| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.57896874C>A | CA353412272 | SLMAP | c.1329C>A (p.Asp443Glu) c.1392C>A (p.Asp464Glu) c.1443C>A (p.Asp481Glu) c.1269C>A (p.Asp423Glu) c.1278C>A (p.Asp426Glu) c.1218C>A (p.Asp406Glu) c.1284C>A (p.Asp428Glu) n.2881C>A c.581C>A c.-7C>A (n.-7C>A) c.*311C>A (n.*311C>A) c.216C>A c.*131C>A (n.*131C>A) c.261C>A c.*1080C>A (n.*1080C>A) c.338C>A c.1341C>A (p.Asp447Glu) c.1380C>A (p.Asp460Glu) c.214C>A c.143C>A c.127C>A n.185C>A n.193C>A c.1449C>A (p.Asp483Glu) c.1398C>A (p.Asp466Glu) c.1386C>A (p.Asp462Glu) c.1347C>A (p.Asp449Glu) c.1335C>A (p.Asp445Glu) n.2800C>A n.2737C>A n.2792C>A n.2786C>A n.2729C>A n.2610C>A | |
| 3 | g.57896874C= | CA1367404661 | SLMAP | c.1329C= (p.Asp443=) c.1392C= (p.Asp464=) c.1443C= (p.Asp481=) c.1269C= (p.Asp423=) c.1278C= (p.Asp426=) c.1218C= (p.Asp406=) c.1284C= (p.Asp428=) n.2881C= c.581C= c.-7C= (n.-7C=) c.*311C= (n.*311C=) c.216C= c.*131C= (n.*131C=) c.261C= c.*1080C= (n.*1080C=) c.338C= c.1341C= (p.Asp447=) c.1380C= (p.Asp460=) c.214C= c.143C= c.127C= n.185C= n.193C= c.1449C= (p.Asp483=) c.1398C= (p.Asp466=) c.1386C= (p.Asp462=) c.1347C= (p.Asp449=) c.1335C= (p.Asp445=) n.2800C= n.2737C= n.2792C= n.2786C= n.2729C= n.2610C= | |
| 3 | g.57896874C>G | CA353412273 | SLMAP | c.1329C>G (p.Asp443Glu) c.1392C>G (p.Asp464Glu) c.1443C>G (p.Asp481Glu) c.1269C>G (p.Asp423Glu) c.1278C>G (p.Asp426Glu) c.1218C>G (p.Asp406Glu) c.1284C>G (p.Asp428Glu) n.2881C>G c.581C>G c.-7C>G (n.-7C>G) c.*311C>G (n.*311C>G) c.216C>G c.*131C>G (n.*131C>G) c.261C>G c.*1080C>G (n.*1080C>G) c.338C>G c.1341C>G (p.Asp447Glu) c.1380C>G (p.Asp460Glu) c.214C>G c.143C>G c.127C>G n.185C>G n.193C>G c.1449C>G (p.Asp483Glu) c.1398C>G (p.Asp466Glu) c.1386C>G (p.Asp462Glu) c.1347C>G (p.Asp449Glu) c.1335C>G (p.Asp445Glu) n.2800C>G n.2737C>G n.2792C>G n.2786C>G n.2729C>G n.2610C>G | |
| 3 | g.57896874C>T | CA2467146 | SLMAP | c.1329C>T (p.Asp443=) c.1392C>T (p.Asp464=) c.1443C>T (p.Asp481=) c.1269C>T (p.Asp423=) c.1278C>T (p.Asp426=) c.1218C>T (p.Asp406=) c.1284C>T (p.Asp428=) n.2881C>T c.581C>T c.-7C>T (n.-7C>T) c.*311C>T (n.*311C>T) c.216C>T c.*131C>T (n.*131C>T) c.261C>T c.*1080C>T (n.*1080C>T) c.338C>T c.1341C>T (p.Asp447=) c.1380C>T (p.Asp460=) c.214C>T c.143C>T c.127C>T n.185C>T n.193C>T c.1449C>T (p.Asp483=) c.1398C>T (p.Asp466=) c.1386C>T (p.Asp462=) c.1347C>T (p.Asp449=) c.1335C>T (p.Asp445=) n.2800C>T n.2737C>T n.2792C>T n.2786C>T n.2729C>T n.2610C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.57896875G>A | CA353412274 | SLMAP | c.1330G>A (p.Ala444Thr) c.1393G>A (p.Ala465Thr) c.1444G>A (p.Ala482Thr) c.1270G>A (p.Ala424Thr) c.1279G>A (p.Ala427Thr) c.1219G>A (p.Ala407Thr) c.1285G>A (p.Ala429Thr) n.2882G>A c.582G>A c.-6G>A (n.-6G>A) c.*312G>A (n.*312G>A) c.217G>A c.*132G>A (n.*132G>A) c.262G>A c.*1081G>A (n.*1081G>A) c.339G>A c.1342G>A (p.Ala448Thr) c.1381G>A (p.Ala461Thr) c.215G>A c.144G>A c.128G>A n.186G>A n.194G>A c.1450G>A (p.Ala484Thr) c.1399G>A (p.Ala467Thr) c.1387G>A (p.Ala463Thr) c.1348G>A (p.Ala450Thr) c.1336G>A (p.Ala446Thr) n.2801G>A n.2738G>A n.2793G>A n.2787G>A n.2730G>A n.2611G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.57896875G>C | CA353412276 | SLMAP | c.1330G>C (p.Ala444Pro) c.1393G>C (p.Ala465Pro) c.1444G>C (p.Ala482Pro) c.1270G>C (p.Ala424Pro) c.1279G>C (p.Ala427Pro) c.1219G>C (p.Ala407Pro) c.1285G>C (p.Ala429Pro) n.2882G>C c.582G>C c.-6G>C (n.-6G>C) c.*312G>C (n.*312G>C) c.217G>C c.*132G>C (n.*132G>C) c.262G>C c.*1081G>C (n.*1081G>C) c.339G>C c.1342G>C (p.Ala448Pro) c.1381G>C (p.Ala461Pro) c.215G>C c.144G>C c.128G>C n.186G>C n.194G>C c.1450G>C (p.Ala484Pro) c.1399G>C (p.Ala467Pro) c.1387G>C (p.Ala463Pro) c.1348G>C (p.Ala450Pro) c.1336G>C (p.Ala446Pro) n.2801G>C n.2738G>C n.2793G>C n.2787G>C n.2730G>C n.2611G>C | |
