Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.54627617T>A | CA370997157 | RP1 | c.3735T>A (p.Cys1245Ter) c.787+5329T>A (n.787+5329T>A) c.3756T>A (p.Cys1252Ter) | |
8 | g.54627617T>C | CA461099581 | RP1 | c.3735T>C (p.Cys1245=) c.787+5329T>C (n.787+5329T>C) c.3756T>C (p.Cys1252=) | COSMIC |
8 | g.54627617T>G | CA370997158 | RP1 | c.3735T>G (p.Cys1245Trp) c.787+5329T>G (n.787+5329T>G) c.3756T>G (p.Cys1252Trp) | |
8 | g.54627618del | CA2780387037 | RP1 | c.3736del (p.Ala1246ProfsTer9) c.787+5330del (n.787+5330del) c.3757del (p.Ala1253ProfsTer9) | |
8 | g.54627618G>A | CA370997159 | RP1 | c.3736G>A (p.Ala1246Thr) c.787+5330G>A (n.787+5330G>A) c.3757G>A (p.Ala1253Thr) | COSMIC |
8 | g.54627618G>C | CA370997160 | RP1 | c.3736G>C (p.Ala1246Pro) c.787+5330G>C (n.787+5330G>C) c.3757G>C (p.Ala1253Pro) | |
8 | g.54627618G>T | CA370997161 | RP1 | c.3736G>T (p.Ala1246Ser) c.787+5330G>T (n.787+5330G>T) c.3757G>T (p.Ala1253Ser) | |
8 | g.54627619C>A | CA370997162 | RP1 | c.3737C>A (p.Ala1246Asp) c.787+5331C>A (n.787+5331C>A) c.3758C>A (p.Ala1253Asp) | |
8 | g.54627619C>G | CA370997163 | RP1 | c.3737C>G (p.Ala1246Gly) c.787+5331C>G (n.787+5331C>G) c.3758C>G (p.Ala1253Gly) | |
8 | g.54627619C>T | CA370997164 | RP1 | c.3737C>T (p.Ala1246Val) c.787+5331C>T (n.787+5331C>T) c.3758C>T (p.Ala1253Val) | gnomAD v4 COSMIC |
8 | g.54627620C>A | CA461099587 | RP1 | c.3738C>A (p.Ala1246=) c.787+5332C>A (n.787+5332C>A) c.3759C>A (p.Ala1253=) | gnomAD v4 |
8 | g.54627620C>G | CA461099589 | RP1 | c.3738C>G (p.Ala1246=) c.787+5332C>G (n.787+5332C>G) c.3759C>G (p.Ala1253=) | |
8 | g.54627620C>T | CA461099588 | RP1 | c.3738C>T (p.Ala1246=) c.787+5332C>T (n.787+5332C>T) c.3759C>T (p.Ala1253=) | gnomAD v4 |
8 | g.54627621C>A | CA370997165 | RP1 | c.3739C>A (p.Pro1247Thr) c.787+5333C>A (n.787+5333C>A) c.3760C>A (p.Pro1254Thr) | |
8 | g.54627621C>G | CA370997166 | RP1 | c.3739C>G (p.Pro1247Ala) c.787+5333C>G (n.787+5333C>G) c.3760C>G (p.Pro1254Ala) | |
8 | g.54627621C>T | CA370997167 | RP1 | c.3739C>T (p.Pro1247Ser) c.787+5333C>T (n.787+5333C>T) c.3760C>T (p.Pro1254Ser) | gnomAD v4 |
8 | g.54627622C>A | CA370997168 | RP1 | c.3740C>A (p.Pro1247His) c.787+5334C>A (n.787+5334C>A) c.3761C>A (p.Pro1254His) | |
8 | g.54627622C= | CA1785188823 | RP1 | c.3740C= (p.Pro1247=) c.787+5334C= (n.787+5334C=) c.3761C= (p.Pro1254=) | |
8 | g.54627622C>G | CA370997169 | RP1 | c.3740C>G (p.Pro1247Arg) c.787+5334C>G (n.787+5334C>G) c.3761C>G (p.Pro1254Arg) | |
8 | g.54627622C>T | CA370997170 | RP1 | c.3740C>T (p.Pro1247Leu) c.787+5334C>T (n.787+5334C>T) c.3761C>T (p.Pro1254Leu) | ClinVar dbSNP gnomAD v4 |
8 | g.54627623T>A | CA461099597 | RP1 | c.3741T>A (p.Pro1247=) c.787+5335T>A (n.787+5335T>A) c.3762T>A (p.Pro1254=) | |
8 | g.54627623T>C | CA461099598 | RP1 | c.3741T>C (p.Pro1247=) c.787+5335T>C (n.787+5335T>C) c.3762T>C (p.Pro1254=) | |
8 | g.54627623T>G | CA461099599 | RP1 | c.3741T>G (p.Pro1247=) c.787+5335T>G (n.787+5335T>G) c.3762T>G (p.Pro1254=) | |
8 | g.54627624G>A | CA370997171 | RP1 | c.3742G>A (p.Glu1248Lys) c.787+5336G>A (n.787+5336G>A) c.3763G>A (p.Glu1255Lys) | gnomAD v4 |
8 | g.54627624G>C | CA370997173 | RP1 | c.3742G>C (p.Glu1248Gln) c.787+5336G>C (n.787+5336G>C) c.3763G>C (p.Glu1255Gln) | |
8 | g.54627624G>T | CA370997172 | RP1 | c.3742G>T (p.Glu1248Ter) c.787+5336G>T (n.787+5336G>T) c.3763G>T (p.Glu1255Ter) | |
8 | g.54627625A>C | CA370997174 | RP1 | c.3743A>C (p.Glu1248Ala) c.787+5337A>C (n.787+5337A>C) c.3764A>C (p.Glu1255Ala) | |
8 | g.54627625A>G | CA370997175 | RP1 | c.3743A>G (p.Glu1248Gly) c.787+5337A>G (n.787+5337A>G) c.3764A>G (p.Glu1255Gly) | |
8 | g.54627625A>T | CA370997176 | RP1 | c.3743A>T (p.Glu1248Val) c.787+5337A>T (n.787+5337A>T) c.3764A>T (p.Glu1255Val) | |
8 | g.54627626A>C | CA370997177 | RP1 | c.3744A>C (p.Glu1248Asp) c.787+5338A>C (n.787+5338A>C) c.3765A>C (p.Glu1255Asp) | gnomAD v4 |
8 | g.54627626A>G | CA461099600 | RP1 | c.3744A>G (p.Glu1248=) c.787+5338A>G (n.787+5338A>G) c.3765A>G (p.Glu1255=) | |
8 | g.54627626A>T | CA370997178 | RP1 | c.3744A>T (p.Glu1248Asp) c.787+5338A>T (n.787+5338A>T) c.3765A>T (p.Glu1255Asp) | |
8 | g.54627627G>A | CA370997179 | RP1 | c.3745G>A (p.Val1249Ile) c.787+5339G>A (n.787+5339G>A) c.3766G>A (p.Val1256Ile) | |
8 | g.54627627G>C | CA370997180 | RP1 | c.3745G>C (p.Val1249Leu) c.787+5339G>C (n.787+5339G>C) c.3766G>C (p.Val1256Leu) | |
8 | g.54627627G>T | CA370997181 | RP1 | c.3745G>T (p.Val1249Phe) c.787+5339G>T (n.787+5339G>T) c.3766G>T (p.Val1256Phe) | gnomAD v4 |
8 | g.54627628T>A | CA370997182 | RP1 | c.3746T>A (p.Val1249Asp) c.787+5340T>A (n.787+5340T>A) c.3767T>A (p.Val1256Asp) | |
8 | g.54627628T>C | CA370997183 | RP1 | c.3746T>C (p.Val1249Ala) c.787+5340T>C (n.787+5340T>C) c.3767T>C (p.Val1256Ala) | |
8 | g.54627628T>G | CA370997184 | RP1 | c.3746T>G (p.Val1249Gly) c.787+5340T>G (n.787+5340T>G) c.3767T>G (p.Val1256Gly) | |
8 | g.54627629C>A | CA461099615 | RP1 | c.3747C>A (p.Val1249=) c.787+5341C>A (n.787+5341C>A) c.3768C>A (p.Val1256=) | |
8 | g.54627629C>G | CA461099616 | RP1 | c.3747C>G (p.Val1249=) c.787+5341C>G (n.787+5341C>G) c.3768C>G (p.Val1256=) | |
8 | g.54627629C>T | CA461099617 | RP1 | c.3747C>T (p.Val1249=) c.787+5341C>T (n.787+5341C>T) c.3768C>T (p.Val1256=) | gnomAD v4 |
8 | g.54627629_54627631delinsCTG | CA1785188824 | RP1 | c.3747_3749delinsCTG (p.Val1249=) c.787+5341_787+5343delinsCTG (n.787+5341_787+5343delinsCTG) c.3768_3770delinsCTG (p.Val1256=) | |
8 | g.54627630T>A | CA370997186 | RP1 | c.3748T>A (p.Cys1250Ser) c.787+5342T>A (n.787+5342T>A) c.3769T>A (p.Cys1257Ser) | |
8 | g.54627630T>C | CA4751740 | RP1 | c.3748T>C (p.Cys1250Arg) c.787+5342T>C (n.787+5342T>C) c.3769T>C (p.Cys1257Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54627630T>G | CA370997185 | RP1 | c.3748T>G (p.Cys1250Gly) c.787+5342T>G (n.787+5342T>G) c.3769T>G (p.Cys1257Gly) | |
