Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41352862_41352867delinsGCTGGC | CA2336426140 | TGFB1,TMEM91 | c.178_183delinsGCCAGC (p.Ala60=) c.-30+1660_-30+1665delinsGCTGGC (n.-30+1660_-30+1665delinsGCTGGC) n.350+1660_350+1665delinsGCTGGC | |
19 | g.41352863C>A | CA406005764 | TGFB1,TMEM91 | c.182G>T (p.Ser61Ile) c.-30+1661C>A (n.-30+1661C>A) n.350+1661C>A | gnomAD v4 |
19 | g.41352863C>G | CA406005766 | TGFB1,TMEM91 | c.182G>C (p.Ser61Thr) c.-30+1661C>G (n.-30+1661C>G) n.350+1661C>G | gnomAD v4 |
19 | g.41352863C>T | CA406005775 | TGFB1,TMEM91 | c.182G>A (p.Ser61Asn) c.-30+1661C>T (n.-30+1661C>T) n.350+1661C>T | gnomAD v4 |
19 | g.41352863_41352867del | CA507690171 | TGFB1,TMEM91 | c.178_182del (p.Ala60ProfsTer?) c.-30+1661_-30+1665del (n.-30+1661_-30+1665del) n.350+1661_350+1665del | dbSNP |
19 | g.41352864T>A | CA406005778 | TGFB1,TMEM91 | c.181A>T (p.Ser61Cys) c.-30+1662T>A (n.-30+1662T>A) n.350+1662T>A | |
19 | g.41352864T>C | CA406005780 | TGFB1,TMEM91 | c.181A>G (p.Ser61Gly) c.-30+1662T>C (n.-30+1662T>C) n.350+1662T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41352864T>G | CA308518599 | TGFB1,TMEM91 | c.181A>C (p.Ser61Arg) c.-30+1662T>G (n.-30+1662T>G) n.350+1662T>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352864T= | CA2336426141 | TGFB1,TMEM91 | c.181A= (p.Ser61=) c.-30+1662T= (n.-30+1662T=) n.350+1662T= | |
19 | g.41352864_41352868del | CA406005787 | TGFB1,TMEM91 | c.177_181del (p.Ala60ProfsTer?) c.-30+1662_-30+1666del (n.-30+1662_-30+1666del) n.350+1662_350+1666del | |
19 | g.41352865G>A | CA507690174 | TGFB1,TMEM91 | c.180C>T (p.Ala60=) c.-30+1663G>A (n.-30+1663G>A) n.350+1663G>A | gnomAD v4 |
19 | g.41352865G>C | CA507690172 | TGFB1,TMEM91 | c.180C>G (p.Ala60=) c.-30+1663G>C (n.-30+1663G>C) n.350+1663G>C | |
19 | g.41352865G>T | CA507690173 | TGFB1,TMEM91 | c.180C>A (p.Ala60=) c.-30+1663G>T (n.-30+1663G>T) n.350+1663G>T | |
19 | g.41352866G>A | CA406005791 | TGFB1,TMEM91 | c.179C>T (p.Ala60Val) c.-30+1664G>A (n.-30+1664G>A) n.350+1664G>A | gnomAD v4 |
19 | g.41352866G>C | CA406005792 | TGFB1,TMEM91 | c.179C>G (p.Ala60Gly) c.-30+1664G>C (n.-30+1664G>C) n.350+1664G>C | ClinVar |
19 | g.41352866G>T | CA406005796 | TGFB1,TMEM91 | c.179C>A (p.Ala60Asp) c.-30+1664G>T (n.-30+1664G>T) n.350+1664G>T | gnomAD v4 |
19 | g.41352867C>A | CA406005799 | TGFB1,TMEM91 | c.178G>T (p.Ala60Ser) c.-30+1665C>A (n.-30+1665C>A) n.350+1665C>A | gnomAD v4 |
19 | g.41352867C= | CA2336426142 | TGFB1,TMEM91 | c.178G= (p.Ala60=) c.-30+1665C= (n.-30+1665C=) n.350+1665C= | |
19 | g.41352867C>G | CA9460166 | TGFB1,TMEM91 | c.178G>C (p.Ala60Pro) c.-30+1665C>G (n.-30+1665C>G) n.350+1665C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352867C>T | CA406005803 | TGFB1,TMEM91 | c.178G>A (p.Ala60Thr) c.-30+1665C>T (n.-30+1665C>T) n.350+1665C>T | gnomAD v4 |
19 | g.41352868G>A | CA507690175 | TGFB1,TMEM91 | c.177C>T (p.Leu59=) c.-30+1666G>A (n.-30+1666G>A) n.350+1666G>A | gnomAD v4 |
19 | g.41352868G>C | CA507690176 | TGFB1,TMEM91 | c.177C>G (p.Leu59=) c.-30+1666G>C (n.-30+1666G>C) n.350+1666G>C | |
19 | g.41352868G>T | CA507690177 | TGFB1,TMEM91 | c.177C>A (p.Leu59=) c.-30+1666G>T (n.-30+1666G>T) n.350+1666G>T | gnomAD v4 |
19 | g.41352869A>C | CA406005806 | TGFB1,TMEM91 | c.176T>G (p.Leu59Arg) c.-30+1667A>C (n.-30+1667A>C) n.350+1667A>C | |
19 | g.41352869A>G | CA406005808 | TGFB1,TMEM91 | c.176T>C (p.Leu59Pro) c.-30+1667A>G (n.-30+1667A>G) n.350+1667A>G | |
19 | g.41352869A>T | CA406005807 | TGFB1,TMEM91 | c.176T>A (p.Leu59His) c.-30+1667A>T (n.-30+1667A>T) n.350+1667A>T | |
19 | g.41352870G>A | CA406005811 | TGFB1,TMEM91 | c.175C>T (p.Leu59Phe) c.-30+1668G>A (n.-30+1668G>A) n.350+1668G>A | gnomAD v4 |
19 | g.41352870G>C | CA406005813 | TGFB1,TMEM91 | c.175C>G (p.Leu59Val) c.-30+1668G>C (n.-30+1668G>C) n.350+1668G>C | |
19 | g.41352870G= | CA2336426143 | TGFB1,TMEM91 | c.175C= (p.Leu59=) c.-30+1668G= (n.-30+1668G=) n.350+1668G= | |
19 | g.41352870G>T | CA308518616 | TGFB1,TMEM91 | c.175C>A (p.Leu59Ile) c.-30+1668G>T (n.-30+1668G>T) n.350+1668G>T | dbSNP |
19 | g.41352871C>A | CA507690178 | TGFB1,TMEM91 | c.174G>T (p.Arg58=) c.-30+1669C>A (n.-30+1669C>A) n.350+1669C>A | |
19 | g.41352871C>G | CA507690180 | TGFB1,TMEM91 | c.174G>C (p.Arg58=) c.-30+1669C>G (n.-30+1669C>G) n.350+1669C>G | |
19 | g.41352871C>T | CA507690179 | TGFB1,TMEM91 | c.174G>A (p.Arg58=) c.-30+1669C>T (n.-30+1669C>T) n.350+1669C>T | gnomAD v4 |
19 | g.41352872C>A | CA406005815 | TGFB1,TMEM91 | c.173G>T (p.Arg58Leu) c.-30+1670C>A (n.-30+1670C>A) n.350+1670C>A | |
19 | g.41352872C>G | CA406005818 | TGFB1,TMEM91 | c.173G>C (p.Arg58Pro) c.-30+1670C>G (n.-30+1670C>G) n.350+1670C>G | |
19 | g.41352872C>T | CA406005821 | TGFB1,TMEM91 | c.173G>A (p.Arg58Gln) c.-30+1670C>T (n.-30+1670C>T) n.350+1670C>T | gnomAD v4 |
19 | g.41352873G>A | CA406005825 | TGFB1,TMEM91 | c.172C>T (p.Arg58Trp) c.-30+1671G>A (n.-30+1671G>A) n.350+1671G>A | gnomAD v4 |
19 | g.41352873G>C | CA406005827 | TGFB1,TMEM91 | c.172C>G (p.Arg58Gly) c.-30+1671G>C (n.-30+1671G>C) n.350+1671G>C | |
19 | g.41352873G>T | CA507690181 | TGFB1,TMEM91 | c.172C>A (p.Arg58=) c.-30+1671G>T (n.-30+1671G>T) n.350+1671G>T | gnomAD v4 |
19 | g.41352874C>A | CA507690182 | TGFB1,TMEM91 | c.171G>T (p.Leu57=) c.-30+1672C>A (n.-30+1672C>A) n.350+1672C>A | dbSNP |
19 | g.41352874C= | CA2336426144 | TGFB1,TMEM91 | c.171G= (p.Leu57=) c.-30+1672C= (n.-30+1672C=) n.350+1672C= | |
19 | g.41352874C>G | CA507690183 | TGFB1,TMEM91 | c.171G>C (p.Leu57=) c.-30+1672C>G (n.-30+1672C>G) n.350+1672C>G | |
19 | g.41352874C>T | CA507690184 | TGFB1,TMEM91 | c.171G>A (p.Leu57=) c.-30+1672C>T (n.-30+1672C>T) n.350+1672C>T | gnomAD v4 |
19 | g.41352875A>C | CA406005830 | TGFB1,TMEM91 | c.170T>G (p.Leu57Arg) c.-30+1673A>C (n.-30+1673A>C) n.350+1673A>C | |
