Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
6 | g.167341206A>C | CA366424275 | TTLL2 | c.1306A>C (p.Asn436His) c.1087A>C (p.Asn363His) | |
6 | g.167341206A>G | CA366424276 | TTLL2 | c.1306A>G (p.Asn436Asp) c.1087A>G (p.Asn363Asp) | |
6 | g.167341206A>T | CA366424277 | TTLL2 | c.1306A>T (p.Asn436Tyr) c.1087A>T (p.Asn363Tyr) | |
6 | g.167341207A>C | CA366424280 | TTLL2 | c.1307A>C (p.Asn436Thr) c.1088A>C (p.Asn363Thr) | |
6 | g.167341207A>G | CA366424278 | TTLL2 | c.1307A>G (p.Asn436Ser) c.1088A>G (p.Asn363Ser) | |
6 | g.167341207A>T | CA366424279 | TTLL2 | c.1307A>T (p.Asn436Ile) c.1088A>T (p.Asn363Ile) | |
6 | g.167341208C>A | CA366424281 | TTLL2 | c.1308C>A (p.Asn436Lys) c.1089C>A (p.Asn363Lys) | |
6 | g.167341208C>G | CA366424282 | TTLL2 | c.1308C>G (p.Asn436Lys) c.1089C>G (p.Asn363Lys) | |
6 | g.167341208C>T | CA453305262 | TTLL2 | c.1308C>T (p.Asn436=) c.1089C>T (p.Asn363=) | |
6 | g.167341209A= | CA1680342002 | TTLL2 | c.1309A= (p.Ile437=) c.1090A= (p.Ile364=) | |
6 | g.167341209A>C | CA366424283 | TTLL2 | c.1309A>C (p.Ile437Leu) c.1090A>C (p.Ile364Leu) | |
6 | g.167341209A>G | CA151970242 | TTLL2 | c.1309A>G (p.Ile437Val) c.1090A>G (p.Ile364Val) | ClinVar dbSNP gnomAD v4 |
6 | g.167341209A>T | CA366424284 | TTLL2 | c.1309A>T (p.Ile437Phe) c.1090A>T (p.Ile364Phe) | |
6 | g.167341210T>A | CA366424285 | TTLL2 | c.1310T>A (p.Ile437Asn) c.1091T>A (p.Ile364Asn) | |
6 | g.167341210T>C | CA366424287 | TTLL2 | c.1310T>C (p.Ile437Thr) c.1091T>C (p.Ile364Thr) | |
6 | g.167341210T>G | CA366424286 | TTLL2 | c.1310T>G (p.Ile437Ser) c.1091T>G (p.Ile364Ser) | |
6 | g.167341211C>A | CA453305269 | TTLL2 | c.1311C>A (p.Ile437=) c.1092C>A (p.Ile364=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.167341211C= | CA1680342003 | TTLL2 | c.1311C= (p.Ile437=) c.1092C= (p.Ile364=) | |
6 | g.167341211C>G | CA366424288 | TTLL2 | c.1311C>G (p.Ile437Met) c.1092C>G (p.Ile364Met) | |
6 | g.167341211C>T | CA4097507 | TTLL2 | c.1311C>T (p.Ile437=) c.1092C>T (p.Ile364=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.167341212G>A | CA4097508 | TTLL2 | c.1312G>A (p.Asp438Asn) c.1093G>A (p.Asp365Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.167341212G>C | CA366424289 | TTLL2 | c.1312G>C (p.Asp438His) c.1093G>C (p.Asp365His) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341212G= | CA1680342004 | TTLL2 | c.1312G= (p.Asp438=) c.1093G= (p.Asp365=) | |
6 | g.167341212G>T | CA366424290 | TTLL2 | c.1312G>T (p.Asp438Tyr) c.1093G>T (p.Asp365Tyr) | |
6 | g.167341213A>C | CA366424291 | TTLL2 | c.1313A>C (p.Asp438Ala) c.1094A>C (p.Asp365Ala) | |
6 | g.167341213A>G | CA366424292 | TTLL2 | c.1313A>G (p.Asp438Gly) c.1094A>G (p.Asp365Gly) | gnomAD v4 |
6 | g.167341213A>T | CA366424293 | TTLL2 | c.1313A>T (p.Asp438Val) c.1094A>T (p.Asp365Val) | |
