| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.4816954C>A | CA403489681 | TICAM1 | c.1424G>T (p.Ser475Ile) c.1007G>T (p.Ser336Ile) c.1382G>T (p.Ser461Ile) c.1289G>T (p.Ser430Ile) c.782G>T (p.Ser261Ile) | |
| 19 | g.4816954C>G | CA403489683 | TICAM1 | c.1424G>C (p.Ser475Thr) c.1007G>C (p.Ser336Thr) c.1382G>C (p.Ser461Thr) c.1289G>C (p.Ser430Thr) c.782G>C (p.Ser261Thr) | |
| 19 | g.4816954C>T | CA403489684 | TICAM1 | c.1424G>A (p.Ser475Asn) c.1007G>A (p.Ser336Asn) c.1382G>A (p.Ser461Asn) c.1289G>A (p.Ser430Asn) c.782G>A (p.Ser261Asn) | gnomAD v4 |
| 19 | g.4816955T>A | CA403489687 | TICAM1 | c.1423A>T (p.Ser475Cys) c.1006A>T (p.Ser336Cys) c.1381A>T (p.Ser461Cys) c.1288A>T (p.Ser430Cys) c.781A>T (p.Ser261Cys) | |
| 19 | g.4816955T>C | CA403489689 | TICAM1 | c.1423A>G (p.Ser475Gly) c.1006A>G (p.Ser336Gly) c.1381A>G (p.Ser461Gly) c.1288A>G (p.Ser430Gly) c.781A>G (p.Ser261Gly) | |
| 19 | g.4816955T>G | CA403489691 | TICAM1 | c.1423A>C (p.Ser475Arg) c.1006A>C (p.Ser336Arg) c.1381A>C (p.Ser461Arg) c.1288A>C (p.Ser430Arg) c.781A>C (p.Ser261Arg) | |
| 19 | g.4816956C>A | CA403489692 | TICAM1 | c.1422G>T (p.Met474Ile) c.1005G>T (p.Met335Ile) c.1380G>T (p.Met460Ile) c.1287G>T (p.Met429Ile) c.780G>T (p.Met260Ile) | |
| 19 | g.4816956C= | CA2319605091 | TICAM1 | c.1422G= (p.Met474=) c.1005G= (p.Met335=) c.1380G= (p.Met460=) c.1287G= (p.Met429=) c.780G= (p.Met260=) | |
| 19 | g.4816956C>G | CA403489693 | TICAM1 | c.1422G>C (p.Met474Ile) c.1005G>C (p.Met335Ile) c.1380G>C (p.Met460Ile) c.1287G>C (p.Met429Ile) c.780G>C (p.Met260Ile) | |
| 19 | g.4816956C>T | CA9105142 | TICAM1 | c.1422G>A (p.Met474Ile) c.1005G>A (p.Met335Ile) c.1380G>A (p.Met460Ile) c.1287G>A (p.Met429Ile) c.780G>A (p.Met260Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816957A= | CA2319605092 | TICAM1 | c.1421T= (p.Met474=) c.1004T= (p.Met335=) c.1379T= (p.Met460=) c.1286T= (p.Met429=) c.779T= (p.Met260=) | |
| 19 | g.4816957A>C | CA403489694 | TICAM1 | c.1421T>G (p.Met474Arg) c.1004T>G (p.Met335Arg) c.1379T>G (p.Met460Arg) c.1286T>G (p.Met429Arg) c.779T>G (p.Met260Arg) | ClinVar dbSNP gnomAD v4 |
| 19 | g.4816957A>G | CA403489695 | TICAM1 | c.1421T>C (p.Met474Thr) c.1004T>C (p.Met335Thr) c.1379T>C (p.Met460Thr) c.1286T>C (p.Met429Thr) c.779T>C (p.Met260Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816957A>T | CA403489696 | TICAM1 | c.1421T>A (p.Met474Lys) c.1004T>A (p.Met335Lys) c.1379T>A (p.Met460Lys) c.1286T>A (p.Met429Lys) c.779T>A (p.Met260Lys) | |
| 19 | g.4816958T>A | CA403489697 | TICAM1 | c.1420A>T (p.Met474Leu) c.1003A>T (p.Met335Leu) c.1378A>T (p.Met460Leu) c.1285A>T (p.Met429Leu) c.778A>T (p.Met260Leu) | |
| 19 | g.4816958T>C | CA403489701 | TICAM1 | c.1420A>G (p.Met474Val) c.1003A>G (p.Met335Val) c.1378A>G (p.Met460Val) c.1285A>G (p.Met429Val) c.778A>G (p.Met260Val) | |
| 19 | g.4816958T>G | CA403489699 | TICAM1 | c.1420A>C (p.Met474Leu) c.1003A>C (p.Met335Leu) c.1378A>C (p.Met460Leu) c.1285A>C (p.Met429Leu) c.778A>C (p.Met260Leu) | |
| 19 | g.4816959C>A | CA403489702 | TICAM1 | c.1419G>T (p.Met473Ile) c.1002G>T (p.Met334Ile) c.1377G>T (p.Met459Ile) c.1284G>T (p.Met428Ile) c.777G>T (p.Met259Ile) | |
| 19 | g.4816959C= | CA2319605093 | TICAM1 | c.1419G= (p.Met473=) c.1002G= (p.Met334=) c.1377G= (p.Met459=) c.1284G= (p.Met428=) c.777G= (p.Met259=) | |
| 19 | g.4816959C>G | CA403489704 | TICAM1 | c.1419G>C (p.Met473Ile) c.1002G>C (p.Met334Ile) c.1377G>C (p.Met459Ile) c.1284G>C (p.Met428Ile) c.777G>C (p.Met259Ile) | |
| 19 | g.4816959C>T | CA9105143 | TICAM1 | c.1419G>A (p.Met473Ile) c.1002G>A (p.Met334Ile) c.1377G>A (p.Met459Ile) c.1284G>A (p.Met428Ile) c.777G>A (p.Met259Ile) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.4816960A>C | CA403489708 | TICAM1 | c.1418T>G (p.Met473Arg) c.1001T>G (p.Met334Arg) c.1376T>G (p.Met459Arg) c.1283T>G (p.Met428Arg) c.776T>G (p.Met259Arg) | |
| 19 | g.4816960A>G | CA403489709 | TICAM1 | c.1418T>C (p.Met473Thr) c.1001T>C (p.Met334Thr) c.1376T>C (p.Met459Thr) c.1283T>C (p.Met428Thr) c.776T>C (p.Met259Thr) | |
| 19 | g.4816960A>T | CA403489710 | TICAM1 | c.1418T>A (p.Met473Lys) c.1001T>A (p.Met334Lys) c.1376T>A (p.Met459Lys) c.1283T>A (p.Met428Lys) c.776T>A (p.Met259Lys) | |
| 19 | g.4816961T>A | CA403489711 | TICAM1 | c.1417A>T (p.Met473Leu) c.1000A>T (p.Met334Leu) c.1375A>T (p.Met459Leu) c.1282A>T (p.Met428Leu) c.775A>T (p.Met259Leu) | |
| 19 | g.4816961T>C | CA403489713 | TICAM1 | c.1417A>G (p.Met473Val) c.1000A>G (p.Met334Val) c.1375A>G (p.Met459Val) c.1282A>G (p.Met428Val) c.775A>G (p.Met259Val) | dbSNP gnomAD v4 |
| 19 | g.4816961T>G | CA403489715 | TICAM1 | c.1417A>C (p.Met473Leu) c.1000A>C (p.Met334Leu) c.1375A>C (p.Met459Leu) c.1282A>C (p.Met428Leu) c.775A>C (p.Met259Leu) | |
| 19 | g.4816961T= | CA2319605094 | TICAM1 | c.1417A= (p.Met473=) c.1000A= (p.Met334=) c.1375A= (p.Met459=) c.1282A= (p.Met428=) c.775A= (p.Met259=) | |
| 19 | g.4816962G>A | CA505174238 | TICAM1 | c.1416C>T (p.Ala472=) c.999C>T (p.Ala333=) c.1374C>T (p.Ala458=) c.1281C>T (p.Ala427=) c.774C>T (p.Ala258=) | |
| 19 | g.4816962G>C | CA505174239 | TICAM1 | c.1416C>G (p.Ala472=) c.999C>G (p.Ala333=) c.1374C>G (p.Ala458=) c.1281C>G (p.Ala427=) c.774C>G (p.Ala258=) | |
| 19 | g.4816962G>T | CA505174241 | TICAM1 | c.1416C>A (p.Ala472=) c.999C>A (p.Ala333=) c.1374C>A (p.Ala458=) c.1281C>A (p.Ala427=) c.774C>A (p.Ala258=) | ClinVar |
| 19 | g.4816963G>A | CA403489720 | TICAM1 | c.1415C>T (p.Ala472Val) c.998C>T (p.Ala333Val) c.1373C>T (p.Ala458Val) c.1280C>T (p.Ala427Val) c.773C>T (p.Ala258Val) | |
| 19 | g.4816963G>C | CA403489722 | TICAM1 | c.1415C>G (p.Ala472Gly) c.998C>G (p.Ala333Gly) c.1373C>G (p.Ala458Gly) c.1280C>G (p.Ala427Gly) c.773C>G (p.Ala258Gly) | |
| 19 | g.4816963G>T | CA403489718 | TICAM1 | c.1415C>A (p.Ala472Asp) c.998C>A (p.Ala333Asp) c.1373C>A (p.Ala458Asp) c.1280C>A (p.Ala427Asp) c.773C>A (p.Ala258Asp) | |
| 19 | g.4816964C>A | CA403489725 | TICAM1 | c.1414G>T (p.Ala472Ser) c.997G>T (p.Ala333Ser) c.1372G>T (p.Ala458Ser) c.1279G>T (p.Ala427Ser) c.772G>T (p.Ala258Ser) | |
| 19 | g.4816964C= | CA2319605095 | TICAM1 | c.1414G= (p.Ala472=) c.997G= (p.Ala333=) c.1372G= (p.Ala458=) c.1279G= (p.Ala427=) c.772G= (p.Ala258=) | |
| 19 | g.4816964C>G | CA403489726 | TICAM1 | c.1414G>C (p.Ala472Pro) c.997G>C (p.Ala333Pro) c.1372G>C (p.Ala458Pro) c.1279G>C (p.Ala427Pro) c.772G>C (p.Ala258Pro) | |
| 19 | g.4816964C>T | CA9105144 | TICAM1 | c.1414G>A (p.Ala472Thr) c.997G>A (p.Ala333Thr) c.1372G>A (p.Ala458Thr) c.1279G>A (p.Ala427Thr) c.772G>A (p.Ala258Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816965T>A | CA403489730 | TICAM1 | c.1413A>T (p.Gln471His) c.996A>T (p.Gln332His) c.1371A>T (p.Gln457His) c.1278A>T (p.Gln426His) c.771A>T (p.Gln257His) | |
| 19 | g.4816965T>C | CA505174245 | TICAM1 | c.1413A>G (p.Gln471=) c.996A>G (p.Gln332=) c.1371A>G (p.Gln457=) c.1278A>G (p.Gln426=) c.771A>G (p.Gln257=) | |
| 19 | g.4816965T>G | CA403489731 | TICAM1 | c.1413A>C (p.Gln471His) c.996A>C (p.Gln332His) c.1371A>C (p.Gln457His) c.1278A>C (p.Gln426His) c.771A>C (p.Gln257His) | |
| 19 | g.4816966T>A | CA403489737 | TICAM1 | c.1412A>T (p.Gln471Leu) c.995A>T (p.Gln332Leu) c.1370A>T (p.Gln457Leu) c.1277A>T (p.Gln426Leu) c.770A>T (p.Gln257Leu) | |
