| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.54628134G>A | CA370981787 | RP1 | c.4252G>A (p.Asp1418Asn) c.787+5846G>A (n.787+5846G>A) c.4273G>A (p.Asp1425Asn) | |
| 8 | g.54628134G>C | CA370981788 | RP1 | c.4252G>C (p.Asp1418His) c.787+5846G>C (n.787+5846G>C) c.4273G>C (p.Asp1425His) | |
| 8 | g.54628134G>T | CA370981789 | RP1 | c.4252G>T (p.Asp1418Tyr) c.787+5846G>T (n.787+5846G>T) c.4273G>T (p.Asp1425Tyr) | |
| 8 | g.54628135A= | CA1785189049 | RP1 | c.4253A= (p.Asp1418=) c.787+5847A= (n.787+5847A=) c.4274A= (p.Asp1425=) | |
| 8 | g.54628135A>C | CA370981790 | RP1 | c.4253A>C (p.Asp1418Ala) c.787+5847A>C (n.787+5847A>C) c.4274A>C (p.Asp1425Ala) | ClinVar |
| 8 | g.54628135A>G | CA4751830 | RP1 | c.4253A>G (p.Asp1418Gly) c.787+5847A>G (n.787+5847A>G) c.4274A>G (p.Asp1425Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54628135A>T | CA370981791 | RP1 | c.4253A>T (p.Asp1418Val) c.787+5847A>T (n.787+5847A>T) c.4274A>T (p.Asp1425Val) | |
| 8 | g.54628136T>A | CA370981792 | RP1 | c.4254T>A (p.Asp1418Glu) c.787+5848T>A (n.787+5848T>A) c.4275T>A (p.Asp1425Glu) | |
| 8 | g.54628136T>C | CA461099957 | RP1 | c.4254T>C (p.Asp1418=) c.787+5848T>C (n.787+5848T>C) c.4275T>C (p.Asp1425=) | |
| 8 | g.54628136T>G | CA370981793 | RP1 | c.4254T>G (p.Asp1418Glu) c.787+5848T>G (n.787+5848T>G) c.4275T>G (p.Asp1425Glu) | |
| 8 | g.54628137G>A | CA177181551 | RP1 | c.4255G>A (p.Asp1419Asn) c.787+5849G>A (n.787+5849G>A) c.4276G>A (p.Asp1426Asn) | dbSNP |
| 8 | g.54628137G>C | CA370981795 | RP1 | c.4255G>C (p.Asp1419His) c.787+5849G>C (n.787+5849G>C) c.4276G>C (p.Asp1426His) | |
| 8 | g.54628137G= | CA1785189050 | RP1 | c.4255G= (p.Asp1419=) c.787+5849G= (n.787+5849G=) c.4276G= (p.Asp1426=) | |
| 8 | g.54628137G>T | CA370981794 | RP1 | c.4255G>T (p.Asp1419Tyr) c.787+5849G>T (n.787+5849G>T) c.4276G>T (p.Asp1426Tyr) | gnomAD v4 |
| 8 | g.54628138A>C | CA370981796 | RP1 | c.4256A>C (p.Asp1419Ala) c.787+5850A>C (n.787+5850A>C) c.4277A>C (p.Asp1426Ala) | |
| 8 | g.54628138A>G | CA370981797 | RP1 | c.4256A>G (p.Asp1419Gly) c.787+5850A>G (n.787+5850A>G) c.4277A>G (p.Asp1426Gly) | |
| 8 | g.54628138A>T | CA370981798 | RP1 | c.4256A>T (p.Asp1419Val) c.787+5850A>T (n.787+5850A>T) c.4277A>T (p.Asp1426Val) | |
| 8 | g.54628139T>A | CA370981799 | RP1 | c.4257T>A (p.Asp1419Glu) c.787+5851T>A (n.787+5851T>A) c.4278T>A (p.Asp1426Glu) | |
| 8 | g.54628139T>C | CA461099965 | RP1 | c.4257T>C (p.Asp1419=) c.787+5851T>C (n.787+5851T>C) c.4278T>C (p.Asp1426=) | |
| 8 | g.54628139T>G | CA370981800 | RP1 | c.4257T>G (p.Asp1419Glu) c.787+5851T>G (n.787+5851T>G) c.4278T>G (p.Asp1426Glu) | |
| 8 | g.54628140T>A | CA370981801 | RP1 | c.4258T>A (p.Phe1420Ile) c.787+5852T>A (n.787+5852T>A) c.4279T>A (p.Phe1427Ile) | |
| 8 | g.54628140T>C | CA370981802 | RP1 | c.4258T>C (p.Phe1420Leu) c.787+5852T>C (n.787+5852T>C) c.4279T>C (p.Phe1427Leu) | |
| 8 | g.54628140T>G | CA370981803 | RP1 | c.4258T>G (p.Phe1420Val) c.787+5852T>G (n.787+5852T>G) c.4279T>G (p.Phe1427Val) | |
| 8 | g.54628141T>A | CA370981804 | RP1 | c.4259T>A (p.Phe1420Tyr) c.787+5853T>A (n.787+5853T>A) c.4280T>A (p.Phe1427Tyr) | |
| 8 | g.54628141T>C | CA370981805 | RP1 | c.4259T>C (p.Phe1420Ser) c.787+5853T>C (n.787+5853T>C) c.4280T>C (p.Phe1427Ser) | |
| 8 | g.54628141T>G | CA370981806 | RP1 | c.4259T>G (p.Phe1420Cys) c.787+5853T>G (n.787+5853T>G) c.4280T>G (p.Phe1427Cys) | |
