| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.8355484C>A | CA338168125 | RERE | c.2940G>T (p.Gln980His) c.4602G>T (p.Gln1534His) c.3798G>T (p.Gln1266His) c.1656G>T (p.Gln552His) c.4476G>T (p.Gln1492His) | |
| 1 | g.8355484C>G | CA338168126 | RERE | c.2940G>C (p.Gln980His) c.4602G>C (p.Gln1534His) c.3798G>C (p.Gln1266His) c.1656G>C (p.Gln552His) c.4476G>C (p.Gln1492His) | |
| 1 | g.8355484C>T | CA415841843 | RERE | c.2940G>A (p.Gln980=) c.4602G>A (p.Gln1534=) c.3798G>A (p.Gln1266=) c.1656G>A (p.Gln552=) c.4476G>A (p.Gln1492=) | gnomAD v4 |
| 1 | g.8355485T>A | CA338168127 | RERE | c.2939A>T (p.Gln980Leu) c.4601A>T (p.Gln1534Leu) c.3797A>T (p.Gln1266Leu) c.1655A>T (p.Gln552Leu) c.4475A>T (p.Gln1492Leu) | |
| 1 | g.8355485T>C | CA338168128 | RERE | c.2939A>G (p.Gln980Arg) c.4601A>G (p.Gln1534Arg) c.3797A>G (p.Gln1266Arg) c.1655A>G (p.Gln552Arg) c.4475A>G (p.Gln1492Arg) | gnomAD v4 |
| 1 | g.8355485T>G | CA338168129 | RERE | c.2939A>C (p.Gln980Pro) c.4601A>C (p.Gln1534Pro) c.3797A>C (p.Gln1266Pro) c.1655A>C (p.Gln552Pro) c.4475A>C (p.Gln1492Pro) | |
| 1 | g.8355486G>A | CA338168130 | RERE | c.2938C>T (p.Gln980Ter) c.4600C>T (p.Gln1534Ter) c.3796C>T (p.Gln1266Ter) c.1654C>T (p.Gln552Ter) c.4474C>T (p.Gln1492Ter) | |
| 1 | g.8355486G>C | CA338168131 | RERE | c.2938C>G (p.Gln980Glu) c.4600C>G (p.Gln1534Glu) c.3796C>G (p.Gln1266Glu) c.1654C>G (p.Gln552Glu) c.4474C>G (p.Gln1492Glu) | |
| 1 | g.8355486G>T | CA338168132 | RERE | c.2938C>A (p.Gln980Lys) c.4600C>A (p.Gln1534Lys) c.3796C>A (p.Gln1266Lys) c.1654C>A (p.Gln552Lys) c.4474C>A (p.Gln1492Lys) | gnomAD v4 |
| 1 | g.8355487C>A | CA338168133 | RERE | c.2937G>T (p.Glu979Asp) c.4599G>T (p.Glu1533Asp) c.3795G>T (p.Glu1265Asp) c.1653G>T (p.Glu551Asp) c.4473G>T (p.Glu1491Asp) | |
| 1 | g.8355487C>G | CA338168134 | RERE | c.2937G>C (p.Glu979Asp) c.4599G>C (p.Glu1533Asp) c.3795G>C (p.Glu1265Asp) c.1653G>C (p.Glu551Asp) c.4473G>C (p.Glu1491Asp) | |
| 1 | g.8355487C>T | CA415841854 | RERE | c.2937G>A (p.Glu979=) c.4599G>A (p.Glu1533=) c.3795G>A (p.Glu1265=) c.1653G>A (p.Glu551=) c.4473G>A (p.Glu1491=) | gnomAD v4 |
| 1 | g.8355488T>A | CA338168135 | RERE | c.2936A>T (p.Glu979Val) c.4598A>T (p.Glu1533Val) c.3794A>T (p.Glu1265Val) c.1652A>T (p.Glu551Val) c.4472A>T (p.Glu1491Val) | |
| 1 | g.8355488T>C | CA338168136 | RERE | c.2936A>G (p.Glu979Gly) c.4598A>G (p.Glu1533Gly) c.3794A>G (p.Glu1265Gly) c.1652A>G (p.Glu551Gly) c.4472A>G (p.Glu1491Gly) | dbSNP |
| 1 | g.8355488T>G | CA338168137 | RERE | c.2936A>C (p.Glu979Ala) c.4598A>C (p.Glu1533Ala) c.3794A>C (p.Glu1265Ala) c.1652A>C (p.Glu551Ala) c.4472A>C (p.Glu1491Ala) | |
| 1 | g.8355488T= | CA1152318855 | RERE | c.2936A= (p.Glu979=) c.4598A= (p.Glu1533=) c.3794A= (p.Glu1265=) c.1652A= (p.Glu551=) c.4472A= (p.Glu1491=) | |
| 1 | g.8355489C>A | CA338168139 | RERE | c.2935G>T (p.Glu979Ter) c.4597G>T (p.Glu1533Ter) c.3793G>T (p.Glu1265Ter) c.1651G>T (p.Glu551Ter) c.4471G>T (p.Glu1491Ter) | |
| 1 | g.8355489C>G | CA338168140 | RERE | c.2935G>C (p.Glu979Gln) c.4597G>C (p.Glu1533Gln) c.3793G>C (p.Glu1265Gln) c.1651G>C (p.Glu551Gln) c.4471G>C (p.Glu1491Gln) | |
| 1 | g.8355489C>T | CA338168138 | RERE | c.2935G>A (p.Glu979Lys) c.4597G>A (p.Glu1533Lys) c.3793G>A (p.Glu1265Lys) c.1651G>A (p.Glu551Lys) c.4471G>A (p.Glu1491Lys) | |
| 1 | g.8355490C>A | CA338168142 | RERE | c.2934G>T (p.Met978Ile) c.4596G>T (p.Met1532Ile) c.3792G>T (p.Met1264Ile) c.1650G>T (p.Met550Ile) c.4470G>T (p.Met1490Ile) | |
| 1 | g.8355490C>G | CA338168141 | RERE | c.2934G>C (p.Met978Ile) c.4596G>C (p.Met1532Ile) c.3792G>C (p.Met1264Ile) c.1650G>C (p.Met550Ile) c.4470G>C (p.Met1490Ile) | |
| 1 | g.8355490C>T | CA338168143 | RERE | c.2934G>A (p.Met978Ile) c.4596G>A (p.Met1532Ile) c.3792G>A (p.Met1264Ile) c.1650G>A (p.Met550Ile) c.4470G>A (p.Met1490Ile) | |
| 1 | g.8355491A= | CA1152318856 | RERE | c.2933T= (p.Met978=) c.4595T= (p.Met1532=) c.3791T= (p.Met1264=) c.1649T= (p.Met550=) c.4469T= (p.Met1490=) | |
| 1 | g.8355491A>C | CA338168144 | RERE | c.2933T>G (p.Met978Arg) c.4595T>G (p.Met1532Arg) c.3791T>G (p.Met1264Arg) c.1649T>G (p.Met550Arg) c.4469T>G (p.Met1490Arg) | |
| 1 | g.8355491A>G | CA338168146 | RERE | c.2933T>C (p.Met978Thr) c.4595T>C (p.Met1532Thr) c.3791T>C (p.Met1264Thr) c.1649T>C (p.Met550Thr) c.4469T>C (p.Met1490Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.8355491A>T | CA338168145 | RERE | c.2933T>A (p.Met978Lys) c.4595T>A (p.Met1532Lys) c.3791T>A (p.Met1264Lys) c.1649T>A (p.Met550Lys) c.4469T>A (p.Met1490Lys) | |
| 1 | g.8355492T>A | CA338168147 | RERE | c.2932A>T (p.Met978Leu) c.4594A>T (p.Met1532Leu) c.3790A>T (p.Met1264Leu) c.1648A>T (p.Met550Leu) c.4468A>T (p.Met1490Leu) | |
| 1 | g.8355492T>C | CA338168148 | RERE | c.2932A>G (p.Met978Val) c.4594A>G (p.Met1532Val) c.3790A>G (p.Met1264Val) c.1648A>G (p.Met550Val) c.4468A>G (p.Met1490Val) | ClinVar dbSNP |
| 1 | g.8355492T>G | CA338168149 | RERE | c.2932A>C (p.Met978Leu) c.4594A>C (p.Met1532Leu) c.3790A>C (p.Met1264Leu) c.1648A>C (p.Met550Leu) c.4468A>C (p.Met1490Leu) | |
| 1 | g.8355492T= | CA1152318857 | RERE | c.2932A= (p.Met978=) c.4594A= (p.Met1532=) c.3790A= (p.Met1264=) c.1648A= (p.Met550=) c.4468A= (p.Met1490=) | |
| 1 | g.8355493G>A | CA415841871 | RERE | c.2931C>T (p.Ala977=) c.4593C>T (p.Ala1531=) c.3789C>T (p.Ala1263=) c.1647C>T (p.Ala549=) c.4467C>T (p.Ala1489=) | |
| 1 | g.8355493G>C | CA415841872 | RERE | c.2931C>G (p.Ala977=) c.4593C>G (p.Ala1531=) c.3789C>G (p.Ala1263=) c.1647C>G (p.Ala549=) c.4467C>G (p.Ala1489=) | |
| 1 | g.8355493G>T | CA415841874 | RERE | c.2931C>A (p.Ala977=) c.4593C>A (p.Ala1531=) c.3789C>A (p.Ala1263=) c.1647C>A (p.Ala549=) c.4467C>A (p.Ala1489=) | |
| 1 | g.8355494G>A | CA338168150 | RERE | c.2930C>T (p.Ala977Val) c.4592C>T (p.Ala1531Val) c.3788C>T (p.Ala1263Val) c.1646C>T (p.Ala549Val) c.4466C>T (p.Ala1489Val) | gnomAD v4 |
| 1 | g.8355494G>C | CA338168151 | RERE | c.2930C>G (p.Ala977Gly) c.4592C>G (p.Ala1531Gly) c.3788C>G (p.Ala1263Gly) c.1646C>G (p.Ala549Gly) c.4466C>G (p.Ala1489Gly) | |
| 1 | g.8355494G>T | CA338168152 | RERE | c.2930C>A (p.Ala977Asp) c.4592C>A (p.Ala1531Asp) c.3788C>A (p.Ala1263Asp) c.1646C>A (p.Ala549Asp) c.4466C>A (p.Ala1489Asp) | |
| 1 | g.8355495C>A | CA570737 | RERE | c.2929G>T (p.Ala977Ser) c.4591G>T (p.Ala1531Ser) c.3787G>T (p.Ala1263Ser) c.1645G>T (p.Ala549Ser) c.4465G>T (p.Ala1489Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.8355495C= | CA1152318858 | RERE | c.2929G= (p.Ala977=) c.4591G= (p.Ala1531=) c.3787G= (p.Ala1263=) c.1645G= (p.Ala549=) c.4465G= (p.Ala1489=) | |
| 1 | g.8355495C>G | CA338168153 | RERE | c.2929G>C (p.Ala977Pro) c.4591G>C (p.Ala1531Pro) c.3787G>C (p.Ala1263Pro) c.1645G>C (p.Ala549Pro) c.4465G>C (p.Ala1489Pro) | |
| 1 | g.8355495C>T | CA338168154 | RERE | c.2929G>A (p.Ala977Thr) c.4591G>A (p.Ala1531Thr) c.3787G>A (p.Ala1263Thr) c.1645G>A (p.Ala549Thr) c.4465G>A (p.Ala1489Thr) | dbSNP |
| 1 | g.8355496C>A | CA415841884 | RERE | c.2928G>T (p.Leu976=) c.4590G>T (p.Leu1530=) c.3786G>T (p.Leu1262=) c.1644G>T (p.Leu548=) c.4464G>T (p.Leu1488=) | |
| 1 | g.8355496C>G | CA415841885 | RERE | c.2928G>C (p.Leu976=) c.4590G>C (p.Leu1530=) c.3786G>C (p.Leu1262=) c.1644G>C (p.Leu548=) c.4464G>C (p.Leu1488=) | |
| 1 | g.8355496C>T | CA415841887 | RERE | c.2928G>A (p.Leu976=) c.4590G>A (p.Leu1530=) c.3786G>A (p.Leu1262=) c.1644G>A (p.Leu548=) c.4464G>A (p.Leu1488=) | |
| 1 | g.8355497A>C | CA338168155 | RERE | c.2927T>G (p.Leu976Arg) c.4589T>G (p.Leu1530Arg) c.3785T>G (p.Leu1262Arg) c.1643T>G (p.Leu548Arg) c.4463T>G (p.Leu1488Arg) | |
| 1 | g.8355497A>G | CA338168156 | RERE | c.2927T>C (p.Leu976Pro) c.4589T>C (p.Leu1530Pro) c.3785T>C (p.Leu1262Pro) c.1643T>C (p.Leu548Pro) c.4463T>C (p.Leu1488Pro) | |
| 1 | g.8355497A>T | CA338168157 | RERE | c.2927T>A (p.Leu976Gln) c.4589T>A (p.Leu1530Gln) c.3785T>A (p.Leu1262Gln) c.1643T>A (p.Leu548Gln) c.4463T>A (p.Leu1488Gln) | |
| 1 | g.8355498G>A | CA415841894 | RERE | c.2926C>T (p.Leu976=) c.4588C>T (p.Leu1530=) c.3784C>T (p.Leu1262=) c.1642C>T (p.Leu548=) c.4462C>T (p.Leu1488=) | |
| 1 | g.8355498G>C | CA338168158 | RERE | c.2926C>G (p.Leu976Val) c.4588C>G (p.Leu1530Val) c.3784C>G (p.Leu1262Val) c.1642C>G (p.Leu548Val) c.4462C>G (p.Leu1488Val) | |
| 1 | g.8355498G>T | CA338168159 | RERE | c.2926C>A (p.Leu976Met) c.4588C>A (p.Leu1530Met) c.3784C>A (p.Leu1262Met) c.1642C>A (p.Leu548Met) c.4462C>A (p.Leu1488Met) | |