| 19 | g.4816966T>C | CA403489735 | TICAM1 | c.1412A>G (p.Gln471Arg) c.995A>G (p.Gln332Arg) c.1370A>G (p.Gln457Arg) c.1277A>G (p.Gln426Arg) c.770A>G (p.Gln257Arg) | |
| 19 | g.4816966T>G | CA403489736 | TICAM1 | c.1412A>C (p.Gln471Pro) c.995A>C (p.Gln332Pro) c.1370A>C (p.Gln457Pro) c.1277A>C (p.Gln426Pro) c.770A>C (p.Gln257Pro) | |
| 19 | g.4816970_4816978del | CA2576579905 | TICAM1 | c.1404_1412del (p.Val469_Gln471del) c.987_995del (p.Val330_Gln332del) c.1362_1370del (p.Val455_Gln457del) c.1269_1277del (p.Val424_Gln426del) c.762_770del (p.Val255_Gln257del) | |
| 19 | g.4816967G>A | CA403489740 | TICAM1 | c.1411C>T (p.Gln471Ter) c.994C>T (p.Gln332Ter) c.1369C>T (p.Gln457Ter) c.1276C>T (p.Gln426Ter) c.769C>T (p.Gln257Ter) | |
| 19 | g.4816967G>C | CA403489741 | TICAM1 | c.1411C>G (p.Gln471Glu) c.994C>G (p.Gln332Glu) c.1369C>G (p.Gln457Glu) c.1276C>G (p.Gln426Glu) c.769C>G (p.Gln257Glu) | |
| 19 | g.4816967G>T | CA403489742 | TICAM1 | c.1411C>A (p.Gln471Lys) c.994C>A (p.Gln332Lys) c.1369C>A (p.Gln457Lys) c.1276C>A (p.Gln426Lys) c.769C>A (p.Gln257Lys) | |
| 19 | g.4816968G>A | CA304547468 | TICAM1 | c.1410C>T (p.Asn470=) c.993C>T (p.Asn331=) c.1368C>T (p.Asn456=) c.1275C>T (p.Asn425=) c.768C>T (p.Asn256=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816968G>C | CA403489745 | TICAM1 | c.1410C>G (p.Asn470Lys) c.993C>G (p.Asn331Lys) c.1368C>G (p.Asn456Lys) c.1275C>G (p.Asn425Lys) c.768C>G (p.Asn256Lys) | ClinVar dbSNP |
| 19 | g.4816968G= | CA2319605096 | TICAM1 | c.1410C= (p.Asn470=) c.993C= (p.Asn331=) c.1368C= (p.Asn456=) c.1275C= (p.Asn425=) c.768C= (p.Asn256=) | |
| 19 | g.4816968G>T | CA9105145 | TICAM1 | c.1410C>A (p.Asn470Lys) c.993C>A (p.Asn331Lys) c.1368C>A (p.Asn456Lys) c.1275C>A (p.Asn425Lys) c.768C>A (p.Asn256Lys) | dbSNP ExAC gnomAD v2 |
| 19 | g.4816969T>A | CA403489747 | TICAM1 | c.1409A>T (p.Asn470Ile) c.992A>T (p.Asn331Ile) c.1367A>T (p.Asn456Ile) c.1274A>T (p.Asn425Ile) c.767A>T (p.Asn256Ile) | |
| 19 | g.4816969T>C | CA403489751 | TICAM1 | c.1409A>G (p.Asn470Ser) c.992A>G (p.Asn331Ser) c.1367A>G (p.Asn456Ser) c.1274A>G (p.Asn425Ser) c.767A>G (p.Asn256Ser) | gnomAD v4 |
| 19 | g.4816969T>G | CA403489749 | TICAM1 | c.1409A>C (p.Asn470Thr) c.992A>C (p.Asn331Thr) c.1367A>C (p.Asn456Thr) c.1274A>C (p.Asn425Thr) c.767A>C (p.Asn256Thr) | |
| 19 | g.4816970T>A | CA403489752 | TICAM1 | c.1408A>T (p.Asn470Tyr) c.991A>T (p.Asn331Tyr) c.1366A>T (p.Asn456Tyr) c.1273A>T (p.Asn425Tyr) c.766A>T (p.Asn256Tyr) | |
| 19 | g.4816970T>C | CA403489753 | TICAM1 | c.1408A>G (p.Asn470Asp) c.991A>G (p.Asn331Asp) c.1366A>G (p.Asn456Asp) c.1273A>G (p.Asn425Asp) c.766A>G (p.Asn256Asp) | |
| 19 | g.4816970T>G | CA403489754 | TICAM1 | c.1408A>C (p.Asn470His) c.991A>C (p.Asn331His) c.1366A>C (p.Asn456His) c.1273A>C (p.Asn425His) c.766A>C (p.Asn256His) | |
| 19 | g.4816971C>A | CA505174255 | TICAM1 | c.1407G>T (p.Val469=) c.990G>T (p.Val330=) c.1365G>T (p.Val455=) c.1272G>T (p.Val424=) c.765G>T (p.Val255=) | |
| 19 | g.4816971C>G | CA505174257 | TICAM1 | c.1407G>C (p.Val469=) c.990G>C (p.Val330=) c.1365G>C (p.Val455=) c.1272G>C (p.Val424=) c.765G>C (p.Val255=) | |
| 19 | g.4816971C>T | CA505174256 | TICAM1 | c.1407G>A (p.Val469=) c.990G>A (p.Val330=) c.1365G>A (p.Val455=) c.1272G>A (p.Val424=) c.765G>A (p.Val255=) | |
| 19 | g.4816972A>C | CA403489756 | TICAM1 | c.1406T>G (p.Val469Gly) c.989T>G (p.Val330Gly) c.1364T>G (p.Val455Gly) c.1271T>G (p.Val424Gly) c.764T>G (p.Val255Gly) | |
| 19 | g.4816972A>G | CA403489757 | TICAM1 | c.1406T>C (p.Val469Ala) c.989T>C (p.Val330Ala) c.1364T>C (p.Val455Ala) c.1271T>C (p.Val424Ala) c.764T>C (p.Val255Ala) | |
| 19 | g.4816972A>T | CA403489758 | TICAM1 | c.1406T>A (p.Val469Glu) c.989T>A (p.Val330Glu) c.1364T>A (p.Val455Glu) c.1271T>A (p.Val424Glu) c.764T>A (p.Val255Glu) | |
| 19 | g.4816973C>A | CA403489761 | TICAM1 | c.1405G>T (p.Val469Leu) c.988G>T (p.Val330Leu) c.1363G>T (p.Val455Leu) c.1270G>T (p.Val424Leu) c.763G>T (p.Val255Leu) | |
| 19 | g.4816973C= | CA2319605097 | TICAM1 | c.1405G= (p.Val469=) c.988G= (p.Val330=) c.1363G= (p.Val455=) c.1270G= (p.Val424=) c.763G= (p.Val255=) | |
| 19 | g.4816973C>G | CA403489762 | TICAM1 | c.1405G>C (p.Val469Leu) c.988G>C (p.Val330Leu) c.1363G>C (p.Val455Leu) c.1270G>C (p.Val424Leu) c.763G>C (p.Val255Leu) | |
| 19 | g.4816973C>T | CA304547477 | TICAM1 | c.1405G>A (p.Val469Met) c.988G>A (p.Val330Met) c.1363G>A (p.Val455Met) c.1270G>A (p.Val424Met) c.763G>A (p.Val255Met) | dbSNP gnomAD v4 |
| 19 | g.4816974C>A | CA403489766 | TICAM1 | c.1404G>T (p.Gln468His) c.987G>T (p.Gln329His) c.1362G>T (p.Gln454His) c.1269G>T (p.Gln423His) c.762G>T (p.Gln254His) | |
| 19 | g.4816974C>G | CA403489767 | TICAM1 | c.1404G>C (p.Gln468His) c.987G>C (p.Gln329His) c.1362G>C (p.Gln454His) c.1269G>C (p.Gln423His) c.762G>C (p.Gln254His) | gnomAD v4 |
| 19 | g.4816974C>T | CA505174261 | TICAM1 | c.1404G>A (p.Gln468=) c.987G>A (p.Gln329=) c.1362G>A (p.Gln454=) c.1269G>A (p.Gln423=) c.762G>A (p.Gln254=) | |
| 19 | g.4816975T>A | CA403489772 | TICAM1 | c.1403A>T (p.Gln468Leu) c.986A>T (p.Gln329Leu) c.1361A>T (p.Gln454Leu) c.1268A>T (p.Gln423Leu) c.761A>T (p.Gln254Leu) | |
| 19 | g.4816975T>C | CA403489773 | TICAM1 | c.1403A>G (p.Gln468Arg) c.986A>G (p.Gln329Arg) c.1361A>G (p.Gln454Arg) c.1268A>G (p.Gln423Arg) c.761A>G (p.Gln254Arg) | |
| 19 | g.4816975T>G | CA403489770 | TICAM1 | c.1403A>C (p.Gln468Pro) c.986A>C (p.Gln329Pro) c.1361A>C (p.Gln454Pro) c.1268A>C (p.Gln423Pro) c.761A>C (p.Gln254Pro) | |
| 19 | g.4816976G>A | CA403489775 | TICAM1 | c.1402C>T (p.Gln468Ter) c.985C>T (p.Gln329Ter) c.1360C>T (p.Gln454Ter) c.1267C>T (p.Gln423Ter) c.760C>T (p.Gln254Ter) | dbSNP |
| 19 | g.4816976G>C | CA403489777 | TICAM1 | c.1402C>G (p.Gln468Glu) c.985C>G (p.Gln329Glu) c.1360C>G (p.Gln454Glu) c.1267C>G (p.Gln423Glu) c.760C>G (p.Gln254Glu) | dbSNP |
| 19 | g.4816976G= | CA2319605098 | TICAM1 | c.1402C= (p.Gln468=) c.985C= (p.Gln329=) c.1360C= (p.Gln454=) c.1267C= (p.Gln423=) c.760C= (p.Gln254=) | |
| 19 | g.4816976G>T | CA403489779 | TICAM1 | c.1402C>A (p.Gln468Lys) c.985C>A (p.Gln329Lys) c.1360C>A (p.Gln454Lys) c.1267C>A (p.Gln423Lys) c.760C>A (p.Gln254Lys) | |
| 19 | g.4816977G>A | CA505174265 | TICAM1 | c.1401C>T (p.His467=) c.984C>T (p.His328=) c.1359C>T (p.His453=) c.1266C>T (p.His422=) c.759C>T (p.His253=) | |
| 19 | g.4816977G>C | CA403489781 | TICAM1 | c.1401C>G (p.His467Gln) c.984C>G (p.His328Gln) c.1359C>G (p.His453Gln) c.1266C>G (p.His422Gln) c.759C>G (p.His253Gln) | |
| 19 | g.4816977G= | CA2319605099 | TICAM1 | c.1401C= (p.His467=) c.984C= (p.His328=) c.1359C= (p.His453=) c.1266C= (p.His422=) c.759C= (p.His253=) | |
| 19 | g.4816977G>T | CA9105146 | TICAM1 | c.1401C>A (p.His467Gln) c.984C>A (p.His328Gln) c.1359C>A (p.His453Gln) c.1266C>A (p.His422Gln) c.759C>A (p.His253Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.4816978T>A | CA403489785 | TICAM1 | c.1400A>T (p.His467Leu) c.983A>T (p.His328Leu) c.1358A>T (p.His453Leu) c.1265A>T (p.His422Leu) c.758A>T (p.His253Leu) | |
