Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
3 | g.57896887G>T | CA353412322 | SLMAP | c.1342G>T (p.Glu448Ter) c.1405G>T (p.Glu469Ter) c.1456G>T (p.Glu486Ter) c.1282G>T (p.Glu428Ter) c.1291G>T (p.Glu431Ter) c.1231G>T (p.Glu411Ter) c.1297G>T (p.Glu433Ter) n.2894G>T c.594G>T c.7G>T (p.Glu3Ter) c.*324G>T (n.*324G>T) c.229G>T c.*144G>T (n.*144G>T) c.274G>T c.*1093G>T (n.*1093G>T) c.351G>T c.1354G>T (p.Glu452Ter) c.1393G>T (p.Glu465Ter) c.227G>T c.156G>T c.140G>T n.198G>T n.206G>T c.1462G>T (p.Glu488Ter) c.1411G>T (p.Glu471Ter) c.1399G>T (p.Glu467Ter) c.1360G>T (p.Glu454Ter) c.1348G>T (p.Glu450Ter) n.2813G>T n.2750G>T n.2805G>T n.2799G>T n.2742G>T n.2623G>T | |
3 | g.57896888A= | CA1367404667 | SLMAP | c.1343A= (p.Glu448=) c.1406A= (p.Glu469=) c.1457A= (p.Glu486=) c.1283A= (p.Glu428=) c.1292A= (p.Glu431=) c.1232A= (p.Glu411=) c.1298A= (p.Glu433=) n.2895A= c.595A= c.8A= (p.Glu3=) c.*325A= (n.*325A=) c.230A= c.*145A= (n.*145A=) c.275A= c.*1094A= (n.*1094A=) c.352A= c.1355A= (p.Glu452=) c.1394A= (p.Glu465=) c.228A= c.157A= c.141A= n.199A= n.207A= c.1463A= (p.Glu488=) c.1412A= (p.Glu471=) c.1400A= (p.Glu467=) c.1361A= (p.Glu454=) c.1349A= (p.Glu450=) n.2814A= n.2751A= n.2806A= n.2800A= n.2743A= n.2624A= | |
3 | g.57896888A>C | CA353412323 | SLMAP | c.1343A>C (p.Glu448Ala) c.1406A>C (p.Glu469Ala) c.1457A>C (p.Glu486Ala) c.1283A>C (p.Glu428Ala) c.1292A>C (p.Glu431Ala) c.1232A>C (p.Glu411Ala) c.1298A>C (p.Glu433Ala) n.2895A>C c.595A>C c.8A>C (p.Glu3Ala) c.*325A>C (n.*325A>C) c.230A>C c.*145A>C (n.*145A>C) c.275A>C c.*1094A>C (n.*1094A>C) c.352A>C c.1355A>C (p.Glu452Ala) c.1394A>C (p.Glu465Ala) c.228A>C c.157A>C c.141A>C n.199A>C n.207A>C c.1463A>C (p.Glu488Ala) c.1412A>C (p.Glu471Ala) c.1400A>C (p.Glu467Ala) c.1361A>C (p.Glu454Ala) c.1349A>C (p.Glu450Ala) n.2814A>C n.2751A>C n.2806A>C n.2800A>C n.2743A>C n.2624A>C | dbSNP |
3 | g.57896888A>G | CA353412324 | SLMAP | c.1343A>G (p.Glu448Gly) c.1406A>G (p.Glu469Gly) c.1457A>G (p.Glu486Gly) c.1283A>G (p.Glu428Gly) c.1292A>G (p.Glu431Gly) c.1232A>G (p.Glu411Gly) c.1298A>G (p.Glu433Gly) n.2895A>G c.595A>G c.8A>G (p.Glu3Gly) c.*325A>G (n.*325A>G) c.230A>G c.*145A>G (n.*145A>G) c.275A>G c.*1094A>G (n.*1094A>G) c.352A>G c.1355A>G (p.Glu452Gly) c.1394A>G (p.Glu465Gly) c.228A>G c.157A>G c.141A>G n.199A>G n.207A>G c.1463A>G (p.Glu488Gly) c.1412A>G (p.Glu471Gly) c.1400A>G (p.Glu467Gly) c.1361A>G (p.Glu454Gly) c.1349A>G (p.Glu450Gly) n.2814A>G n.2751A>G n.2806A>G n.2800A>G n.2743A>G n.2624A>G | |
