| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.167341105T>A | CA366424051 | TTLL2 | c.1205T>A (p.Leu402Ter) c.986T>A (p.Leu329Ter) | |
| 6 | g.167341105T>C | CA366424052 | TTLL2 | c.1205T>C (p.Leu402Ser) c.986T>C (p.Leu329Ser) | |
| 6 | g.167341105T>G | CA366424053 | TTLL2 | c.1205T>G (p.Leu402Trp) c.986T>G (p.Leu329Trp) | |
| 6 | g.167341106G>A | CA453305047 | TTLL2 | c.1206G>A (p.Leu402=) c.987G>A (p.Leu329=) | |
| 6 | g.167341106G>C | CA366424054 | TTLL2 | c.1206G>C (p.Leu402Phe) c.987G>C (p.Leu329Phe) | |
| 6 | g.167341106G>T | CA366424055 | TTLL2 | c.1206G>T (p.Leu402Phe) c.987G>T (p.Leu329Phe) | |
| 6 | g.167341107dup | CA2773968270 | TTLL2 | c.1207dup (p.Val403GlyfsTer8) c.988dup (p.Val330GlyfsTer8) | |
| 6 | g.167341107G>A | CA366424056 | TTLL2 | c.1207G>A (p.Val403Met) c.988G>A (p.Val330Met) | |
| 6 | g.167341107G>C | CA366424058 | TTLL2 | c.1207G>C (p.Val403Leu) c.988G>C (p.Val330Leu) | |
| 6 | g.167341107G>T | CA366424057 | TTLL2 | c.1207G>T (p.Val403Leu) c.988G>T (p.Val330Leu) | gnomAD v4 |
| 6 | g.167341108T>A | CA366424059 | TTLL2 | c.1208T>A (p.Val403Glu) c.989T>A (p.Val330Glu) | |
| 6 | g.167341108T>C | CA4097492 | TTLL2 | c.1208T>C (p.Val403Ala) c.989T>C (p.Val330Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.167341108T>G | CA366424060 | TTLL2 | c.1208T>G (p.Val403Gly) c.989T>G (p.Val330Gly) | |
| 6 | g.167341108T= | CA1680341949 | TTLL2 | c.1208T= (p.Val403=) c.989T= (p.Val330=) | |
| 6 | g.167341109G>A | CA4097493 | TTLL2 | c.1209G>A (p.Val403=) c.990G>A (p.Val330=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.167341109G>C | CA453305050 | TTLL2 | c.1209G>C (p.Val403=) c.990G>C (p.Val330=) | |
| 6 | g.167341109G= | CA1680341950 | TTLL2 | c.1209G= (p.Val403=) c.990G= (p.Val330=) | |
| 6 | g.167341109G>T | CA453305051 | TTLL2 | c.1209G>T (p.Val403=) c.990G>T (p.Val330=) | gnomAD v4 |
| 6 | g.167341109_167341110insTGTTTGGTTTTTGTTTGTGGC | CA2773968271 | TTLL2 | c.1209_1210insTGTTTGGTTTTTGTTTGTGGC (p.Val403_Lys404insCysLeuValPheValCysGly) c.990_991insTGTTTGGTTTTTGTTTGTGGC (p.Val330_Lys331insCysLeuValPheValCysGly) | |
| 6 | g.167341110A>C | CA366424062 | TTLL2 | c.1210A>C (p.Lys404Gln) c.991A>C (p.Lys331Gln) | |
| 6 | g.167341110A>G | CA366424061 | TTLL2 | c.1210A>G (p.Lys404Glu) c.991A>G (p.Lys331Glu) | |
| 6 | g.167341110A>T | CA366424063 | TTLL2 | c.1210A>T (p.Lys404Ter) c.991A>T (p.Lys331Ter) | |
| 6 | g.167341110_167341111insTTACTGGCTTCTCCCCCCTCATTTCTT | CA2773968272 | TTLL2 | c.1210_1211insTTACTGGCTTCTCCCCCCTCATTTCTT (p.Lys404IlefsTer10) c.991_992insTTACTGGCTTCTCCCCCCTCATTTCTT (p.Lys331IlefsTer10) | |
| 6 | g.167341111A>C | CA366424064 | TTLL2 | c.1211A>C (p.Lys404Thr) c.992A>C (p.Lys331Thr) | |
| 6 | g.167341111A>G | CA366424066 | TTLL2 | c.1211A>G (p.Lys404Arg) c.992A>G (p.Lys331Arg) | |
| 6 | g.167341111A>T | CA366424065 | TTLL2 | c.1211A>T (p.Lys404Met) c.992A>T (p.Lys331Met) | |
| 6 | g.167341112G>A | CA453305055 | TTLL2 | c.1212G>A (p.Lys404=) c.993G>A (p.Lys331=) | dbSNP gnomAD v4 |
| 6 | g.167341112G>C | CA366424067 | TTLL2 | c.1212G>C (p.Lys404Asn) c.993G>C (p.Lys331Asn) | |
| 6 | g.167341112G= | CA1680341951 | TTLL2 | c.1212G= (p.Lys404=) c.993G= (p.Lys331=) | |
| 6 | g.167341112G>T | CA366424068 | TTLL2 | c.1212G>T (p.Lys404Asn) c.993G>T (p.Lys331Asn) | |
| 6 | g.167341113A= | CA1680341952 | TTLL2 | c.1213A= (p.Arg405=) c.994A= (p.Arg332=) | |
| 6 | g.167341113A>C | CA453305056 | TTLL2 | c.1213A>C (p.Arg405=) c.994A>C (p.Arg332=) | |
| 6 | g.167341113A>G | CA366424069 | TTLL2 | c.1213A>G (p.Arg405Gly) c.994A>G (p.Arg332Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.167341113A>T | CA366424070 | TTLL2 | c.1213A>T (p.Arg405Ter) c.994A>T (p.Arg332Ter) | |
| 6 | g.167341114G>A | CA366424071 | TTLL2 | c.1214G>A (p.Arg405Lys) c.995G>A (p.Arg332Lys) | |
| 6 | g.167341114G>C | CA366424072 | TTLL2 | c.1214G>C (p.Arg405Thr) c.995G>C (p.Arg332Thr) | |
| 6 | g.167341114G>T | CA366424073 | TTLL2 | c.1214G>T (p.Arg405Ile) c.995G>T (p.Arg332Ile) | |
| 6 | g.167341115A>C | CA366424074 | TTLL2 | c.1215A>C (p.Arg405Ser) c.996A>C (p.Arg332Ser) | |
| 6 | g.167341115A>G | CA453305059 | TTLL2 | c.1215A>G (p.Arg405=) c.996A>G (p.Arg332=) | |
| 6 | g.167341115A>T | CA366424075 | TTLL2 | c.1215A>T (p.Arg405Ser) c.996A>T (p.Arg332Ser) | |
| 6 | g.167341116A>C | CA366424076 | TTLL2 | c.1216A>C (p.Lys406Gln) c.997A>C (p.Lys333Gln) | gnomAD v4 |
| 6 | g.167341116A>G | CA366424077 | TTLL2 | c.1216A>G (p.Lys406Glu) c.997A>G (p.Lys333Glu) | |
| 6 | g.167341116A>T | CA366424078 | TTLL2 | c.1216A>T (p.Lys406Ter) c.997A>T (p.Lys333Ter) | |
| 6 | g.167341117A>C | CA366424079 | TTLL2 | c.1217A>C (p.Lys406Thr) c.998A>C (p.Lys333Thr) | |
| 6 | g.167341117A>G | CA366424080 | TTLL2 | c.1217A>G (p.Lys406Arg) c.998A>G (p.Lys333Arg) | gnomAD v4 |