| 1 | g.8355499T>A | CA338168160 | RERE | c.2925A>T (p.Arg975Ser) c.4587A>T (p.Arg1529Ser) c.3783A>T (p.Arg1261Ser) c.1641A>T (p.Arg547Ser) c.4461A>T (p.Arg1487Ser) | |
| 1 | g.8355499T>C | CA570738 | RERE | c.2925A>G (p.Arg975=) c.4587A>G (p.Arg1529=) c.3783A>G (p.Arg1261=) c.1641A>G (p.Arg547=) c.4461A>G (p.Arg1487=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.8355499T>G | CA338168161 | RERE | c.2925A>C (p.Arg975Ser) c.4587A>C (p.Arg1529Ser) c.3783A>C (p.Arg1261Ser) c.1641A>C (p.Arg547Ser) c.4461A>C (p.Arg1487Ser) | |
| 1 | g.8355499T= | CA1152318859 | RERE | c.2925A= (p.Arg975=) c.4587A= (p.Arg1529=) c.3783A= (p.Arg1261=) c.1641A= (p.Arg547=) c.4461A= (p.Arg1487=) | |
| 1 | g.8355500C>A | CA338168162 | RERE | c.2924G>T (p.Arg975Ile) c.4586G>T (p.Arg1529Ile) c.3782G>T (p.Arg1261Ile) c.1640G>T (p.Arg547Ile) c.4460G>T (p.Arg1487Ile) | |
| 1 | g.8355500C>G | CA338168163 | RERE | c.2924G>C (p.Arg975Thr) c.4586G>C (p.Arg1529Thr) c.3782G>C (p.Arg1261Thr) c.1640G>C (p.Arg547Thr) c.4460G>C (p.Arg1487Thr) | |
| 1 | g.8355500C>T | CA338168164 | RERE | c.2924G>A (p.Arg975Lys) c.4586G>A (p.Arg1529Lys) c.3782G>A (p.Arg1261Lys) c.1640G>A (p.Arg547Lys) c.4460G>A (p.Arg1487Lys) | |
| 1 | g.8355501T>A | CA338168165 | RERE | c.2923A>T (p.Arg975Ter) c.4585A>T (p.Arg1529Ter) c.3781A>T (p.Arg1261Ter) c.1639A>T (p.Arg547Ter) c.4459A>T (p.Arg1487Ter) | |
| 1 | g.8355501T>C | CA338168166 | RERE | c.2923A>G (p.Arg975Gly) c.4585A>G (p.Arg1529Gly) c.3781A>G (p.Arg1261Gly) c.1639A>G (p.Arg547Gly) c.4459A>G (p.Arg1487Gly) | |
| 1 | g.8355501T>G | CA415841904 | RERE | c.2923A>C (p.Arg975=) c.4585A>C (p.Arg1529=) c.3781A>C (p.Arg1261=) c.1639A>C (p.Arg547=) c.4459A>C (p.Arg1487=) | |
| 1 | g.8355502C>A | CA338168167 | RERE | c.2922G>T (p.Gln974His) c.4584G>T (p.Gln1528His) c.3780G>T (p.Gln1260His) c.1638G>T (p.Gln546His) c.4458G>T (p.Gln1486His) | dbSNP gnomAD v4 |
| 1 | g.8355502C= | CA1152318860 | RERE | c.2922G= (p.Gln974=) c.4584G= (p.Gln1528=) c.3780G= (p.Gln1260=) c.1638G= (p.Gln546=) c.4458G= (p.Gln1486=) | |
| 1 | g.8355502C>G | CA338168168 | RERE | c.2922G>C (p.Gln974His) c.4584G>C (p.Gln1528His) c.3780G>C (p.Gln1260His) c.1638G>C (p.Gln546His) c.4458G>C (p.Gln1486His) | |
| 1 | g.8355502C>T | CA415841909 | RERE | c.2922G>A (p.Gln974=) c.4584G>A (p.Gln1528=) c.3780G>A (p.Gln1260=) c.1638G>A (p.Gln546=) c.4458G>A (p.Gln1486=) | |
| 1 | g.8355503T>A | CA338168169 | RERE | c.2921A>T (p.Gln974Leu) c.4583A>T (p.Gln1528Leu) c.3779A>T (p.Gln1260Leu) c.1637A>T (p.Gln546Leu) c.4457A>T (p.Gln1486Leu) | |
| 1 | g.8355503T>C | CA338168170 | RERE | c.2921A>G (p.Gln974Arg) c.4583A>G (p.Gln1528Arg) c.3779A>G (p.Gln1260Arg) c.1637A>G (p.Gln546Arg) c.4457A>G (p.Gln1486Arg) | gnomAD v4 |
| 1 | g.8355503T>G | CA338168171 | RERE | c.2921A>C (p.Gln974Pro) c.4583A>C (p.Gln1528Pro) c.3779A>C (p.Gln1260Pro) c.1637A>C (p.Gln546Pro) c.4457A>C (p.Gln1486Pro) | |
| 1 | g.8355504G>A | CA338168172 | RERE | c.2920C>T (p.Gln974Ter) c.4582C>T (p.Gln1528Ter) c.3778C>T (p.Gln1260Ter) c.1636C>T (p.Gln546Ter) c.4456C>T (p.Gln1486Ter) | gnomAD v4 |
| 1 | g.8355504G>C | CA338168174 | RERE | c.2920C>G (p.Gln974Glu) c.4582C>G (p.Gln1528Glu) c.3778C>G (p.Gln1260Glu) c.1636C>G (p.Gln546Glu) c.4456C>G (p.Gln1486Glu) | |
| 1 | g.8355504G>T | CA338168173 | RERE | c.2920C>A (p.Gln974Lys) c.4582C>A (p.Gln1528Lys) c.3778C>A (p.Gln1260Lys) c.1636C>A (p.Gln546Lys) c.4456C>A (p.Gln1486Lys) | |
| 1 | g.8355505C>A | CA415841918 | RERE | c.2919G>T (p.Leu973=) c.4581G>T (p.Leu1527=) c.3777G>T (p.Leu1259=) c.1635G>T (p.Leu545=) c.4455G>T (p.Leu1485=) | |
| 1 | g.8355505C= | CA1152318861 | RERE | c.2919G= (p.Leu973=) c.4581G= (p.Leu1527=) c.3777G= (p.Leu1259=) c.1635G= (p.Leu545=) c.4455G= (p.Leu1485=) | |
| 1 | g.8355505C>G | CA415841920 | RERE | c.2919G>C (p.Leu973=) c.4581G>C (p.Leu1527=) c.3777G>C (p.Leu1259=) c.1635G>C (p.Leu545=) c.4455G>C (p.Leu1485=) | |
| 1 | g.8355505C>T | CA415841923 | RERE | c.2919G>A (p.Leu973=) c.4581G>A (p.Leu1527=) c.3777G>A (p.Leu1259=) c.1635G>A (p.Leu545=) c.4455G>A (p.Leu1485=) | dbSNP |
| 1 | g.8355506A>C | CA338168175 | RERE | c.2918T>G (p.Leu973Arg) c.4580T>G (p.Leu1527Arg) c.3776T>G (p.Leu1259Arg) c.1634T>G (p.Leu545Arg) c.4454T>G (p.Leu1485Arg) | gnomAD v4 |
| 1 | g.8355506A>G | CA338168176 | RERE | c.2918T>C (p.Leu973Pro) c.4580T>C (p.Leu1527Pro) c.3776T>C (p.Leu1259Pro) c.1634T>C (p.Leu545Pro) c.4454T>C (p.Leu1485Pro) | |
| 1 | g.8355506A>T | CA338168177 | RERE | c.2918T>A (p.Leu973Gln) c.4580T>A (p.Leu1527Gln) c.3776T>A (p.Leu1259Gln) c.1634T>A (p.Leu545Gln) c.4454T>A (p.Leu1485Gln) | |
| 1 | g.8355507G>A | CA415841928 | RERE | c.2917C>T (p.Leu973=) c.4579C>T (p.Leu1527=) c.3775C>T (p.Leu1259=) c.1633C>T (p.Leu545=) c.4453C>T (p.Leu1485=) | gnomAD v4 |
| 1 | g.8355507G>C | CA338168178 | RERE | c.2917C>G (p.Leu973Val) c.4579C>G (p.Leu1527Val) c.3775C>G (p.Leu1259Val) c.1633C>G (p.Leu545Val) c.4453C>G (p.Leu1485Val) | |
| 1 | g.8355507G>T | CA338168179 | RERE | c.2917C>A (p.Leu973Met) c.4579C>A (p.Leu1527Met) c.3775C>A (p.Leu1259Met) c.1633C>A (p.Leu545Met) c.4453C>A (p.Leu1485Met) | gnomAD v4 |
| 1 | g.8355508C>A | CA338168180 | RERE | c.2916G>T (p.Glu972Asp) c.4578G>T (p.Glu1526Asp) c.3774G>T (p.Glu1258Asp) c.1632G>T (p.Glu544Asp) c.4452G>T (p.Glu1484Asp) | |
| 1 | g.8355508C>G | CA338168181 | RERE | c.2916G>C (p.Glu972Asp) c.4578G>C (p.Glu1526Asp) c.3774G>C (p.Glu1258Asp) c.1632G>C (p.Glu544Asp) c.4452G>C (p.Glu1484Asp) | |
| 1 | g.8355508C>T | CA415841935 | RERE | c.2916G>A (p.Glu972=) c.4578G>A (p.Glu1526=) c.3774G>A (p.Glu1258=) c.1632G>A (p.Glu544=) c.4452G>A (p.Glu1484=) | |
| 1 | g.8355509T>A | CA338168182 | RERE | c.2915A>T (p.Glu972Val) c.4577A>T (p.Glu1526Val) c.3773A>T (p.Glu1258Val) c.1631A>T (p.Glu544Val) c.4451A>T (p.Glu1484Val) | |
| 1 | g.8355509T>C | CA338168183 | RERE | c.2915A>G (p.Glu972Gly) c.4577A>G (p.Glu1526Gly) c.3773A>G (p.Glu1258Gly) c.1631A>G (p.Glu544Gly) c.4451A>G (p.Glu1484Gly) | |
| 1 | g.8355509T>G | CA338168184 | RERE | c.2915A>C (p.Glu972Ala) c.4577A>C (p.Glu1526Ala) c.3773A>C (p.Glu1258Ala) c.1631A>C (p.Glu544Ala) c.4451A>C (p.Glu1484Ala) | |
| 1 | g.8355510C>A | CA338168185 | RERE | c.2914G>T (p.Glu972Ter) c.4576G>T (p.Glu1526Ter) c.3772G>T (p.Glu1258Ter) c.1630G>T (p.Glu544Ter) c.4450G>T (p.Glu1484Ter) | gnomAD v4 |
| 1 | g.8355510C>G | CA338168186 | RERE | c.2914G>C (p.Glu972Gln) c.4576G>C (p.Glu1526Gln) c.3772G>C (p.Glu1258Gln) c.1630G>C (p.Glu544Gln) c.4450G>C (p.Glu1484Gln) | |
| 1 | g.8355510C>T | CA338168187 | RERE | c.2914G>A (p.Glu972Lys) c.4576G>A (p.Glu1526Lys) c.3772G>A (p.Glu1258Lys) c.1630G>A (p.Glu544Lys) c.4450G>A (p.Glu1484Lys) | |
| 1 | g.8355511G>A | CA415841944 | RERE | c.2913C>T (p.Ala971=) c.4575C>T (p.Ala1525=) c.3771C>T (p.Ala1257=) c.1629C>T (p.Ala543=) c.4449C>T (p.Ala1483=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.8355511G>C | CA570739 | RERE | c.2913C>G (p.Ala971=) c.4575C>G (p.Ala1525=) c.3771C>G (p.Ala1257=) c.1629C>G (p.Ala543=) c.4449C>G (p.Ala1483=) | dbSNP ExAC gnomAD v2 |
| 1 | g.8355511G= | CA1152318862 | RERE | c.2913C= (p.Ala971=) c.4575C= (p.Ala1525=) c.3771C= (p.Ala1257=) c.1629C= (p.Ala543=) c.4449C= (p.Ala1483=) | |
| 1 | g.8355511G>T | CA415841947 | RERE | c.2913C>A (p.Ala971=) c.4575C>A (p.Ala1525=) c.3771C>A (p.Ala1257=) c.1629C>A (p.Ala543=) c.4449C>A (p.Ala1483=) | gnomAD v4 |
| 1 | g.8355512G>A | CA338168188 | RERE | c.2912C>T (p.Ala971Val) c.4574C>T (p.Ala1525Val) c.3770C>T (p.Ala1257Val) c.1628C>T (p.Ala543Val) c.4448C>T (p.Ala1483Val) | |
| 1 | g.8355512G>C | CA338168189 | RERE | c.2912C>G (p.Ala971Gly) c.4574C>G (p.Ala1525Gly) c.3770C>G (p.Ala1257Gly) c.1628C>G (p.Ala543Gly) c.4448C>G (p.Ala1483Gly) | |
| 1 | g.8355512G>T | CA338168190 | RERE | c.2912C>A (p.Ala971Asp) c.4574C>A (p.Ala1525Asp) c.3770C>A (p.Ala1257Asp) c.1628C>A (p.Ala543Asp) c.4448C>A (p.Ala1483Asp) | |
| 1 | g.8355513C>A | CA338168191 | RERE | c.2911G>T (p.Ala971Ser) c.4573G>T (p.Ala1525Ser) c.3769G>T (p.Ala1257Ser) c.1627G>T (p.Ala543Ser) c.4447G>T (p.Ala1483Ser) | |
| 1 | g.8355513C>G | CA338168192 | RERE | c.2911G>C (p.Ala971Pro) c.4573G>C (p.Ala1525Pro) c.3769G>C (p.Ala1257Pro) c.1627G>C (p.Ala543Pro) c.4447G>C (p.Ala1483Pro) | |
| 1 | g.8355513C>T | CA338168193 | RERE | c.2911G>A (p.Ala971Thr) c.4573G>A (p.Ala1525Thr) c.3769G>A (p.Ala1257Thr) c.1627G>A (p.Ala543Thr) c.4447G>A (p.Ala1483Thr) | |
| 1 | g.8355514C>A | CA415841955 | RERE | c.2910G>T (p.Ser970=) c.4572G>T (p.Ser1524=) c.3768G>T (p.Ser1256=) c.1626G>T (p.Ser542=) c.4446G>T (p.Ser1482=) | |