6 | g.167341214C>A | CA366424294 | TTLL2 | c.1314C>A (p.Asp438Glu) c.1095C>A (p.Asp365Glu) | |
6 | g.167341214C= | CA1680342005 | TTLL2 | c.1314C= (p.Asp438=) c.1095C= (p.Asp365=) | |
6 | g.167341214C>G | CA366424295 | TTLL2 | c.1314C>G (p.Asp438Glu) c.1095C>G (p.Asp365Glu) | dbSNP |
6 | g.167341214C>T | CA4097509 | TTLL2 | c.1314C>T (p.Asp438=) c.1095C>T (p.Asp365=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341214_167341215insT | CA4097510 | TTLL2 | c.1314_1315insT (p.Ala439CysfsTer5) c.1095_1096insT (p.Ala366CysfsTer5) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.167341215G>A | CA151970261 | TTLL2 | c.1315G>A (p.Ala439Thr) c.1096G>A (p.Ala366Thr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341215G>C | CA366424297 | TTLL2 | c.1315G>C (p.Ala439Pro) c.1096G>C (p.Ala366Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341215G= | CA1680342006 | TTLL2 | c.1315G= (p.Ala439=) c.1096G= (p.Ala366=) | |
6 | g.167341215G>T | CA366424296 | TTLL2 | c.1315G>T (p.Ala439Ser) c.1096G>T (p.Ala366Ser) | |
6 | g.167341216C>A | CA366424298 | TTLL2 | c.1316C>A (p.Ala439Asp) c.1097C>A (p.Ala366Asp) | dbSNP |
6 | g.167341216C= | CA1680342008 | TTLL2 | c.1316C= (p.Ala439=) c.1097C= (p.Ala366=) | |
6 | g.167341216C>G | CA151970267 | TTLL2 | c.1316C>G (p.Ala439Gly) c.1097C>G (p.Ala366Gly) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341216C>T | CA4097512 | TTLL2 | c.1316C>T (p.Ala439Val) c.1097C>T (p.Ala366Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341216_167341217delinsCT | CA1680342007 | TTLL2 | c.1316_1317delinsCT (p.Ala439=) c.1097_1098delinsCT (p.Ala366=) | |
6 | g.167341217del | CA4097511 | TTLL2 | c.1317del (p.Ala440GlnfsTer?) c.1098del (p.Ala367GlnfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.167341217T>A | CA453305281 | TTLL2 | c.1317T>A (p.Ala439=) c.1098T>A (p.Ala366=) | |
6 | g.167341217T>C | CA453305279 | TTLL2 | c.1317T>C (p.Ala439=) c.1098T>C (p.Ala366=) | gnomAD v4 |
6 | g.167341217T>G | CA453305280 | TTLL2 | c.1317T>G (p.Ala439=) c.1098T>G (p.Ala366=) | |
6 | g.167341218G>A | CA366424301 | TTLL2 | c.1318G>A (p.Ala440Thr) c.1099G>A (p.Ala367Thr) | |
6 | g.167341218G>C | CA366424299 | TTLL2 | c.1318G>C (p.Ala440Pro) c.1099G>C (p.Ala367Pro) | |
6 | g.167341218G= | CA1680342009 | TTLL2 | c.1318G= (p.Ala440=) c.1099G= (p.Ala367=) | |
6 | g.167341218G>T | CA366424300 | TTLL2 | c.1318G>T (p.Ala440Ser) c.1099G>T (p.Ala367Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341219C>A | CA366424302 | TTLL2 | c.1319C>A (p.Ala440Glu) c.1100C>A (p.Ala367Glu) | |
6 | g.167341219C>G | CA366424303 | TTLL2 | c.1319C>G (p.Ala440Gly) c.1100C>G (p.Ala367Gly) | |
6 | g.167341219C>T | CA366424304 | TTLL2 | c.1319C>T (p.Ala440Val) c.1100C>T (p.Ala367Val) | gnomAD v4 |