| 6 | g.167341117A>T | CA366424081 | TTLL2 | c.1217A>T (p.Lys406Ile) c.998A>T (p.Lys333Ile) | |
| 6 | g.167341118A>C | CA366424082 | TTLL2 | c.1218A>C (p.Lys406Asn) c.999A>C (p.Lys333Asn) | |
| 6 | g.167341118A>G | CA453305063 | TTLL2 | c.1218A>G (p.Lys406=) c.999A>G (p.Lys333=) | |
| 6 | g.167341118A>T | CA366424083 | TTLL2 | c.1218A>T (p.Lys406Asn) c.999A>T (p.Lys333Asn) | |
| 6 | g.167341119C>A | CA366424084 | TTLL2 | c.1219C>A (p.Leu407Ile) c.1000C>A (p.Leu334Ile) | |
| 6 | g.167341119C= | CA1680341953 | TTLL2 | c.1219C= (p.Leu407=) c.1000C= (p.Leu334=) | |
| 6 | g.167341119C>G | CA366424085 | TTLL2 | c.1219C>G (p.Leu407Val) c.1000C>G (p.Leu334Val) | dbSNP |
| 6 | g.167341119C>T | CA366424086 | TTLL2 | c.1219C>T (p.Leu407Phe) c.1000C>T (p.Leu334Phe) | dbSNP gnomAD v4 |
| 6 | g.167341120T>A | CA366424087 | TTLL2 | c.1220T>A (p.Leu407His) c.1001T>A (p.Leu334His) | |
| 6 | g.167341120T>C | CA366424088 | TTLL2 | c.1220T>C (p.Leu407Pro) c.1001T>C (p.Leu334Pro) | |
| 6 | g.167341120T>G | CA366424089 | TTLL2 | c.1220T>G (p.Leu407Arg) c.1001T>G (p.Leu334Arg) | COSMIC |
| 6 | g.167341121T>A | CA453305066 | TTLL2 | c.1221T>A (p.Leu407=) c.1002T>A (p.Leu334=) | |
| 6 | g.167341121T>C | CA453305068 | TTLL2 | c.1221T>C (p.Leu407=) c.1002T>C (p.Leu334=) | dbSNP |
| 6 | g.167341121T>G | CA453305069 | TTLL2 | c.1221T>G (p.Leu407=) c.1002T>G (p.Leu334=) | |
| 6 | g.167341121T= | CA1680341954 | TTLL2 | c.1221T= (p.Leu407=) c.1002T= (p.Leu334=) | |
| 6 | g.167341122G>A | CA366424090 | TTLL2 | c.1222G>A (p.Val408Ile) c.1003G>A (p.Val335Ile) | |
| 6 | g.167341122G>C | CA366424091 | TTLL2 | c.1222G>C (p.Val408Leu) c.1003G>C (p.Val335Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.167341122G= | CA1680341955 | TTLL2 | c.1222G= (p.Val408=) c.1003G= (p.Val335=) | |
| 6 | g.167341122G>T | CA366424092 | TTLL2 | c.1222G>T (p.Val408Phe) c.1003G>T (p.Val335Phe) | |
| 6 | g.167341123T>A | CA366424093 | TTLL2 | c.1223T>A (p.Val408Asp) c.1004T>A (p.Val335Asp) | |
| 6 | g.167341123T>C | CA366424094 | TTLL2 | c.1223T>C (p.Val408Ala) c.1004T>C (p.Val335Ala) | |
| 6 | g.167341123T>G | CA366424095 | TTLL2 | c.1223T>G (p.Val408Gly) c.1004T>G (p.Val335Gly) | |
| 6 | g.167341124C>A | CA453305070 | TTLL2 | c.1224C>A (p.Val408=) c.1005C>A (p.Val335=) | |
| 6 | g.167341124C>G | CA453305072 | TTLL2 | c.1224C>G (p.Val408=) c.1005C>G (p.Val335=) | |
| 6 | g.167341124C>T | CA453305074 | TTLL2 | c.1224C>T (p.Val408=) c.1005C>T (p.Val335=) | gnomAD v4 |
| 6 | g.167341125C>A | CA366424098 | TTLL2 | c.1225C>A (p.His409Asn) c.1006C>A (p.His336Asn) | |
| 6 | g.167341125C>G | CA366424096 | TTLL2 | c.1225C>G (p.His409Asp) c.1006C>G (p.His336Asp) | |
| 6 | g.167341125C>T | CA366424097 | TTLL2 | c.1225C>T (p.His409Tyr) c.1006C>T (p.His336Tyr) | |
| 6 | g.167341125_167341128delinsCATG | CA1680341956 | TTLL2 | c.1225_1228delinsCATG (p.His409=) c.1006_1009delinsCATG (p.His336=) | |
| 6 | g.167341126A= | CA1680341957 | TTLL2 | c.1226A= (p.His409=) c.1007A= (p.His336=) | |
| 6 | g.167341126A>C | CA366424099 | TTLL2 | c.1226A>C (p.His409Pro) c.1007A>C (p.His336Pro) | |
| 6 | g.167341126A>G | CA366424100 | TTLL2 | c.1226A>G (p.His409Arg) c.1007A>G (p.His336Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.167341126A>T | CA366424101 | TTLL2 | c.1226A>T (p.His409Leu) c.1007A>T (p.His336Leu) | |
| 6 | g.167341128_167341130del | CA572350552 | TTLL2 | c.1228_1230del (p.Asp410del) c.1009_1011del (p.Asp337del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.167341127T>A | CA366424102 | TTLL2 | c.1227T>A (p.His409Gln) c.1008T>A (p.His336Gln) | |
| 6 | g.167341127T>C | CA453305078 | TTLL2 | c.1227T>C (p.His409=) c.1008T>C (p.His336=) | |
| 6 | g.167341127T>G | CA4097494 | TTLL2 | c.1227T>G (p.His409Gln) c.1008T>G (p.His336Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.167341127T= | CA1680341958 | TTLL2 | c.1227T= (p.His409=) c.1008T= (p.His336=) | |
| 6 | g.167341128G>A | CA366424103 | TTLL2 | c.1228G>A (p.Asp410Asn) c.1009G>A (p.Asp337Asn) | |
| 6 | g.167341128G>C | CA366424104 | TTLL2 | c.1228G>C (p.Asp410His) c.1009G>C (p.Asp337His) | |
| 6 | g.167341128G= | CA1680341959 | TTLL2 | c.1228G= (p.Asp410=) c.1009G= (p.Asp337=) | |
| 6 | g.167341128G>T | CA4097495 | TTLL2 | c.1228G>T (p.Asp410Tyr) c.1009G>T (p.Asp337Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.167341129A= | CA1680341960 | TTLL2 | c.1229A= (p.Asp410=) c.1010A= (p.Asp337=) | |
| 6 | g.167341129A>C | CA366424105 | TTLL2 | c.1229A>C (p.Asp410Ala) c.1010A>C (p.Asp337Ala) | |
| 6 | g.167341129A>G | CA4097496 | TTLL2 | c.1229A>G (p.Asp410Gly) c.1010A>G (p.Asp337Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.167341129A>T | CA366424106 | TTLL2 | c.1229A>T (p.Asp410Val) c.1010A>T (p.Asp337Val) | |
