| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.202596773A>C | CA344255621 | SYT2 | c.1244T>G (p.Leu415Arg) c.1253T>G (p.Leu418Arg) c.1424T>G (p.Leu475Arg) c.1415T>G (p.Leu472Arg) | gnomAD v4 |
| 1 | g.202596773A>G | CA344255623 | SYT2 | c.1244T>C (p.Leu415Pro) c.1253T>C (p.Leu418Pro) c.1424T>C (p.Leu475Pro) c.1415T>C (p.Leu472Pro) | |
| 1 | g.202596773A>T | CA344255624 | SYT2 | c.1244T>A (p.Leu415Gln) c.1253T>A (p.Leu418Gln) c.1424T>A (p.Leu475Gln) c.1415T>A (p.Leu472Gln) | |
| 1 | g.202596774G>A | CA422578074 | SYT2 | c.1243C>T (p.Leu415=) c.1252C>T (p.Leu418=) c.1423C>T (p.Leu475=) c.1414C>T (p.Leu472=) | |
| 1 | g.202596774G>C | CA344255626 | SYT2 | c.1243C>G (p.Leu415Val) c.1252C>G (p.Leu418Val) c.1423C>G (p.Leu475Val) c.1414C>G (p.Leu472Val) | |
| 1 | g.202596774G>T | CA344255627 | SYT2 | c.1243C>A (p.Leu415Met) c.1252C>A (p.Leu418Met) c.1423C>A (p.Leu475Met) c.1414C>A (p.Leu472Met) | |
| 1 | g.202596775G>A | CA1333584 | SYT2 | c.1242C>T (p.Leu414=) c.1251C>T (p.Leu417=) c.1422C>T (p.Leu474=) c.1413C>T (p.Leu471=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.202596775G>C | CA422578075 | SYT2 | c.1242C>G (p.Leu414=) c.1251C>G (p.Leu417=) c.1422C>G (p.Leu474=) c.1413C>G (p.Leu471=) | |
| 1 | g.202596775G= | CA2481403109 | SYT2 | c.1242C= (p.Leu414=) c.1251C= (p.Leu417=) c.1422C= (p.Leu474=) c.1413C= (p.Leu471=) | |
| 1 | g.202596775G>T | CA422578076 | SYT2 | c.1242C>A (p.Leu414=) c.1251C>A (p.Leu417=) c.1422C>A (p.Leu474=) c.1413C>A (p.Leu471=) | |
| 1 | g.202596776A>C | CA344255630 | SYT2 | c.1241T>G (p.Leu414Arg) c.1250T>G (p.Leu417Arg) c.1421T>G (p.Leu474Arg) c.1412T>G (p.Leu471Arg) | |
| 1 | g.202596776A>G | CA344255632 | SYT2 | c.1241T>C (p.Leu414Pro) c.1250T>C (p.Leu417Pro) c.1421T>C (p.Leu474Pro) c.1412T>C (p.Leu471Pro) | |
| 1 | g.202596776A>T | CA344255634 | SYT2 | c.1241T>A (p.Leu414His) c.1250T>A (p.Leu417His) c.1421T>A (p.Leu474His) c.1412T>A (p.Leu471His) | |
| 1 | g.202596777G>A | CA344255635 | SYT2 | c.1240C>T (p.Leu414Phe) c.1249C>T (p.Leu417Phe) c.1420C>T (p.Leu474Phe) c.1411C>T (p.Leu471Phe) | |
| 1 | g.202596777G>C | CA344255636 | SYT2 | c.1240C>G (p.Leu414Val) c.1249C>G (p.Leu417Val) c.1420C>G (p.Leu474Val) c.1411C>G (p.Leu471Val) | |
| 1 | g.202596777G= | CA2481403110 | SYT2 | c.1240C= (p.Leu414=) c.1249C= (p.Leu417=) c.1420C= (p.Leu474=) c.1411C= (p.Leu471=) | |
| 1 | g.202596777G>T | CA1333585 | SYT2 | c.1240C>A (p.Leu414Ile) c.1249C>A (p.Leu417Ile) c.1420C>A (p.Leu474Ile) c.1411C>A (p.Leu471Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.202596778T>A | CA422578077 | SYT2 | c.1239A>T (p.Ala413=) c.1248A>T (p.Ala416=) c.1419A>T (p.Ala473=) c.1410A>T (p.Ala470=) | |
| 1 | g.202596778T>C | CA422578078 | SYT2 | c.1239A>G (p.Ala413=) c.1248A>G (p.Ala416=) c.1419A>G (p.Ala473=) c.1410A>G (p.Ala470=) | gnomAD v4 |
| 1 | g.202596778T>G | CA422578079 | SYT2 | c.1239A>C (p.Ala413=) c.1248A>C (p.Ala416=) c.1419A>C (p.Ala473=) c.1410A>C (p.Ala470=) | |
| 1 | g.202596779G>A | CA1333586 | SYT2 | c.1238C>T (p.Ala413Val) c.1247C>T (p.Ala416Val) c.1418C>T (p.Ala473Val) c.1409C>T (p.Ala470Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596779G>C | CA344255639 | SYT2 | c.1238C>G (p.Ala413Gly) c.1247C>G (p.Ala416Gly) c.1418C>G (p.Ala473Gly) c.1409C>G (p.Ala470Gly) | |
| 1 | g.202596779G= | CA1141889976 | SYT2 | c.1238C= (p.Ala413=) c.1247C= (p.Ala416=) c.1418C= (p.Ala473=) c.1409C= (p.Ala470=) | |
| 1 | g.202596779G>T | CA344255638 | SYT2 | c.1238C>A (p.Ala413Glu) c.1247C>A (p.Ala416Glu) c.1418C>A (p.Ala473Glu) c.1409C>A (p.Ala470Glu) | |
| 1 | g.202596780C>A | CA344255640 | SYT2 | c.1237G>T (p.Ala413Ser) c.1246G>T (p.Ala416Ser) c.1417G>T (p.Ala473Ser) c.1408G>T (p.Ala470Ser) | |
| 1 | g.202596780C= | CA2481403111 | SYT2 | c.1237G= (p.Ala413=) c.1246G= (p.Ala416=) c.1417G= (p.Ala473=) c.1408G= (p.Ala470=) | |
| 1 | g.202596780C>G | CA344255642 | SYT2 | c.1237G>C (p.Ala413Pro) c.1246G>C (p.Ala416Pro) c.1417G>C (p.Ala473Pro) c.1408G>C (p.Ala470Pro) | |
| 1 | g.202596780C>T | CA344255641 | SYT2 | c.1237G>A (p.Ala413Thr) c.1246G>A (p.Ala416Thr) c.1417G>A (p.Ala473Thr) c.1408G>A (p.Ala470Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.202596781A>C | CA344255644 | SYT2 | c.1236T>G (p.Asp412Glu) c.1245T>G (p.Asp415Glu) c.1416T>G (p.Asp472Glu) c.1407T>G (p.Asp469Glu) | |
| 1 | g.202596781A>G | CA422578080 | SYT2 | c.1236T>C (p.Asp412=) c.1245T>C (p.Asp415=) c.1416T>C (p.Asp472=) c.1407T>C (p.Asp469=) | |
| 1 | g.202596781A>T | CA344255646 | SYT2 | c.1236T>A (p.Asp412Glu) c.1245T>A (p.Asp415Glu) c.1416T>A (p.Asp472Glu) c.1407T>A (p.Asp469Glu) | |
| 1 | g.202596782T>A | CA344255647 | SYT2 | c.1235A>T (p.Asp412Val) c.1244A>T (p.Asp415Val) c.1415A>T (p.Asp472Val) c.1406A>T (p.Asp469Val) | |
| 1 | g.202596782T>C | CA344255649 | SYT2 | c.1235A>G (p.Asp412Gly) c.1244A>G (p.Asp415Gly) c.1415A>G (p.Asp472Gly) c.1406A>G (p.Asp469Gly) | |
| 1 | g.202596782T>G | CA344255651 | SYT2 | c.1235A>C (p.Asp412Ala) c.1244A>C (p.Asp415Ala) c.1415A>C (p.Asp472Ala) c.1406A>C (p.Asp469Ala) | |
| 1 | g.202596783C>A | CA344255653 | SYT2 | c.1234G>T (p.Asp412Tyr) c.1243G>T (p.Asp415Tyr) c.1414G>T (p.Asp472Tyr) c.1405G>T (p.Asp469Tyr) | |
| 1 | g.202596783C= | CA2481403112 | SYT2 | c.1234G= (p.Asp412=) c.1243G= (p.Asp415=) c.1414G= (p.Asp472=) c.1405G= (p.Asp469=) | |
| 1 | g.202596783C>G | CA344255654 | SYT2 | c.1234G>C (p.Asp412His) c.1243G>C (p.Asp415His) c.1414G>C (p.Asp472His) c.1405G>C (p.Asp469His) | gnomAD v4 |
| 1 | g.202596783C>T | CA344255655 | SYT2 | c.1234G>A (p.Asp412Asn) c.1243G>A (p.Asp415Asn) c.1414G>A (p.Asp472Asn) c.1405G>A (p.Asp469Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.202596784C>A | CA422578081 | SYT2 | c.1233G>T (p.Val411=) c.1242G>T (p.Val414=) c.1413G>T (p.Val471=) c.1404G>T (p.Val468=) | |
| 1 | g.202596784C= | CA1146522622 | SYT2 | c.1233G= (p.Val411=) c.1242G= (p.Val414=) c.1413G= (p.Val471=) c.1404G= (p.Val468=) | |
| 1 | g.202596784C>G | CA422578082 | SYT2 | c.1233G>C (p.Val411=) c.1242G>C (p.Val414=) c.1413G>C (p.Val471=) c.1404G>C (p.Val468=) | gnomAD v4 |
| 1 | g.202596784C>T | CA1333587 | SYT2 | c.1233G>A (p.Val411=) c.1242G>A (p.Val414=) c.1413G>A (p.Val471=) c.1404G>A (p.Val468=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596785A>C | CA344255658 | SYT2 | c.1232T>G (p.Val411Gly) c.1241T>G (p.Val414Gly) c.1412T>G (p.Val471Gly) c.1403T>G (p.Val468Gly) | |