| 3 | g.57896875G= | CA1367404662 | SLMAP | c.1330G= (p.Ala444=) c.1393G= (p.Ala465=) c.1444G= (p.Ala482=) c.1270G= (p.Ala424=) c.1279G= (p.Ala427=) c.1219G= (p.Ala407=) c.1285G= (p.Ala429=) n.2882G= c.582G= c.-6G= (n.-6G=) c.*312G= (n.*312G=) c.217G= c.*132G= (n.*132G=) c.262G= c.*1081G= (n.*1081G=) c.339G= c.1342G= (p.Ala448=) c.1381G= (p.Ala461=) c.215G= c.144G= c.128G= n.186G= n.194G= c.1450G= (p.Ala484=) c.1399G= (p.Ala467=) c.1387G= (p.Ala463=) c.1348G= (p.Ala450=) c.1336G= (p.Ala446=) n.2801G= n.2738G= n.2793G= n.2787G= n.2730G= n.2611G= | |
| 3 | g.57896875G>T | CA353412277 | SLMAP | c.1330G>T (p.Ala444Ser) c.1393G>T (p.Ala465Ser) c.1444G>T (p.Ala482Ser) c.1270G>T (p.Ala424Ser) c.1279G>T (p.Ala427Ser) c.1219G>T (p.Ala407Ser) c.1285G>T (p.Ala429Ser) n.2882G>T c.582G>T c.-6G>T (n.-6G>T) c.*312G>T (n.*312G>T) c.217G>T c.*132G>T (n.*132G>T) c.262G>T c.*1081G>T (n.*1081G>T) c.339G>T c.1342G>T (p.Ala448Ser) c.1381G>T (p.Ala461Ser) c.215G>T c.144G>T c.128G>T n.186G>T n.194G>T c.1450G>T (p.Ala484Ser) c.1399G>T (p.Ala467Ser) c.1387G>T (p.Ala463Ser) c.1348G>T (p.Ala450Ser) c.1336G>T (p.Ala446Ser) n.2801G>T n.2738G>T n.2793G>T n.2787G>T n.2730G>T n.2611G>T | |
| 3 | g.57896876C>A | CA2467147 | SLMAP | c.1331C>A (p.Ala444Asp) c.1394C>A (p.Ala465Asp) c.1445C>A (p.Ala482Asp) c.1271C>A (p.Ala424Asp) c.1280C>A (p.Ala427Asp) c.1220C>A (p.Ala407Asp) c.1286C>A (p.Ala429Asp) n.2883C>A c.583C>A c.-5C>A (n.-5C>A) c.*313C>A (n.*313C>A) c.218C>A c.*133C>A (n.*133C>A) c.263C>A c.*1082C>A (n.*1082C>A) c.340C>A c.1343C>A (p.Ala448Asp) c.1382C>A (p.Ala461Asp) c.216C>A c.145C>A c.129C>A n.187C>A n.195C>A c.1451C>A (p.Ala484Asp) c.1400C>A (p.Ala467Asp) c.1388C>A (p.Ala463Asp) c.1349C>A (p.Ala450Asp) c.1337C>A (p.Ala446Asp) n.2802C>A n.2739C>A n.2794C>A n.2788C>A n.2731C>A n.2612C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.57896876C= | CA1367404663 | SLMAP | c.1331C= (p.Ala444=) c.1394C= (p.Ala465=) c.1445C= (p.Ala482=) c.1271C= (p.Ala424=) c.1280C= (p.Ala427=) c.1220C= (p.Ala407=) c.1286C= (p.Ala429=) n.2883C= c.583C= c.-5C= (n.-5C=) c.*313C= (n.*313C=) c.218C= c.*133C= (n.*133C=) c.263C= c.*1082C= (n.*1082C=) c.340C= c.1343C= (p.Ala448=) c.1382C= (p.Ala461=) c.216C= c.145C= c.129C= n.187C= n.195C= c.1451C= (p.Ala484=) c.1400C= (p.Ala467=) c.1388C= (p.Ala463=) c.1349C= (p.Ala450=) c.1337C= (p.Ala446=) n.2802C= n.2739C= n.2794C= n.2788C= n.2731C= n.2612C= | |
| 3 | g.57896876C>G | CA2467148 | SLMAP | c.1331C>G (p.Ala444Gly) c.1394C>G (p.Ala465Gly) c.1445C>G (p.Ala482Gly) c.1271C>G (p.Ala424Gly) c.1280C>G (p.Ala427Gly) c.1220C>G (p.Ala407Gly) c.1286C>G (p.Ala429Gly) n.2883C>G c.583C>G c.-5C>G (n.-5C>G) c.*313C>G (n.*313C>G) c.218C>G c.*133C>G (n.*133C>G) c.263C>G c.*1082C>G (n.*1082C>G) c.340C>G c.1343C>G (p.Ala448Gly) c.1382C>G (p.Ala461Gly) c.216C>G c.145C>G c.129C>G n.187C>G n.195C>G c.1451C>G (p.Ala484Gly) c.1400C>G (p.Ala467Gly) c.1388C>G (p.Ala463Gly) c.1349C>G (p.Ala450Gly) c.1337C>G (p.Ala446Gly) n.2802C>G n.2739C>G n.2794C>G n.2788C>G n.2731C>G n.2612C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.57896876C>T | CA353412278 | SLMAP | c.1331C>T (p.Ala444Val) c.1394C>T (p.Ala465Val) c.1445C>T (p.Ala482Val) c.1271C>T (p.Ala424Val) c.1280C>T (p.Ala427Val) c.1220C>T (p.Ala407Val) c.1286C>T (p.Ala429Val) n.2883C>T c.583C>T c.-5C>T (n.-5C>T) c.*313C>T (n.*313C>T) c.218C>T c.*133C>T (n.*133C>T) c.263C>T c.*1082C>T (n.*1082C>T) c.340C>T c.1343C>T (p.Ala448Val) c.1382C>T (p.Ala461Val) c.216C>T c.145C>T c.129C>T n.187C>T n.195C>T c.1451C>T (p.Ala484Val) c.1400C>T (p.Ala467Val) c.1388C>T (p.Ala463Val) c.1349C>T (p.Ala450Val) c.1337C>T (p.Ala446Val) n.2802C>T n.2739C>T n.2794C>T n.2788C>T n.2731C>T n.2612C>T | dbSNP |
| 3 | g.57896877C>A | CA434104379 | SLMAP | c.1332C>A (p.Ala444=) c.1395C>A (p.Ala465=) c.1446C>A (p.Ala482=) c.1272C>A (p.Ala424=) c.1281C>A (p.Ala427=) c.1221C>A (p.Ala407=) c.1287C>A (p.Ala429=) n.2884C>A c.584C>A c.-4C>A (n.-4C>A) c.*314C>A (n.*314C>A) c.219C>A c.*134C>A (n.*134C>A) c.264C>A c.*1083C>A (n.*1083C>A) c.341C>A c.1344C>A (p.Ala448=) c.1383C>A (p.Ala461=) c.217C>A c.146C>A c.130C>A n.188C>A n.196C>A c.1452C>A (p.Ala484=) c.1401C>A (p.Ala467=) c.1389C>A (p.Ala463=) c.1350C>A (p.Ala450=) c.1338C>A (p.Ala446=) n.2803C>A n.2740C>A n.2795C>A n.2789C>A n.2732C>A n.2613C>A | |