| 19 | g.4816978T>C | CA403489786 | TICAM1 | c.1400A>G (p.His467Arg) c.983A>G (p.His328Arg) c.1358A>G (p.His453Arg) c.1265A>G (p.His422Arg) c.758A>G (p.His253Arg) | |
| 19 | g.4816978T>G | CA403489787 | TICAM1 | c.1400A>C (p.His467Pro) c.983A>C (p.His328Pro) c.1358A>C (p.His453Pro) c.1265A>C (p.His422Pro) c.758A>C (p.His253Pro) | dbSNP |
| 19 | g.4816978T= | CA2319605100 | TICAM1 | c.1400A= (p.His467=) c.983A= (p.His328=) c.1358A= (p.His453=) c.1265A= (p.His422=) c.758A= (p.His253=) | |
| 19 | g.4816979G>A | CA403489789 | TICAM1 | c.1399C>T (p.His467Tyr) c.982C>T (p.His328Tyr) c.1357C>T (p.His453Tyr) c.1264C>T (p.His422Tyr) c.757C>T (p.His253Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816979G>C | CA403489791 | TICAM1 | c.1399C>G (p.His467Asp) c.982C>G (p.His328Asp) c.1357C>G (p.His453Asp) c.1264C>G (p.His422Asp) c.757C>G (p.His253Asp) | |
| 19 | g.4816979G= | CA2319605101 | TICAM1 | c.1399C= (p.His467=) c.982C= (p.His328=) c.1357C= (p.His453=) c.1264C= (p.His422=) c.757C= (p.His253=) | |
| 19 | g.4816979G>T | CA403489792 | TICAM1 | c.1399C>A (p.His467Asn) c.982C>A (p.His328Asn) c.1357C>A (p.His453Asn) c.1264C>A (p.His422Asn) c.757C>A (p.His253Asn) | |
| 19 | g.4816980C>A | CA505174270 | TICAM1 | c.1398G>T (p.Leu466=) c.981G>T (p.Leu327=) c.1356G>T (p.Leu452=) c.1263G>T (p.Leu421=) c.756G>T (p.Leu252=) | dbSNP |
| 19 | g.4816980C= | CA2319605102 | TICAM1 | c.1398G= (p.Leu466=) c.981G= (p.Leu327=) c.1356G= (p.Leu452=) c.1263G= (p.Leu421=) c.756G= (p.Leu252=) | |
| 19 | g.4816980C>G | CA505174271 | TICAM1 | c.1398G>C (p.Leu466=) c.981G>C (p.Leu327=) c.1356G>C (p.Leu452=) c.1263G>C (p.Leu421=) c.756G>C (p.Leu252=) | gnomAD v4 |
| 19 | g.4816980C>T | CA505174272 | TICAM1 | c.1398G>A (p.Leu466=) c.981G>A (p.Leu327=) c.1356G>A (p.Leu452=) c.1263G>A (p.Leu421=) c.756G>A (p.Leu252=) | |
| 19 | g.4816981A>C | CA403489794 | TICAM1 | c.1397T>G (p.Leu466Arg) c.980T>G (p.Leu327Arg) c.1355T>G (p.Leu452Arg) c.1262T>G (p.Leu421Arg) c.755T>G (p.Leu252Arg) | |
| 19 | g.4816981A>G | CA403489796 | TICAM1 | c.1397T>C (p.Leu466Pro) c.980T>C (p.Leu327Pro) c.1355T>C (p.Leu452Pro) c.1262T>C (p.Leu421Pro) c.755T>C (p.Leu252Pro) | |
| 19 | g.4816981A>T | CA403489798 | TICAM1 | c.1397T>A (p.Leu466Gln) c.980T>A (p.Leu327Gln) c.1355T>A (p.Leu452Gln) c.1262T>A (p.Leu421Gln) c.755T>A (p.Leu252Gln) | |
| 19 | g.4816982G>A | CA505174274 | TICAM1 | c.1396C>T (p.Leu466=) c.979C>T (p.Leu327=) c.1354C>T (p.Leu452=) c.1261C>T (p.Leu421=) c.754C>T (p.Leu252=) | gnomAD v4 |
| 19 | g.4816982G>C | CA403489801 | TICAM1 | c.1396C>G (p.Leu466Val) c.979C>G (p.Leu327Val) c.1354C>G (p.Leu452Val) c.1261C>G (p.Leu421Val) c.754C>G (p.Leu252Val) | |
| 19 | g.4816982G>T | CA403489802 | TICAM1 | c.1396C>A (p.Leu466Met) c.979C>A (p.Leu327Met) c.1354C>A (p.Leu452Met) c.1261C>A (p.Leu421Met) c.754C>A (p.Leu252Met) | |
| 19 | g.4816983G>A | CA505174276 | TICAM1 | c.1395C>T (p.Ser465=) c.978C>T (p.Ser326=) c.1353C>T (p.Ser451=) c.1260C>T (p.Ser420=) c.753C>T (p.Ser251=) | |
| 19 | g.4816983G>C | CA403489804 | TICAM1 | c.1395C>G (p.Ser465Arg) c.978C>G (p.Ser326Arg) c.1353C>G (p.Ser451Arg) c.1260C>G (p.Ser420Arg) c.753C>G (p.Ser251Arg) | gnomAD v4 |
| 19 | g.4816983G>T | CA403489806 | TICAM1 | c.1395C>A (p.Ser465Arg) c.978C>A (p.Ser326Arg) c.1353C>A (p.Ser451Arg) c.1260C>A (p.Ser420Arg) c.753C>A (p.Ser251Arg) | |
| 19 | g.4816984C>A | CA403489807 | TICAM1 | c.1394G>T (p.Ser465Ile) c.977G>T (p.Ser326Ile) c.1352G>T (p.Ser451Ile) c.1259G>T (p.Ser420Ile) c.752G>T (p.Ser251Ile) | |
| 19 | g.4816984C>G | CA403489808 | TICAM1 | c.1394G>C (p.Ser465Thr) c.977G>C (p.Ser326Thr) c.1352G>C (p.Ser451Thr) c.1259G>C (p.Ser420Thr) c.752G>C (p.Ser251Thr) | |
| 19 | g.4816984C>T | CA403489809 | TICAM1 | c.1394G>A (p.Ser465Asn) c.977G>A (p.Ser326Asn) c.1352G>A (p.Ser451Asn) c.1259G>A (p.Ser420Asn) c.752G>A (p.Ser251Asn) | |
| 19 | g.4816985T>A | CA403489811 | TICAM1 | c.1393A>T (p.Ser465Cys) c.976A>T (p.Ser326Cys) c.1351A>T (p.Ser451Cys) c.1258A>T (p.Ser420Cys) c.751A>T (p.Ser251Cys) | |
| 19 | g.4816985T>C | CA403489813 | TICAM1 | c.1393A>G (p.Ser465Gly) c.976A>G (p.Ser326Gly) c.1351A>G (p.Ser451Gly) c.1258A>G (p.Ser420Gly) c.751A>G (p.Ser251Gly) | |
| 19 | g.4816985T>G | CA403489814 | TICAM1 | c.1393A>C (p.Ser465Arg) c.976A>C (p.Ser326Arg) c.1351A>C (p.Ser451Arg) c.1258A>C (p.Ser420Arg) c.751A>C (p.Ser251Arg) | |
| 19 | g.4816986C>A | CA505174279 | TICAM1 | c.1392G>T (p.Leu464=) c.975G>T (p.Leu325=) c.1350G>T (p.Leu450=) c.1257G>T (p.Leu419=) c.750G>T (p.Leu250=) | |
| 19 | g.4816986C>G | CA505174278 | TICAM1 | c.1392G>C (p.Leu464=) c.975G>C (p.Leu325=) c.1350G>C (p.Leu450=) c.1257G>C (p.Leu419=) c.750G>C (p.Leu250=) | |
| 19 | g.4816986C>T | CA505174277 | TICAM1 | c.1392G>A (p.Leu464=) c.975G>A (p.Leu325=) c.1350G>A (p.Leu450=) c.1257G>A (p.Leu419=) c.750G>A (p.Leu250=) | |
| 19 | g.4816987A>C | CA403489817 | TICAM1 | c.1391T>G (p.Leu464Arg) c.974T>G (p.Leu325Arg) c.1349T>G (p.Leu450Arg) c.1256T>G (p.Leu419Arg) c.749T>G (p.Leu250Arg) | |
| 19 | g.4816987A>G | CA403489819 | TICAM1 | c.1391T>C (p.Leu464Pro) c.974T>C (p.Leu325Pro) c.1349T>C (p.Leu450Pro) c.1256T>C (p.Leu419Pro) c.749T>C (p.Leu250Pro) | gnomAD v4 |
| 19 | g.4816987A>T | CA403489820 | TICAM1 | c.1391T>A (p.Leu464Gln) c.974T>A (p.Leu325Gln) c.1349T>A (p.Leu450Gln) c.1256T>A (p.Leu419Gln) c.749T>A (p.Leu250Gln) | |
| 19 | g.4816988G>A | CA505174280 | TICAM1 | c.1390C>T (p.Leu464=) c.973C>T (p.Leu325=) c.1348C>T (p.Leu450=) c.1255C>T (p.Leu419=) c.748C>T (p.Leu250=) | |
| 19 | g.4816988G>C | CA403489821 | TICAM1 | c.1390C>G (p.Leu464Val) c.973C>G (p.Leu325Val) c.1348C>G (p.Leu450Val) c.1255C>G (p.Leu419Val) c.748C>G (p.Leu250Val) | gnomAD v4 |
| 19 | g.4816988G>T | CA403489823 | TICAM1 | c.1390C>A (p.Leu464Met) c.973C>A (p.Leu325Met) c.1348C>A (p.Leu450Met) c.1255C>A (p.Leu419Met) c.748C>A (p.Leu250Met) | |
| 19 | g.4816989G>A | CA505174281 | TICAM1 | c.1389C>T (p.Arg463=) c.972C>T (p.Arg324=) c.1347C>T (p.Arg449=) c.1254C>T (p.Arg418=) c.747C>T (p.Arg249=) | gnomAD v4 |
| 19 | g.4816989G>C | CA505174282 | TICAM1 | c.1389C>G (p.Arg463=) c.972C>G (p.Arg324=) c.1347C>G (p.Arg449=) c.1254C>G (p.Arg418=) c.747C>G (p.Arg249=) | |
| 19 | g.4816989G>T | CA505174284 | TICAM1 | c.1389C>A (p.Arg463=) c.972C>A (p.Arg324=) c.1347C>A (p.Arg449=) c.1254C>A (p.Arg418=) c.747C>A (p.Arg249=) | |
| 19 | g.4816990C>A | CA403489825 | TICAM1 | c.1388G>T (p.Arg463Leu) c.971G>T (p.Arg324Leu) c.1346G>T (p.Arg449Leu) c.1253G>T (p.Arg418Leu) c.746G>T (p.Arg249Leu) | |
| 19 | g.4816990C= | CA2319605103 | TICAM1 | c.1388G= (p.Arg463=) c.971G= (p.Arg324=) c.1346G= (p.Arg449=) c.1253G= (p.Arg418=) c.746G= (p.Arg249=) | |
| 19 | g.4816990C>G | CA403489829 | TICAM1 | c.1388G>C (p.Arg463Pro) c.971G>C (p.Arg324Pro) c.1346G>C (p.Arg449Pro) c.1253G>C (p.Arg418Pro) c.746G>C (p.Arg249Pro) | |
| 19 | g.4816990C>T | CA403489827 | TICAM1 | c.1388G>A (p.Arg463His) c.971G>A (p.Arg324His) c.1346G>A (p.Arg449His) c.1253G>A (p.Arg418His) c.746G>A (p.Arg249His) | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.4816991G>A | CA403489831 | TICAM1 | c.1387C>T (p.Arg463Cys) c.970C>T (p.Arg324Cys) c.1345C>T (p.Arg449Cys) c.1252C>T (p.Arg418Cys) c.745C>T (p.Arg249Cys) | dbSNP |