3 | g.57896888A>T | CA2467149 | SLMAP | c.1343A>T (p.Glu448Val) c.1406A>T (p.Glu469Val) c.1457A>T (p.Glu486Val) c.1283A>T (p.Glu428Val) c.1292A>T (p.Glu431Val) c.1232A>T (p.Glu411Val) c.1298A>T (p.Glu433Val) n.2895A>T c.595A>T c.8A>T (p.Glu3Val) c.*325A>T (n.*325A>T) c.230A>T c.*145A>T (n.*145A>T) c.275A>T c.*1094A>T (n.*1094A>T) c.352A>T c.1355A>T (p.Glu452Val) c.1394A>T (p.Glu465Val) c.228A>T c.157A>T c.141A>T n.199A>T n.207A>T c.1463A>T (p.Glu488Val) c.1412A>T (p.Glu471Val) c.1400A>T (p.Glu467Val) c.1361A>T (p.Glu454Val) c.1349A>T (p.Glu450Val) n.2814A>T n.2751A>T n.2806A>T n.2800A>T n.2743A>T n.2624A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.57896889G>A | CA2467150 | SLMAP | c.1344G>A (p.Glu448=) c.1407G>A (p.Glu469=) c.1458G>A (p.Glu486=) c.1284G>A (p.Glu428=) c.1293G>A (p.Glu431=) c.1233G>A (p.Glu411=) c.1299G>A (p.Glu433=) n.2896G>A c.596G>A c.9G>A (p.Glu3=) c.*326G>A (n.*326G>A) c.231G>A c.*146G>A (n.*146G>A) c.276G>A c.*1095G>A (n.*1095G>A) c.353G>A c.1356G>A (p.Glu452=) c.1395G>A (p.Glu465=) c.229G>A c.158G>A c.142G>A n.200G>A n.208G>A c.1464G>A (p.Glu488=) c.1413G>A (p.Glu471=) c.1401G>A (p.Glu467=) c.1362G>A (p.Glu454=) c.1350G>A (p.Glu450=) n.2815G>A n.2752G>A n.2807G>A n.2801G>A n.2744G>A n.2625G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.57896889G>C | CA353412326 | SLMAP | c.1344G>C (p.Glu448Asp) c.1407G>C (p.Glu469Asp) c.1458G>C (p.Glu486Asp) c.1284G>C (p.Glu428Asp) c.1293G>C (p.Glu431Asp) c.1233G>C (p.Glu411Asp) c.1299G>C (p.Glu433Asp) n.2896G>C c.596G>C c.9G>C (p.Glu3Asp) c.*326G>C (n.*326G>C) c.231G>C c.*146G>C (n.*146G>C) c.276G>C c.*1095G>C (n.*1095G>C) c.353G>C c.1356G>C (p.Glu452Asp) c.1395G>C (p.Glu465Asp) c.229G>C c.158G>C c.142G>C n.200G>C n.208G>C c.1464G>C (p.Glu488Asp) c.1413G>C (p.Glu471Asp) c.1401G>C (p.Glu467Asp) c.1362G>C (p.Glu454Asp) c.1350G>C (p.Glu450Asp) n.2815G>C n.2752G>C n.2807G>C n.2801G>C n.2744G>C n.2625G>C | |
3 | g.57896889G= | CA1367404668 | SLMAP | c.1344G= (p.Glu448=) c.1407G= (p.Glu469=) c.1458G= (p.Glu486=) c.1284G= (p.Glu428=) c.1293G= (p.Glu431=) c.1233G= (p.Glu411=) c.1299G= (p.Glu433=) n.2896G= c.596G= c.9G= (p.Glu3=) c.*326G= (n.*326G=) c.231G= c.*146G= (n.*146G=) c.276G= c.*1095G= (n.*1095G=) c.353G= c.1356G= (p.Glu452=) c.1395G= (p.Glu465=) c.229G= c.158G= c.142G= n.200G= n.208G= c.1464G= (p.Glu488=) c.1413G= (p.Glu471=) c.1401G= (p.Glu467=) c.1362G= (p.Glu454=) c.1350G= (p.Glu450=) n.2815G= n.2752G= n.2807G= n.2801G= n.2744G= n.2625G= | |
3 | g.57896889G>T | CA353412328 | SLMAP | c.1344G>T (p.Glu448Asp) c.1407G>T (p.Glu469Asp) c.1458G>T (p.Glu486Asp) c.1284G>T (p.Glu428Asp) c.1293G>T (p.Glu431Asp) c.1233G>T (p.Glu411Asp) c.1299G>T (p.Glu433Asp) n.2896G>T c.596G>T c.9G>T (p.Glu3Asp) c.*326G>T (n.*326G>T) c.231G>T c.*146G>T (n.*146G>T) c.276G>T c.*1095G>T (n.*1095G>T) c.353G>T c.1356G>T (p.Glu452Asp) c.1395G>T (p.Glu465Asp) c.229G>T c.158G>T c.142G>T n.200G>T n.208G>T c.1464G>T (p.Glu488Asp) c.1413G>T (p.Glu471Asp) c.1401G>T (p.Glu467Asp) c.1362G>T (p.Glu454Asp) c.1350G>T (p.Glu450Asp) n.2815G>T n.2752G>T n.2807G>T n.2801G>T n.2744G>T n.2625G>T | COSMIC COSMIC COSMIC COSMIC |