| 3 | g.57896877C= | CA1367404664 | SLMAP | c.1332C= (p.Ala444=) c.1395C= (p.Ala465=) c.1446C= (p.Ala482=) c.1272C= (p.Ala424=) c.1281C= (p.Ala427=) c.1221C= (p.Ala407=) c.1287C= (p.Ala429=) n.2884C= c.584C= c.-4C= (n.-4C=) c.*314C= (n.*314C=) c.219C= c.*134C= (n.*134C=) c.264C= c.*1083C= (n.*1083C=) c.341C= c.1344C= (p.Ala448=) c.1383C= (p.Ala461=) c.217C= c.146C= c.130C= n.188C= n.196C= c.1452C= (p.Ala484=) c.1401C= (p.Ala467=) c.1389C= (p.Ala463=) c.1350C= (p.Ala450=) c.1338C= (p.Ala446=) n.2803C= n.2740C= n.2795C= n.2789C= n.2732C= n.2613C= | |
| 3 | g.57896877C>G | CA434104381 | SLMAP | c.1332C>G (p.Ala444=) c.1395C>G (p.Ala465=) c.1446C>G (p.Ala482=) c.1272C>G (p.Ala424=) c.1281C>G (p.Ala427=) c.1221C>G (p.Ala407=) c.1287C>G (p.Ala429=) n.2884C>G c.584C>G c.-4C>G (n.-4C>G) c.*314C>G (n.*314C>G) c.219C>G c.*134C>G (n.*134C>G) c.264C>G c.*1083C>G (n.*1083C>G) c.341C>G c.1344C>G (p.Ala448=) c.1383C>G (p.Ala461=) c.217C>G c.146C>G c.130C>G n.188C>G n.196C>G c.1452C>G (p.Ala484=) c.1401C>G (p.Ala467=) c.1389C>G (p.Ala463=) c.1350C>G (p.Ala450=) c.1338C>G (p.Ala446=) n.2803C>G n.2740C>G n.2795C>G n.2789C>G n.2732C>G n.2613C>G | |
| 3 | g.57896877C>T | CA434104382 | SLMAP | c.1332C>T (p.Ala444=) c.1395C>T (p.Ala465=) c.1446C>T (p.Ala482=) c.1272C>T (p.Ala424=) c.1281C>T (p.Ala427=) c.1221C>T (p.Ala407=) c.1287C>T (p.Ala429=) n.2884C>T c.584C>T c.-4C>T (n.-4C>T) c.*314C>T (n.*314C>T) c.219C>T c.*134C>T (n.*134C>T) c.264C>T c.*1083C>T (n.*1083C>T) c.341C>T c.1344C>T (p.Ala448=) c.1383C>T (p.Ala461=) c.217C>T c.146C>T c.130C>T n.188C>T n.196C>T c.1452C>T (p.Ala484=) c.1401C>T (p.Ala467=) c.1389C>T (p.Ala463=) c.1350C>T (p.Ala450=) c.1338C>T (p.Ala446=) n.2803C>T n.2740C>T n.2795C>T n.2789C>T n.2732C>T n.2613C>T | |
| 3 | g.57896877_57896878insGTAT | CA543402822 | SLMAP | c.1332_1333insGTAT (p.Gln445ValfsTer5) c.1395_1396insGTAT (p.Gln466ValfsTer5) c.1446_1447insGTAT (p.Gln483ValfsTer5) c.1272_1273insGTAT (p.Gln425ValfsTer5) c.1281_1282insGTAT (p.Gln428ValfsTer5) c.1221_1222insGTAT (p.Gln408ValfsTer5) c.1287_1288insGTAT (p.Gln430ValfsTer5) n.2884_2885insGTAT c.584_585insGTAT c.-4_-3insGTAT (n.-4_-3insGTAT) c.*314_*315insGTAT (n.*314_*315insGTAT) c.219_220insGTAT c.*134_*135insGTAT (n.*134_*135insGTAT) c.264_265insGTAT c.*1083_*1084insGTAT (n.*1083_*1084insGTAT) c.341_342insGTAT c.1344_1345insGTAT (p.Gln449ValfsTer5) c.1383_1384insGTAT (p.Gln462ValfsTer5) c.217_218insGTAT c.146_147insGTAT c.130_131insGTAT n.188_189insGTAT n.196_197insGTAT c.1452_1453insGTAT (p.Gln485ValfsTer5) c.1401_1402insGTAT (p.Gln468ValfsTer5) c.1389_1390insGTAT (p.Gln464ValfsTer5) c.1350_1351insGTAT (p.Gln451ValfsTer5) c.1338_1339insGTAT (p.Gln447ValfsTer5) n.2803_2804insGTAT n.2740_2741insGTAT n.2795_2796insGTAT n.2789_2790insGTAT n.2732_2733insGTAT n.2613_2614insGTAT | dbSNP gnomAD v2 |
| 3 | g.57896878C>A | CA353412279 | SLMAP | c.1333C>A (p.Gln445Lys) c.1396C>A (p.Gln466Lys) c.1447C>A (p.Gln483Lys) c.1273C>A (p.Gln425Lys) c.1282C>A (p.Gln428Lys) c.1222C>A (p.Gln408Lys) c.1288C>A (p.Gln430Lys) n.2885C>A c.585C>A c.-3C>A (n.-3C>A) c.*315C>A (n.*315C>A) c.220C>A c.*135C>A (n.*135C>A) c.265C>A c.*1084C>A (n.*1084C>A) c.342C>A c.1345C>A (p.Gln449Lys) c.1384C>A (p.Gln462Lys) c.218C>A c.147C>A c.131C>A n.189C>A n.197C>A c.1453C>A (p.Gln485Lys) c.1402C>A (p.Gln468Lys) c.1390C>A (p.Gln464Lys) c.1351C>A (p.Gln451Lys) c.1339C>A (p.Gln447Lys) n.2804C>A n.2741C>A n.2796C>A n.2790C>A n.2733C>A n.2614C>A | gnomAD v4 |
| 3 | g.57896878C= | CA1367404665 | SLMAP | c.1333C= (p.Gln445=) c.1396C= (p.Gln466=) c.1447C= (p.Gln483=) c.1273C= (p.Gln425=) c.1282C= (p.Gln428=) c.1222C= (p.Gln408=) c.1288C= (p.Gln430=) n.2885C= c.585C= c.-3C= (n.-3C=) c.*315C= (n.*315C=) c.220C= c.*135C= (n.*135C=) c.265C= c.*1084C= (n.*1084C=) c.342C= c.1345C= (p.Gln449=) c.1384C= (p.Gln462=) c.218C= c.147C= c.131C= n.189C= n.197C= c.1453C= (p.Gln485=) c.1402C= (p.Gln468=) c.1390C= (p.Gln464=) c.1351C= (p.Gln451=) c.1339C= (p.Gln447=) n.2804C= n.2741C= n.2796C= n.2790C= n.2733C= n.2614C= | |