8 | g.54627630T= | CA1785188825 | RP1 | c.3748T= (p.Cys1250=) c.787+5342T= (n.787+5342T=) c.3769T= (p.Cys1257=) | |
8 | g.54627633_54627634del | CA4751739 | RP1 | c.3751_3752del (p.Val1251PhefsTer9) c.787+5345_787+5346del (n.787+5345_787+5346del) c.3772_3773del (p.Val1258PhefsTer9) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54627631G>A | CA370997187 | RP1 | c.3749G>A (p.Cys1250Tyr) c.787+5343G>A (n.787+5343G>A) c.3770G>A (p.Cys1257Tyr) | COSMIC |
8 | g.54627631G>C | CA370997188 | RP1 | c.3749G>C (p.Cys1250Ser) c.787+5343G>C (n.787+5343G>C) c.3770G>C (p.Cys1257Ser) | gnomAD v4 |
8 | g.54627631G>T | CA370997189 | RP1 | c.3749G>T (p.Cys1250Phe) c.787+5343G>T (n.787+5343G>T) c.3770G>T (p.Cys1257Phe) | |
8 | g.54627632T>A | CA370997190 | RP1 | c.3750T>A (p.Cys1250Ter) c.787+5344T>A (n.787+5344T>A) c.3771T>A (p.Cys1257Ter) | |
8 | g.54627632T>C | CA461099621 | RP1 | c.3750T>C (p.Cys1250=) c.787+5344T>C (n.787+5344T>C) c.3771T>C (p.Cys1257=) | |
8 | g.54627632T>G | CA370997191 | RP1 | c.3750T>G (p.Cys1250Trp) c.787+5344T>G (n.787+5344T>G) c.3771T>G (p.Cys1257Trp) | |
8 | g.54627633G>A | CA370997192 | RP1 | c.3751G>A (p.Val1251Ile) c.787+5345G>A (n.787+5345G>A) c.3772G>A (p.Val1258Ile) | gnomAD v4 |
8 | g.54627633G>C | CA370997193 | RP1 | c.3751G>C (p.Val1251Leu) c.787+5345G>C (n.787+5345G>C) c.3772G>C (p.Val1258Leu) | |
8 | g.54627633G>T | CA370997194 | RP1 | c.3751G>T (p.Val1251Phe) c.787+5345G>T (n.787+5345G>T) c.3772G>T (p.Val1258Phe) | |
8 | g.54627634T>A | CA370997195 | RP1 | c.3752T>A (p.Val1251Asp) c.787+5346T>A (n.787+5346T>A) c.3773T>A (p.Val1258Asp) | gnomAD v4 COSMIC |
8 | g.54627634T>C | CA370997196 | RP1 | c.3752T>C (p.Val1251Ala) c.787+5346T>C (n.787+5346T>C) c.3773T>C (p.Val1258Ala) | |
8 | g.54627634T>G | CA4751741 | RP1 | c.3752T>G (p.Val1251Gly) c.787+5346T>G (n.787+5346T>G) c.3773T>G (p.Val1258Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54627634T= | CA1785188826 | RP1 | c.3752T= (p.Val1251=) c.787+5346T= (n.787+5346T=) c.3773T= (p.Val1258=) | |
8 | g.54627637dup | CA461099623 | RP1 | c.3755dup (p.Leu1252PhefsTer9) c.787+5349dup (n.787+5349dup) c.3776dup (p.Leu1259PhefsTer9) | COSMIC |
8 | g.54627635T>A | CA461099624 | RP1 | c.3753T>A (p.Val1251=) c.787+5347T>A (n.787+5347T>A) c.3774T>A (p.Val1258=) | |
8 | g.54627635T>C | CA461099625 | RP1 | c.3753T>C (p.Val1251=) c.787+5347T>C (n.787+5347T>C) c.3774T>C (p.Val1258=) | |
8 | g.54627635T>G | CA461099626 | RP1 | c.3753T>G (p.Val1251=) c.787+5347T>G (n.787+5347T>G) c.3774T>G (p.Val1258=) | |
8 | g.54627636T>A | CA370997197 | RP1 | c.3754T>A (p.Leu1252Met) c.787+5348T>A (n.787+5348T>A) c.3775T>A (p.Leu1259Met) | |
8 | g.54627636T>C | CA461099628 | RP1 | c.3754T>C (p.Leu1252=) c.787+5348T>C (n.787+5348T>C) c.3775T>C (p.Leu1259=) | |
8 | g.54627636T>G | CA370997198 | RP1 | c.3754T>G (p.Leu1252Val) c.787+5348T>G (n.787+5348T>G) c.3775T>G (p.Leu1259Val) | |
8 | g.54627637T>A | CA370997199 | RP1 | c.3755T>A (p.Leu1252Ter) c.787+5349T>A (n.787+5349T>A) c.3776T>A (p.Leu1259Ter) | |
8 | g.54627637T>C | CA370997201 | RP1 | c.3755T>C (p.Leu1252Ser) c.787+5349T>C (n.787+5349T>C) c.3776T>C (p.Leu1259Ser) | |
8 | g.54627637T>G | CA370997200 | RP1 | c.3755T>G (p.Leu1252Trp) c.787+5349T>G (n.787+5349T>G) c.3776T>G (p.Leu1259Trp) | |
8 | g.54627638G>A | CA4751742 | RP1 | c.3756G>A (p.Leu1252=) c.787+5350G>A (n.787+5350G>A) c.3777G>A (p.Leu1259=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627638G>C | CA370997202 | RP1 | c.3756G>C (p.Leu1252Phe) c.787+5350G>C (n.787+5350G>C) c.3777G>C (p.Leu1259Phe) | |
8 | g.54627638G= | CA1785188827 | RP1 | c.3756G= (p.Leu1252=) c.787+5350G= (n.787+5350G=) c.3777G= (p.Leu1259=) | |
8 | g.54627638G>T | CA370997203 | RP1 | c.3756G>T (p.Leu1252Phe) c.787+5350G>T (n.787+5350G>T) c.3777G>T (p.Leu1259Phe) | ClinVar |
8 | g.54627639G>A | CA370997204 | RP1 | c.3757G>A (p.Glu1253Lys) c.787+5351G>A (n.787+5351G>A) c.3778G>A (p.Glu1260Lys) | |
8 | g.54627639G>C | CA370997205 | RP1 | c.3757G>C (p.Glu1253Gln) c.787+5351G>C (n.787+5351G>C) c.3778G>C (p.Glu1260Gln) | |
8 | g.54627639G>T | CA370997206 | RP1 | c.3757G>T (p.Glu1253Ter) c.787+5351G>T (n.787+5351G>T) c.3778G>T (p.Glu1260Ter) | |
8 | g.54627640A>C | CA370997207 | RP1 | c.3758A>C (p.Glu1253Ala) c.787+5352A>C (n.787+5352A>C) c.3779A>C (p.Glu1260Ala) | |
8 | g.54627640A>G | CA370997208 | RP1 | c.3758A>G (p.Glu1253Gly) c.787+5352A>G (n.787+5352A>G) c.3779A>G (p.Glu1260Gly) | |
8 | g.54627640A>T | CA370997209 | RP1 | c.3758A>T (p.Glu1253Val) c.787+5352A>T (n.787+5352A>T) c.3779A>T (p.Glu1260Val) | |
8 | g.54627641del | CA461099638 | RP1 | c.3759del (p.Val1254Ter) c.787+5353del (n.787+5353del) c.3780del (p.Val1261Ter) | COSMIC |
8 | g.54627641A>C | CA370997210 | RP1 | c.3759A>C (p.Glu1253Asp) c.787+5353A>C (n.787+5353A>C) c.3780A>C (p.Glu1260Asp) | |
8 | g.54627641A>G | CA461099639 | RP1 | c.3759A>G (p.Glu1253=) c.787+5353A>G (n.787+5353A>G) c.3780A>G (p.Glu1260=) | |
8 | g.54627641A>T | CA370997211 | RP1 | c.3759A>T (p.Glu1253Asp) c.787+5353A>T (n.787+5353A>T) c.3780A>T (p.Glu1260Asp) | |
8 | g.54627642G>A | CA370997214 | RP1 | c.3760G>A (p.Val1254Met) c.787+5354G>A (n.787+5354G>A) c.3781G>A (p.Val1261Met) | gnomAD v4 |
8 | g.54627642G>C | CA370997212 | RP1 | c.3760G>C (p.Val1254Leu) c.787+5354G>C (n.787+5354G>C) c.3781G>C (p.Val1261Leu) | |
8 | g.54627642G>T | CA370997213 | RP1 | c.3760G>T (p.Val1254Leu) c.787+5354G>T (n.787+5354G>T) c.3781G>T (p.Val1261Leu) | |
8 | g.54627642_54627643insA | CA2687301871 | RP1 | c.3760_3761insA (p.Val1254AspfsTer7) c.787+5354_787+5355insA (n.787+5354_787+5355insA) c.3781_3782insA (p.Val1261AspfsTer7) | gnomAD v4 |