3 | g.57896890C>A | CA353412333 | SLMAP | c.1345C>A (p.Gln449Lys) c.1408C>A (p.Gln470Lys) c.1459C>A (p.Gln487Lys) c.1285C>A (p.Gln429Lys) c.1294C>A (p.Gln432Lys) c.1234C>A (p.Gln412Lys) c.1300C>A (p.Gln434Lys) n.2897C>A c.597C>A c.10C>A (p.Gln4Lys) c.*327C>A (n.*327C>A) c.232C>A c.*147C>A (n.*147C>A) c.277C>A c.*1096C>A (n.*1096C>A) c.354C>A c.1357C>A (p.Gln453Lys) c.1396C>A (p.Gln466Lys) c.230C>A c.159C>A c.143C>A n.201C>A n.209C>A c.1465C>A (p.Gln489Lys) c.1414C>A (p.Gln472Lys) c.1402C>A (p.Gln468Lys) c.1363C>A (p.Gln455Lys) c.1351C>A (p.Gln451Lys) n.2816C>A n.2753C>A n.2808C>A n.2802C>A n.2745C>A n.2626C>A | |
3 | g.57896890C>G | CA353412335 | SLMAP | c.1345C>G (p.Gln449Glu) c.1408C>G (p.Gln470Glu) c.1459C>G (p.Gln487Glu) c.1285C>G (p.Gln429Glu) c.1294C>G (p.Gln432Glu) c.1234C>G (p.Gln412Glu) c.1300C>G (p.Gln434Glu) n.2897C>G c.597C>G c.10C>G (p.Gln4Glu) c.*327C>G (n.*327C>G) c.232C>G c.*147C>G (n.*147C>G) c.277C>G c.*1096C>G (n.*1096C>G) c.354C>G c.1357C>G (p.Gln453Glu) c.1396C>G (p.Gln466Glu) c.230C>G c.159C>G c.143C>G n.201C>G n.209C>G c.1465C>G (p.Gln489Glu) c.1414C>G (p.Gln472Glu) c.1402C>G (p.Gln468Glu) c.1363C>G (p.Gln455Glu) c.1351C>G (p.Gln451Glu) n.2816C>G n.2753C>G n.2808C>G n.2802C>G n.2745C>G n.2626C>G | |
3 | g.57896890C>T | CA353412334 | SLMAP | c.1345C>T (p.Gln449Ter) c.1408C>T (p.Gln470Ter) c.1459C>T (p.Gln487Ter) c.1285C>T (p.Gln429Ter) c.1294C>T (p.Gln432Ter) c.1234C>T (p.Gln412Ter) c.1300C>T (p.Gln434Ter) n.2897C>T c.597C>T c.10C>T (p.Gln4Ter) c.*327C>T (n.*327C>T) c.232C>T c.*147C>T (n.*147C>T) c.277C>T c.*1096C>T (n.*1096C>T) c.354C>T c.1357C>T (p.Gln453Ter) c.1396C>T (p.Gln466Ter) c.230C>T c.159C>T c.143C>T n.201C>T n.209C>T c.1465C>T (p.Gln489Ter) c.1414C>T (p.Gln472Ter) c.1402C>T (p.Gln468Ter) c.1363C>T (p.Gln455Ter) c.1351C>T (p.Gln451Ter) n.2816C>T n.2753C>T n.2808C>T n.2802C>T n.2745C>T n.2626C>T | gnomAD v4 |
3 | g.57896891A>C | CA353412337 | SLMAP | c.1346A>C (p.Gln449Pro) c.1409A>C (p.Gln470Pro) c.1460A>C (p.Gln487Pro) c.1286A>C (p.Gln429Pro) c.1295A>C (p.Gln432Pro) c.1235A>C (p.Gln412Pro) c.1301A>C (p.Gln434Pro) n.2898A>C c.598A>C c.11A>C (p.Gln4Pro) c.*328A>C (n.*328A>C) c.233A>C c.*148A>C (n.*148A>C) c.278A>C c.*1097A>C (n.*1097A>C) c.355A>C c.1358A>C (p.Gln453Pro) c.1397A>C (p.Gln466Pro) c.231A>C c.160A>C c.144A>C n.202A>C n.210A>C c.1466A>C (p.Gln489Pro) c.1415A>C (p.Gln472Pro) c.1403A>C (p.Gln468Pro) c.1364A>C (p.Gln455Pro) c.1352A>C (p.Gln451Pro) n.2817A>C n.2754A>C n.2809A>C n.2803A>C n.2746A>C n.2627A>C | |