| 1 | g.8355514C= | CA1152318863 | RERE | c.2910G= (p.Ser970=) c.4572G= (p.Ser1524=) c.3768G= (p.Ser1256=) c.1626G= (p.Ser542=) c.4446G= (p.Ser1482=) | |
| 1 | g.8355514C>G | CA415841957 | RERE | c.2910G>C (p.Ser970=) c.4572G>C (p.Ser1524=) c.3768G>C (p.Ser1256=) c.1626G>C (p.Ser542=) c.4446G>C (p.Ser1482=) | |
| 1 | g.8355514C>T | CA570740 | RERE | c.2910G>A (p.Ser970=) c.4572G>A (p.Ser1524=) c.3768G>A (p.Ser1256=) c.1626G>A (p.Ser542=) c.4446G>A (p.Ser1482=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.8355515G>A | CA338168194 | RERE | c.2909C>T (p.Ser970Leu) c.4571C>T (p.Ser1524Leu) c.3767C>T (p.Ser1256Leu) c.1625C>T (p.Ser542Leu) c.4445C>T (p.Ser1482Leu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.8355515G>C | CA338168195 | RERE | c.2909C>G (p.Ser970Trp) c.4571C>G (p.Ser1524Trp) c.3767C>G (p.Ser1256Trp) c.1625C>G (p.Ser542Trp) c.4445C>G (p.Ser1482Trp) | |
| 1 | g.8355515G= | CA1152318864 | RERE | c.2909C= (p.Ser970=) c.4571C= (p.Ser1524=) c.3767C= (p.Ser1256=) c.1625C= (p.Ser542=) c.4445C= (p.Ser1482=) | |
| 1 | g.8355515G>T | CA338168196 | RERE | c.2909C>A (p.Ser970Ter) c.4571C>A (p.Ser1524Ter) c.3767C>A (p.Ser1256Ter) c.1625C>A (p.Ser542Ter) c.4445C>A (p.Ser1482Ter) | |
| 1 | g.8355516A>C | CA338168197 | RERE | c.2908T>G (p.Ser970Ala) c.4570T>G (p.Ser1524Ala) c.3766T>G (p.Ser1256Ala) c.1624T>G (p.Ser542Ala) c.4444T>G (p.Ser1482Ala) | |
| 1 | g.8355516A>G | CA338168198 | RERE | c.2908T>C (p.Ser970Pro) c.4570T>C (p.Ser1524Pro) c.3766T>C (p.Ser1256Pro) c.1624T>C (p.Ser542Pro) c.4444T>C (p.Ser1482Pro) | |
| 1 | g.8355516A>T | CA338168199 | RERE | c.2908T>A (p.Ser970Thr) c.4570T>A (p.Ser1524Thr) c.3766T>A (p.Ser1256Thr) c.1624T>A (p.Ser542Thr) c.4444T>A (p.Ser1482Thr) | |
| 1 | g.8355517C>A | CA338168200 | RERE | c.2907G>T (p.Gln969His) c.4569G>T (p.Gln1523His) c.3765G>T (p.Gln1255His) c.1623G>T (p.Gln541His) c.4443G>T (p.Gln1481His) | |
| 1 | g.8355517C>G | CA338168201 | RERE | c.2907G>C (p.Gln969His) c.4569G>C (p.Gln1523His) c.3765G>C (p.Gln1255His) c.1623G>C (p.Gln541His) c.4443G>C (p.Gln1481His) | |
| 1 | g.8355517C>T | CA415841968 | RERE | c.2907G>A (p.Gln969=) c.4569G>A (p.Gln1523=) c.3765G>A (p.Gln1255=) c.1623G>A (p.Gln541=) c.4443G>A (p.Gln1481=) | gnomAD v4 |
| 1 | g.8355518T>A | CA338168202 | RERE | c.2906A>T (p.Gln969Leu) c.4568A>T (p.Gln1523Leu) c.3764A>T (p.Gln1255Leu) c.1622A>T (p.Gln541Leu) c.4442A>T (p.Gln1481Leu) | |
| 1 | g.8355518T>C | CA338168204 | RERE | c.2906A>G (p.Gln969Arg) c.4568A>G (p.Gln1523Arg) c.3764A>G (p.Gln1255Arg) c.1622A>G (p.Gln541Arg) c.4442A>G (p.Gln1481Arg) | |
| 1 | g.8355518T>G | CA338168203 | RERE | c.2906A>C (p.Gln969Pro) c.4568A>C (p.Gln1523Pro) c.3764A>C (p.Gln1255Pro) c.1622A>C (p.Gln541Pro) c.4442A>C (p.Gln1481Pro) | dbSNP |
| 1 | g.8355518T= | CA1152318865 | RERE | c.2906A= (p.Gln969=) c.4568A= (p.Gln1523=) c.3764A= (p.Gln1255=) c.1622A= (p.Gln541=) c.4442A= (p.Gln1481=) | |
| 1 | g.8355519G>A | CA338168205 | RERE | c.2905C>T (p.Gln969Ter) c.4567C>T (p.Gln1523Ter) c.3763C>T (p.Gln1255Ter) c.1621C>T (p.Gln541Ter) c.4441C>T (p.Gln1481Ter) | |
| 1 | g.8355519G>C | CA338168206 | RERE | c.2905C>G (p.Gln969Glu) c.4567C>G (p.Gln1523Glu) c.3763C>G (p.Gln1255Glu) c.1621C>G (p.Gln541Glu) c.4441C>G (p.Gln1481Glu) | |
| 1 | g.8355519G>T | CA338168207 | RERE | c.2905C>A (p.Gln969Lys) c.4567C>A (p.Gln1523Lys) c.3763C>A (p.Gln1255Lys) c.1621C>A (p.Gln541Lys) c.4441C>A (p.Gln1481Lys) | gnomAD v4 |
| 1 | g.8355520G>A | CA415841977 | RERE | c.2904C>T (p.Ala968=) c.4566C>T (p.Ala1522=) c.3762C>T (p.Ala1254=) c.1620C>T (p.Ala540=) c.4440C>T (p.Ala1480=) | |
| 1 | g.8355520G>C | CA415841981 | RERE | c.2904C>G (p.Ala968=) c.4566C>G (p.Ala1522=) c.3762C>G (p.Ala1254=) c.1620C>G (p.Ala540=) c.4440C>G (p.Ala1480=) | gnomAD v4 |
| 1 | g.8355520G= | CA1152318866 | RERE | c.2904C= (p.Ala968=) c.4566C= (p.Ala1522=) c.3762C= (p.Ala1254=) c.1620C= (p.Ala540=) c.4440C= (p.Ala1480=) | |
| 1 | g.8355520G>T | CA415841979 | RERE | c.2904C>A (p.Ala968=) c.4566C>A (p.Ala1522=) c.3762C>A (p.Ala1254=) c.1620C>A (p.Ala540=) c.4440C>A (p.Ala1480=) | dbSNP gnomAD v2 |
| 1 | g.8355521G>A | CA338168208 | RERE | c.2903C>T (p.Ala968Val) c.4565C>T (p.Ala1522Val) c.3761C>T (p.Ala1254Val) c.1619C>T (p.Ala540Val) c.533C>T c.4439C>T (p.Ala1480Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.8355521G>C | CA338168209 | RERE | c.2903C>G (p.Ala968Gly) c.4565C>G (p.Ala1522Gly) c.3761C>G (p.Ala1254Gly) c.1619C>G (p.Ala540Gly) c.533C>G c.4439C>G (p.Ala1480Gly) | |
| 1 | g.8355521G= | CA1152318867 | RERE | c.2903C= (p.Ala968=) c.4565C= (p.Ala1522=) c.3761C= (p.Ala1254=) c.1619C= (p.Ala540=) c.533C= c.4439C= (p.Ala1480=) | |
| 1 | g.8355521G>T | CA338168210 | RERE | c.2903C>A (p.Ala968Asp) c.4565C>A (p.Ala1522Asp) c.3761C>A (p.Ala1254Asp) c.1619C>A (p.Ala540Asp) c.533C>A c.4439C>A (p.Ala1480Asp) | |
| 1 | g.8355522C>A | CA338168211 | RERE | c.2902G>T (p.Ala968Ser) c.4564G>T (p.Ala1522Ser) c.3760G>T (p.Ala1254Ser) c.1618G>T (p.Ala540Ser) c.532G>T c.4438G>T (p.Ala1480Ser) | gnomAD v4 |
| 1 | g.8355522C= | CA1152318868 | RERE | c.2902G= (p.Ala968=) c.4564G= (p.Ala1522=) c.3760G= (p.Ala1254=) c.1618G= (p.Ala540=) c.532G= c.4438G= (p.Ala1480=) | |
| 1 | g.8355522C>G | CA338168212 | RERE | c.2902G>C (p.Ala968Pro) c.4564G>C (p.Ala1522Pro) c.3760G>C (p.Ala1254Pro) c.1618G>C (p.Ala540Pro) c.532G>C c.4438G>C (p.Ala1480Pro) | |
| 1 | g.8355522C>T | CA338168213 | RERE | c.2902G>A (p.Ala968Thr) c.4564G>A (p.Ala1522Thr) c.3760G>A (p.Ala1254Thr) c.1618G>A (p.Ala540Thr) c.532G>A c.4438G>A (p.Ala1480Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.8355523A= | CA1152318869 | RERE | c.2901T= (p.His967=) c.4563T= (p.His1521=) c.3759T= (p.His1253=) c.1617T= (p.His539=) c.531T= (p.His177=) c.4437T= (p.His1479=) | |
| 1 | g.8355523A>C | CA338168214 | RERE | c.2901T>G (p.His967Gln) c.4563T>G (p.His1521Gln) c.3759T>G (p.His1253Gln) c.1617T>G (p.His539Gln) c.531T>G (p.His177Gln) c.4437T>G (p.His1479Gln) | |
| 1 | g.8355523A>G | CA415841992 | RERE | c.2901T>C (p.His967=) c.4563T>C (p.His1521=) c.3759T>C (p.His1253=) c.1617T>C (p.His539=) c.531T>C (p.His177=) c.4437T>C (p.His1479=) | dbSNP |
| 1 | g.8355523A>T | CA338168215 | RERE | c.2901T>A (p.His967Gln) c.4563T>A (p.His1521Gln) c.3759T>A (p.His1253Gln) c.1617T>A (p.His539Gln) c.531T>A (p.His177Gln) c.4437T>A (p.His1479Gln) | |
| 1 | g.8355524T>A | CA338168218 | RERE | c.2900A>T (p.His967Leu) c.4562A>T (p.His1521Leu) c.3758A>T (p.His1253Leu) c.1616A>T (p.His539Leu) c.530A>T (p.His177Leu) c.4436A>T (p.His1479Leu) | |
| 1 | g.8355524T>C | CA338168217 | RERE | c.2900A>G (p.His967Arg) c.4562A>G (p.His1521Arg) c.3758A>G (p.His1253Arg) c.1616A>G (p.His539Arg) c.530A>G (p.His177Arg) c.4436A>G (p.His1479Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.8355524T>G | CA338168216 | RERE | c.2900A>C (p.His967Pro) c.4562A>C (p.His1521Pro) c.3758A>C (p.His1253Pro) c.1616A>C (p.His539Pro) c.530A>C (p.His177Pro) c.4436A>C (p.His1479Pro) | |
| 1 | g.8355524T= | CA1152318870 | RERE | c.2900A= (p.His967=) c.4562A= (p.His1521=) c.3758A= (p.His1253=) c.1616A= (p.His539=) c.530A= (p.His177=) c.4436A= (p.His1479=) | |
| 1 | g.8355525G>A | CA338168219 | RERE | c.2899C>T (p.His967Tyr) c.4561C>T (p.His1521Tyr) c.3757C>T (p.His1253Tyr) c.1615C>T (p.His539Tyr) c.529C>T (p.His177Tyr) c.4435C>T (p.His1479Tyr) | gnomAD v4 |
| 1 | g.8355525G>C | CA338168220 | RERE | c.2899C>G (p.His967Asp) c.4561C>G (p.His1521Asp) c.3757C>G (p.His1253Asp) c.1615C>G (p.His539Asp) c.529C>G (p.His177Asp) c.4435C>G (p.His1479Asp) | |
| 1 | g.8355525G>T | CA338168221 | RERE | c.2899C>A (p.His967Asn) c.4561C>A (p.His1521Asn) c.3757C>A (p.His1253Asn) c.1615C>A (p.His539Asn) c.529C>A (p.His177Asn) c.4435C>A (p.His1479Asn) | |
| 1 | g.8355526C>A | CA338168222 | RERE | c.2898G>T (p.Met966Ile) c.4560G>T (p.Met1520Ile) c.3756G>T (p.Met1252Ile) c.1614G>T (p.Met538Ile) c.528G>T (p.Met176Ile) c.4434G>T (p.Met1478Ile) | |
| 1 | g.8355526C>G | CA338168223 | RERE | c.2898G>C (p.Met966Ile) c.4560G>C (p.Met1520Ile) c.3756G>C (p.Met1252Ile) c.1614G>C (p.Met538Ile) c.528G>C (p.Met176Ile) c.4434G>C (p.Met1478Ile) | |
| 1 | g.8355526C>T | CA338168224 | RERE | c.2898G>A (p.Met966Ile) c.4560G>A (p.Met1520Ile) c.3756G>A (p.Met1252Ile) c.1614G>A (p.Met538Ile) c.528G>A (p.Met176Ile) c.4434G>A (p.Met1478Ile) | |
| 1 | g.8355527A>C | CA338168225 | RERE | c.2897T>G (p.Met966Arg) c.4559T>G (p.Met1520Arg) c.3755T>G (p.Met1252Arg) c.1613T>G (p.Met538Arg) c.527T>G (p.Met176Arg) c.4433T>G (p.Met1478Arg) | |