| 8 | g.54628142T>A | CA370981807 | RP1 | c.4260T>A (p.Phe1420Leu) c.787+5854T>A (n.787+5854T>A) c.4281T>A (p.Phe1427Leu) | |
| 8 | g.54628142T>C | CA461099968 | RP1 | c.4260T>C (p.Phe1420=) c.787+5854T>C (n.787+5854T>C) c.4281T>C (p.Phe1427=) | |
| 8 | g.54628142T>G | CA370981808 | RP1 | c.4260T>G (p.Phe1420Leu) c.787+5854T>G (n.787+5854T>G) c.4281T>G (p.Phe1427Leu) | |
| 8 | g.54628143G>A | CA370981811 | RP1 | c.4261G>A (p.Glu1421Lys) c.787+5855G>A (n.787+5855G>A) c.4282G>A (p.Glu1428Lys) | COSMIC |
| 8 | g.54628143G>C | CA370981810 | RP1 | c.4261G>C (p.Glu1421Gln) c.787+5855G>C (n.787+5855G>C) c.4282G>C (p.Glu1428Gln) | |
| 8 | g.54628143G= | CA1785189051 | RP1 | c.4261G= (p.Glu1421=) c.787+5855G= (n.787+5855G=) c.4282G= (p.Glu1428=) | |
| 8 | g.54628143G>T | CA370981809 | RP1 | c.4261G>T (p.Glu1421Ter) c.787+5855G>T (n.787+5855G>T) c.4282G>T (p.Glu1428Ter) | dbSNP gnomAD v2 |
| 8 | g.54628144A= | CA1785189052 | RP1 | c.4262A= (p.Glu1421=) c.787+5856A= (n.787+5856A=) c.4283A= (p.Glu1428=) | |
| 8 | g.54628144A>C | CA4751831 | RP1 | c.4262A>C (p.Glu1421Ala) c.787+5856A>C (n.787+5856A>C) c.4283A>C (p.Glu1428Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628144A>G | CA370981812 | RP1 | c.4262A>G (p.Glu1421Gly) c.787+5856A>G (n.787+5856A>G) c.4283A>G (p.Glu1428Gly) | |
| 8 | g.54628144A>T | CA370981813 | RP1 | c.4262A>T (p.Glu1421Val) c.787+5856A>T (n.787+5856A>T) c.4283A>T (p.Glu1428Val) | |
| 8 | g.54628145A>C | CA370981814 | RP1 | c.4263A>C (p.Glu1421Asp) c.787+5857A>C (n.787+5857A>C) c.4284A>C (p.Glu1428Asp) | |
| 8 | g.54628145A>G | CA461099971 | RP1 | c.4263A>G (p.Glu1421=) c.787+5857A>G (n.787+5857A>G) c.4284A>G (p.Glu1428=) | |
| 8 | g.54628145A>T | CA370981815 | RP1 | c.4263A>T (p.Glu1421Asp) c.787+5857A>T (n.787+5857A>T) c.4284A>T (p.Glu1428Asp) | |
| 8 | g.54628146A>C | CA370981816 | RP1 | c.4264A>C (p.Asn1422His) c.787+5858A>C (n.787+5858A>C) c.4285A>C (p.Asn1429His) | |
| 8 | g.54628146A>G | CA370981817 | RP1 | c.4264A>G (p.Asn1422Asp) c.787+5858A>G (n.787+5858A>G) c.4285A>G (p.Asn1429Asp) | |
| 8 | g.54628146A>T | CA370981818 | RP1 | c.4264A>T (p.Asn1422Tyr) c.787+5858A>T (n.787+5858A>T) c.4285A>T (p.Asn1429Tyr) | |
| 8 | g.54628147A>C | CA370981819 | RP1 | c.4265A>C (p.Asn1422Thr) c.787+5859A>C (n.787+5859A>C) c.4286A>C (p.Asn1429Thr) | |
| 8 | g.54628147A>G | CA370981820 | RP1 | c.4265A>G (p.Asn1422Ser) c.787+5859A>G (n.787+5859A>G) c.4286A>G (p.Asn1429Ser) | |
| 8 | g.54628147A>T | CA370981821 | RP1 | c.4265A>T (p.Asn1422Ile) c.787+5859A>T (n.787+5859A>T) c.4286A>T (p.Asn1429Ile) | |
| 8 | g.54628148T>A | CA370981822 | RP1 | c.4266T>A (p.Asn1422Lys) c.787+5860T>A (n.787+5860T>A) c.4287T>A (p.Asn1429Lys) | dbSNP |
| 8 | g.54628148T>C | CA461099975 | RP1 | c.4266T>C (p.Asn1422=) c.787+5860T>C (n.787+5860T>C) c.4287T>C (p.Asn1429=) | dbSNP gnomAD v4 |
| 8 | g.54628148T>G | CA370981823 | RP1 | c.4266T>G (p.Asn1422Lys) c.787+5860T>G (n.787+5860T>G) c.4287T>G (p.Asn1429Lys) | |
| 8 | g.54628148T= | CA1785189053 | RP1 | c.4266T= (p.Asn1422=) c.787+5860T= (n.787+5860T=) c.4287T= (p.Asn1429=) | |
| 8 | g.54628149T>A | CA370981825 | RP1 | c.4267T>A (p.Cys1423Ser) c.787+5861T>A (n.787+5861T>A) c.4288T>A (p.Cys1430Ser) | ClinVar |
| 8 | g.54628149T>C | CA370981826 | RP1 | c.4267T>C (p.Cys1423Arg) c.787+5861T>C (n.787+5861T>C) c.4288T>C (p.Cys1430Arg) | dbSNP gnomAD v2 |
| 8 | g.54628149T>G | CA370981824 | RP1 | c.4267T>G (p.Cys1423Gly) c.787+5861T>G (n.787+5861T>G) c.4288T>G (p.Cys1430Gly) | |