19 | g.41352875A>G | CA406005833 | TGFB1,TMEM91 | c.170T>C (p.Leu57Pro) c.-30+1673A>G (n.-30+1673A>G) n.350+1673A>G | |
19 | g.41352875A>T | CA406005836 | TGFB1,TMEM91 | c.170T>A (p.Leu57Gln) c.-30+1673A>T (n.-30+1673A>T) n.350+1673A>T | |
19 | g.41352876G>A | CA507690185 | TGFB1,TMEM91 | c.169C>T (p.Leu57=) c.-30+1674G>A (n.-30+1674G>A) n.350+1674G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352876G>C | CA406005839 | TGFB1,TMEM91 | c.169C>G (p.Leu57Val) c.-30+1674G>C (n.-30+1674G>C) n.350+1674G>C | |
19 | g.41352876G= | CA2336426145 | TGFB1,TMEM91 | c.169C= (p.Leu57=) c.-30+1674G= (n.-30+1674G=) n.350+1674G= | |
19 | g.41352876G>T | CA406005843 | TGFB1,TMEM91 | c.169C>A (p.Leu57Met) c.-30+1674G>T (n.-30+1674G>T) n.350+1674G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352877C>A | CA406005846 | TGFB1,TMEM91 | c.168G>T (p.Lys56Asn) c.-30+1675C>A (n.-30+1675C>A) n.350+1675C>A | gnomAD v4 |
19 | g.41352877C>G | CA406005848 | TGFB1,TMEM91 | c.168G>C (p.Lys56Asn) c.-30+1675C>G (n.-30+1675C>G) n.350+1675C>G | |
19 | g.41352877C>T | CA507690186 | TGFB1,TMEM91 | c.168G>A (p.Lys56=) c.-30+1675C>T (n.-30+1675C>T) n.350+1675C>T | gnomAD v4 |
19 | g.41352878T>A | CA406005851 | TGFB1,TMEM91 | c.167A>T (p.Lys56Met) c.-30+1676T>A (n.-30+1676T>A) n.350+1676T>A | |
19 | g.41352878T>C | CA406005854 | TGFB1,TMEM91 | c.167A>G (p.Lys56Arg) c.-30+1676T>C (n.-30+1676T>C) n.350+1676T>C | |
19 | g.41352878T>G | CA406005857 | TGFB1,TMEM91 | c.167A>C (p.Lys56Thr) c.-30+1676T>G (n.-30+1676T>G) n.350+1676T>G | gnomAD v4 |
19 | g.41352879T>A | CA406005860 | TGFB1,TMEM91 | c.166A>T (p.Lys56Ter) c.-30+1677T>A (n.-30+1677T>A) n.350+1677T>A | |
19 | g.41352879T>C | CA406005862 | TGFB1,TMEM91 | c.166A>G (p.Lys56Glu) c.-30+1677T>C (n.-30+1677T>C) n.350+1677T>C | |
19 | g.41352879T>G | CA406005865 | TGFB1,TMEM91 | c.166A>C (p.Lys56Gln) c.-30+1677T>G (n.-30+1677T>G) n.350+1677T>G | |
19 | g.41352880G>A | CA507690189 | TGFB1,TMEM91 | c.165C>T (p.Ser55=) c.-30+1678G>A (n.-30+1678G>A) n.350+1678G>A | gnomAD v4 |
19 | g.41352880G>C | CA507690188 | TGFB1,TMEM91 | c.165C>G (p.Ser55=) c.-30+1678G>C (n.-30+1678G>C) n.350+1678G>C | gnomAD v4 |
19 | g.41352880G>T | CA507690187 | TGFB1,TMEM91 | c.165C>A (p.Ser55=) c.-30+1678G>T (n.-30+1678G>T) n.350+1678G>T | gnomAD v4 |
19 | g.41352881G>A | CA406005869 | TGFB1,TMEM91 | c.164C>T (p.Ser55Phe) c.-30+1679G>A (n.-30+1679G>A) n.350+1679G>A | |
19 | g.41352881G>C | CA406005871 | TGFB1,TMEM91 | c.164C>G (p.Ser55Cys) c.-30+1679G>C (n.-30+1679G>C) n.350+1679G>C | gnomAD v4 |
19 | g.41352881G>T | CA406005875 | TGFB1,TMEM91 | c.164C>A (p.Ser55Tyr) c.-30+1679G>T (n.-30+1679G>T) n.350+1679G>T | gnomAD v4 |
19 | g.41352882A= | CA2336426146 | TGFB1,TMEM91 | c.163T= (p.Ser55=) c.-30+1680A= (n.-30+1680A=) n.350+1680A= | |
19 | g.41352882A>C | CA406005882 | TGFB1,TMEM91 | c.163T>G (p.Ser55Ala) c.-30+1680A>C (n.-30+1680A>C) n.350+1680A>C | |
19 | g.41352882A>G | CA308518620 | TGFB1,TMEM91 | c.163T>C (p.Ser55Pro) c.-30+1680A>G (n.-30+1680A>G) n.350+1680A>G | dbSNP |
19 | g.41352882A>T | CA406005879 | TGFB1,TMEM91 | c.163T>A (p.Ser55Thr) c.-30+1680A>T (n.-30+1680A>T) n.350+1680A>T | |
19 | g.41352883C>A | CA507690190 | TGFB1,TMEM91 | c.162G>T (p.Leu54=) c.-30+1681C>A (n.-30+1681C>A) n.350+1681C>A | |
19 | g.41352883C= | CA2336426147 | TGFB1,TMEM91 | c.162G= (p.Leu54=) c.-30+1681C= (n.-30+1681C=) n.350+1681C= | |
19 | g.41352883C>G | CA507690191 | TGFB1,TMEM91 | c.162G>C (p.Leu54=) c.-30+1681C>G (n.-30+1681C>G) n.350+1681C>G | gnomAD v4 |
19 | g.41352883C>T | CA507690192 | TGFB1,TMEM91 | c.162G>A (p.Leu54=) c.-30+1681C>T (n.-30+1681C>T) n.350+1681C>T | dbSNP gnomAD v4 |
19 | g.41352884A>C | CA406005886 | TGFB1,TMEM91 | c.161T>G (p.Leu54Arg) c.-30+1682A>C (n.-30+1682A>C) n.350+1682A>C | |
19 | g.41352884A>G | CA406005888 | TGFB1,TMEM91 | c.161T>C (p.Leu54Pro) c.-30+1682A>G (n.-30+1682A>G) n.350+1682A>G | gnomAD v4 |
19 | g.41352884A>T | CA406005891 | TGFB1,TMEM91 | c.161T>A (p.Leu54Gln) c.-30+1682A>T (n.-30+1682A>T) n.350+1682A>T | |
19 | g.41352885G>A | CA507690193 | TGFB1,TMEM91 | c.160C>T (p.Leu54=) c.-30+1683G>A (n.-30+1683G>A) n.350+1683G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352885G>C | CA406005895 | TGFB1,TMEM91 | c.160C>G (p.Leu54Val) c.-30+1683G>C (n.-30+1683G>C) n.350+1683G>C | |
19 | g.41352885G= | CA2336426148 | TGFB1,TMEM91 | c.160C= (p.Leu54=) c.-30+1683G= (n.-30+1683G=) n.350+1683G= | |
19 | g.41352885G>T | CA406005898 | TGFB1,TMEM91 | c.160C>A (p.Leu54Met) c.-30+1683G>T (n.-30+1683G>T) n.350+1683G>T | gnomAD v4 |
19 | g.41352886G>A | CA9460167 | TGFB1,TMEM91 | c.159C>T (p.Ile53=) c.-30+1684G>A (n.-30+1684G>A) n.350+1684G>A | ClinVar dbSNP ExAC gnomAD v4 |
19 | g.41352886G>C | CA406005900 | TGFB1,TMEM91 | c.159C>G (p.Ile53Met) c.-30+1684G>C (n.-30+1684G>C) n.350+1684G>C | |
19 | g.41352886G= | CA2336426149 | TGFB1,TMEM91 | c.159C= (p.Ile53=) c.-30+1684G= (n.-30+1684G=) n.350+1684G= | |
19 | g.41352886G>T | CA507690194 | TGFB1,TMEM91 | c.159C>A (p.Ile53=) c.-30+1684G>T (n.-30+1684G>T) n.350+1684G>T | gnomAD v4 |
19 | g.41352887A= | CA2336426150 | TGFB1,TMEM91 | c.158T= (p.Ile53=) c.-30+1685A= (n.-30+1685A=) n.350+1685A= | |
19 | g.41352887A>C | CA406005901 | TGFB1,TMEM91 | c.158T>G (p.Ile53Ser) c.-30+1685A>C (n.-30+1685A>C) n.350+1685A>C | gnomAD v4 |
19 | g.41352887A>G | CA9460168 | TGFB1,TMEM91 | c.158T>C (p.Ile53Thr) c.-30+1685A>G (n.-30+1685A>G) n.350+1685A>G | ClinVar dbSNP ExAC gnomAD v2 |
19 | g.41352887A>T | CA406005904 | TGFB1,TMEM91 | c.158T>A (p.Ile53Asn) c.-30+1685A>T (n.-30+1685A>T) n.350+1685A>T | |
19 | g.41352888T>A | CA406005908 | TGFB1,TMEM91 | c.157A>T (p.Ile53Phe) c.-30+1686T>A (n.-30+1686T>A) n.350+1686T>A | |