3 | g.57896891A>G | CA353412343 | SLMAP | c.1346A>G (p.Gln449Arg) c.1409A>G (p.Gln470Arg) c.1460A>G (p.Gln487Arg) c.1286A>G (p.Gln429Arg) c.1295A>G (p.Gln432Arg) c.1235A>G (p.Gln412Arg) c.1301A>G (p.Gln434Arg) n.2898A>G c.598A>G c.11A>G (p.Gln4Arg) c.*328A>G (n.*328A>G) c.233A>G c.*148A>G (n.*148A>G) c.278A>G c.*1097A>G (n.*1097A>G) c.355A>G c.1358A>G (p.Gln453Arg) c.1397A>G (p.Gln466Arg) c.231A>G c.160A>G c.144A>G n.202A>G n.210A>G c.1466A>G (p.Gln489Arg) c.1415A>G (p.Gln472Arg) c.1403A>G (p.Gln468Arg) c.1364A>G (p.Gln455Arg) c.1352A>G (p.Gln451Arg) n.2817A>G n.2754A>G n.2809A>G n.2803A>G n.2746A>G n.2627A>G | |
3 | g.57896891A>T | CA353412341 | SLMAP | c.1346A>T (p.Gln449Leu) c.1409A>T (p.Gln470Leu) c.1460A>T (p.Gln487Leu) c.1286A>T (p.Gln429Leu) c.1295A>T (p.Gln432Leu) c.1235A>T (p.Gln412Leu) c.1301A>T (p.Gln434Leu) n.2898A>T c.598A>T c.11A>T (p.Gln4Leu) c.*328A>T (n.*328A>T) c.233A>T c.*148A>T (n.*148A>T) c.278A>T c.*1097A>T (n.*1097A>T) c.355A>T c.1358A>T (p.Gln453Leu) c.1397A>T (p.Gln466Leu) c.231A>T c.160A>T c.144A>T n.202A>T n.210A>T c.1466A>T (p.Gln489Leu) c.1415A>T (p.Gln472Leu) c.1403A>T (p.Gln468Leu) c.1364A>T (p.Gln455Leu) c.1352A>T (p.Gln451Leu) n.2817A>T n.2754A>T n.2809A>T n.2803A>T n.2746A>T n.2627A>T | |
3 | g.57896892A>C | CA353412345 | SLMAP | c.1347A>C (p.Gln449His) c.1410A>C (p.Gln470His) c.1461A>C (p.Gln487His) c.1287A>C (p.Gln429His) c.1296A>C (p.Gln432His) c.1236A>C (p.Gln412His) c.1302A>C (p.Gln434His) n.2899A>C c.599A>C c.12A>C (p.Gln4His) c.*329A>C (n.*329A>C) c.234A>C c.*149A>C (n.*149A>C) c.279A>C c.*1098A>C (n.*1098A>C) c.356A>C c.1359A>C (p.Gln453His) c.1398A>C (p.Gln466His) c.232A>C c.161A>C c.145A>C n.203A>C n.211A>C c.1467A>C (p.Gln489His) c.1416A>C (p.Gln472His) c.1404A>C (p.Gln468His) c.1365A>C (p.Gln455His) c.1353A>C (p.Gln451His) n.2818A>C n.2755A>C n.2810A>C n.2804A>C n.2747A>C n.2628A>C | |
3 | g.57896892A>G | CA434104419 | SLMAP | c.1347A>G (p.Gln449=) c.1410A>G (p.Gln470=) c.1461A>G (p.Gln487=) c.1287A>G (p.Gln429=) c.1296A>G (p.Gln432=) c.1236A>G (p.Gln412=) c.1302A>G (p.Gln434=) n.2899A>G c.599A>G c.12A>G (p.Gln4=) c.*329A>G (n.*329A>G) c.234A>G c.*149A>G (n.*149A>G) c.279A>G c.*1098A>G (n.*1098A>G) c.356A>G c.1359A>G (p.Gln453=) c.1398A>G (p.Gln466=) c.232A>G c.161A>G c.145A>G n.203A>G n.211A>G c.1467A>G (p.Gln489=) c.1416A>G (p.Gln472=) c.1404A>G (p.Gln468=) c.1365A>G (p.Gln455=) c.1353A>G (p.Gln451=) n.2818A>G n.2755A>G n.2810A>G n.2804A>G n.2747A>G n.2628A>G | |
3 | g.57896892A>T | CA353412347 | SLMAP | c.1347A>T (p.Gln449His) c.1410A>T (p.Gln470His) c.1461A>T (p.Gln487His) c.1287A>T (p.Gln429His) c.1296A>T (p.Gln432His) c.1236A>T (p.Gln412His) c.1302A>T (p.Gln434His) n.2899A>T c.599A>T c.12A>T (p.Gln4His) c.*329A>T (n.*329A>T) c.234A>T c.*149A>T (n.*149A>T) c.279A>T c.*1098A>T (n.*1098A>T) c.356A>T c.1359A>T (p.Gln453His) c.1398A>T (p.Gln466His) c.232A>T c.161A>T c.145A>T n.203A>T n.211A>T c.1467A>T (p.Gln489His) c.1416A>T (p.Gln472His) c.1404A>T (p.Gln468His) c.1365A>T (p.Gln455His) c.1353A>T (p.Gln451His) n.2818A>T n.2755A>T n.2810A>T n.2804A>T n.2747A>T n.2628A>T | |