| 1 | g.202596785A>G | CA344255659 | SYT2 | c.1232T>C (p.Val411Ala) c.1241T>C (p.Val414Ala) c.1412T>C (p.Val471Ala) c.1403T>C (p.Val468Ala) | |
| 1 | g.202596785A>T | CA344255660 | SYT2 | c.1232T>A (p.Val411Glu) c.1241T>A (p.Val414Glu) c.1412T>A (p.Val471Glu) c.1403T>A (p.Val468Glu) | |
| 1 | g.202596786C>A | CA344255662 | SYT2 | c.1231G>T (p.Val411Leu) c.1240G>T (p.Val414Leu) c.1411G>T (p.Val471Leu) c.1402G>T (p.Val468Leu) | |
| 1 | g.202596786C>G | CA344255666 | SYT2 | c.1231G>C (p.Val411Leu) c.1240G>C (p.Val414Leu) c.1411G>C (p.Val471Leu) c.1402G>C (p.Val468Leu) | gnomAD v4 |
| 1 | g.202596786C>T | CA344255664 | SYT2 | c.1231G>A (p.Val411Met) c.1240G>A (p.Val414Met) c.1411G>A (p.Val471Met) c.1402G>A (p.Val468Met) | gnomAD v4 |
| 1 | g.202596793_202596795del | CA2649903277 | SYT2 | c.1229_1231del (p.Glu410del) c.1238_1240del (p.Glu413del) c.1409_1411del (p.Glu470del) c.1400_1402del (p.Glu467del) | gnomAD v4 |
| 1 | g.202596787C>A | CA344255667 | SYT2 | c.1230G>T (p.Glu410Asp) c.1239G>T (p.Glu413Asp) c.1410G>T (p.Glu470Asp) c.1401G>T (p.Glu467Asp) | |
| 1 | g.202596787C>G | CA344255669 | SYT2 | c.1230G>C (p.Glu410Asp) c.1239G>C (p.Glu413Asp) c.1410G>C (p.Glu470Asp) c.1401G>C (p.Glu467Asp) | ClinVar |
| 1 | g.202596787C>T | CA422578083 | SYT2 | c.1230G>A (p.Glu410=) c.1239G>A (p.Glu413=) c.1410G>A (p.Glu470=) c.1401G>A (p.Glu467=) | |
| 1 | g.202596788T>A | CA344255671 | SYT2 | c.1229A>T (p.Glu410Val) c.1238A>T (p.Glu413Val) c.1409A>T (p.Glu470Val) c.1400A>T (p.Glu467Val) | |
| 1 | g.202596788T>C | CA344255672 | SYT2 | c.1229A>G (p.Glu410Gly) c.1238A>G (p.Glu413Gly) c.1409A>G (p.Glu470Gly) c.1400A>G (p.Glu467Gly) | |
| 1 | g.202596788T>G | CA344255674 | SYT2 | c.1229A>C (p.Glu410Ala) c.1238A>C (p.Glu413Ala) c.1409A>C (p.Glu470Ala) c.1400A>C (p.Glu467Ala) | |
| 1 | g.202596789C>A | CA344255676 | SYT2 | c.1228G>T (p.Glu410Ter) c.1237G>T (p.Glu413Ter) c.1408G>T (p.Glu470Ter) c.1399G>T (p.Glu467Ter) | |
| 1 | g.202596789C= | CA2481403113 | SYT2 | c.1228G= (p.Glu410=) c.1237G= (p.Glu413=) c.1408G= (p.Glu470=) c.1399G= (p.Glu467=) | |
| 1 | g.202596789C>G | CA344255678 | SYT2 | c.1228G>C (p.Glu410Gln) c.1237G>C (p.Glu413Gln) c.1408G>C (p.Glu470Gln) c.1399G>C (p.Glu467Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.202596789C>T | CA344255679 | SYT2 | c.1228G>A (p.Glu410Lys) c.1237G>A (p.Glu413Lys) c.1408G>A (p.Glu470Lys) c.1399G>A (p.Glu467Lys) | |
| 1 | g.202596790C>A | CA344255681 | SYT2 | c.1227G>T (p.Glu409Asp) c.1236G>T (p.Glu412Asp) c.1407G>T (p.Glu469Asp) c.1398G>T (p.Glu466Asp) | |
| 1 | g.202596790C>G | CA344255683 | SYT2 | c.1227G>C (p.Glu409Asp) c.1236G>C (p.Glu412Asp) c.1407G>C (p.Glu469Asp) c.1398G>C (p.Glu466Asp) | gnomAD v4 |
| 1 | g.202596790C>T | CA422578085 | SYT2 | c.1227G>A (p.Glu409=) c.1236G>A (p.Glu412=) c.1407G>A (p.Glu469=) c.1398G>A (p.Glu466=) | |
| 1 | g.202596791T>A | CA344255687 | SYT2 | c.1226A>T (p.Glu409Val) c.1235A>T (p.Glu412Val) c.1406A>T (p.Glu469Val) c.1397A>T (p.Glu466Val) | |
| 1 | g.202596791T>C | CA344255688 | SYT2 | c.1226A>G (p.Glu409Gly) c.1235A>G (p.Glu412Gly) c.1406A>G (p.Glu469Gly) c.1397A>G (p.Glu466Gly) | |
| 1 | g.202596791T>G | CA344255685 | SYT2 | c.1226A>C (p.Glu409Ala) c.1235A>C (p.Glu412Ala) c.1406A>C (p.Glu469Ala) c.1397A>C (p.Glu466Ala) | |
| 1 | g.202596792C>A | CA344255690 | SYT2 | c.1225G>T (p.Glu409Ter) c.1234G>T (p.Glu412Ter) c.1405G>T (p.Glu469Ter) c.1396G>T (p.Glu466Ter) | |
| 1 | g.202596792C>G | CA344255692 | SYT2 | c.1225G>C (p.Glu409Gln) c.1234G>C (p.Glu412Gln) c.1405G>C (p.Glu469Gln) c.1396G>C (p.Glu466Gln) | |
| 1 | g.202596792C>T | CA344255694 | SYT2 | c.1225G>A (p.Glu409Lys) c.1234G>A (p.Glu412Lys) c.1405G>A (p.Glu469Lys) c.1396G>A (p.Glu466Lys) | |
| 1 | g.202596793C>A | CA344255695 | SYT2 | c.1224G>T (p.Glu408Asp) c.1233G>T (p.Glu411Asp) c.1404G>T (p.Glu468Asp) c.1395G>T (p.Glu465Asp) | |
| 1 | g.202596793C= | CA1148012660 | SYT2 | c.1224G= (p.Glu408=) c.1233G= (p.Glu411=) c.1404G= (p.Glu468=) c.1395G= (p.Glu465=) | |
| 1 | g.202596793C>G | CA344255697 | SYT2 | c.1224G>C (p.Glu408Asp) c.1233G>C (p.Glu411Asp) c.1404G>C (p.Glu468Asp) c.1395G>C (p.Glu465Asp) | |
| 1 | g.202596793C>T | CA1333588 | SYT2 | c.1224G>A (p.Glu408=) c.1233G>A (p.Glu411=) c.1404G>A (p.Glu468=) c.1395G>A (p.Glu465=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596794T>A | CA344255699 | SYT2 | c.1223A>T (p.Glu408Val) c.1232A>T (p.Glu411Val) c.1403A>T (p.Glu468Val) c.1394A>T (p.Glu465Val) | |
| 1 | g.202596794T>C | CA344255700 | SYT2 | c.1223A>G (p.Glu408Gly) c.1232A>G (p.Glu411Gly) c.1403A>G (p.Glu468Gly) c.1394A>G (p.Glu465Gly) | |
| 1 | g.202596794T>G | CA35574995 | SYT2 | c.1223A>C (p.Glu408Ala) c.1232A>C (p.Glu411Ala) c.1403A>C (p.Glu468Ala) c.1394A>C (p.Glu465Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.202596794T= | CA2481403114 | SYT2 | c.1223A= (p.Glu408=) c.1232A= (p.Glu411=) c.1403A= (p.Glu468=) c.1394A= (p.Glu465=) | |
| 1 | g.202596795C>A | CA344255702 | SYT2 | c.1222G>T (p.Glu408Ter) c.1231G>T (p.Glu411Ter) c.1402G>T (p.Glu468Ter) c.1393G>T (p.Glu465Ter) | |
| 1 | g.202596795C>G | CA344255704 | SYT2 | c.1222G>C (p.Glu408Gln) c.1231G>C (p.Glu411Gln) c.1402G>C (p.Glu468Gln) c.1393G>C (p.Glu465Gln) | |
| 1 | g.202596795C>T | CA344255706 | SYT2 | c.1222G>A (p.Glu408Lys) c.1231G>A (p.Glu411Lys) c.1402G>A (p.Glu468Lys) c.1393G>A (p.Glu465Lys) | gnomAD v4 |
| 1 | g.202596796A>C | CA422578090 | SYT2 | c.1221T>G (p.Pro407=) c.1230T>G (p.Pro410=) c.1401T>G (p.Pro467=) c.1392T>G (p.Pro464=) | gnomAD v4 |
| 1 | g.202596796A>G | CA422578091 | SYT2 | c.1221T>C (p.Pro407=) c.1230T>C (p.Pro410=) c.1401T>C (p.Pro467=) c.1392T>C (p.Pro464=) | |
| 1 | g.202596796A>T | CA422578092 | SYT2 | c.1221T>A (p.Pro407=) c.1230T>A (p.Pro410=) c.1401T>A (p.Pro467=) c.1392T>A (p.Pro464=) | |
| 1 | g.202596797G>A | CA344255709 | SYT2 | c.1220C>T (p.Pro407Leu) c.1229C>T (p.Pro410Leu) c.1400C>T (p.Pro467Leu) c.1391C>T (p.Pro464Leu) | |
| 1 | g.202596797G>C | CA344255711 | SYT2 | c.1220C>G (p.Pro407Arg) c.1229C>G (p.Pro410Arg) c.1400C>G (p.Pro467Arg) c.1391C>G (p.Pro464Arg) | |
| 1 | g.202596797G>T | CA344255707 | SYT2 | c.1220C>A (p.Pro407His) c.1229C>A (p.Pro410His) c.1400C>A (p.Pro467His) c.1391C>A (p.Pro464His) | COSMIC |
| 1 | g.202596798G>A | CA1333589 | SYT2 | c.1219C>T (p.Pro407Ser) c.1228C>T (p.Pro410Ser) c.1399C>T (p.Pro467Ser) c.1390C>T (p.Pro464Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596798G>C | CA344255713 | SYT2 | c.1219C>G (p.Pro407Ala) c.1228C>G (p.Pro410Ala) c.1399C>G (p.Pro467Ala) c.1390C>G (p.Pro464Ala) | |