6 | g.167341220A>C | CA453305282 | TTLL2 | c.1320A>C (p.Ala440=) c.1101A>C (p.Ala367=) | |
6 | g.167341220A>G | CA453305283 | TTLL2 | c.1320A>G (p.Ala440=) c.1101A>G (p.Ala367=) | |
6 | g.167341220A>T | CA453305284 | TTLL2 | c.1320A>T (p.Ala440=) c.1101A>T (p.Ala367=) | |
6 | g.167341224_167341225insAAAAAA | CA2773968274 | TTLL2 | c.1324_1325insAAAAAA (p.Lys441_Ser442insLysLys) c.1105_1106insAAAAAA (p.Lys368_Ser369insLysLys) | |
6 | g.167341225_167341226insAAAAAAAAAG | CA2773968273 | TTLL2 | c.1325_1326insAAAAAAAAAG (p.Ser442ArgfsTer5) c.1106_1107insAAAAAAAAAG (p.Ser369ArgfsTer5) | |
6 | g.167341221A>C | CA366424305 | TTLL2 | c.1321A>C (p.Lys441Gln) c.1102A>C (p.Lys368Gln) | |
6 | g.167341221A>G | CA366424306 | TTLL2 | c.1321A>G (p.Lys441Glu) c.1102A>G (p.Lys368Glu) | |
6 | g.167341221A>T | CA366424307 | TTLL2 | c.1321A>T (p.Lys441Ter) c.1102A>T (p.Lys368Ter) | |
6 | g.167341222A= | CA1680342010 | TTLL2 | c.1322A= (p.Lys441=) c.1103A= (p.Lys368=) | |
6 | g.167341222A>C | CA4097513 | TTLL2 | c.1322A>C (p.Lys441Thr) c.1103A>C (p.Lys368Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341222A>G | CA366424308 | TTLL2 | c.1322A>G (p.Lys441Arg) c.1103A>G (p.Lys368Arg) | |
6 | g.167341222A>T | CA366424309 | TTLL2 | c.1322A>T (p.Lys441Ile) c.1103A>T (p.Lys368Ile) | |
6 | g.167341223A>C | CA366424310 | TTLL2 | c.1323A>C (p.Lys441Asn) c.1104A>C (p.Lys368Asn) | gnomAD v4 |
6 | g.167341223A>G | CA453305285 | TTLL2 | c.1323A>G (p.Lys441=) c.1104A>G (p.Lys368=) | |
6 | g.167341223A>T | CA366424311 | TTLL2 | c.1323A>T (p.Lys441Asn) c.1104A>T (p.Lys368Asn) | |
6 | g.167341224A= | CA1680342011 | TTLL2 | c.1324A= (p.Ser442=) c.1105A= (p.Ser369=) | |
6 | g.167341224A>C | CA366424312 | TTLL2 | c.1324A>C (p.Ser442Arg) c.1105A>C (p.Ser369Arg) | |
6 | g.167341224A>G | CA366424314 | TTLL2 | c.1324A>G (p.Ser442Gly) c.1105A>G (p.Ser369Gly) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341224A>T | CA366424313 | TTLL2 | c.1324A>T (p.Ser442Cys) c.1105A>T (p.Ser369Cys) | |
6 | g.167341225G>A | CA366424315 | TTLL2 | c.1325G>A (p.Ser442Asn) c.1106G>A (p.Ser369Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.167341225G>C | CA366424316 | TTLL2 | c.1325G>C (p.Ser442Thr) c.1106G>C (p.Ser369Thr) | |
6 | g.167341225G= | CA1680342012 | TTLL2 | c.1325G= (p.Ser442=) c.1106G= (p.Ser369=) | |
6 | g.167341225G>T | CA366424317 | TTLL2 | c.1325G>T (p.Ser442Ile) c.1106G>T (p.Ser369Ile) | |
6 | g.167341226T>A | CA366424318 | TTLL2 | c.1326T>A (p.Ser442Arg) c.1107T>A (p.Ser369Arg) | |
6 | g.167341226T>C | CA453305288 | TTLL2 | c.1326T>C (p.Ser442=) c.1107T>C (p.Ser369=) | |
6 | g.167341226T>G | CA366424319 | TTLL2 | c.1326T>G (p.Ser442Arg) c.1107T>G (p.Ser369Arg) | |