| 1 | g.8355527A>G | CA338168226 | RERE | c.2897T>C (p.Met966Thr) c.4559T>C (p.Met1520Thr) c.3755T>C (p.Met1252Thr) c.1613T>C (p.Met538Thr) c.527T>C (p.Met176Thr) c.4433T>C (p.Met1478Thr) | |
| 1 | g.8355527A>T | CA338168227 | RERE | c.2897T>A (p.Met966Lys) c.4559T>A (p.Met1520Lys) c.3755T>A (p.Met1252Lys) c.1613T>A (p.Met538Lys) c.527T>A (p.Met176Lys) c.4433T>A (p.Met1478Lys) | |
| 1 | g.8355527dup | CA2643072836 | RERE | c.2897dup (p.Met966IlefsTer?) c.4559dup (p.Met1520IlefsTer?) c.3755dup (p.Met1252IlefsTer?) c.1613dup (p.Met538IlefsTer?) c.527dup (p.Met176IlefsTer?) c.4433dup (p.Met1478IlefsTer?) | gnomAD v4 |
| 1 | g.8355528T>A | CA338168228 | RERE | c.2896A>T (p.Met966Leu) c.4558A>T (p.Met1520Leu) c.3754A>T (p.Met1252Leu) c.1612A>T (p.Met538Leu) c.526A>T (p.Met176Leu) c.4432A>T (p.Met1478Leu) | |
| 1 | g.8355528T>C | CA338168229 | RERE | c.2896A>G (p.Met966Val) c.4558A>G (p.Met1520Val) c.3754A>G (p.Met1252Val) c.1612A>G (p.Met538Val) c.526A>G (p.Met176Val) c.4432A>G (p.Met1478Val) | dbSNP gnomAD v4 |
| 1 | g.8355528T>G | CA338168230 | RERE | c.2896A>C (p.Met966Leu) c.4558A>C (p.Met1520Leu) c.3754A>C (p.Met1252Leu) c.1612A>C (p.Met538Leu) c.526A>C (p.Met176Leu) c.4432A>C (p.Met1478Leu) | |
| 1 | g.8355528T= | CA1152318871 | RERE | c.2896A= (p.Met966=) c.4558A= (p.Met1520=) c.3754A= (p.Met1252=) c.1612A= (p.Met538=) c.526A= (p.Met176=) c.4432A= (p.Met1478=) | |
| 1 | g.8355529G>A | CA415842012 | RERE | c.2895C>T (p.Ala965=) c.4557C>T (p.Ala1519=) c.3753C>T (p.Ala1251=) c.1611C>T (p.Ala537=) c.525C>T (p.Ala175=) c.4431C>T (p.Ala1477=) | |
| 1 | g.8355529G>C | CA415842014 | RERE | c.2895C>G (p.Ala965=) c.4557C>G (p.Ala1519=) c.3753C>G (p.Ala1251=) c.1611C>G (p.Ala537=) c.525C>G (p.Ala175=) c.4431C>G (p.Ala1477=) | |
| 1 | g.8355529G>T | CA415842010 | RERE | c.2895C>A (p.Ala965=) c.4557C>A (p.Ala1519=) c.3753C>A (p.Ala1251=) c.1611C>A (p.Ala537=) c.525C>A (p.Ala175=) c.4431C>A (p.Ala1477=) | gnomAD v4 |
| 1 | g.8355530G>A | CA338168233 | RERE | c.2894C>T (p.Ala965Val) c.4556C>T (p.Ala1519Val) c.3752C>T (p.Ala1251Val) c.1610C>T (p.Ala537Val) c.524C>T (p.Ala175Val) c.4430C>T (p.Ala1477Val) | gnomAD v4 COSMIC |
| 1 | g.8355530G>C | CA338168232 | RERE | c.2894C>G (p.Ala965Gly) c.4556C>G (p.Ala1519Gly) c.3752C>G (p.Ala1251Gly) c.1610C>G (p.Ala537Gly) c.524C>G (p.Ala175Gly) c.4430C>G (p.Ala1477Gly) | |
| 1 | g.8355530G>T | CA338168231 | RERE | c.2894C>A (p.Ala965Asp) c.4556C>A (p.Ala1519Asp) c.3752C>A (p.Ala1251Asp) c.1610C>A (p.Ala537Asp) c.524C>A (p.Ala175Asp) c.4430C>A (p.Ala1477Asp) | gnomAD v4 |
| 1 | g.8355531C>A | CA338168234 | RERE | c.2893G>T (p.Ala965Ser) c.4555G>T (p.Ala1519Ser) c.3751G>T (p.Ala1251Ser) c.1609G>T (p.Ala537Ser) c.523G>T (p.Ala175Ser) c.4429G>T (p.Ala1477Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.8355531C= | CA1146261592 | RERE | c.2893G= (p.Ala965=) c.4555G= (p.Ala1519=) c.3751G= (p.Ala1251=) c.1609G= (p.Ala537=) c.523G= (p.Ala175=) c.4429G= (p.Ala1477=) | |
| 1 | g.8355531C>G | CA338168235 | RERE | c.2893G>C (p.Ala965Pro) c.4555G>C (p.Ala1519Pro) c.3751G>C (p.Ala1251Pro) c.1609G>C (p.Ala537Pro) c.523G>C (p.Ala175Pro) c.4429G>C (p.Ala1477Pro) | |
| 1 | g.8355531C>T | CA570741 | RERE | c.2893G>A (p.Ala965Thr) c.4555G>A (p.Ala1519Thr) c.3751G>A (p.Ala1251Thr) c.1609G>A (p.Ala537Thr) c.523G>A (p.Ala175Thr) c.4429G>A (p.Ala1477Thr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.8355532C>A | CA570742 | RERE | c.2892G>T (p.Gln964His) c.4554G>T (p.Gln1518His) c.3750G>T (p.Gln1250His) c.1608G>T (p.Gln536His) c.522G>T (p.Gln174His) c.4428G>T (p.Gln1476His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.8355532C= | CA1152318872 | RERE | c.2892G= (p.Gln964=) c.4554G= (p.Gln1518=) c.3750G= (p.Gln1250=) c.1608G= (p.Gln536=) c.522G= (p.Gln174=) c.4428G= (p.Gln1476=) | |
| 1 | g.8355532C>G | CA338168236 | RERE | c.2892G>C (p.Gln964His) c.4554G>C (p.Gln1518His) c.3750G>C (p.Gln1250His) c.1608G>C (p.Gln536His) c.522G>C (p.Gln174His) c.4428G>C (p.Gln1476His) | |
| 1 | g.8355532C>T | CA17687080 | RERE | c.2892G>A (p.Gln964=) c.4554G>A (p.Gln1518=) c.3750G>A (p.Gln1250=) c.1608G>A (p.Gln536=) c.522G>A (p.Gln174=) c.4428G>A (p.Gln1476=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.8355533T>A | CA570743 | RERE | c.2891A>T (p.Gln964Leu) c.4553A>T (p.Gln1518Leu) c.3749A>T (p.Gln1250Leu) c.1607A>T (p.Gln536Leu) c.521A>T (p.Gln174Leu) c.4427A>T (p.Gln1476Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.8355533T>C | CA338168237 | RERE | c.2891A>G (p.Gln964Arg) c.4553A>G (p.Gln1518Arg) c.3749A>G (p.Gln1250Arg) c.1607A>G (p.Gln536Arg) c.521A>G (p.Gln174Arg) c.4427A>G (p.Gln1476Arg) | |
| 1 | g.8355533T>G | CA338168238 | RERE | c.2891A>C (p.Gln964Pro) c.4553A>C (p.Gln1518Pro) c.3749A>C (p.Gln1250Pro) c.1607A>C (p.Gln536Pro) c.521A>C (p.Gln174Pro) c.4427A>C (p.Gln1476Pro) | gnomAD v4 |
| 1 | g.8355533T= | CA1152318873 | RERE | c.2891A= (p.Gln964=) c.4553A= (p.Gln1518=) c.3749A= (p.Gln1250=) c.1607A= (p.Gln536=) c.521A= (p.Gln174=) c.4427A= (p.Gln1476=) | |
| 1 | g.8355534G>A | CA338168239 | RERE | c.2890C>T (p.Gln964Ter) c.4552C>T (p.Gln1518Ter) c.3748C>T (p.Gln1250Ter) c.1606C>T (p.Gln536Ter) c.520C>T (p.Gln174Ter) c.4426C>T (p.Gln1476Ter) | gnomAD v4 |
| 1 | g.8355534G>C | CA338168240 | RERE | c.2890C>G (p.Gln964Glu) c.4552C>G (p.Gln1518Glu) c.3748C>G (p.Gln1250Glu) c.1606C>G (p.Gln536Glu) c.520C>G (p.Gln174Glu) c.4426C>G (p.Gln1476Glu) | |
| 1 | g.8355534G>T | CA338168241 | RERE | c.2890C>A (p.Gln964Lys) c.4552C>A (p.Gln1518Lys) c.3748C>A (p.Gln1250Lys) c.1606C>A (p.Gln536Lys) c.520C>A (p.Gln174Lys) c.4426C>A (p.Gln1476Lys) | |
| 1 | g.8355535C>A | CA17687131 | RERE | c.2889G>T (p.Leu963=) c.4551G>T (p.Leu1517=) c.3747G>T (p.Leu1249=) c.1605G>T (p.Leu535=) c.519G>T (p.Leu173=) c.4425G>T (p.Leu1475=) | dbSNP |
| 1 | g.8355535C= | CA1152318874 | RERE | c.2889G= (p.Leu963=) c.4551G= (p.Leu1517=) c.3747G= (p.Leu1249=) c.1605G= (p.Leu535=) c.519G= (p.Leu173=) c.4425G= (p.Leu1475=) | |
| 1 | g.8355535C>G | CA415842036 | RERE | c.2889G>C (p.Leu963=) c.4551G>C (p.Leu1517=) c.3747G>C (p.Leu1249=) c.1605G>C (p.Leu535=) c.519G>C (p.Leu173=) c.4425G>C (p.Leu1475=) | |
| 1 | g.8355535C>T | CA415842038 | RERE | c.2889G>A (p.Leu963=) c.4551G>A (p.Leu1517=) c.3747G>A (p.Leu1249=) c.1605G>A (p.Leu535=) c.519G>A (p.Leu173=) c.4425G>A (p.Leu1475=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.8355536A= | CA1152318875 | RERE | c.2888T= (p.Leu963=) c.4550T= (p.Leu1517=) c.3746T= (p.Leu1249=) c.1604T= (p.Leu535=) c.518T= (p.Leu173=) c.4424T= (p.Leu1475=) | |
| 1 | g.8355536A>C | CA338168242 | RERE | c.2888T>G (p.Leu963Arg) c.4550T>G (p.Leu1517Arg) c.3746T>G (p.Leu1249Arg) c.1604T>G (p.Leu535Arg) c.518T>G (p.Leu173Arg) c.4424T>G (p.Leu1475Arg) | |
| 1 | g.8355536A>G | CA338168243 | RERE | c.2888T>C (p.Leu963Pro) c.4550T>C (p.Leu1517Pro) c.3746T>C (p.Leu1249Pro) c.1604T>C (p.Leu535Pro) c.518T>C (p.Leu173Pro) c.4424T>C (p.Leu1475Pro) | gnomAD v4 |
| 1 | g.8355536A>T | CA338168244 | RERE | c.2888T>A (p.Leu963Gln) c.4550T>A (p.Leu1517Gln) c.3746T>A (p.Leu1249Gln) c.1604T>A (p.Leu535Gln) c.518T>A (p.Leu173Gln) c.4424T>A (p.Leu1475Gln) | ClinVar dbSNP |
| 1 | g.8355537G>A | CA415842043 | RERE | c.2887C>T (p.Leu963=) c.4549C>T (p.Leu1517=) c.3745C>T (p.Leu1249=) c.1603C>T (p.Leu535=) c.517C>T (p.Leu173=) c.4423C>T (p.Leu1475=) | dbSNP |
| 1 | g.8355537G>C | CA338168245 | RERE | c.2887C>G (p.Leu963Val) c.4549C>G (p.Leu1517Val) c.3745C>G (p.Leu1249Val) c.1603C>G (p.Leu535Val) c.517C>G (p.Leu173Val) c.4423C>G (p.Leu1475Val) | |
| 1 | g.8355537G= | CA1152318876 | RERE | c.2887C= (p.Leu963=) c.4549C= (p.Leu1517=) c.3745C= (p.Leu1249=) c.1603C= (p.Leu535=) c.517C= (p.Leu173=) c.4423C= (p.Leu1475=) | |
| 1 | g.8355537G>T | CA338168246 | RERE | c.2887C>A (p.Leu963Met) c.4549C>A (p.Leu1517Met) c.3745C>A (p.Leu1249Met) c.1603C>A (p.Leu535Met) c.517C>A (p.Leu173Met) c.4423C>A (p.Leu1475Met) | |
| 1 | g.8355538C>A | CA338168247 | RERE | c.2886G>T (p.Gln962His) c.4548G>T (p.Gln1516His) c.3744G>T (p.Gln1248His) c.1602G>T (p.Gln534His) c.516G>T (p.Gln172His) c.4422G>T (p.Gln1474His) | |
| 1 | g.8355538C>G | CA338168248 | RERE | c.2886G>C (p.Gln962His) c.4548G>C (p.Gln1516His) c.3744G>C (p.Gln1248His) c.1602G>C (p.Gln534His) c.516G>C (p.Gln172His) c.4422G>C (p.Gln1474His) | |
| 1 | g.8355538C>T | CA415842047 | RERE | c.2886G>A (p.Gln962=) c.4548G>A (p.Gln1516=) c.3744G>A (p.Gln1248=) c.1602G>A (p.Gln534=) c.516G>A (p.Gln172=) c.4422G>A (p.Gln1474=) | gnomAD v4 |