| 8 | g.54628149T= | CA1785189054 | RP1 | c.4267T= (p.Cys1423=) c.787+5861T= (n.787+5861T=) c.4288T= (p.Cys1430=) | |
| 8 | g.54628150G>A | CA4751832 | RP1 | c.4268G>A (p.Cys1423Tyr) c.787+5862G>A (n.787+5862G>A) c.4289G>A (p.Cys1430Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54628150G>C | CA370981827 | RP1 | c.4268G>C (p.Cys1423Ser) c.787+5862G>C (n.787+5862G>C) c.4289G>C (p.Cys1430Ser) | |
| 8 | g.54628150G= | CA1785189055 | RP1 | c.4268G= (p.Cys1423=) c.787+5862G= (n.787+5862G=) c.4289G= (p.Cys1430=) | |
| 8 | g.54628150G>T | CA370981828 | RP1 | c.4268G>T (p.Cys1423Phe) c.787+5862G>T (n.787+5862G>T) c.4289G>T (p.Cys1430Phe) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54628151T>A | CA370981829 | RP1 | c.4269T>A (p.Cys1423Ter) c.787+5863T>A (n.787+5863T>A) c.4290T>A (p.Cys1430Ter) | COSMIC |
| 8 | g.54628151T>C | CA4751833 | RP1 | c.4269T>C (p.Cys1423=) c.787+5863T>C (n.787+5863T>C) c.4290T>C (p.Cys1430=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628151T>G | CA370981830 | RP1 | c.4269T>G (p.Cys1423Trp) c.787+5863T>G (n.787+5863T>G) c.4290T>G (p.Cys1430Trp) | |
| 8 | g.54628151T= | CA1785189056 | RP1 | c.4269T= (p.Cys1423=) c.787+5863T= (n.787+5863T=) c.4290T= (p.Cys1430=) | |
| 8 | g.54628152T>A | CA370981831 | RP1 | c.4270T>A (p.Ser1424Thr) c.787+5864T>A (n.787+5864T>A) c.4291T>A (p.Ser1431Thr) | |
| 8 | g.54628152T>C | CA370981833 | RP1 | c.4270T>C (p.Ser1424Pro) c.787+5864T>C (n.787+5864T>C) c.4291T>C (p.Ser1431Pro) | |
| 8 | g.54628152T>G | CA370981832 | RP1 | c.4270T>G (p.Ser1424Ala) c.787+5864T>G (n.787+5864T>G) c.4291T>G (p.Ser1431Ala) | |
| 8 | g.54628153C>A | CA370981834 | RP1 | c.4271C>A (p.Ser1424Ter) c.787+5865C>A (n.787+5865C>A) c.4292C>A (p.Ser1431Ter) | |
| 8 | g.54628153C= | CA1785189057 | RP1 | c.4271C= (p.Ser1424=) c.787+5865C= (n.787+5865C=) c.4292C= (p.Ser1431=) | |
| 8 | g.54628153C>G | CA370981835 | RP1 | c.4271C>G (p.Ser1424Ter) c.787+5865C>G (n.787+5865C>G) c.4292C>G (p.Ser1431Ter) | dbSNP |
| 8 | g.54628153C>T | CA4751834 | RP1 | c.4271C>T (p.Ser1424Leu) c.787+5865C>T (n.787+5865C>T) c.4292C>T (p.Ser1431Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54628154A>C | CA461099982 | RP1 | c.4272A>C (p.Ser1424=) c.787+5866A>C (n.787+5866A>C) c.4293A>C (p.Ser1431=) | |
| 8 | g.54628154A>G | CA461099984 | RP1 | c.4272A>G (p.Ser1424=) c.787+5866A>G (n.787+5866A>G) c.4293A>G (p.Ser1431=) | |
| 8 | g.54628154A>T | CA461099985 | RP1 | c.4272A>T (p.Ser1424=) c.787+5866A>T (n.787+5866A>T) c.4293A>T (p.Ser1431=) | |
| 8 | g.54628155C>A | CA370981836 | RP1 | c.4273C>A (p.Leu1425Ile) c.787+5867C>A (n.787+5867C>A) c.4294C>A (p.Leu1432Ile) | |
| 8 | g.54628155C= | CA1785189058 | RP1 | c.4273C= (p.Leu1425=) c.787+5867C= (n.787+5867C=) c.4294C= (p.Leu1432=) | |
| 8 | g.54628155C>G | CA370981837 | RP1 | c.4273C>G (p.Leu1425Val) c.787+5867C>G (n.787+5867C>G) c.4294C>G (p.Leu1432Val) | |
| 8 | g.54628155C>T | CA461099986 | RP1 | c.4273C>T (p.Leu1425=) c.787+5867C>T (n.787+5867C>T) c.4294C>T (p.Leu1432=) | dbSNP |
| 8 | g.54628156T>A | CA370981839 | RP1 | c.4274T>A (p.Leu1425Gln) c.787+5868T>A (n.787+5868T>A) c.4295T>A (p.Leu1432Gln) | |
| 8 | g.54628156T>C | CA370981840 | RP1 | c.4274T>C (p.Leu1425Pro) c.787+5868T>C (n.787+5868T>C) c.4295T>C (p.Leu1432Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628156T>G | CA370981838 | RP1 | c.4274T>G (p.Leu1425Arg) c.787+5868T>G (n.787+5868T>G) c.4295T>G (p.Leu1432Arg) | |