19 | g.41352888T>C | CA406005910 | TGFB1,TMEM91 | c.157A>G (p.Ile53Val) c.-30+1686T>C (n.-30+1686T>C) n.350+1686T>C | |
19 | g.41352888T>G | CA406005911 | TGFB1,TMEM91 | c.157A>C (p.Ile53Leu) c.-30+1686T>G (n.-30+1686T>G) n.350+1686T>G | |
19 | g.41352889C>A | CA406005913 | TGFB1,TMEM91 | c.156G>T (p.Gln52His) c.-30+1687C>A (n.-30+1687C>A) n.350+1687C>A | gnomAD v4 |
19 | g.41352889C>G | CA406005912 | TGFB1,TMEM91 | c.156G>C (p.Gln52His) c.-30+1687C>G (n.-30+1687C>G) n.350+1687C>G | |
19 | g.41352889C>T | CA507690195 | TGFB1,TMEM91 | c.156G>A (p.Gln52=) c.-30+1687C>T (n.-30+1687C>T) n.350+1687C>T | |
19 | g.41352890T>A | CA406005914 | TGFB1,TMEM91 | c.155A>T (p.Gln52Leu) c.-30+1688T>A (n.-30+1688T>A) n.350+1688T>A | |
19 | g.41352890T>C | CA406005921 | TGFB1,TMEM91 | c.155A>G (p.Gln52Arg) c.-30+1688T>C (n.-30+1688T>C) n.350+1688T>C | gnomAD v4 |
19 | g.41352890T>G | CA406005918 | TGFB1,TMEM91 | c.155A>C (p.Gln52Pro) c.-30+1688T>G (n.-30+1688T>G) n.350+1688T>G | |
19 | g.41352891G>A | CA406005923 | TGFB1,TMEM91 | c.154C>T (p.Gln52Ter) c.-30+1689G>A (n.-30+1689G>A) n.350+1689G>A | dbSNP gnomAD v2 |
19 | g.41352891G>C | CA406005926 | TGFB1,TMEM91 | c.154C>G (p.Gln52Glu) c.-30+1689G>C (n.-30+1689G>C) n.350+1689G>C | |
19 | g.41352891G= | CA2336426151 | TGFB1,TMEM91 | c.154C= (p.Gln52=) c.-30+1689G= (n.-30+1689G=) n.350+1689G= | |
19 | g.41352891G>T | CA406005928 | TGFB1,TMEM91 | c.154C>A (p.Gln52Lys) c.-30+1689G>T (n.-30+1689G>T) n.350+1689G>T | |
19 | g.41352892G>A | CA507690196 | TGFB1,TMEM91 | c.153C>T (p.Gly51=) c.-30+1690G>A (n.-30+1690G>A) n.350+1690G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41352892G>C | CA507690197 | TGFB1,TMEM91 | c.153C>G (p.Gly51=) c.-30+1690G>C (n.-30+1690G>C) n.350+1690G>C | |
19 | g.41352892G= | CA2336426152 | TGFB1,TMEM91 | c.153C= (p.Gly51=) c.-30+1690G= (n.-30+1690G=) n.350+1690G= | |
19 | g.41352892G>T | CA507690198 | TGFB1,TMEM91 | c.153C>A (p.Gly51=) c.-30+1690G>T (n.-30+1690G>T) n.350+1690G>T | gnomAD v4 |
19 | g.41352893C>A | CA406005929 | TGFB1,TMEM91 | c.152G>T (p.Gly51Val) c.-30+1691C>A (n.-30+1691C>A) n.350+1691C>A | gnomAD v4 |
19 | g.41352893C>G | CA406005930 | TGFB1,TMEM91 | c.152G>C (p.Gly51Ala) c.-30+1691C>G (n.-30+1691C>G) n.350+1691C>G | |
19 | g.41352893C>T | CA406005931 | TGFB1,TMEM91 | c.152G>A (p.Gly51Asp) c.-30+1691C>T (n.-30+1691C>T) n.350+1691C>T | gnomAD v4 |
19 | g.41352894C>A | CA406005934 | TGFB1,TMEM91 | c.151G>T (p.Gly51Cys) c.-30+1692C>A (n.-30+1692C>A) n.350+1692C>A | |
19 | g.41352894C>G | CA406005939 | TGFB1,TMEM91 | c.151G>C (p.Gly51Arg) c.-30+1692C>G (n.-30+1692C>G) n.350+1692C>G | ClinVar |
19 | g.41352894C>T | CA406005941 | TGFB1,TMEM91 | c.151G>A (p.Gly51Ser) c.-30+1692C>T (n.-30+1692C>T) n.350+1692C>T | |
19 | g.41352895G>A | CA507690199 | TGFB1,TMEM91 | c.150C>T (p.Arg50=) c.-30+1693G>A (n.-30+1693G>A) n.350+1693G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352895G>C | CA507690200 | TGFB1,TMEM91 | c.150C>G (p.Arg50=) c.-30+1693G>C (n.-30+1693G>C) n.350+1693G>C | |
19 | g.41352895G= | CA2336426153 | TGFB1,TMEM91 | c.150C= (p.Arg50=) c.-30+1693G= (n.-30+1693G=) n.350+1693G= | |
19 | g.41352895G>T | CA507690201 | TGFB1,TMEM91 | c.150C>A (p.Arg50=) c.-30+1693G>T (n.-30+1693G>T) n.350+1693G>T | gnomAD v4 |
19 | g.41352896C>A | CA406005945 | TGFB1,TMEM91 | c.149G>T (p.Arg50Leu) c.-30+1694C>A (n.-30+1694C>A) n.350+1694C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41352896C>G | CA406005949 | TGFB1,TMEM91 | c.149G>C (p.Arg50Pro) c.-30+1694C>G (n.-30+1694C>G) n.350+1694C>G | gnomAD v4 |
19 | g.41352896C>T | CA406005953 | TGFB1,TMEM91 | c.149G>A (p.Arg50His) c.-30+1694C>T (n.-30+1694C>T) n.350+1694C>T | gnomAD v4 |
19 | g.41352897G>A | CA406005957 | TGFB1,TMEM91 | c.148C>T (p.Arg50Cys) c.-30+1695G>A (n.-30+1695G>A) n.350+1695G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352897G>C | CA406005962 | TGFB1,TMEM91 | c.148C>G (p.Arg50Gly) c.-30+1695G>C (n.-30+1695G>C) n.350+1695G>C | |
19 | g.41352897G= | CA2336426154 | TGFB1,TMEM91 | c.148C= (p.Arg50=) c.-30+1695G= (n.-30+1695G=) n.350+1695G= | |
19 | g.41352897G>T | CA406005960 | TGFB1,TMEM91 | c.148C>A (p.Arg50Ser) c.-30+1695G>T (n.-30+1695G>T) n.350+1695G>T | gnomAD v4 |
19 | g.41352898G>A | CA507690202 | TGFB1,TMEM91 | c.147C>T (p.Ile49=) c.-30+1696G>A (n.-30+1696G>A) n.350+1696G>A | |
19 | g.41352898G>C | CA406005965 | TGFB1,TMEM91 | c.147C>G (p.Ile49Met) c.-30+1696G>C (n.-30+1696G>C) n.350+1696G>C | |
19 | g.41352898G>T | CA507690203 | TGFB1,TMEM91 | c.147C>A (p.Ile49=) c.-30+1696G>T (n.-30+1696G>T) n.350+1696G>T | gnomAD v4 |
19 | g.41352899A= | CA2336426155 | TGFB1,TMEM91 | c.146T= (p.Ile49=) c.-30+1697A= (n.-30+1697A=) n.350+1697A= | |
19 | g.41352899A>C | CA406005970 | TGFB1,TMEM91 | c.146T>G (p.Ile49Ser) c.-30+1697A>C (n.-30+1697A>C) n.350+1697A>C | ClinVar dbSNP gnomAD v4 |
19 | g.41352899A>G | CA406005973 | TGFB1,TMEM91 | c.146T>C (p.Ile49Thr) c.-30+1697A>G (n.-30+1697A>G) n.350+1697A>G | gnomAD v4 |
19 | g.41352899A>T | CA406005977 | TGFB1,TMEM91 | c.146T>A (p.Ile49Asn) c.-30+1697A>T (n.-30+1697A>T) n.350+1697A>T | |
19 | g.41352900T>A | CA406005981 | TGFB1,TMEM91 | c.145A>T (p.Ile49Phe) c.-30+1698T>A (n.-30+1698T>A) n.350+1698T>A | gnomAD v4 |
19 | g.41352900T>C | CA406005983 | TGFB1,TMEM91 | c.145A>G (p.Ile49Val) c.-30+1698T>C (n.-30+1698T>C) n.350+1698T>C | gnomAD v4 |
19 | g.41352900T>G | CA406005987 | TGFB1,TMEM91 | c.145A>C (p.Ile49Leu) c.-30+1698T>G (n.-30+1698T>G) n.350+1698T>G | |
19 | g.41352901G>A | CA507690206 | TGFB1,TMEM91 | c.144C>T (p.Ala48=) c.-30+1699G>A (n.-30+1699G>A) n.350+1699G>A | gnomAD v4 |
19 | g.41352901G>C | CA507690205 | TGFB1,TMEM91 | c.144C>G (p.Ala48=) c.-30+1699G>C (n.-30+1699G>C) n.350+1699G>C | gnomAD v4 |