| 1 | g.8355539T>A | CA338168249 | RERE | c.2885A>T (p.Gln962Leu) c.4547A>T (p.Gln1516Leu) c.3743A>T (p.Gln1248Leu) c.1601A>T (p.Gln534Leu) c.515A>T (p.Gln172Leu) c.4421A>T (p.Gln1474Leu) | |
| 1 | g.8355539T>C | CA338168250 | RERE | c.2885A>G (p.Gln962Arg) c.4547A>G (p.Gln1516Arg) c.3743A>G (p.Gln1248Arg) c.1601A>G (p.Gln534Arg) c.515A>G (p.Gln172Arg) c.4421A>G (p.Gln1474Arg) | |
| 1 | g.8355539T>G | CA338168251 | RERE | c.2885A>C (p.Gln962Pro) c.4547A>C (p.Gln1516Pro) c.3743A>C (p.Gln1248Pro) c.1601A>C (p.Gln534Pro) c.515A>C (p.Gln172Pro) c.4421A>C (p.Gln1474Pro) | gnomAD v4 |
| 1 | g.8355540G>A | CA338168252 | RERE | c.2884C>T (p.Gln962Ter) c.4546C>T (p.Gln1516Ter) c.3742C>T (p.Gln1248Ter) c.1600C>T (p.Gln534Ter) c.514C>T (p.Gln172Ter) c.4420C>T (p.Gln1474Ter) | |
| 1 | g.8355540G>C | CA338168253 | RERE | c.2884C>G (p.Gln962Glu) c.4546C>G (p.Gln1516Glu) c.3742C>G (p.Gln1248Glu) c.1600C>G (p.Gln534Glu) c.514C>G (p.Gln172Glu) c.4420C>G (p.Gln1474Glu) | |
| 1 | g.8355540G>T | CA338168254 | RERE | c.2884C>A (p.Gln962Lys) c.4546C>A (p.Gln1516Lys) c.3742C>A (p.Gln1248Lys) c.1600C>A (p.Gln534Lys) c.514C>A (p.Gln172Lys) c.4420C>A (p.Gln1474Lys) | gnomAD v4 |
| 1 | g.8355541G>A | CA570744 | RERE | c.2883C>T (p.His961=) c.4545C>T (p.His1515=) c.3741C>T (p.His1247=) c.1599C>T (p.His533=) c.513C>T (p.His171=) c.4419C>T (p.His1473=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.8355541G>C | CA338168255 | RERE | c.2883C>G (p.His961Gln) c.4545C>G (p.His1515Gln) c.3741C>G (p.His1247Gln) c.1599C>G (p.His533Gln) c.513C>G (p.His171Gln) c.4419C>G (p.His1473Gln) | |
| 1 | g.8355541G= | CA1152318877 | RERE | c.2883C= (p.His961=) c.4545C= (p.His1515=) c.3741C= (p.His1247=) c.1599C= (p.His533=) c.513C= (p.His171=) c.4419C= (p.His1473=) | |
| 1 | g.8355541G>T | CA338168256 | RERE | c.2883C>A (p.His961Gln) c.4545C>A (p.His1515Gln) c.3741C>A (p.His1247Gln) c.1599C>A (p.His533Gln) c.513C>A (p.His171Gln) c.4419C>A (p.His1473Gln) | gnomAD v4 |
| 1 | g.8355542T>A | CA338168259 | RERE | c.2882A>T (p.His961Leu) c.4544A>T (p.His1515Leu) c.3740A>T (p.His1247Leu) c.1598A>T (p.His533Leu) c.512A>T (p.His171Leu) c.4418A>T (p.His1473Leu) | |
| 1 | g.8355542T>C | CA338168258 | RERE | c.2882A>G (p.His961Arg) c.4544A>G (p.His1515Arg) c.3740A>G (p.His1247Arg) c.1598A>G (p.His533Arg) c.512A>G (p.His171Arg) c.4418A>G (p.His1473Arg) | |
| 1 | g.8355542T>G | CA338168257 | RERE | c.2882A>C (p.His961Pro) c.4544A>C (p.His1515Pro) c.3740A>C (p.His1247Pro) c.1598A>C (p.His533Pro) c.512A>C (p.His171Pro) c.4418A>C (p.His1473Pro) | gnomAD v4 |
| 1 | g.8355543G>A | CA338168260 | RERE | c.2881C>T (p.His961Tyr) c.4543C>T (p.His1515Tyr) c.3739C>T (p.His1247Tyr) c.1597C>T (p.His533Tyr) c.511C>T (p.His171Tyr) c.4417C>T (p.His1473Tyr) | |
| 1 | g.8355543G>C | CA338168262 | RERE | c.2881C>G (p.His961Asp) c.4543C>G (p.His1515Asp) c.3739C>G (p.His1247Asp) c.1597C>G (p.His533Asp) c.511C>G (p.His171Asp) c.4417C>G (p.His1473Asp) | |
| 1 | g.8355543G>T | CA338168261 | RERE | c.2881C>A (p.His961Asn) c.4543C>A (p.His1515Asn) c.3739C>A (p.His1247Asn) c.1597C>A (p.His533Asn) c.511C>A (p.His171Asn) c.4417C>A (p.His1473Asn) | |
| 1 | g.8355544G>A | CA415842066 | RERE | c.2880C>T (p.Ala960=) c.4542C>T (p.Ala1514=) c.3738C>T (p.Ala1246=) c.1596C>T (p.Ala532=) c.510C>T (p.Ala170=) c.4416C>T (p.Ala1472=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.8355544G>C | CA415842067 | RERE | c.2880C>G (p.Ala960=) c.4542C>G (p.Ala1514=) c.3738C>G (p.Ala1246=) c.1596C>G (p.Ala532=) c.510C>G (p.Ala170=) c.4416C>G (p.Ala1472=) | gnomAD v4 |
| 1 | g.8355544G= | CA1152318878 | RERE | c.2880C= (p.Ala960=) c.4542C= (p.Ala1514=) c.3738C= (p.Ala1246=) c.1596C= (p.Ala532=) c.510C= (p.Ala170=) c.4416C= (p.Ala1472=) | |
| 1 | g.8355544G>T | CA415842069 | RERE | c.2880C>A (p.Ala960=) c.4542C>A (p.Ala1514=) c.3738C>A (p.Ala1246=) c.1596C>A (p.Ala532=) c.510C>A (p.Ala170=) c.4416C>A (p.Ala1472=) | |
| 1 | g.8355545G>A | CA338168263 | RERE | c.2879C>T (p.Ala960Val) c.4541C>T (p.Ala1514Val) c.3737C>T (p.Ala1246Val) c.1595C>T (p.Ala532Val) c.509C>T (p.Ala170Val) c.4415C>T (p.Ala1472Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.8355545G>C | CA338168264 | RERE | c.2879C>G (p.Ala960Gly) c.4541C>G (p.Ala1514Gly) c.3737C>G (p.Ala1246Gly) c.1595C>G (p.Ala532Gly) c.509C>G (p.Ala170Gly) c.4415C>G (p.Ala1472Gly) | |
| 1 | g.8355545G= | CA1152318879 | RERE | c.2879C= (p.Ala960=) c.4541C= (p.Ala1514=) c.3737C= (p.Ala1246=) c.1595C= (p.Ala532=) c.509C= (p.Ala170=) c.4415C= (p.Ala1472=) | |
| 1 | g.8355545G>T | CA338168265 | RERE | c.2879C>A (p.Ala960Asp) c.4541C>A (p.Ala1514Asp) c.3737C>A (p.Ala1246Asp) c.1595C>A (p.Ala532Asp) c.509C>A (p.Ala170Asp) c.4415C>A (p.Ala1472Asp) | |
| 1 | g.8355546C>A | CA338168266 | RERE | c.2878G>T (p.Ala960Ser) c.4540G>T (p.Ala1514Ser) c.3736G>T (p.Ala1246Ser) c.1594G>T (p.Ala532Ser) c.508G>T (p.Ala170Ser) c.4414G>T (p.Ala1472Ser) | gnomAD v4 |
| 1 | g.8355546C>G | CA338168267 | RERE | c.2878G>C (p.Ala960Pro) c.4540G>C (p.Ala1514Pro) c.3736G>C (p.Ala1246Pro) c.1594G>C (p.Ala532Pro) c.508G>C (p.Ala170Pro) c.4414G>C (p.Ala1472Pro) | |
| 1 | g.8355546C>T | CA338168268 | RERE | c.2878G>A (p.Ala960Thr) c.4540G>A (p.Ala1514Thr) c.3736G>A (p.Ala1246Thr) c.1594G>A (p.Ala532Thr) c.508G>A (p.Ala170Thr) c.4414G>A (p.Ala1472Thr) | gnomAD v4 |
| 1 | g.8355547T>A | CA415842075 | RERE | c.2877A>T (p.Ala959=) c.4539A>T (p.Ala1513=) c.3735A>T (p.Ala1245=) c.1593A>T (p.Ala531=) c.507A>T (p.Ala169=) c.4413A>T (p.Ala1471=) | |
| 1 | g.8355547T>C | CA415842076 | RERE | c.2877A>G (p.Ala959=) c.4539A>G (p.Ala1513=) c.3735A>G (p.Ala1245=) c.1593A>G (p.Ala531=) c.507A>G (p.Ala169=) c.4413A>G (p.Ala1471=) | gnomAD v4 |
| 1 | g.8355547T>G | CA415842077 | RERE | c.2877A>C (p.Ala959=) c.4539A>C (p.Ala1513=) c.3735A>C (p.Ala1245=) c.1593A>C (p.Ala531=) c.507A>C (p.Ala169=) c.4413A>C (p.Ala1471=) | gnomAD v4 |
| 1 | g.8355548G>A | CA338168271 | RERE | c.2876C>T (p.Ala959Val) c.4538C>T (p.Ala1513Val) c.3734C>T (p.Ala1245Val) c.1592C>T (p.Ala531Val) c.506C>T (p.Ala169Val) c.4412C>T (p.Ala1471Val) | ClinVar gnomAD v4 |
| 1 | g.8355548G>C | CA338168270 | RERE | c.2876C>G (p.Ala959Gly) c.4538C>G (p.Ala1513Gly) c.3734C>G (p.Ala1245Gly) c.1592C>G (p.Ala531Gly) c.506C>G (p.Ala169Gly) c.4412C>G (p.Ala1471Gly) | |
| 1 | g.8355548G>T | CA338168269 | RERE | c.2876C>A (p.Ala959Glu) c.4538C>A (p.Ala1513Glu) c.3734C>A (p.Ala1245Glu) c.1592C>A (p.Ala531Glu) c.506C>A (p.Ala169Glu) c.4412C>A (p.Ala1471Glu) | gnomAD v4 |
| 1 | g.8355549C>A | CA338168272 | RERE | c.2875G>T (p.Ala959Ser) c.4537G>T (p.Ala1513Ser) c.3733G>T (p.Ala1245Ser) c.1591G>T (p.Ala531Ser) c.505G>T (p.Ala169Ser) c.4411G>T (p.Ala1471Ser) | gnomAD v4 |
| 1 | g.8355549C>G | CA338168273 | RERE | c.2875G>C (p.Ala959Pro) c.4537G>C (p.Ala1513Pro) c.3733G>C (p.Ala1245Pro) c.1591G>C (p.Ala531Pro) c.505G>C (p.Ala169Pro) c.4411G>C (p.Ala1471Pro) | gnomAD v4 |
| 1 | g.8355549C>T | CA338168274 | RERE | c.2875G>A (p.Ala959Thr) c.4537G>A (p.Ala1513Thr) c.3733G>A (p.Ala1245Thr) c.1591G>A (p.Ala531Thr) c.505G>A (p.Ala169Thr) c.4411G>A (p.Ala1471Thr) | gnomAD v4 |
| 1 | g.8355550T>A | CA415842078 | RERE | c.2874A>T (p.Ser958=) c.4536A>T (p.Ser1512=) c.3732A>T (p.Ser1244=) c.1590A>T (p.Ser530=) c.504A>T (p.Ser168=) c.4410A>T (p.Ser1470=) | |
| 1 | g.8355550T>C | CA415842080 | RERE | c.2874A>G (p.Ser958=) c.4536A>G (p.Ser1512=) c.3732A>G (p.Ser1244=) c.1590A>G (p.Ser530=) c.504A>G (p.Ser168=) c.4410A>G (p.Ser1470=) | |
| 1 | g.8355550T>G | CA415842079 | RERE | c.2874A>C (p.Ser958=) c.4536A>C (p.Ser1512=) c.3732A>C (p.Ser1244=) c.1590A>C (p.Ser530=) c.504A>C (p.Ser168=) c.4410A>C (p.Ser1470=) | gnomAD v3 gnomAD v4 |
| 1 | g.8355551G>A | CA338168275 | RERE | c.2873C>T (p.Ser958Leu) c.4535C>T (p.Ser1512Leu) c.3731C>T (p.Ser1244Leu) c.1589C>T (p.Ser530Leu) c.503C>T (p.Ser168Leu) c.4409C>T (p.Ser1470Leu) | COSMIC |
| 1 | g.8355551G>C | CA338168276 | RERE | c.2873C>G (p.Ser958Ter) c.4535C>G (p.Ser1512Ter) c.3731C>G (p.Ser1244Ter) c.1589C>G (p.Ser530Ter) c.503C>G (p.Ser168Ter) c.4409C>G (p.Ser1470Ter) | |
| 1 | g.8355551G>T | CA338168277 | RERE | c.2873C>A (p.Ser958Ter) c.4535C>A (p.Ser1512Ter) c.3731C>A (p.Ser1244Ter) c.1589C>A (p.Ser530Ter) c.503C>A (p.Ser168Ter) c.4409C>A (p.Ser1470Ter) | gnomAD v4 |
| 1 | g.8355552A= | CA1152318880 | RERE | c.2872T= (p.Ser958=) c.4534T= (p.Ser1512=) c.3730T= (p.Ser1244=) c.1588T= (p.Ser530=) c.502T= (p.Ser168=) c.4408T= (p.Ser1470=) | |