| 6 | g.167341130T>A | CA366424107 | TTLL2 | c.1230T>A (p.Asp410Glu) c.1011T>A (p.Asp337Glu) | |
| 6 | g.167341130T>C | CA453305080 | TTLL2 | c.1230T>C (p.Asp410=) c.1011T>C (p.Asp337=) | |
| 6 | g.167341130T>G | CA366424108 | TTLL2 | c.1230T>G (p.Asp410Glu) c.1011T>G (p.Asp337Glu) | |
| 6 | g.167341131A>C | CA366424111 | TTLL2 | c.1231A>C (p.Ile411Leu) c.1012A>C (p.Ile338Leu) | |
| 6 | g.167341131A>G | CA366424109 | TTLL2 | c.1231A>G (p.Ile411Val) c.1012A>G (p.Ile338Val) | |
| 6 | g.167341131A>T | CA366424110 | TTLL2 | c.1231A>T (p.Ile411Phe) c.1012A>T (p.Ile338Phe) | |
| 6 | g.167341132T>A | CA366424112 | TTLL2 | c.1232T>A (p.Ile411Asn) c.1013T>A (p.Ile338Asn) | |
| 6 | g.167341132T>C | CA366424113 | TTLL2 | c.1232T>C (p.Ile411Thr) c.1013T>C (p.Ile338Thr) | gnomAD v4 |
| 6 | g.167341132T>G | CA366424114 | TTLL2 | c.1232T>G (p.Ile411Ser) c.1013T>G (p.Ile338Ser) | gnomAD v4 |
| 6 | g.167341133T>A | CA453305148 | TTLL2 | c.1233T>A (p.Ile411=) c.1014T>A (p.Ile338=) | |
| 6 | g.167341133T>C | CA453305149 | TTLL2 | c.1233T>C (p.Ile411=) c.1014T>C (p.Ile338=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.167341133T>G | CA366424115 | TTLL2 | c.1233T>G (p.Ile411Met) c.1014T>G (p.Ile338Met) | |
| 6 | g.167341133T= | CA1680341961 | TTLL2 | c.1233T= (p.Ile411=) c.1014T= (p.Ile338=) | |
| 6 | g.167341134A>C | CA366424116 | TTLL2 | c.1234A>C (p.Ile412Leu) c.1015A>C (p.Ile339Leu) | |
| 6 | g.167341134A>G | CA366424117 | TTLL2 | c.1234A>G (p.Ile412Val) c.1015A>G (p.Ile339Val) | |
| 6 | g.167341134A>T | CA366424118 | TTLL2 | c.1234A>T (p.Ile412Phe) c.1015A>T (p.Ile339Phe) | |
| 6 | g.167341135T>A | CA366424119 | TTLL2 | c.1235T>A (p.Ile412Asn) c.1016T>A (p.Ile339Asn) | |
| 6 | g.167341135T>C | CA366424120 | TTLL2 | c.1235T>C (p.Ile412Thr) c.1016T>C (p.Ile339Thr) | gnomAD v4 |
| 6 | g.167341135T>G | CA366424121 | TTLL2 | c.1235T>G (p.Ile412Ser) c.1016T>G (p.Ile339Ser) | |
| 6 | g.167341136T>A | CA4097497 | TTLL2 | c.1236T>A (p.Ile412=) c.1017T>A (p.Ile339=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.167341136T>C | CA453305152 | TTLL2 | c.1236T>C (p.Ile412=) c.1017T>C (p.Ile339=) | |
| 6 | g.167341136T>G | CA366424122 | TTLL2 | c.1236T>G (p.Ile412Met) c.1017T>G (p.Ile339Met) | |
| 6 | g.167341136T= | CA1680341962 | TTLL2 | c.1236T= (p.Ile412=) c.1017T= (p.Ile339=) | |
| 6 | g.167341137G>A | CA366424123 | TTLL2 | c.1237G>A (p.Asp413Asn) c.1018G>A (p.Asp340Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.167341137G>C | CA366424125 | TTLL2 | c.1237G>C (p.Asp413His) c.1018G>C (p.Asp340His) | |
| 6 | g.167341137G= | CA1680341963 | TTLL2 | c.1237G= (p.Asp413=) c.1018G= (p.Asp340=) | |
| 6 | g.167341137G>T | CA366424124 | TTLL2 | c.1237G>T (p.Asp413Tyr) c.1018G>T (p.Asp340Tyr) | gnomAD v4 |
| 6 | g.167341138A= | CA1680341964 | TTLL2 | c.1238A= (p.Asp413=) c.1019A= (p.Asp340=) | |
| 6 | g.167341138A>C | CA366424126 | TTLL2 | c.1238A>C (p.Asp413Ala) c.1019A>C (p.Asp340Ala) | |
| 6 | g.167341138A>G | CA366424127 | TTLL2 | c.1238A>G (p.Asp413Gly) c.1019A>G (p.Asp340Gly) | |
| 6 | g.167341138A>T | CA366424128 | TTLL2 | c.1238A>T (p.Asp413Val) c.1019A>T (p.Asp340Val) | dbSNP |
| 6 | g.167341139C>A | CA366424129 | TTLL2 | c.1239C>A (p.Asp413Glu) c.1020C>A (p.Asp340Glu) | |
| 6 | g.167341139C>G | CA366424130 | TTLL2 | c.1239C>G (p.Asp413Glu) c.1020C>G (p.Asp340Glu) | |
| 6 | g.167341139C>T | CA453305155 | TTLL2 | c.1239C>T (p.Asp413=) c.1020C>T (p.Asp340=) | gnomAD v4 |
| 6 | g.167341140C>A | CA366424131 | TTLL2 | c.1240C>A (p.Leu414Met) c.1021C>A (p.Leu341Met) | gnomAD v4 |
| 6 | g.167341140C= | CA1680341965 | TTLL2 | c.1240C= (p.Leu414=) c.1021C= (p.Leu341=) | |
| 6 | g.167341140C>G | CA366424132 | TTLL2 | c.1240C>G (p.Leu414Val) c.1021C>G (p.Leu341Val) | |
| 6 | g.167341140C>T | CA4097498 | TTLL2 | c.1240C>T (p.Leu414=) c.1021C>T (p.Leu341=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.167341141T>A | CA366424133 | TTLL2 | c.1241T>A (p.Leu414Gln) c.1022T>A (p.Leu341Gln) | |
| 6 | g.167341141T>C | CA366424135 | TTLL2 | c.1241T>C (p.Leu414Pro) c.1022T>C (p.Leu341Pro) | dbSNP |
| 6 | g.167341141T>G | CA366424134 | TTLL2 | c.1241T>G (p.Leu414Arg) c.1022T>G (p.Leu341Arg) | |
| 6 | g.167341141T= | CA1680341966 | TTLL2 | c.1241T= (p.Leu414=) c.1022T= (p.Leu341=) | |
| 6 | g.167341143_167341155del | CA2681211340 | TTLL2 | c.1243_1255del (p.Ile415ValfsTer2) c.1024_1036del (p.Ile342ValfsTer2) | gnomAD v4 |
| 6 | g.167341142G>A | CA4097499 | TTLL2 | c.1242G>A (p.Leu414=) c.1023G>A (p.Leu341=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.167341142G>C | CA453305159 | TTLL2 | c.1242G>C (p.Leu414=) c.1023G>C (p.Leu341=) | |
| 6 | g.167341142G= | CA1680341967 | TTLL2 | c.1242G= (p.Leu414=) c.1023G= (p.Leu341=) | |