19 | g.41352901G>T | CA507690204 | TGFB1,TMEM91 | c.144C>A (p.Ala48=) c.-30+1699G>T (n.-30+1699G>T) n.350+1699G>T | |
19 | g.41352902G>A | CA406005991 | TGFB1,TMEM91 | c.143C>T (p.Ala48Val) c.-30+1700G>A (n.-30+1700G>A) n.350+1700G>A | gnomAD v4 |
19 | g.41352902G>C | CA9460169 | TGFB1,TMEM91 | c.143C>G (p.Ala48Gly) c.-30+1700G>C (n.-30+1700G>C) n.350+1700G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352902G= | CA2336426156 | TGFB1,TMEM91 | c.143C= (p.Ala48=) c.-30+1700G= (n.-30+1700G=) n.350+1700G= | |
19 | g.41352902G>T | CA406005996 | TGFB1,TMEM91 | c.143C>A (p.Ala48Asp) c.-30+1700G>T (n.-30+1700G>T) n.350+1700G>T | gnomAD v4 |
19 | g.41352903C>A | CA406006002 | TGFB1,TMEM91 | c.142G>T (p.Ala48Ser) c.-30+1701C>A (n.-30+1701C>A) n.350+1701C>A | gnomAD v4 |
19 | g.41352903C>G | CA406006006 | TGFB1,TMEM91 | c.142G>C (p.Ala48Pro) c.-30+1701C>G (n.-30+1701C>G) n.350+1701C>G | |
19 | g.41352903C>T | CA406006000 | TGFB1,TMEM91 | c.142G>A (p.Ala48Thr) c.-30+1701C>T (n.-30+1701C>T) n.350+1701C>T | gnomAD v4 |
19 | g.41352904C>A | CA406006009 | TGFB1,TMEM91 | c.141G>T (p.Glu47Asp) c.-30+1702C>A (n.-30+1702C>A) n.350+1702C>A | |
19 | g.41352904C>G | CA406006013 | TGFB1,TMEM91 | c.141G>C (p.Glu47Asp) c.-30+1702C>G (n.-30+1702C>G) n.350+1702C>G | gnomAD v4 |
19 | g.41352904C>T | CA507690207 | TGFB1,TMEM91 | c.141G>A (p.Glu47=) c.-30+1702C>T (n.-30+1702C>T) n.350+1702C>T | |
19 | g.41352905T>A | CA406006018 | TGFB1,TMEM91 | c.140A>T (p.Glu47Val) c.-30+1703T>A (n.-30+1703T>A) n.350+1703T>A | gnomAD v4 |
19 | g.41352905T>C | CA308518638 | TGFB1,TMEM91 | c.140A>G (p.Glu47Gly) c.-30+1703T>C (n.-30+1703T>C) n.350+1703T>C | dbSNP |
19 | g.41352905T>G | CA406006023 | TGFB1,TMEM91 | c.140A>C (p.Glu47Ala) c.-30+1703T>G (n.-30+1703T>G) n.350+1703T>G | |
19 | g.41352905T= | CA2336426157 | TGFB1,TMEM91 | c.140A= (p.Glu47=) c.-30+1703T= (n.-30+1703T=) n.350+1703T= | |
19 | g.41352906C>A | CA406006024 | TGFB1,TMEM91 | c.139G>T (p.Glu47Ter) c.-30+1704C>A (n.-30+1704C>A) n.350+1704C>A | gnomAD v4 |
19 | g.41352906C= | CA2336426158 | TGFB1,TMEM91 | c.139G= (p.Glu47=) c.-30+1704C= (n.-30+1704C=) n.350+1704C= | |
19 | g.41352906C>G | CA406006027 | TGFB1,TMEM91 | c.139G>C (p.Glu47Gln) c.-30+1704C>G (n.-30+1704C>G) n.350+1704C>G | |
19 | g.41352906C>T | CA406006030 | TGFB1,TMEM91 | c.139G>A (p.Glu47Lys) c.-30+1704C>T (n.-30+1704C>T) n.350+1704C>T | dbSNP gnomAD v4 |
19 | g.41352907G>A | CA507690209 | TGFB1,TMEM91 | c.138C>T (p.Ile46=) c.-30+1705G>A (n.-30+1705G>A) n.350+1705G>A | gnomAD v4 |
19 | g.41352907G>C | CA406006031 | TGFB1,TMEM91 | c.138C>G (p.Ile46Met) c.-30+1705G>C (n.-30+1705G>C) n.350+1705G>C | |
19 | g.41352907G>T | CA507690210 | TGFB1,TMEM91 | c.138C>A (p.Ile46=) c.-30+1705G>T (n.-30+1705G>T) n.350+1705G>T | gnomAD v4 |
19 | g.41352908A>C | CA406006032 | TGFB1,TMEM91 | c.137T>G (p.Ile46Ser) c.-30+1706A>C (n.-30+1706A>C) n.350+1706A>C | |
19 | g.41352908A>G | CA406006033 | TGFB1,TMEM91 | c.137T>C (p.Ile46Thr) c.-30+1706A>G (n.-30+1706A>G) n.350+1706A>G | |
19 | g.41352908A>T | CA406006035 | TGFB1,TMEM91 | c.137T>A (p.Ile46Asn) c.-30+1706A>T (n.-30+1706A>T) n.350+1706A>T | |
19 | g.41352909T>A | CA406006047 | TGFB1,TMEM91 | c.136A>T (p.Ile46Phe) c.-30+1707T>A (n.-30+1707T>A) n.350+1707T>A | |
19 | g.41352909T>C | CA406006049 | TGFB1,TMEM91 | c.136A>G (p.Ile46Val) c.-30+1707T>C (n.-30+1707T>C) n.350+1707T>C | |
19 | g.41352909T>G | CA406006046 | TGFB1,TMEM91 | c.136A>C (p.Ile46Leu) c.-30+1707T>G (n.-30+1707T>G) n.350+1707T>G | |
19 | g.41352910G>A | CA507690212 | TGFB1,TMEM91 | c.135C>T (p.Arg45=) c.-30+1708G>A (n.-30+1708G>A) n.350+1708G>A | gnomAD v4 |
19 | g.41352910G>C | CA507690213 | TGFB1,TMEM91 | c.135C>G (p.Arg45=) c.-30+1708G>C (n.-30+1708G>C) n.350+1708G>C | |
19 | g.41352910G>T | CA507690214 | TGFB1,TMEM91 | c.135C>A (p.Arg45=) c.-30+1708G>T (n.-30+1708G>T) n.350+1708G>T | gnomAD v4 |
19 | g.41352911C>A | CA406006052 | TGFB1,TMEM91 | c.134G>T (p.Arg45Leu) c.-30+1709C>A (n.-30+1709C>A) n.350+1709C>A | gnomAD v4 |
19 | g.41352911C= | CA2336426159 | TGFB1,TMEM91 | c.134G= (p.Arg45=) c.-30+1709C= (n.-30+1709C=) n.350+1709C= | |
19 | g.41352911C>G | CA406006055 | TGFB1,TMEM91 | c.134G>C (p.Arg45Pro) c.-30+1709C>G (n.-30+1709C>G) n.350+1709C>G | |
19 | g.41352911C>T | CA406006057 | TGFB1,TMEM91 | c.134G>A (p.Arg45His) c.-30+1709C>T (n.-30+1709C>T) n.350+1709C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352912G>A | CA406006064 | TGFB1,TMEM91 | c.133C>T (p.Arg45Cys) c.-30+1710G>A (n.-30+1710G>A) n.350+1710G>A | ClinVar dbSNP gnomAD v4 |
19 | g.41352912G>C | CA406006066 | TGFB1,TMEM91 | c.133C>G (p.Arg45Gly) c.-30+1710G>C (n.-30+1710G>C) n.350+1710G>C | |
19 | g.41352912G= | CA2336426160 | TGFB1,TMEM91 | c.133C= (p.Arg45=) c.-30+1710G= (n.-30+1710G=) n.350+1710G= | |
19 | g.41352912G>T | CA406006070 | TGFB1,TMEM91 | c.133C>A (p.Arg45Ser) c.-30+1710G>T (n.-30+1710G>T) n.350+1710G>T | gnomAD v4 |
19 | g.41352913C>A | CA406006074 | TGFB1,TMEM91 | c.132G>T (p.Lys44Asn) c.-30+1711C>A (n.-30+1711C>A) n.350+1711C>A | gnomAD v4 |
19 | g.41352913C>G | CA406006072 | TGFB1,TMEM91 | c.132G>C (p.Lys44Asn) c.-30+1711C>G (n.-30+1711C>G) n.350+1711C>G | |
19 | g.41352913C>T | CA507690217 | TGFB1,TMEM91 | c.132G>A (p.Lys44=) c.-30+1711C>T (n.-30+1711C>T) n.350+1711C>T | gnomAD v4 |
19 | g.41352914T>A | CA406006077 | TGFB1,TMEM91 | c.131A>T (p.Lys44Met) c.-30+1712T>A (n.-30+1712T>A) n.350+1712T>A | |
19 | g.41352914T>C | CA406006080 | TGFB1,TMEM91 | c.131A>G (p.Lys44Arg) c.-30+1712T>C (n.-30+1712T>C) n.350+1712T>C | |
19 | g.41352914T>G | CA406006081 | TGFB1,TMEM91 | c.131A>C (p.Lys44Thr) c.-30+1712T>G (n.-30+1712T>G) n.350+1712T>G | |
19 | g.41352915T>A | CA406006084 | TGFB1,TMEM91 | c.130A>T (p.Lys44Ter) c.-30+1713T>A (n.-30+1713T>A) n.350+1713T>A | |