| 1 | g.202596798G= | CA2481403115 | SYT2 | c.1219C= (p.Pro407=) c.1228C= (p.Pro410=) c.1399C= (p.Pro467=) c.1390C= (p.Pro464=) | |
| 1 | g.202596798G>T | CA1333590 | SYT2 | c.1219C>A (p.Pro407Thr) c.1228C>A (p.Pro410Thr) c.1399C>A (p.Pro467Thr) c.1390C>A (p.Pro464Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.202596799C>A | CA344255716 | SYT2 | c.1218G>T (p.Lys406Asn) c.1227G>T (p.Lys409Asn) c.1398G>T (p.Lys466Asn) c.1389G>T (p.Lys463Asn) | |
| 1 | g.202596799C= | CA2481403116 | SYT2 | c.1218G= (p.Lys406=) c.1227G= (p.Lys409=) c.1398G= (p.Lys466=) c.1389G= (p.Lys463=) | |
| 1 | g.202596799C>G | CA344255717 | SYT2 | c.1218G>C (p.Lys406Asn) c.1227G>C (p.Lys409Asn) c.1398G>C (p.Lys466Asn) c.1389G>C (p.Lys463Asn) | |
| 1 | g.202596799C>T | CA35575029 | SYT2 | c.1218G>A (p.Lys406=) c.1227G>A (p.Lys409=) c.1398G>A (p.Lys466=) c.1389G>A (p.Lys463=) | dbSNP |
| 1 | g.202596800T>A | CA344255719 | SYT2 | c.1217A>T (p.Lys406Met) c.1226A>T (p.Lys409Met) c.1397A>T (p.Lys466Met) c.1388A>T (p.Lys463Met) | |
| 1 | g.202596800T>C | CA344255721 | SYT2 | c.1217A>G (p.Lys406Arg) c.1226A>G (p.Lys409Arg) c.1397A>G (p.Lys466Arg) c.1388A>G (p.Lys463Arg) | |
| 1 | g.202596800T>G | CA344255720 | SYT2 | c.1217A>C (p.Lys406Thr) c.1226A>C (p.Lys409Thr) c.1397A>C (p.Lys466Thr) c.1388A>C (p.Lys463Thr) | |
| 1 | g.202596801T>A | CA344255722 | SYT2 | c.1216A>T (p.Lys406Ter) c.1225A>T (p.Lys409Ter) c.1396A>T (p.Lys466Ter) c.1387A>T (p.Lys463Ter) | |
| 1 | g.202596801T>C | CA344255723 | SYT2 | c.1216A>G (p.Lys406Glu) c.1225A>G (p.Lys409Glu) c.1396A>G (p.Lys466Glu) c.1387A>G (p.Lys463Glu) | |
| 1 | g.202596801T>G | CA344255724 | SYT2 | c.1216A>C (p.Lys406Gln) c.1225A>C (p.Lys409Gln) c.1396A>C (p.Lys466Gln) c.1387A>C (p.Lys463Gln) | |
| 1 | g.202596802G>A | CA422578103 | SYT2 | c.1215C>T (p.Leu405=) c.1224C>T (p.Leu408=) c.1395C>T (p.Leu465=) c.1386C>T (p.Leu462=) | |
| 1 | g.202596802G>C | CA1333591 | SYT2 | c.1215C>G (p.Leu405=) c.1224C>G (p.Leu408=) c.1395C>G (p.Leu465=) c.1386C>G (p.Leu462=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596802G= | CA1148731012 | SYT2 | c.1215C= (p.Leu405=) c.1224C= (p.Leu408=) c.1395C= (p.Leu465=) c.1386C= (p.Leu462=) | |
| 1 | g.202596802G>T | CA422578105 | SYT2 | c.1215C>A (p.Leu405=) c.1224C>A (p.Leu408=) c.1395C>A (p.Leu465=) c.1386C>A (p.Leu462=) | |
| 1 | g.202596803A>C | CA344255727 | SYT2 | c.1214T>G (p.Leu405Arg) c.1223T>G (p.Leu408Arg) c.1394T>G (p.Leu465Arg) c.1385T>G (p.Leu462Arg) | |
| 1 | g.202596803A>G | CA344255726 | SYT2 | c.1214T>C (p.Leu405Pro) c.1223T>C (p.Leu408Pro) c.1394T>C (p.Leu465Pro) c.1385T>C (p.Leu462Pro) | |
| 1 | g.202596803A>T | CA344255725 | SYT2 | c.1214T>A (p.Leu405His) c.1223T>A (p.Leu408His) c.1394T>A (p.Leu465His) c.1385T>A (p.Leu462His) | |
| 1 | g.202596804G>A | CA35575036 | SYT2 | c.1213C>T (p.Leu405Phe) c.1222C>T (p.Leu408Phe) c.1393C>T (p.Leu465Phe) c.1384C>T (p.Leu462Phe) | dbSNP |
| 1 | g.202596804G>C | CA344255729 | SYT2 | c.1213C>G (p.Leu405Val) c.1222C>G (p.Leu408Val) c.1393C>G (p.Leu465Val) c.1384C>G (p.Leu462Val) | |
| 1 | g.202596804G= | CA1143635172 | SYT2 | c.1213C= (p.Leu405=) c.1222C= (p.Leu408=) c.1393C= (p.Leu465=) c.1384C= (p.Leu462=) | |
| 1 | g.202596804G>T | CA344255728 | SYT2 | c.1213C>A (p.Leu405Ile) c.1222C>A (p.Leu408Ile) c.1393C>A (p.Leu465Ile) c.1384C>A (p.Leu462Ile) | |
| 1 | g.202596805C>A | CA422578107 | SYT2 | c.1212G>T (p.Ser404=) c.1221G>T (p.Ser407=) c.1392G>T (p.Ser464=) c.1383G>T (p.Ser461=) | gnomAD v4 |
| 1 | g.202596805C= | CA2481403117 | SYT2 | c.1212G= (p.Ser404=) c.1221G= (p.Ser407=) c.1392G= (p.Ser464=) c.1383G= (p.Ser461=) | |
| 1 | g.202596805C>G | CA422578108 | SYT2 | c.1212G>C (p.Ser404=) c.1221G>C (p.Ser407=) c.1392G>C (p.Ser464=) c.1383G>C (p.Ser461=) | gnomAD v4 |
| 1 | g.202596805C>T | CA1333592 | SYT2 | c.1212G>A (p.Ser404=) c.1221G>A (p.Ser407=) c.1392G>A (p.Ser464=) c.1383G>A (p.Ser461=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.202596806G>A | CA344255731 | SYT2 | c.1211C>T (p.Ser404Leu) c.1220C>T (p.Ser407Leu) c.1391C>T (p.Ser464Leu) c.1382C>T (p.Ser461Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.202596806G>C | CA344255730 | SYT2 | c.1211C>G (p.Ser404Trp) c.1220C>G (p.Ser407Trp) c.1391C>G (p.Ser464Trp) c.1382C>G (p.Ser461Trp) | |
| 1 | g.202596806G= | CA2481403118 | SYT2 | c.1211C= (p.Ser404=) c.1220C= (p.Ser407=) c.1391C= (p.Ser464=) c.1382C= (p.Ser461=) | |
| 1 | g.202596806G>T | CA344255732 | SYT2 | c.1211C>A (p.Ser404Ter) c.1220C>A (p.Ser407Ter) c.1391C>A (p.Ser464Ter) c.1382C>A (p.Ser461Ter) | |
| 1 | g.202596807A>C | CA344255733 | SYT2 | c.1210T>G (p.Ser404Ala) c.1219T>G (p.Ser407Ala) c.1390T>G (p.Ser464Ala) c.1381T>G (p.Ser461Ala) | |
| 1 | g.202596807A>G | CA344255734 | SYT2 | c.1210T>C (p.Ser404Pro) c.1219T>C (p.Ser407Pro) c.1390T>C (p.Ser464Pro) c.1381T>C (p.Ser461Pro) | |
| 1 | g.202596807A>T | CA344255735 | SYT2 | c.1210T>A (p.Ser404Thr) c.1219T>A (p.Ser407Thr) c.1390T>A (p.Ser464Thr) c.1381T>A (p.Ser461Thr) | |
| 1 | g.202596808G>A | CA422578110 | SYT2 | c.1209C>T (p.His403=) c.1218C>T (p.His406=) c.1389C>T (p.His463=) c.1380C>T (p.His460=) | gnomAD v4 |
| 1 | g.202596808G>C | CA344255736 | SYT2 | c.1209C>G (p.His403Gln) c.1218C>G (p.His406Gln) c.1389C>G (p.His463Gln) c.1380C>G (p.His460Gln) | |
| 1 | g.202596808G>T | CA344255737 | SYT2 | c.1209C>A (p.His403Gln) c.1218C>A (p.His406Gln) c.1389C>A (p.His463Gln) c.1380C>A (p.His460Gln) | |
| 1 | g.202596809T>A | CA344255738 | SYT2 | c.1208A>T (p.His403Leu) c.1217A>T (p.His406Leu) c.1388A>T (p.His463Leu) c.1379A>T (p.His460Leu) | |
| 1 | g.202596809T>C | CA344255739 | SYT2 | c.1208A>G (p.His403Arg) c.1217A>G (p.His406Arg) c.1388A>G (p.His463Arg) c.1379A>G (p.His460Arg) | |
| 1 | g.202596809T>G | CA344255740 | SYT2 | c.1208A>C (p.His403Pro) c.1217A>C (p.His406Pro) c.1388A>C (p.His463Pro) c.1379A>C (p.His460Pro) | |
| 1 | g.202596810G>A | CA344255742 | SYT2 | c.1207C>T (p.His403Tyr) c.1216C>T (p.His406Tyr) c.1387C>T (p.His463Tyr) c.1378C>T (p.His460Tyr) | |
| 1 | g.202596810G>C | CA344255743 | SYT2 | c.1207C>G (p.His403Asp) c.1216C>G (p.His406Asp) c.1387C>G (p.His463Asp) c.1378C>G (p.His460Asp) | |
| 1 | g.202596810G>T | CA344255744 | SYT2 | c.1207C>A (p.His403Asn) c.1216C>A (p.His406Asn) c.1387C>A (p.His463Asn) c.1378C>A (p.His460Asn) | |