| 1 | g.8355552A>C | CA338168278 | RERE | c.2872T>G (p.Ser958Ala) c.4534T>G (p.Ser1512Ala) c.3730T>G (p.Ser1244Ala) c.1588T>G (p.Ser530Ala) c.502T>G (p.Ser168Ala) c.4408T>G (p.Ser1470Ala) | |
| 1 | g.8355552A>G | CA570745 | RERE | c.2872T>C (p.Ser958Pro) c.4534T>C (p.Ser1512Pro) c.3730T>C (p.Ser1244Pro) c.1588T>C (p.Ser530Pro) c.502T>C (p.Ser168Pro) c.4408T>C (p.Ser1470Pro) | dbSNP ExAC gnomAD v2 COSMIC |
| 1 | g.8355552A>T | CA338168279 | RERE | c.2872T>A (p.Ser958Thr) c.4534T>A (p.Ser1512Thr) c.3730T>A (p.Ser1244Thr) c.1588T>A (p.Ser530Thr) c.502T>A (p.Ser168Thr) c.4408T>A (p.Ser1470Thr) | |
| 1 | g.8355553C>A | CA338168280 | RERE | c.2871G>T (p.Met957Ile) c.4533G>T (p.Met1511Ile) c.3729G>T (p.Met1243Ile) c.1587G>T (p.Met529Ile) c.501G>T (p.Met167Ile) c.4407G>T (p.Met1469Ile) | gnomAD v4 |
| 1 | g.8355553C= | CA1152318881 | RERE | c.2871G= (p.Met957=) c.4533G= (p.Met1511=) c.3729G= (p.Met1243=) c.1587G= (p.Met529=) c.501G= (p.Met167=) c.4407G= (p.Met1469=) | |
| 1 | g.8355553C>G | CA338168281 | RERE | c.2871G>C (p.Met957Ile) c.4533G>C (p.Met1511Ile) c.3729G>C (p.Met1243Ile) c.1587G>C (p.Met529Ile) c.501G>C (p.Met167Ile) c.4407G>C (p.Met1469Ile) | gnomAD v4 |
| 1 | g.8355553C>T | CA570746 | RERE | c.2871G>A (p.Met957Ile) c.4533G>A (p.Met1511Ile) c.3729G>A (p.Met1243Ile) c.1587G>A (p.Met529Ile) c.501G>A (p.Met167Ile) c.4407G>A (p.Met1469Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.8355554A>C | CA338168282 | RERE | c.2870T>G (p.Met957Arg) c.4532T>G (p.Met1511Arg) c.3728T>G (p.Met1243Arg) c.1586T>G (p.Met529Arg) c.500T>G (p.Met167Arg) c.4406T>G (p.Met1469Arg) | |
| 1 | g.8355554A>G | CA338168283 | RERE | c.2870T>C (p.Met957Thr) c.4532T>C (p.Met1511Thr) c.3728T>C (p.Met1243Thr) c.1586T>C (p.Met529Thr) c.500T>C (p.Met167Thr) c.4406T>C (p.Met1469Thr) | ClinVar gnomAD v4 |
| 1 | g.8355554A>T | CA338168284 | RERE | c.2870T>A (p.Met957Lys) c.4532T>A (p.Met1511Lys) c.3728T>A (p.Met1243Lys) c.1586T>A (p.Met529Lys) c.500T>A (p.Met167Lys) c.4406T>A (p.Met1469Lys) | gnomAD v4 |
| 1 | g.8355555T>A | CA338168285 | RERE | c.2869A>T (p.Met957Leu) c.4531A>T (p.Met1511Leu) c.3727A>T (p.Met1243Leu) c.1585A>T (p.Met529Leu) c.499A>T (p.Met167Leu) c.4405A>T (p.Met1469Leu) | gnomAD v4 |
| 1 | g.8355555T>C | CA338168286 | RERE | c.2869A>G (p.Met957Val) c.4531A>G (p.Met1511Val) c.3727A>G (p.Met1243Val) c.1585A>G (p.Met529Val) c.499A>G (p.Met167Val) c.4405A>G (p.Met1469Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.8355555T>G | CA338168287 | RERE | c.2869A>C (p.Met957Leu) c.4531A>C (p.Met1511Leu) c.3727A>C (p.Met1243Leu) c.1585A>C (p.Met529Leu) c.499A>C (p.Met167Leu) c.4405A>C (p.Met1469Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.8355555T= | CA1152318882 | RERE | c.2869A= (p.Met957=) c.4531A= (p.Met1511=) c.3727A= (p.Met1243=) c.1585A= (p.Met529=) c.499A= (p.Met167=) c.4405A= (p.Met1469=) | |
| 1 | g.8355556G>A | CA415842082 | RERE | c.2868C>T (p.Pro956=) c.4530C>T (p.Pro1510=) c.3726C>T (p.Pro1242=) c.1584C>T (p.Pro528=) c.498C>T (p.Pro166=) c.4404C>T (p.Pro1468=) | |
| 1 | g.8355556G>C | CA570748 | RERE | c.2868C>G (p.Pro956=) c.4530C>G (p.Pro1510=) c.3726C>G (p.Pro1242=) c.1584C>G (p.Pro528=) c.498C>G (p.Pro166=) c.4404C>G (p.Pro1468=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.8355556G= | CA1152318884 | RERE | c.2868C= (p.Pro956=) c.4530C= (p.Pro1510=) c.3726C= (p.Pro1242=) c.1584C= (p.Pro528=) c.498C= (p.Pro166=) c.4404C= (p.Pro1468=) | |
| 1 | g.8355556G>T | CA570747 | RERE | c.2868C>A (p.Pro956=) c.4530C>A (p.Pro1510=) c.3726C>A (p.Pro1242=) c.1584C>A (p.Pro528=) c.498C>A (p.Pro166=) c.4404C>A (p.Pro1468=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.8355561dup | CA1152318883 | RERE | c.2868dup (p.Met957HisfsTer?) c.4530dup (p.Met1511HisfsTer?) c.3726dup (p.Met1243HisfsTer?) c.1584dup (p.Met529HisfsTer?) c.498dup (p.Met167HisfsTer?) c.4404dup (p.Met1469HisfsTer?) | dbSNP gnomAD v4 |
| 1 | g.8355561del | CA2643072837 | RERE | c.2868del (p.Met957CysfsTer?) c.4530del (p.Met1511CysfsTer?) c.3726del (p.Met1243CysfsTer?) c.1584del (p.Met529CysfsTer?) c.498del (p.Met167CysfsTer?) c.4404del (p.Met1469CysfsTer?) | gnomAD v4 |
| 1 | g.8355557G>A | CA338168288 | RERE | c.2867C>T (p.Pro956Leu) c.4529C>T (p.Pro1510Leu) c.3725C>T (p.Pro1242Leu) c.1583C>T (p.Pro528Leu) c.497C>T (p.Pro166Leu) c.4403C>T (p.Pro1468Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.8355557G>C | CA338168290 | RERE | c.2867C>G (p.Pro956Arg) c.4529C>G (p.Pro1510Arg) c.3725C>G (p.Pro1242Arg) c.1583C>G (p.Pro528Arg) c.497C>G (p.Pro166Arg) c.4403C>G (p.Pro1468Arg) | gnomAD v4 |
| 1 | g.8355557G= | CA1152318885 | RERE | c.2867C= (p.Pro956=) c.4529C= (p.Pro1510=) c.3725C= (p.Pro1242=) c.1583C= (p.Pro528=) c.497C= (p.Pro166=) c.4403C= (p.Pro1468=) | |
| 1 | g.8355557G>T | CA338168289 | RERE | c.2867C>A (p.Pro956His) c.4529C>A (p.Pro1510His) c.3725C>A (p.Pro1242His) c.1583C>A (p.Pro528His) c.497C>A (p.Pro166His) c.4403C>A (p.Pro1468His) | gnomAD v4 |
| 1 | g.8355558G>A | CA338168291 | RERE | c.2866C>T (p.Pro956Ser) c.4528C>T (p.Pro1510Ser) c.3724C>T (p.Pro1242Ser) c.1582C>T (p.Pro528Ser) c.496C>T (p.Pro166Ser) c.4402C>T (p.Pro1468Ser) | gnomAD v4 |
| 1 | g.8355558G>C | CA570750 | RERE | c.2866C>G (p.Pro956Ala) c.4528C>G (p.Pro1510Ala) c.3724C>G (p.Pro1242Ala) c.1582C>G (p.Pro528Ala) c.496C>G (p.Pro166Ala) c.4402C>G (p.Pro1468Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.8355558G= | CA1141494607 | RERE | c.2866C= (p.Pro956=) c.4528C= (p.Pro1510=) c.3724C= (p.Pro1242=) c.1582C= (p.Pro528=) c.496C= (p.Pro166=) c.4402C= (p.Pro1468=) | |
| 1 | g.8355558G>T | CA570749 | RERE | c.2866C>A (p.Pro956Thr) c.4528C>A (p.Pro1510Thr) c.3724C>A (p.Pro1242Thr) c.1582C>A (p.Pro528Thr) c.496C>A (p.Pro166Thr) c.4402C>A (p.Pro1468Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.8355559G>A | CA415842083 | RERE | c.2865C>T (p.Pro955=) c.4527C>T (p.Pro1509=) c.3723C>T (p.Pro1241=) c.1581C>T (p.Pro527=) c.495C>T (p.Pro165=) c.4401C>T (p.Pro1467=) | dbSNP |
| 1 | g.8355559G>C | CA415842084 | RERE | c.2865C>G (p.Pro955=) c.4527C>G (p.Pro1509=) c.3723C>G (p.Pro1241=) c.1581C>G (p.Pro527=) c.495C>G (p.Pro165=) c.4401C>G (p.Pro1467=) | gnomAD v4 |
| 1 | g.8355559G= | CA1152318886 | RERE | c.2865C= (p.Pro955=) c.4527C= (p.Pro1509=) c.3723C= (p.Pro1241=) c.1581C= (p.Pro527=) c.495C= (p.Pro165=) c.4401C= (p.Pro1467=) | |
| 1 | g.8355559G>T | CA415842085 | RERE | c.2865C>A (p.Pro955=) c.4527C>A (p.Pro1509=) c.3723C>A (p.Pro1241=) c.1581C>A (p.Pro527=) c.495C>A (p.Pro165=) c.4401C>A (p.Pro1467=) | |
| 1 | g.8355560G>A | CA338168292 | RERE | c.2864C>T (p.Pro955Leu) c.4526C>T (p.Pro1509Leu) c.3722C>T (p.Pro1241Leu) c.1580C>T (p.Pro527Leu) c.494C>T (p.Pro165Leu) c.4400C>T (p.Pro1467Leu) | gnomAD v4 |
| 1 | g.8355560G>C | CA338168293 | RERE | c.2864C>G (p.Pro955Arg) c.4526C>G (p.Pro1509Arg) c.3722C>G (p.Pro1241Arg) c.1580C>G (p.Pro527Arg) c.494C>G (p.Pro165Arg) c.4400C>G (p.Pro1467Arg) | |
| 1 | g.8355560G>T | CA338168294 | RERE | c.2864C>A (p.Pro955His) c.4526C>A (p.Pro1509His) c.3722C>A (p.Pro1241His) c.1580C>A (p.Pro527His) c.494C>A (p.Pro165His) c.4400C>A (p.Pro1467His) | |
| 1 | g.8355561G>A | CA338168295 | RERE | c.2863C>T (p.Pro955Ser) c.4525C>T (p.Pro1509Ser) c.3721C>T (p.Pro1241Ser) c.1579C>T (p.Pro527Ser) c.493C>T (p.Pro165Ser) c.4399C>T (p.Pro1467Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.8355561G>C | CA338168296 | RERE | c.2863C>G (p.Pro955Ala) c.4525C>G (p.Pro1509Ala) c.3721C>G (p.Pro1241Ala) c.1579C>G (p.Pro527Ala) c.493C>G (p.Pro165Ala) c.4399C>G (p.Pro1467Ala) | |
| 1 | g.8355561G= | CA1152318887 | RERE | c.2863C= (p.Pro955=) c.4525C= (p.Pro1509=) c.3721C= (p.Pro1241=) c.1579C= (p.Pro527=) c.493C= (p.Pro165=) c.4399C= (p.Pro1467=) | |
| 1 | g.8355561G>T | CA338168297 | RERE | c.2863C>A (p.Pro955Thr) c.4525C>A (p.Pro1509Thr) c.3721C>A (p.Pro1241Thr) c.1579C>A (p.Pro527Thr) c.493C>A (p.Pro165Thr) c.4399C>A (p.Pro1467Thr) | gnomAD v4 |
| 1 | g.8355562T>A | CA415842086 | RERE | c.2862A>T (p.Pro954=) c.4524A>T (p.Pro1508=) c.3720A>T (p.Pro1240=) c.1578A>T (p.Pro526=) c.492A>T (p.Pro164=) c.4398A>T (p.Pro1466=) | |
| 1 | g.8355562T>C | CA415842088 | RERE | c.2862A>G (p.Pro954=) c.4524A>G (p.Pro1508=) c.3720A>G (p.Pro1240=) c.1578A>G (p.Pro526=) c.492A>G (p.Pro164=) c.4398A>G (p.Pro1466=) | |