3 | g.57896893G>A | CA353412350 | SLMAP | c.1348G>A (p.Asp450Asn) c.1411G>A (p.Asp471Asn) c.1462G>A (p.Asp488Asn) c.1288G>A (p.Asp430Asn) c.1297G>A (p.Asp433Asn) c.1237G>A (p.Asp413Asn) c.1303G>A (p.Asp435Asn) n.2900G>A c.600G>A c.13G>A (p.Asp5Asn) c.*330G>A (n.*330G>A) c.235G>A c.*150G>A (n.*150G>A) c.280G>A c.*1099G>A (n.*1099G>A) c.357G>A c.1360G>A (p.Asp454Asn) c.1399G>A (p.Asp467Asn) c.233G>A c.162G>A c.146G>A n.204G>A n.212G>A c.1468G>A (p.Asp490Asn) c.1417G>A (p.Asp473Asn) c.1405G>A (p.Asp469Asn) c.1366G>A (p.Asp456Asn) c.1354G>A (p.Asp452Asn) n.2819G>A n.2756G>A n.2811G>A n.2805G>A n.2748G>A n.2629G>A | |
3 | g.57896893G>C | CA353412351 | SLMAP | c.1348G>C (p.Asp450His) c.1411G>C (p.Asp471His) c.1462G>C (p.Asp488His) c.1288G>C (p.Asp430His) c.1297G>C (p.Asp433His) c.1237G>C (p.Asp413His) c.1303G>C (p.Asp435His) n.2900G>C c.600G>C c.13G>C (p.Asp5His) c.*330G>C (n.*330G>C) c.235G>C c.*150G>C (n.*150G>C) c.280G>C c.*1099G>C (n.*1099G>C) c.357G>C c.1360G>C (p.Asp454His) c.1399G>C (p.Asp467His) c.233G>C c.162G>C c.146G>C n.204G>C n.212G>C c.1468G>C (p.Asp490His) c.1417G>C (p.Asp473His) c.1405G>C (p.Asp469His) c.1366G>C (p.Asp456His) c.1354G>C (p.Asp452His) n.2819G>C n.2756G>C n.2811G>C n.2805G>C n.2748G>C n.2629G>C | COSMIC COSMIC COSMIC |
3 | g.57896893G>T | CA353412354 | SLMAP | c.1348G>T (p.Asp450Tyr) c.1411G>T (p.Asp471Tyr) c.1462G>T (p.Asp488Tyr) c.1288G>T (p.Asp430Tyr) c.1297G>T (p.Asp433Tyr) c.1237G>T (p.Asp413Tyr) c.1303G>T (p.Asp435Tyr) n.2900G>T c.600G>T c.13G>T (p.Asp5Tyr) c.*330G>T (n.*330G>T) c.235G>T c.*150G>T (n.*150G>T) c.280G>T c.*1099G>T (n.*1099G>T) c.357G>T c.1360G>T (p.Asp454Tyr) c.1399G>T (p.Asp467Tyr) c.233G>T c.162G>T c.146G>T n.204G>T n.212G>T c.1468G>T (p.Asp490Tyr) c.1417G>T (p.Asp473Tyr) c.1405G>T (p.Asp469Tyr) c.1366G>T (p.Asp456Tyr) c.1354G>T (p.Asp452Tyr) n.2819G>T n.2756G>T n.2811G>T n.2805G>T n.2748G>T n.2629G>T | ClinVar |
3 | g.57896894A= | CA1367404669 | SLMAP | c.1349A= (p.Asp450=) c.1412A= (p.Asp471=) c.1463A= (p.Asp488=) c.1289A= (p.Asp430=) c.1298A= (p.Asp433=) c.1238A= (p.Asp413=) c.1304A= (p.Asp435=) n.2901A= c.601A= c.14A= (p.Asp5=) c.*331A= (n.*331A=) c.236A= c.*151A= (n.*151A=) c.281A= c.*1100A= (n.*1100A=) c.358A= c.1361A= (p.Asp454=) c.1400A= (p.Asp467=) c.234A= c.163A= c.147A= n.205A= n.213A= c.1469A= (p.Asp490=) c.1418A= (p.Asp473=) c.1406A= (p.Asp469=) c.1367A= (p.Asp456=) c.1355A= (p.Asp452=) n.2820A= n.2757A= n.2812A= n.2806A= n.2749A= n.2630A= | |