| 1 | g.202596811C>A | CA344255747 | SYT2 | c.1206G>T (p.Trp402Cys) c.1215G>T (p.Trp405Cys) c.1386G>T (p.Trp462Cys) c.1377G>T (p.Trp459Cys) | |
| 1 | g.202596811C>G | CA344255746 | SYT2 | c.1206G>C (p.Trp402Cys) c.1215G>C (p.Trp405Cys) c.1386G>C (p.Trp462Cys) c.1377G>C (p.Trp459Cys) | |
| 1 | g.202596811C>T | CA344255745 | SYT2 | c.1206G>A (p.Trp402Ter) c.1215G>A (p.Trp405Ter) c.1386G>A (p.Trp462Ter) c.1377G>A (p.Trp459Ter) | |
| 1 | g.202596812C>A | CA344255748 | SYT2 | c.1205G>T (p.Trp402Leu) c.1214G>T (p.Trp405Leu) c.1385G>T (p.Trp462Leu) c.1376G>T (p.Trp459Leu) | |
| 1 | g.202596812C>G | CA344255749 | SYT2 | c.1205G>C (p.Trp402Ser) c.1214G>C (p.Trp405Ser) c.1385G>C (p.Trp462Ser) c.1376G>C (p.Trp459Ser) | |
| 1 | g.202596812C>T | CA344255750 | SYT2 | c.1205G>A (p.Trp402Ter) c.1214G>A (p.Trp405Ter) c.1385G>A (p.Trp462Ter) c.1376G>A (p.Trp459Ter) | |
| 1 | g.202596813A= | CA2481403119 | SYT2 | c.1204T= (p.Trp402=) c.1213T= (p.Trp405=) c.1384T= (p.Trp462=) c.1375T= (p.Trp459=) | |
| 1 | g.202596813A>C | CA344255751 | SYT2 | c.1204T>G (p.Trp402Gly) c.1213T>G (p.Trp405Gly) c.1384T>G (p.Trp462Gly) c.1375T>G (p.Trp459Gly) | dbSNP gnomAD v4 |
| 1 | g.202596813A>G | CA344255752 | SYT2 | c.1204T>C (p.Trp402Arg) c.1213T>C (p.Trp405Arg) c.1384T>C (p.Trp462Arg) c.1375T>C (p.Trp459Arg) | |
| 1 | g.202596813A>T | CA344255753 | SYT2 | c.1204T>A (p.Trp402Arg) c.1213T>A (p.Trp405Arg) c.1384T>A (p.Trp462Arg) c.1375T>A (p.Trp459Arg) | |
| 1 | g.202596814C>A | CA344255754 | SYT2 | c.1203G>T (p.Gln401His) c.1212G>T (p.Gln404His) c.1383G>T (p.Gln461His) c.1374G>T (p.Gln458His) | |
| 1 | g.202596814C>G | CA344255755 | SYT2 | c.1203G>C (p.Gln401His) c.1212G>C (p.Gln404His) c.1383G>C (p.Gln461His) c.1374G>C (p.Gln458His) | |
| 1 | g.202596814C>T | CA422578112 | SYT2 | c.1203G>A (p.Gln401=) c.1212G>A (p.Gln404=) c.1383G>A (p.Gln461=) c.1374G>A (p.Gln458=) | gnomAD v4 |
| 1 | g.202596815T>A | CA344255756 | SYT2 | c.1202A>T (p.Gln401Leu) c.1211A>T (p.Gln404Leu) c.1382A>T (p.Gln461Leu) c.1373A>T (p.Gln458Leu) | |
| 1 | g.202596815T>C | CA1333593 | SYT2 | c.1202A>G (p.Gln401Arg) c.1211A>G (p.Gln404Arg) c.1382A>G (p.Gln461Arg) c.1373A>G (p.Gln458Arg) | dbSNP ExAC gnomAD v2 |
| 1 | g.202596815T>G | CA344255757 | SYT2 | c.1202A>C (p.Gln401Pro) c.1211A>C (p.Gln404Pro) c.1382A>C (p.Gln461Pro) c.1373A>C (p.Gln458Pro) | |
| 1 | g.202596815T= | CA2481403120 | SYT2 | c.1202A= (p.Gln401=) c.1211A= (p.Gln404=) c.1382A= (p.Gln461=) c.1373A= (p.Gln458=) | |
| 1 | g.202596816G>A | CA344255760 | SYT2 | c.1201C>T (p.Gln401Ter) c.1210C>T (p.Gln404Ter) c.1381C>T (p.Gln461Ter) c.1372C>T (p.Gln458Ter) | |
| 1 | g.202596816G>C | CA344255759 | SYT2 | c.1201C>G (p.Gln401Glu) c.1210C>G (p.Gln404Glu) c.1381C>G (p.Gln461Glu) c.1372C>G (p.Gln458Glu) | gnomAD v4 |
| 1 | g.202596816G>T | CA344255758 | SYT2 | c.1201C>A (p.Gln401Lys) c.1210C>A (p.Gln404Lys) c.1381C>A (p.Gln461Lys) c.1372C>A (p.Gln458Lys) | |
| 1 | g.202596817G>A | CA422578113 | SYT2 | c.1200C>T (p.Ala400=) c.1209C>T (p.Ala403=) c.1380C>T (p.Ala460=) c.1371C>T (p.Ala457=) | |
| 1 | g.202596817G>C | CA422578114 | SYT2 | c.1200C>G (p.Ala400=) c.1209C>G (p.Ala403=) c.1380C>G (p.Ala460=) c.1371C>G (p.Ala457=) | |
| 1 | g.202596817G>T | CA422578115 | SYT2 | c.1200C>A (p.Ala400=) c.1209C>A (p.Ala403=) c.1380C>A (p.Ala460=) c.1371C>A (p.Ala457=) | |
| 1 | g.202596818G>A | CA344255761 | SYT2 | c.1199C>T (p.Ala400Val) c.1208C>T (p.Ala403Val) c.1379C>T (p.Ala460Val) c.1370C>T (p.Ala457Val) | gnomAD v4 |
| 1 | g.202596818G>C | CA344255762 | SYT2 | c.1199C>G (p.Ala400Gly) c.1208C>G (p.Ala403Gly) c.1379C>G (p.Ala460Gly) c.1370C>G (p.Ala457Gly) | |
| 1 | g.202596818G>T | CA344255763 | SYT2 | c.1199C>A (p.Ala400Asp) c.1208C>A (p.Ala403Asp) c.1379C>A (p.Ala460Asp) c.1370C>A (p.Ala457Asp) | |
| 1 | g.202596819C>A | CA344255764 | SYT2 | c.1198G>T (p.Ala400Ser) c.1207G>T (p.Ala403Ser) c.1378G>T (p.Ala460Ser) c.1369G>T (p.Ala457Ser) | |
| 1 | g.202596819C= | CA2481403121 | SYT2 | c.1198G= (p.Ala400=) c.1207G= (p.Ala403=) c.1378G= (p.Ala460=) c.1369G= (p.Ala457=) | |
| 1 | g.202596819C>G | CA344255765 | SYT2 | c.1198G>C (p.Ala400Pro) c.1207G>C (p.Ala403Pro) c.1378G>C (p.Ala460Pro) c.1369G>C (p.Ala457Pro) | |
| 1 | g.202596819C>T | CA344255766 | SYT2 | c.1198G>A (p.Ala400Thr) c.1207G>A (p.Ala403Thr) c.1378G>A (p.Ala460Thr) c.1369G>A (p.Ala457Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.202596820G>A | CA1333594 | SYT2 | c.1197C>T (p.Ile399=) c.1206C>T (p.Ile402=) c.1377C>T (p.Ile459=) c.1368C>T (p.Ile456=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596820G>C | CA344255767 | SYT2 | c.1197C>G (p.Ile399Met) c.1206C>G (p.Ile402Met) c.1377C>G (p.Ile459Met) c.1368C>G (p.Ile456Met) | |
| 1 | g.202596820G= | CA1139801908 | SYT2 | c.1197C= (p.Ile399=) c.1206C= (p.Ile402=) c.1377C= (p.Ile459=) c.1368C= (p.Ile456=) | |
| 1 | g.202596820G>T | CA422578116 | SYT2 | c.1197C>A (p.Ile399=) c.1206C>A (p.Ile402=) c.1377C>A (p.Ile459=) c.1368C>A (p.Ile456=) | |
| 1 | g.202596821A>C | CA344255768 | SYT2 | c.1196T>G (p.Ile399Ser) c.1205T>G (p.Ile402Ser) c.1376T>G (p.Ile459Ser) c.1367T>G (p.Ile456Ser) | |
| 1 | g.202596821A>G | CA344255769 | SYT2 | c.1196T>C (p.Ile399Thr) c.1205T>C (p.Ile402Thr) c.1376T>C (p.Ile459Thr) c.1367T>C (p.Ile456Thr) | |
| 1 | g.202596821A>T | CA344255770 | SYT2 | c.1196T>A (p.Ile399Asn) c.1205T>A (p.Ile402Asn) c.1376T>A (p.Ile459Asn) c.1367T>A (p.Ile456Asn) | |
| 1 | g.202596822T>A | CA344255773 | SYT2 | c.1195A>T (p.Ile399Phe) c.1204A>T (p.Ile402Phe) c.1375A>T (p.Ile459Phe) c.1366A>T (p.Ile456Phe) | |
| 1 | g.202596822T>C | CA344255772 | SYT2 | c.1195A>G (p.Ile399Val) c.1204A>G (p.Ile402Val) c.1375A>G (p.Ile459Val) c.1366A>G (p.Ile456Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.202596822T>G | CA344255771 | SYT2 | c.1195A>C (p.Ile399Leu) c.1204A>C (p.Ile402Leu) c.1375A>C (p.Ile459Leu) c.1366A>C (p.Ile456Leu) | |
| 1 | g.202596822T= | CA2481403122 | SYT2 | c.1195A= (p.Ile399=) c.1204A= (p.Ile402=) c.1375A= (p.Ile459=) c.1366A= (p.Ile456=) | |
| 1 | g.202596822_202596834delinsTGGGCCTCCGGGG | CA2481403123 | SYT2 | c.1183_1195delinsCCCCGGAGGCCCA (p.Pro395=) c.1192_1204delinsCCCCGGAGGCCCA (p.Pro398=) c.1363_1375delinsCCCCGGAGGCCCA (p.Pro455=) c.1354_1366delinsCCCCGGAGGCCCA (p.Pro452=) | |