| 1 | g.8355562T>G | CA415842087 | RERE | c.2862A>C (p.Pro954=) c.4524A>C (p.Pro1508=) c.3720A>C (p.Pro1240=) c.1578A>C (p.Pro526=) c.492A>C (p.Pro164=) c.4398A>C (p.Pro1466=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.8355562T= | CA1152318888 | RERE | c.2862A= (p.Pro954=) c.4524A= (p.Pro1508=) c.3720A= (p.Pro1240=) c.1578A= (p.Pro526=) c.492A= (p.Pro164=) c.4398A= (p.Pro1466=) | |
| 1 | g.8355563G>A | CA338168298 | RERE | c.2861C>T (p.Pro954Leu) c.4523C>T (p.Pro1508Leu) c.3719C>T (p.Pro1240Leu) c.1577C>T (p.Pro526Leu) c.491C>T (p.Pro164Leu) c.4397C>T (p.Pro1466Leu) | |
| 1 | g.8355563G>C | CA338168299 | RERE | c.2861C>G (p.Pro954Arg) c.4523C>G (p.Pro1508Arg) c.3719C>G (p.Pro1240Arg) c.1577C>G (p.Pro526Arg) c.491C>G (p.Pro164Arg) c.4397C>G (p.Pro1466Arg) | |
| 1 | g.8355563G>T | CA338168300 | RERE | c.2861C>A (p.Pro954Gln) c.4523C>A (p.Pro1508Gln) c.3719C>A (p.Pro1240Gln) c.1577C>A (p.Pro526Gln) c.491C>A (p.Pro164Gln) c.4397C>A (p.Pro1466Gln) | |
| 1 | g.8355565del | CA2643072838 | RERE | c.2861del (p.Pro954HisfsTer?) c.4523del (p.Pro1508HisfsTer?) c.3719del (p.Pro1240HisfsTer?) c.1577del (p.Pro526HisfsTer?) c.491del (p.Pro164HisfsTer?) c.4397del (p.Pro1466HisfsTer?) | gnomAD v4 |
| 1 | g.8355564G>A | CA338168303 | RERE | c.2860C>T (p.Pro954Ser) c.4522C>T (p.Pro1508Ser) c.3718C>T (p.Pro1240Ser) c.1576C>T (p.Pro526Ser) c.490C>T (p.Pro164Ser) c.4396C>T (p.Pro1466Ser) | |
| 1 | g.8355564G>C | CA338168301 | RERE | c.2860C>G (p.Pro954Ala) c.4522C>G (p.Pro1508Ala) c.3718C>G (p.Pro1240Ala) c.1576C>G (p.Pro526Ala) c.490C>G (p.Pro164Ala) c.4396C>G (p.Pro1466Ala) | |
| 1 | g.8355564G>T | CA338168302 | RERE | c.2860C>A (p.Pro954Thr) c.4522C>A (p.Pro1508Thr) c.3718C>A (p.Pro1240Thr) c.1576C>A (p.Pro526Thr) c.490C>A (p.Pro164Thr) c.4396C>A (p.Pro1466Thr) | |
| 1 | g.8355565G>A | CA415842089 | RERE | c.2859C>T (p.Ile953=) c.4521C>T (p.Ile1507=) c.3717C>T (p.Ile1239=) c.1575C>T (p.Ile525=) c.489C>T (p.Ile163=) c.4395C>T (p.Ile1465=) | |
| 1 | g.8355565G>C | CA338168304 | RERE | c.2859C>G (p.Ile953Met) c.4521C>G (p.Ile1507Met) c.3717C>G (p.Ile1239Met) c.1575C>G (p.Ile525Met) c.489C>G (p.Ile163Met) c.4395C>G (p.Ile1465Met) | |
| 1 | g.8355565G>T | CA415842090 | RERE | c.2859C>A (p.Ile953=) c.4521C>A (p.Ile1507=) c.3717C>A (p.Ile1239=) c.1575C>A (p.Ile525=) c.489C>A (p.Ile163=) c.4395C>A (p.Ile1465=) | |
| 1 | g.8355566A>C | CA338168305 | RERE | c.2858T>G (p.Ile953Ser) c.4520T>G (p.Ile1507Ser) c.3716T>G (p.Ile1239Ser) c.1574T>G (p.Ile525Ser) c.488T>G (p.Ile163Ser) c.4394T>G (p.Ile1465Ser) | |
| 1 | g.8355566A>G | CA338168306 | RERE | c.2858T>C (p.Ile953Thr) c.4520T>C (p.Ile1507Thr) c.3716T>C (p.Ile1239Thr) c.1574T>C (p.Ile525Thr) c.488T>C (p.Ile163Thr) c.4394T>C (p.Ile1465Thr) | |
| 1 | g.8355566A>T | CA338168307 | RERE | c.2858T>A (p.Ile953Asn) c.4520T>A (p.Ile1507Asn) c.3716T>A (p.Ile1239Asn) c.1574T>A (p.Ile525Asn) c.488T>A (p.Ile163Asn) c.4394T>A (p.Ile1465Asn) | |
| 1 | g.8355567T>A | CA338168308 | RERE | c.2857A>T (p.Ile953Phe) c.4519A>T (p.Ile1507Phe) c.3715A>T (p.Ile1239Phe) c.1573A>T (p.Ile525Phe) c.487A>T (p.Ile163Phe) c.4393A>T (p.Ile1465Phe) | |
| 1 | g.8355567T>C | CA570751 | RERE | c.2857A>G (p.Ile953Val) c.4519A>G (p.Ile1507Val) c.3715A>G (p.Ile1239Val) c.1573A>G (p.Ile525Val) c.487A>G (p.Ile163Val) c.4393A>G (p.Ile1465Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.8355567T>G | CA338168309 | RERE | c.2857A>C (p.Ile953Leu) c.4519A>C (p.Ile1507Leu) c.3715A>C (p.Ile1239Leu) c.1573A>C (p.Ile525Leu) c.487A>C (p.Ile163Leu) c.4393A>C (p.Ile1465Leu) | gnomAD v4 |
| 1 | g.8355567T= | CA1142097729 | RERE | c.2857A= (p.Ile953=) c.4519A= (p.Ile1507=) c.3715A= (p.Ile1239=) c.1573A= (p.Ile525=) c.487A= (p.Ile163=) c.4393A= (p.Ile1465=) | |
| 1 | g.8355568G>A | CA570752 | RERE | c.2856C>T (p.Ala952=) c.4518C>T (p.Ala1506=) c.3714C>T (p.Ala1238=) c.1572C>T (p.Ala524=) c.486C>T (p.Ala162=) c.4392C>T (p.Ala1464=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.8355568G>C | CA415842091 | RERE | c.2856C>G (p.Ala952=) c.4518C>G (p.Ala1506=) c.3714C>G (p.Ala1238=) c.1572C>G (p.Ala524=) c.486C>G (p.Ala162=) c.4392C>G (p.Ala1464=) | |
| 1 | g.8355568G= | CA1152318889 | RERE | c.2856C= (p.Ala952=) c.4518C= (p.Ala1506=) c.3714C= (p.Ala1238=) c.1572C= (p.Ala524=) c.486C= (p.Ala162=) c.4392C= (p.Ala1464=) | |
| 1 | g.8355568G>T | CA415842092 | RERE | c.2856C>A (p.Ala952=) c.4518C>A (p.Ala1506=) c.3714C>A (p.Ala1238=) c.1572C>A (p.Ala524=) c.486C>A (p.Ala162=) c.4392C>A (p.Ala1464=) | gnomAD v4 |
| 1 | g.8355569G>A | CA570753 | RERE | c.2855C>T (p.Ala952Val) c.4517C>T (p.Ala1506Val) c.3713C>T (p.Ala1238Val) c.1571C>T (p.Ala524Val) c.485C>T (p.Ala162Val) c.4391C>T (p.Ala1464Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.8355569G>C | CA338168310 | RERE | c.2855C>G (p.Ala952Gly) c.4517C>G (p.Ala1506Gly) c.3713C>G (p.Ala1238Gly) c.1571C>G (p.Ala524Gly) c.485C>G (p.Ala162Gly) c.4391C>G (p.Ala1464Gly) | |
| 1 | g.8355569G= | CA1146365366 | RERE | c.2855C= (p.Ala952=) c.4517C= (p.Ala1506=) c.3713C= (p.Ala1238=) c.1571C= (p.Ala524=) c.485C= (p.Ala162=) c.4391C= (p.Ala1464=) | |
| 1 | g.8355569G>T | CA338168311 | RERE | c.2855C>A (p.Ala952Asp) c.4517C>A (p.Ala1506Asp) c.3713C>A (p.Ala1238Asp) c.1571C>A (p.Ala524Asp) c.485C>A (p.Ala162Asp) c.4391C>A (p.Ala1464Asp) | gnomAD v4 |
| 1 | g.8355570C>A | CA338168313 | RERE | c.2854G>T (p.Ala952Ser) c.4516G>T (p.Ala1506Ser) c.3712G>T (p.Ala1238Ser) c.1570G>T (p.Ala524Ser) c.484G>T (p.Ala162Ser) c.4390G>T (p.Ala1464Ser) | |
| 1 | g.8355570C= | CA1149039647 | RERE | c.2854G= (p.Ala952=) c.4516G= (p.Ala1506=) c.3712G= (p.Ala1238=) c.1570G= (p.Ala524=) c.484G= (p.Ala162=) c.4390G= (p.Ala1464=) | |
| 1 | g.8355570C>G | CA338168312 | RERE | c.2854G>C (p.Ala952Pro) c.4516G>C (p.Ala1506Pro) c.3712G>C (p.Ala1238Pro) c.1570G>C (p.Ala524Pro) c.484G>C (p.Ala162Pro) c.4390G>C (p.Ala1464Pro) | |
| 1 | g.8355570C>T | CA570754 | RERE | c.2854G>A (p.Ala952Thr) c.4516G>A (p.Ala1506Thr) c.3712G>A (p.Ala1238Thr) c.1570G>A (p.Ala524Thr) c.484G>A (p.Ala162Thr) c.4390G>A (p.Ala1464Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.8355573del | CA2643072839 | RERE | c.2854del (p.Ala952ProfsTer?) c.4516del (p.Ala1506ProfsTer?) c.3712del (p.Ala1238ProfsTer?) c.1570del (p.Ala524ProfsTer?) c.484del (p.Ala162ProfsTer?) c.4390del (p.Ala1464ProfsTer?) | gnomAD v4 |
| 1 | g.8355571C>A | CA570755 | RERE | c.2853G>T (p.Gly951=) c.4515G>T (p.Gly1505=) c.3711G>T (p.Gly1237=) c.1569G>T (p.Gly523=) c.483G>T (p.Gly161=) c.4389G>T (p.Gly1463=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.8355571C= | CA1141956728 | RERE | c.2853G= (p.Gly951=) c.4515G= (p.Gly1505=) c.3711G= (p.Gly1237=) c.1569G= (p.Gly523=) c.483G= (p.Gly161=) c.4389G= (p.Gly1463=) | |
| 1 | g.8355571C>G | CA415842093 | RERE | c.2853G>C (p.Gly951=) c.4515G>C (p.Gly1505=) c.3711G>C (p.Gly1237=) c.1569G>C (p.Gly523=) c.483G>C (p.Gly161=) c.4389G>C (p.Gly1463=) | |
| 1 | g.8355571C>T | CA415842094 | RERE | c.2853G>A (p.Gly951=) c.4515G>A (p.Gly1505=) c.3711G>A (p.Gly1237=) c.1569G>A (p.Gly523=) c.483G>A (p.Gly161=) c.4389G>A (p.Gly1463=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.8355572C>A | CA338168316 | RERE | c.2852G>T (p.Gly951Val) c.4514G>T (p.Gly1505Val) c.3710G>T (p.Gly1237Val) c.1568G>T (p.Gly523Val) c.482G>T (p.Gly161Val) c.4388G>T (p.Gly1463Val) | gnomAD v4 |
| 1 | g.8355572C= | CA1152318890 | RERE | c.2852G= (p.Gly951=) c.4514G= (p.Gly1505=) c.3710G= (p.Gly1237=) c.1568G= (p.Gly523=) c.482G= (p.Gly161=) c.4388G= (p.Gly1463=) | |
| 1 | g.8355572C>G | CA338168314 | RERE | c.2852G>C (p.Gly951Ala) c.4514G>C (p.Gly1505Ala) c.3710G>C (p.Gly1237Ala) c.1568G>C (p.Gly523Ala) c.482G>C (p.Gly161Ala) c.4388G>C (p.Gly1463Ala) | gnomAD v4 |
| 1 | g.8355572C>T | CA338168315 | RERE | c.2852G>A (p.Gly951Glu) c.4514G>A (p.Gly1505Glu) c.3710G>A (p.Gly1237Glu) c.1568G>A (p.Gly523Glu) c.482G>A (p.Gly161Glu) c.4388G>A (p.Gly1463Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.8355573C>A | CA338168317 | RERE | c.2851G>T (p.Gly951Trp) c.4513G>T (p.Gly1505Trp) c.3709G>T (p.Gly1237Trp) c.1567G>T (p.Gly523Trp) c.481G>T (p.Gly161Trp) c.4387G>T (p.Gly1463Trp) | gnomAD v4 |
| 1 | g.8355573C= | CA1152318891 | RERE | c.2851G= (p.Gly951=) c.4513G= (p.Gly1505=) c.3709G= (p.Gly1237=) c.1567G= (p.Gly523=) c.481G= (p.Gly161=) c.4387G= (p.Gly1463=) | |
| 1 | g.8355573C>G | CA338168318 | RERE | c.2851G>C (p.Gly951Arg) c.4513G>C (p.Gly1505Arg) c.3709G>C (p.Gly1237Arg) c.1567G>C (p.Gly523Arg) c.481G>C (p.Gly161Arg) c.4387G>C (p.Gly1463Arg) | dbSNP |