| 19 | g.4816991G>C | CA403489833 | TICAM1 | c.1387C>G (p.Arg463Gly) c.970C>G (p.Arg324Gly) c.1345C>G (p.Arg449Gly) c.1252C>G (p.Arg418Gly) c.745C>G (p.Arg249Gly) | dbSNP |
| 19 | g.4816991G= | CA2319605104 | TICAM1 | c.1387C= (p.Arg463=) c.970C= (p.Arg324=) c.1345C= (p.Arg449=) c.1252C= (p.Arg418=) c.745C= (p.Arg249=) | |
| 19 | g.4816991G>T | CA403489835 | TICAM1 | c.1387C>A (p.Arg463Ser) c.970C>A (p.Arg324Ser) c.1345C>A (p.Arg449Ser) c.1252C>A (p.Arg418Ser) c.745C>A (p.Arg249Ser) | |
| 19 | g.4816992A>C | CA403489837 | TICAM1 | c.1386T>G (p.Cys462Trp) c.969T>G (p.Cys323Trp) c.1344T>G (p.Cys448Trp) c.1251T>G (p.Cys417Trp) c.744T>G (p.Cys248Trp) | |
| 19 | g.4816992A>G | CA505174289 | TICAM1 | c.1386T>C (p.Cys462=) c.969T>C (p.Cys323=) c.1344T>C (p.Cys448=) c.1251T>C (p.Cys417=) c.744T>C (p.Cys248=) | |
| 19 | g.4816992A>T | CA403489839 | TICAM1 | c.1386T>A (p.Cys462Ter) c.969T>A (p.Cys323Ter) c.1344T>A (p.Cys448Ter) c.1251T>A (p.Cys417Ter) c.744T>A (p.Cys248Ter) | |
| 19 | g.4816993C>A | CA403489845 | TICAM1 | c.1385G>T (p.Cys462Phe) c.968G>T (p.Cys323Phe) c.1343G>T (p.Cys448Phe) c.1250G>T (p.Cys417Phe) c.743G>T (p.Cys248Phe) | |
| 19 | g.4816993C>G | CA403489843 | TICAM1 | c.1385G>C (p.Cys462Ser) c.968G>C (p.Cys323Ser) c.1343G>C (p.Cys448Ser) c.1250G>C (p.Cys417Ser) c.743G>C (p.Cys248Ser) | |
| 19 | g.4816993C>T | CA403489842 | TICAM1 | c.1385G>A (p.Cys462Tyr) c.968G>A (p.Cys323Tyr) c.1343G>A (p.Cys448Tyr) c.1250G>A (p.Cys417Tyr) c.743G>A (p.Cys248Tyr) | |
| 19 | g.4816994A= | CA2319605105 | TICAM1 | c.1384T= (p.Cys462=) c.967T= (p.Cys323=) c.1342T= (p.Cys448=) c.1249T= (p.Cys417=) c.742T= (p.Cys248=) | |
| 19 | g.4816994A>C | CA403489848 | TICAM1 | c.1384T>G (p.Cys462Gly) c.967T>G (p.Cys323Gly) c.1342T>G (p.Cys448Gly) c.1249T>G (p.Cys417Gly) c.742T>G (p.Cys248Gly) | |
| 19 | g.4816994A>G | CA403489850 | TICAM1 | c.1384T>C (p.Cys462Arg) c.967T>C (p.Cys323Arg) c.1342T>C (p.Cys448Arg) c.1249T>C (p.Cys417Arg) c.742T>C (p.Cys248Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816994A>T | CA403489852 | TICAM1 | c.1384T>A (p.Cys462Ser) c.967T>A (p.Cys323Ser) c.1342T>A (p.Cys448Ser) c.1249T>A (p.Cys417Ser) c.742T>A (p.Cys248Ser) | |
| 19 | g.4816994_4817001delinsAGTCGAAG | CA2319605106 | TICAM1 | c.1377_1384delinsCTTCGACT (p.Asn459=) c.960_967delinsCTTCGACT (p.Asn320=) c.1335_1342delinsCTTCGACT (p.Asn445=) c.1242_1249delinsCTTCGACT (p.Asn414=) c.735_742delinsCTTCGACT (p.Asn245=) | |
| 19 | g.4816995G>A | CA505174293 | TICAM1 | c.1383C>T (p.Asp461=) c.966C>T (p.Asp322=) c.1341C>T (p.Asp447=) c.1248C>T (p.Asp416=) c.741C>T (p.Asp247=) | |
| 19 | g.4816995G>C | CA403489855 | TICAM1 | c.1383C>G (p.Asp461Glu) c.966C>G (p.Asp322Glu) c.1341C>G (p.Asp447Glu) c.1248C>G (p.Asp416Glu) c.741C>G (p.Asp247Glu) | |
| 19 | g.4816995G>T | CA403489856 | TICAM1 | c.1383C>A (p.Asp461Glu) c.966C>A (p.Asp322Glu) c.1341C>A (p.Asp447Glu) c.1248C>A (p.Asp416Glu) c.741C>A (p.Asp247Glu) | |
| 19 | g.4816995_4817001del | CA9105147 | TICAM1 | c.1377_1383del (p.Phe460ValfsTer3) c.960_966del (p.Phe321ValfsTer3) c.1335_1341del (p.Phe446ValfsTer3) c.1242_1248del (p.Phe415ValfsTer3) c.735_741del (p.Phe246ValfsTer3) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.4816996T>A | CA403489859 | TICAM1 | c.1382A>T (p.Asp461Val) c.965A>T (p.Asp322Val) c.1340A>T (p.Asp447Val) c.1247A>T (p.Asp416Val) c.740A>T (p.Asp247Val) | |
| 19 | g.4816996T>C | CA403489865 | TICAM1 | c.1382A>G (p.Asp461Gly) c.965A>G (p.Asp322Gly) c.1340A>G (p.Asp447Gly) c.1247A>G (p.Asp416Gly) c.740A>G (p.Asp247Gly) | |
| 19 | g.4816996T>G | CA403489861 | TICAM1 | c.1382A>C (p.Asp461Ala) c.965A>C (p.Asp322Ala) c.1340A>C (p.Asp447Ala) c.1247A>C (p.Asp416Ala) c.740A>C (p.Asp247Ala) | gnomAD v4 |
| 19 | g.4816997C>A | CA403489868 | TICAM1 | c.1381G>T (p.Asp461Tyr) c.964G>T (p.Asp322Tyr) c.1339G>T (p.Asp447Tyr) c.1246G>T (p.Asp416Tyr) c.739G>T (p.Asp247Tyr) | |
| 19 | g.4816997C= | CA2319605107 | TICAM1 | c.1381G= (p.Asp461=) c.964G= (p.Asp322=) c.1339G= (p.Asp447=) c.1246G= (p.Asp416=) c.739G= (p.Asp247=) | |
| 19 | g.4816997C>G | CA403489869 | TICAM1 | c.1381G>C (p.Asp461His) c.964G>C (p.Asp322His) c.1339G>C (p.Asp447His) c.1246G>C (p.Asp416His) c.739G>C (p.Asp247His) | COSMIC |
| 19 | g.4816997C>T | CA403489871 | TICAM1 | c.1381G>A (p.Asp461Asn) c.964G>A (p.Asp322Asn) c.1339G>A (p.Asp447Asn) c.1246G>A (p.Asp416Asn) c.739G>A (p.Asp247Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816998G>A | CA505174301 | TICAM1 | c.1380C>T (p.Phe460=) c.963C>T (p.Phe321=) c.1338C>T (p.Phe446=) c.1245C>T (p.Phe415=) c.738C>T (p.Phe246=) | dbSNP COSMIC |
| 19 | g.4816998G>C | CA403489873 | TICAM1 | c.1380C>G (p.Phe460Leu) c.963C>G (p.Phe321Leu) c.1338C>G (p.Phe446Leu) c.1245C>G (p.Phe415Leu) c.738C>G (p.Phe246Leu) | |
| 19 | g.4816998G= | CA2319605108 | TICAM1 | c.1380C= (p.Phe460=) c.963C= (p.Phe321=) c.1338C= (p.Phe446=) c.1245C= (p.Phe415=) c.738C= (p.Phe246=) | |
| 19 | g.4816998G>T | CA304547500 | TICAM1 | c.1380C>A (p.Phe460Leu) c.963C>A (p.Phe321Leu) c.1338C>A (p.Phe446Leu) c.1245C>A (p.Phe415Leu) c.738C>A (p.Phe246Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816999A>C | CA403489877 | TICAM1 | c.1379T>G (p.Phe460Cys) c.962T>G (p.Phe321Cys) c.1337T>G (p.Phe446Cys) c.1244T>G (p.Phe415Cys) c.737T>G (p.Phe246Cys) | gnomAD v4 |
| 19 | g.4816999A>G | CA403489879 | TICAM1 | c.1379T>C (p.Phe460Ser) c.962T>C (p.Phe321Ser) c.1337T>C (p.Phe446Ser) c.1244T>C (p.Phe415Ser) c.737T>C (p.Phe246Ser) | |
| 19 | g.4816999A>T | CA403489880 | TICAM1 | c.1379T>A (p.Phe460Tyr) c.962T>A (p.Phe321Tyr) c.1337T>A (p.Phe446Tyr) c.1244T>A (p.Phe415Tyr) c.737T>A (p.Phe246Tyr) | |
| 19 | g.4817000dup | CA2586031839 | TICAM1 | c.1379dup (p.Asp461ArgfsTer?) c.962dup (p.Asp322ArgfsTer?) c.1337dup (p.Asp447ArgfsTer?) c.1244dup (p.Asp416ArgfsTer?) c.737dup (p.Asp247ArgfsTer?) | gnomAD v4 |
| 19 | g.4817000A>C | CA403489883 | TICAM1 | c.1378T>G (p.Phe460Val) c.961T>G (p.Phe321Val) c.1336T>G (p.Phe446Val) c.1243T>G (p.Phe415Val) c.736T>G (p.Phe246Val) | |
| 19 | g.4817000A>G | CA403489885 | TICAM1 | c.1378T>C (p.Phe460Leu) c.961T>C (p.Phe321Leu) c.1336T>C (p.Phe446Leu) c.1243T>C (p.Phe415Leu) c.736T>C (p.Phe246Leu) | |
| 19 | g.4817000A>T | CA403489886 | TICAM1 | c.1378T>A (p.Phe460Ile) c.961T>A (p.Phe321Ile) c.1336T>A (p.Phe446Ile) c.1243T>A (p.Phe415Ile) c.736T>A (p.Phe246Ile) | |
| 19 | g.4817001G>A | CA505174304 | TICAM1 | c.1377C>T (p.Asn459=) c.960C>T (p.Asn320=) c.1335C>T (p.Asn445=) c.1242C>T (p.Asn414=) c.735C>T (p.Asn245=) | |
| 19 | g.4817001G>C | CA403489888 | TICAM1 | c.1377C>G (p.Asn459Lys) c.960C>G (p.Asn320Lys) c.1335C>G (p.Asn445Lys) c.1242C>G (p.Asn414Lys) c.735C>G (p.Asn245Lys) | |
| 19 | g.4817001G>T | CA403489889 | TICAM1 | c.1377C>A (p.Asn459Lys) c.960C>A (p.Asn320Lys) c.1335C>A (p.Asn445Lys) c.1242C>A (p.Asn414Lys) c.735C>A (p.Asn245Lys) | |
| 19 | g.4817002T>A | CA403489891 | TICAM1 | c.1376A>T (p.Asn459Ile) c.959A>T (p.Asn320Ile) c.1334A>T (p.Asn445Ile) c.1241A>T (p.Asn414Ile) c.734A>T (p.Asn245Ile) | |