| 1 | g.202596823G>A | CA422578118 | SYT2 | c.1194C>T (p.Pro398=) c.1203C>T (p.Pro401=) c.1374C>T (p.Pro458=) c.1365C>T (p.Pro455=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.202596823G>C | CA422578119 | SYT2 | c.1194C>G (p.Pro398=) c.1203C>G (p.Pro401=) c.1374C>G (p.Pro458=) c.1365C>G (p.Pro455=) | |
| 1 | g.202596823G= | CA2481403124 | SYT2 | c.1194C= (p.Pro398=) c.1203C= (p.Pro401=) c.1374C= (p.Pro458=) c.1365C= (p.Pro455=) | |
| 1 | g.202596823G>T | CA422578120 | SYT2 | c.1194C>A (p.Pro398=) c.1203C>A (p.Pro401=) c.1374C>A (p.Pro458=) c.1365C>A (p.Pro455=) | |
| 1 | g.202596824_202596835del | CA528129031 | SYT2 | c.1183_1194del (p.Pro395_Pro398del) c.1192_1203del (p.Pro398_Pro401del) c.1363_1374del (p.Pro455_Pro458del) c.1354_1365del (p.Pro452_Pro455del) | dbSNP gnomAD v2 |
| 1 | g.202596824G>A | CA344255774 | SYT2 | c.1193C>T (p.Pro398Leu) c.1202C>T (p.Pro401Leu) c.1373C>T (p.Pro458Leu) c.1364C>T (p.Pro455Leu) | |
| 1 | g.202596824G>C | CA344255775 | SYT2 | c.1193C>G (p.Pro398Arg) c.1202C>G (p.Pro401Arg) c.1373C>G (p.Pro458Arg) c.1364C>G (p.Pro455Arg) | |
| 1 | g.202596824G>T | CA344255776 | SYT2 | c.1193C>A (p.Pro398His) c.1202C>A (p.Pro401His) c.1373C>A (p.Pro458His) c.1364C>A (p.Pro455His) | |
| 1 | g.202596825G>A | CA344255777 | SYT2 | c.1192C>T (p.Pro398Ser) c.1201C>T (p.Pro401Ser) c.1372C>T (p.Pro458Ser) c.1363C>T (p.Pro455Ser) | |
| 1 | g.202596825G>C | CA344255778 | SYT2 | c.1192C>G (p.Pro398Ala) c.1201C>G (p.Pro401Ala) c.1372C>G (p.Pro458Ala) c.1363C>G (p.Pro455Ala) | |
| 1 | g.202596825G>T | CA344255779 | SYT2 | c.1192C>A (p.Pro398Thr) c.1201C>A (p.Pro401Thr) c.1372C>A (p.Pro458Thr) c.1363C>A (p.Pro455Thr) | |
| 1 | g.202596826C>A | CA344255780 | SYT2 | c.1191G>T (p.Arg397Ser) c.1200G>T (p.Arg400Ser) c.1371G>T (p.Arg457Ser) c.1362G>T (p.Arg454Ser) | |
| 1 | g.202596826C>G | CA344255781 | SYT2 | c.1191G>C (p.Arg397Ser) c.1200G>C (p.Arg400Ser) c.1371G>C (p.Arg457Ser) c.1362G>C (p.Arg454Ser) | |
| 1 | g.202596826C>T | CA422578122 | SYT2 | c.1191G>A (p.Arg397=) c.1200G>A (p.Arg400=) c.1371G>A (p.Arg457=) c.1362G>A (p.Arg454=) | |
| 1 | g.202596827del | CA2499214409 | SYT2 | c.1191del (p.Arg397SerfsTer?) c.1200del (p.Arg400SerfsTer?) c.1371del (p.Arg457SerfsTer?) c.1362del (p.Arg454SerfsTer?) | ClinVar dbSNP |
| 1 | g.202596827C>A | CA344255782 | SYT2 | c.1190G>T (p.Arg397Met) c.1199G>T (p.Arg400Met) c.1370G>T (p.Arg457Met) c.1361G>T (p.Arg454Met) | |
| 1 | g.202596827C>G | CA344255783 | SYT2 | c.1190G>C (p.Arg397Thr) c.1199G>C (p.Arg400Thr) c.1370G>C (p.Arg457Thr) c.1361G>C (p.Arg454Thr) | |
| 1 | g.202596827C>T | CA344255784 | SYT2 | c.1190G>A (p.Arg397Lys) c.1199G>A (p.Arg400Lys) c.1370G>A (p.Arg457Lys) c.1361G>A (p.Arg454Lys) | |
| 1 | g.202596828T>A | CA344255785 | SYT2 | c.1189A>T (p.Arg397Trp) c.1198A>T (p.Arg400Trp) c.1369A>T (p.Arg457Trp) c.1360A>T (p.Arg454Trp) | |
| 1 | g.202596828T>C | CA35575086 | SYT2 | c.1189A>G (p.Arg397Gly) c.1198A>G (p.Arg400Gly) c.1369A>G (p.Arg457Gly) c.1360A>G (p.Arg454Gly) | dbSNP |
| 1 | g.202596828T>G | CA422578124 | SYT2 | c.1189A>C (p.Arg397=) c.1198A>C (p.Arg400=) c.1369A>C (p.Arg457=) c.1360A>C (p.Arg454=) | |
| 1 | g.202596828T= | CA2481403125 | SYT2 | c.1189A= (p.Arg397=) c.1198A= (p.Arg400=) c.1369A= (p.Arg457=) c.1360A= (p.Arg454=) | |
| 1 | g.202596829C>A | CA422578126 | SYT2 | c.1188G>T (p.Arg396=) c.1197G>T (p.Arg399=) c.1368G>T (p.Arg456=) c.1359G>T (p.Arg453=) | |
| 1 | g.202596829C>G | CA422578128 | SYT2 | c.1188G>C (p.Arg396=) c.1197G>C (p.Arg399=) c.1368G>C (p.Arg456=) c.1359G>C (p.Arg453=) | |
| 1 | g.202596829C>T | CA422578129 | SYT2 | c.1188G>A (p.Arg396=) c.1197G>A (p.Arg399=) c.1368G>A (p.Arg456=) c.1359G>A (p.Arg453=) | |
| 1 | g.202596830C>A | CA344255786 | SYT2 | c.1187G>T (p.Arg396Leu) c.1196G>T (p.Arg399Leu) c.1367G>T (p.Arg456Leu) c.1358G>T (p.Arg453Leu) | |
| 1 | g.202596830C= | CA2481403126 | SYT2 | c.1187G= (p.Arg396=) c.1196G= (p.Arg399=) c.1367G= (p.Arg456=) c.1358G= (p.Arg453=) | |
| 1 | g.202596830C>G | CA344255787 | SYT2 | c.1187G>C (p.Arg396Pro) c.1196G>C (p.Arg399Pro) c.1367G>C (p.Arg456Pro) c.1358G>C (p.Arg453Pro) | |
| 1 | g.202596830C>T | CA35575090 | SYT2 | c.1187G>A (p.Arg396Gln) c.1196G>A (p.Arg399Gln) c.1367G>A (p.Arg456Gln) c.1358G>A (p.Arg453Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.202596831G>A | CA1333595 | SYT2 | c.1186C>T (p.Arg396Trp) c.1195C>T (p.Arg399Trp) c.1366C>T (p.Arg456Trp) c.1357C>T (p.Arg453Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.202596831G>C | CA344255788 | SYT2 | c.1186C>G (p.Arg396Gly) c.1195C>G (p.Arg399Gly) c.1366C>G (p.Arg456Gly) c.1357C>G (p.Arg453Gly) | |
| 1 | g.202596831G= | CA2481403127 | SYT2 | c.1186C= (p.Arg396=) c.1195C= (p.Arg399=) c.1366C= (p.Arg456=) c.1357C= (p.Arg453=) | |
| 1 | g.202596831G>T | CA422578130 | SYT2 | c.1186C>A (p.Arg396=) c.1195C>A (p.Arg399=) c.1366C>A (p.Arg456=) c.1357C>A (p.Arg453=) | |
| 1 | g.202596832G>A | CA422578131 | SYT2 | c.1185C>T (p.Pro395=) c.1194C>T (p.Pro398=) c.1365C>T (p.Pro455=) c.1356C>T (p.Pro452=) | |
| 1 | g.202596832G>C | CA422578132 | SYT2 | c.1185C>G (p.Pro395=) c.1194C>G (p.Pro398=) c.1365C>G (p.Pro455=) c.1356C>G (p.Pro452=) | |
| 1 | g.202596832G>T | CA422578133 | SYT2 | c.1185C>A (p.Pro395=) c.1194C>A (p.Pro398=) c.1365C>A (p.Pro455=) c.1356C>A (p.Pro452=) | |
| 1 | g.202596833G>A | CA344255789 | SYT2 | c.1184C>T (p.Pro395Leu) c.1193C>T (p.Pro398Leu) c.1364C>T (p.Pro455Leu) c.1355C>T (p.Pro452Leu) | gnomAD v4 |
| 1 | g.202596833G>C | CA344255790 | SYT2 | c.1184C>G (p.Pro395Arg) c.1193C>G (p.Pro398Arg) c.1364C>G (p.Pro455Arg) c.1355C>G (p.Pro452Arg) | |
| 1 | g.202596833G>T | CA344255791 | SYT2 | c.1184C>A (p.Pro395His) c.1193C>A (p.Pro398His) c.1364C>A (p.Pro455His) c.1355C>A (p.Pro452His) | |
| 1 | g.202596834G>A | CA344255792 | SYT2 | c.1183C>T (p.Pro395Ser) c.1192C>T (p.Pro398Ser) c.1363C>T (p.Pro455Ser) c.1354C>T (p.Pro452Ser) | gnomAD v4 |
| 1 | g.202596834G>C | CA344255793 | SYT2 | c.1183C>G (p.Pro395Ala) c.1192C>G (p.Pro398Ala) c.1363C>G (p.Pro455Ala) c.1354C>G (p.Pro452Ala) | |
| 1 | g.202596834G= | CA2481403128 | SYT2 | c.1183C= (p.Pro395=) c.1192C= (p.Pro398=) c.1363C= (p.Pro455=) c.1354C= (p.Pro452=) | |
| 1 | g.202596834G>T | CA1333596 | SYT2 | c.1183C>A (p.Pro395Thr) c.1192C>A (p.Pro398Thr) c.1363C>A (p.Pro455Thr) c.1354C>A (p.Pro452Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.202596835G>A | CA422578134 | SYT2 | c.1182C>T (p.Asn394=) c.1191C>T (p.Asn397=) c.1362C>T (p.Asn454=) c.1353C>T (p.Asn451=) | dbSNP gnomAD v4 |