| 8 | g.54628156T= | CA1785189059 | RP1 | c.4274T= (p.Leu1425=) c.787+5868T= (n.787+5868T=) c.4295T= (p.Leu1432=) | |
| 8 | g.54628157A= | CA1785189060 | RP1 | c.4275A= (p.Leu1425=) c.787+5869A= (n.787+5869A=) c.4296A= (p.Leu1432=) | |
| 8 | g.54628157A>C | CA461100036 | RP1 | c.4275A>C (p.Leu1425=) c.787+5869A>C (n.787+5869A>C) c.4296A>C (p.Leu1432=) | |
| 8 | g.54628157A>G | CA4751835 | RP1 | c.4275A>G (p.Leu1425=) c.787+5869A>G (n.787+5869A>G) c.4296A>G (p.Leu1432=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628157A>T | CA461100037 | RP1 | c.4275A>T (p.Leu1425=) c.787+5869A>T (n.787+5869A>T) c.4296A>T (p.Leu1432=) | |
| 8 | g.54628158A>C | CA461100038 | RP1 | c.4276A>C (p.Arg1426=) c.787+5870A>C (n.787+5870A>C) c.4297A>C (p.Arg1433=) | gnomAD v4 |
| 8 | g.54628158A>G | CA370981842 | RP1 | c.4276A>G (p.Arg1426Gly) c.787+5870A>G (n.787+5870A>G) c.4297A>G (p.Arg1433Gly) | gnomAD v4 |
| 8 | g.54628158A>T | CA370981841 | RP1 | c.4276A>T (p.Arg1426Trp) c.787+5870A>T (n.787+5870A>T) c.4297A>T (p.Arg1433Trp) | |
| 8 | g.54628159G>A | CA370981843 | RP1 | c.4277G>A (p.Arg1426Lys) c.787+5871G>A (n.787+5871G>A) c.4298G>A (p.Arg1433Lys) | |
| 8 | g.54628159G>C | CA370981844 | RP1 | c.4277G>C (p.Arg1426Thr) c.787+5871G>C (n.787+5871G>C) c.4298G>C (p.Arg1433Thr) | |
| 8 | g.54628159G>T | CA370981845 | RP1 | c.4277G>T (p.Arg1426Met) c.787+5871G>T (n.787+5871G>T) c.4298G>T (p.Arg1433Met) | |
| 8 | g.54628160G>A | CA461100039 | RP1 | c.4278G>A (p.Arg1426=) c.787+5872G>A (n.787+5872G>A) c.4299G>A (p.Arg1433=) | COSMIC |
| 8 | g.54628160G>C | CA370981846 | RP1 | c.4278G>C (p.Arg1426Ser) c.787+5872G>C (n.787+5872G>C) c.4299G>C (p.Arg1433Ser) | |
| 8 | g.54628160G>T | CA370981847 | RP1 | c.4278G>T (p.Arg1426Ser) c.787+5872G>T (n.787+5872G>T) c.4299G>T (p.Arg1433Ser) | gnomAD v4 |
| 8 | g.54628160_54628161insT | CA645560583 | RP1 | c.4278_4279insT (p.Lys1427Ter) c.787+5872_787+5873insT (n.787+5872_787+5873insT) c.4299_4300insT (p.Lys1434Ter) | COSMIC |
| 8 | g.54628161A= | CA1785189061 | RP1 | c.4279A= (p.Lys1427=) c.787+5873A= (n.787+5873A=) c.4300A= (p.Lys1434=) | |
| 8 | g.54628161A>C | CA370981848 | RP1 | c.4279A>C (p.Lys1427Gln) c.787+5873A>C (n.787+5873A>C) c.4300A>C (p.Lys1434Gln) | |
| 8 | g.54628161A>G | CA370981849 | RP1 | c.4279A>G (p.Lys1427Glu) c.787+5873A>G (n.787+5873A>G) c.4300A>G (p.Lys1434Glu) | ClinVar dbSNP |
| 8 | g.54628161A>T | CA370981850 | RP1 | c.4279A>T (p.Lys1427Ter) c.787+5873A>T (n.787+5873A>T) c.4300A>T (p.Lys1434Ter) | |
| 8 | g.54628162A= | CA1785189062 | RP1 | c.4280A= (p.Lys1427=) c.787+5874A= (n.787+5874A=) c.4301A= (p.Lys1434=) | |
| 8 | g.54628162A>C | CA370981851 | RP1 | c.4280A>C (p.Lys1427Thr) c.787+5874A>C (n.787+5874A>C) c.4301A>C (p.Lys1434Thr) | |
| 8 | g.54628162A>G | CA4751836 | RP1 | c.4280A>G (p.Lys1427Arg) c.787+5874A>G (n.787+5874A>G) c.4301A>G (p.Lys1434Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628162A>T | CA370981852 | RP1 | c.4280A>T (p.Lys1427Met) c.787+5874A>T (n.787+5874A>T) c.4301A>T (p.Lys1434Met) | dbSNP |
| 8 | g.54628163G>A | CA4751837 | RP1 | c.4281G>A (p.Lys1427=) c.787+5875G>A (n.787+5875G>A) c.4302G>A (p.Lys1434=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628163G>C | CA370981853 | RP1 | c.4281G>C (p.Lys1427Asn) c.787+5875G>C (n.787+5875G>C) c.4302G>C (p.Lys1434Asn) | |