| 19 | g.4817002T>C | CA9105148 | TICAM1 | c.1376A>G (p.Asn459Ser) c.959A>G (p.Asn320Ser) c.1334A>G (p.Asn445Ser) c.1241A>G (p.Asn414Ser) c.734A>G (p.Asn245Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4817002T>G | CA403489893 | TICAM1 | c.1376A>C (p.Asn459Thr) c.959A>C (p.Asn320Thr) c.1334A>C (p.Asn445Thr) c.1241A>C (p.Asn414Thr) c.734A>C (p.Asn245Thr) | gnomAD v4 |
| 19 | g.4817002T= | CA2319605109 | TICAM1 | c.1376A= (p.Asn459=) c.959A= (p.Asn320=) c.1334A= (p.Asn445=) c.1241A= (p.Asn414=) c.734A= (p.Asn245=) | |
| 19 | g.4817003T>A | CA403489897 | TICAM1 | c.1375A>T (p.Asn459Tyr) c.958A>T (p.Asn320Tyr) c.1333A>T (p.Asn445Tyr) c.1240A>T (p.Asn414Tyr) c.733A>T (p.Asn245Tyr) | |
| 19 | g.4817003T>C | CA403489900 | TICAM1 | c.1375A>G (p.Asn459Asp) c.958A>G (p.Asn320Asp) c.1333A>G (p.Asn445Asp) c.1240A>G (p.Asn414Asp) c.733A>G (p.Asn245Asp) | |
| 19 | g.4817003T>G | CA403489899 | TICAM1 | c.1375A>C (p.Asn459His) c.958A>C (p.Asn320His) c.1333A>C (p.Asn445His) c.1240A>C (p.Asn414His) c.733A>C (p.Asn245His) | |
| 19 | g.4817004G>A | CA505174310 | TICAM1 | c.1374C>T (p.Ser458=) c.957C>T (p.Ser319=) c.1332C>T (p.Ser444=) c.1239C>T (p.Ser413=) c.732C>T (p.Ser244=) | |
| 19 | g.4817004G>C | CA505174311 | TICAM1 | c.1374C>G (p.Ser458=) c.957C>G (p.Ser319=) c.1332C>G (p.Ser444=) c.1239C>G (p.Ser413=) c.732C>G (p.Ser244=) | |
| 19 | g.4817004G>T | CA505174312 | TICAM1 | c.1374C>A (p.Ser458=) c.957C>A (p.Ser319=) c.1332C>A (p.Ser444=) c.1239C>A (p.Ser413=) c.732C>A (p.Ser244=) | |
| 19 | g.4817005G>A | CA403489903 | TICAM1 | c.1373C>T (p.Ser458Phe) c.956C>T (p.Ser319Phe) c.1331C>T (p.Ser444Phe) c.1238C>T (p.Ser413Phe) c.731C>T (p.Ser244Phe) | |
| 19 | g.4817005G>C | CA403489904 | TICAM1 | c.1373C>G (p.Ser458Cys) c.956C>G (p.Ser319Cys) c.1331C>G (p.Ser444Cys) c.1238C>G (p.Ser413Cys) c.731C>G (p.Ser244Cys) | |
| 19 | g.4817005G>T | CA403489906 | TICAM1 | c.1373C>A (p.Ser458Tyr) c.956C>A (p.Ser319Tyr) c.1331C>A (p.Ser444Tyr) c.1238C>A (p.Ser413Tyr) c.731C>A (p.Ser244Tyr) | |
| 19 | g.4817006A>C | CA403489909 | TICAM1 | c.1372T>G (p.Ser458Ala) c.955T>G (p.Ser319Ala) c.1330T>G (p.Ser444Ala) c.1237T>G (p.Ser413Ala) c.730T>G (p.Ser244Ala) | |
| 19 | g.4817006A>G | CA403489910 | TICAM1 | c.1372T>C (p.Ser458Pro) c.955T>C (p.Ser319Pro) c.1330T>C (p.Ser444Pro) c.1237T>C (p.Ser413Pro) c.730T>C (p.Ser244Pro) | |
| 19 | g.4817006A>T | CA403489912 | TICAM1 | c.1372T>A (p.Ser458Thr) c.955T>A (p.Ser319Thr) c.1330T>A (p.Ser444Thr) c.1237T>A (p.Ser413Thr) c.730T>A (p.Ser244Thr) | |
| 19 | g.4817007G>A | CA505174316 | TICAM1 | c.1371C>T (p.Thr457=) c.954C>T (p.Thr318=) c.1329C>T (p.Thr443=) c.1236C>T (p.Thr412=) c.729C>T (p.Thr243=) | |
| 19 | g.4817007G>C | CA505174317 | TICAM1 | c.1371C>G (p.Thr457=) c.954C>G (p.Thr318=) c.1329C>G (p.Thr443=) c.1236C>G (p.Thr412=) c.729C>G (p.Thr243=) | |
| 19 | g.4817007G>T | CA505174318 | TICAM1 | c.1371C>A (p.Thr457=) c.954C>A (p.Thr318=) c.1329C>A (p.Thr443=) c.1236C>A (p.Thr412=) c.729C>A (p.Thr243=) | |
| 19 | g.4817008G>A | CA403489915 | TICAM1 | c.1370C>T (p.Thr457Ile) c.953C>T (p.Thr318Ile) c.1328C>T (p.Thr443Ile) c.1235C>T (p.Thr412Ile) c.728C>T (p.Thr243Ile) | |
| 19 | g.4817008G>C | CA403489916 | TICAM1 | c.1370C>G (p.Thr457Ser) c.953C>G (p.Thr318Ser) c.1328C>G (p.Thr443Ser) c.1235C>G (p.Thr412Ser) c.728C>G (p.Thr243Ser) | |
| 19 | g.4817008G>T | CA403489918 | TICAM1 | c.1370C>A (p.Thr457Asn) c.953C>A (p.Thr318Asn) c.1328C>A (p.Thr443Asn) c.1235C>A (p.Thr412Asn) c.728C>A (p.Thr243Asn) | |
| 19 | g.4817009T>A | CA403489920 | TICAM1 | c.1369A>T (p.Thr457Ser) c.952A>T (p.Thr318Ser) c.1327A>T (p.Thr443Ser) c.1234A>T (p.Thr412Ser) c.727A>T (p.Thr243Ser) | |
| 19 | g.4817009T>C | CA403489923 | TICAM1 | c.1369A>G (p.Thr457Ala) c.952A>G (p.Thr318Ala) c.1327A>G (p.Thr443Ala) c.1234A>G (p.Thr412Ala) c.727A>G (p.Thr243Ala) | |
| 19 | g.4817009T>G | CA403489924 | TICAM1 | c.1369A>C (p.Thr457Pro) c.952A>C (p.Thr318Pro) c.1327A>C (p.Thr443Pro) c.1234A>C (p.Thr412Pro) c.727A>C (p.Thr243Pro) | dbSNP |
| 19 | g.4817009T= | CA2319605110 | TICAM1 | c.1369A= (p.Thr457=) c.952A= (p.Thr318=) c.1327A= (p.Thr443=) c.1234A= (p.Thr412=) c.727A= (p.Thr243=) | |
| 19 | g.4817010G>A | CA9105149 | TICAM1 | c.1368C>T (p.Leu456=) c.951C>T (p.Leu317=) c.1326C>T (p.Leu442=) c.1233C>T (p.Leu411=) c.726C>T (p.Leu242=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4817010G>C | CA505174323 | TICAM1 | c.1368C>G (p.Leu456=) c.951C>G (p.Leu317=) c.1326C>G (p.Leu442=) c.1233C>G (p.Leu411=) c.726C>G (p.Leu242=) | |
| 19 | g.4817010G= | CA2319605111 | TICAM1 | c.1368C= (p.Leu456=) c.951C= (p.Leu317=) c.1326C= (p.Leu442=) c.1233C= (p.Leu411=) c.726C= (p.Leu242=) | |
| 19 | g.4817010G>T | CA505174325 | TICAM1 | c.1368C>A (p.Leu456=) c.951C>A (p.Leu317=) c.1326C>A (p.Leu442=) c.1233C>A (p.Leu411=) c.726C>A (p.Leu242=) | |
| 19 | g.4817011A>C | CA403489928 | TICAM1 | c.1367T>G (p.Leu456Arg) c.950T>G (p.Leu317Arg) c.1325T>G (p.Leu442Arg) c.1232T>G (p.Leu411Arg) c.725T>G (p.Leu242Arg) | |
| 19 | g.4817011A>G | CA403489931 | TICAM1 | c.1367T>C (p.Leu456Pro) c.950T>C (p.Leu317Pro) c.1325T>C (p.Leu442Pro) c.1232T>C (p.Leu411Pro) c.725T>C (p.Leu242Pro) | |
| 19 | g.4817011A>T | CA403489930 | TICAM1 | c.1367T>A (p.Leu456His) c.950T>A (p.Leu317His) c.1325T>A (p.Leu442His) c.1232T>A (p.Leu411His) c.725T>A (p.Leu242His) | |
| 19 | g.4817012G>A | CA403489934 | TICAM1 | c.1366C>T (p.Leu456Phe) c.949C>T (p.Leu317Phe) c.1324C>T (p.Leu442Phe) c.1231C>T (p.Leu411Phe) c.724C>T (p.Leu242Phe) | gnomAD v4 |
| 19 | g.4817012G>C | CA403489936 | TICAM1 | c.1366C>G (p.Leu456Val) c.949C>G (p.Leu317Val) c.1324C>G (p.Leu442Val) c.1231C>G (p.Leu411Val) c.724C>G (p.Leu242Val) | gnomAD v4 |
| 19 | g.4817012G>T | CA403489937 | TICAM1 | c.1366C>A (p.Leu456Ile) c.949C>A (p.Leu317Ile) c.1324C>A (p.Leu442Ile) c.1231C>A (p.Leu411Ile) c.724C>A (p.Leu242Ile) | |
| 19 | g.4817013A>C | CA505174327 | TICAM1 | c.1365T>G (p.Leu455=) c.948T>G (p.Leu316=) c.1323T>G (p.Leu441=) c.1230T>G (p.Leu410=) c.723T>G (p.Leu241=) | |
| 19 | g.4817013A>G | CA505174328 | TICAM1 | c.1365T>C (p.Leu455=) c.948T>C (p.Leu316=) c.1323T>C (p.Leu441=) c.1230T>C (p.Leu410=) c.723T>C (p.Leu241=) | gnomAD v4 |
| 19 | g.4817013A>T | CA505174329 | TICAM1 | c.1365T>A (p.Leu455=) c.948T>A (p.Leu316=) c.1323T>A (p.Leu441=) c.1230T>A (p.Leu410=) c.723T>A (p.Leu241=) | |
| 19 | g.4817014A>C | CA403489940 | TICAM1 | c.1364T>G (p.Leu455Arg) c.947T>G (p.Leu316Arg) c.1322T>G (p.Leu441Arg) c.1229T>G (p.Leu410Arg) c.722T>G (p.Leu241Arg) | |
| 19 | g.4817014A>G | CA403489942 | TICAM1 | c.1364T>C (p.Leu455Pro) c.947T>C (p.Leu316Pro) c.1322T>C (p.Leu441Pro) c.1229T>C (p.Leu410Pro) c.722T>C (p.Leu241Pro) | |
| 19 | g.4817014A>T | CA403489943 | TICAM1 | c.1364T>A (p.Leu455His) c.947T>A (p.Leu316His) c.1322T>A (p.Leu441His) c.1229T>A (p.Leu410His) c.722T>A (p.Leu241His) | |
| 19 | g.4817015G>A | CA403489946 | TICAM1 | c.1363C>T (p.Leu455Phe) c.946C>T (p.Leu316Phe) c.1321C>T (p.Leu441Phe) c.1228C>T (p.Leu410Phe) c.721C>T (p.Leu241Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.4817015G>C | CA403489948 | TICAM1 | c.1363C>G (p.Leu455Val) c.946C>G (p.Leu316Val) c.1321C>G (p.Leu441Val) c.1228C>G (p.Leu410Val) c.721C>G (p.Leu241Val) | |
| 19 | g.4817015G= | CA2319605112 | TICAM1 | c.1363C= (p.Leu455=) c.946C= (p.Leu316=) c.1321C= (p.Leu441=) c.1228C= (p.Leu410=) c.721C= (p.Leu241=) | |