8 | g.54627643T>A | CA370997215 | RP1 | c.3761T>A (p.Val1254Glu) c.787+5355T>A (n.787+5355T>A) c.3782T>A (p.Val1261Glu) | |
8 | g.54627643T>C | CA370997216 | RP1 | c.3761T>C (p.Val1254Ala) c.787+5355T>C (n.787+5355T>C) c.3782T>C (p.Val1261Ala) | gnomAD v4 |
8 | g.54627643T>G | CA370997217 | RP1 | c.3761T>G (p.Val1254Gly) c.787+5355T>G (n.787+5355T>G) c.3782T>G (p.Val1261Gly) | |
8 | g.54627644del | CA2687301872 | RP1 | c.3762del (p.Thr1255LeufsTer10) c.787+5356del (n.787+5356del) c.3783del (p.Thr1262LeufsTer10) | gnomAD v4 |
8 | g.54627644G>A | CA461099644 | RP1 | c.3762G>A (p.Val1254=) c.787+5356G>A (n.787+5356G>A) c.3783G>A (p.Val1261=) | |
8 | g.54627644G>C | CA461099645 | RP1 | c.3762G>C (p.Val1254=) c.787+5356G>C (n.787+5356G>C) c.3783G>C (p.Val1261=) | |
8 | g.54627644G= | CA1785188828 | RP1 | c.3762G= (p.Val1254=) c.787+5356G= (n.787+5356G=) c.3783G= (p.Val1261=) | |
8 | g.54627644G>T | CA4751743 | RP1 | c.3762G>T (p.Val1254=) c.787+5356G>T (n.787+5356G>T) c.3783G>T (p.Val1261=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627645A>C | CA370997218 | RP1 | c.3763A>C (p.Thr1255Pro) c.787+5357A>C (n.787+5357A>C) c.3784A>C (p.Thr1262Pro) | |
8 | g.54627645A>G | CA370997219 | RP1 | c.3763A>G (p.Thr1255Ala) c.787+5357A>G (n.787+5357A>G) c.3784A>G (p.Thr1262Ala) | |
8 | g.54627645A>T | CA370997220 | RP1 | c.3763A>T (p.Thr1255Ser) c.787+5357A>T (n.787+5357A>T) c.3784A>T (p.Thr1262Ser) | |
8 | g.54627646C>A | CA370997221 | RP1 | c.3764C>A (p.Thr1255Asn) c.787+5358C>A (n.787+5358C>A) c.3785C>A (p.Thr1262Asn) | |
8 | g.54627646C>G | CA370997222 | RP1 | c.3764C>G (p.Thr1255Ser) c.787+5358C>G (n.787+5358C>G) c.3785C>G (p.Thr1262Ser) | |
8 | g.54627646C>T | CA370997223 | RP1 | c.3764C>T (p.Thr1255Ile) c.787+5358C>T (n.787+5358C>T) c.3785C>T (p.Thr1262Ile) | |
8 | g.54627647T>A | CA461099650 | RP1 | c.3765T>A (p.Thr1255=) c.787+5359T>A (n.787+5359T>A) c.3786T>A (p.Thr1262=) | |
8 | g.54627647T>C | CA461099657 | RP1 | c.3765T>C (p.Thr1255=) c.787+5359T>C (n.787+5359T>C) c.3786T>C (p.Thr1262=) | |
8 | g.54627647T>G | CA461099654 | RP1 | c.3765T>G (p.Thr1255=) c.787+5359T>G (n.787+5359T>G) c.3786T>G (p.Thr1262=) | |
8 | g.54627648T>A | CA370997225 | RP1 | c.3766T>A (p.Cys1256Ser) c.787+5360T>A (n.787+5360T>A) c.3787T>A (p.Cys1263Ser) | |
8 | g.54627648T>C | CA370997226 | RP1 | c.3766T>C (p.Cys1256Arg) c.787+5360T>C (n.787+5360T>C) c.3787T>C (p.Cys1263Arg) | gnomAD v4 |
8 | g.54627648T>G | CA370997224 | RP1 | c.3766T>G (p.Cys1256Gly) c.787+5360T>G (n.787+5360T>G) c.3787T>G (p.Cys1263Gly) | |
8 | g.54627649G>A | CA370997227 | RP1 | c.3767G>A (p.Cys1256Tyr) c.787+5361G>A (n.787+5361G>A) c.3788G>A (p.Cys1263Tyr) | |
8 | g.54627649G>C | CA370997228 | RP1 | c.3767G>C (p.Cys1256Ser) c.787+5361G>C (n.787+5361G>C) c.3788G>C (p.Cys1263Ser) | |
8 | g.54627649G= | CA1785188829 | RP1 | c.3767G= (p.Cys1256=) c.787+5361G= (n.787+5361G=) c.3788G= (p.Cys1263=) | |
8 | g.54627649G>T | CA370997229 | RP1 | c.3767G>T (p.Cys1256Phe) c.787+5361G>T (n.787+5361G>T) c.3788G>T (p.Cys1263Phe) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54627650C>A | CA370997230 | RP1 | c.3768C>A (p.Cys1256Ter) c.787+5362C>A (n.787+5362C>A) c.3789C>A (p.Cys1263Ter) | |
8 | g.54627650C>G | CA370997231 | RP1 | c.3768C>G (p.Cys1256Trp) c.787+5362C>G (n.787+5362C>G) c.3789C>G (p.Cys1263Trp) | |
8 | g.54627650C>T | CA461099663 | RP1 | c.3768C>T (p.Cys1256=) c.787+5362C>T (n.787+5362C>T) c.3789C>T (p.Cys1263=) | gnomAD v4 |
8 | g.54627651T>A | CA370997234 | RP1 | c.3769T>A (p.Ser1257Thr) c.787+5363T>A (n.787+5363T>A) c.3790T>A (p.Ser1264Thr) | |
8 | g.54627651T>C | CA370997233 | RP1 | c.3769T>C (p.Ser1257Pro) c.787+5363T>C (n.787+5363T>C) c.3790T>C (p.Ser1264Pro) | |
8 | g.54627651T>G | CA370997232 | RP1 | c.3769T>G (p.Ser1257Ala) c.787+5363T>G (n.787+5363T>G) c.3790T>G (p.Ser1264Ala) | |
8 | g.54627652C>A | CA370997235 | RP1 | c.3770C>A (p.Ser1257Tyr) c.787+5364C>A (n.787+5364C>A) c.3791C>A (p.Ser1264Tyr) | |
8 | g.54627652C>G | CA370997236 | RP1 | c.3770C>G (p.Ser1257Cys) c.787+5364C>G (n.787+5364C>G) c.3791C>G (p.Ser1264Cys) | |
8 | g.54627652C>T | CA370997237 | RP1 | c.3770C>T (p.Ser1257Phe) c.787+5364C>T (n.787+5364C>T) c.3791C>T (p.Ser1264Phe) | |
8 | g.54627653T>A | CA461099667 | RP1 | c.3771T>A (p.Ser1257=) c.787+5365T>A (n.787+5365T>A) c.3792T>A (p.Ser1264=) | |
8 | g.54627653T>C | CA461099668 | RP1 | c.3771T>C (p.Ser1257=) c.787+5365T>C (n.787+5365T>C) c.3792T>C (p.Ser1264=) | |
8 | g.54627653T>G | CA461099669 | RP1 | c.3771T>G (p.Ser1257=) c.787+5365T>G (n.787+5365T>G) c.3792T>G (p.Ser1264=) | |
8 | g.54627654C>A | CA370997238 | RP1 | c.3772C>A (p.Pro1258Thr) c.787+5366C>A (n.787+5366C>A) c.3793C>A (p.Pro1265Thr) | gnomAD v4 |
8 | g.54627654C>G | CA370997239 | RP1 | c.3772C>G (p.Pro1258Ala) c.787+5366C>G (n.787+5366C>G) c.3793C>G (p.Pro1265Ala) | |
8 | g.54627654C>T | CA370997240 | RP1 | c.3772C>T (p.Pro1258Ser) c.787+5366C>T (n.787+5366C>T) c.3793C>T (p.Pro1265Ser) | |
8 | g.54627655C>A | CA370997241 | RP1 | c.3773C>A (p.Pro1258Gln) c.787+5367C>A (n.787+5367C>A) c.3794C>A (p.Pro1265Gln) | |
8 | g.54627655C= | CA1785188830 | RP1 | c.3773C= (p.Pro1258=) c.787+5367C= (n.787+5367C=) c.3794C= (p.Pro1265=) | |
8 | g.54627655C>G | CA370997242 | RP1 | c.3773C>G (p.Pro1258Arg) c.787+5367C>G (n.787+5367C>G) c.3794C>G (p.Pro1265Arg) | |
8 | g.54627655C>T | CA4751744 | RP1 | c.3773C>T (p.Pro1258Leu) c.787+5367C>T (n.787+5367C>T) c.3794C>T (p.Pro1265Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627656A= | CA1785188831 | RP1 | c.3774A= (p.Pro1258=) c.787+5368A= (n.787+5368A=) c.3795A= (p.Pro1265=) | |
8 | g.54627656A>C | CA4751745 | RP1 | c.3774A>C (p.Pro1258=) c.787+5368A>C (n.787+5368A>C) c.3795A>C (p.Pro1265=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54627656A>G | CA461099670 | RP1 | c.3774A>G (p.Pro1258=) c.787+5368A>G (n.787+5368A>G) c.3795A>G (p.Pro1265=) | |