| 3 | g.57896878C>G | CA353412280 | SLMAP | c.1333C>G (p.Gln445Glu) c.1396C>G (p.Gln466Glu) c.1447C>G (p.Gln483Glu) c.1273C>G (p.Gln425Glu) c.1282C>G (p.Gln428Glu) c.1222C>G (p.Gln408Glu) c.1288C>G (p.Gln430Glu) n.2885C>G c.585C>G c.-3C>G (n.-3C>G) c.*315C>G (n.*315C>G) c.220C>G c.*135C>G (n.*135C>G) c.265C>G c.*1084C>G (n.*1084C>G) c.342C>G c.1345C>G (p.Gln449Glu) c.1384C>G (p.Gln462Glu) c.218C>G c.147C>G c.131C>G n.189C>G n.197C>G c.1453C>G (p.Gln485Glu) c.1402C>G (p.Gln468Glu) c.1390C>G (p.Gln464Glu) c.1351C>G (p.Gln451Glu) c.1339C>G (p.Gln447Glu) n.2804C>G n.2741C>G n.2796C>G n.2790C>G n.2733C>G n.2614C>G | |
| 3 | g.57896878C>T | CA353412283 | SLMAP | c.1333C>T (p.Gln445Ter) c.1396C>T (p.Gln466Ter) c.1447C>T (p.Gln483Ter) c.1273C>T (p.Gln425Ter) c.1282C>T (p.Gln428Ter) c.1222C>T (p.Gln408Ter) c.1288C>T (p.Gln430Ter) n.2885C>T c.585C>T c.-3C>T (n.-3C>T) c.*315C>T (n.*315C>T) c.220C>T c.*135C>T (n.*135C>T) c.265C>T c.*1084C>T (n.*1084C>T) c.342C>T c.1345C>T (p.Gln449Ter) c.1384C>T (p.Gln462Ter) c.218C>T c.147C>T c.131C>T n.189C>T n.197C>T c.1453C>T (p.Gln485Ter) c.1402C>T (p.Gln468Ter) c.1390C>T (p.Gln464Ter) c.1351C>T (p.Gln451Ter) c.1339C>T (p.Gln447Ter) n.2804C>T n.2741C>T n.2796C>T n.2790C>T n.2733C>T n.2614C>T | |
| 3 | g.57896879A>C | CA353412289 | SLMAP | c.1334A>C (p.Gln445Pro) c.1397A>C (p.Gln466Pro) c.1448A>C (p.Gln483Pro) c.1274A>C (p.Gln425Pro) c.1283A>C (p.Gln428Pro) c.1223A>C (p.Gln408Pro) c.1289A>C (p.Gln430Pro) n.2886A>C c.586A>C c.-2A>C (n.-2A>C) c.*316A>C (n.*316A>C) c.221A>C c.*136A>C (n.*136A>C) c.266A>C c.*1085A>C (n.*1085A>C) c.343A>C c.1346A>C (p.Gln449Pro) c.1385A>C (p.Gln462Pro) c.219A>C c.148A>C c.132A>C n.190A>C n.198A>C c.1454A>C (p.Gln485Pro) c.1403A>C (p.Gln468Pro) c.1391A>C (p.Gln464Pro) c.1352A>C (p.Gln451Pro) c.1340A>C (p.Gln447Pro) n.2805A>C n.2742A>C n.2797A>C n.2791A>C n.2734A>C n.2615A>C | gnomAD v4 |
| 3 | g.57896879A>G | CA353412287 | SLMAP | c.1334A>G (p.Gln445Arg) c.1397A>G (p.Gln466Arg) c.1448A>G (p.Gln483Arg) c.1274A>G (p.Gln425Arg) c.1283A>G (p.Gln428Arg) c.1223A>G (p.Gln408Arg) c.1289A>G (p.Gln430Arg) n.2886A>G c.586A>G c.-2A>G (n.-2A>G) c.*316A>G (n.*316A>G) c.221A>G c.*136A>G (n.*136A>G) c.266A>G c.*1085A>G (n.*1085A>G) c.343A>G c.1346A>G (p.Gln449Arg) c.1385A>G (p.Gln462Arg) c.219A>G c.148A>G c.132A>G n.190A>G n.198A>G c.1454A>G (p.Gln485Arg) c.1403A>G (p.Gln468Arg) c.1391A>G (p.Gln464Arg) c.1352A>G (p.Gln451Arg) c.1340A>G (p.Gln447Arg) n.2805A>G n.2742A>G n.2797A>G n.2791A>G n.2734A>G n.2615A>G | |
| 3 | g.57896879A>T | CA353412285 | SLMAP | c.1334A>T (p.Gln445Leu) c.1397A>T (p.Gln466Leu) c.1448A>T (p.Gln483Leu) c.1274A>T (p.Gln425Leu) c.1283A>T (p.Gln428Leu) c.1223A>T (p.Gln408Leu) c.1289A>T (p.Gln430Leu) n.2886A>T c.586A>T c.-2A>T (n.-2A>T) c.*316A>T (n.*316A>T) c.221A>T c.*136A>T (n.*136A>T) c.266A>T c.*1085A>T (n.*1085A>T) c.343A>T c.1346A>T (p.Gln449Leu) c.1385A>T (p.Gln462Leu) c.219A>T c.148A>T c.132A>T n.190A>T n.198A>T c.1454A>T (p.Gln485Leu) c.1403A>T (p.Gln468Leu) c.1391A>T (p.Gln464Leu) c.1352A>T (p.Gln451Leu) c.1340A>T (p.Gln447Leu) n.2805A>T n.2742A>T n.2797A>T n.2791A>T n.2734A>T n.2615A>T | |
| 3 | g.57896879_57896880insTTAAAAAAA | CA543402823 | SLMAP | c.1334_1335insTTAAAAAAA (p.Gln445HisfsTer2) c.1397_1398insTTAAAAAAA (p.Gln466HisfsTer2) c.1448_1449insTTAAAAAAA (p.Gln483HisfsTer2) c.1274_1275insTTAAAAAAA (p.Gln425HisfsTer2) c.1283_1284insTTAAAAAAA (p.Gln428HisfsTer2) c.1223_1224insTTAAAAAAA (p.Gln408HisfsTer2) c.1289_1290insTTAAAAAAA (p.Gln430HisfsTer2) n.2886_2887insTTAAAAAAA c.586_587insTTAAAAAAA c.-2_-1insTTAAAAAAA (n.-2_-1insTTAAAAAAA) c.*316_*317insTTAAAAAAA (n.*316_*317insTTAAAAAAA) c.221_222insTTAAAAAAA c.*136_*137insTTAAAAAAA (n.*136_*137insTTAAAAAAA) c.266_267insTTAAAAAAA c.*1085_*1086insTTAAAAAAA (n.*1085_*1086insTTAAAAAAA) c.343_344insTTAAAAAAA c.1346_1347insTTAAAAAAA (p.Gln449HisfsTer2) c.1385_1386insTTAAAAAAA (p.Gln462HisfsTer2) c.219_220insTTAAAAAAA c.148_149insTTAAAAAAA c.132_133insTTAAAAAAA n.190_191insTTAAAAAAA n.198_199insTTAAAAAAA c.1454_1455insTTAAAAAAA (p.Gln485HisfsTer2) c.1403_1404insTTAAAAAAA (p.Gln468HisfsTer2) c.1391_1392insTTAAAAAAA (p.Gln464HisfsTer2) c.1352_1353insTTAAAAAAA (p.Gln451HisfsTer2) c.1340_1341insTTAAAAAAA (p.Gln447HisfsTer2) n.2805_2806insTTAAAAAAA n.2742_2743insTTAAAAAAA n.2797_2798insTTAAAAAAA n.2791_2792insTTAAAAAAA n.2734_2735insTTAAAAAAA n.2615_2616insTTAAAAAAA | dbSNP gnomAD v2 |