6 | g.167341227del | CA2578797063 | TTLL2 | c.1327del (p.Asp443ThrfsTer?) c.1108del (p.Asp370ThrfsTer?) | gnomAD v4 |
6 | g.167341227G>A | CA366424320 | TTLL2 | c.1327G>A (p.Asp443Asn) c.1108G>A (p.Asp370Asn) | |
6 | g.167341227G>C | CA4097514 | TTLL2 | c.1327G>C (p.Asp443His) c.1108G>C (p.Asp370His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.167341227G= | CA1680342013 | TTLL2 | c.1327G= (p.Asp443=) c.1108G= (p.Asp370=) | |
6 | g.167341227G>T | CA366424321 | TTLL2 | c.1327G>T (p.Asp443Tyr) c.1108G>T (p.Asp370Tyr) | |
6 | g.167341228A>C | CA366424322 | TTLL2 | c.1328A>C (p.Asp443Ala) c.1109A>C (p.Asp370Ala) | |
6 | g.167341228A>G | CA366424323 | TTLL2 | c.1328A>G (p.Asp443Gly) c.1109A>G (p.Asp370Gly) | |
6 | g.167341228A>T | CA366424324 | TTLL2 | c.1328A>T (p.Asp443Val) c.1109A>T (p.Asp370Val) | |
6 | g.167341229C>A | CA366424325 | TTLL2 | c.1329C>A (p.Asp443Glu) c.1110C>A (p.Asp370Glu) | |
6 | g.167341229C= | CA1680342014 | TTLL2 | c.1329C= (p.Asp443=) c.1110C= (p.Asp370=) | |
6 | g.167341229C>G | CA366424326 | TTLL2 | c.1329C>G (p.Asp443Glu) c.1110C>G (p.Asp370Glu) | |
6 | g.167341229C>T | CA453305290 | TTLL2 | c.1329C>T (p.Asp443=) c.1110C>T (p.Asp370=) | |
6 | g.167341230A= | CA1680342015 | TTLL2 | c.1330A= (p.Arg444=) c.1111A= (p.Arg371=) | |
6 | g.167341230A>C | CA453305292 | TTLL2 | c.1330A>C (p.Arg444=) c.1111A>C (p.Arg371=) | |
6 | g.167341230A>G | CA366424327 | TTLL2 | c.1330A>G (p.Arg444Gly) c.1111A>G (p.Arg371Gly) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341230A>T | CA366424328 | TTLL2 | c.1330A>T (p.Arg444Ter) c.1111A>T (p.Arg371Ter) | |
6 | g.167341230dup | CA4097515 | TTLL2 | c.1330dup (p.Arg444LysfsTer5) c.1111dup (p.Arg371LysfsTer5) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.167341231G>A | CA366424329 | TTLL2 | c.1331G>A (p.Arg444Lys) c.1112G>A (p.Arg371Lys) | |
6 | g.167341231G>C | CA366424330 | TTLL2 | c.1331G>C (p.Arg444Thr) c.1112G>C (p.Arg371Thr) | |
6 | g.167341231G>T | CA366424331 | TTLL2 | c.1331G>T (p.Arg444Ile) c.1112G>T (p.Arg371Ile) | |
6 | g.167341231_167341232delinsGA | CA1680342016 | TTLL2 | c.1331_1332delinsGA (p.Arg444=) c.1112_1113delinsGA (p.Arg371=) | |
6 | g.167341232del | CA1680342017 | TTLL2 | c.1332del (p.Gly445ValfsTer?) c.1113del (p.Gly372ValfsTer?) | dbSNP |
6 | g.167341232A>C | CA366424333 | TTLL2 | c.1332A>C (p.Arg444Ser) c.1113A>C (p.Arg371Ser) | |
6 | g.167341232A>G | CA453305296 | TTLL2 | c.1332A>G (p.Arg444=) c.1113A>G (p.Arg371=) | |
6 | g.167341232A>T | CA366424332 | TTLL2 | c.1332A>T (p.Arg444Ser) c.1113A>T (p.Arg371Ser) | |
6 | g.167341233G>A | CA4097516 | TTLL2 | c.1333G>A (p.Gly445Ser) c.1114G>A (p.Gly372Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341233G>C | CA151970298 | TTLL2 | c.1333G>C (p.Gly445Arg) c.1114G>C (p.Gly372Arg) | dbSNP |