| 6 | g.167341142G>T | CA453305161 | TTLL2 | c.1242G>T (p.Leu414=) c.1023G>T (p.Leu341=) | |
| 6 | g.167341142_167341143delinsGA | CA1680341968 | TTLL2 | c.1242_1243delinsGA (p.Leu414=) c.1023_1024delinsGA (p.Leu341=) | |
| 6 | g.167341143del | CA822304994 | TTLL2 | c.1243del (p.Ile415PhefsTer3) c.1024del (p.Ile342PhefsTer3) | dbSNP |
| 6 | g.167341143A>C | CA366424136 | TTLL2 | c.1243A>C (p.Ile415Leu) c.1024A>C (p.Ile342Leu) | |
| 6 | g.167341143A>G | CA366424137 | TTLL2 | c.1243A>G (p.Ile415Val) c.1024A>G (p.Ile342Val) | |
| 6 | g.167341143A>T | CA366424138 | TTLL2 | c.1243A>T (p.Ile415Phe) c.1024A>T (p.Ile342Phe) | |
| 6 | g.167341144T>A | CA366424139 | TTLL2 | c.1244T>A (p.Ile415Asn) c.1025T>A (p.Ile342Asn) | |
| 6 | g.167341144T>C | CA366424141 | TTLL2 | c.1244T>C (p.Ile415Thr) c.1025T>C (p.Ile342Thr) | |
| 6 | g.167341144T>G | CA366424140 | TTLL2 | c.1244T>G (p.Ile415Ser) c.1025T>G (p.Ile342Ser) | |
| 6 | g.167341145T>A | CA453305162 | TTLL2 | c.1245T>A (p.Ile415=) c.1026T>A (p.Ile342=) | |
| 6 | g.167341145T>C | CA453305164 | TTLL2 | c.1245T>C (p.Ile415=) c.1026T>C (p.Ile342=) | |
| 6 | g.167341145T>G | CA366424142 | TTLL2 | c.1245T>G (p.Ile415Met) c.1026T>G (p.Ile342Met) | gnomAD v4 |
| 6 | g.167341146T>A | CA366424143 | TTLL2 | c.1246T>A (p.Tyr416Asn) c.1027T>A (p.Tyr343Asn) | |
| 6 | g.167341146T>C | CA366424144 | TTLL2 | c.1246T>C (p.Tyr416His) c.1027T>C (p.Tyr343His) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.167341146T>G | CA366424145 | TTLL2 | c.1246T>G (p.Tyr416Asp) c.1027T>G (p.Tyr343Asp) | |
| 6 | g.167341146T= | CA1680341969 | TTLL2 | c.1246T= (p.Tyr416=) c.1027T= (p.Tyr343=) | |
| 6 | g.167341147A= | CA1680341970 | TTLL2 | c.1247A= (p.Tyr416=) c.1028A= (p.Tyr343=) | |
| 6 | g.167341147A>C | CA366424146 | TTLL2 | c.1247A>C (p.Tyr416Ser) c.1028A>C (p.Tyr343Ser) | |
| 6 | g.167341147A>G | CA366424147 | TTLL2 | c.1247A>G (p.Tyr416Cys) c.1028A>G (p.Tyr343Cys) | |
| 6 | g.167341147A>T | CA366424148 | TTLL2 | c.1247A>T (p.Tyr416Phe) c.1028A>T (p.Tyr343Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.167341148C>A | CA366424149 | TTLL2 | c.1248C>A (p.Tyr416Ter) c.1029C>A (p.Tyr343Ter) | |
| 6 | g.167341148C>G | CA366424150 | TTLL2 | c.1248C>G (p.Tyr416Ter) c.1029C>G (p.Tyr343Ter) | gnomAD v4 |
| 6 | g.167341148C>T | CA453305168 | TTLL2 | c.1248C>T (p.Tyr416=) c.1029C>T (p.Tyr343=) | |
| 6 | g.167341149T>A | CA366424151 | TTLL2 | c.1249T>A (p.Leu417Ile) c.1030T>A (p.Leu344Ile) | |
| 6 | g.167341149T>C | CA453305170 | TTLL2 | c.1249T>C (p.Leu417=) c.1030T>C (p.Leu344=) | |
| 6 | g.167341149T>G | CA366424152 | TTLL2 | c.1249T>G (p.Leu417Val) c.1030T>G (p.Leu344Val) | |
| 6 | g.167341150T>A | CA366424153 | TTLL2 | c.1250T>A (p.Leu417Ter) c.1031T>A (p.Leu344Ter) | COSMIC |
| 6 | g.167341150T>C | CA366424155 | TTLL2 | c.1250T>C (p.Leu417Ser) c.1031T>C (p.Leu344Ser) | |
| 6 | g.167341150T>G | CA366424154 | TTLL2 | c.1250T>G (p.Leu417Ter) c.1031T>G (p.Leu344Ter) | |
| 6 | g.167341151A>C | CA366424156 | TTLL2 | c.1251A>C (p.Leu417Phe) c.1032A>C (p.Leu344Phe) | |
| 6 | g.167341151A>G | CA453305174 | TTLL2 | c.1251A>G (p.Leu417=) c.1032A>G (p.Leu344=) | gnomAD v4 |
| 6 | g.167341151A>T | CA366424157 | TTLL2 | c.1251A>T (p.Leu417Phe) c.1032A>T (p.Leu344Phe) | |
| 6 | g.167341152A= | CA1680341971 | TTLL2 | c.1252A= (p.Asn418=) c.1033A= (p.Asn345=) | |
| 6 | g.167341152A>C | CA366424158 | TTLL2 | c.1252A>C (p.Asn418His) c.1033A>C (p.Asn345His) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.167341152A>G | CA366424159 | TTLL2 | c.1252A>G (p.Asn418Asp) c.1033A>G (p.Asn345Asp) | |
| 6 | g.167341152A>T | CA366424160 | TTLL2 | c.1252A>T (p.Asn418Tyr) c.1033A>T (p.Asn345Tyr) | |
| 6 | g.167341153A>C | CA366424161 | TTLL2 | c.1253A>C (p.Asn418Thr) c.1034A>C (p.Asn345Thr) | |
| 6 | g.167341153A>G | CA366424162 | TTLL2 | c.1253A>G (p.Asn418Ser) c.1034A>G (p.Asn345Ser) | |
| 6 | g.167341153A>T | CA366424163 | TTLL2 | c.1253A>T (p.Asn418Ile) c.1034A>T (p.Asn345Ile) | |
| 6 | g.167341154T>A | CA366424164 | TTLL2 | c.1254T>A (p.Asn418Lys) c.1035T>A (p.Asn345Lys) | |
| 6 | g.167341154T>C | CA453305178 | TTLL2 | c.1254T>C (p.Asn418=) c.1035T>C (p.Asn345=) | gnomAD v4 |
| 6 | g.167341154T>G | CA366424165 | TTLL2 | c.1254T>G (p.Asn418Lys) c.1035T>G (p.Asn345Lys) | |
| 6 | g.167341155G>A | CA366424166 | TTLL2 | c.1255G>A (p.Gly419Ser) c.1036G>A (p.Gly346Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.167341155G>C | CA366424167 | TTLL2 | c.1255G>C (p.Gly419Arg) c.1036G>C (p.Gly346Arg) | gnomAD v4 |
| 6 | g.167341155G= | CA1680341972 | TTLL2 | c.1255G= (p.Gly419=) c.1036G= (p.Gly346=) | |
| 6 | g.167341155G>T | CA366424168 | TTLL2 | c.1255G>T (p.Gly419Cys) c.1036G>T (p.Gly346Cys) | |
| 6 | g.167341156G>A | CA151970215 | TTLL2 | c.1256G>A (p.Gly419Asp) c.1037G>A (p.Gly346Asp) | dbSNP gnomAD v4 COSMIC |