| 3 | g.57896881del | CA2666255765 | SLMAP | c.1336del (p.Met446TrpfsTer6) c.1399del (p.Met467TrpfsTer6) c.1450del (p.Met484TrpfsTer6) c.1276del (p.Met426TrpfsTer6) c.1285del (p.Met429TrpfsTer6) c.1225del (p.Met409TrpfsTer6) c.1291del (p.Met431TrpfsTer6) n.2888del c.588del c.1del (p.Met1TrpfsTer6) c.*318del (n.*318del) c.223del c.*138del (n.*138del) c.268del c.*1087del (n.*1087del) c.345del c.1348del (p.Met450TrpfsTer6) c.1387del (p.Met463TrpfsTer6) c.221del c.150del c.134del n.192del n.200del c.1456del (p.Met486TrpfsTer6) c.1405del (p.Met469TrpfsTer6) c.1393del (p.Met465TrpfsTer6) c.1354del (p.Met452TrpfsTer6) c.1342del (p.Met448TrpfsTer6) n.2807del n.2744del n.2799del n.2793del n.2736del n.2617del | gnomAD v4 |
| 3 | g.57896880A= | CA1367404666 | SLMAP | c.1335A= (p.Gln445=) c.1398A= (p.Gln466=) c.1449A= (p.Gln483=) c.1275A= (p.Gln425=) c.1284A= (p.Gln428=) c.1224A= (p.Gln408=) c.1290A= (p.Gln430=) n.2887A= c.587A= c.-1A= (n.-1A=) c.*317A= (n.*317A=) c.222A= c.*137A= (n.*137A=) c.267A= c.*1086A= (n.*1086A=) c.344A= c.1347A= (p.Gln449=) c.1386A= (p.Gln462=) c.220A= c.149A= c.133A= n.191A= n.199A= c.1455A= (p.Gln485=) c.1404A= (p.Gln468=) c.1392A= (p.Gln464=) c.1353A= (p.Gln451=) c.1341A= (p.Gln447=) n.2806A= n.2743A= n.2798A= n.2792A= n.2735A= n.2616A= | |
| 3 | g.57896880A>C | CA353412291 | SLMAP | c.1335A>C (p.Gln445His) c.1398A>C (p.Gln466His) c.1449A>C (p.Gln483His) c.1275A>C (p.Gln425His) c.1284A>C (p.Gln428His) c.1224A>C (p.Gln408His) c.1290A>C (p.Gln430His) n.2887A>C c.587A>C c.-1A>C (n.-1A>C) c.*317A>C (n.*317A>C) c.222A>C c.*137A>C (n.*137A>C) c.267A>C c.*1086A>C (n.*1086A>C) c.344A>C c.1347A>C (p.Gln449His) c.1386A>C (p.Gln462His) c.220A>C c.149A>C c.133A>C n.191A>C n.199A>C c.1455A>C (p.Gln485His) c.1404A>C (p.Gln468His) c.1392A>C (p.Gln464His) c.1353A>C (p.Gln451His) c.1341A>C (p.Gln447His) n.2806A>C n.2743A>C n.2798A>C n.2792A>C n.2735A>C n.2616A>C | |
| 3 | g.57896880A>G | CA434104390 | SLMAP | c.1335A>G (p.Gln445=) c.1398A>G (p.Gln466=) c.1449A>G (p.Gln483=) c.1275A>G (p.Gln425=) c.1284A>G (p.Gln428=) c.1224A>G (p.Gln408=) c.1290A>G (p.Gln430=) n.2887A>G c.587A>G c.-1A>G (n.-1A>G) c.*317A>G (n.*317A>G) c.222A>G c.*137A>G (n.*137A>G) c.267A>G c.*1086A>G (n.*1086A>G) c.344A>G c.1347A>G (p.Gln449=) c.1386A>G (p.Gln462=) c.220A>G c.149A>G c.133A>G n.191A>G n.199A>G c.1455A>G (p.Gln485=) c.1404A>G (p.Gln468=) c.1392A>G (p.Gln464=) c.1353A>G (p.Gln451=) c.1341A>G (p.Gln447=) n.2806A>G n.2743A>G n.2798A>G n.2792A>G n.2735A>G n.2616A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.57896880A>T | CA353412292 | SLMAP | c.1335A>T (p.Gln445His) c.1398A>T (p.Gln466His) c.1449A>T (p.Gln483His) c.1275A>T (p.Gln425His) c.1284A>T (p.Gln428His) c.1224A>T (p.Gln408His) c.1290A>T (p.Gln430His) n.2887A>T c.587A>T c.-1A>T (n.-1A>T) c.*317A>T (n.*317A>T) c.222A>T c.*137A>T (n.*137A>T) c.267A>T c.*1086A>T (n.*1086A>T) c.344A>T c.1347A>T (p.Gln449His) c.1386A>T (p.Gln462His) c.220A>T c.149A>T c.133A>T n.191A>T n.199A>T c.1455A>T (p.Gln485His) c.1404A>T (p.Gln468His) c.1392A>T (p.Gln464His) c.1353A>T (p.Gln451His) c.1341A>T (p.Gln447His) n.2806A>T n.2743A>T n.2798A>T n.2792A>T n.2735A>T n.2616A>T | |
| 3 | g.57896881A>C | CA353412293 | SLMAP | c.1336A>C (p.Met446Leu) c.1399A>C (p.Met467Leu) c.1450A>C (p.Met484Leu) c.1276A>C (p.Met426Leu) c.1285A>C (p.Met429Leu) c.1225A>C (p.Met409Leu) c.1291A>C (p.Met431Leu) n.2888A>C c.588A>C c.1A>C (p.Met1Leu) c.*318A>C (n.*318A>C) c.223A>C c.*138A>C (n.*138A>C) c.268A>C c.*1087A>C (n.*1087A>C) c.345A>C c.1348A>C (p.Met450Leu) c.1387A>C (p.Met463Leu) c.221A>C c.150A>C c.134A>C n.192A>C n.200A>C c.1456A>C (p.Met486Leu) c.1405A>C (p.Met469Leu) c.1393A>C (p.Met465Leu) c.1354A>C (p.Met452Leu) c.1342A>C (p.Met448Leu) n.2807A>C n.2744A>C n.2799A>C n.2793A>C n.2736A>C n.2617A>C | |