| 8 | g.54628163G= | CA1785189063 | RP1 | c.4281G= (p.Lys1427=) c.787+5875G= (n.787+5875G=) c.4302G= (p.Lys1434=) | |
| 8 | g.54628163G>T | CA370981854 | RP1 | c.4281G>T (p.Lys1427Asn) c.787+5875G>T (n.787+5875G>T) c.4302G>T (p.Lys1434Asn) | |
| 8 | g.54628164T>A | CA370981855 | RP1 | c.4282T>A (p.Phe1428Ile) c.787+5876T>A (n.787+5876T>A) c.4303T>A (p.Phe1435Ile) | |
| 8 | g.54628164T>C | CA370981856 | RP1 | c.4282T>C (p.Phe1428Leu) c.787+5876T>C (n.787+5876T>C) c.4303T>C (p.Phe1435Leu) | |
| 8 | g.54628164T>G | CA370981857 | RP1 | c.4282T>G (p.Phe1428Val) c.787+5876T>G (n.787+5876T>G) c.4303T>G (p.Phe1435Val) | |
| 8 | g.54628165T>A | CA370981858 | RP1 | c.4283T>A (p.Phe1428Tyr) c.787+5877T>A (n.787+5877T>A) c.4304T>A (p.Phe1435Tyr) | |
| 8 | g.54628165T>C | CA370981859 | RP1 | c.4283T>C (p.Phe1428Ser) c.787+5877T>C (n.787+5877T>C) c.4304T>C (p.Phe1435Ser) | |
| 8 | g.54628165T>G | CA370981860 | RP1 | c.4283T>G (p.Phe1428Cys) c.787+5877T>G (n.787+5877T>G) c.4304T>G (p.Phe1435Cys) | |
| 8 | g.54628166T>A | CA370981861 | RP1 | c.4284T>A (p.Phe1428Leu) c.787+5878T>A (n.787+5878T>A) c.4305T>A (p.Phe1435Leu) | |
| 8 | g.54628166T>C | CA461100048 | RP1 | c.4284T>C (p.Phe1428=) c.787+5878T>C (n.787+5878T>C) c.4305T>C (p.Phe1435=) | |
| 8 | g.54628166T>G | CA370981862 | RP1 | c.4284T>G (p.Phe1428Leu) c.787+5878T>G (n.787+5878T>G) c.4305T>G (p.Phe1435Leu) | |
| 8 | g.54628167C>A | CA370981863 | RP1 | c.4285C>A (p.Gln1429Lys) c.787+5879C>A (n.787+5879C>A) c.4306C>A (p.Gln1436Lys) | |
| 8 | g.54628167C>G | CA370981864 | RP1 | c.4285C>G (p.Gln1429Glu) c.787+5879C>G (n.787+5879C>G) c.4306C>G (p.Gln1436Glu) | |
| 8 | g.54628167C>T | CA370981865 | RP1 | c.4285C>T (p.Gln1429Ter) c.787+5879C>T (n.787+5879C>T) c.4306C>T (p.Gln1436Ter) | COSMIC |
| 8 | g.54628168A= | CA1785189064 | RP1 | c.4286A= (p.Gln1429=) c.787+5880A= (n.787+5880A=) c.4307A= (p.Gln1436=) | |
| 8 | g.54628168A>C | CA370981867 | RP1 | c.4286A>C (p.Gln1429Pro) c.787+5880A>C (n.787+5880A>C) c.4307A>C (p.Gln1436Pro) | gnomAD v4 |
| 8 | g.54628168A>G | CA177181644 | RP1 | c.4286A>G (p.Gln1429Arg) c.787+5880A>G (n.787+5880A>G) c.4307A>G (p.Gln1436Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54628168A>T | CA370981866 | RP1 | c.4286A>T (p.Gln1429Leu) c.787+5880A>T (n.787+5880A>T) c.4307A>T (p.Gln1436Leu) | |
| 8 | g.54628169G>A | CA461100050 | RP1 | c.4287G>A (p.Gln1429=) c.787+5881G>A (n.787+5881G>A) c.4308G>A (p.Gln1436=) | |
| 8 | g.54628169G>C | CA370981868 | RP1 | c.4287G>C (p.Gln1429His) c.787+5881G>C (n.787+5881G>C) c.4308G>C (p.Gln1436His) | |
| 8 | g.54628169G>T | CA370981869 | RP1 | c.4287G>T (p.Gln1429His) c.787+5881G>T (n.787+5881G>T) c.4308G>T (p.Gln1436His) | |
| 8 | g.54628170G>A | CA370981870 | RP1 | c.4288G>A (p.Asp1430Asn) c.787+5882G>A (n.787+5882G>A) c.4309G>A (p.Asp1437Asn) | COSMIC |
| 8 | g.54628170G>C | CA370981871 | RP1 | c.4288G>C (p.Asp1430His) c.787+5882G>C (n.787+5882G>C) c.4309G>C (p.Asp1437His) | |
| 8 | g.54628170G>T | CA370981872 | RP1 | c.4288G>T (p.Asp1430Tyr) c.787+5882G>T (n.787+5882G>T) c.4309G>T (p.Asp1437Tyr) | gnomAD v4 |
| 8 | g.54628171A>C | CA370981873 | RP1 | c.4289A>C (p.Asp1430Ala) c.787+5883A>C (n.787+5883A>C) c.4310A>C (p.Asp1437Ala) | |
| 8 | g.54628171A>G | CA370981874 | RP1 | c.4289A>G (p.Asp1430Gly) c.787+5883A>G (n.787+5883A>G) c.4310A>G (p.Asp1437Gly) | |
| 8 | g.54628171A>T | CA370981875 | RP1 | c.4289A>T (p.Asp1430Val) c.787+5883A>T (n.787+5883A>T) c.4310A>T (p.Asp1437Val) | |