| 1 | g.8355573C>T | CA338168319 | RERE | c.2851G>A (p.Gly951Arg) c.4513G>A (p.Gly1505Arg) c.3709G>A (p.Gly1237Arg) c.1567G>A (p.Gly523Arg) c.481G>A (p.Gly161Arg) c.4387G>A (p.Gly1463Arg) | gnomAD v4 |
| 1 | g.8355574A>C | CA415842096 | RERE | c.2850T>G (p.Pro950=) c.4512T>G (p.Pro1504=) c.3708T>G (p.Pro1236=) c.1566T>G (p.Pro522=) c.480T>G (p.Pro160=) c.4386T>G (p.Pro1462=) | |
| 1 | g.8355574A>G | CA415842097 | RERE | c.2850T>C (p.Pro950=) c.4512T>C (p.Pro1504=) c.3708T>C (p.Pro1236=) c.1566T>C (p.Pro522=) c.480T>C (p.Pro160=) c.4386T>C (p.Pro1462=) | gnomAD v4 |
| 1 | g.8355574A>T | CA415842095 | RERE | c.2850T>A (p.Pro950=) c.4512T>A (p.Pro1504=) c.3708T>A (p.Pro1236=) c.1566T>A (p.Pro522=) c.480T>A (p.Pro160=) c.4386T>A (p.Pro1462=) | |
| 1 | g.8355575G>A | CA338168320 | RERE | c.2849C>T (p.Pro950Leu) c.4511C>T (p.Pro1504Leu) c.3707C>T (p.Pro1236Leu) c.1565C>T (p.Pro522Leu) c.479C>T (p.Pro160Leu) c.4385C>T (p.Pro1462Leu) | |
| 1 | g.8355575G>C | CA338168321 | RERE | c.2849C>G (p.Pro950Arg) c.4511C>G (p.Pro1504Arg) c.3707C>G (p.Pro1236Arg) c.1565C>G (p.Pro522Arg) c.479C>G (p.Pro160Arg) c.4385C>G (p.Pro1462Arg) | |
| 1 | g.8355575G>T | CA338168322 | RERE | c.2849C>A (p.Pro950His) c.4511C>A (p.Pro1504His) c.3707C>A (p.Pro1236His) c.1565C>A (p.Pro522His) c.479C>A (p.Pro160His) c.4385C>A (p.Pro1462His) | |
| 1 | g.8355576G>A | CA338168323 | RERE | c.2848C>T (p.Pro950Ser) c.4510C>T (p.Pro1504Ser) c.3706C>T (p.Pro1236Ser) c.1564C>T (p.Pro522Ser) c.478C>T (p.Pro160Ser) c.4384C>T (p.Pro1462Ser) | gnomAD v4 |
| 1 | g.8355576G>C | CA338168324 | RERE | c.2848C>G (p.Pro950Ala) c.4510C>G (p.Pro1504Ala) c.3706C>G (p.Pro1236Ala) c.1564C>G (p.Pro522Ala) c.478C>G (p.Pro160Ala) c.4384C>G (p.Pro1462Ala) | |
| 1 | g.8355576G>T | CA338168325 | RERE | c.2848C>A (p.Pro950Thr) c.4510C>A (p.Pro1504Thr) c.3706C>A (p.Pro1236Thr) c.1564C>A (p.Pro522Thr) c.478C>A (p.Pro160Thr) c.4384C>A (p.Pro1462Thr) | |
| 1 | g.8355577C>A | CA415842099 | RERE | c.2847G>T (p.Leu949=) c.4509G>T (p.Leu1503=) c.3705G>T (p.Leu1235=) c.1563G>T (p.Leu521=) c.477G>T (p.Leu159=) c.4383G>T (p.Leu1461=) | dbSNP gnomAD v4 |
| 1 | g.8355577C= | CA1152318892 | RERE | c.2847G= (p.Leu949=) c.4509G= (p.Leu1503=) c.3705G= (p.Leu1235=) c.1563G= (p.Leu521=) c.477G= (p.Leu159=) c.4383G= (p.Leu1461=) | |
| 1 | g.8355577C>G | CA415842100 | RERE | c.2847G>C (p.Leu949=) c.4509G>C (p.Leu1503=) c.3705G>C (p.Leu1235=) c.1563G>C (p.Leu521=) c.477G>C (p.Leu159=) c.4383G>C (p.Leu1461=) | |
| 1 | g.8355577C>T | CA415842101 | RERE | c.2847G>A (p.Leu949=) c.4509G>A (p.Leu1503=) c.3705G>A (p.Leu1235=) c.1563G>A (p.Leu521=) c.477G>A (p.Leu159=) c.4383G>A (p.Leu1461=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.8355578A= | CA1152318893 | RERE | c.2846T= (p.Leu949=) c.4508T= (p.Leu1503=) c.3704T= (p.Leu1235=) c.1562T= (p.Leu521=) c.476T= (p.Leu159=) c.4382T= (p.Leu1461=) | |
| 1 | g.8355578A>C | CA338168328 | RERE | c.2846T>G (p.Leu949Arg) c.4508T>G (p.Leu1503Arg) c.3704T>G (p.Leu1235Arg) c.1562T>G (p.Leu521Arg) c.476T>G (p.Leu159Arg) c.4382T>G (p.Leu1461Arg) | |
| 1 | g.8355578A>G | CA338168327 | RERE | c.2846T>C (p.Leu949Pro) c.4508T>C (p.Leu1503Pro) c.3704T>C (p.Leu1235Pro) c.1562T>C (p.Leu521Pro) c.476T>C (p.Leu159Pro) c.4382T>C (p.Leu1461Pro) | gnomAD v4 |
| 1 | g.8355578A>T | CA338168326 | RERE | c.2846T>A (p.Leu949Gln) c.4508T>A (p.Leu1503Gln) c.3704T>A (p.Leu1235Gln) c.1562T>A (p.Leu521Gln) c.476T>A (p.Leu159Gln) c.4382T>A (p.Leu1461Gln) | |
| 1 | g.8355578_8355586delinsAGGTCACGG | CA1152318894 | RERE | c.2838_2846delinsCCGTGACCT (p.Pro946=) c.4500_4508delinsCCGTGACCT (p.Pro1500=) c.3696_3704delinsCCGTGACCT (p.Pro1232=) c.1554_1562delinsCCGTGACCT (p.Pro518=) c.468_476delinsCCGTGACCT (p.Pro156=) c.4374_4382delinsCCGTGACCT (p.Pro1458=) | |
| 1 | g.8355579G>A | CA570757 | RERE | c.2845C>T (p.Leu949=) c.4507C>T (p.Leu1503=) c.3703C>T (p.Leu1235=) c.1561C>T (p.Leu521=) c.475C>T (p.Leu159=) c.4381C>T (p.Leu1461=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.8355579G>C | CA338168329 | RERE | c.2845C>G (p.Leu949Val) c.4507C>G (p.Leu1503Val) c.3703C>G (p.Leu1235Val) c.1561C>G (p.Leu521Val) c.475C>G (p.Leu159Val) c.4381C>G (p.Leu1461Val) | |
| 1 | g.8355579G= | CA1152318895 | RERE | c.2845C= (p.Leu949=) c.4507C= (p.Leu1503=) c.3703C= (p.Leu1235=) c.1561C= (p.Leu521=) c.475C= (p.Leu159=) c.4381C= (p.Leu1461=) | |
| 1 | g.8355579G>T | CA338168330 | RERE | c.2845C>A (p.Leu949Met) c.4507C>A (p.Leu1503Met) c.3703C>A (p.Leu1235Met) c.1561C>A (p.Leu521Met) c.475C>A (p.Leu159Met) c.4381C>A (p.Leu1461Met) | |
| 1 | g.8355579_8355581dup | CA570756 | RERE | c.2843_2845dup (p.Asp948_Leu949insHis) c.4505_4507dup (p.Asp1502_Leu1503insHis) c.3701_3703dup (p.Asp1234_Leu1235insHis) c.1559_1561dup (p.Asp520_Leu521insHis) c.473_475dup (p.Asp158_Leu159insHis) c.4379_4381dup (p.Asp1460_Leu1461insHis) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.8355581_8355588del | CA1152318896 | RERE | c.2838_2845del (p.Arg947AlafsTer?) c.4500_4507del (p.Arg1501AlafsTer?) c.3696_3703del (p.Arg1233AlafsTer?) c.1554_1561del (p.Arg519AlafsTer?) c.468_475del (p.Arg157AlafsTer?) c.4374_4381del (p.Arg1459AlafsTer?) | dbSNP |
| 1 | g.8355580G>A | CA415842105 | RERE | c.2844C>T (p.Asp948=) c.4506C>T (p.Asp1502=) c.3702C>T (p.Asp1234=) c.1560C>T (p.Asp520=) c.474C>T (p.Asp158=) c.4380C>T (p.Asp1460=) | dbSNP gnomAD v4 |
| 1 | g.8355580G>C | CA338168331 | RERE | c.2844C>G (p.Asp948Glu) c.4506C>G (p.Asp1502Glu) c.3702C>G (p.Asp1234Glu) c.1560C>G (p.Asp520Glu) c.474C>G (p.Asp158Glu) c.4380C>G (p.Asp1460Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.8355580G= | CA1152318897 | RERE | c.2844C= (p.Asp948=) c.4506C= (p.Asp1502=) c.3702C= (p.Asp1234=) c.1560C= (p.Asp520=) c.474C= (p.Asp158=) c.4380C= (p.Asp1460=) | |
| 1 | g.8355580G>T | CA338168332 | RERE | c.2844C>A (p.Asp948Glu) c.4506C>A (p.Asp1502Glu) c.3702C>A (p.Asp1234Glu) c.1560C>A (p.Asp520Glu) c.474C>A (p.Asp158Glu) c.4380C>A (p.Asp1460Glu) | gnomAD v4 |
| 1 | g.8355581T>A | CA338168333 | RERE | c.2843A>T (p.Asp948Val) c.4505A>T (p.Asp1502Val) c.3701A>T (p.Asp1234Val) c.1559A>T (p.Asp520Val) c.473A>T (p.Asp158Val) c.4379A>T (p.Asp1460Val) | |
| 1 | g.8355581T>C | CA338168334 | RERE | c.2843A>G (p.Asp948Gly) c.4505A>G (p.Asp1502Gly) c.3701A>G (p.Asp1234Gly) c.1559A>G (p.Asp520Gly) c.473A>G (p.Asp158Gly) c.4379A>G (p.Asp1460Gly) | |
| 1 | g.8355581T>G | CA338168335 | RERE | c.2843A>C (p.Asp948Ala) c.4505A>C (p.Asp1502Ala) c.3701A>C (p.Asp1234Ala) c.1559A>C (p.Asp520Ala) c.473A>C (p.Asp158Ala) c.4379A>C (p.Asp1460Ala) | |
| 1 | g.8355582C>A | CA338168336 | RERE | c.2842G>T (p.Asp948Tyr) c.4504G>T (p.Asp1502Tyr) c.3700G>T (p.Asp1234Tyr) c.1558G>T (p.Asp520Tyr) c.472G>T (p.Asp158Tyr) c.4378G>T (p.Asp1460Tyr) | gnomAD v4 |
| 1 | g.8355582C>G | CA338168337 | RERE | c.2842G>C (p.Asp948His) c.4504G>C (p.Asp1502His) c.3700G>C (p.Asp1234His) c.1558G>C (p.Asp520His) c.472G>C (p.Asp158His) c.4378G>C (p.Asp1460His) | |
| 1 | g.8355582C>T | CA338168338 | RERE | c.2842G>A (p.Asp948Asn) c.4504G>A (p.Asp1502Asn) c.3700G>A (p.Asp1234Asn) c.1558G>A (p.Asp520Asn) c.472G>A (p.Asp158Asn) c.4378G>A (p.Asp1460Asn) | |
| 1 | g.8355583A>C | CA415842107 | RERE | c.2841T>G (p.Arg947=) c.4503T>G (p.Arg1501=) c.3699T>G (p.Arg1233=) c.1557T>G (p.Arg519=) c.471T>G (p.Arg157=) c.4377T>G (p.Arg1459=) | |
| 1 | g.8355583A>G | CA415842108 | RERE | c.2841T>C (p.Arg947=) c.4503T>C (p.Arg1501=) c.3699T>C (p.Arg1233=) c.1557T>C (p.Arg519=) c.471T>C (p.Arg157=) c.4377T>C (p.Arg1459=) | |
| 1 | g.8355583A>T | CA415842110 | RERE | c.2841T>A (p.Arg947=) c.4503T>A (p.Arg1501=) c.3699T>A (p.Arg1233=) c.1557T>A (p.Arg519=) c.471T>A (p.Arg157=) c.4377T>A (p.Arg1459=) | |
| 1 | g.8355584C>A | CA338168340 | RERE | c.2840G>T (p.Arg947Leu) c.4502G>T (p.Arg1501Leu) c.3698G>T (p.Arg1233Leu) c.1556G>T (p.Arg519Leu) c.470G>T (p.Arg157Leu) c.4376G>T (p.Arg1459Leu) | gnomAD v4 |
| 1 | g.8355584C= | CA1152318898 | RERE | c.2840G= (p.Arg947=) c.4502G= (p.Arg1501=) c.3698G= (p.Arg1233=) c.1556G= (p.Arg519=) c.470G= (p.Arg157=) c.4376G= (p.Arg1459=) | |
| 1 | g.8355584C>G | CA338168341 | RERE | c.2840G>C (p.Arg947Pro) c.4502G>C (p.Arg1501Pro) c.3698G>C (p.Arg1233Pro) c.1556G>C (p.Arg519Pro) c.470G>C (p.Arg157Pro) c.4376G>C (p.Arg1459Pro) | gnomAD v4 COSMIC |
| 1 | g.8355584C>T | CA338168339 | RERE | c.2840G>A (p.Arg947His) c.4502G>A (p.Arg1501His) c.3698G>A (p.Arg1233His) c.1556G>A (p.Arg519His) c.470G>A (p.Arg157His) c.4376G>A (p.Arg1459His) | dbSNP gnomAD v4 |