| 6 | g.167341156G>C | CA366424170 | TTLL2 | c.1256G>C (p.Gly419Ala) c.1037G>C (p.Gly346Ala) | |
| 6 | g.167341156G= | CA1680341973 | TTLL2 | c.1256G= (p.Gly419=) c.1037G= (p.Gly346=) | |
| 6 | g.167341156G>T | CA366424169 | TTLL2 | c.1256G>T (p.Gly419Val) c.1037G>T (p.Gly346Val) | |
| 6 | g.167341157T>A | CA453305183 | TTLL2 | c.1257T>A (p.Gly419=) c.1038T>A (p.Gly346=) | |
| 6 | g.167341157T>C | CA453305184 | TTLL2 | c.1257T>C (p.Gly419=) c.1038T>C (p.Gly346=) | |
| 6 | g.167341157T>G | CA453305185 | TTLL2 | c.1257T>G (p.Gly419=) c.1038T>G (p.Gly346=) | dbSNP |
| 6 | g.167341157T= | CA1680341974 | TTLL2 | c.1257T= (p.Gly419=) c.1038T= (p.Gly346=) | |
| 6 | g.167341158C>A | CA366424171 | TTLL2 | c.1258C>A (p.Leu420Ile) c.1039C>A (p.Leu347Ile) | gnomAD v4 |
| 6 | g.167341158C= | CA1680341976 | TTLL2 | c.1258C= (p.Leu420=) c.1039C= (p.Leu347=) | |
| 6 | g.167341158C>G | CA366424172 | TTLL2 | c.1258C>G (p.Leu420Val) c.1039C>G (p.Leu347Val) | |
| 6 | g.167341158C>T | CA453305186 | TTLL2 | c.1258C>T (p.Leu420=) c.1039C>T (p.Leu347=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.167341158dup | CA1680341975 | TTLL2 | c.1258dup (p.Leu420ProfsTer4) c.1039dup (p.Leu347ProfsTer4) | dbSNP |
| 6 | g.167341159T>A | CA366424173 | TTLL2 | c.1259T>A (p.Leu420Gln) c.1040T>A (p.Leu347Gln) | |
| 6 | g.167341159T>C | CA366424174 | TTLL2 | c.1259T>C (p.Leu420Pro) c.1040T>C (p.Leu347Pro) | |
| 6 | g.167341159T>G | CA366424175 | TTLL2 | c.1259T>G (p.Leu420Arg) c.1040T>G (p.Leu347Arg) | |
| 6 | g.167341160A>C | CA453305188 | TTLL2 | c.1260A>C (p.Leu420=) c.1041A>C (p.Leu347=) | |
| 6 | g.167341160A>G | CA453305189 | TTLL2 | c.1260A>G (p.Leu420=) c.1041A>G (p.Leu347=) | |
| 6 | g.167341160A>T | CA453305191 | TTLL2 | c.1260A>T (p.Leu420=) c.1041A>T (p.Leu347=) | |
| 6 | g.167341161A>C | CA453305192 | TTLL2 | c.1261A>C (p.Arg421=) c.1042A>C (p.Arg348=) | |
| 6 | g.167341161A>G | CA366424176 | TTLL2 | c.1261A>G (p.Arg421Gly) c.1042A>G (p.Arg348Gly) | gnomAD v4 |
| 6 | g.167341161A>T | CA366424177 | TTLL2 | c.1261A>T (p.Arg421Ter) c.1042A>T (p.Arg348Ter) | |
| 6 | g.167341162G>A | CA366424178 | TTLL2 | c.1262G>A (p.Arg421Lys) c.1043G>A (p.Arg348Lys) | |
| 6 | g.167341162G>C | CA366424179 | TTLL2 | c.1262G>C (p.Arg421Thr) c.1043G>C (p.Arg348Thr) | |
| 6 | g.167341162G>T | CA366424180 | TTLL2 | c.1262G>T (p.Arg421Ile) c.1043G>T (p.Arg348Ile) | |
| 6 | g.167341163A>C | CA366424182 | TTLL2 | c.1263A>C (p.Arg421Ser) c.1044A>C (p.Arg348Ser) | |
| 6 | g.167341163A>G | CA453305193 | TTLL2 | c.1263A>G (p.Arg421=) c.1044A>G (p.Arg348=) | |
| 6 | g.167341163A>T | CA366424181 | TTLL2 | c.1263A>T (p.Arg421Ser) c.1044A>T (p.Arg348Ser) | |
| 6 | g.167341164A>C | CA366424183 | TTLL2 | c.1264A>C (p.Asn422His) c.1045A>C (p.Asn349His) | |
| 6 | g.167341164A>G | CA366424185 | TTLL2 | c.1264A>G (p.Asn422Asp) c.1045A>G (p.Asn349Asp) | |
| 6 | g.167341164A>T | CA366424184 | TTLL2 | c.1264A>T (p.Asn422Tyr) c.1045A>T (p.Asn349Tyr) | |
| 6 | g.167341165A>C | CA366424186 | TTLL2 | c.1265A>C (p.Asn422Thr) c.1046A>C (p.Asn349Thr) | |
| 6 | g.167341165A>G | CA366424187 | TTLL2 | c.1265A>G (p.Asn422Ser) c.1046A>G (p.Asn349Ser) | |
| 6 | g.167341165A>T | CA366424188 | TTLL2 | c.1265A>T (p.Asn422Ile) c.1046A>T (p.Asn349Ile) | |
| 6 | g.167341166T>A | CA366424189 | TTLL2 | c.1266T>A (p.Asn422Lys) c.1047T>A (p.Asn349Lys) | |
| 6 | g.167341166T>C | CA453305199 | TTLL2 | c.1266T>C (p.Asn422=) c.1047T>C (p.Asn349=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.167341166T>G | CA366424190 | TTLL2 | c.1266T>G (p.Asn422Lys) c.1047T>G (p.Asn349Lys) | |
| 6 | g.167341166T= | CA1680341977 | TTLL2 | c.1266T= (p.Asn422=) c.1047T= (p.Asn349=) | |
| 6 | g.167341166_167341168delinsTGA | CA1680341978 | TTLL2 | c.1266_1268delinsTGA (p.Asn422=) c.1047_1049delinsTGA (p.Asn349=) | |
| 6 | g.167341167G>A | CA366424191 | TTLL2 | c.1267G>A (p.Glu423Lys) c.1048G>A (p.Glu350Lys) | dbSNP gnomAD v4 |
| 6 | g.167341167G>C | CA366424192 | TTLL2 | c.1267G>C (p.Glu423Gln) c.1048G>C (p.Glu350Gln) | |
| 6 | g.167341167G= | CA1680341980 | TTLL2 | c.1267G= (p.Glu423=) c.1048G= (p.Glu350=) | |
| 6 | g.167341167G>T | CA366424193 | TTLL2 | c.1267G>T (p.Glu423Ter) c.1048G>T (p.Glu350Ter) | |
| 6 | g.167341167_167341168delinsGA | CA1680341981 | TTLL2 | c.1267_1268delinsGA (p.Glu423=) c.1048_1049delinsGA (p.Glu350=) | |
| 6 | g.167341168_167341169del | CA1680341979 | TTLL2 | c.1268_1269del (p.Glu423GlyfsTer6) c.1049_1050del (p.Glu350GlyfsTer6) | dbSNP |
| 6 | g.167341168del | CA1097049337 | TTLL2 | c.1268del (p.Glu423GlyfsTer?) c.1049del (p.Glu350GlyfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.167341168A= | CA1680341982 | TTLL2 | c.1268A= (p.Glu423=) c.1049A= (p.Glu350=) | |