19 | g.41352915T>C | CA406006086 | TGFB1,TMEM91 | c.130A>G (p.Lys44Glu) c.-30+1713T>C (n.-30+1713T>C) n.350+1713T>C | gnomAD v4 |
19 | g.41352915T>G | CA9460170 | TGFB1,TMEM91 | c.130A>C (p.Lys44Gln) c.-30+1713T>G (n.-30+1713T>G) n.350+1713T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41352915T= | CA2336426161 | TGFB1,TMEM91 | c.130A= (p.Lys44=) c.-30+1713T= (n.-30+1713T=) n.350+1713T= | |
19 | g.41352916C>A | CA507690221 | TGFB1,TMEM91 | c.129G>T (p.Arg43=) c.-30+1714C>A (n.-30+1714C>A) n.350+1714C>A | gnomAD v4 |
19 | g.41352916C= | CA2336426162 | TGFB1,TMEM91 | c.129G= (p.Arg43=) c.-30+1714C= (n.-30+1714C=) n.350+1714C= | |
19 | g.41352916C>G | CA507690222 | TGFB1,TMEM91 | c.129G>C (p.Arg43=) c.-30+1714C>G (n.-30+1714C>G) n.350+1714C>G | gnomAD v4 |
19 | g.41352916C>T | CA507690223 | TGFB1,TMEM91 | c.129G>A (p.Arg43=) c.-30+1714C>T (n.-30+1714C>T) n.350+1714C>T | ClinVar dbSNP gnomAD v4 |
19 | g.41352917C>A | CA406006090 | TGFB1,TMEM91 | c.128G>T (p.Arg43Leu) c.-30+1715C>A (n.-30+1715C>A) n.350+1715C>A | gnomAD v4 |
19 | g.41352917C= | CA2336426163 | TGFB1,TMEM91 | c.128G= (p.Arg43=) c.-30+1715C= (n.-30+1715C=) n.350+1715C= | |
19 | g.41352917C>G | CA406006094 | TGFB1,TMEM91 | c.128G>C (p.Arg43Pro) c.-30+1715C>G (n.-30+1715C>G) n.350+1715C>G | |
19 | g.41352917C>T | CA406006092 | TGFB1,TMEM91 | c.128G>A (p.Arg43Gln) c.-30+1715C>T (n.-30+1715C>T) n.350+1715C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.41352918G>A | CA406006099 | TGFB1,TMEM91 | c.127C>T (p.Arg43Trp) c.-30+1716G>A (n.-30+1716G>A) n.350+1716G>A | gnomAD v4 |
19 | g.41352918G>C | CA406006102 | TGFB1,TMEM91 | c.127C>G (p.Arg43Gly) c.-30+1716G>C (n.-30+1716G>C) n.350+1716G>C | |
19 | g.41352918G>T | CA507690224 | TGFB1,TMEM91 | c.127C>A (p.Arg43=) c.-30+1716G>T (n.-30+1716G>T) n.350+1716G>T | gnomAD v4 |
19 | g.41352919C>A | CA406006105 | TGFB1,TMEM91 | c.126G>T (p.Lys42Asn) c.-30+1717C>A (n.-30+1717C>A) n.350+1717C>A | gnomAD v4 |
19 | g.41352919C>G | CA406006109 | TGFB1,TMEM91 | c.126G>C (p.Lys42Asn) c.-30+1717C>G (n.-30+1717C>G) n.350+1717C>G | |
19 | g.41352919C>T | CA507690225 | TGFB1,TMEM91 | c.126G>A (p.Lys42=) c.-30+1717C>T (n.-30+1717C>T) n.350+1717C>T | gnomAD v4 |
19 | g.41352920T>A | CA406006113 | TGFB1,TMEM91 | c.125A>T (p.Lys42Met) c.-30+1718T>A (n.-30+1718T>A) n.350+1718T>A | gnomAD v4 |
19 | g.41352920T>C | CA406006115 | TGFB1,TMEM91 | c.125A>G (p.Lys42Arg) c.-30+1718T>C (n.-30+1718T>C) n.350+1718T>C | gnomAD v4 |
19 | g.41352920T>G | CA406006117 | TGFB1,TMEM91 | c.125A>C (p.Lys42Thr) c.-30+1718T>G (n.-30+1718T>G) n.350+1718T>G | |
19 | g.41352921T>A | CA406006120 | TGFB1,TMEM91 | c.124A>T (p.Lys42Ter) c.-30+1719T>A (n.-30+1719T>A) n.350+1719T>A | |
19 | g.41352921T>C | CA406006122 | TGFB1,TMEM91 | c.124A>G (p.Lys42Glu) c.-30+1719T>C (n.-30+1719T>C) n.350+1719T>C | |
19 | g.41352921T>G | CA406006126 | TGFB1,TMEM91 | c.124A>C (p.Lys42Gln) c.-30+1719T>G (n.-30+1719T>G) n.350+1719T>G | |
19 | g.41352922C>A | CA507690229 | TGFB1,TMEM91 | c.123G>T (p.Val41=) c.-30+1720C>A (n.-30+1720C>A) n.350+1720C>A | gnomAD v4 |
19 | g.41352922C>G | CA507690231 | TGFB1,TMEM91 | c.123G>C (p.Val41=) c.-30+1720C>G (n.-30+1720C>G) n.350+1720C>G | |
19 | g.41352922C>T | CA507690230 | TGFB1,TMEM91 | c.123G>A (p.Val41=) c.-30+1720C>T (n.-30+1720C>T) n.350+1720C>T | gnomAD v4 |
19 | g.41352923A= | CA2336426164 | TGFB1,TMEM91 | c.122T= (p.Val41=) c.-30+1721A= (n.-30+1721A=) n.350+1721A= | |
19 | g.41352923A>C | CA406006131 | TGFB1,TMEM91 | c.122T>G (p.Val41Gly) c.-30+1721A>C (n.-30+1721A>C) n.350+1721A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352923A>G | CA308518648 | TGFB1,TMEM91 | c.122T>C (p.Val41Ala) c.-30+1721A>G (n.-30+1721A>G) n.350+1721A>G | dbSNP gnomAD v4 |
19 | g.41352923A>T | CA406006137 | TGFB1,TMEM91 | c.122T>A (p.Val41Glu) c.-30+1721A>T (n.-30+1721A>T) n.350+1721A>T | |
19 | g.41352924C>A | CA406006144 | TGFB1,TMEM91 | c.121G>T (p.Val41Leu) c.-30+1722C>A (n.-30+1722C>A) n.350+1722C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352924C= | CA2336426165 | TGFB1,TMEM91 | c.121G= (p.Val41=) c.-30+1722C= (n.-30+1722C=) n.350+1722C= | |
19 | g.41352924C>G | CA406006147 | TGFB1,TMEM91 | c.121G>C (p.Val41Leu) c.-30+1722C>G (n.-30+1722C>G) n.350+1722C>G | gnomAD v4 |
19 | g.41352924C>T | CA406006149 | TGFB1,TMEM91 | c.121G>A (p.Val41Met) c.-30+1722C>T (n.-30+1722C>T) n.350+1722C>T | dbSNP gnomAD v4 |
19 | g.41352925C>A | CA507690233 | TGFB1,TMEM91 | c.120G>T (p.Leu40=) c.-30+1723C>A (n.-30+1723C>A) n.350+1723C>A | gnomAD v4 |
19 | g.41352925C= | CA2336426166 | TGFB1,TMEM91 | c.120G= (p.Leu40=) c.-30+1723C= (n.-30+1723C=) n.350+1723C= | |
19 | g.41352925C>G | CA507690234 | TGFB1,TMEM91 | c.120G>C (p.Leu40=) c.-30+1723C>G (n.-30+1723C>G) n.350+1723C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352925C>T | CA507690235 | TGFB1,TMEM91 | c.120G>A (p.Leu40=) c.-30+1723C>T (n.-30+1723C>T) n.350+1723C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352926A>C | CA406006153 | TGFB1,TMEM91 | c.119T>G (p.Leu40Arg) c.-30+1724A>C (n.-30+1724A>C) n.350+1724A>C | gnomAD v4 |
19 | g.41352926A>G | CA406006158 | TGFB1,TMEM91 | c.119T>C (p.Leu40Pro) c.-30+1724A>G (n.-30+1724A>G) n.350+1724A>G | gnomAD v4 |
19 | g.41352926A>T | CA406006156 | TGFB1,TMEM91 | c.119T>A (p.Leu40Gln) c.-30+1724A>T (n.-30+1724A>T) n.350+1724A>T | gnomAD v4 |
19 | g.41352927G>A | CA507690236 | TGFB1,TMEM91 | c.118C>T (p.Leu40=) c.-30+1725G>A (n.-30+1725G>A) n.350+1725G>A | gnomAD v4 |
19 | g.41352927G>C | CA406006160 | TGFB1,TMEM91 | c.118C>G (p.Leu40Val) c.-30+1725G>C (n.-30+1725G>C) n.350+1725G>C | gnomAD v4 |
19 | g.41352927G>T | CA406006163 | TGFB1,TMEM91 | c.118C>A (p.Leu40Met) c.-30+1725G>T (n.-30+1725G>T) n.350+1725G>T | gnomAD v4 |