3 | g.57896894A>C | CA353412355 | SLMAP | c.1349A>C (p.Asp450Ala) c.1412A>C (p.Asp471Ala) c.1463A>C (p.Asp488Ala) c.1289A>C (p.Asp430Ala) c.1298A>C (p.Asp433Ala) c.1238A>C (p.Asp413Ala) c.1304A>C (p.Asp435Ala) n.2901A>C c.601A>C c.14A>C (p.Asp5Ala) c.*331A>C (n.*331A>C) c.236A>C c.*151A>C (n.*151A>C) c.281A>C c.*1100A>C (n.*1100A>C) c.358A>C c.1361A>C (p.Asp454Ala) c.1400A>C (p.Asp467Ala) c.234A>C c.163A>C c.147A>C n.205A>C n.213A>C c.1469A>C (p.Asp490Ala) c.1418A>C (p.Asp473Ala) c.1406A>C (p.Asp469Ala) c.1367A>C (p.Asp456Ala) c.1355A>C (p.Asp452Ala) n.2820A>C n.2757A>C n.2812A>C n.2806A>C n.2749A>C n.2630A>C | |
3 | g.57896894A>G | CA353412357 | SLMAP | c.1349A>G (p.Asp450Gly) c.1412A>G (p.Asp471Gly) c.1463A>G (p.Asp488Gly) c.1289A>G (p.Asp430Gly) c.1298A>G (p.Asp433Gly) c.1238A>G (p.Asp413Gly) c.1304A>G (p.Asp435Gly) n.2901A>G c.601A>G c.14A>G (p.Asp5Gly) c.*331A>G (n.*331A>G) c.236A>G c.*151A>G (n.*151A>G) c.281A>G c.*1100A>G (n.*1100A>G) c.358A>G c.1361A>G (p.Asp454Gly) c.1400A>G (p.Asp467Gly) c.234A>G c.163A>G c.147A>G n.205A>G n.213A>G c.1469A>G (p.Asp490Gly) c.1418A>G (p.Asp473Gly) c.1406A>G (p.Asp469Gly) c.1367A>G (p.Asp456Gly) c.1355A>G (p.Asp452Gly) n.2820A>G n.2757A>G n.2812A>G n.2806A>G n.2749A>G n.2630A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.57896894A>T | CA353412359 | SLMAP | c.1349A>T (p.Asp450Val) c.1412A>T (p.Asp471Val) c.1463A>T (p.Asp488Val) c.1289A>T (p.Asp430Val) c.1298A>T (p.Asp433Val) c.1238A>T (p.Asp413Val) c.1304A>T (p.Asp435Val) n.2901A>T c.601A>T c.14A>T (p.Asp5Val) c.*331A>T (n.*331A>T) c.236A>T c.*151A>T (n.*151A>T) c.281A>T c.*1100A>T (n.*1100A>T) c.358A>T c.1361A>T (p.Asp454Val) c.1400A>T (p.Asp467Val) c.234A>T c.163A>T c.147A>T n.205A>T n.213A>T c.1469A>T (p.Asp490Val) c.1418A>T (p.Asp473Val) c.1406A>T (p.Asp469Val) c.1367A>T (p.Asp456Val) c.1355A>T (p.Asp452Val) n.2820A>T n.2757A>T n.2812A>T n.2806A>T n.2749A>T n.2630A>T | |
3 | g.57896895C>A | CA2467151 | SLMAP | c.1350C>A (p.Asp450Glu) c.1413C>A (p.Asp471Glu) c.1464C>A (p.Asp488Glu) c.1290C>A (p.Asp430Glu) c.1299C>A (p.Asp433Glu) c.1239C>A (p.Asp413Glu) c.1305C>A (p.Asp435Glu) n.2902C>A c.602C>A c.15C>A (p.Asp5Glu) c.*332C>A (n.*332C>A) c.237C>A c.*152C>A (n.*152C>A) c.282C>A c.*1101C>A (n.*1101C>A) c.359C>A c.1362C>A (p.Asp454Glu) c.1401C>A (p.Asp467Glu) c.235C>A c.164C>A c.148C>A n.206C>A n.214C>A c.1470C>A (p.Asp490Glu) c.1419C>A (p.Asp473Glu) c.1407C>A (p.Asp469Glu) c.1368C>A (p.Asp456Glu) c.1356C>A (p.Asp452Glu) n.2821C>A n.2758C>A n.2813C>A n.2807C>A n.2750C>A n.2631C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.57896895C= | CA1367404670 | SLMAP | c.1350C= (p.Asp450=) c.1413C= (p.Asp471=) c.1464C= (p.Asp488=) c.1290C= (p.Asp430=) c.1299C= (p.Asp433=) c.1239C= (p.Asp413=) c.1305C= (p.Asp435=) n.2902C= c.602C= c.15C= (p.Asp5=) c.*332C= (n.*332C=) c.237C= c.*152C= (n.*152C=) c.282C= c.*1101C= (n.*1101C=) c.359C= c.1362C= (p.Asp454=) c.1401C= (p.Asp467=) c.235C= c.164C= c.148C= n.206C= n.214C= c.1470C= (p.Asp490=) c.1419C= (p.Asp473=) c.1407C= (p.Asp469=) c.1368C= (p.Asp456=) c.1356C= (p.Asp452=) n.2821C= n.2758C= n.2813C= n.2807C= n.2750C= n.2631C= | |