| 1 | g.202596835G>C | CA344255794 | SYT2 | c.1182C>G (p.Asn394Lys) c.1191C>G (p.Asn397Lys) c.1362C>G (p.Asn454Lys) c.1353C>G (p.Asn451Lys) | |
| 1 | g.202596835G= | CA2481403129 | SYT2 | c.1182C= (p.Asn394=) c.1191C= (p.Asn397=) c.1362C= (p.Asn454=) c.1353C= (p.Asn451=) | |
| 1 | g.202596835G>T | CA344255795 | SYT2 | c.1182C>A (p.Asn394Lys) c.1191C>A (p.Asn397Lys) c.1362C>A (p.Asn454Lys) c.1353C>A (p.Asn451Lys) | |
| 1 | g.202596836T>A | CA344255796 | SYT2 | c.1181A>T (p.Asn394Ile) c.1190A>T (p.Asn397Ile) c.1361A>T (p.Asn454Ile) c.1352A>T (p.Asn451Ile) | |
| 1 | g.202596836T>C | CA344255797 | SYT2 | c.1181A>G (p.Asn394Ser) c.1190A>G (p.Asn397Ser) c.1361A>G (p.Asn454Ser) c.1352A>G (p.Asn451Ser) | COSMIC |
| 1 | g.202596836T>G | CA344255798 | SYT2 | c.1181A>C (p.Asn394Thr) c.1190A>C (p.Asn397Thr) c.1361A>C (p.Asn454Thr) c.1352A>C (p.Asn451Thr) | |
| 1 | g.202596837T>A | CA344255801 | SYT2 | c.1180A>T (p.Asn394Tyr) c.1189A>T (p.Asn397Tyr) c.1360A>T (p.Asn454Tyr) c.1351A>T (p.Asn451Tyr) | |
| 1 | g.202596837T>C | CA344255799 | SYT2 | c.1180A>G (p.Asn394Asp) c.1189A>G (p.Asn397Asp) c.1360A>G (p.Asn454Asp) c.1351A>G (p.Asn451Asp) | |
| 1 | g.202596837T>G | CA344255800 | SYT2 | c.1180A>C (p.Asn394His) c.1189A>C (p.Asn397His) c.1360A>C (p.Asn454His) c.1351A>C (p.Asn451His) | dbSNP |
| 1 | g.202596837T= | CA2481403130 | SYT2 | c.1180A= (p.Asn394=) c.1189A= (p.Asn397=) c.1360A= (p.Asn454=) c.1351A= (p.Asn451=) | |
| 1 | g.202596838G>A | CA422578135 | SYT2 | c.1179C>T (p.Ala393=) c.1188C>T (p.Ala396=) c.1359C>T (p.Ala453=) c.1350C>T (p.Ala450=) | |
| 1 | g.202596838G>C | CA422578136 | SYT2 | c.1179C>G (p.Ala393=) c.1188C>G (p.Ala396=) c.1359C>G (p.Ala453=) c.1350C>G (p.Ala450=) | |
| 1 | g.202596838G>T | CA422578137 | SYT2 | c.1179C>A (p.Ala393=) c.1188C>A (p.Ala396=) c.1359C>A (p.Ala453=) c.1350C>A (p.Ala450=) | |
| 1 | g.202596839G>A | CA344255802 | SYT2 | c.1178C>T (p.Ala393Val) c.1187C>T (p.Ala396Val) c.1358C>T (p.Ala453Val) c.1349C>T (p.Ala450Val) | gnomAD v4 |
| 1 | g.202596839G>C | CA344255803 | SYT2 | c.1178C>G (p.Ala393Gly) c.1187C>G (p.Ala396Gly) c.1358C>G (p.Ala453Gly) c.1349C>G (p.Ala450Gly) | |
| 1 | g.202596839G>T | CA344255804 | SYT2 | c.1178C>A (p.Ala393Asp) c.1187C>A (p.Ala396Asp) c.1358C>A (p.Ala453Asp) c.1349C>A (p.Ala450Asp) | |
| 1 | g.202596840C>A | CA344255805 | SYT2 | c.1177G>T (p.Ala393Ser) c.1186G>T (p.Ala396Ser) c.1357G>T (p.Ala453Ser) c.1348G>T (p.Ala450Ser) | |
| 1 | g.202596840C>G | CA344255806 | SYT2 | c.1177G>C (p.Ala393Pro) c.1186G>C (p.Ala396Pro) c.1357G>C (p.Ala453Pro) c.1348G>C (p.Ala450Pro) | |
| 1 | g.202596840C>T | CA344255807 | SYT2 | c.1177G>A (p.Ala393Thr) c.1186G>A (p.Ala396Thr) c.1357G>A (p.Ala453Thr) c.1348G>A (p.Ala450Thr) | gnomAD v4 |
| 1 | g.202596841C>A | CA422578138 | SYT2 | c.1176G>T (p.Leu392=) c.1185G>T (p.Leu395=) c.1356G>T (p.Leu452=) c.1347G>T (p.Leu449=) | |
| 1 | g.202596841C>G | CA422578139 | SYT2 | c.1176G>C (p.Leu392=) c.1185G>C (p.Leu395=) c.1356G>C (p.Leu452=) c.1347G>C (p.Leu449=) | |
| 1 | g.202596841C>T | CA422578140 | SYT2 | c.1176G>A (p.Leu392=) c.1185G>A (p.Leu395=) c.1356G>A (p.Leu452=) c.1347G>A (p.Leu449=) | |
| 1 | g.202596842A>C | CA344255808 | SYT2 | c.1175T>G (p.Leu392Arg) c.1184T>G (p.Leu395Arg) c.1355T>G (p.Leu452Arg) c.1346T>G (p.Leu449Arg) | |
| 1 | g.202596842A>G | CA344255809 | SYT2 | c.1175T>C (p.Leu392Pro) c.1184T>C (p.Leu395Pro) c.1355T>C (p.Leu452Pro) c.1346T>C (p.Leu449Pro) | |
| 1 | g.202596842A>T | CA344255810 | SYT2 | c.1175T>A (p.Leu392Gln) c.1184T>A (p.Leu395Gln) c.1355T>A (p.Leu452Gln) c.1346T>A (p.Leu449Gln) | gnomAD v4 |
| 1 | g.202596843G>A | CA1333597 | SYT2 | c.1174C>T (p.Leu392=) c.1183C>T (p.Leu395=) c.1354C>T (p.Leu452=) c.1345C>T (p.Leu449=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.202596843G>C | CA344255811 | SYT2 | c.1174C>G (p.Leu392Val) c.1183C>G (p.Leu395Val) c.1354C>G (p.Leu452Val) c.1345C>G (p.Leu449Val) | |
| 1 | g.202596843G= | CA2481403131 | SYT2 | c.1174C= (p.Leu392=) c.1183C= (p.Leu395=) c.1354C= (p.Leu452=) c.1345C= (p.Leu449=) | |
| 1 | g.202596843G>T | CA35575129 | SYT2 | c.1174C>A (p.Leu392Met) c.1183C>A (p.Leu395Met) c.1354C>A (p.Leu452Met) c.1345C>A (p.Leu449Met) | dbSNP |
| 1 | g.202596844C>A | CA344255813 | SYT2 | c.1173G>T (p.Met391Ile) c.1182G>T (p.Met394Ile) c.1353G>T (p.Met451Ile) c.1344G>T (p.Met448Ile) | |
| 1 | g.202596844C>G | CA344255814 | SYT2 | c.1173G>C (p.Met391Ile) c.1182G>C (p.Met394Ile) c.1353G>C (p.Met451Ile) c.1344G>C (p.Met448Ile) | |
| 1 | g.202596844C>T | CA344255812 | SYT2 | c.1173G>A (p.Met391Ile) c.1182G>A (p.Met394Ile) c.1353G>A (p.Met451Ile) c.1344G>A (p.Met448Ile) | |
| 1 | g.202596845A= | CA2481403132 | SYT2 | c.1172T= (p.Met391=) c.1181T= (p.Met394=) c.1352T= (p.Met451=) c.1343T= (p.Met448=) | |
| 1 | g.202596845A>C | CA344255815 | SYT2 | c.1172T>G (p.Met391Arg) c.1181T>G (p.Met394Arg) c.1352T>G (p.Met451Arg) c.1343T>G (p.Met448Arg) | |
| 1 | g.202596845A>G | CA344255816 | SYT2 | c.1172T>C (p.Met391Thr) c.1181T>C (p.Met394Thr) c.1352T>C (p.Met451Thr) c.1343T>C (p.Met448Thr) | dbSNP |
| 1 | g.202596845A>T | CA344255817 | SYT2 | c.1172T>A (p.Met391Lys) c.1181T>A (p.Met394Lys) c.1352T>A (p.Met451Lys) c.1343T>A (p.Met448Lys) | |
| 1 | g.202596846T>A | CA344255818 | SYT2 | c.1171A>T (p.Met391Leu) c.1180A>T (p.Met394Leu) c.1351A>T (p.Met451Leu) c.1342A>T (p.Met448Leu) | gnomAD v4 |
| 1 | g.202596846T>C | CA344255819 | SYT2 | c.1171A>G (p.Met391Val) c.1180A>G (p.Met394Val) c.1351A>G (p.Met451Val) c.1342A>G (p.Met448Val) | dbSNP gnomAD v4 |
| 1 | g.202596846T>G | CA344255820 | SYT2 | c.1171A>C (p.Met391Leu) c.1180A>C (p.Met394Leu) c.1351A>C (p.Met451Leu) c.1342A>C (p.Met448Leu) | |
| 1 | g.202596846T= | CA2481403133 | SYT2 | c.1171A= (p.Met391=) c.1180A= (p.Met394=) c.1351A= (p.Met451=) c.1342A= (p.Met448=) | |
| 1 | g.202596847G>A | CA422578141 | SYT2 | c.1170C>T (p.Asp390=) c.1179C>T (p.Asp393=) c.1350C>T (p.Asp450=) c.1341C>T (p.Asp447=) | |
| 1 | g.202596847G>C | CA344255821 | SYT2 | c.1170C>G (p.Asp390Glu) c.1179C>G (p.Asp393Glu) c.1350C>G (p.Asp450Glu) c.1341C>G (p.Asp447Glu) | |
| 1 | g.202596847G>T | CA344255822 | SYT2 | c.1170C>A (p.Asp390Glu) c.1179C>A (p.Asp393Glu) c.1350C>A (p.Asp450Glu) c.1341C>A (p.Asp447Glu) | |
| 1 | g.202596848T>A | CA344255823 | SYT2 | c.1169A>T (p.Asp390Val) c.1178A>T (p.Asp393Val) c.1349A>T (p.Asp450Val) c.1340A>T (p.Asp447Val) | gnomAD v4 |