6 | g.167341233G= | CA1680342018 | TTLL2 | c.1333G= (p.Gly445=) c.1114G= (p.Gly372=) | |
6 | g.167341233G>T | CA366424334 | TTLL2 | c.1333G>T (p.Gly445Cys) c.1114G>T (p.Gly372Cys) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.167341234G>A | CA4097517 | TTLL2 | c.1334G>A (p.Gly445Asp) c.1115G>A (p.Gly372Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.167341234G>C | CA366424335 | TTLL2 | c.1334G>C (p.Gly445Ala) c.1115G>C (p.Gly372Ala) | |
6 | g.167341234G= | CA1680342019 | TTLL2 | c.1334G= (p.Gly445=) c.1115G= (p.Gly372=) | |
6 | g.167341234G>T | CA366424336 | TTLL2 | c.1334G>T (p.Gly445Val) c.1115G>T (p.Gly372Val) | |
6 | g.167341235T>A | CA453305299 | TTLL2 | c.1335T>A (p.Gly445=) c.1116T>A (p.Gly372=) | |
6 | g.167341235T>C | CA453305300 | TTLL2 | c.1335T>C (p.Gly445=) c.1116T>C (p.Gly372=) | |
6 | g.167341235T>G | CA453305302 | TTLL2 | c.1335T>G (p.Gly445=) c.1116T>G (p.Gly372=) | dbSNP |
6 | g.167341235T= | CA1680342020 | TTLL2 | c.1335T= (p.Gly445=) c.1116T= (p.Gly372=) | |
6 | g.167341236G>A | CA366424337 | TTLL2 | c.1336G>A (p.Gly446Arg) c.1117G>A (p.Gly373Arg) | gnomAD v4 |
6 | g.167341236G>C | CA366424339 | TTLL2 | c.1336G>C (p.Gly446Arg) c.1117G>C (p.Gly373Arg) | |
6 | g.167341236G>T | CA366424338 | TTLL2 | c.1336G>T (p.Gly446Trp) c.1117G>T (p.Gly373Trp) | |
6 | g.167341237G>A | CA366424340 | TTLL2 | c.1337G>A (p.Gly446Glu) c.1118G>A (p.Gly373Glu) | |
6 | g.167341237G>C | CA366424341 | TTLL2 | c.1337G>C (p.Gly446Ala) c.1118G>C (p.Gly373Ala) | |
6 | g.167341237G>T | CA366424342 | TTLL2 | c.1337G>T (p.Gly446Val) c.1118G>T (p.Gly373Val) | |
6 | g.167341238G>A | CA4097518 | TTLL2 | c.1338G>A (p.Gly446=) c.1119G>A (p.Gly373=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.167341238G>C | CA453305305 | TTLL2 | c.1338G>C (p.Gly446=) c.1119G>C (p.Gly373=) | gnomAD v4 |
6 | g.167341238G= | CA1680342021 | TTLL2 | c.1338G= (p.Gly446=) c.1119G= (p.Gly373=) | |
6 | g.167341238G>T | CA453305304 | TTLL2 | c.1338G>T (p.Gly446=) c.1119G>T (p.Gly373=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.167341239C>A | CA366424343 | TTLL2 | c.1339C>A (p.Leu447Ile) c.1120C>A (p.Leu374Ile) | |
6 | g.167341239C>G | CA366424344 | TTLL2 | c.1339C>G (p.Leu447Val) c.1120C>G (p.Leu374Val) | |
6 | g.167341239C>T | CA366424345 | TTLL2 | c.1339C>T (p.Leu447Phe) c.1120C>T (p.Leu374Phe) | |
6 | g.167341240T>A | CA366424346 | TTLL2 | c.1340T>A (p.Leu447His) c.1121T>A (p.Leu374His) | |
6 | g.167341240T>C | CA4097519 | TTLL2 | c.1340T>C (p.Leu447Pro) c.1121T>C (p.Leu374Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.167341240T>G | CA366424347 | TTLL2 | c.1340T>G (p.Leu447Arg) c.1121T>G (p.Leu374Arg) | |
6 | g.167341240T= | CA1680342022 | TTLL2 | c.1340T= (p.Leu447=) c.1121T= (p.Leu374=) |