| 3 | g.57896881A>G | CA353412294 | SLMAP | c.1336A>G (p.Met446Val) c.1399A>G (p.Met467Val) c.1450A>G (p.Met484Val) c.1276A>G (p.Met426Val) c.1285A>G (p.Met429Val) c.1225A>G (p.Met409Val) c.1291A>G (p.Met431Val) n.2888A>G c.588A>G c.1A>G (p.Met1Val) c.*318A>G (n.*318A>G) c.223A>G c.*138A>G (n.*138A>G) c.268A>G c.*1087A>G (n.*1087A>G) c.345A>G c.1348A>G (p.Met450Val) c.1387A>G (p.Met463Val) c.221A>G c.150A>G c.134A>G n.192A>G n.200A>G c.1456A>G (p.Met486Val) c.1405A>G (p.Met469Val) c.1393A>G (p.Met465Val) c.1354A>G (p.Met452Val) c.1342A>G (p.Met448Val) n.2807A>G n.2744A>G n.2799A>G n.2793A>G n.2736A>G n.2617A>G | gnomAD v4 |
| 3 | g.57896881A>T | CA353412296 | SLMAP | c.1336A>T (p.Met446Leu) c.1399A>T (p.Met467Leu) c.1450A>T (p.Met484Leu) c.1276A>T (p.Met426Leu) c.1285A>T (p.Met429Leu) c.1225A>T (p.Met409Leu) c.1291A>T (p.Met431Leu) n.2888A>T c.588A>T c.1A>T (p.Met1Leu) c.*318A>T (n.*318A>T) c.223A>T c.*138A>T (n.*138A>T) c.268A>T c.*1087A>T (n.*1087A>T) c.345A>T c.1348A>T (p.Met450Leu) c.1387A>T (p.Met463Leu) c.221A>T c.150A>T c.134A>T n.192A>T n.200A>T c.1456A>T (p.Met486Leu) c.1405A>T (p.Met469Leu) c.1393A>T (p.Met465Leu) c.1354A>T (p.Met452Leu) c.1342A>T (p.Met448Leu) n.2807A>T n.2744A>T n.2799A>T n.2793A>T n.2736A>T n.2617A>T | |
| 3 | g.57896882T>A | CA353412301 | SLMAP | c.1337T>A (p.Met446Lys) c.1400T>A (p.Met467Lys) c.1451T>A (p.Met484Lys) c.1277T>A (p.Met426Lys) c.1286T>A (p.Met429Lys) c.1226T>A (p.Met409Lys) c.1292T>A (p.Met431Lys) n.2889T>A c.589T>A c.2T>A (p.Met1Lys) c.*319T>A (n.*319T>A) c.224T>A c.*139T>A (n.*139T>A) c.269T>A c.*1088T>A (n.*1088T>A) c.346T>A c.1349T>A (p.Met450Lys) c.1388T>A (p.Met463Lys) c.222T>A c.151T>A c.135T>A n.193T>A n.201T>A c.1457T>A (p.Met486Lys) c.1406T>A (p.Met469Lys) c.1394T>A (p.Met465Lys) c.1355T>A (p.Met452Lys) c.1343T>A (p.Met448Lys) n.2808T>A n.2745T>A n.2800T>A n.2794T>A n.2737T>A n.2618T>A | |
| 3 | g.57896882T>C | CA353412300 | SLMAP | c.1337T>C (p.Met446Thr) c.1400T>C (p.Met467Thr) c.1451T>C (p.Met484Thr) c.1277T>C (p.Met426Thr) c.1286T>C (p.Met429Thr) c.1226T>C (p.Met409Thr) c.1292T>C (p.Met431Thr) n.2889T>C c.589T>C c.2T>C (p.Met1Thr) c.*319T>C (n.*319T>C) c.224T>C c.*139T>C (n.*139T>C) c.269T>C c.*1088T>C (n.*1088T>C) c.346T>C c.1349T>C (p.Met450Thr) c.1388T>C (p.Met463Thr) c.222T>C c.151T>C c.135T>C n.193T>C n.201T>C c.1457T>C (p.Met486Thr) c.1406T>C (p.Met469Thr) c.1394T>C (p.Met465Thr) c.1355T>C (p.Met452Thr) c.1343T>C (p.Met448Thr) n.2808T>C n.2745T>C n.2800T>C n.2794T>C n.2737T>C n.2618T>C | |
| 3 | g.57896882T>G | CA353412298 | SLMAP | c.1337T>G (p.Met446Arg) c.1400T>G (p.Met467Arg) c.1451T>G (p.Met484Arg) c.1277T>G (p.Met426Arg) c.1286T>G (p.Met429Arg) c.1226T>G (p.Met409Arg) c.1292T>G (p.Met431Arg) n.2889T>G c.589T>G c.2T>G (p.Met1Arg) c.*319T>G (n.*319T>G) c.224T>G c.*139T>G (n.*139T>G) c.269T>G c.*1088T>G (n.*1088T>G) c.346T>G c.1349T>G (p.Met450Arg) c.1388T>G (p.Met463Arg) c.222T>G c.151T>G c.135T>G n.193T>G n.201T>G c.1457T>G (p.Met486Arg) c.1406T>G (p.Met469Arg) c.1394T>G (p.Met465Arg) c.1355T>G (p.Met452Arg) c.1343T>G (p.Met448Arg) n.2808T>G n.2745T>G n.2800T>G n.2794T>G n.2737T>G n.2618T>G | |
| 3 | g.57896883G>A | CA353412304 | SLMAP | c.1338G>A (p.Met446Ile) c.1401G>A (p.Met467Ile) c.1452G>A (p.Met484Ile) c.1278G>A (p.Met426Ile) c.1287G>A (p.Met429Ile) c.1227G>A (p.Met409Ile) c.1293G>A (p.Met431Ile) n.2890G>A c.590G>A c.3G>A (p.Met1Ile) c.*320G>A (n.*320G>A) c.225G>A c.*140G>A (n.*140G>A) c.270G>A c.*1089G>A (n.*1089G>A) c.347G>A c.1350G>A (p.Met450Ile) c.1389G>A (p.Met463Ile) c.223G>A c.152G>A c.136G>A n.194G>A n.202G>A c.1458G>A (p.Met486Ile) c.1407G>A (p.Met469Ile) c.1395G>A (p.Met465Ile) c.1356G>A (p.Met452Ile) c.1344G>A (p.Met448Ile) n.2809G>A n.2746G>A n.2801G>A n.2795G>A n.2738G>A n.2619G>A | |