| 19 | g.4817015G>T | CA403489949 | TICAM1 | c.1363C>A (p.Leu455Ile) c.946C>A (p.Leu316Ile) c.1321C>A (p.Leu441Ile) c.1228C>A (p.Leu410Ile) c.721C>A (p.Leu241Ile) | |
| 19 | g.4817016T>A | CA505174331 | TICAM1 | c.1362A>T (p.Leu454=) c.945A>T (p.Leu315=) c.1320A>T (p.Leu440=) c.1227A>T (p.Leu409=) c.720A>T (p.Leu240=) | |
| 19 | g.4817016T>C | CA304547511 | TICAM1 | c.1362A>G (p.Leu454=) c.945A>G (p.Leu315=) c.1320A>G (p.Leu440=) c.1227A>G (p.Leu409=) c.720A>G (p.Leu240=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4817016T>G | CA505174332 | TICAM1 | c.1362A>C (p.Leu454=) c.945A>C (p.Leu315=) c.1320A>C (p.Leu440=) c.1227A>C (p.Leu409=) c.720A>C (p.Leu240=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.4817016T= | CA2319605113 | TICAM1 | c.1362A= (p.Leu454=) c.945A= (p.Leu315=) c.1320A= (p.Leu440=) c.1227A= (p.Leu409=) c.720A= (p.Leu240=) | |
| 19 | g.4817017A>C | CA403489954 | TICAM1 | c.1361T>G (p.Leu454Arg) c.944T>G (p.Leu315Arg) c.1319T>G (p.Leu440Arg) c.1226T>G (p.Leu409Arg) c.719T>G (p.Leu240Arg) | |
| 19 | g.4817017A>G | CA403489953 | TICAM1 | c.1361T>C (p.Leu454Pro) c.944T>C (p.Leu315Pro) c.1319T>C (p.Leu440Pro) c.1226T>C (p.Leu409Pro) c.719T>C (p.Leu240Pro) | |
| 19 | g.4817017A>T | CA403489952 | TICAM1 | c.1361T>A (p.Leu454Gln) c.944T>A (p.Leu315Gln) c.1319T>A (p.Leu440Gln) c.1226T>A (p.Leu409Gln) c.719T>A (p.Leu240Gln) | |
| 19 | g.4817018G>A | CA505174334 | TICAM1 | c.1360C>T (p.Leu454=) c.943C>T (p.Leu315=) c.1318C>T (p.Leu440=) c.1225C>T (p.Leu409=) c.718C>T (p.Leu240=) | |
| 19 | g.4817018G>C | CA403489955 | TICAM1 | c.1360C>G (p.Leu454Val) c.943C>G (p.Leu315Val) c.1318C>G (p.Leu440Val) c.1225C>G (p.Leu409Val) c.718C>G (p.Leu240Val) | |
| 19 | g.4817018G>T | CA403489957 | TICAM1 | c.1360C>A (p.Leu454Ile) c.943C>A (p.Leu315Ile) c.1318C>A (p.Leu440Ile) c.1225C>A (p.Leu409Ile) c.718C>A (p.Leu240Ile) | |
| 19 | g.4817019G>A | CA505174335 | TICAM1 | c.1359C>T (p.Ile453=) c.942C>T (p.Ile314=) c.1317C>T (p.Ile439=) c.1224C>T (p.Ile408=) c.717C>T (p.Ile239=) | gnomAD v4 |
| 19 | g.4817019G>C | CA403489960 | TICAM1 | c.1359C>G (p.Ile453Met) c.942C>G (p.Ile314Met) c.1317C>G (p.Ile439Met) c.1224C>G (p.Ile408Met) c.717C>G (p.Ile239Met) | |
| 19 | g.4817019G>T | CA505174336 | TICAM1 | c.1359C>A (p.Ile453=) c.942C>A (p.Ile314=) c.1317C>A (p.Ile439=) c.1224C>A (p.Ile408=) c.717C>A (p.Ile239=) | |
| 19 | g.4817020A>C | CA403489962 | TICAM1 | c.1358T>G (p.Ile453Ser) c.941T>G (p.Ile314Ser) c.1316T>G (p.Ile439Ser) c.1223T>G (p.Ile408Ser) c.716T>G (p.Ile239Ser) | |
| 19 | g.4817020A>G | CA403489964 | TICAM1 | c.1358T>C (p.Ile453Thr) c.941T>C (p.Ile314Thr) c.1316T>C (p.Ile439Thr) c.1223T>C (p.Ile408Thr) c.716T>C (p.Ile239Thr) | |
| 19 | g.4817020A>T | CA403489966 | TICAM1 | c.1358T>A (p.Ile453Asn) c.941T>A (p.Ile314Asn) c.1316T>A (p.Ile439Asn) c.1223T>A (p.Ile408Asn) c.716T>A (p.Ile239Asn) | |
| 19 | g.4817021T>A | CA403489968 | TICAM1 | c.1357A>T (p.Ile453Phe) c.940A>T (p.Ile314Phe) c.1315A>T (p.Ile439Phe) c.1222A>T (p.Ile408Phe) c.715A>T (p.Ile239Phe) | |
| 19 | g.4817021T>C | CA9105150 | TICAM1 | c.1357A>G (p.Ile453Val) c.940A>G (p.Ile314Val) c.1315A>G (p.Ile439Val) c.1222A>G (p.Ile408Val) c.715A>G (p.Ile239Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.4817021T>G | CA403489971 | TICAM1 | c.1357A>C (p.Ile453Leu) c.940A>C (p.Ile314Leu) c.1315A>C (p.Ile439Leu) c.1222A>C (p.Ile408Leu) c.715A>C (p.Ile239Leu) | |
| 19 | g.4817021T= | CA2319605114 | TICAM1 | c.1357A= (p.Ile453=) c.940A= (p.Ile314=) c.1315A= (p.Ile439=) c.1222A= (p.Ile408=) c.715A= (p.Ile239=) | |
| 19 | g.4817022G>A | CA505174341 | TICAM1 | c.1356C>T (p.Ile452=) c.939C>T (p.Ile313=) c.1314C>T (p.Ile438=) c.1221C>T (p.Ile407=) c.714C>T (p.Ile238=) | COSMIC |
| 19 | g.4817022G>C | CA403489973 | TICAM1 | c.1356C>G (p.Ile452Met) c.939C>G (p.Ile313Met) c.1314C>G (p.Ile438Met) c.1221C>G (p.Ile407Met) c.714C>G (p.Ile238Met) | |
| 19 | g.4817022G>T | CA505174343 | TICAM1 | c.1356C>A (p.Ile452=) c.939C>A (p.Ile313=) c.1314C>A (p.Ile438=) c.1221C>A (p.Ile407=) c.714C>A (p.Ile238=) | |
| 19 | g.4817023A= | CA2319605115 | TICAM1 | c.1355T= (p.Ile452=) c.938T= (p.Ile313=) c.1313T= (p.Ile438=) c.1220T= (p.Ile407=) c.713T= (p.Ile238=) | |
| 19 | g.4817023A>C | CA403489976 | TICAM1 | c.1355T>G (p.Ile452Ser) c.938T>G (p.Ile313Ser) c.1313T>G (p.Ile438Ser) c.1220T>G (p.Ile407Ser) c.713T>G (p.Ile238Ser) | |
| 19 | g.4817023A>G | CA304547528 | TICAM1 | c.1355T>C (p.Ile452Thr) c.938T>C (p.Ile313Thr) c.1313T>C (p.Ile438Thr) c.1220T>C (p.Ile407Thr) c.713T>C (p.Ile238Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4817023A>T | CA9105151 | TICAM1 | c.1355T>A (p.Ile452Asn) c.938T>A (p.Ile313Asn) c.1313T>A (p.Ile438Asn) c.1220T>A (p.Ile407Asn) c.713T>A (p.Ile238Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4817024T>A | CA403489984 | TICAM1 | c.1354A>T (p.Ile452Phe) c.937A>T (p.Ile313Phe) c.1312A>T (p.Ile438Phe) c.1219A>T (p.Ile407Phe) c.712A>T (p.Ile238Phe) | |
| 19 | g.4817024T>C | CA403489980 | TICAM1 | c.1354A>G (p.Ile452Val) c.937A>G (p.Ile313Val) c.1312A>G (p.Ile438Val) c.1219A>G (p.Ile407Val) c.712A>G (p.Ile238Val) | ClinVar |
| 19 | g.4817024T>G | CA403489982 | TICAM1 | c.1354A>C (p.Ile452Leu) c.937A>C (p.Ile313Leu) c.1312A>C (p.Ile438Leu) c.1219A>C (p.Ile407Leu) c.712A>C (p.Ile238Leu) | |
| 19 | g.4817025G>A | CA505174350 | TICAM1 | c.1353C>T (p.Phe451=) c.936C>T (p.Phe312=) c.1311C>T (p.Phe437=) c.1218C>T (p.Phe406=) c.711C>T (p.Phe237=) | |
| 19 | g.4817025G>C | CA403489986 | TICAM1 | c.1353C>G (p.Phe451Leu) c.936C>G (p.Phe312Leu) c.1311C>G (p.Phe437Leu) c.1218C>G (p.Phe406Leu) c.711C>G (p.Phe237Leu) | |
| 19 | g.4817025G>T | CA403489988 | TICAM1 | c.1353C>A (p.Phe451Leu) c.936C>A (p.Phe312Leu) c.1311C>A (p.Phe437Leu) c.1218C>A (p.Phe406Leu) c.711C>A (p.Phe237Leu) | |
| 19 | g.4817026A>C | CA403489990 | TICAM1 | c.1352T>G (p.Phe451Cys) c.935T>G (p.Phe312Cys) c.1310T>G (p.Phe437Cys) c.1217T>G (p.Phe406Cys) c.710T>G (p.Phe237Cys) | |
| 19 | g.4817026A>G | CA403489992 | TICAM1 | c.1352T>C (p.Phe451Ser) c.935T>C (p.Phe312Ser) c.1310T>C (p.Phe437Ser) c.1217T>C (p.Phe406Ser) c.710T>C (p.Phe237Ser) | |
| 19 | g.4817026A>T | CA403489994 | TICAM1 | c.1352T>A (p.Phe451Tyr) c.935T>A (p.Phe312Tyr) c.1310T>A (p.Phe437Tyr) c.1217T>A (p.Phe406Tyr) c.710T>A (p.Phe237Tyr) | |
| 19 | g.4817027A>C | CA403489996 | TICAM1 | c.1351T>G (p.Phe451Val) c.934T>G (p.Phe312Val) c.1309T>G (p.Phe437Val) c.1216T>G (p.Phe406Val) c.709T>G (p.Phe237Val) | |
| 19 | g.4817027A>G | CA403489998 | TICAM1 | c.1351T>C (p.Phe451Leu) c.934T>C (p.Phe312Leu) c.1309T>C (p.Phe437Leu) c.1216T>C (p.Phe406Leu) c.709T>C (p.Phe237Leu) | |
| 19 | g.4817027A>T | CA403490000 | TICAM1 | c.1351T>A (p.Phe451Ile) c.934T>A (p.Phe312Ile) c.1309T>A (p.Phe437Ile) c.1216T>A (p.Phe406Ile) c.709T>A (p.Phe237Ile) | |
| 19 | g.4817028A>C | CA505174356 | TICAM1 | c.1350T>G (p.Ala450=) c.933T>G (p.Ala311=) c.1308T>G (p.Ala436=) c.1215T>G (p.Ala405=) c.708T>G (p.Ala236=) | |
| 19 | g.4817028A>G | CA505174357 | TICAM1 | c.1350T>C (p.Ala450=) c.933T>C (p.Ala311=) c.1308T>C (p.Ala436=) c.1215T>C (p.Ala405=) c.708T>C (p.Ala236=) | COSMIC |