8 | g.54627656A>T | CA461099671 | RP1 | c.3774A>T (p.Pro1258=) c.787+5368A>T (n.787+5368A>T) c.3795A>T (p.Pro1265=) | |
8 | g.54627657T>A | CA370997243 | RP1 | c.3775T>A (p.Cys1259Ser) c.787+5369T>A (n.787+5369T>A) c.3796T>A (p.Cys1266Ser) | |
8 | g.54627657T>C | CA370997244 | RP1 | c.3775T>C (p.Cys1259Arg) c.787+5369T>C (n.787+5369T>C) c.3796T>C (p.Cys1266Arg) | |
8 | g.54627657T>G | CA370997245 | RP1 | c.3775T>G (p.Cys1259Gly) c.787+5369T>G (n.787+5369T>G) c.3796T>G (p.Cys1266Gly) | |
8 | g.54627658G>A | CA4751746 | RP1 | c.3776G>A (p.Cys1259Tyr) c.787+5370G>A (n.787+5370G>A) c.3797G>A (p.Cys1266Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54627658G>C | CA370997246 | RP1 | c.3776G>C (p.Cys1259Ser) c.787+5370G>C (n.787+5370G>C) c.3797G>C (p.Cys1266Ser) | |
8 | g.54627658G= | CA1785188832 | RP1 | c.3776G= (p.Cys1259=) c.787+5370G= (n.787+5370G=) c.3797G= (p.Cys1266=) | |
8 | g.54627658G>T | CA370997247 | RP1 | c.3776G>T (p.Cys1259Phe) c.787+5370G>T (n.787+5370G>T) c.3797G>T (p.Cys1266Phe) | |
8 | g.54627658_54627659insA | CA2687301873 | RP1 | c.3776_3777insA (p.Cys1259Ter) c.787+5370_787+5371insA (n.787+5370_787+5371insA) c.3797_3798insA (p.Cys1266Ter) | gnomAD v4 |
8 | g.54627659T>A | CA370997248 | RP1 | c.3777T>A (p.Cys1259Ter) c.787+5371T>A (n.787+5371T>A) c.3798T>A (p.Cys1266Ter) | |
8 | g.54627659T>C | CA461099676 | RP1 | c.3777T>C (p.Cys1259=) c.787+5371T>C (n.787+5371T>C) c.3798T>C (p.Cys1266=) | |
8 | g.54627659T>G | CA370997249 | RP1 | c.3777T>G (p.Cys1259Trp) c.787+5371T>G (n.787+5371T>G) c.3798T>G (p.Cys1266Trp) | gnomAD v4 |
8 | g.54627660G>A | CA370997250 | RP1 | c.3778G>A (p.Glu1260Lys) c.787+5372G>A (n.787+5372G>A) c.3799G>A (p.Glu1267Lys) | |
8 | g.54627660G>C | CA370997251 | RP1 | c.3778G>C (p.Glu1260Gln) c.787+5372G>C (n.787+5372G>C) c.3799G>C (p.Glu1267Gln) | dbSNP |
8 | g.54627660G= | CA1785188833 | RP1 | c.3778G= (p.Glu1260=) c.787+5372G= (n.787+5372G=) c.3799G= (p.Glu1267=) | |
8 | g.54627660G>T | CA370997252 | RP1 | c.3778G>T (p.Glu1260Ter) c.787+5372G>T (n.787+5372G>T) c.3799G>T (p.Glu1267Ter) | |
8 | g.54627661A>C | CA370997254 | RP1 | c.3779A>C (p.Glu1260Ala) c.787+5373A>C (n.787+5373A>C) c.3800A>C (p.Glu1267Ala) | |
8 | g.54627661A>G | CA370997255 | RP1 | c.3779A>G (p.Glu1260Gly) c.787+5373A>G (n.787+5373A>G) c.3800A>G (p.Glu1267Gly) | |
8 | g.54627661A>T | CA370997253 | RP1 | c.3779A>T (p.Glu1260Val) c.787+5373A>T (n.787+5373A>T) c.3800A>T (p.Glu1267Val) | |
8 | g.54627662G>A | CA461099679 | RP1 | c.3780G>A (p.Glu1260=) c.787+5374G>A (n.787+5374G>A) c.3801G>A (p.Glu1267=) | gnomAD v4 COSMIC |
8 | g.54627662G>C | CA177237746 | RP1 | c.3780G>C (p.Glu1260Asp) c.787+5374G>C (n.787+5374G>C) c.3801G>C (p.Glu1267Asp) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.54627662G= | CA1785188834 | RP1 | c.3780G= (p.Glu1260=) c.787+5374G= (n.787+5374G=) c.3801G= (p.Glu1267=) | |
8 | g.54627662G>T | CA370997256 | RP1 | c.3780G>T (p.Glu1260Asp) c.787+5374G>T (n.787+5374G>T) c.3801G>T (p.Glu1267Asp) | |
8 | g.54627663A= | CA1785188835 | RP1 | c.3781A= (p.Met1261=) c.787+5375A= (n.787+5375A=) c.3802A= (p.Met1268=) | |
8 | g.54627663A>C | CA370997257 | RP1 | c.3781A>C (p.Met1261Leu) c.787+5375A>C (n.787+5375A>C) c.3802A>C (p.Met1268Leu) | |
8 | g.54627663A>G | CA177237749 | RP1 | c.3781A>G (p.Met1261Val) c.787+5375A>G (n.787+5375A>G) c.3802A>G (p.Met1268Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627663A>T | CA370997258 | RP1 | c.3781A>T (p.Met1261Leu) c.787+5375A>T (n.787+5375A>T) c.3802A>T (p.Met1268Leu) | dbSNP |
8 | g.54627664T>A | CA370997259 | RP1 | c.3782T>A (p.Met1261Lys) c.787+5376T>A (n.787+5376T>A) c.3803T>A (p.Met1268Lys) | |
8 | g.54627664T>C | CA370997260 | RP1 | c.3782T>C (p.Met1261Thr) c.787+5376T>C (n.787+5376T>C) c.3803T>C (p.Met1268Thr) | |
8 | g.54627664T>G | CA370997261 | RP1 | c.3782T>G (p.Met1261Arg) c.787+5376T>G (n.787+5376T>G) c.3803T>G (p.Met1268Arg) | |
8 | g.54627665G>A | CA4751747 | RP1 | c.3783G>A (p.Met1261Ile) c.787+5377G>A (n.787+5377G>A) c.3804G>A (p.Met1268Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
8 | g.54627665G>C | CA370997262 | RP1 | c.3783G>C (p.Met1261Ile) c.787+5377G>C (n.787+5377G>C) c.3804G>C (p.Met1268Ile) | |
8 | g.54627665G= | CA1785188836 | RP1 | c.3783G= (p.Met1261=) c.787+5377G= (n.787+5377G=) c.3804G= (p.Met1268=) | |
8 | g.54627665G>T | CA370997263 | RP1 | c.3783G>T (p.Met1261Ile) c.787+5377G>T (n.787+5377G>T) c.3804G>T (p.Met1268Ile) | |
8 | g.54627666T>A | CA370997264 | RP1 | c.3784T>A (p.Cys1262Ser) c.787+5378T>A (n.787+5378T>A) c.3805T>A (p.Cys1269Ser) | |
8 | g.54627666T>C | CA370997265 | RP1 | c.3784T>C (p.Cys1262Arg) c.787+5378T>C (n.787+5378T>C) c.3805T>C (p.Cys1269Arg) | dbSNP |
8 | g.54627666T>G | CA370997266 | RP1 | c.3784T>G (p.Cys1262Gly) c.787+5378T>G (n.787+5378T>G) c.3805T>G (p.Cys1269Gly) | |
8 | g.54627666T= | CA1785188837 | RP1 | c.3784T= (p.Cys1262=) c.787+5378T= (n.787+5378T=) c.3805T= (p.Cys1269=) | |
8 | g.54627667G>A | CA370997269 | RP1 | c.3785G>A (p.Cys1262Tyr) c.787+5379G>A (n.787+5379G>A) c.3806G>A (p.Cys1269Tyr) | dbSNP |
8 | g.54627667G>C | CA370997268 | RP1 | c.3785G>C (p.Cys1262Ser) c.787+5379G>C (n.787+5379G>C) c.3806G>C (p.Cys1269Ser) | |
8 | g.54627667G= | CA1785188838 | RP1 | c.3785G= (p.Cys1262=) c.787+5379G= (n.787+5379G=) c.3806G= (p.Cys1269=) | |
8 | g.54627667G>T | CA370997267 | RP1 | c.3785G>T (p.Cys1262Phe) c.787+5379G>T (n.787+5379G>T) c.3806G>T (p.Cys1269Phe) | |
8 | g.54627668C>A | CA370997270 | RP1 | c.3786C>A (p.Cys1262Ter) c.787+5380C>A (n.787+5380C>A) c.3807C>A (p.Cys1269Ter) | |