| 3 | g.57896883G>C | CA353412306 | SLMAP | c.1338G>C (p.Met446Ile) c.1401G>C (p.Met467Ile) c.1452G>C (p.Met484Ile) c.1278G>C (p.Met426Ile) c.1287G>C (p.Met429Ile) c.1227G>C (p.Met409Ile) c.1293G>C (p.Met431Ile) n.2890G>C c.590G>C c.3G>C (p.Met1Ile) c.*320G>C (n.*320G>C) c.225G>C c.*140G>C (n.*140G>C) c.270G>C c.*1089G>C (n.*1089G>C) c.347G>C c.1350G>C (p.Met450Ile) c.1389G>C (p.Met463Ile) c.223G>C c.152G>C c.136G>C n.194G>C n.202G>C c.1458G>C (p.Met486Ile) c.1407G>C (p.Met469Ile) c.1395G>C (p.Met465Ile) c.1356G>C (p.Met452Ile) c.1344G>C (p.Met448Ile) n.2809G>C n.2746G>C n.2801G>C n.2795G>C n.2738G>C n.2619G>C | |
| 3 | g.57896883G>T | CA353412308 | SLMAP | c.1338G>T (p.Met446Ile) c.1401G>T (p.Met467Ile) c.1452G>T (p.Met484Ile) c.1278G>T (p.Met426Ile) c.1287G>T (p.Met429Ile) c.1227G>T (p.Met409Ile) c.1293G>T (p.Met431Ile) n.2890G>T c.590G>T c.3G>T (p.Met1Ile) c.*320G>T (n.*320G>T) c.225G>T c.*140G>T (n.*140G>T) c.270G>T c.*1089G>T (n.*1089G>T) c.347G>T c.1350G>T (p.Met450Ile) c.1389G>T (p.Met463Ile) c.223G>T c.152G>T c.136G>T n.194G>T n.202G>T c.1458G>T (p.Met486Ile) c.1407G>T (p.Met469Ile) c.1395G>T (p.Met465Ile) c.1356G>T (p.Met452Ile) c.1344G>T (p.Met448Ile) n.2809G>T n.2746G>T n.2801G>T n.2795G>T n.2738G>T n.2619G>T | |
| 3 | g.57896884G>A | CA353412310 | SLMAP | c.1339G>A (p.Asp447Asn) c.1402G>A (p.Asp468Asn) c.1453G>A (p.Asp485Asn) c.1279G>A (p.Asp427Asn) c.1288G>A (p.Asp430Asn) c.1228G>A (p.Asp410Asn) c.1294G>A (p.Asp432Asn) n.2891G>A c.591G>A c.4G>A (p.Asp2Asn) c.*321G>A (n.*321G>A) c.226G>A c.*141G>A (n.*141G>A) c.271G>A c.*1090G>A (n.*1090G>A) c.348G>A c.1351G>A (p.Asp451Asn) c.1390G>A (p.Asp464Asn) c.224G>A c.153G>A c.137G>A n.195G>A n.203G>A c.1459G>A (p.Asp487Asn) c.1408G>A (p.Asp470Asn) c.1396G>A (p.Asp466Asn) c.1357G>A (p.Asp453Asn) c.1345G>A (p.Asp449Asn) n.2810G>A n.2747G>A n.2802G>A n.2796G>A n.2739G>A n.2620G>A | gnomAD v4 |
| 3 | g.57896884G>C | CA353412311 | SLMAP | c.1339G>C (p.Asp447His) c.1402G>C (p.Asp468His) c.1453G>C (p.Asp485His) c.1279G>C (p.Asp427His) c.1288G>C (p.Asp430His) c.1228G>C (p.Asp410His) c.1294G>C (p.Asp432His) n.2891G>C c.591G>C c.4G>C (p.Asp2His) c.*321G>C (n.*321G>C) c.226G>C c.*141G>C (n.*141G>C) c.271G>C c.*1090G>C (n.*1090G>C) c.348G>C c.1351G>C (p.Asp451His) c.1390G>C (p.Asp464His) c.224G>C c.153G>C c.137G>C n.195G>C n.203G>C c.1459G>C (p.Asp487His) c.1408G>C (p.Asp470His) c.1396G>C (p.Asp466His) c.1357G>C (p.Asp453His) c.1345G>C (p.Asp449His) n.2810G>C n.2747G>C n.2802G>C n.2796G>C n.2739G>C n.2620G>C | |
| 3 | g.57896884G>T | CA353412312 | SLMAP | c.1339G>T (p.Asp447Tyr) c.1402G>T (p.Asp468Tyr) c.1453G>T (p.Asp485Tyr) c.1279G>T (p.Asp427Tyr) c.1288G>T (p.Asp430Tyr) c.1228G>T (p.Asp410Tyr) c.1294G>T (p.Asp432Tyr) n.2891G>T c.591G>T c.4G>T (p.Asp2Tyr) c.*321G>T (n.*321G>T) c.226G>T c.*141G>T (n.*141G>T) c.271G>T c.*1090G>T (n.*1090G>T) c.348G>T c.1351G>T (p.Asp451Tyr) c.1390G>T (p.Asp464Tyr) c.224G>T c.153G>T c.137G>T n.195G>T n.203G>T c.1459G>T (p.Asp487Tyr) c.1408G>T (p.Asp470Tyr) c.1396G>T (p.Asp466Tyr) c.1357G>T (p.Asp453Tyr) c.1345G>T (p.Asp449Tyr) n.2810G>T n.2747G>T n.2802G>T n.2796G>T n.2739G>T n.2620G>T | |
| 3 | g.57896885A>C | CA353412313 | SLMAP | c.1340A>C (p.Asp447Ala) c.1403A>C (p.Asp468Ala) c.1454A>C (p.Asp485Ala) c.1280A>C (p.Asp427Ala) c.1289A>C (p.Asp430Ala) c.1229A>C (p.Asp410Ala) c.1295A>C (p.Asp432Ala) n.2892A>C c.592A>C c.5A>C (p.Asp2Ala) c.*322A>C (n.*322A>C) c.227A>C c.*142A>C (n.*142A>C) c.272A>C c.*1091A>C (n.*1091A>C) c.349A>C c.1352A>C (p.Asp451Ala) c.1391A>C (p.Asp464Ala) c.225A>C c.154A>C c.138A>C n.196A>C n.204A>C c.1460A>C (p.Asp487Ala) c.1409A>C (p.Asp470Ala) c.1397A>C (p.Asp466Ala) c.1358A>C (p.Asp453Ala) c.1346A>C (p.Asp449Ala) n.2811A>C n.2748A>C n.2803A>C n.2797A>C n.2740A>C n.2621A>C | |
| 3 | g.57896885A>G | CA353412316 | SLMAP | c.1340A>G (p.Asp447Gly) c.1403A>G (p.Asp468Gly) c.1454A>G (p.Asp485Gly) c.1280A>G (p.Asp427Gly) c.1289A>G (p.Asp430Gly) c.1229A>G (p.Asp410Gly) c.1295A>G (p.Asp432Gly) n.2892A>G c.592A>G c.5A>G (p.Asp2Gly) c.*322A>G (n.*322A>G) c.227A>G c.*142A>G (n.*142A>G) c.272A>G c.*1091A>G (n.*1091A>G) c.349A>G c.1352A>G (p.Asp451Gly) c.1391A>G (p.Asp464Gly) c.225A>G c.154A>G c.138A>G n.196A>G n.204A>G c.1460A>G (p.Asp487Gly) c.1409A>G (p.Asp470Gly) c.1397A>G (p.Asp466Gly) c.1358A>G (p.Asp453Gly) c.1346A>G (p.Asp449Gly) n.2811A>G n.2748A>G n.2803A>G n.2797A>G n.2740A>G n.2621A>G | |