| 19 | g.4817028A>T | CA505174359 | TICAM1 | c.1350T>A (p.Ala450=) c.933T>A (p.Ala311=) c.1308T>A (p.Ala436=) c.1215T>A (p.Ala405=) c.708T>A (p.Ala236=) | |
| 19 | g.4817029G>A | CA403490003 | TICAM1 | c.1349C>T (p.Ala450Val) c.932C>T (p.Ala311Val) c.1307C>T (p.Ala436Val) c.1214C>T (p.Ala405Val) c.707C>T (p.Ala236Val) | |
| 19 | g.4817029G>C | CA403490005 | TICAM1 | c.1349C>G (p.Ala450Gly) c.932C>G (p.Ala311Gly) c.1307C>G (p.Ala436Gly) c.1214C>G (p.Ala405Gly) c.707C>G (p.Ala236Gly) | gnomAD v4 |
| 19 | g.4817029G>T | CA403490007 | TICAM1 | c.1349C>A (p.Ala450Asp) c.932C>A (p.Ala311Asp) c.1307C>A (p.Ala436Asp) c.1214C>A (p.Ala405Asp) c.707C>A (p.Ala236Asp) | |
| 19 | g.4817030C>A | CA403490013 | TICAM1 | c.1348G>T (p.Ala450Ser) c.931G>T (p.Ala311Ser) c.1306G>T (p.Ala436Ser) c.1213G>T (p.Ala405Ser) c.706G>T (p.Ala236Ser) | |
| 19 | g.4817030C>G | CA403490011 | TICAM1 | c.1348G>C (p.Ala450Pro) c.931G>C (p.Ala311Pro) c.1306G>C (p.Ala436Pro) c.1213G>C (p.Ala405Pro) c.706G>C (p.Ala236Pro) | |
| 19 | g.4817030C>T | CA403490009 | TICAM1 | c.1348G>A (p.Ala450Thr) c.931G>A (p.Ala311Thr) c.1306G>A (p.Ala436Thr) c.1213G>A (p.Ala405Thr) c.706G>A (p.Ala236Thr) | |
| 19 | g.4817031T>A | CA505174361 | TICAM1 | c.1347A>T (p.Ser449=) c.930A>T (p.Ser310=) c.1305A>T (p.Ser435=) c.1212A>T (p.Ser404=) c.705A>T (p.Ser235=) | |
| 19 | g.4817031T>C | CA505174365 | TICAM1 | c.1347A>G (p.Ser449=) c.930A>G (p.Ser310=) c.1305A>G (p.Ser435=) c.1212A>G (p.Ser404=) c.705A>G (p.Ser235=) | |
| 19 | g.4817031T>G | CA505174363 | TICAM1 | c.1347A>C (p.Ser449=) c.930A>C (p.Ser310=) c.1305A>C (p.Ser435=) c.1212A>C (p.Ser404=) c.705A>C (p.Ser235=) | |
| 19 | g.4817032G>A | CA403490014 | TICAM1 | c.1346C>T (p.Ser449Leu) c.929C>T (p.Ser310Leu) c.1304C>T (p.Ser435Leu) c.1211C>T (p.Ser404Leu) c.704C>T (p.Ser235Leu) | |
| 19 | g.4817032G>C | CA403490017 | TICAM1 | c.1346C>G (p.Ser449Ter) c.929C>G (p.Ser310Ter) c.1304C>G (p.Ser435Ter) c.1211C>G (p.Ser404Ter) c.704C>G (p.Ser235Ter) | |
| 19 | g.4817032G>T | CA403490016 | TICAM1 | c.1346C>A (p.Ser449Ter) c.929C>A (p.Ser310Ter) c.1304C>A (p.Ser435Ter) c.1211C>A (p.Ser404Ter) c.704C>A (p.Ser235Ter) | |
| 19 | g.4817033A>C | CA403490019 | TICAM1 | c.1345T>G (p.Ser449Ala) c.928T>G (p.Ser310Ala) c.1303T>G (p.Ser435Ala) c.1210T>G (p.Ser404Ala) c.703T>G (p.Ser235Ala) | |
| 19 | g.4817033A>G | CA403490021 | TICAM1 | c.1345T>C (p.Ser449Pro) c.928T>C (p.Ser310Pro) c.1303T>C (p.Ser435Pro) c.1210T>C (p.Ser404Pro) c.703T>C (p.Ser235Pro) | |
| 19 | g.4817033A>T | CA403490023 | TICAM1 | c.1345T>A (p.Ser449Thr) c.928T>A (p.Ser310Thr) c.1303T>A (p.Ser435Thr) c.1210T>A (p.Ser404Thr) c.703T>A (p.Ser235Thr) | |
| 19 | g.4817034G>A | CA505174368 | TICAM1 | c.1344C>T (p.His448=) c.927C>T (p.His309=) c.1302C>T (p.His434=) c.1209C>T (p.His403=) c.702C>T (p.His234=) | |
| 19 | g.4817034G>C | CA403490025 | TICAM1 | c.1344C>G (p.His448Gln) c.927C>G (p.His309Gln) c.1302C>G (p.His434Gln) c.1209C>G (p.His403Gln) c.702C>G (p.His234Gln) | |
| 19 | g.4817034G>T | CA403490027 | TICAM1 | c.1344C>A (p.His448Gln) c.927C>A (p.His309Gln) c.1302C>A (p.His434Gln) c.1209C>A (p.His403Gln) c.702C>A (p.His234Gln) | gnomAD v4 |
| 19 | g.4817035T>A | CA403490029 | TICAM1 | c.1343A>T (p.His448Leu) c.926A>T (p.His309Leu) c.1301A>T (p.His434Leu) c.1208A>T (p.His403Leu) c.701A>T (p.His234Leu) | |
| 19 | g.4817035T>C | CA403490030 | TICAM1 | c.1343A>G (p.His448Arg) c.926A>G (p.His309Arg) c.1301A>G (p.His434Arg) c.1208A>G (p.His403Arg) c.701A>G (p.His234Arg) | |
| 19 | g.4817035T>G | CA403490032 | TICAM1 | c.1343A>C (p.His448Pro) c.926A>C (p.His309Pro) c.1301A>C (p.His434Pro) c.1208A>C (p.His403Pro) c.701A>C (p.His234Pro) | |
| 19 | g.4817036G>A | CA403490037 | TICAM1 | c.1342C>T (p.His448Tyr) c.925C>T (p.His309Tyr) c.1300C>T (p.His434Tyr) c.1207C>T (p.His403Tyr) c.700C>T (p.His234Tyr) | dbSNP gnomAD v4 |
| 19 | g.4817036G>C | CA403490038 | TICAM1 | c.1342C>G (p.His448Asp) c.925C>G (p.His309Asp) c.1300C>G (p.His434Asp) c.1207C>G (p.His403Asp) c.700C>G (p.His234Asp) | |
| 19 | g.4817036G= | CA2319605116 | TICAM1 | c.1342C= (p.His448=) c.925C= (p.His309=) c.1300C= (p.His434=) c.1207C= (p.His403=) c.700C= (p.His234=) | |
| 19 | g.4817036G>T | CA403490039 | TICAM1 | c.1342C>A (p.His448Asn) c.925C>A (p.His309Asn) c.1300C>A (p.His434Asn) c.1207C>A (p.His403Asn) c.700C>A (p.His234Asn) | gnomAD v4 |
| 19 | g.4817037G>A | CA505174373 | TICAM1 | c.1341C>T (p.Asp447=) c.924C>T (p.Asp308=) c.1299C>T (p.Asp433=) c.1206C>T (p.Asp402=) c.699C>T (p.Asp233=) | |
| 19 | g.4817037G>C | CA403490041 | TICAM1 | c.1341C>G (p.Asp447Glu) c.924C>G (p.Asp308Glu) c.1299C>G (p.Asp433Glu) c.1206C>G (p.Asp402Glu) c.699C>G (p.Asp233Glu) | |
| 19 | g.4817037G>T | CA403490042 | TICAM1 | c.1341C>A (p.Asp447Glu) c.924C>A (p.Asp308Glu) c.1299C>A (p.Asp433Glu) c.1206C>A (p.Asp402Glu) c.699C>A (p.Asp233Glu) | |
| 19 | g.4817038T>A | CA403490045 | TICAM1 | c.1340A>T (p.Asp447Val) c.923A>T (p.Asp308Val) c.1298A>T (p.Asp433Val) c.1205A>T (p.Asp402Val) c.698A>T (p.Asp233Val) | |
| 19 | g.4817038T>C | CA403490048 | TICAM1 | c.1340A>G (p.Asp447Gly) c.923A>G (p.Asp308Gly) c.1298A>G (p.Asp433Gly) c.1205A>G (p.Asp402Gly) c.698A>G (p.Asp233Gly) | |
| 19 | g.4817038T>G | CA403490046 | TICAM1 | c.1340A>C (p.Asp447Ala) c.923A>C (p.Asp308Ala) c.1298A>C (p.Asp433Ala) c.1205A>C (p.Asp402Ala) c.698A>C (p.Asp233Ala) | |
| 19 | g.4817039C>A | CA403490051 | TICAM1 | c.1339G>T (p.Asp447Tyr) c.922G>T (p.Asp308Tyr) c.1297G>T (p.Asp433Tyr) c.1204G>T (p.Asp402Tyr) c.697G>T (p.Asp233Tyr) | |
| 19 | g.4817039C>G | CA403490052 | TICAM1 | c.1339G>C (p.Asp447His) c.922G>C (p.Asp308His) c.1297G>C (p.Asp433His) c.1204G>C (p.Asp402His) c.697G>C (p.Asp233His) | |
| 19 | g.4817039C>T | CA403490054 | TICAM1 | c.1339G>A (p.Asp447Asn) c.922G>A (p.Asp308Asn) c.1297G>A (p.Asp433Asn) c.1204G>A (p.Asp402Asn) c.697G>A (p.Asp233Asn) | |
| 19 | g.4817040T>A | CA505174382 | TICAM1 | c.1338A>T (p.Ile446=) c.921A>T (p.Ile307=) c.1296A>T (p.Ile432=) c.1203A>T (p.Ile401=) c.696A>T (p.Ile232=) | |
| 19 | g.4817040T>C | CA403490056 | TICAM1 | c.1338A>G (p.Ile446Met) c.921A>G (p.Ile307Met) c.1296A>G (p.Ile432Met) c.1203A>G (p.Ile401Met) c.696A>G (p.Ile232Met) | |
| 19 | g.4817040T>G | CA505174380 | TICAM1 | c.1338A>C (p.Ile446=) c.921A>C (p.Ile307=) c.1296A>C (p.Ile432=) c.1203A>C (p.Ile401=) c.696A>C (p.Ile232=) | |
| 19 | g.4817041A>C | CA403490059 | TICAM1 | c.1337T>G (p.Ile446Arg) c.920T>G (p.Ile307Arg) c.1295T>G (p.Ile432Arg) c.1202T>G (p.Ile401Arg) c.695T>G (p.Ile232Arg) | |
| 19 | g.4817041A>G | CA403490060 | TICAM1 | c.1337T>C (p.Ile446Thr) c.920T>C (p.Ile307Thr) c.1295T>C (p.Ile432Thr) c.1202T>C (p.Ile401Thr) c.695T>C (p.Ile232Thr) | |
| 19 | g.4817041A>T | CA403490062 | TICAM1 | c.1337T>A (p.Ile446Lys) c.920T>A (p.Ile307Lys) c.1295T>A (p.Ile432Lys) c.1202T>A (p.Ile401Lys) c.695T>A (p.Ile232Lys) | |
| 19 | g.4817042T>A | CA403490065 | TICAM1 | c.1336A>T (p.Ile446Leu) c.919A>T (p.Ile307Leu) c.1294A>T (p.Ile432Leu) c.1201A>T (p.Ile401Leu) c.694A>T (p.Ile232Leu) | |
| 19 | g.4817042T>C | CA403490067 | TICAM1 | c.1336A>G (p.Ile446Val) c.919A>G (p.Ile307Val) c.1294A>G (p.Ile432Val) c.1201A>G (p.Ile401Val) c.694A>G (p.Ile232Val) | dbSNP gnomAD v4 |