19 | g.41352928C>A | CA406006165 | TGFB1,TMEM91 | c.117G>T (p.Glu39Asp) c.-30+1726C>A (n.-30+1726C>A) n.350+1726C>A | gnomAD v4 |
19 | g.41352928C= | CA2336426167 | TGFB1,TMEM91 | c.117G= (p.Glu39=) c.-30+1726C= (n.-30+1726C=) n.350+1726C= | |
19 | g.41352928C>G | CA406006167 | TGFB1,TMEM91 | c.117G>C (p.Glu39Asp) c.-30+1726C>G (n.-30+1726C>G) n.350+1726C>G | |
19 | g.41352928C>T | CA507690240 | TGFB1,TMEM91 | c.117G>A (p.Glu39=) c.-30+1726C>T (n.-30+1726C>T) n.350+1726C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352929T>A | CA406006170 | TGFB1,TMEM91 | c.116A>T (p.Glu39Val) c.-30+1727T>A (n.-30+1727T>A) n.350+1727T>A | |
19 | g.41352929T>C | CA406006171 | TGFB1,TMEM91 | c.116A>G (p.Glu39Gly) c.-30+1727T>C (n.-30+1727T>C) n.350+1727T>C | gnomAD v4 |
19 | g.41352929T>G | CA406006172 | TGFB1,TMEM91 | c.116A>C (p.Glu39Ala) c.-30+1727T>G (n.-30+1727T>G) n.350+1727T>G | ClinVar |
19 | g.41352930C>A | CA406006174 | TGFB1,TMEM91 | c.115G>T (p.Glu39Ter) c.-30+1728C>A (n.-30+1728C>A) n.350+1728C>A | gnomAD v4 |
19 | g.41352930C>G | CA406006176 | TGFB1,TMEM91 | c.115G>C (p.Glu39Gln) c.-30+1728C>G (n.-30+1728C>G) n.350+1728C>G | |
19 | g.41352930C>T | CA406006178 | TGFB1,TMEM91 | c.115G>A (p.Glu39Lys) c.-30+1728C>T (n.-30+1728C>T) n.350+1728C>T | gnomAD v4 |
19 | g.41352931C>A | CA406006180 | TGFB1,TMEM91 | c.114G>T (p.Met38Ile) c.-30+1729C>A (n.-30+1729C>A) n.350+1729C>A | |
19 | g.41352931C= | CA2336426168 | TGFB1,TMEM91 | c.114G= (p.Met38=) c.-30+1729C= (n.-30+1729C=) n.350+1729C= | |
19 | g.41352931C>G | CA406006181 | TGFB1,TMEM91 | c.114G>C (p.Met38Ile) c.-30+1729C>G (n.-30+1729C>G) n.350+1729C>G | |
19 | g.41352931C>T | CA406006179 | TGFB1,TMEM91 | c.114G>A (p.Met38Ile) c.-30+1729C>T (n.-30+1729C>T) n.350+1729C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352932A= | CA2336426169 | TGFB1,TMEM91 | c.113T= (p.Met38=) c.-30+1730A= (n.-30+1730A=) n.350+1730A= | |
19 | g.41352932A>C | CA406006183 | TGFB1,TMEM91 | c.113T>G (p.Met38Arg) c.-30+1730A>C (n.-30+1730A>C) n.350+1730A>C | gnomAD v4 |
19 | g.41352932A>G | CA308518654 | TGFB1,TMEM91 | c.113T>C (p.Met38Thr) c.-30+1730A>G (n.-30+1730A>G) n.350+1730A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352932A>T | CA406006185 | TGFB1,TMEM91 | c.113T>A (p.Met38Lys) c.-30+1730A>T (n.-30+1730A>T) n.350+1730A>T | gnomAD v4 |
19 | g.41352933T>A | CA308518666 | TGFB1,TMEM91 | c.112A>T (p.Met38Leu) c.-30+1731T>A (n.-30+1731T>A) n.350+1731T>A | dbSNP gnomAD v4 |
19 | g.41352933T>C | CA9460171 | TGFB1,TMEM91 | c.112A>G (p.Met38Val) c.-30+1731T>C (n.-30+1731T>C) n.350+1731T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41352933T>G | CA406006186 | TGFB1,TMEM91 | c.112A>C (p.Met38Leu) c.-30+1731T>G (n.-30+1731T>G) n.350+1731T>G | gnomAD v4 |
19 | g.41352933T= | CA2336426170 | TGFB1,TMEM91 | c.112A= (p.Met38=) c.-30+1731T= (n.-30+1731T=) n.350+1731T= | |
19 | g.41352934G>A | CA507690244 | TGFB1,TMEM91 | c.111C>T (p.Asp37=) c.-30+1732G>A (n.-30+1732G>A) n.350+1732G>A | gnomAD v4 |
19 | g.41352934G>C | CA406006187 | TGFB1,TMEM91 | c.111C>G (p.Asp37Glu) c.-30+1732G>C (n.-30+1732G>C) n.350+1732G>C | |
19 | g.41352934G>T | CA406006188 | TGFB1,TMEM91 | c.111C>A (p.Asp37Glu) c.-30+1732G>T (n.-30+1732G>T) n.350+1732G>T | gnomAD v4 |
19 | g.41352935T>A | CA406006189 | TGFB1,TMEM91 | c.110A>T (p.Asp37Val) c.-30+1733T>A (n.-30+1733T>A) n.350+1733T>A | |
19 | g.41352935T>C | CA406006190 | TGFB1,TMEM91 | c.110A>G (p.Asp37Gly) c.-30+1733T>C (n.-30+1733T>C) n.350+1733T>C | gnomAD v4 |
19 | g.41352935T>G | CA406006191 | TGFB1,TMEM91 | c.110A>C (p.Asp37Ala) c.-30+1733T>G (n.-30+1733T>G) n.350+1733T>G | |
19 | g.41352936C>A | CA406006193 | TGFB1,TMEM91 | c.109G>T (p.Asp37Tyr) c.-30+1734C>A (n.-30+1734C>A) n.350+1734C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41352936C= | CA2336426171 | TGFB1,TMEM91 | c.109G= (p.Asp37=) c.-30+1734C= (n.-30+1734C=) n.350+1734C= | |
19 | g.41352936C>G | CA406006194 | TGFB1,TMEM91 | c.109G>C (p.Asp37His) c.-30+1734C>G (n.-30+1734C>G) n.350+1734C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352936C>T | CA406006195 | TGFB1,TMEM91 | c.109G>A (p.Asp37Asn) c.-30+1734C>T (n.-30+1734C>T) n.350+1734C>T | gnomAD v4 |
19 | g.41352937G>A | CA507690247 | TGFB1,TMEM91 | c.108C>T (p.Ile36=) c.-30+1735G>A (n.-30+1735G>A) n.350+1735G>A | dbSNP gnomAD v4 |
19 | g.41352937G>C | CA9460172 | TGFB1,TMEM91 | c.108C>G (p.Ile36Met) c.-30+1735G>C (n.-30+1735G>C) n.350+1735G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352937G= | CA2336426172 | TGFB1,TMEM91 | c.108C= (p.Ile36=) c.-30+1735G= (n.-30+1735G=) n.350+1735G= | |
19 | g.41352937G>T | CA507690248 | TGFB1,TMEM91 | c.108C>A (p.Ile36=) c.-30+1735G>T (n.-30+1735G>T) n.350+1735G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352938A>C | CA406006196 | TGFB1,TMEM91 | c.107T>G (p.Ile36Ser) c.-30+1736A>C (n.-30+1736A>C) n.350+1736A>C | |
19 | g.41352938A>G | CA406006197 | TGFB1,TMEM91 | c.107T>C (p.Ile36Thr) c.-30+1736A>G (n.-30+1736A>G) n.350+1736A>G | gnomAD v4 |
19 | g.41352938A>T | CA406006199 | TGFB1,TMEM91 | c.107T>A (p.Ile36Asn) c.-30+1736A>T (n.-30+1736A>T) n.350+1736A>T | gnomAD v4 |
19 | g.41352939T>A | CA406006201 | TGFB1,TMEM91 | c.106A>T (p.Ile36Phe) c.-30+1737T>A (n.-30+1737T>A) n.350+1737T>A | |
19 | g.41352939T>C | CA406006203 | TGFB1,TMEM91 | c.106A>G (p.Ile36Val) c.-30+1737T>C (n.-30+1737T>C) n.350+1737T>C | |
19 | g.41352939T>G | CA406006204 | TGFB1,TMEM91 | c.106A>C (p.Ile36Leu) c.-30+1737T>G (n.-30+1737T>G) n.350+1737T>G | |
19 | g.41352940A>C | CA507690251 | TGFB1,TMEM91 | c.105T>G (p.Thr35=) c.-30+1738A>C (n.-30+1738A>C) n.350+1738A>C | |
19 | g.41352940A>G | CA507690252 | TGFB1,TMEM91 | c.105T>C (p.Thr35=) c.-30+1738A>G (n.-30+1738A>G) n.350+1738A>G | gnomAD v4 |