8 | g.54627668C= | CA1785188839 | RP1 | c.3786C= (p.Cys1262=) c.787+5380C= (n.787+5380C=) c.3807C= (p.Cys1269=) | |
8 | g.54627668C>G | CA370997271 | RP1 | c.3786C>G (p.Cys1262Trp) c.787+5380C>G (n.787+5380C>G) c.3807C>G (p.Cys1269Trp) | |
8 | g.54627668C>T | CA461099683 | RP1 | c.3786C>T (p.Cys1262=) c.787+5380C>T (n.787+5380C>T) c.3807C>T (p.Cys1269=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627669A= | CA1785188840 | RP1 | c.3787A= (p.Thr1263=) c.787+5381A= (n.787+5381A=) c.3808A= (p.Thr1270=) | |
8 | g.54627669A>C | CA370997272 | RP1 | c.3787A>C (p.Thr1263Pro) c.787+5381A>C (n.787+5381A>C) c.3808A>C (p.Thr1270Pro) | dbSNP gnomAD v4 |
8 | g.54627669A>G | CA370997273 | RP1 | c.3787A>G (p.Thr1263Ala) c.787+5381A>G (n.787+5381A>G) c.3808A>G (p.Thr1270Ala) | gnomAD v4 |
8 | g.54627669A>T | CA370997274 | RP1 | c.3787A>T (p.Thr1263Ser) c.787+5381A>T (n.787+5381A>T) c.3808A>T (p.Thr1270Ser) | |
8 | g.54627670C>A | CA370997275 | RP1 | c.3788C>A (p.Thr1263Asn) c.787+5382C>A (n.787+5382C>A) c.3809C>A (p.Thr1270Asn) | |
8 | g.54627670C= | CA1785188841 | RP1 | c.3788C= (p.Thr1263=) c.787+5382C= (n.787+5382C=) c.3809C= (p.Thr1270=) | |
8 | g.54627670C>G | CA370997276 | RP1 | c.3788C>G (p.Thr1263Ser) c.787+5382C>G (n.787+5382C>G) c.3809C>G (p.Thr1270Ser) | |
8 | g.54627670C>T | CA4751748 | RP1 | c.3788C>T (p.Thr1263Ile) c.787+5382C>T (n.787+5382C>T) c.3809C>T (p.Thr1270Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627672_54627683del | CA2780387038 | RP1 | c.3790_3801del (p.Val1264_Ala1267del) c.787+5384_787+5395del (n.787+5384_787+5395del) c.3811_3822del (p.Val1271_Ala1274del) | |
8 | g.54627671T>A | CA461099686 | RP1 | c.3789T>A (p.Thr1263=) c.787+5383T>A (n.787+5383T>A) c.3810T>A (p.Thr1270=) | |
8 | g.54627671T>C | CA461099687 | RP1 | c.3789T>C (p.Thr1263=) c.787+5383T>C (n.787+5383T>C) c.3810T>C (p.Thr1270=) | gnomAD v4 |
8 | g.54627671T>G | CA461099688 | RP1 | c.3789T>G (p.Thr1263=) c.787+5383T>G (n.787+5383T>G) c.3810T>G (p.Thr1270=) | |
8 | g.54627672_54627673del | CA2580652603 | RP1 | c.3790_3791del (p.Val1264LysfsTer2) c.787+5384_787+5385del (n.787+5384_787+5385del) c.3811_3812del (p.Val1271LysfsTer2) | ClinVar |
8 | g.54627672G>A | CA370997277 | RP1 | c.3790G>A (p.Val1264Ile) c.787+5384G>A (n.787+5384G>A) c.3811G>A (p.Val1271Ile) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54627672G>C | CA370997278 | RP1 | c.3790G>C (p.Val1264Leu) c.787+5384G>C (n.787+5384G>C) c.3811G>C (p.Val1271Leu) | gnomAD v4 |
8 | g.54627672G= | CA1785188842 | RP1 | c.3790G= (p.Val1264=) c.787+5384G= (n.787+5384G=) c.3811G= (p.Val1271=) | |
8 | g.54627672G>T | CA370997279 | RP1 | c.3790G>T (p.Val1264Leu) c.787+5384G>T (n.787+5384G>T) c.3811G>T (p.Val1271Leu) | |
8 | g.54627673T>A | CA370997280 | RP1 | c.3791T>A (p.Val1264Glu) c.787+5385T>A (n.787+5385T>A) c.3812T>A (p.Val1271Glu) | COSMIC |
8 | g.54627673T>C | CA370997281 | RP1 | c.3791T>C (p.Val1264Ala) c.787+5385T>C (n.787+5385T>C) c.3812T>C (p.Val1271Ala) | COSMIC |
8 | g.54627673T>G | CA370997282 | RP1 | c.3791T>G (p.Val1264Gly) c.787+5385T>G (n.787+5385T>G) c.3812T>G (p.Val1271Gly) | |
8 | g.54627674A>C | CA461099691 | RP1 | c.3792A>C (p.Val1264=) c.787+5386A>C (n.787+5386A>C) c.3813A>C (p.Val1271=) | |
8 | g.54627674A>G | CA461099692 | RP1 | c.3792A>G (p.Val1264=) c.787+5386A>G (n.787+5386A>G) c.3813A>G (p.Val1271=) | |
8 | g.54627674A>T | CA461099693 | RP1 | c.3792A>T (p.Val1264=) c.787+5386A>T (n.787+5386A>T) c.3813A>T (p.Val1271=) | |
8 | g.54627675A>C | CA370997284 | RP1 | c.3793A>C (p.Asn1265His) c.787+5387A>C (n.787+5387A>C) c.3814A>C (p.Asn1272His) | |
8 | g.54627675A>G | CA370997285 | RP1 | c.3793A>G (p.Asn1265Asp) c.787+5387A>G (n.787+5387A>G) c.3814A>G (p.Asn1272Asp) | |
8 | g.54627675A>T | CA370997283 | RP1 | c.3793A>T (p.Asn1265Tyr) c.787+5387A>T (n.787+5387A>T) c.3814A>T (p.Asn1272Tyr) | |
8 | g.54627676A>C | CA370997286 | RP1 | c.3794A>C (p.Asn1265Thr) c.787+5388A>C (n.787+5388A>C) c.3815A>C (p.Asn1272Thr) | |
8 | g.54627676A>G | CA370997287 | RP1 | c.3794A>G (p.Asn1265Ser) c.787+5388A>G (n.787+5388A>G) c.3815A>G (p.Asn1272Ser) | gnomAD v4 |
8 | g.54627676A>T | CA370997288 | RP1 | c.3794A>T (p.Asn1265Ile) c.787+5388A>T (n.787+5388A>T) c.3815A>T (p.Asn1272Ile) | |
8 | g.54627677T>A | CA370997289 | RP1 | c.3795T>A (p.Asn1265Lys) c.787+5389T>A (n.787+5389T>A) c.3816T>A (p.Asn1272Lys) | |
8 | g.54627677T>C | CA461099695 | RP1 | c.3795T>C (p.Asn1265=) c.787+5389T>C (n.787+5389T>C) c.3816T>C (p.Asn1272=) | |
8 | g.54627677T>G | CA370997290 | RP1 | c.3795T>G (p.Asn1265Lys) c.787+5389T>G (n.787+5389T>G) c.3816T>G (p.Asn1272Lys) | |
8 | g.54627678A= | CA1785188843 | RP1 | c.3796A= (p.Lys1266=) c.787+5390A= (n.787+5390A=) c.3817A= (p.Lys1273=) | |
8 | g.54627678A>C | CA370997291 | RP1 | c.3796A>C (p.Lys1266Gln) c.787+5390A>C (n.787+5390A>C) c.3817A>C (p.Lys1273Gln) | ClinVar dbSNP gnomAD v4 |
8 | g.54627678A>G | CA370997292 | RP1 | c.3796A>G (p.Lys1266Glu) c.787+5390A>G (n.787+5390A>G) c.3817A>G (p.Lys1273Glu) | |
8 | g.54627678A>T | CA370997293 | RP1 | c.3796A>T (p.Lys1266Ter) c.787+5390A>T (n.787+5390A>T) c.3817A>T (p.Lys1273Ter) | gnomAD v4 |
8 | g.54627679del | CA2573143176 | RP1 | c.3797del (p.Lys1266ArgfsTer28) c.787+5391del (n.787+5391del) c.3818del (p.Lys1273ArgfsTer28) | ClinVar dbSNP |
8 | g.54627679A>C | CA370997294 | RP1 | c.3797A>C (p.Lys1266Thr) c.787+5391A>C (n.787+5391A>C) c.3818A>C (p.Lys1273Thr) | |
8 | g.54627679A>G | CA370997295 | RP1 | c.3797A>G (p.Lys1266Arg) c.787+5391A>G (n.787+5391A>G) c.3818A>G (p.Lys1273Arg) | |
8 | g.54627679A>T | CA370997296 | RP1 | c.3797A>T (p.Lys1266Met) c.787+5391A>T (n.787+5391A>T) c.3818A>T (p.Lys1273Met) | |
8 | g.54627680G>A | CA461099699 | RP1 | c.3798G>A (p.Lys1266=) c.787+5392G>A (n.787+5392G>A) c.3819G>A (p.Lys1273=) | |