3 | g.57896895C>G | CA353412362 | SLMAP | c.1350C>G (p.Asp450Glu) c.1413C>G (p.Asp471Glu) c.1464C>G (p.Asp488Glu) c.1290C>G (p.Asp430Glu) c.1299C>G (p.Asp433Glu) c.1239C>G (p.Asp413Glu) c.1305C>G (p.Asp435Glu) n.2902C>G c.602C>G c.15C>G (p.Asp5Glu) c.*332C>G (n.*332C>G) c.237C>G c.*152C>G (n.*152C>G) c.282C>G c.*1101C>G (n.*1101C>G) c.359C>G c.1362C>G (p.Asp454Glu) c.1401C>G (p.Asp467Glu) c.235C>G c.164C>G c.148C>G n.206C>G n.214C>G c.1470C>G (p.Asp490Glu) c.1419C>G (p.Asp473Glu) c.1407C>G (p.Asp469Glu) c.1368C>G (p.Asp456Glu) c.1356C>G (p.Asp452Glu) n.2821C>G n.2758C>G n.2813C>G n.2807C>G n.2750C>G n.2631C>G | |
3 | g.57896895C>T | CA434104429 | SLMAP | c.1350C>T (p.Asp450=) c.1413C>T (p.Asp471=) c.1464C>T (p.Asp488=) c.1290C>T (p.Asp430=) c.1299C>T (p.Asp433=) c.1239C>T (p.Asp413=) c.1305C>T (p.Asp435=) n.2902C>T c.602C>T c.15C>T (p.Asp5=) c.*332C>T (n.*332C>T) c.237C>T c.*152C>T (n.*152C>T) c.282C>T c.*1101C>T (n.*1101C>T) c.359C>T c.1362C>T (p.Asp454=) c.1401C>T (p.Asp467=) c.235C>T c.164C>T c.148C>T n.206C>T n.214C>T c.1470C>T (p.Asp490=) c.1419C>T (p.Asp473=) c.1407C>T (p.Asp469=) c.1368C>T (p.Asp456=) c.1356C>T (p.Asp452=) n.2821C>T n.2758C>T n.2813C>T n.2807C>T n.2750C>T n.2631C>T | dbSNP gnomAD v4 |
3 | g.57896896C>A | CA353412364 | SLMAP | c.1351C>A (p.Leu451Ile) c.1414C>A (p.Leu472Ile) c.1465C>A (p.Leu489Ile) c.1291C>A (p.Leu431Ile) c.1300C>A (p.Leu434Ile) c.1240C>A (p.Leu414Ile) c.1306C>A (p.Leu436Ile) n.2903C>A c.603C>A c.16C>A (p.Leu6Ile) c.*333C>A (n.*333C>A) c.238C>A c.*153C>A (n.*153C>A) c.283C>A c.*1102C>A (n.*1102C>A) c.360C>A c.1363C>A (p.Leu455Ile) c.1402C>A (p.Leu468Ile) c.236C>A c.165C>A c.149C>A n.207C>A n.215C>A c.1471C>A (p.Leu491Ile) c.1420C>A (p.Leu474Ile) c.1408C>A (p.Leu470Ile) c.1369C>A (p.Leu457Ile) c.1357C>A (p.Leu453Ile) n.2822C>A n.2759C>A n.2814C>A n.2808C>A n.2751C>A n.2632C>A | gnomAD v4 |
3 | g.57896896C= | CA1367404671 | SLMAP | c.1351C= (p.Leu451=) c.1414C= (p.Leu472=) c.1465C= (p.Leu489=) c.1291C= (p.Leu431=) c.1300C= (p.Leu434=) c.1240C= (p.Leu414=) c.1306C= (p.Leu436=) n.2903C= c.603C= c.16C= (p.Leu6=) c.*333C= (n.*333C=) c.238C= c.*153C= (n.*153C=) c.283C= c.*1102C= (n.*1102C=) c.360C= c.1363C= (p.Leu455=) c.1402C= (p.Leu468=) c.236C= c.165C= c.149C= n.207C= n.215C= c.1471C= (p.Leu491=) c.1420C= (p.Leu474=) c.1408C= (p.Leu470=) c.1369C= (p.Leu457=) c.1357C= (p.Leu453=) n.2822C= n.2759C= n.2814C= n.2808C= n.2751C= n.2632C= | |