| 1 | g.202596848T>C | CA344255824 | SYT2 | c.1169A>G (p.Asp390Gly) c.1178A>G (p.Asp393Gly) c.1349A>G (p.Asp450Gly) c.1340A>G (p.Asp447Gly) | dbSNP gnomAD v4 |
| 1 | g.202596848T>G | CA344255825 | SYT2 | c.1169A>C (p.Asp390Ala) c.1178A>C (p.Asp393Ala) c.1349A>C (p.Asp450Ala) c.1340A>C (p.Asp447Ala) | |
| 1 | g.202596848T= | CA2481403134 | SYT2 | c.1169A= (p.Asp390=) c.1178A= (p.Asp393=) c.1349A= (p.Asp450=) c.1340A= (p.Asp447=) | |
| 1 | g.202596849C>A | CA344255826 | SYT2 | c.1168G>T (p.Asp390Tyr) c.1177G>T (p.Asp393Tyr) c.1348G>T (p.Asp450Tyr) c.1339G>T (p.Asp447Tyr) | |
| 1 | g.202596849C= | CA2481403135 | SYT2 | c.1168G= (p.Asp390=) c.1177G= (p.Asp393=) c.1348G= (p.Asp450=) c.1339G= (p.Asp447=) | |
| 1 | g.202596849C>G | CA344255827 | SYT2 | c.1168G>C (p.Asp390His) c.1177G>C (p.Asp393His) c.1348G>C (p.Asp450His) c.1339G>C (p.Asp447His) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.202596849C>T | CA1333598 | SYT2 | c.1168G>A (p.Asp390Asn) c.1177G>A (p.Asp393Asn) c.1348G>A (p.Asp450Asn) c.1339G>A (p.Asp447Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.202596850G>A | CA1333599 | SYT2 | c.1167C>T (p.Ser389=) c.1176C>T (p.Ser392=) c.1347C>T (p.Ser449=) c.1338C>T (p.Ser446=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596850G>C | CA422578142 | SYT2 | c.1167C>G (p.Ser389=) c.1176C>G (p.Ser392=) c.1347C>G (p.Ser449=) c.1338C>G (p.Ser446=) | |
| 1 | g.202596850G= | CA1143910181 | SYT2 | c.1167C= (p.Ser389=) c.1176C= (p.Ser392=) c.1347C= (p.Ser449=) c.1338C= (p.Ser446=) | |
| 1 | g.202596850G>T | CA422578143 | SYT2 | c.1167C>A (p.Ser389=) c.1176C>A (p.Ser392=) c.1347C>A (p.Ser449=) c.1338C>A (p.Ser446=) | |
| 1 | g.202596851dup | CA2649903300 | SYT2 | c.1167dup (p.Asp390ArgfsTer19) c.1176dup (p.Asp393ArgfsTer19) c.1347dup (p.Asp450ArgfsTer19) c.1338dup (p.Asp447ArgfsTer19) | gnomAD v4 |
| 1 | g.202596851G>A | CA344255828 | SYT2 | c.1166C>T (p.Ser389Phe) c.1175C>T (p.Ser392Phe) c.1346C>T (p.Ser449Phe) c.1337C>T (p.Ser446Phe) | |
| 1 | g.202596851G>C | CA344255829 | SYT2 | c.1166C>G (p.Ser389Cys) c.1175C>G (p.Ser392Cys) c.1346C>G (p.Ser449Cys) c.1337C>G (p.Ser446Cys) | |
| 1 | g.202596851G>T | CA344255830 | SYT2 | c.1166C>A (p.Ser389Tyr) c.1175C>A (p.Ser392Tyr) c.1346C>A (p.Ser449Tyr) c.1337C>A (p.Ser446Tyr) | |
| 1 | g.202596852A= | CA2481403136 | SYT2 | c.1165T= (p.Ser389=) c.1174T= (p.Ser392=) c.1345T= (p.Ser449=) c.1336T= (p.Ser446=) | |
| 1 | g.202596852A>C | CA344255831 | SYT2 | c.1165T>G (p.Ser389Ala) c.1174T>G (p.Ser392Ala) c.1345T>G (p.Ser449Ala) c.1336T>G (p.Ser446Ala) | dbSNP gnomAD v2 |
| 1 | g.202596852A>G | CA344255832 | SYT2 | c.1165T>C (p.Ser389Pro) c.1174T>C (p.Ser392Pro) c.1345T>C (p.Ser449Pro) c.1336T>C (p.Ser446Pro) | |
| 1 | g.202596852A>T | CA344255833 | SYT2 | c.1165T>A (p.Ser389Thr) c.1174T>A (p.Ser392Thr) c.1345T>A (p.Ser449Thr) c.1336T>A (p.Ser446Thr) | |
| 1 | g.202596853C>A | CA344255834 | SYT2 | c.1164G>T (p.Trp388Cys) c.1173G>T (p.Trp391Cys) c.1344G>T (p.Trp448Cys) c.1335G>T (p.Trp445Cys) | gnomAD v4 |
| 1 | g.202596853C>G | CA344255835 | SYT2 | c.1164G>C (p.Trp388Cys) c.1173G>C (p.Trp391Cys) c.1344G>C (p.Trp448Cys) c.1335G>C (p.Trp445Cys) | |
| 1 | g.202596853C>T | CA344255836 | SYT2 | c.1164G>A (p.Trp388Ter) c.1173G>A (p.Trp391Ter) c.1344G>A (p.Trp448Ter) c.1335G>A (p.Trp445Ter) | |
| 1 | g.202596854C>A | CA344255837 | SYT2 | c.1163G>T (p.Trp388Leu) c.1172G>T (p.Trp391Leu) c.1343G>T (p.Trp448Leu) c.1334G>T (p.Trp445Leu) | |
| 1 | g.202596854C>G | CA344255838 | SYT2 | c.1163G>C (p.Trp388Ser) c.1172G>C (p.Trp391Ser) c.1343G>C (p.Trp448Ser) c.1334G>C (p.Trp445Ser) | |
| 1 | g.202596854C>T | CA344255839 | SYT2 | c.1163G>A (p.Trp388Ter) c.1172G>A (p.Trp391Ter) c.1343G>A (p.Trp448Ter) c.1334G>A (p.Trp445Ter) | |
| 1 | g.202596855A>C | CA344255840 | SYT2 | c.1162T>G (p.Trp388Gly) c.1171T>G (p.Trp391Gly) c.1342T>G (p.Trp448Gly) c.1333T>G (p.Trp445Gly) | |
| 1 | g.202596855A>G | CA344255841 | SYT2 | c.1162T>C (p.Trp388Arg) c.1171T>C (p.Trp391Arg) c.1342T>C (p.Trp448Arg) c.1333T>C (p.Trp445Arg) | |
| 1 | g.202596855A>T | CA344255842 | SYT2 | c.1162T>A (p.Trp388Arg) c.1171T>A (p.Trp391Arg) c.1342T>A (p.Trp448Arg) c.1333T>A (p.Trp445Arg) | |
| 1 | g.202596856G>A | CA422578146 | SYT2 | c.1161C>T (p.His387=) c.1170C>T (p.His390=) c.1341C>T (p.His447=) c.1332C>T (p.His444=) | |
| 1 | g.202596856G>C | CA344255843 | SYT2 | c.1161C>G (p.His387Gln) c.1170C>G (p.His390Gln) c.1341C>G (p.His447Gln) c.1332C>G (p.His444Gln) | |
| 1 | g.202596856G>T | CA344255844 | SYT2 | c.1161C>A (p.His387Gln) c.1170C>A (p.His390Gln) c.1341C>A (p.His447Gln) c.1332C>A (p.His444Gln) | |
| 1 | g.202596857T>A | CA344255845 | SYT2 | c.1160A>T (p.His387Leu) c.1169A>T (p.His390Leu) c.1340A>T (p.His447Leu) c.1331A>T (p.His444Leu) | |
| 1 | g.202596857T>C | CA344255847 | SYT2 | c.1160A>G (p.His387Arg) c.1169A>G (p.His390Arg) c.1340A>G (p.His447Arg) c.1331A>G (p.His444Arg) | |
| 1 | g.202596857T>G | CA344255846 | SYT2 | c.1160A>C (p.His387Pro) c.1169A>C (p.His390Pro) c.1340A>C (p.His447Pro) c.1331A>C (p.His444Pro) | |
| 1 | g.202596858G>A | CA344255848 | SYT2 | c.1159C>T (p.His387Tyr) c.1168C>T (p.His390Tyr) c.1339C>T (p.His447Tyr) c.1330C>T (p.His444Tyr) | |
| 1 | g.202596858G>C | CA344255850 | SYT2 | c.1159C>G (p.His387Asp) c.1168C>G (p.His390Asp) c.1339C>G (p.His447Asp) c.1330C>G (p.His444Asp) | |
| 1 | g.202596858G>T | CA344255849 | SYT2 | c.1159C>A (p.His387Asn) c.1168C>A (p.His390Asn) c.1339C>A (p.His447Asn) c.1330C>A (p.His444Asn) | |
| 1 | g.202596859C>A | CA422578147 | SYT2 | c.1158G>T (p.Arg386=) c.1167G>T (p.Arg389=) c.1338G>T (p.Arg446=) c.1329G>T (p.Arg443=) | |
| 1 | g.202596859C>G | CA422578148 | SYT2 | c.1158G>C (p.Arg386=) c.1167G>C (p.Arg389=) c.1338G>C (p.Arg446=) c.1329G>C (p.Arg443=) | |
| 1 | g.202596859C>T | CA422578149 | SYT2 | c.1158G>A (p.Arg386=) c.1167G>A (p.Arg389=) c.1338G>A (p.Arg446=) c.1329G>A (p.Arg443=) | gnomAD v4 |
| 1 | g.202596860C>A | CA344255851 | SYT2 | c.1157G>T (p.Arg386Leu) c.1166G>T (p.Arg389Leu) c.1337G>T (p.Arg446Leu) c.1328G>T (p.Arg443Leu) | |
| 1 | g.202596860C= | CA2481403137 | SYT2 | c.1157G= (p.Arg386=) c.1166G= (p.Arg389=) c.1337G= (p.Arg446=) c.1328G= (p.Arg443=) | |
| 1 | g.202596860C>G | CA344255852 | SYT2 | c.1157G>C (p.Arg386Pro) c.1166G>C (p.Arg389Pro) c.1337G>C (p.Arg446Pro) c.1328G>C (p.Arg443Pro) | |