19 | g.41352940A>T | CA507690253 | TGFB1,TMEM91 | c.105T>A (p.Thr35=) c.-30+1738A>T (n.-30+1738A>T) n.350+1738A>T | |
19 | g.41352941G>A | CA406006205 | TGFB1,TMEM91 | c.104C>T (p.Thr35Ile) c.-30+1739G>A (n.-30+1739G>A) n.350+1739G>A | gnomAD v4 |
19 | g.41352941G>C | CA406006206 | TGFB1,TMEM91 | c.104C>G (p.Thr35Ser) c.-30+1739G>C (n.-30+1739G>C) n.350+1739G>C | |
19 | g.41352941G>T | CA406006207 | TGFB1,TMEM91 | c.104C>A (p.Thr35Asn) c.-30+1739G>T (n.-30+1739G>T) n.350+1739G>T | gnomAD v4 |
19 | g.41352942T>A | CA406006208 | TGFB1,TMEM91 | c.103A>T (p.Thr35Ser) c.-30+1740T>A (n.-30+1740T>A) n.350+1740T>A | |
19 | g.41352942T>C | CA406006210 | TGFB1,TMEM91 | c.103A>G (p.Thr35Ala) c.-30+1740T>C (n.-30+1740T>C) n.350+1740T>C | gnomAD v4 |
19 | g.41352942T>G | CA406006211 | TGFB1,TMEM91 | c.103A>C (p.Thr35Pro) c.-30+1740T>G (n.-30+1740T>G) n.350+1740T>G | |
19 | g.41352943C>A | CA406006213 | TGFB1,TMEM91 | c.102G>T (p.Lys34Asn) c.-30+1741C>A (n.-30+1741C>A) n.350+1741C>A | gnomAD v4 |
19 | g.41352943C>G | CA406006214 | TGFB1,TMEM91 | c.102G>C (p.Lys34Asn) c.-30+1741C>G (n.-30+1741C>G) n.350+1741C>G | gnomAD v4 |
19 | g.41352943C>T | CA507690258 | TGFB1,TMEM91 | c.102G>A (p.Lys34=) c.-30+1741C>T (n.-30+1741C>T) n.350+1741C>T | gnomAD v4 |
19 | g.41352944T>A | CA406006218 | TGFB1,TMEM91 | c.101A>T (p.Lys34Met) c.-30+1742T>A (n.-30+1742T>A) n.350+1742T>A | gnomAD v4 |
19 | g.41352944T>C | CA406006217 | TGFB1,TMEM91 | c.101A>G (p.Lys34Arg) c.-30+1742T>C (n.-30+1742T>C) n.350+1742T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352944T>G | CA406006216 | TGFB1,TMEM91 | c.101A>C (p.Lys34Thr) c.-30+1742T>G (n.-30+1742T>G) n.350+1742T>G | |
19 | g.41352944T= | CA2336426173 | TGFB1,TMEM91 | c.101A= (p.Lys34=) c.-30+1742T= (n.-30+1742T=) n.350+1742T= | |
19 | g.41352945T>A | CA406006221 | TGFB1,TMEM91 | c.100A>T (p.Lys34Ter) c.-30+1743T>A (n.-30+1743T>A) n.350+1743T>A | |
19 | g.41352945T>C | CA406006219 | TGFB1,TMEM91 | c.100A>G (p.Lys34Glu) c.-30+1743T>C (n.-30+1743T>C) n.350+1743T>C | gnomAD v4 |
19 | g.41352945T>G | CA406006222 | TGFB1,TMEM91 | c.100A>C (p.Lys34Gln) c.-30+1743T>G (n.-30+1743T>G) n.350+1743T>G | |
19 | g.41352946G>A | CA507690266 | TGFB1,TMEM91 | c.99C>T (p.Cys33=) c.-30+1744G>A (n.-30+1744G>A) n.350+1744G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41352946G>C | CA406006223 | TGFB1,TMEM91 | c.99C>G (p.Cys33Trp) c.-30+1744G>C (n.-30+1744G>C) n.350+1744G>C | gnomAD v4 |
19 | g.41352946G= | CA2336426174 | TGFB1,TMEM91 | c.99C= (p.Cys33=) c.-30+1744G= (n.-30+1744G=) n.350+1744G= | |
19 | g.41352946G>T | CA406006225 | TGFB1,TMEM91 | c.99C>A (p.Cys33Ter) c.-30+1744G>T (n.-30+1744G>T) n.350+1744G>T | gnomAD v4 |
19 | g.41352947C>A | CA406006226 | TGFB1,TMEM91 | c.98G>T (p.Cys33Phe) c.-30+1745C>A (n.-30+1745C>A) n.350+1745C>A | gnomAD v4 |
19 | g.41352947C>G | CA406006228 | TGFB1,TMEM91 | c.98G>C (p.Cys33Ser) c.-30+1745C>G (n.-30+1745C>G) n.350+1745C>G | |
19 | g.41352947C>T | CA406006229 | TGFB1,TMEM91 | c.98G>A (p.Cys33Tyr) c.-30+1745C>T (n.-30+1745C>T) n.350+1745C>T | gnomAD v4 |
19 | g.41352948del | CA2585297128 | TGFB1,TMEM91 | c.97del (p.Cys33AlafsTer9) c.-30+1746del (n.-30+1746del) n.350+1746del | gnomAD v4 |
19 | g.41352948A>C | CA406006230 | TGFB1,TMEM91 | c.97T>G (p.Cys33Gly) c.-30+1746A>C (n.-30+1746A>C) n.350+1746A>C | |
19 | g.41352948A>G | CA406006231 | TGFB1,TMEM91 | c.97T>C (p.Cys33Arg) c.-30+1746A>G (n.-30+1746A>G) n.350+1746A>G | gnomAD v4 |
19 | g.41352948A>T | CA406006233 | TGFB1,TMEM91 | c.97T>A (p.Cys33Ser) c.-30+1746A>T (n.-30+1746A>T) n.350+1746A>T | gnomAD v4 |
19 | g.41352949G>A | CA507690269 | TGFB1,TMEM91 | c.96C>T (p.Thr32=) c.-30+1747G>A (n.-30+1747G>A) n.350+1747G>A | |
19 | g.41352949G>C | CA507690272 | TGFB1,TMEM91 | c.96C>G (p.Thr32=) c.-30+1747G>C (n.-30+1747G>C) n.350+1747G>C | |
19 | g.41352949G= | CA2336426175 | TGFB1,TMEM91 | c.96C= (p.Thr32=) c.-30+1747G= (n.-30+1747G=) n.350+1747G= | |
19 | g.41352949G>T | CA308518676 | TGFB1,TMEM91 | c.96C>A (p.Thr32=) c.-30+1747G>T (n.-30+1747G>T) n.350+1747G>T | dbSNP gnomAD v4 |
19 | g.41352950G>A | CA406006236 | TGFB1,TMEM91 | c.95C>T (p.Thr32Ile) c.-30+1748G>A (n.-30+1748G>A) n.350+1748G>A | gnomAD v4 |
19 | g.41352950G>C | CA406006237 | TGFB1,TMEM91 | c.95C>G (p.Thr32Ser) c.-30+1748G>C (n.-30+1748G>C) n.350+1748G>C | |
19 | g.41352950G>T | CA406006240 | TGFB1,TMEM91 | c.95C>A (p.Thr32Asn) c.-30+1748G>T (n.-30+1748G>T) n.350+1748G>T | gnomAD v4 |
19 | g.41352951T>A | CA406006247 | TGFB1,TMEM91 | c.94A>T (p.Thr32Ser) c.-30+1749T>A (n.-30+1749T>A) n.350+1749T>A | gnomAD v4 |
19 | g.41352951T>C | CA406006245 | TGFB1,TMEM91 | c.94A>G (p.Thr32Ala) c.-30+1749T>C (n.-30+1749T>C) n.350+1749T>C | gnomAD v4 |
19 | g.41352951T>G | CA406006246 | TGFB1,TMEM91 | c.94A>C (p.Thr32Pro) c.-30+1749T>G (n.-30+1749T>G) n.350+1749T>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41352952G>A | CA507690275 | TGFB1,TMEM91 | c.93C>T (p.Ser31=) c.-30+1750G>A (n.-30+1750G>A) n.350+1750G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41352952G>C | CA507690276 | TGFB1,TMEM91 | c.93C>G (p.Ser31=) c.-30+1750G>C (n.-30+1750G>C) n.350+1750G>C | |
19 | g.41352952G= | CA2336426176 | TGFB1,TMEM91 | c.93C= (p.Ser31=) c.-30+1750G= (n.-30+1750G=) n.350+1750G= | |
19 | g.41352952G>T | CA507690277 | TGFB1,TMEM91 | c.93C>A (p.Ser31=) c.-30+1750G>T (n.-30+1750G>T) n.350+1750G>T | gnomAD v4 |
19 | g.41352953G>A | CA406006250 | TGFB1,TMEM91 | c.92C>T (p.Ser31Phe) c.-30+1751G>A (n.-30+1751G>A) n.350+1751G>A | gnomAD v4 |
19 | g.41352953G>C | CA406006251 | TGFB1,TMEM91 | c.92C>G (p.Ser31Cys) c.-30+1751G>C (n.-30+1751G>C) n.350+1751G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352953G= | CA2336426177 | TGFB1,TMEM91 | c.92C= (p.Ser31=) c.-30+1751G= (n.-30+1751G=) n.350+1751G= | |