| 8 | g.54628172T>A | CA370981876 | RP1 | c.4290T>A (p.Asp1430Glu) c.787+5884T>A (n.787+5884T>A) c.4311T>A (p.Asp1437Glu) | |
| 8 | g.54628172T>C | CA461100055 | RP1 | c.4290T>C (p.Asp1430=) c.787+5884T>C (n.787+5884T>C) c.4311T>C (p.Asp1437=) | |
| 8 | g.54628172T>G | CA370981877 | RP1 | c.4290T>G (p.Asp1430Glu) c.787+5884T>G (n.787+5884T>G) c.4311T>G (p.Asp1437Glu) | |
| 8 | g.54628173G>A | CA370981878 | RP1 | c.4291G>A (p.Glu1431Lys) c.787+5885G>A (n.787+5885G>A) c.4312G>A (p.Glu1438Lys) | COSMIC |
| 8 | g.54628173G>C | CA370981879 | RP1 | c.4291G>C (p.Glu1431Gln) c.787+5885G>C (n.787+5885G>C) c.4312G>C (p.Glu1438Gln) | |
| 8 | g.54628173G>T | CA370981880 | RP1 | c.4291G>T (p.Glu1431Ter) c.787+5885G>T (n.787+5885G>T) c.4312G>T (p.Glu1438Ter) | |
| 8 | g.54628174A>C | CA370981883 | RP1 | c.4292A>C (p.Glu1431Ala) c.787+5886A>C (n.787+5886A>C) c.4313A>C (p.Glu1438Ala) | |
| 8 | g.54628174A>G | CA370981882 | RP1 | c.4292A>G (p.Glu1431Gly) c.787+5886A>G (n.787+5886A>G) c.4313A>G (p.Glu1438Gly) | |
| 8 | g.54628174A>T | CA370981881 | RP1 | c.4292A>T (p.Glu1431Val) c.787+5886A>T (n.787+5886A>T) c.4313A>T (p.Glu1438Val) | |
| 8 | g.54628177dup | CA2579168463 | RP1 | c.4295dup (p.Asn1432LysfsTer7) c.787+5889dup (n.787+5889dup) c.4316dup (p.Asn1439LysfsTer7) | |
| 8 | g.54628175A>C | CA370981884 | RP1 | c.4293A>C (p.Glu1431Asp) c.787+5887A>C (n.787+5887A>C) c.4314A>C (p.Glu1438Asp) | |
| 8 | g.54628175A>G | CA461100060 | RP1 | c.4293A>G (p.Glu1431=) c.787+5887A>G (n.787+5887A>G) c.4314A>G (p.Glu1438=) | |
| 8 | g.54628175A>T | CA370981885 | RP1 | c.4293A>T (p.Glu1431Asp) c.787+5887A>T (n.787+5887A>T) c.4314A>T (p.Glu1438Asp) | |
| 8 | g.54628176A= | CA1785189065 | RP1 | c.4294A= (p.Asn1432=) c.787+5888A= (n.787+5888A=) c.4315A= (p.Asn1439=) | |
| 8 | g.54628176A>C | CA370981886 | RP1 | c.4294A>C (p.Asn1432His) c.787+5888A>C (n.787+5888A>C) c.4315A>C (p.Asn1439His) | |
| 8 | g.54628176A>G | CA4751838 | RP1 | c.4294A>G (p.Asn1432Asp) c.787+5888A>G (n.787+5888A>G) c.4315A>G (p.Asn1439Asp) | dbSNP ExAC |
| 8 | g.54628176A>T | CA370981887 | RP1 | c.4294A>T (p.Asn1432Tyr) c.787+5888A>T (n.787+5888A>T) c.4315A>T (p.Asn1439Tyr) | |
| 8 | g.54628177A= | CA1785189066 | RP1 | c.4295A= (p.Asn1432=) c.787+5889A= (n.787+5889A=) c.4316A= (p.Asn1439=) | |
| 8 | g.54628177A>C | CA370981888 | RP1 | c.4295A>C (p.Asn1432Thr) c.787+5889A>C (n.787+5889A>C) c.4316A>C (p.Asn1439Thr) | |
| 8 | g.54628177A>G | CA4751839 | RP1 | c.4295A>G (p.Asn1432Ser) c.787+5889A>G (n.787+5889A>G) c.4316A>G (p.Asn1439Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628177A>T | CA370981889 | RP1 | c.4295A>T (p.Asn1432Ile) c.787+5889A>T (n.787+5889A>T) c.4316A>T (p.Asn1439Ile) | |
| 8 | g.54628178T>A | CA4751840 | RP1 | c.4296T>A (p.Asn1432Lys) c.787+5890T>A (n.787+5890T>A) c.4317T>A (p.Asn1439Lys) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 8 | g.54628178T>C | CA461100068 | RP1 | c.4296T>C (p.Asn1432=) c.787+5890T>C (n.787+5890T>C) c.4317T>C (p.Asn1439=) | |
| 8 | g.54628178T>G | CA370981890 | RP1 | c.4296T>G (p.Asn1432Lys) c.787+5890T>G (n.787+5890T>G) c.4317T>G (p.Asn1439Lys) | |
| 8 | g.54628178T= | CA1785189067 | RP1 | c.4296T= (p.Asn1432=) c.787+5890T= (n.787+5890T=) c.4317T= (p.Asn1439=) | |
| 8 | g.54628179G>A | CA370981891 | RP1 | c.4297G>A (p.Ala1433Thr) c.787+5891G>A (n.787+5891G>A) c.4318G>A (p.Ala1440Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.54628179G>C | CA370981892 | RP1 | c.4297G>C (p.Ala1433Pro) c.787+5891G>C (n.787+5891G>C) c.4318G>C (p.Ala1440Pro) | |
