p.Gln396LeufsTer?) c.553_554insTGCCT (p.Gln185LeufsTer?) n.293_294insTGCCT c.916_917insTGCCT (p.Gln306LeufsTer?) | |
| X | g.149483213del | CA2579719107 | IDS | c.1186del (p.Gln396AsnfsTer?) c.553del (p.Gln185AsnfsTer?) n.293del c.916del (p.Gln306AsnfsTer?) | |
| X | g.149483213G>A | CA414518630 | IDS | c.1186C>T (p.Gln396Ter) c.553C>T (p.Gln185Ter) n.293C>T c.916C>T (p.Gln306Ter) | |
| X | g.149483213G>C | CA414518628 | IDS | c.1186C>G (p.Gln396Glu) c.553C>G (p.Gln185Glu) n.293C>G c.916C>G (p.Gln306Glu) | |
| X | g.149483213G>T | CA414518629 | IDS | c.1186C>A (p.Gln396Lys) c.553C>A (p.Gln185Lys) n.293C>A c.916C>A (p.Gln306Lys) | |
| X | g.149483213_149483223del | CA2739289617 | IDS | c.1181-5_1186del c.548-5_553del n.288-5_293del c.911-5_916del | |
| X | g.149483214C>A | CA414518631 | IDS | c.1185G>T (p.Arg395Ser) c.552G>T (p.Arg184Ser) n.292G>T c.915G>T (p.Arg305Ser) | |
| X | g.149483214C>G | CA414518632 | IDS | c.1185G>C (p.Arg395Ser) c.552G>C (p.Arg184Ser) n.292G>C c.915G>C (p.Arg305Ser) | |
| X | g.149483214C>T | CA519174345 | IDS | c.1185G>A (p.Arg395=) c.552G>A (p.Arg184=) n.292G>A c.915G>A (p.Arg305=) | |
| X | g.149483215del | CA2695236554 | IDS | c.1185del (p.Arg395SerfsTer?) c.552del (p.Arg184SerfsTer?) n.292del c.915del (p.Arg305SerfsTer?) | |
| X | g.149483215C>A | CA414518633 | IDS | c.1184G>T (p.Arg395Met) c.551G>T (p.Arg184Met) n.291G>T c.914G>T (p.Arg305Met) | |
| X | g.149483215C= | CA2465004092 | IDS | c.1184G= (p.Arg395=) c.551G= (p.Arg184=) n.291G= c.914G= (p.Arg305=) | |
| X | g.149483215C>G | CA10537477 | IDS | c.1184G>C (p.Arg395Thr) c.551G>C (p.Arg184Thr) n.291G>C c.914G>C (p.Arg305Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149483215C>T | CA414518634 | IDS | c.1184G>A (p.Arg395Lys) c.551G>A (p.Arg184Lys) n.291G>A c.914G>A (p.Arg305Lys) | |
| X | g.149483216T>A | CA414518635 | IDS | c.1183A>T (p.Arg395Trp) c.550A>T (p.Arg184Trp) n.290A>T c.913A>T (p.Arg305Trp) | |
| X | g.149483216T>C | CA414518636 | IDS | c.1183A>G (p.Arg395Gly) c.550A>G (p.Arg184Gly) n.290A>G c.913A>G (p.Arg305Gly) | |
| X | g.149483216T>G | CA519173475 | IDS | c.1183A>C (p.Arg395=) c.550A>C (p.Arg184=) n.290A>C c.913A>C (p.Arg305=) | |
| X | g.149483217G>A | CA519173479 | IDS | c.1182C>T (p.Gly394=) c.549C>T (p.Gly183=) n.289C>T c.912C>T (p.Gly304=) | |
| X | g.149483217G>C | CA519173478 | IDS | c.1182C>G (p.Gly394=) c.549C>G (p.Gly183=) n.289C>G c.912C>G (p.Gly304=) | |
| X | g.149483217G>T | CA519173476 | IDS | c.1182C>A (p.Gly394=) c.549C>A (p.Gly183=) n.289C>A c.912C>A (p.Gly304=) | |
| X | g.149483218C>A | CA414518637 | IDS | c.1181G>T (p.Gly394Val) c.548G>T (p.Gly183Val) n.288G>T c.911G>T (p.Gly304Val) | |
| X | g.149483218C>G | CA414518638 | IDS | c.1181G>C (p.Gly394Ala) c.548G>C (p.Gly183Ala) n.288G>C c.911G>C (p.Gly304Ala) | |
| X | g.149483218C>T | CA414518639 | IDS | c.1181G>A (p.Gly394Asp) c.548G>A (p.Gly183Asp) n.288G>A c.911G>A (p.Gly304Asp) | gnomAD v4 |
| X | g.149483219C>A | CA414518640 | IDS | c.1181-1G>T (n.1181-1G>T) c.548-1G>T (n.548-1G>T) n.288-1G>T c.911-1G>T (n.911-1G>T) | |
| X | g.149483219C= | CA2465004093 | IDS | c.1181-1G= (n.1181-1G=) c.548-1G= (n.548-1G=) n.288-1G= c.911-1G= (n.911-1G=) | |