| 6 | g.167341168A>C | CA366424194 | TTLL2 | c.1268A>C (p.Glu423Ala) c.1049A>C (p.Glu350Ala) | |
| 6 | g.167341168A>G | CA4097500 | TTLL2 | c.1268A>G (p.Glu423Gly) c.1049A>G (p.Glu350Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.167341168A>T | CA366424195 | TTLL2 | c.1268A>T (p.Glu423Val) c.1049A>T (p.Glu350Val) | |
| 6 | g.167341169G>A | CA453305206 | TTLL2 | c.1269G>A (p.Glu423=) c.1050G>A (p.Glu350=) | dbSNP |
| 6 | g.167341169G>C | CA366424196 | TTLL2 | c.1269G>C (p.Glu423Asp) c.1050G>C (p.Glu350Asp) | |
| 6 | g.167341169G= | CA1680341983 | TTLL2 | c.1269G= (p.Glu423=) c.1050G= (p.Glu350=) | |
| 6 | g.167341169G>T | CA366424197 | TTLL2 | c.1269G>T (p.Glu423Asp) c.1050G>T (p.Glu350Asp) | |
| 6 | g.167341172dup | CA645551844 | TTLL2 | c.1272dup (p.Arg425GlufsTer5) c.1053dup (p.Arg352GlufsTer5) | gnomAD v4 COSMIC |
| 6 | g.167341170G>A | CA4097501 | TTLL2 | c.1270G>A (p.Gly424Arg) c.1051G>A (p.Gly351Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.167341170G>C | CA366424199 | TTLL2 | c.1270G>C (p.Gly424Arg) c.1051G>C (p.Gly351Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.167341170G= | CA1680341984 | TTLL2 | c.1270G= (p.Gly424=) c.1051G= (p.Gly351=) | |
| 6 | g.167341170G>T | CA366424198 | TTLL2 | c.1270G>T (p.Gly424Trp) c.1051G>T (p.Gly351Trp) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.167341171G>A | CA366424200 | TTLL2 | c.1271G>A (p.Gly424Glu) c.1052G>A (p.Gly351Glu) | gnomAD v4 |
| 6 | g.167341171G>C | CA366424201 | TTLL2 | c.1271G>C (p.Gly424Ala) c.1052G>C (p.Gly351Ala) | |
| 6 | g.167341171G>T | CA366424202 | TTLL2 | c.1271G>T (p.Gly424Val) c.1052G>T (p.Gly351Val) | |
| 6 | g.167341172G>A | CA453305210 | TTLL2 | c.1272G>A (p.Gly424=) c.1053G>A (p.Gly351=) | gnomAD v4 |
| 6 | g.167341172G>C | CA453305211 | TTLL2 | c.1272G>C (p.Gly424=) c.1053G>C (p.Gly351=) | |
| 6 | g.167341172G= | CA1680341985 | TTLL2 | c.1272G= (p.Gly424=) c.1053G= (p.Gly351=) | |
| 6 | g.167341172G>T | CA453305212 | TTLL2 | c.1272G>T (p.Gly424=) c.1053G>T (p.Gly351=) | dbSNP gnomAD v4 |
| 6 | g.167341172_167341173delinsGA | CA1680341986 | TTLL2 | c.1272_1273delinsGA (p.Gly424=) c.1053_1054delinsGA (p.Gly351=) | |
| 6 | g.167341173del | CA453305214 | TTLL2 | c.1273del (p.Arg425GlufsTer?) c.1054del (p.Arg352GlufsTer?) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.167341173A= | CA1680341987 | TTLL2 | c.1273A= (p.Arg425=) c.1054A= (p.Arg352=) | |
| 6 | g.167341173A>C | CA453305213 | TTLL2 | c.1273A>C (p.Arg425=) c.1054A>C (p.Arg352=) | dbSNP |
| 6 | g.167341173A>G | CA4097502 | TTLL2 | c.1273A>G (p.Arg425Gly) c.1054A>G (p.Arg352Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.167341173A>T | CA366424203 | TTLL2 | c.1273A>T (p.Arg425Ter) c.1054A>T (p.Arg352Ter) | dbSNP |
| 6 | g.167341174G>A | CA366424204 | TTLL2 | c.1274G>A (p.Arg425Lys) c.1055G>A (p.Arg352Lys) | |
| 6 | g.167341174G>C | CA366424205 | TTLL2 | c.1274G>C (p.Arg425Thr) c.1055G>C (p.Arg352Thr) | gnomAD v4 |
| 6 | g.167341174G>T | CA366424206 | TTLL2 | c.1274G>T (p.Arg425Ile) c.1055G>T (p.Arg352Ile) | |
| 6 | g.167341175A>C | CA366424207 | TTLL2 | c.1275A>C (p.Arg425Ser) c.1056A>C (p.Arg352Ser) | |
| 6 | g.167341175A>G | CA453305218 | TTLL2 | c.1275A>G (p.Arg425=) c.1056A>G (p.Arg352=) | |
| 6 | g.167341175A>T | CA366424208 | TTLL2 | c.1275A>T (p.Arg425Ser) c.1056A>T (p.Arg352Ser) | |
| 6 | g.167341176G>A | CA4097503 | TTLL2 | c.1276G>A (p.Glu426Lys) c.1057G>A (p.Glu353Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.167341176G>C | CA366424210 | TTLL2 | c.1276G>C (p.Glu426Gln) c.1057G>C (p.Glu353Gln) | dbSNP |
| 6 | g.167341176G= | CA1680341988 | TTLL2 | c.1276G= (p.Glu426=) c.1057G= (p.Glu353=) | |
| 6 | g.167341176G>T | CA366424209 | TTLL2 | c.1276G>T (p.Glu426Ter) c.1057G>T (p.Glu353Ter) | |
| 6 | g.167341177A>C | CA366424213 | TTLL2 | c.1277A>C (p.Glu426Ala) c.1058A>C (p.Glu353Ala) | |
| 6 | g.167341177A>G | CA366424211 | TTLL2 | c.1277A>G (p.Glu426Gly) c.1058A>G (p.Glu353Gly) | |
| 6 | g.167341177A>T | CA366424212 | TTLL2 | c.1277A>T (p.Glu426Val) c.1058A>T (p.Glu353Val) | |
| 6 | g.167341178A>C | CA366424214 | TTLL2 | c.1278A>C (p.Glu426Asp) c.1059A>C (p.Glu353Asp) | |
| 6 | g.167341178A>G | CA453305219 | TTLL2 | c.1278A>G (p.Glu426=) c.1059A>G (p.Glu353=) | |
| 6 | g.167341178A>T | CA366424215 | TTLL2 | c.1278A>T (p.Glu426Asp) c.1059A>T (p.Glu353Asp) | |
| 6 | g.167341179G>A | CA366424216 | TTLL2 | c.1279G>A (p.Ala427Thr) c.1060G>A (p.Ala354Thr) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.167341179G>C | CA366424217 | TTLL2 | c.1279G>C (p.Ala427Pro) c.1060G>C (p.Ala354Pro) | |
| 6 | g.167341179G= | CA1680341989 | TTLL2 | c.1279G= (p.Ala427=) c.1060G= (p.Ala354=) | |