| 19 | g.4817042T>G | CA403490069 | TICAM1 | c.1336A>C (p.Ile446Leu) c.919A>C (p.Ile307Leu) c.1294A>C (p.Ile432Leu) c.1201A>C (p.Ile401Leu) c.694A>C (p.Ile232Leu) | |
| 19 | g.4817042T= | CA2319605117 | TICAM1 | c.1336A= (p.Ile446=) c.919A= (p.Ile307=) c.1294A= (p.Ile432=) c.1201A= (p.Ile401=) c.694A= (p.Ile232=) | |
| 19 | g.4817043G>A | CA505174384 | TICAM1 | c.1335C>T (p.Ala445=) c.918C>T (p.Ala306=) c.1293C>T (p.Ala431=) c.1200C>T (p.Ala400=) c.693C>T (p.Ala231=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4817043G>C | CA505174385 | TICAM1 | c.1335C>G (p.Ala445=) c.918C>G (p.Ala306=) c.1293C>G (p.Ala431=) c.1200C>G (p.Ala400=) c.693C>G (p.Ala231=) | |
| 19 | g.4817043G= | CA2319605118 | TICAM1 | c.1335C= (p.Ala445=) c.918C= (p.Ala306=) c.1293C= (p.Ala431=) c.1200C= (p.Ala400=) c.693C= (p.Ala231=) | |
| 19 | g.4817043G>T | CA505174387 | TICAM1 | c.1335C>A (p.Ala445=) c.918C>A (p.Ala306=) c.1293C>A (p.Ala431=) c.1200C>A (p.Ala400=) c.693C>A (p.Ala231=) | |
| 19 | g.4817044G>A | CA403490074 | TICAM1 | c.1334C>T (p.Ala445Val) c.917C>T (p.Ala306Val) c.1292C>T (p.Ala431Val) c.1199C>T (p.Ala400Val) c.692C>T (p.Ala231Val) | |
| 19 | g.4817044G>C | CA403490073 | TICAM1 | c.1334C>G (p.Ala445Gly) c.917C>G (p.Ala306Gly) c.1292C>G (p.Ala431Gly) c.1199C>G (p.Ala400Gly) c.692C>G (p.Ala231Gly) | |
| 19 | g.4817044G>T | CA403490071 | TICAM1 | c.1334C>A (p.Ala445Asp) c.917C>A (p.Ala306Asp) c.1292C>A (p.Ala431Asp) c.1199C>A (p.Ala400Asp) c.692C>A (p.Ala231Asp) | |
| 19 | g.4817045C>A | CA403490077 | TICAM1 | c.1333G>T (p.Ala445Ser) c.916G>T (p.Ala306Ser) c.1291G>T (p.Ala431Ser) c.1198G>T (p.Ala400Ser) c.691G>T (p.Ala231Ser) | |
| 19 | g.4817045C= | CA2319605119 | TICAM1 | c.1333G= (p.Ala445=) c.916G= (p.Ala306=) c.1291G= (p.Ala431=) c.1198G= (p.Ala400=) c.691G= (p.Ala231=) | |
| 19 | g.4817045C>G | CA403490078 | TICAM1 | c.1333G>C (p.Ala445Pro) c.916G>C (p.Ala306Pro) c.1291G>C (p.Ala431Pro) c.1198G>C (p.Ala400Pro) c.691G>C (p.Ala231Pro) | |
| 19 | g.4817045C>T | CA403490080 | TICAM1 | c.1333G>A (p.Ala445Thr) c.916G>A (p.Ala306Thr) c.1291G>A (p.Ala431Thr) c.1198G>A (p.Ala400Thr) c.691G>A (p.Ala231Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4817046G>A | CA9105152 | TICAM1 | c.1332C>T (p.Asp444=) c.915C>T (p.Asp305=) c.1290C>T (p.Asp430=) c.1197C>T (p.Asp399=) c.690C>T (p.Asp230=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.4817046G>C | CA403490084 | TICAM1 | c.1332C>G (p.Asp444Glu) c.915C>G (p.Asp305Glu) c.1290C>G (p.Asp430Glu) c.1197C>G (p.Asp399Glu) c.690C>G (p.Asp230Glu) | |
| 19 | g.4817046G= | CA2319605120 | TICAM1 | c.1332C= (p.Asp444=) c.915C= (p.Asp305=) c.1290C= (p.Asp430=) c.1197C= (p.Asp399=) c.690C= (p.Asp230=) | |
| 19 | g.4817046G>T | CA403490086 | TICAM1 | c.1332C>A (p.Asp444Glu) c.915C>A (p.Asp305Glu) c.1290C>A (p.Asp430Glu) c.1197C>A (p.Asp399Glu) c.690C>A (p.Asp230Glu) | |
| 19 | g.4817047T>A | CA403490092 | TICAM1 | c.1331A>T (p.Asp444Val) c.914A>T (p.Asp305Val) c.1289A>T (p.Asp430Val) c.1196A>T (p.Asp399Val) c.689A>T (p.Asp230Val) | |
| 19 | g.4817047T>C | CA403490089 | TICAM1 | c.1331A>G (p.Asp444Gly) c.914A>G (p.Asp305Gly) c.1289A>G (p.Asp430Gly) c.1196A>G (p.Asp399Gly) c.689A>G (p.Asp230Gly) | |
| 19 | g.4817047T>G | CA403490091 | TICAM1 | c.1331A>C (p.Asp444Ala) c.914A>C (p.Asp305Ala) c.1289A>C (p.Asp430Ala) c.1196A>C (p.Asp399Ala) c.689A>C (p.Asp230Ala) | |
| 19 | g.4817048C>A | CA403490094 | TICAM1 | c.1330G>T (p.Asp444Tyr) c.913G>T (p.Asp305Tyr) c.1288G>T (p.Asp430Tyr) c.1195G>T (p.Asp399Tyr) c.688G>T (p.Asp230Tyr) | |
| 19 | g.4817048C>G | CA403490096 | TICAM1 | c.1330G>C (p.Asp444His) c.913G>C (p.Asp305His) c.1288G>C (p.Asp430His) c.1195G>C (p.Asp399His) c.688G>C (p.Asp230His) | |
| 19 | g.4817048C>T | CA403490098 | TICAM1 | c.1330G>A (p.Asp444Asn) c.913G>A (p.Asp305Asn) c.1288G>A (p.Asp430Asn) c.1195G>A (p.Asp399Asn) c.688G>A (p.Asp230Asn) | gnomAD v4 |
| 19 | g.4817049C>A | CA403490100 | TICAM1 | c.1329G>T (p.Gln443His) c.912G>T (p.Gln304His) c.1287G>T (p.Gln429His) c.1194G>T (p.Gln398His) c.687G>T (p.Gln229His) | |
| 19 | g.4817049C>G | CA403490102 | TICAM1 | c.1329G>C (p.Gln443His) c.912G>C (p.Gln304His) c.1287G>C (p.Gln429His) c.1194G>C (p.Gln398His) c.687G>C (p.Gln229His) | |
| 19 | g.4817049C>T | CA505174394 | TICAM1 | c.1329G>A (p.Gln443=) c.912G>A (p.Gln304=) c.1287G>A (p.Gln429=) c.1194G>A (p.Gln398=) c.687G>A (p.Gln229=) | |
| 19 | g.4817050T>A | CA403490104 | TICAM1 | c.1328A>T (p.Gln443Leu) c.911A>T (p.Gln304Leu) c.1286A>T (p.Gln429Leu) c.1193A>T (p.Gln398Leu) c.686A>T (p.Gln229Leu) | |
| 19 | g.4817050T>C | CA403490107 | TICAM1 | c.1328A>G (p.Gln443Arg) c.911A>G (p.Gln304Arg) c.1286A>G (p.Gln429Arg) c.1193A>G (p.Gln398Arg) c.686A>G (p.Gln229Arg) | |
| 19 | g.4817050T>G | CA403490106 | TICAM1 | c.1328A>C (p.Gln443Pro) c.911A>C (p.Gln304Pro) c.1286A>C (p.Gln429Pro) c.1193A>C (p.Gln398Pro) c.686A>C (p.Gln229Pro) | |
| 19 | g.4817051G>A | CA403490110 | TICAM1 | c.1327C>T (p.Gln443Ter) c.910C>T (p.Gln304Ter) c.1285C>T (p.Gln429Ter) c.1192C>T (p.Gln398Ter) c.685C>T (p.Gln229Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4817051G>C | CA403490112 | TICAM1 | c.1327C>G (p.Gln443Glu) c.910C>G (p.Gln304Glu) c.1285C>G (p.Gln429Glu) c.1192C>G (p.Gln398Glu) c.685C>G (p.Gln229Glu) | |
| 19 | g.4817051G= | CA2319605121 | TICAM1 | c.1327C= (p.Gln443=) c.910C= (p.Gln304=) c.1285C= (p.Gln429=) c.1192C= (p.Gln398=) c.685C= (p.Gln229=) | |
| 19 | g.4817051G>T | CA403490114 | TICAM1 | c.1327C>A (p.Gln443Lys) c.910C>A (p.Gln304Lys) c.1285C>A (p.Gln429Lys) c.1192C>A (p.Gln398Lys) c.685C>A (p.Gln229Lys) | |
| 19 | g.4817052C>A | CA505174398 | TICAM1 | c.1326G>T (p.Leu442=) c.909G>T (p.Leu303=) c.1284G>T (p.Leu428=) c.1191G>T (p.Leu397=) c.684G>T (p.Leu228=) | |
| 19 | g.4817052C>G | CA505174399 | TICAM1 | c.1326G>C (p.Leu442=) c.909G>C (p.Leu303=) c.1284G>C (p.Leu428=) c.1191G>C (p.Leu397=) c.684G>C (p.Leu228=) | |
| 19 | g.4817052C>T | CA505174401 | TICAM1 | c.1326G>A (p.Leu442=) c.909G>A (p.Leu303=) c.1284G>A (p.Leu428=) c.1191G>A (p.Leu397=) c.684G>A (p.Leu228=) | |
| 19 | g.4817053A>C | CA403490116 | TICAM1 | c.1325T>G (p.Leu442Arg) c.908T>G (p.Leu303Arg) c.1283T>G (p.Leu428Arg) c.1190T>G (p.Leu397Arg) c.683T>G (p.Leu228Arg) | |
| 19 | g.4817053A>G | CA403490118 | TICAM1 | c.1325T>C (p.Leu442Pro) c.908T>C (p.Leu303Pro) c.1283T>C (p.Leu428Pro) c.1190T>C (p.Leu397Pro) c.683T>C (p.Leu228Pro) | |
| 19 | g.4817053A>T | CA403490120 | TICAM1 | c.1325T>A (p.Leu442Gln) c.908T>A (p.Leu303Gln) c.1283T>A (p.Leu428Gln) c.1190T>A (p.Leu397Gln) c.683T>A (p.Leu228Gln) | |
| 19 | g.4817054G>A | CA505174404 | TICAM1 | c.1324C>T (p.Leu442=) c.907C>T (p.Leu303=) c.1282C>T (p.Leu428=) c.1189C>T (p.Leu397=) c.682C>T (p.Leu228=) | gnomAD v4 |
| 19 | g.4817054G>C | CA403490122 | TICAM1 | c.1324C>G (p.Leu442Val) c.907C>G (p.Leu303Val) c.1282C>G (p.Leu428Val) c.1189C>G (p.Leu397Val) c.682C>G (p.Leu228Val) | |
| 19 | g.4817054G>T | CA403490124 | TICAM1 | c.1324C>A (p.Leu442Met) c.907C>A (p.Leu303Met) c.1282C>A (p.Leu428Met) c.1189C>A (p.Leu397Met) c.682C>A (p.Leu228Met) |