8 | g.54627680G>C | CA370997297 | RP1 | c.3798G>C (p.Lys1266Asn) c.787+5392G>C (n.787+5392G>C) c.3819G>C (p.Lys1273Asn) | |
8 | g.54627680G>T | CA370997298 | RP1 | c.3798G>T (p.Lys1266Asn) c.787+5392G>T (n.787+5392G>T) c.3819G>T (p.Lys1273Asn) | |
8 | g.54627681G>A | CA370997301 | RP1 | c.3799G>A (p.Ala1267Thr) c.787+5393G>A (n.787+5393G>A) c.3820G>A (p.Ala1274Thr) | COSMIC |
8 | g.54627681G>C | CA370997299 | RP1 | c.3799G>C (p.Ala1267Pro) c.787+5393G>C (n.787+5393G>C) c.3820G>C (p.Ala1274Pro) | |
8 | g.54627681G>T | CA370997300 | RP1 | c.3799G>T (p.Ala1267Ser) c.787+5393G>T (n.787+5393G>T) c.3820G>T (p.Ala1274Ser) | gnomAD v4 |
8 | g.54627682C>A | CA4751749 | RP1 | c.3800C>A (p.Ala1267Asp) c.787+5394C>A (n.787+5394C>A) c.3821C>A (p.Ala1274Asp) | ClinVar dbSNP ExAC gnomAD v2 |
8 | g.54627682C= | CA1785188844 | RP1 | c.3800C= (p.Ala1267=) c.787+5394C= (n.787+5394C=) c.3821C= (p.Ala1274=) | |
8 | g.54627682C>G | CA370997302 | RP1 | c.3800C>G (p.Ala1267Gly) c.787+5394C>G (n.787+5394C>G) c.3821C>G (p.Ala1274Gly) | |
8 | g.54627682C>T | CA370997303 | RP1 | c.3800C>T (p.Ala1267Val) c.787+5394C>T (n.787+5394C>T) c.3821C>T (p.Ala1274Val) | |
8 | g.54627683T>A | CA461099703 | RP1 | c.3801T>A (p.Ala1267=) c.787+5395T>A (n.787+5395T>A) c.3822T>A (p.Ala1274=) | |
8 | g.54627683T>C | CA461099704 | RP1 | c.3801T>C (p.Ala1267=) c.787+5395T>C (n.787+5395T>C) c.3822T>C (p.Ala1274=) | |
8 | g.54627683T>G | CA461099705 | RP1 | c.3801T>G (p.Ala1267=) c.787+5395T>G (n.787+5395T>G) c.3822T>G (p.Ala1274=) | |
8 | g.54627684T>A | CA370997304 | RP1 | c.3802T>A (p.Tyr1268Asn) c.787+5396T>A (n.787+5396T>A) c.3823T>A (p.Tyr1275Asn) | |
8 | g.54627684T>C | CA370997305 | RP1 | c.3802T>C (p.Tyr1268His) c.787+5396T>C (n.787+5396T>C) c.3823T>C (p.Tyr1275His) | |
8 | g.54627684T>G | CA370997306 | RP1 | c.3802T>G (p.Tyr1268Asp) c.787+5396T>G (n.787+5396T>G) c.3823T>G (p.Tyr1275Asp) | |
8 | g.54627685A>C | CA370997307 | RP1 | c.3803A>C (p.Tyr1268Ser) c.787+5397A>C (n.787+5397A>C) c.3824A>C (p.Tyr1275Ser) | |
8 | g.54627685A>G | CA370997308 | RP1 | c.3803A>G (p.Tyr1268Cys) c.787+5397A>G (n.787+5397A>G) c.3824A>G (p.Tyr1275Cys) | gnomAD v3 gnomAD v4 |
8 | g.54627685A>T | CA370997309 | RP1 | c.3803A>T (p.Tyr1268Phe) c.787+5397A>T (n.787+5397A>T) c.3824A>T (p.Tyr1275Phe) | |
8 | g.54627686T>A | CA370997310 | RP1 | c.3804T>A (p.Tyr1268Ter) c.787+5398T>A (n.787+5398T>A) c.3825T>A (p.Tyr1275Ter) | |
8 | g.54627686T>C | CA461099709 | RP1 | c.3804T>C (p.Tyr1268=) c.787+5398T>C (n.787+5398T>C) c.3825T>C (p.Tyr1275=) | |
8 | g.54627686T>G | CA370997311 | RP1 | c.3804T>G (p.Tyr1268Ter) c.787+5398T>G (n.787+5398T>G) c.3825T>G (p.Tyr1275Ter) | |
8 | g.54627687T>A | CA370997314 | RP1 | c.3805T>A (p.Ser1269Thr) c.787+5399T>A (n.787+5399T>A) c.3826T>A (p.Ser1276Thr) | |
8 | g.54627687T>C | CA370997313 | RP1 | c.3805T>C (p.Ser1269Pro) c.787+5399T>C (n.787+5399T>C) c.3826T>C (p.Ser1276Pro) | |
8 | g.54627687T>G | CA370997312 | RP1 | c.3805T>G (p.Ser1269Ala) c.787+5399T>G (n.787+5399T>G) c.3826T>G (p.Ser1276Ala) | |
8 | g.54627688C>A | CA370997315 | RP1 | c.3806C>A (p.Ser1269Tyr) c.787+5400C>A (n.787+5400C>A) c.3827C>A (p.Ser1276Tyr) | |
8 | g.54627688C= | CA1785188845 | RP1 | c.3806C= (p.Ser1269=) c.787+5400C= (n.787+5400C=) c.3827C= (p.Ser1276=) | |
8 | g.54627688C>G | CA370997317 | RP1 | c.3806C>G (p.Ser1269Cys) c.787+5400C>G (n.787+5400C>G) c.3827C>G (p.Ser1276Cys) | |
8 | g.54627688C>T | CA370997316 | RP1 | c.3806C>T (p.Ser1269Phe) c.787+5400C>T (n.787+5400C>T) c.3827C>T (p.Ser1276Phe) | ClinVar dbSNP |
8 | g.54627689T>A | CA461099711 | RP1 | c.3807T>A (p.Ser1269=) c.787+5401T>A (n.787+5401T>A) c.3828T>A (p.Ser1276=) | |
8 | g.54627689T>C | CA461099712 | RP1 | c.3807T>C (p.Ser1269=) c.787+5401T>C (n.787+5401T>C) c.3828T>C (p.Ser1276=) | |
8 | g.54627689T>G | CA461099713 | RP1 | c.3807T>G (p.Ser1269=) c.787+5401T>G (n.787+5401T>G) c.3828T>G (p.Ser1276=) | |
8 | g.54627690C>A | CA370997318 | RP1 | c.3808C>A (p.Pro1270Thr) c.787+5402C>A (n.787+5402C>A) c.3829C>A (p.Pro1277Thr) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.54627690C= | CA1785188846 | RP1 | c.3808C= (p.Pro1270=) c.787+5402C= (n.787+5402C=) c.3829C= (p.Pro1277=) | |
8 | g.54627690C>G | CA370997319 | RP1 | c.3808C>G (p.Pro1270Ala) c.787+5402C>G (n.787+5402C>G) c.3829C>G (p.Pro1277Ala) | |
8 | g.54627690C>T | CA370997320 | RP1 | c.3808C>T (p.Pro1270Ser) c.787+5402C>T (n.787+5402C>T) c.3829C>T (p.Pro1277Ser) | dbSNP gnomAD v4 |
8 | g.54627691C>A | CA370997321 | RP1 | c.3809C>A (p.Pro1270Gln) c.787+5403C>A (n.787+5403C>A) c.3830C>A (p.Pro1277Gln) | |
8 | g.54627691C>G | CA370997322 | RP1 | c.3809C>G (p.Pro1270Arg) c.787+5403C>G (n.787+5403C>G) c.3830C>G (p.Pro1277Arg) | |
8 | g.54627691C>T | CA370997323 | RP1 | c.3809C>T (p.Pro1270Leu) c.787+5403C>T (n.787+5403C>T) c.3830C>T (p.Pro1277Leu) | gnomAD v4 |
8 | g.54627692A>C | CA461099714 | RP1 | c.3810A>C (p.Pro1270=) c.787+5404A>C (n.787+5404A>C) c.3831A>C (p.Pro1277=) | |
8 | g.54627692A>G | CA461099715 | RP1 | c.3810A>G (p.Pro1270=) c.787+5404A>G (n.787+5404A>G) c.3831A>G (p.Pro1277=) | gnomAD v4 |
8 | g.54627692A>T | CA461099716 | RP1 | c.3810A>T (p.Pro1270=) c.787+5404A>T (n.787+5404A>T) c.3831A>T (p.Pro1277=) | |
8 | g.54627693A= | CA1785188847 | RP1 | c.3811A= (p.Lys1271=) c.787+5405A= (n.787+5405A=) c.3832A= (p.Lys1278=) | |
8 | g.54627693A>C | CA370997324 | RP1 | c.3811A>C (p.Lys1271Gln) c.787+5405A>C (n.787+5405A>C) c.3832A>C (p.Lys1278Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.54627693A>G | CA4751750 | RP1 | c.3811A>G (p.Lys1271Glu) c.787+5405A>G (n.787+5405A>G) c.3832A>G (p.Lys1278Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627693A>T | CA370997325 | RP1 | c.3811A>T (p.Lys1271Ter) c.787+5405A>T (n.787+5405A>T) c.3832A>T (p.Lys1278Ter) | |
8 | g.54627694A>C | CA370997326 | RP1 | c.3812A>C (p.Lys1271Thr) c.787+5406A>C (n.787+5406A>C) c.3833A>C (p.Lys1278Thr) | |
8 | g.54627694A>G | CA370997327 | RP1 | c.3812A>G (p.Lys1271Arg) c.787+5406A>G (n.787+5406A>G) c.3833A>G (p.Lys1278Arg) | |
8 | g.54627694A>T | CA370997328 | RP1 | c.3812A>T (p.Lys1271Ile) c.787+5406A>T (n.787+5406A>T) c.3833A>T (p.Lys1278Ile) | |
8 | g.54627695A>C | CA370997329 | RP1 | c.3813A>C (p.Lys1271Asn) c.787+5407A>C (n.787+5407A>C) c.3834A>C (p.Lys1278Asn) | |
8 | g.54627695A>G | CA461099717 | RP1 | c.3813A>G (p.Lys1271=) c.787+5407A>G (n.787+5407A>G) c.3834A>G (p.Lys1278=) | |
8 | g.54627695A>T | CA370997330 | RP1 | c.3813A>T (p.Lys1271Asn) c.787+5407A>T (n.787+5407A>T) c.3834A>T (p.Lys1278Asn) | |
8 | g.54627696G>A | CA370997331 | RP1 | c.3814G>A (p.Glu1272Lys) c.787+5408G>A (n.787+5408G>A) c.3835G>A (p.Glu1279Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.54627696G>C | CA370997332 | RP1 | c.3814G>C (p.Glu1272Gln) c.787+5408G>C (n.787+5408G>C) c.3835G>C (p.Glu1279Gln) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54627696G= | CA1785188848 | RP1 | c.3814G= (p.Glu1272=) c.787+5408G= (n.787+5408G=) c.3835G= (p.Glu1279=) | |
8 | g.54627696G>T | CA370997333 | RP1 | c.3814G>T (p.Glu1272Ter) c.787+5408G>T (n.787+5408G>T) c.3835G>T (p.Glu1279Ter) | |
8 | g.54627697A>C | CA370997334 | RP1 | c.3815A>C (p.Glu1272Ala) c.787+5409A>C (n.787+5409A>C) c.3836A>C (p.Glu1279Ala) | |
8 | g.54627697A>G | CA370997335 | RP1 | c.3815A>G (p.Glu1272Gly) c.787+5409A>G (n.787+5409A>G) c.3836A>G (p.Glu1279Gly) | |
8 | g.54627697A>T | CA370997336 | RP1 | c.3815A>T (p.Glu1272Val) c.787+5409A>T (n.787+5409A>T) c.3836A>T (p.Glu1279Val) | |
8 | g.54627698G>A | CA461099718 | RP1 | c.3816G>A (p.Glu1272=) c.787+5410G>A (n.787+5410G>A) c.3837G>A (p.Glu1279=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627698G>C | CA370997337 | RP1 | c.3816G>C (p.Glu1272Asp) c.787+5410G>C (n.787+5410G>C) c.3837G>C (p.Glu1279Asp) | |
8 | g.54627698G= | CA1785188849 | RP1 | c.3816G= (p.Glu1272=) c.787+5410G= (n.787+5410G=) c.3837G= (p.Glu1279=) | |
8 | g.54627698G>T | CA4751751 | RP1 | c.3816G>T (p.Glu1272Asp) c.787+5410G>T (n.787+5410G>T) c.3837G>T (p.Glu1279Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627699A>C | CA370997338 | RP1 | c.3817A>C (p.Thr1273Pro) c.787+5411A>C (n.787+5411A>C) c.3838A>C (p.Thr1280Pro) | |
8 | g.54627699A>G | CA370997339 | RP1 | c.3817A>G (p.Thr1273Ala) c.787+5411A>G (n.787+5411A>G) c.3838A>G (p.Thr1280Ala) | |
8 | g.54627699A>T | CA370997340 | RP1 | c.3817A>T (p.Thr1273Ser) c.787+5411A>T (n.787+5411A>T) c.3838A>T (p.Thr1280Ser) | |
8 | g.54627700C>A | CA370997342 | RP1 | c.3818C>A (p.Thr1273Lys) c.787+5412C>A (n.787+5412C>A) c.3839C>A (p.Thr1280Lys) | COSMIC |
8 | g.54627700C= | CA1785188850 | RP1 | c.3818C= (p.Thr1273=) c.787+5412C= (n.787+5412C=) c.3839C= (p.Thr1280=) | |
8 | g.54627700C>G | CA370997343 | RP1 | c.3818C>G (p.Thr1273Arg) c.787+5412C>G (n.787+5412C>G) c.3839C>G (p.Thr1280Arg) | |
8 | g.54627700C>T | CA370997341 | RP1 | c.3818C>T (p.Thr1273Ile) c.787+5412C>T (n.787+5412C>T) c.3839C>T (p.Thr1280Ile) | dbSNP gnomAD v4 |
8 | g.54627701A= | CA1785188851 | RP1 | c.3819A= (p.Thr1273=) c.787+5413A= (n.787+5413A=) c.3840A= (p.Thr1280=) | |
8 | g.54627701A>C | CA461099719 | RP1 | c.3819A>C (p.Thr1273=) c.787+5413A>C (n.787+5413A>C) c.3840A>C (p.Thr1280=) | gnomAD v4 |
8 | g.54627701A>G | CA4751752 | RP1 | c.3819A>G (p.Thr1273=) c.787+5413A>G (n.787+5413A>G) c.3840A>G (p.Thr1280=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54627701A>T | CA461099720 | RP1 | c.3819A>T (p.Thr1273=) c.787+5413A>T (n.787+5413A>T) c.3840A>T (p.Thr1280=) | gnomAD v4 |
8 | g.54627702T>A | CA370997344 | RP1 | c.3820T>A (p.Cys1274Ser) c.787+5414T>A (n.787+5414T>A) c.3841T>A (p.Cys1281Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54627702T>C | CA4751753 | RP1 | c.3820T>C (p.Cys1274Arg) c.787+5414T>C (n.787+5414T>C) c.3841T>C (p.Cys1281Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54627702T>G | CA370997345 | RP1 | c.3820T>G (p.Cys1274Gly) c.787+5414T>G (n.787+5414T>G) c.3841T>G (p.Cys1281Gly) | gnomAD v4 |
8 | g.54627702T= | CA1785188852 | RP1 | c.3820T= (p.Cys1274=) c.787+5414T= (n.787+5414T=) c.3841T= (p.Cys1281=) | |
8 | g.54627703G>A | CA4751754 | RP1 | c.3821G>A (p.Cys1274Tyr) c.787+5415G>A (n.787+5415G>A) c.3842G>A (p.Cys1281Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54627703G>C | CA370997346 | RP1 | c.3821G>C (p.Cys1274Ser) c.787+5415G>C (n.787+5415G>C) c.3842G>C (p.Cys1281Ser) | dbSNP |
8 | g.54627703G= | CA1785188853 | RP1 | c.3821G= (p.Cys1274=) c.787+5415G= (n.787+5415G=) c.3842G= (p.Cys1281=) | |
8 | g.54627703G>T | CA370997347 | RP1 | c.3821G>T (p.Cys1274Phe) c.787+5415G>T (n.787+5415G>T) c.3842G>T (p.Cys1281Phe) | |
8 | g.54627704T>A | CA370997348 | RP1 | c.3822T>A (p.Cys1274Ter) c.787+5416T>A (n.787+5416T>A) c.3843T>A (p.Cys1281Ter) | |
8 | g.54627704T>C | CA461099721 | RP1 | c.3822T>C (p.Cys1274=) c.787+5416T>C (n.787+5416T>C) c.3843T>C (p.Cys1281=) | |
8 | g.54627704T>G | CA370997349 | RP1 | c.3822T>G (p.Cys1274Trp) c.787+5416T>G (n.787+5416T>G) c.3843T>G (p.Cys1281Trp) | |
8 | g.54627705A>C | CA370997350 | RP1 | c.3823A>C (p.Asn1275His) c.787+5417A>C (n.787+5417A>C) c.3844A>C (p.Asn1282His) | |
8 | g.54627705A>G | CA370997351 | RP1 | c.3823A>G (p.Asn1275Asp) c.787+5417A>G (n.787+5417A>G) c.3844A>G (p.Asn1282Asp) | |
8 | g.54627705A>T | CA370997352 | RP1 | c.3823A>T (p.Asn1275Tyr) c.787+5417A>T (n.787+5417A>T) c.3844A>T (p.Asn1282Tyr) | |
8 | g.54627706A= | CA1785188854 | RP1 | c.3824A= (p.Asn1275=) c.787+5418A= (n.787+5418A=) c.3845A= (p.Asn1282=) | |
8 | g.54627706A>C | CA370997354 | RP1 | c.3824A>C (p.Asn1275Thr) c.787+5418A>C (n.787+5418A>C) c.3845A>C (p.Asn1282Thr) | |