| X | g.149483219C>G | CA414518641 | IDS | c.1181-1G>C (n.1181-1G>C) c.548-1G>C (n.548-1G>C) n.288-1G>C c.911-1G>C (n.911-1G>C) | ClinVar dbSNP |
| X | g.149483219C>T | CA348675 | IDS | c.1181-1G>A (n.1181-1G>A) c.548-1G>A (n.548-1G>A) n.288-1G>A c.911-1G>A (n.911-1G>A) | ClinVar dbSNP |
| X | g.149483220T>A | CA414518642 | IDS | c.1181-2A>T (n.1181-2A>T) c.548-2A>T (n.548-2A>T) n.288-2A>T c.911-2A>T (n.911-2A>T) | |
| X | g.149483220T>C | CA414518643 | IDS | c.1181-2A>G (n.1181-2A>G) c.548-2A>G (n.548-2A>G) n.288-2A>G c.911-2A>G (n.911-2A>G) | |
| X | g.149483220T>G | CA414518644 | IDS | c.1181-2A>C (n.1181-2A>C) c.548-2A>C (n.548-2A>C) n.288-2A>C c.911-2A>C (n.911-2A>C) | |
| X | g.149483221G>T | CA2579719108 | IDS | c.1181-3C>A (n.1181-3C>A) c.548-3C>A (n.548-3C>A) n.288-3C>A c.911-3C>A (n.911-3C>A) | |
| X | g.149483230A>G | CA2694908957 | IDS | c.1181-12T>C (n.1181-12T>C) c.548-12T>C (n.548-12T>C) n.288-12T>C c.911-12T>C (n.911-12T>C) | gnomAD v4 |
| X | g.149483231G>A | CA10537478 | IDS | c.1181-13C>T (n.1181-13C>T) c.548-13C>T (n.548-13C>T) n.288-13C>T c.911-13C>T (n.911-13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149483231G= | CA2465004094 | IDS | c.1181-13C= (n.1181-13C=) c.548-13C= (n.548-13C=) n.288-13C= c.911-13C= (n.911-13C=) | |
| X | g.149483231G>T | CA2579719109 | IDS | c.1181-13C>A (n.1181-13C>A) c.548-13C>A (n.548-13C>A) n.288-13C>A c.911-13C>A (n.911-13C>A) | |
| X | g.149483232C= | CA2465004095 | IDS | c.1181-14G= (n.1181-14G=) c.548-14G= (n.548-14G=) n.288-14G= c.911-14G= (n.911-14G=) | |
| X | g.149483232C>T | CA10537479 | IDS | c.1181-14G>A (n.1181-14G>A) c.548-14G>A (n.548-14G>A) n.288-14G>A c.911-14G>A (n.911-14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149483233G>A | CA10537480 | IDS | c.1181-15C>T (n.1181-15C>T) c.548-15C>T (n.548-15C>T) n.288-15C>T c.911-15C>T (n.911-15C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149483233G= | CA2465004096 | IDS | c.1181-15C= (n.1181-15C=) c.548-15C= (n.548-15C=) n.288-15C= c.911-15C= (n.911-15C=) | |
| X | g.149483233G>T | CA2694908958 | IDS | c.1181-15C>A (n.1181-15C>A) c.548-15C>A (n.548-15C>A) n.288-15C>A c.911-15C>A (n.911-15C>A) | gnomAD v4 |
| X | g.149483237_149483253dup | CA2694908959 | IDS | c.1181-32_1181-16dup (n.1181-32_1181-16dup) c.548-32_548-16dup (n.548-32_548-16dup) n.288-32_288-16dup c.911-32_911-16dup (n.911-32_911-16dup) | gnomAD v4 |
| X | g.149483235C>T | CA2579719110 | IDS | c.1181-17G>A (n.1181-17G>A) c.548-17G>A (n.548-17G>A) n.288-17G>A c.911-17G>A (n.911-17G>A) | |
| X | g.149483237G>C | CA645127363 | IDS | c.1181-19C>G (n.1181-19C>G) c.548-19C>G (n.548-19C>G) n.288-19C>G c.911-19C>G (n.911-19C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149483237G= | CA2465004097 | IDS | c.1181-19C= (n.1181-19C=) c.548-19C= (n.548-19C=) n.288-19C= c.911-19C= (n.911-19C=) | |
| X | g.149483237G>T | CA2694908960 | IDS | c.1181-19C>A (n.1181-19C>A) c.548-19C>A (n.548-19C>A) n.288-19C>A c.911-19C>A (n.911-19C>A) | gnomAD v4 |
| X | g.149483240C>A | CA1138318598 | IDS | c.1181-22G>T (n.1181-22G>T) c.548-22G>T (n.548-22G>T) n.288-22G>T c.911-22G>T (n.911-22G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.149483240C= | CA2465004098 | IDS | c.1181-22G= (n.1181-22G=) c.548-22G= (n.548-22G=) n.288-22G= c.911-22G= (n.911-22G=) | |