19 | g.41352953G>T | CA406006254 | TGFB1,TMEM91 | c.92C>A (p.Ser31Tyr) c.-30+1751G>T (n.-30+1751G>T) n.350+1751G>T | gnomAD v4 |
19 | g.41352954A= | CA2336426178 | TGFB1,TMEM91 | c.91T= (p.Ser31=) c.-30+1752A= (n.-30+1752A=) n.350+1752A= | |
19 | g.41352954A>C | CA308518678 | TGFB1,TMEM91 | c.91T>G (p.Ser31Ala) c.-30+1752A>C (n.-30+1752A>C) n.350+1752A>C | ClinVar dbSNP gnomAD v4 |
19 | g.41352954A>G | CA406006260 | TGFB1,TMEM91 | c.91T>C (p.Ser31Pro) c.-30+1752A>G (n.-30+1752A>G) n.350+1752A>G | dbSNP gnomAD v4 |
19 | g.41352954A>T | CA406006261 | TGFB1,TMEM91 | c.91T>A (p.Ser31Thr) c.-30+1752A>T (n.-30+1752A>T) n.350+1752A>T | |
19 | g.41352955T>A | CA507690283 | TGFB1,TMEM91 | c.90A>T (p.Leu30=) c.-30+1753T>A (n.-30+1753T>A) n.350+1753T>A | |
19 | g.41352955T>C | CA507690284 | TGFB1,TMEM91 | c.90A>G (p.Leu30=) c.-30+1753T>C (n.-30+1753T>C) n.350+1753T>C | ClinVar dbSNP gnomAD v4 |
19 | g.41352955T>G | CA507690286 | TGFB1,TMEM91 | c.90A>C (p.Leu30=) c.-30+1753T>G (n.-30+1753T>G) n.350+1753T>G | |
19 | g.41352955T= | CA2336426179 | TGFB1,TMEM91 | c.90A= (p.Leu30=) c.-30+1753T= (n.-30+1753T=) n.350+1753T= | |
19 | g.41352956A>C | CA406006264 | TGFB1,TMEM91 | c.89T>G (p.Leu30Arg) c.-30+1754A>C (n.-30+1754A>C) n.350+1754A>C | |
19 | g.41352956A>G | CA406006265 | TGFB1,TMEM91 | c.89T>C (p.Leu30Pro) c.-30+1754A>G (n.-30+1754A>G) n.350+1754A>G | |
19 | g.41352956A>T | CA406006267 | TGFB1,TMEM91 | c.89T>A (p.Leu30Gln) c.-30+1754A>T (n.-30+1754A>T) n.350+1754A>T | |
19 | g.41352957G>A | CA507690295 | TGFB1,TMEM91 | c.88C>T (p.Leu30=) c.-30+1755G>A (n.-30+1755G>A) n.350+1755G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352957G>C | CA406006269 | TGFB1,TMEM91 | c.88C>G (p.Leu30Val) c.-30+1755G>C (n.-30+1755G>C) n.350+1755G>C | |
19 | g.41352957G= | CA2336426180 | TGFB1,TMEM91 | c.88C= (p.Leu30=) c.-30+1755G= (n.-30+1755G=) n.350+1755G= | |
19 | g.41352957G>T | CA406006271 | TGFB1,TMEM91 | c.88C>A (p.Leu30Ile) c.-30+1755G>T (n.-30+1755G>T) n.350+1755G>T | gnomAD v4 |
19 | g.41352958T>A | CA507690296 | TGFB1,TMEM91 | c.87A>T (p.Gly29=) c.-30+1756T>A (n.-30+1756T>A) n.350+1756T>A | dbSNP gnomAD v4 |
19 | g.41352958T>C | CA507690297 | TGFB1,TMEM91 | c.87A>G (p.Gly29=) c.-30+1756T>C (n.-30+1756T>C) n.350+1756T>C | gnomAD v4 |
19 | g.41352958T>G | CA507690299 | TGFB1,TMEM91 | c.87A>C (p.Gly29=) c.-30+1756T>G (n.-30+1756T>G) n.350+1756T>G | |
19 | g.41352958T= | CA2336426181 | TGFB1,TMEM91 | c.87A= (p.Gly29=) c.-30+1756T= (n.-30+1756T=) n.350+1756T= | |
19 | g.41352959C>A | CA406006274 | TGFB1,TMEM91 | c.86G>T (p.Gly29Val) c.-30+1757C>A (n.-30+1757C>A) n.350+1757C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352959C= | CA2336426182 | TGFB1,TMEM91 | c.86G= (p.Gly29=) c.-30+1757C= (n.-30+1757C=) n.350+1757C= | |
19 | g.41352959C>G | CA9460174 | TGFB1,TMEM91 | c.86G>C (p.Gly29Ala) c.-30+1757C>G (n.-30+1757C>G) n.350+1757C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352959C>T | CA9460173 | TGFB1,TMEM91 | c.86G>A (p.Gly29Glu) c.-30+1757C>T (n.-30+1757C>T) n.350+1757C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352961del | CA2585297130 | TGFB1,TMEM91 | c.86del (p.Gly29AspfsTer13) c.-30+1759del (n.-30+1759del) n.350+1759del | gnomAD v4 |
19 | g.41352960_41352961del | CA2585297131 | TGFB1,TMEM91 | c.85_86del (p.Gly29ThrfsTer?) c.-30+1758_-30+1759del (n.-30+1758_-30+1759del) n.350+1758_350+1759del | gnomAD v4 |
19 | g.41352960C>A | CA406006279 | TGFB1,TMEM91 | c.85G>T (p.Gly29Ter) c.-30+1758C>A (n.-30+1758C>A) n.350+1758C>A | gnomAD v4 |
19 | g.41352960C= | CA2336426183 | TGFB1,TMEM91 | c.85G= (p.Gly29=) c.-30+1758C= (n.-30+1758C=) n.350+1758C= | |
19 | g.41352960C>G | CA308518692 | TGFB1,TMEM91 | c.85G>C (p.Gly29Arg) c.-30+1758C>G (n.-30+1758C>G) n.350+1758C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352960C>T | CA9460175 | TGFB1,TMEM91 | c.85G>A (p.Gly29Arg) c.-30+1758C>T (n.-30+1758C>T) n.350+1758C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41352961C>A | CA507690308 | TGFB1,TMEM91 | c.84G>T (p.Ala28=) c.-30+1759C>A (n.-30+1759C>A) n.350+1759C>A | gnomAD v4 |
19 | g.41352961C= | CA2336426184 | TGFB1,TMEM91 | c.84G= (p.Ala28=) c.-30+1759C= (n.-30+1759C=) n.350+1759C= | |
19 | g.41352961C>G | CA507690309 | TGFB1,TMEM91 | c.84G>C (p.Ala28=) c.-30+1759C>G (n.-30+1759C>G) n.350+1759C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352961C>T | CA308518705 | TGFB1,TMEM91 | c.84G>A (p.Ala28=) c.-30+1759C>T (n.-30+1759C>T) n.350+1759C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352962G>A | CA406006283 | TGFB1,TMEM91 | c.83C>T (p.Ala28Val) c.-30+1760G>A (n.-30+1760G>A) n.350+1760G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352962G>C | CA406006285 | TGFB1,TMEM91 | c.83C>G (p.Ala28Gly) c.-30+1760G>C (n.-30+1760G>C) n.350+1760G>C | |
19 | g.41352962G= | CA2336426185 | TGFB1,TMEM91 | c.83C= (p.Ala28=) c.-30+1760G= (n.-30+1760G=) n.350+1760G= | |
19 | g.41352962G>T | CA406006287 | TGFB1,TMEM91 | c.83C>A (p.Ala28Glu) c.-30+1760G>T (n.-30+1760G>T) n.350+1760G>T | gnomAD v4 |
19 | g.41352963C>A | CA406006288 | TGFB1,TMEM91 | c.82G>T (p.Ala28Ser) c.-30+1761C>A (n.-30+1761C>A) n.350+1761C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352963C= | CA2336426186 | TGFB1,TMEM91 | c.82G= (p.Ala28=) c.-30+1761C= (n.-30+1761C=) n.350+1761C= | |
19 | g.41352963C>G | CA406006291 | TGFB1,TMEM91 | c.82G>C (p.Ala28Pro) c.-30+1761C>G (n.-30+1761C>G) n.350+1761C>G | |
19 | g.41352963C>T | CA406006289 | TGFB1,TMEM91 | c.82G>A (p.Ala28Thr) c.-30+1761C>T (n.-30+1761C>T) n.350+1761C>T | gnomAD v4 |
19 | g.41352972_41352975del | CA2585297132 | TGFB1,TMEM91 | c.79_82del (p.Ala27ArgfsTer14) c.-30+1770_-30+1773del (n.-30+1770_-30+1773del) n.350+1770_350+1773del | gnomAD v4 |