| 8 | g.54628179G= | CA1785189068 | RP1 | c.4297G= (p.Ala1433=) c.787+5891G= (n.787+5891G=) c.4318G= (p.Ala1440=) | |
| 8 | g.54628179G>T | CA370981893 | RP1 | c.4297G>T (p.Ala1433Ser) c.787+5891G>T (n.787+5891G>T) c.4318G>T (p.Ala1440Ser) | gnomAD v4 |
| 8 | g.54628180C>A | CA370981894 | RP1 | c.4298C>A (p.Ala1433Glu) c.787+5892C>A (n.787+5892C>A) c.4319C>A (p.Ala1440Glu) | |
| 8 | g.54628180C= | CA1785189069 | RP1 | c.4298C= (p.Ala1433=) c.787+5892C= (n.787+5892C=) c.4319C= (p.Ala1440=) | |
| 8 | g.54628180C>G | CA370981896 | RP1 | c.4298C>G (p.Ala1433Gly) c.787+5892C>G (n.787+5892C>G) c.4319C>G (p.Ala1440Gly) | |
| 8 | g.54628180C>T | CA370981895 | RP1 | c.4298C>T (p.Ala1433Val) c.787+5892C>T (n.787+5892C>T) c.4319C>T (p.Ala1440Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628181A= | CA1785189070 | RP1 | c.4299A= (p.Ala1433=) c.787+5893A= (n.787+5893A=) c.4320A= (p.Ala1440=) | |
| 8 | g.54628181A>C | CA461100074 | RP1 | c.4299A>C (p.Ala1433=) c.787+5893A>C (n.787+5893A>C) c.4320A>C (p.Ala1440=) | |
| 8 | g.54628181A>G | CA245310 | RP1 | c.4299A>G (p.Ala1433=) c.787+5893A>G (n.787+5893A>G) c.4320A>G (p.Ala1440=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628181A>T | CA461100072 | RP1 | c.4299A>T (p.Ala1433=) c.787+5893A>T (n.787+5893A>T) c.4320A>T (p.Ala1440=) | |
| 8 | g.54628182T>A | CA370981898 | RP1 | c.4300T>A (p.Tyr1434Asn) c.787+5894T>A (n.787+5894T>A) c.4321T>A (p.Tyr1441Asn) | |
| 8 | g.54628182T>C | CA370981897 | RP1 | c.4300T>C (p.Tyr1434His) c.787+5894T>C (n.787+5894T>C) c.4321T>C (p.Tyr1441His) | gnomAD v4 |
| 8 | g.54628182T>G | CA370981899 | RP1 | c.4300T>G (p.Tyr1434Asp) c.787+5894T>G (n.787+5894T>G) c.4321T>G (p.Tyr1441Asp) | |
| 8 | g.54628183A>C | CA370981900 | RP1 | c.4301A>C (p.Tyr1434Ser) c.787+5895A>C (n.787+5895A>C) c.4322A>C (p.Tyr1441Ser) | |
| 8 | g.54628183A>G | CA370981901 | RP1 | c.4301A>G (p.Tyr1434Cys) c.787+5895A>G (n.787+5895A>G) c.4322A>G (p.Tyr1441Cys) | gnomAD v4 |
| 8 | g.54628183A>T | CA370981902 | RP1 | c.4301A>T (p.Tyr1434Phe) c.787+5895A>T (n.787+5895A>T) c.4322A>T (p.Tyr1441Phe) | |
| 8 | g.54628184T>A | CA370981903 | RP1 | c.4302T>A (p.Tyr1434Ter) c.787+5896T>A (n.787+5896T>A) c.4323T>A (p.Tyr1441Ter) | |
| 8 | g.54628184T>C | CA461100079 | RP1 | c.4302T>C (p.Tyr1434=) c.787+5896T>C (n.787+5896T>C) c.4323T>C (p.Tyr1441=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54628184T>G | CA370981904 | RP1 | c.4302T>G (p.Tyr1434Ter) c.787+5896T>G (n.787+5896T>G) c.4323T>G (p.Tyr1441Ter) | |
| 8 | g.54628184T= | CA1785189071 | RP1 | c.4302T= (p.Tyr1434=) c.787+5896T= (n.787+5896T=) c.4323T= (p.Tyr1441=) | |
| 8 | g.54628185A= | CA1785189072 | RP1 | c.4303A= (p.Thr1435=) c.787+5897A= (n.787+5897A=) c.4324A= (p.Thr1442=) | |
| 8 | g.54628185A>C | CA370981905 | RP1 | c.4303A>C (p.Thr1435Pro) c.787+5897A>C (n.787+5897A>C) c.4324A>C (p.Thr1442Pro) | |
| 8 | g.54628185A>G | CA177181668 | RP1 | c.4303A>G (p.Thr1435Ala) c.787+5897A>G (n.787+5897A>G) c.4324A>G (p.Thr1442Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54628185A>T | CA370981906 | RP1 | c.4303A>T (p.Thr1435Ser) c.787+5897A>T (n.787+5897A>T) c.4324A>T (p.Thr1442Ser) | |
| 8 | g.54628185_54628189delinsACTTC | CA1785189073 | RP1 | c.4303_4307delinsACTTC (p.Thr1435=) c.787+5897_787+5901delinsACTTC (n.787+5897_787+5901delinsACTTC) c.4324_4328delinsACTTC (p.Thr1442=) | |