| 3 | g.57896885A>T | CA353412315 | SLMAP | c.1340A>T (p.Asp447Val) c.1403A>T (p.Asp468Val) c.1454A>T (p.Asp485Val) c.1280A>T (p.Asp427Val) c.1289A>T (p.Asp430Val) c.1229A>T (p.Asp410Val) c.1295A>T (p.Asp432Val) n.2892A>T c.592A>T c.5A>T (p.Asp2Val) c.*322A>T (n.*322A>T) c.227A>T c.*142A>T (n.*142A>T) c.272A>T c.*1091A>T (n.*1091A>T) c.349A>T c.1352A>T (p.Asp451Val) c.1391A>T (p.Asp464Val) c.225A>T c.154A>T c.138A>T n.196A>T n.204A>T c.1460A>T (p.Asp487Val) c.1409A>T (p.Asp470Val) c.1397A>T (p.Asp466Val) c.1358A>T (p.Asp453Val) c.1346A>T (p.Asp449Val) n.2811A>T n.2748A>T n.2803A>T n.2797A>T n.2740A>T n.2621A>T | |
| 3 | g.57896886T>A | CA353412318 | SLMAP | c.1341T>A (p.Asp447Glu) c.1404T>A (p.Asp468Glu) c.1455T>A (p.Asp485Glu) c.1281T>A (p.Asp427Glu) c.1290T>A (p.Asp430Glu) c.1230T>A (p.Asp410Glu) c.1296T>A (p.Asp432Glu) n.2893T>A c.593T>A c.6T>A (p.Asp2Glu) c.*323T>A (n.*323T>A) c.228T>A c.*143T>A (n.*143T>A) c.273T>A c.*1092T>A (n.*1092T>A) c.350T>A c.1353T>A (p.Asp451Glu) c.1392T>A (p.Asp464Glu) c.226T>A c.155T>A c.139T>A n.197T>A n.205T>A c.1461T>A (p.Asp487Glu) c.1410T>A (p.Asp470Glu) c.1398T>A (p.Asp466Glu) c.1359T>A (p.Asp453Glu) c.1347T>A (p.Asp449Glu) n.2812T>A n.2749T>A n.2804T>A n.2798T>A n.2741T>A n.2622T>A | |
| 3 | g.57896886T>C | CA434104405 | SLMAP | c.1341T>C (p.Asp447=) c.1404T>C (p.Asp468=) c.1455T>C (p.Asp485=) c.1281T>C (p.Asp427=) c.1290T>C (p.Asp430=) c.1230T>C (p.Asp410=) c.1296T>C (p.Asp432=) n.2893T>C c.593T>C c.6T>C (p.Asp2=) c.*323T>C (n.*323T>C) c.228T>C c.*143T>C (n.*143T>C) c.273T>C c.*1092T>C (n.*1092T>C) c.350T>C c.1353T>C (p.Asp451=) c.1392T>C (p.Asp464=) c.226T>C c.155T>C c.139T>C n.197T>C n.205T>C c.1461T>C (p.Asp487=) c.1410T>C (p.Asp470=) c.1398T>C (p.Asp466=) c.1359T>C (p.Asp453=) c.1347T>C (p.Asp449=) n.2812T>C n.2749T>C n.2804T>C n.2798T>C n.2741T>C n.2622T>C | |
| 3 | g.57896886T>G | CA353412319 | SLMAP | c.1341T>G (p.Asp447Glu) c.1404T>G (p.Asp468Glu) c.1455T>G (p.Asp485Glu) c.1281T>G (p.Asp427Glu) c.1290T>G (p.Asp430Glu) c.1230T>G (p.Asp410Glu) c.1296T>G (p.Asp432Glu) n.2893T>G c.593T>G c.6T>G (p.Asp2Glu) c.*323T>G (n.*323T>G) c.228T>G c.*143T>G (n.*143T>G) c.273T>G c.*1092T>G (n.*1092T>G) c.350T>G c.1353T>G (p.Asp451Glu) c.1392T>G (p.Asp464Glu) c.226T>G c.155T>G c.139T>G n.197T>G n.205T>G c.1461T>G (p.Asp487Glu) c.1410T>G (p.Asp470Glu) c.1398T>G (p.Asp466Glu) c.1359T>G (p.Asp453Glu) c.1347T>G (p.Asp449Glu) n.2812T>G n.2749T>G n.2804T>G n.2798T>G n.2741T>G n.2622T>G | |
| 3 | g.57896887G>A | CA353412320 | SLMAP | c.1342G>A (p.Glu448Lys) c.1405G>A (p.Glu469Lys) c.1456G>A (p.Glu486Lys) c.1282G>A (p.Glu428Lys) c.1291G>A (p.Glu431Lys) c.1231G>A (p.Glu411Lys) c.1297G>A (p.Glu433Lys) n.2894G>A c.594G>A c.7G>A (p.Glu3Lys) c.*324G>A (n.*324G>A) c.229G>A c.*144G>A (n.*144G>A) c.274G>A c.*1093G>A (n.*1093G>A) c.351G>A c.1354G>A (p.Glu452Lys) c.1393G>A (p.Glu465Lys) c.227G>A c.156G>A c.140G>A n.198G>A n.206G>A c.1462G>A (p.Glu488Lys) c.1411G>A (p.Glu471Lys) c.1399G>A (p.Glu467Lys) c.1360G>A (p.Glu454Lys) c.1348G>A (p.Glu450Lys) n.2813G>A n.2750G>A n.2805G>A n.2799G>A n.2742G>A n.2623G>A | |
| 3 | g.57896887G>C | CA353412321 | SLMAP | c.1342G>C (p.Glu448Gln) c.1405G>C (p.Glu469Gln) c.1456G>C (p.Glu486Gln) c.1282G>C (p.Glu428Gln) c.1291G>C (p.Glu431Gln) c.1231G>C (p.Glu411Gln) c.1297G>C (p.Glu433Gln) n.2894G>C c.594G>C c.7G>C (p.Glu3Gln) c.*324G>C (n.*324G>C) c.229G>C c.*144G>C (n.*144G>C) c.274G>C c.*1093G>C (n.*1093G>C) c.351G>C c.1354G>C (p.Glu452Gln) c.1393G>C (p.Glu465Gln) c.227G>C c.156G>C c.140G>C n.198G>C n.206G>C c.1462G>C (p.Glu488Gln) c.1411G>C (p.Glu471Gln) c.1399G>C (p.Glu467Gln) c.1360G>C (p.Glu454Gln) c.1348G>C (p.Glu450Gln) n.2813G>C n.2750G>C n.2805G>C n.2799G>C n.2742G>C n.2623G>C |