| X | g.149483245T>C | CA2579719111 | IDS | c.1181-27A>G (n.1181-27A>G) c.548-27A>G (n.548-27A>G) n.288-27A>G c.911-27A>G (n.911-27A>G) | |
| X | g.149483246G>A | CA2694908962 | IDS | c.1181-28C>T (n.1181-28C>T) c.548-28C>T (n.548-28C>T) n.288-28C>T c.911-28C>T (n.911-28C>T) | dbSNP gnomAD v4 |
| X | g.149483246G>T | CA2694908961 | IDS | c.1181-28C>A (n.1181-28C>A) c.548-28C>A (n.548-28C>A) n.288-28C>A c.911-28C>A (n.911-28C>A) | gnomAD v4 |
| X | g.149483247G>C | CA872890253 | IDS | c.1181-29C>G (n.1181-29C>G) c.548-29C>G (n.548-29C>G) n.288-29C>G c.911-29C>G (n.911-29C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.149483247G= | CA2465004099 | IDS | c.1181-29C= (n.1181-29C=) c.548-29C= (n.548-29C=) n.288-29C= c.911-29C= (n.911-29C=) | |
| X | g.149483247G>T | CA2534438012 | IDS | c.1181-29C>A (n.1181-29C>A) c.548-29C>A (n.548-29C>A) n.288-29C>A c.911-29C>A (n.911-29C>A) | |
| X | g.149483248G>A | CA10537481 | IDS | c.1181-30C>T (n.1181-30C>T) c.548-30C>T (n.548-30C>T) n.288-30C>T c.911-30C>T (n.911-30C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.149483248G= | CA2465004100 | IDS | c.1181-30C= (n.1181-30C=) c.548-30C= (n.548-30C=) n.288-30C= c.911-30C= (n.911-30C=) | |
| X | g.149483248G>T | CA872890254 | IDS | c.1181-30C>A (n.1181-30C>A) c.548-30C>A (n.548-30C>A) n.288-30C>A c.911-30C>A (n.911-30C>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.149483249T>C | CA2579719112 | IDS | c.1181-31A>G (n.1181-31A>G) c.548-31A>G (n.548-31A>G) n.288-31A>G c.911-31A>G (n.911-31A>G) | gnomAD v4 |
| X | g.149483250del | CA2694908963 | IDS | c.1181-31del (n.1181-31del) c.548-31del (n.548-31del) n.288-31del c.911-31del (n.911-31del) | gnomAD v4 |
| X | g.149483251A>G | CA2824136039 | IDS | c.1181-33T>C (n.1181-33T>C) c.548-33T>C (n.548-33T>C) n.288-33T>C c.911-33T>C (n.911-33T>C) | |
| X | g.149483253A= | CA2465004101 | IDS | c.1181-35T= (n.1181-35T=) c.548-35T= (n.548-35T=) n.288-35T= c.911-35T= (n.911-35T=) | |
| X | g.149483253A>G | CA10537482 | IDS | c.1181-35T>C (n.1181-35T>C) c.548-35T>C (n.548-35T>C) n.288-35T>C c.911-35T>C (n.911-35T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.149483255T>C | CA2694908964 | IDS | c.1181-37A>G (n.1181-37A>G) c.548-37A>G (n.548-37A>G) n.288-37A>G c.911-37A>G (n.911-37A>G) | gnomAD v4 |
| X | g.149483256A>G | CA2694908965 | IDS | c.1181-38T>C (n.1181-38T>C) c.548-38T>C (n.548-38T>C) n.288-38T>C c.911-38T>C (n.911-38T>C) | gnomAD v4 |
| X | g.149483257T>C | CA2694908966 | IDS | c.1181-39A>G (n.1181-39A>G) c.548-39A>G (n.548-39A>G) n.288-39A>G c.911-39A>G (n.911-39A>G) | gnomAD v4 |
| X | g.149483258A>G | CA2579719113 | IDS | c.1181-40T>C (n.1181-40T>C) c.548-40T>C (n.548-40T>C) n.288-40T>C c.911-40T>C (n.911-40T>C) | gnomAD v4 |
| X | g.149483261A>G | CA2694908967 | IDS | c.1181-43T>C (n.1181-43T>C) c.548-43T>C (n.548-43T>C) n.288-43T>C c.911-43T>C (n.911-43T>C) | gnomAD v4 |
| X | g.149483262G= | CA2465004102 | IDS | c.1181-44C= (n.1181-44C=) c.548-44C= (n.548-44C=) n.288-44C= c.911-44C= (n.911-44C=) | |
| X | g.149483262G>T | CA2465004103 | IDS | c.1181-44C>A (n.1181-44C>A) c.548-44C>A (n.548-44C>A) n.288-44C>A c.911-44C>A (n.911-44C>A) | dbSNP |