| 6 | g.167341179G>T | CA366424218 | TTLL2 | c.1279G>T (p.Ala427Ser) c.1060G>T (p.Ala354Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.167341183_167341191del | CA2681211341 | TTLL2 | c.1283_1291del (p.Ser428_Ala430del) c.1064_1072del (p.Ser355_Ala357del) | gnomAD v4 |
| 6 | g.167341180C>A | CA366424219 | TTLL2 | c.1280C>A (p.Ala427Asp) c.1061C>A (p.Ala354Asp) | |
| 6 | g.167341180C>G | CA366424220 | TTLL2 | c.1280C>G (p.Ala427Gly) c.1061C>G (p.Ala354Gly) | |
| 6 | g.167341180C>T | CA366424221 | TTLL2 | c.1280C>T (p.Ala427Val) c.1061C>T (p.Ala354Val) | |
| 6 | g.167341181C>A | CA453305224 | TTLL2 | c.1281C>A (p.Ala427=) c.1062C>A (p.Ala354=) | |
| 6 | g.167341181C>G | CA453305225 | TTLL2 | c.1281C>G (p.Ala427=) c.1062C>G (p.Ala354=) | |
| 6 | g.167341181C>T | CA453305226 | TTLL2 | c.1281C>T (p.Ala427=) c.1062C>T (p.Ala354=) | |
| 6 | g.167341182A>C | CA366424222 | TTLL2 | c.1282A>C (p.Ser428Arg) c.1063A>C (p.Ser355Arg) | |
| 6 | g.167341182A>G | CA366424223 | TTLL2 | c.1282A>G (p.Ser428Gly) c.1063A>G (p.Ser355Gly) | |
| 6 | g.167341182A>T | CA366424224 | TTLL2 | c.1282A>T (p.Ser428Cys) c.1063A>T (p.Ser355Cys) | |
| 6 | g.167341183G>A | CA366424227 | TTLL2 | c.1283G>A (p.Ser428Asn) c.1064G>A (p.Ser355Asn) | gnomAD v4 |
| 6 | g.167341183G>C | CA366424225 | TTLL2 | c.1283G>C (p.Ser428Thr) c.1064G>C (p.Ser355Thr) | |
| 6 | g.167341183G>T | CA366424226 | TTLL2 | c.1283G>T (p.Ser428Ile) c.1064G>T (p.Ser355Ile) | |
| 6 | g.167341184T>A | CA366424228 | TTLL2 | c.1284T>A (p.Ser428Arg) c.1065T>A (p.Ser355Arg) | |
| 6 | g.167341184T>C | CA453305227 | TTLL2 | c.1284T>C (p.Ser428=) c.1065T>C (p.Ser355=) | |
| 6 | g.167341184T>G | CA366424229 | TTLL2 | c.1284T>G (p.Ser428Arg) c.1065T>G (p.Ser355Arg) | |
| 6 | g.167341185A>C | CA366424230 | TTLL2 | c.1285A>C (p.Asn429His) c.1066A>C (p.Asn356His) | |
| 6 | g.167341185A>G | CA366424231 | TTLL2 | c.1285A>G (p.Asn429Asp) c.1066A>G (p.Asn356Asp) | |
| 6 | g.167341185A>T | CA366424232 | TTLL2 | c.1285A>T (p.Asn429Tyr) c.1066A>T (p.Asn356Tyr) | |
| 6 | g.167341186A= | CA1680341990 | TTLL2 | c.1286A= (p.Asn429=) c.1067A= (p.Asn356=) | |
| 6 | g.167341186A>C | CA366424233 | TTLL2 | c.1286A>C (p.Asn429Thr) c.1067A>C (p.Asn356Thr) | |
| 6 | g.167341186A>G | CA366424234 | TTLL2 | c.1286A>G (p.Asn429Ser) c.1067A>G (p.Asn356Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.167341186A>T | CA366424235 | TTLL2 | c.1286A>T (p.Asn429Ile) c.1067A>T (p.Asn356Ile) | |
| 6 | g.167341187T>A | CA4097504 | TTLL2 | c.1287T>A (p.Asn429Lys) c.1068T>A (p.Asn356Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.167341187T>C | CA453305231 | TTLL2 | c.1287T>C (p.Asn429=) c.1068T>C (p.Asn356=) | |
| 6 | g.167341187T>G | CA366424236 | TTLL2 | c.1287T>G (p.Asn429Lys) c.1068T>G (p.Asn356Lys) | |
| 6 | g.167341187T= | CA1680341991 | TTLL2 | c.1287T= (p.Asn429=) c.1068T= (p.Asn356=) | |
| 6 | g.167341188G>A | CA366424237 | TTLL2 | c.1288G>A (p.Ala430Thr) c.1069G>A (p.Ala357Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.167341188G>C | CA366424238 | TTLL2 | c.1288G>C (p.Ala430Pro) c.1069G>C (p.Ala357Pro) | |
| 6 | g.167341188G= | CA1680341992 | TTLL2 | c.1288G= (p.Ala430=) c.1069G= (p.Ala357=) | |
| 6 | g.167341188G>T | CA366424239 | TTLL2 | c.1288G>T (p.Ala430Ser) c.1069G>T (p.Ala357Ser) | |
| 6 | g.167341189C>A | CA366424241 | TTLL2 | c.1289C>A (p.Ala430Asp) c.1070C>A (p.Ala357Asp) | gnomAD v4 |
| 6 | g.167341189C>G | CA366424242 | TTLL2 | c.1289C>G (p.Ala430Gly) c.1070C>G (p.Ala357Gly) | |
| 6 | g.167341189C>T | CA366424240 | TTLL2 | c.1289C>T (p.Ala430Val) c.1070C>T (p.Ala357Val) | |
| 6 | g.167341190C>A | CA453305236 | TTLL2 | c.1290C>A (p.Ala430=) c.1071C>A (p.Ala357=) | |
| 6 | g.167341190C>G | CA453305237 | TTLL2 | c.1290C>G (p.Ala430=) c.1071C>G (p.Ala357=) | |
| 6 | g.167341190C>T | CA453305235 | TTLL2 | c.1290C>T (p.Ala430=) c.1071C>T (p.Ala357=) | |
| 6 | g.167341191A>C | CA366424243 | TTLL2 | c.1291A>C (p.Thr431Pro) c.1072A>C (p.Thr358Pro) | |
| 6 | g.167341191A>G | CA366424245 | TTLL2 | c.1291A>G (p.Thr431Ala) c.1072A>G (p.Thr358Ala) | gnomAD v4 |
| 6 | g.167341191A>T | CA366424244 | TTLL2 | c.1291A>T (p.Thr431Ser) c.1072A>T (p.Thr358Ser) | |
| 6 | g.167341192C>A | CA366424246 | TTLL2 | c.1292C>A (p.Thr431Lys) c.1073C>A (p.Thr358Lys) | |
| 6 | g.167341192C= | CA1680341993 | TTLL2 | c.1292C= (p.Thr431=) c.1073C= (p.Thr358=) | |
| 6 | g.167341192C>G | CA366424247 | TTLL2 | c.1292C>G (p.Thr431Arg) c.1073C>G (p.Thr358Arg) | |
| 6 | g.167341192C>T | CA366424248 | TTLL2 | c.1292C>T (p.Thr431Ile) c.1073C>T (p.Thr358Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.167341193A= | CA1680341994 | TTLL2 | c.1293A= (p.Thr431=) c.1074A= (p.Thr358=) | |
| 6 | g.167341193A>C | CA453305241 | TTLL2 | c.1293A>C (p.Thr431=) c.1074A>C (p.Thr358=) | |
