Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.57896881delCA2666255765SLMAPc.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
3g.57896881A>CCA353412293SLMAPc.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
3g.57896881A>GCA353412294SLMAPc.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
3g.57896881A>TCA353412296SLMAPc.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
3g.57896882T>ACA353412301SLMAPc.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
3g.57896882T>CCA353412300SLMAPc.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
3g.57896882T>GCA353412298SLMAPc.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
3g.57896883G>ACA353412304SLMAPc.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
3g.57896883G>CCA353412306SLMAPc.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
3g.57896883G>TCA353412308SLMAPc.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
3g.57896884G>ACA353412310SLMAPc.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
3g.57896884G>CCA353412311SLMAPc.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
3g.57896884G>TCA353412312SLMAPc.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
3g.57896885A>CCA353412313SLMAPc.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
3g.57896885A>GCA353412316SLMAPc.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
3g.57896885A>TCA353412315SLMAPc.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
3g.57896886T>ACA353412318SLMAPc.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
3g.57896886T>CCA434104405SLMAPc.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
3g.57896886T>GCA353412319SLMAPc.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
3g.57896887G>ACA353412320SLMAPc.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
3g.57896887G>CCA353412321SLMAPc.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
3g.57896887G>TCA353412322SLMAPc.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
3g.57896888A=CA1367404667SLMAPc.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=
3g.57896888A>CCA353412323SLMAPc.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
3g.57896888A>GCA353412324SLMAPc.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
3g.57896888A>TCA2467149SLMAPc.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
3g.57896889G>ACA2467150SLMAPc.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
3g.57896889G>CCA353412326SLMAPc.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
3g.57896889G=CA1367404668SLMAPc.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=
3g.57896889G>TCA353412328SLMAPc.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
3g.57896890C>ACA353412333SLMAPc.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
3g.57896890C>GCA353412335SLMAPc.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
3g.57896890C>TCA353412334SLMAPc.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
3g.57896891A>CCA353412337SLMAPc.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
3g.57896891A>GCA353412343SLMAPc.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
3g.57896891A>TCA353412341SLMAPc.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
3g.57896892A>CCA353412345SLMAPc.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
3g.57896892A>GCA434104419SLMAPc.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
3g.57896892A>TCA353412347SLMAPc.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
3g.57896893G>ACA353412350SLMAPc.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
3g.57896893G>CCA353412351SLMAPc.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
3g.57896893G>TCA353412354SLMAPc.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
3g.57896894A=CA1367404669SLMAPc.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=
3g.57896894A>CCA353412355SLMAPc.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
3g.57896894A>GCA353412357SLMAPc.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
3g.57896894A>TCA353412359SLMAPc.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
3g.57896895C>ACA2467151SLMAPc.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
3g.57896895C=CA1367404670SLMAPc.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=
3g.57896895C>GCA353412362SLMAPc.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
3g.57896895C>TCA434104429SLMAPc.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

Number of alleles fetched