3 | g.57896896C>G | CA353412366 | SLMAP | c.1351C>G (p.Leu451Val) c.1414C>G (p.Leu472Val) c.1465C>G (p.Leu489Val) c.1291C>G (p.Leu431Val) c.1300C>G (p.Leu434Val) c.1240C>G (p.Leu414Val) c.1306C>G (p.Leu436Val) n.2903C>G c.603C>G c.16C>G (p.Leu6Val) c.*333C>G (n.*333C>G) c.238C>G c.*153C>G (n.*153C>G) c.283C>G c.*1102C>G (n.*1102C>G) c.360C>G c.1363C>G (p.Leu455Val) c.1402C>G (p.Leu468Val) c.236C>G c.165C>G c.149C>G n.207C>G n.215C>G c.1471C>G (p.Leu491Val) c.1420C>G (p.Leu474Val) c.1408C>G (p.Leu470Val) c.1369C>G (p.Leu457Val) c.1357C>G (p.Leu453Val) n.2822C>G n.2759C>G n.2814C>G n.2808C>G n.2751C>G n.2632C>G | |
3 | g.57896896C>T | CA434104433 | SLMAP | c.1351C>T (p.Leu451=) c.1414C>T (p.Leu472=) c.1465C>T (p.Leu489=) c.1291C>T (p.Leu431=) c.1300C>T (p.Leu434=) c.1240C>T (p.Leu414=) c.1306C>T (p.Leu436=) n.2903C>T c.603C>T c.16C>T (p.Leu6=) c.*333C>T (n.*333C>T) c.238C>T c.*153C>T (n.*153C>T) c.283C>T c.*1102C>T (n.*1102C>T) c.360C>T c.1363C>T (p.Leu455=) c.1402C>T (p.Leu468=) c.236C>T c.165C>T c.149C>T n.207C>T n.215C>T c.1471C>T (p.Leu491=) c.1420C>T (p.Leu474=) c.1408C>T (p.Leu470=) c.1369C>T (p.Leu457=) c.1357C>T (p.Leu453=) n.2822C>T n.2759C>T n.2814C>T n.2808C>T n.2751C>T n.2632C>T | |
3 | g.57896897T>A | CA353412372 | SLMAP | c.1352T>A (p.Leu451Gln) c.1415T>A (p.Leu472Gln) c.1466T>A (p.Leu489Gln) c.1292T>A (p.Leu431Gln) c.1301T>A (p.Leu434Gln) c.1241T>A (p.Leu414Gln) c.1307T>A (p.Leu436Gln) n.2904T>A c.604T>A c.17T>A (p.Leu6Gln) c.*334T>A (n.*334T>A) c.239T>A c.*154T>A (n.*154T>A) c.284T>A c.*1103T>A (n.*1103T>A) c.361T>A c.1364T>A (p.Leu455Gln) c.1403T>A (p.Leu468Gln) c.237T>A c.166T>A c.150T>A n.208T>A n.216T>A c.1472T>A (p.Leu491Gln) c.1421T>A (p.Leu474Gln) c.1409T>A (p.Leu470Gln) c.1370T>A (p.Leu457Gln) c.1358T>A (p.Leu453Gln) n.2823T>A n.2760T>A n.2815T>A n.2809T>A n.2752T>A n.2633T>A | |
3 | g.57896897T>C | CA353412368 | SLMAP | c.1352T>C (p.Leu451Pro) c.1415T>C (p.Leu472Pro) c.1466T>C (p.Leu489Pro) c.1292T>C (p.Leu431Pro) c.1301T>C (p.Leu434Pro) c.1241T>C (p.Leu414Pro) c.1307T>C (p.Leu436Pro) n.2904T>C c.604T>C c.17T>C (p.Leu6Pro) c.*334T>C (n.*334T>C) c.239T>C c.*154T>C (n.*154T>C) c.284T>C c.*1103T>C (n.*1103T>C) c.361T>C c.1364T>C (p.Leu455Pro) c.1403T>C (p.Leu468Pro) c.237T>C c.166T>C c.150T>C n.208T>C n.216T>C c.1472T>C (p.Leu491Pro) c.1421T>C (p.Leu474Pro) c.1409T>C (p.Leu470Pro) c.1370T>C (p.Leu457Pro) c.1358T>C (p.Leu453Pro) n.2823T>C n.2760T>C n.2815T>C n.2809T>C n.2752T>C n.2633T>C | |
3 | g.57896897T>G | CA353412370 | SLMAP | c.1352T>G (p.Leu451Arg) c.1415T>G (p.Leu472Arg) c.1466T>G (p.Leu489Arg) c.1292T>G (p.Leu431Arg) c.1301T>G (p.Leu434Arg) c.1241T>G (p.Leu414Arg) c.1307T>G (p.Leu436Arg) n.2904T>G c.604T>G c.17T>G (p.Leu6Arg) c.*334T>G (n.*334T>G) c.239T>G c.*154T>G (n.*154T>G) c.284T>G c.*1103T>G (n.*1103T>G) c.361T>G c.1364T>G (p.Leu455Arg) c.1403T>G (p.Leu468Arg) c.237T>G c.166T>G c.150T>G n.208T>G n.216T>G c.1472T>G (p.Leu491Arg) c.1421T>G (p.Leu474Arg) c.1409T>G (p.Leu470Arg) c.1370T>G (p.Leu457Arg) c.1358T>G (p.Leu453Arg) n.2823T>G n.2760T>G n.2815T>G n.2809T>G n.2752T>G n.2633T>G |