| 6 | g.167341193A>G | CA453305244 | TTLL2 | c.1293A>G (p.Thr431=) c.1074A>G (p.Thr358=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.167341193A>T | CA453305242 | TTLL2 | c.1293A>T (p.Thr431=) c.1074A>T (p.Thr358=) | |
| 6 | g.167341194C>A | CA366424249 | TTLL2 | c.1294C>A (p.His432Asn) c.1075C>A (p.His359Asn) | dbSNP gnomAD v4 |
| 6 | g.167341194C= | CA1680341995 | TTLL2 | c.1294C= (p.His432=) c.1075C= (p.His359=) | |
| 6 | g.167341194C>G | CA366424250 | TTLL2 | c.1294C>G (p.His432Asp) c.1075C>G (p.His359Asp) | |
| 6 | g.167341194C>T | CA366424251 | TTLL2 | c.1294C>T (p.His432Tyr) c.1075C>T (p.His359Tyr) | gnomAD v4 |
| 6 | g.167341195A= | CA1680341996 | TTLL2 | c.1295A= (p.His432=) c.1076A= (p.His359=) | |
| 6 | g.167341195A>C | CA366424252 | TTLL2 | c.1295A>C (p.His432Pro) c.1076A>C (p.His359Pro) | |
| 6 | g.167341195A>G | CA366424253 | TTLL2 | c.1295A>G (p.His432Arg) c.1076A>G (p.His359Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.167341195A>T | CA4097505 | TTLL2 | c.1295A>T (p.His432Leu) c.1076A>T (p.His359Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.167341196T>A | CA366424254 | TTLL2 | c.1296T>A (p.His432Gln) c.1077T>A (p.His359Gln) | |
| 6 | g.167341196T>C | CA453305246 | TTLL2 | c.1296T>C (p.His432=) c.1077T>C (p.His359=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.167341196T>G | CA366424255 | TTLL2 | c.1296T>G (p.His432Gln) c.1077T>G (p.His359Gln) | |
| 6 | g.167341196T= | CA1680341997 | TTLL2 | c.1296T= (p.His432=) c.1077T= (p.His359=) | |
| 6 | g.167341197G>A | CA366424258 | TTLL2 | c.1297G>A (p.Gly433Arg) c.1078G>A (p.Gly360Arg) | COSMIC |
| 6 | g.167341197G>C | CA366424256 | TTLL2 | c.1297G>C (p.Gly433Arg) c.1078G>C (p.Gly360Arg) | |
| 6 | g.167341197G>T | CA366424257 | TTLL2 | c.1297G>T (p.Gly433Ter) c.1078G>T (p.Gly360Ter) | gnomAD v4 |
| 6 | g.167341198G>A | CA366424259 | TTLL2 | c.1298G>A (p.Gly433Glu) c.1079G>A (p.Gly360Glu) | COSMIC |
| 6 | g.167341198G>C | CA366424260 | TTLL2 | c.1298G>C (p.Gly433Ala) c.1079G>C (p.Gly360Ala) | |
| 6 | g.167341198G>T | CA366424261 | TTLL2 | c.1298G>T (p.Gly433Val) c.1079G>T (p.Gly360Val) | |
| 6 | g.167341199A>C | CA453305250 | TTLL2 | c.1299A>C (p.Gly433=) c.1080A>C (p.Gly360=) | |
| 6 | g.167341199A>G | CA453305251 | TTLL2 | c.1299A>G (p.Gly433=) c.1080A>G (p.Gly360=) | |
| 6 | g.167341199A>T | CA453305252 | TTLL2 | c.1299A>T (p.Gly433=) c.1080A>T (p.Gly360=) | |
| 6 | g.167341200A>C | CA366424262 | TTLL2 | c.1300A>C (p.Asn434His) c.1081A>C (p.Asn361His) | gnomAD v4 |
| 6 | g.167341200A>G | CA366424263 | TTLL2 | c.1300A>G (p.Asn434Asp) c.1081A>G (p.Asn361Asp) | |
| 6 | g.167341200A>T | CA366424264 | TTLL2 | c.1300A>T (p.Asn434Tyr) c.1081A>T (p.Asn361Tyr) | |
| 6 | g.167341201A>C | CA366424265 | TTLL2 | c.1301A>C (p.Asn434Thr) c.1082A>C (p.Asn361Thr) | |
| 6 | g.167341201A>G | CA366424266 | TTLL2 | c.1301A>G (p.Asn434Ser) c.1082A>G (p.Asn361Ser) | |
| 6 | g.167341201A>T | CA366424267 | TTLL2 | c.1301A>T (p.Asn434Ile) c.1082A>T (p.Asn361Ile) | gnomAD v4 |
| 6 | g.167341202T>A | CA366424268 | TTLL2 | c.1302T>A (p.Asn434Lys) c.1083T>A (p.Asn361Lys) | |
| 6 | g.167341202T>C | CA453305255 | TTLL2 | c.1302T>C (p.Asn434=) c.1083T>C (p.Asn361=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.167341202T>G | CA366424269 | TTLL2 | c.1302T>G (p.Asn434Lys) c.1083T>G (p.Asn361Lys) | |
| 6 | g.167341202T= | CA1680341998 | TTLL2 | c.1302T= (p.Asn434=) c.1083T= (p.Asn361=) | |
| 6 | g.167341203del | CA2681211342 | TTLL2 | c.1303del (p.Ser435ProfsTer?) c.1084del (p.Ser362ProfsTer?) | gnomAD v4 |
| 6 | g.167341203T>A | CA366424271 | TTLL2 | c.1303T>A (p.Ser435Thr) c.1084T>A (p.Ser362Thr) | |
| 6 | g.167341203T>C | CA366424272 | TTLL2 | c.1303T>C (p.Ser435Pro) c.1084T>C (p.Ser362Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.167341203T>G | CA366424270 | TTLL2 | c.1303T>G (p.Ser435Ala) c.1084T>G (p.Ser362Ala) | |
| 6 | g.167341203T= | CA1680341999 | TTLL2 | c.1303T= (p.Ser435=) c.1084T= (p.Ser362=) | |
| 6 | g.167341204C>A | CA366424273 | TTLL2 | c.1304C>A (p.Ser435Tyr) c.1085C>A (p.Ser362Tyr) | |
| 6 | g.167341204C= | CA1680342000 | TTLL2 | c.1304C= (p.Ser435=) c.1085C= (p.Ser362=) | |
| 6 | g.167341204C>G | CA366424274 | TTLL2 | c.1304C>G (p.Ser435Cys) c.1085C>G (p.Ser362Cys) | |
| 6 | g.167341204C>T | CA4097506 | TTLL2 | c.1304C>T (p.Ser435Phe) c.1085C>T (p.Ser362Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.167341205C>A | CA453305256 | TTLL2 | c.1305C>A (p.Ser435=) c.1086C>A (p.Ser362=) | |
| 6 | g.167341205C= | CA1680342001 | TTLL2 | c.1305C= (p.Ser435=) c.1086C= (p.Ser362=) | |
| 6 | g.167341205C>G | CA453305257 | TTLL2 | c.1305C>G (p.Ser435=) c.1086C>G (p.Ser362=) | |
| 6 | g.167341205C>T | CA453305259 | TTLL2 | c.1305C>T (p.Ser435=) c.1086C>T (p.Ser362=) | dbSNP gnomAD v2 gnomAD v4 |