8 | g.54627706A>G | CA370997355 | RP1 | c.3824A>G (p.Asn1275Ser) c.787+5418A>G (n.787+5418A>G) c.3845A>G (p.Asn1282Ser) | |
8 | g.54627706A>T | CA370997353 | RP1 | c.3824A>T (p.Asn1275Ile) c.787+5418A>T (n.787+5418A>T) c.3845A>T (p.Asn1282Ile) | |
8 | g.54627707C>A | CA370997356 | RP1 | c.3825C>A (p.Asn1275Lys) c.787+5419C>A (n.787+5419C>A) c.3846C>A (p.Asn1282Lys) | |
8 | g.54627707C>G | CA370997357 | RP1 | c.3825C>G (p.Asn1275Lys) c.787+5419C>G (n.787+5419C>G) c.3846C>G (p.Asn1282Lys) | |
8 | g.54627707C>T | CA461099722 | RP1 | c.3825C>T (p.Asn1275=) c.787+5419C>T (n.787+5419C>T) c.3846C>T (p.Asn1282=) | |
8 | g.54627710dup | CA177237769 | RP1 | c.3828dup (p.Ser1277GlnfsTer2) c.787+5422dup (n.787+5422dup) c.3849dup (p.Ser1284GlnfsTer2) | dbSNP |
8 | g.54627708C>A | CA370997358 | RP1 | c.3826C>A (p.Pro1276Thr) c.787+5420C>A (n.787+5420C>A) c.3847C>A (p.Pro1283Thr) | |
8 | g.54627708C= | CA1785188855 | RP1 | c.3826C= (p.Pro1276=) c.787+5420C= (n.787+5420C=) c.3847C= (p.Pro1283=) | |
8 | g.54627708C>G | CA370997359 | RP1 | c.3826C>G (p.Pro1276Ala) c.787+5420C>G (n.787+5420C>G) c.3847C>G (p.Pro1283Ala) | |
8 | g.54627708C>T | CA245314 | RP1 | c.3826C>T (p.Pro1276Ser) c.787+5420C>T (n.787+5420C>T) c.3847C>T (p.Pro1283Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627709C>A | CA370997362 | RP1 | c.3827C>A (p.Pro1276His) c.787+5421C>A (n.787+5421C>A) c.3848C>A (p.Pro1283His) | |
8 | g.54627709C= | CA1785188856 | RP1 | c.3827C= (p.Pro1276=) c.787+5421C= (n.787+5421C=) c.3848C= (p.Pro1283=) | |
8 | g.54627709C>G | CA370997360 | RP1 | c.3827C>G (p.Pro1276Arg) c.787+5421C>G (n.787+5421C>G) c.3848C>G (p.Pro1283Arg) | gnomAD v4 |
8 | g.54627709C>T | CA370997361 | RP1 | c.3827C>T (p.Pro1276Leu) c.787+5421C>T (n.787+5421C>T) c.3848C>T (p.Pro1283Leu) | ClinVar dbSNP |
8 | g.54627709_54627719del | CA2740095046 | RP1 | c.3827_3837del (p.Pro1276LeufsTer4) c.787+5421_787+5431del (n.787+5421_787+5431del) c.3848_3858del (p.Pro1283LeufsTer4) | ClinVar |
8 | g.54627710C>A | CA461099723 | RP1 | c.3828C>A (p.Pro1276=) c.787+5422C>A (n.787+5422C>A) c.3849C>A (p.Pro1283=) | |
8 | g.54627710C>G | CA461099724 | RP1 | c.3828C>G (p.Pro1276=) c.787+5422C>G (n.787+5422C>G) c.3849C>G (p.Pro1283=) | |
8 | g.54627710C>T | CA461099725 | RP1 | c.3828C>T (p.Pro1276=) c.787+5422C>T (n.787+5422C>T) c.3849C>T (p.Pro1283=) | |
8 | g.54627711A= | CA1785188857 | RP1 | c.3829A= (p.Ser1277=) c.787+5423A= (n.787+5423A=) c.3850A= (p.Ser1284=) | |
8 | g.54627711A>C | CA370997363 | RP1 | c.3829A>C (p.Ser1277Arg) c.787+5423A>C (n.787+5423A>C) c.3850A>C (p.Ser1284Arg) | |
8 | g.54627711A>G | CA370997364 | RP1 | c.3829A>G (p.Ser1277Gly) c.787+5423A>G (n.787+5423A>G) c.3850A>G (p.Ser1284Gly) | dbSNP gnomAD v4 |
8 | g.54627711A>T | CA370997365 | RP1 | c.3829A>T (p.Ser1277Cys) c.787+5423A>T (n.787+5423A>T) c.3850A>T (p.Ser1284Cys) | |
8 | g.54627712G>A | CA370997366 | RP1 | c.3830G>A (p.Ser1277Asn) c.787+5424G>A (n.787+5424G>A) c.3851G>A (p.Ser1284Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.54627712G>C | CA370997367 | RP1 | c.3830G>C (p.Ser1277Thr) c.787+5424G>C (n.787+5424G>C) c.3851G>C (p.Ser1284Thr) | |
8 | g.54627712G= | CA1785188858 | RP1 | c.3830G= (p.Ser1277=) c.787+5424G= (n.787+5424G=) c.3851G= (p.Ser1284=) | |
8 | g.54627712G>T | CA370997368 | RP1 | c.3830G>T (p.Ser1277Ile) c.787+5424G>T (n.787+5424G>T) c.3851G>T (p.Ser1284Ile) | |
8 | g.54627713T>A | CA370997370 | RP1 | c.3831T>A (p.Ser1277Arg) c.787+5425T>A (n.787+5425T>A) c.3852T>A (p.Ser1284Arg) | |
8 | g.54627713T>C | CA461099726 | RP1 | c.3831T>C (p.Ser1277=) c.787+5425T>C (n.787+5425T>C) c.3852T>C (p.Ser1284=) | |
8 | g.54627713T>G | CA370997369 | RP1 | c.3831T>G (p.Ser1277Arg) c.787+5425T>G (n.787+5425T>G) c.3852T>G (p.Ser1284Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627713T= | CA1785188859 | RP1 | c.3831T= (p.Ser1277=) c.787+5425T= (n.787+5425T=) c.3852T= (p.Ser1284=) | |
8 | g.54627714G>A | CA370997371 | RP1 | c.3832G>A (p.Asp1278Asn) c.787+5426G>A (n.787+5426G>A) c.3853G>A (p.Asp1285Asn) | |
8 | g.54627714G>C | CA370997373 | RP1 | c.3832G>C (p.Asp1278His) c.787+5426G>C (n.787+5426G>C) c.3853G>C (p.Asp1285His) | |
8 | g.54627714G>T | CA370997372 | RP1 | c.3832G>T (p.Asp1278Tyr) c.787+5426G>T (n.787+5426G>T) c.3853G>T (p.Asp1285Tyr) | |
8 | g.54627715A>C | CA370997374 | RP1 | c.3833A>C (p.Asp1278Ala) c.787+5427A>C (n.787+5427A>C) c.3854A>C (p.Asp1285Ala) | |
8 | g.54627715A>G | CA370997376 | RP1 | c.3833A>G (p.Asp1278Gly) c.787+5427A>G (n.787+5427A>G) c.3854A>G (p.Asp1285Gly) | |
8 | g.54627715A>T | CA370997375 | RP1 | c.3833A>T (p.Asp1278Val) c.787+5427A>T (n.787+5427A>T) c.3854A>T (p.Asp1285Val) | |
8 | g.54627716C>A | CA370997377 | RP1 | c.3834C>A (p.Asp1278Glu) c.787+5428C>A (n.787+5428C>A) c.3855C>A (p.Asp1285Glu) | |
8 | g.54627716C= | CA1785188860 | RP1 | c.3834C= (p.Asp1278=) c.787+5428C= (n.787+5428C=) c.3855C= (p.Asp1285=) | |
8 | g.54627716C>G | CA370997378 | RP1 | c.3834C>G (p.Asp1278Glu) c.787+5428C>G (n.787+5428C>G) c.3855C>G (p.Asp1285Glu) | |
8 | g.54627716C>T | CA461099727 | RP1 | c.3834C>T (p.Asp1278=) c.787+5428C>T (n.787+5428C>T) c.3855C>T (p.Asp1285=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54627717A= | CA1785188861 | RP1 | c.3835A= (p.Thr1279=) c.787+5429A= (n.787+5429A=) c.3856A= (p.Thr1286=) | |
8 | g.54627717A>C | CA370997379 | RP1 | c.3835A>C (p.Thr1279Pro) c.787+5429A>C (n.787+5429A>C) c.3856A>C (p.Thr1286Pro) | |
8 | g.54627717A>G | CA370997380 | RP1 | c.3835A>G (p.Thr1279Ala) c.787+5429A>G (n.787+5429A>G) c.3856A>G (p.Thr1286Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627717A>T | CA370997381 | RP1 | c.3835A>T (p.Thr1279Ser) c.787+5429A>T (n.787+5429A>T) c.3856A>T (p.Thr1286Ser) |