| 1 | g.202596860C>T | CA344255853 | SYT2 | c.1157G>A (p.Arg386Gln) c.1166G>A (p.Arg389Gln) c.1337G>A (p.Arg446Gln) c.1328G>A (p.Arg443Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596861G>A | CA344255854 | SYT2 | c.1156C>T (p.Arg386Trp) c.1165C>T (p.Arg389Trp) c.1336C>T (p.Arg446Trp) c.1327C>T (p.Arg443Trp) | dbSNP gnomAD v4 |
| 1 | g.202596861G>C | CA344255855 | SYT2 | c.1156C>G (p.Arg386Gly) c.1165C>G (p.Arg389Gly) c.1336C>G (p.Arg446Gly) c.1327C>G (p.Arg443Gly) | |
| 1 | g.202596861G= | CA2481403138 | SYT2 | c.1156C= (p.Arg386=) c.1165C= (p.Arg389=) c.1336C= (p.Arg446=) c.1327C= (p.Arg443=) | |
| 1 | g.202596861G>T | CA1333600 | SYT2 | c.1156C>A (p.Arg386=) c.1165C>A (p.Arg389=) c.1336C>A (p.Arg446=) c.1327C>A (p.Arg443=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.202596862C>A | CA422578150 | SYT2 | c.1155G>T (p.Leu385=) c.1164G>T (p.Leu388=) c.1335G>T (p.Leu445=) c.1326G>T (p.Leu442=) | |
| 1 | g.202596862C>G | CA422578151 | SYT2 | c.1155G>C (p.Leu385=) c.1164G>C (p.Leu388=) c.1335G>C (p.Leu445=) c.1326G>C (p.Leu442=) | |
| 1 | g.202596862C>T | CA422578152 | SYT2 | c.1155G>A (p.Leu385=) c.1164G>A (p.Leu388=) c.1335G>A (p.Leu445=) c.1326G>A (p.Leu442=) | |
| 1 | g.202596863A>C | CA344255856 | SYT2 | c.1154T>G (p.Leu385Arg) c.1163T>G (p.Leu388Arg) c.1334T>G (p.Leu445Arg) c.1325T>G (p.Leu442Arg) | gnomAD v4 |
| 1 | g.202596863A>G | CA344255857 | SYT2 | c.1154T>C (p.Leu385Pro) c.1163T>C (p.Leu388Pro) c.1334T>C (p.Leu445Pro) c.1325T>C (p.Leu442Pro) | |
| 1 | g.202596863A>T | CA344255858 | SYT2 | c.1154T>A (p.Leu385Gln) c.1163T>A (p.Leu388Gln) c.1334T>A (p.Leu445Gln) c.1325T>A (p.Leu442Gln) | |
| 1 | g.202596864G>A | CA422578153 | SYT2 | c.1153C>T (p.Leu385=) c.1162C>T (p.Leu388=) c.1333C>T (p.Leu445=) c.1324C>T (p.Leu442=) | |
| 1 | g.202596864G>C | CA344255860 | SYT2 | c.1153C>G (p.Leu385Val) c.1162C>G (p.Leu388Val) c.1333C>G (p.Leu445Val) c.1324C>G (p.Leu442Val) | gnomAD v4 |
| 1 | g.202596864G>T | CA344255861 | SYT2 | c.1153C>A (p.Leu385Met) c.1162C>A (p.Leu388Met) c.1333C>A (p.Leu445Met) c.1324C>A (p.Leu442Met) | |
| 1 | g.202596865C>A | CA344255862 | SYT2 | c.1152G>T (p.Glu384Asp) c.1161G>T (p.Glu387Asp) c.1332G>T (p.Glu444Asp) c.1323G>T (p.Glu441Asp) | |
| 1 | g.202596865C= | CA2481403139 | SYT2 | c.1152G= (p.Glu384=) c.1161G= (p.Glu387=) c.1332G= (p.Glu444=) c.1323G= (p.Glu441=) | |
| 1 | g.202596865C>G | CA344255863 | SYT2 | c.1152G>C (p.Glu384Asp) c.1161G>C (p.Glu387Asp) c.1332G>C (p.Glu444Asp) c.1323G>C (p.Glu441Asp) | |
| 1 | g.202596865C>T | CA35575158 | SYT2 | c.1152G>A (p.Glu384=) c.1161G>A (p.Glu387=) c.1332G>A (p.Glu444=) c.1323G>A (p.Glu441=) | dbSNP |
| 1 | g.202596866T>A | CA344255866 | SYT2 | c.1151A>T (p.Glu384Val) c.1160A>T (p.Glu387Val) c.1331A>T (p.Glu444Val) c.1322A>T (p.Glu441Val) | |
| 1 | g.202596866T>C | CA344255868 | SYT2 | c.1151A>G (p.Glu384Gly) c.1160A>G (p.Glu387Gly) c.1331A>G (p.Glu444Gly) c.1322A>G (p.Glu441Gly) | |
| 1 | g.202596866T>G | CA344255867 | SYT2 | c.1151A>C (p.Glu384Ala) c.1160A>C (p.Glu387Ala) c.1331A>C (p.Glu444Ala) c.1322A>C (p.Glu441Ala) | |
| 1 | g.202596867C>A | CA344255870 | SYT2 | c.1150G>T (p.Glu384Ter) c.1159G>T (p.Glu387Ter) c.1330G>T (p.Glu444Ter) c.1321G>T (p.Glu441Ter) | |
| 1 | g.202596867C>G | CA344255872 | SYT2 | c.1150G>C (p.Glu384Gln) c.1159G>C (p.Glu387Gln) c.1330G>C (p.Glu444Gln) c.1321G>C (p.Glu441Gln) | |
| 1 | g.202596867C>T | CA344255874 | SYT2 | c.1150G>A (p.Glu384Lys) c.1159G>A (p.Glu387Lys) c.1330G>A (p.Glu444Lys) c.1321G>A (p.Glu441Lys) | COSMIC |
| 1 | g.202596868T>A | CA422578154 | SYT2 | c.1149A>T (p.Thr383=) c.1158A>T (p.Thr386=) c.1329A>T (p.Thr443=) c.1320A>T (p.Thr440=) | |
| 1 | g.202596868T>C | CA422578155 | SYT2 | c.1149A>G (p.Thr383=) c.1158A>G (p.Thr386=) c.1329A>G (p.Thr443=) c.1320A>G (p.Thr440=) | |
| 1 | g.202596868T>G | CA422578156 | SYT2 | c.1149A>C (p.Thr383=) c.1158A>C (p.Thr386=) c.1329A>C (p.Thr443=) c.1320A>C (p.Thr440=) | |
| 1 | g.202596869G>A | CA344255876 | SYT2 | c.1148C>T (p.Thr383Ile) c.1157C>T (p.Thr386Ile) c.1328C>T (p.Thr443Ile) c.1319C>T (p.Thr440Ile) | |
| 1 | g.202596869G>C | CA344255878 | SYT2 | c.1148C>G (p.Thr383Arg) c.1157C>G (p.Thr386Arg) c.1328C>G (p.Thr443Arg) c.1319C>G (p.Thr440Arg) | |
| 1 | g.202596869G>T | CA344255880 | SYT2 | c.1148C>A (p.Thr383Lys) c.1157C>A (p.Thr386Lys) c.1328C>A (p.Thr443Lys) c.1319C>A (p.Thr440Lys) | |
| 1 | g.202596870T>A | CA344255881 | SYT2 | c.1147A>T (p.Thr383Ser) c.1156A>T (p.Thr386Ser) c.1327A>T (p.Thr443Ser) c.1318A>T (p.Thr440Ser) | |
| 1 | g.202596870T>C | CA344255883 | SYT2 | c.1147A>G (p.Thr383Ala) c.1156A>G (p.Thr386Ala) c.1327A>G (p.Thr443Ala) c.1318A>G (p.Thr440Ala) | |
| 1 | g.202596870T>G | CA344255884 | SYT2 | c.1147A>C (p.Thr383Pro) c.1156A>C (p.Thr386Pro) c.1327A>C (p.Thr443Pro) c.1318A>C (p.Thr440Pro) | |
| 1 | g.202596871G>A | CA422578157 | SYT2 | c.1146C>T (p.Gly382=) c.1155C>T (p.Gly385=) c.1326C>T (p.Gly442=) c.1317C>T (p.Gly439=) | dbSNP |
| 1 | g.202596871G>C | CA422578158 | SYT2 | c.1146C>G (p.Gly382=) c.1155C>G (p.Gly385=) c.1326C>G (p.Gly442=) c.1317C>G (p.Gly439=) | |
| 1 | g.202596871G= | CA2481403140 | SYT2 | c.1146C= (p.Gly382=) c.1155C= (p.Gly385=) c.1326C= (p.Gly442=) c.1317C= (p.Gly439=) | |
| 1 | g.202596871G>T | CA422578159 | SYT2 | c.1146C>A (p.Gly382=) c.1155C>A (p.Gly385=) c.1326C>A (p.Gly442=) c.1317C>A (p.Gly439=) | |
| 1 | g.202596872C>A | CA344255891 | SYT2 | c.1145G>T (p.Gly382Val) c.1154G>T (p.Gly385Val) c.1325G>T (p.Gly442Val) c.1316G>T (p.Gly439Val) | |
| 1 | g.202596872C>G | CA344255889 | SYT2 | c.1145G>C (p.Gly382Ala) c.1154G>C (p.Gly385Ala) c.1325G>C (p.Gly442Ala) c.1316G>C (p.Gly439Ala) | |
| 1 | g.202596872C>T | CA344255887 | SYT2 | c.1145G>A (p.Gly382Asp) c.1154G>A (p.Gly385Asp) c.1325G>A (p.Gly442Asp) c.1316G>A (p.Gly439Asp) | |
| 1 | g.202596873C>A | CA344255893 | SYT2 | c.1144G>T (p.Gly382Cys) c.1153G>T (p.Gly385Cys) c.1324G>T (p.Gly442Cys) c.1315G>T (p.Gly439Cys) | |
| 1 | g.202596873C= | CA2481403141 | SYT2 | c.1144G= (p.Gly382=) c.1153G= (p.Gly385=) c.1324G= (p.Gly442=) c.1315G= (p.Gly439=) | |
| 1 | g.202596873C>G | CA344255894 | SYT2 | c.1144G>C (p.Gly382Arg) c.1153G>C (p.Gly385Arg) c.1324G>C (p.Gly442Arg) c.1315G>C (p.Gly439Arg) | |
| 1 | g.202596873C>T | CA344255896 | SYT2 | c.1144G>A (p.Gly382Ser) c.1153G>A (p.Gly385Ser) c.1324G>A (p.Gly442Ser) c.1315G>A (p.Gly439Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |