| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22259631del | CA201242 | ANO5 | c.1070del (p.Phe357SerfsTer6) c.1478del (p.Phe493SerfsTer6) n.2514del c.1475del (p.Phe492SerfsTer6) c.1520del (p.Phe507SerfsTer6) n.1855del c.1517del (p.Phe506SerfsTer6) c.1442del (p.Phe481SerfsTer6) c.1439del (p.Phe480SerfsTer6) c.1427del (p.Phe476SerfsTer6) | ClinVar dbSNP gnomAD v4 |
| 11 | g.22259631T>A | CA379922212 | ANO5 | c.1070T>A (p.Phe357Tyr) c.1478T>A (p.Phe493Tyr) n.2514T>A c.1475T>A (p.Phe492Tyr) c.1520T>A (p.Phe507Tyr) n.1855T>A c.1517T>A (p.Phe506Tyr) c.1442T>A (p.Phe481Tyr) c.1439T>A (p.Phe480Tyr) c.1427T>A (p.Phe476Tyr) | |
| 11 | g.22259631T>C | CA379922211 | ANO5 | c.1070T>C (p.Phe357Ser) c.1478T>C (p.Phe493Ser) n.2514T>C c.1475T>C (p.Phe492Ser) c.1520T>C (p.Phe507Ser) n.1855T>C c.1517T>C (p.Phe506Ser) c.1442T>C (p.Phe481Ser) c.1439T>C (p.Phe480Ser) c.1427T>C (p.Phe476Ser) | COSMIC |
| 11 | g.22259631T>G | CA379922213 | ANO5 | c.1070T>G (p.Phe357Cys) c.1478T>G (p.Phe493Cys) n.2514T>G c.1475T>G (p.Phe492Cys) c.1520T>G (p.Phe507Cys) n.1855T>G c.1517T>G (p.Phe506Cys) c.1442T>G (p.Phe481Cys) c.1439T>G (p.Phe480Cys) c.1427T>G (p.Phe476Cys) | gnomAD v4 |
| 11 | g.22259632C>A | CA379922215 | ANO5 | c.1071C>A (p.Phe357Leu) c.1479C>A (p.Phe493Leu) n.2515C>A c.1476C>A (p.Phe492Leu) c.1521C>A (p.Phe507Leu) n.1856C>A c.1518C>A (p.Phe506Leu) c.1443C>A (p.Phe481Leu) c.1440C>A (p.Phe480Leu) c.1428C>A (p.Phe476Leu) | |
| 11 | g.22259632C>G | CA379922214 | ANO5 | c.1071C>G (p.Phe357Leu) c.1479C>G (p.Phe493Leu) n.2515C>G c.1476C>G (p.Phe492Leu) c.1521C>G (p.Phe507Leu) n.1856C>G c.1518C>G (p.Phe506Leu) c.1443C>G (p.Phe481Leu) c.1440C>G (p.Phe480Leu) c.1428C>G (p.Phe476Leu) | |
| 11 | g.22259632C>T | CA473405069 | ANO5 | c.1071C>T (p.Phe357=) c.1479C>T (p.Phe493=) n.2515C>T c.1476C>T (p.Phe492=) c.1521C>T (p.Phe507=) n.1856C>T c.1518C>T (p.Phe506=) c.1443C>T (p.Phe481=) c.1440C>T (p.Phe480=) c.1428C>T (p.Phe476=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.22259633C>A | CA379922216 | ANO5 | c.1072C>A (p.Leu358Ile) c.1480C>A (p.Leu494Ile) n.2516C>A c.1477C>A (p.Leu493Ile) c.1522C>A (p.Leu508Ile) n.1857C>A c.1519C>A (p.Leu507Ile) c.1444C>A (p.Leu482Ile) c.1441C>A (p.Leu481Ile) c.1429C>A (p.Leu477Ile) | |
| 11 | g.22259633C>G | CA379922217 | ANO5 | c.1072C>G (p.Leu358Val) c.1480C>G (p.Leu494Val) n.2516C>G c.1477C>G (p.Leu493Val) c.1522C>G (p.Leu508Val) n.1857C>G c.1519C>G (p.Leu507Val) c.1444C>G (p.Leu482Val) c.1441C>G (p.Leu481Val) c.1429C>G (p.Leu477Val) | gnomAD v4 |
| 11 | g.22259633C>T | CA379922218 | ANO5 | c.1072C>T (p.Leu358Phe) c.1480C>T (p.Leu494Phe) n.2516C>T c.1477C>T (p.Leu493Phe) c.1522C>T (p.Leu508Phe) n.1857C>T c.1519C>T (p.Leu507Phe) c.1444C>T (p.Leu482Phe) c.1441C>T (p.Leu481Phe) c.1429C>T (p.Leu477Phe) | |
| 11 | g.22259634T>A | CA379922219 | ANO5 | c.1073T>A (p.Leu358His) c.1481T>A (p.Leu494His) n.2517T>A c.1478T>A (p.Leu493His) c.1523T>A (p.Leu508His) n.1858T>A c.1520T>A (p.Leu507His) c.1445T>A (p.Leu482His) c.1442T>A (p.Leu481His) c.1430T>A (p.Leu477His) | |
| 11 | g.22259634T>C | CA379922220 | ANO5 | c.1073T>C (p.Leu358Pro) c.1481T>C (p.Leu494Pro) n.2517T>C c.1478T>C (p.Leu493Pro) c.1523T>C (p.Leu508Pro) n.1858T>C c.1520T>C (p.Leu507Pro) c.1445T>C (p.Leu482Pro) c.1442T>C (p.Leu481Pro) c.1430T>C (p.Leu477Pro) | |
| 11 | g.22259634T>G | CA379922221 | ANO5 | c.1073T>G (p.Leu358Arg) c.1481T>G (p.Leu494Arg) n.2517T>G c.1478T>G (p.Leu493Arg) c.1523T>G (p.Leu508Arg) n.1858T>G c.1520T>G (p.Leu507Arg) c.1445T>G (p.Leu482Arg) c.1442T>G (p.Leu481Arg) c.1430T>G (p.Leu477Arg) | |
| 11 | g.22259635dup | CA2612837721 | ANO5 | c.1074dup (p.Thr359TyrfsTer26) c.1482dup (p.Thr495TyrfsTer26) n.2518dup c.1479dup (p.Thr494TyrfsTer26) c.1524dup (p.Thr509TyrfsTer26) n.1859dup c.1521dup (p.Thr508TyrfsTer26) c.1446dup (p.Thr483TyrfsTer26) c.1443dup (p.Thr482TyrfsTer26) c.1431dup (p.Thr478TyrfsTer26) | gnomAD v4 |
| 11 | g.22259635T>A | CA473405070 | ANO5 | c.1074T>A (p.Leu358=) c.1482T>A (p.Leu494=) n.2518T>A c.1479T>A (p.Leu493=) c.1524T>A (p.Leu508=) n.1859T>A c.1521T>A (p.Leu507=) c.1446T>A (p.Leu482=) c.1443T>A (p.Leu481=) c.1431T>A (p.Leu477=) | |
| 11 | g.22259635T>C | CA473405071 | ANO5 | c.1074T>C (p.Leu358=) c.1482T>C (p.Leu494=) n.2518T>C c.1479T>C (p.Leu493=) c.1524T>C (p.Leu508=) n.1859T>C c.1521T>C (p.Leu507=) c.1446T>C (p.Leu482=) c.1443T>C (p.Leu481=) c.1431T>C (p.Leu477=) | |
| 11 | g.22259635T>G | CA473405072 | ANO5 | c.1074T>G (p.Leu358=) c.1482T>G (p.Leu494=) n.2518T>G c.1479T>G (p.Leu493=) c.1524T>G (p.Leu508=) n.1859T>G c.1521T>G (p.Leu507=) c.1446T>G (p.Leu482=) c.1443T>G (p.Leu481=) c.1431T>G (p.Leu477=) | |
| 11 | g.22259636A= | CA1957418754 | ANO5 | c.1075A= (p.Thr359=) c.1483A= (p.Thr495=) n.2519A= c.1480A= (p.Thr494=) c.1525A= (p.Thr509=) n.1860A= c.1522A= (p.Thr508=) c.1447A= (p.Thr483=) c.1444A= (p.Thr482=) c.1432A= (p.Thr478=) | |
| 11 | g.22259636A>C | CA379922222 | ANO5 | c.1075A>C (p.Thr359Pro) c.1483A>C (p.Thr495Pro) n.2519A>C c.1480A>C (p.Thr494Pro) c.1525A>C (p.Thr509Pro) n.1860A>C c.1522A>C (p.Thr508Pro) c.1447A>C (p.Thr483Pro) c.1444A>C (p.Thr482Pro) c.1432A>C (p.Thr478Pro) | |
| 11 | g.22259636A>G | CA379922223 | ANO5 | c.1075A>G (p.Thr359Ala) c.1483A>G (p.Thr495Ala) n.2519A>G c.1480A>G (p.Thr494Ala) c.1525A>G (p.Thr509Ala) n.1860A>G c.1522A>G (p.Thr508Ala) c.1447A>G (p.Thr483Ala) c.1444A>G (p.Thr482Ala) c.1432A>G (p.Thr478Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.22259636A>T | CA379922224 | ANO5 | c.1075A>T (p.Thr359Ser) c.1483A>T (p.Thr495Ser) n.2519A>T c.1480A>T (p.Thr494Ser) c.1525A>T (p.Thr509Ser) n.1860A>T c.1522A>T (p.Thr508Ser) c.1447A>T (p.Thr483Ser) c.1444A>T (p.Thr482Ser) c.1432A>T (p.Thr478Ser) | |
| 11 | g.22259637C>A | CA379922225 | ANO5 | c.1076C>A (p.Thr359Asn) c.1484C>A (p.Thr495Asn) n.2520C>A c.1481C>A (p.Thr494Asn) c.1526C>A (p.Thr509Asn) n.1861C>A c.1523C>A (p.Thr508Asn) c.1448C>A (p.Thr483Asn) c.1445C>A (p.Thr482Asn) c.1433C>A (p.Thr478Asn) | |
| 11 | g.22259637C>G | CA379922226 | ANO5 | c.1076C>G (p.Thr359Ser) c.1484C>G (p.Thr495Ser) n.2520C>G c.1481C>G (p.Thr494Ser) c.1526C>G (p.Thr509Ser) n.1861C>G c.1523C>G (p.Thr508Ser) c.1448C>G (p.Thr483Ser) c.1445C>G (p.Thr482Ser) c.1433C>G (p.Thr478Ser) | |
| 11 | g.22259637C>T | CA379922227 | ANO5 | c.1076C>T (p.Thr359Ile) c.1484C>T (p.Thr495Ile) n.2520C>T c.1481C>T (p.Thr494Ile) c.1526C>T (p.Thr509Ile) n.1861C>T c.1523C>T (p.Thr508Ile) c.1448C>T (p.Thr483Ile) c.1445C>T (p.Thr482Ile) c.1433C>T (p.Thr478Ile) | |
| 11 | g.22259638T>A | CA473405073 | ANO5 | c.1077T>A (p.Thr359=) c.1485T>A (p.Thr495=) n.2521T>A c.1482T>A (p.Thr494=) c.1527T>A (p.Thr509=) n.1862T>A c.1524T>A (p.Thr508=) c.1449T>A (p.Thr483=) c.1446T>A (p.Thr482=) c.1434T>A (p.Thr478=) | |
| 11 | g.22259638T>C | CA473405074 | ANO5 | c.1077T>C (p.Thr359=) c.1485T>C (p.Thr495=) n.2521T>C c.1482T>C (p.Thr494=) c.1527T>C (p.Thr509=) n.1862T>C c.1524T>C (p.Thr508=) c.1449T>C (p.Thr483=) c.1446T>C (p.Thr482=) c.1434T>C (p.Thr478=) | |
| 11 | g.22259638T>G | CA473405075 | ANO5 | c.1077T>G (p.Thr359=) c.1485T>G (p.Thr495=) n.2521T>G c.1482T>G (p.Thr494=) c.1527T>G (p.Thr509=) n.1862T>G c.1524T>G (p.Thr508=) c.1449T>G (p.Thr483=) c.1446T>G (p.Thr482=) c.1434T>G (p.Thr478=) | |
| 11 | g.22259639C>A | CA379922230 | ANO5 | c.1078C>A (p.Pro360Thr) c.1486C>A (p.Pro496Thr) n.2522C>A c.1483C>A (p.Pro495Thr) c.1528C>A (p.Pro510Thr) n.1863C>A c.1525C>A (p.Pro509Thr) c.1450C>A (p.Pro484Thr) c.1447C>A (p.Pro483Thr) c.1435C>A (p.Pro479Thr) | |
| 11 | g.22259639C>G | CA379922228 | ANO5 | c.1078C>G (p.Pro360Ala) c.1486C>G (p.Pro496Ala) n.2522C>G c.1483C>G (p.Pro495Ala) c.1528C>G (p.Pro510Ala) n.1863C>G c.1525C>G (p.Pro509Ala) c.1450C>G (p.Pro484Ala) c.1447C>G (p.Pro483Ala) c.1435C>G (p.Pro479Ala) | ClinVar gnomAD v4 |
| 11 | g.22259639C>T | CA379922229 | ANO5 | c.1078C>T (p.Pro360Ser) c.1486C>T (p.Pro496Ser) n.2522C>T c.1483C>T (p.Pro495Ser) c.1528C>T (p.Pro510Ser) n.1863C>T c.1525C>T (p.Pro509Ser) c.1450C>T (p.Pro484Ser) c.1447C>T (p.Pro483Ser) c.1435C>T (p.Pro479Ser) | |
| 11 | g.22259640C>A | CA379922231 | ANO5 | c.1079C>A (p.Pro360His) c.1487C>A (p.Pro496His) n.2523C>A c.1484C>A (p.Pro495His) c.1529C>A (p.Pro510His) n.1864C>A c.1526C>A (p.Pro509His) c.1451C>A (p.Pro484His) c.1448C>A (p.Pro483His) c.1436C>A (p.Pro479His) | |
| 11 | g.22259640C>G | CA379922232 | ANO5 | c.1079C>G (p.Pro360Arg) c.1487C>G (p.Pro496Arg) n.2523C>G c.1484C>G (p.Pro495Arg) c.1529C>G (p.Pro510Arg) n.1864C>G c.1526C>G (p.Pro509Arg) c.1451C>G (p.Pro484Arg) c.1448C>G (p.Pro483Arg) c.1436C>G (p.Pro479Arg) | |
| 11 | g.22259640C>T | CA379922233 | ANO5 | c.1079C>T (p.Pro360Leu) c.1487C>T (p.Pro496Leu) n.2523C>T c.1484C>T (p.Pro495Leu) c.1529C>T (p.Pro510Leu) n.1864C>T c.1526C>T (p.Pro509Leu) c.1451C>T (p.Pro484Leu) c.1448C>T (p.Pro483Leu) c.1436C>T (p.Pro479Leu) | |
| 11 | g.22259641T>A | CA473405078 | ANO5 | c.1080T>A (p.Pro360=) c.1488T>A (p.Pro496=) n.2524T>A c.1485T>A (p.Pro495=) c.1530T>A (p.Pro510=) n.1865T>A c.1527T>A (p.Pro509=) c.1452T>A (p.Pro484=) c.1449T>A (p.Pro483=) c.1437T>A (p.Pro479=) | |
| 11 | g.22259641T>C | CA473405077 | ANO5 | c.1080T>C (p.Pro360=) c.1488T>C (p.Pro496=) n.2524T>C c.1485T>C (p.Pro495=) c.1530T>C (p.Pro510=) n.1865T>C c.1527T>C (p.Pro509=) c.1452T>C (p.Pro484=) c.1449T>C (p.Pro483=) c.1437T>C (p.Pro479=) | |
| 11 | g.22259641T>G | CA473405076 | ANO5 | c.1080T>G (p.Pro360=) c.1488T>G (p.Pro496=) n.2524T>G c.1485T>G (p.Pro495=) c.1530T>G (p.Pro510=) n.1865T>G c.1527T>G (p.Pro509=) c.1452T>G (p.Pro484=) c.1449T>G (p.Pro483=) c.1437T>G (p.Pro479=) | |
| 11 | g.22259642C>A | CA379922234 | ANO5 | c.1081C>A (p.Gln361Lys) c.1489C>A (p.Gln497Lys) n.2525C>A c.1486C>A (p.Gln496Lys) c.1531C>A (p.Gln511Lys) n.1866C>A c.1528C>A (p.Gln510Lys) c.1453C>A (p.Gln485Lys) c.1450C>A (p.Gln484Lys) c.1438C>A (p.Gln480Lys) | |
| 11 | g.22259642C= | CA1957418755 | ANO5 | c.1081C= (p.Gln361=) c.1489C= (p.Gln497=) n.2525C= c.1486C= (p.Gln496=) c.1531C= (p.Gln511=) n.1866C= c.1528C= (p.Gln510=) c.1453C= (p.Gln485=) c.1450C= (p.Gln484=) c.1438C= (p.Gln480=) | |
| 11 | g.22259642C>G | CA379922235 | ANO5 | c.1081C>G (p.Gln361Glu) c.1489C>G (p.Gln497Glu) n.2525C>G c.1486C>G (p.Gln496Glu) c.1531C>G (p.Gln511Glu) n.1866C>G c.1528C>G (p.Gln510Glu) c.1453C>G (p.Gln485Glu) c.1450C>G (p.Gln484Glu) c.1438C>G (p.Gln480Glu) | |
| 11 | g.22259642C>T | CA379922236 | ANO5 | c.1081C>T (p.Gln361Ter) c.1489C>T (p.Gln497Ter) n.2525C>T c.1486C>T (p.Gln496Ter) c.1531C>T (p.Gln511Ter) n.1866C>T c.1528C>T (p.Gln510Ter) c.1453C>T (p.Gln485Ter) c.1450C>T (p.Gln484Ter) c.1438C>T (p.Gln480Ter) | ClinVar dbSNP |
| 11 | g.22259643A>C | CA379922237 | ANO5 | c.1082A>C (p.Gln361Pro) c.1490A>C (p.Gln497Pro) n.2526A>C c.1487A>C (p.Gln496Pro) c.1532A>C (p.Gln511Pro) n.1867A>C c.1529A>C (p.Gln510Pro) c.1454A>C (p.Gln485Pro) c.1451A>C (p.Gln484Pro) c.1439A>C (p.Gln480Pro) | |
| 11 | g.22259643A>G | CA379922238 | ANO5 | c.1082A>G (p.Gln361Arg) c.1490A>G (p.Gln497Arg) n.2526A>G c.1487A>G (p.Gln496Arg) c.1532A>G (p.Gln511Arg) n.1867A>G c.1529A>G (p.Gln510Arg) c.1454A>G (p.Gln485Arg) c.1451A>G (p.Gln484Arg) c.1439A>G (p.Gln480Arg) | |
| 11 | g.22259643A>T | CA379922239 | ANO5 | c.1082A>T (p.Gln361Leu) c.1490A>T (p.Gln497Leu) n.2526A>T c.1487A>T (p.Gln496Leu) c.1532A>T (p.Gln511Leu) n.1867A>T c.1529A>T (p.Gln510Leu) c.1454A>T (p.Gln485Leu) c.1451A>T (p.Gln484Leu) c.1439A>T (p.Gln480Leu) | |
| 11 | g.22259644G>A | CA473405079 | ANO5 | c.1083G>A (p.Gln361=) c.1491G>A (p.Gln497=) n.2527G>A c.1488G>A (p.Gln496=) c.1533G>A (p.Gln511=) n.1868G>A c.1530G>A (p.Gln510=) c.1455G>A (p.Gln485=) c.1452G>A (p.Gln484=) c.1440G>A (p.Gln480=) | COSMIC |
| 11 | g.22259644G>C | CA379922240 | ANO5 | c.1083G>C (p.Gln361His) c.1491G>C (p.Gln497His) n.2527G>C c.1488G>C (p.Gln496His) c.1533G>C (p.Gln511His) n.1868G>C c.1530G>C (p.Gln510His) c.1455G>C (p.Gln485His) c.1452G>C (p.Gln484His) c.1440G>C (p.Gln480His) | |
| 11 | g.22259644G>T | CA379922241 | ANO5 | c.1083G>T (p.Gln361His) c.1491G>T (p.Gln497His) n.2527G>T c.1488G>T (p.Gln496His) c.1533G>T (p.Gln511His) n.1868G>T c.1530G>T (p.Gln510His) c.1455G>T (p.Gln485His) c.1452G>T (p.Gln484His) c.1440G>T (p.Gln480His) | |
| 11 | g.22259645A= | CA1957418756 | ANO5 | c.1084A= (p.Ile362=) c.1492A= (p.Ile498=) n.2528A= c.1489A= (p.Ile497=) c.1534A= (p.Ile512=) n.1869A= c.1531A= (p.Ile511=) c.1456A= (p.Ile486=) c.1453A= (p.Ile485=) c.1441A= (p.Ile481=) | |
| 11 | g.22259645A>C | CA379922244 | ANO5 | c.1084A>C (p.Ile362Leu) c.1492A>C (p.Ile498Leu) n.2528A>C c.1489A>C (p.Ile497Leu) c.1534A>C (p.Ile512Leu) n.1869A>C c.1531A>C (p.Ile511Leu) c.1456A>C (p.Ile486Leu) c.1453A>C (p.Ile485Leu) c.1441A>C (p.Ile481Leu) | |
| 11 | g.22259645A>G | CA379922243 | ANO5 | c.1084A>G (p.Ile362Val) c.1492A>G (p.Ile498Val) n.2528A>G c.1489A>G (p.Ile497Val) c.1534A>G (p.Ile512Val) n.1869A>G c.1531A>G (p.Ile511Val) c.1456A>G (p.Ile486Val) c.1453A>G (p.Ile485Val) c.1441A>G (p.Ile481Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.22259645A>T | CA379922242 | ANO5 | c.1084A>T (p.Ile362Leu) c.1492A>T (p.Ile498Leu) n.2528A>T c.1489A>T (p.Ile497Leu) c.1534A>T (p.Ile512Leu) n.1869A>T c.1531A>T (p.Ile511Leu) c.1456A>T (p.Ile486Leu) c.1453A>T (p.Ile485Leu) c.1441A>T (p.Ile481Leu) |