| 8 | g.54628186C>A | CA370981907 | RP1 | c.4304C>A (p.Thr1435Asn) c.787+5898C>A (n.787+5898C>A) c.4325C>A (p.Thr1442Asn) | |
| 8 | g.54628186C= | CA1785189075 | RP1 | c.4304C= (p.Thr1435=) c.787+5898C= (n.787+5898C=) c.4325C= (p.Thr1442=) | |
| 8 | g.54628186C>G | CA370981908 | RP1 | c.4304C>G (p.Thr1435Ser) c.787+5898C>G (n.787+5898C>G) c.4325C>G (p.Thr1442Ser) | |
| 8 | g.54628186C>T | CA370981909 | RP1 | c.4304C>T (p.Thr1435Ile) c.787+5898C>T (n.787+5898C>T) c.4325C>T (p.Thr1442Ile) | dbSNP gnomAD v4 |
| 8 | g.54628189_54628192del | CA1785189074 | RP1 | c.4307_4310del (p.Ser1436LeufsTer15) c.787+5901_787+5904del (n.787+5901_787+5904del) c.4328_4331del (p.Ser1443LeufsTer15) | dbSNP |
| 8 | g.54628187T>A | CA461100086 | RP1 | c.4305T>A (p.Thr1435=) c.787+5899T>A (n.787+5899T>A) c.4326T>A (p.Thr1442=) | |
| 8 | g.54628187T>C | CA461100089 | RP1 | c.4305T>C (p.Thr1435=) c.787+5899T>C (n.787+5899T>C) c.4326T>C (p.Thr1442=) | |
| 8 | g.54628187T>G | CA461100088 | RP1 | c.4305T>G (p.Thr1435=) c.787+5899T>G (n.787+5899T>G) c.4326T>G (p.Thr1442=) | gnomAD v4 |
| 8 | g.54628188del | CA2695209308 | RP1 | c.4306del (p.Ser1436ProfsTer16) c.787+5900del (n.787+5900del) c.4327del (p.Ser1443ProfsTer16) | |
| 8 | g.54628188T>A | CA370981912 | RP1 | c.4306T>A (p.Ser1436Thr) c.787+5900T>A (n.787+5900T>A) c.4327T>A (p.Ser1443Thr) | |
| 8 | g.54628188T>C | CA370981911 | RP1 | c.4306T>C (p.Ser1436Pro) c.787+5900T>C (n.787+5900T>C) c.4327T>C (p.Ser1443Pro) | |
| 8 | g.54628188T>G | CA370981910 | RP1 | c.4306T>G (p.Ser1436Ala) c.787+5900T>G (n.787+5900T>G) c.4327T>G (p.Ser1443Ala) | |
| 8 | g.54628189C>A | CA370981913 | RP1 | c.4307C>A (p.Ser1436Tyr) c.787+5901C>A (n.787+5901C>A) c.4328C>A (p.Ser1443Tyr) | |
| 8 | g.54628189C= | CA1785189076 | RP1 | c.4307C= (p.Ser1436=) c.787+5901C= (n.787+5901C=) c.4328C= (p.Ser1443=) | |
| 8 | g.54628189C>G | CA370981914 | RP1 | c.4307C>G (p.Ser1436Cys) c.787+5901C>G (n.787+5901C>G) c.4328C>G (p.Ser1443Cys) | |
| 8 | g.54628189C>T | CA4751841 | RP1 | c.4307C>T (p.Ser1436Phe) c.787+5901C>T (n.787+5901C>T) c.4328C>T (p.Ser1443Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54628189_54628190delinsTT | CA645560584 | RP1 | c.4307_4308delinsTT (p.Ser1436Phe) c.787+5901_787+5902delinsTT (n.787+5901_787+5902delinsTT) c.4328_4329delinsTT (p.Ser1443Phe) | COSMIC |
| 8 | g.54628190C>A | CA461100095 | RP1 | c.4308C>A (p.Ser1436=) c.787+5902C>A (n.787+5902C>A) c.4329C>A (p.Ser1443=) | |
| 8 | g.54628190C= | CA1785189077 | RP1 | c.4308C= (p.Ser1436=) c.787+5902C= (n.787+5902C=) c.4329C= (p.Ser1443=) | |
| 8 | g.54628190C>G | CA461100096 | RP1 | c.4308C>G (p.Ser1436=) c.787+5902C>G (n.787+5902C>G) c.4329C>G (p.Ser1443=) | |
| 8 | g.54628190C>T | CA4751842 | RP1 | c.4308C>T (p.Ser1436=) c.787+5902C>T (n.787+5902C>T) c.4329C>T (p.Ser1443=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628191T>A | CA370981915 | RP1 | c.4309T>A (p.Phe1437Ile) c.787+5903T>A (n.787+5903T>A) c.4330T>A (p.Phe1444Ile) | |
| 8 | g.54628191T>C | CA370981916 | RP1 | c.4309T>C (p.Phe1437Leu) c.787+5903T>C (n.787+5903T>C) c.4330T>C (p.Phe1444Leu) | gnomAD v4 |
| 8 | g.54628191T>G | CA370981917 | RP1 | c.4309T>G (p.Phe1437Val) c.787+5903T>G (n.787+5903T>G) c.4330T>G (p.Phe1444Val) | |
| 8 | g.54628192T>A | CA370981918 | RP1 | c.4310T>A (p.Phe1437Tyr) c.787+5904T>A (n.787+5904T>A) c.4331T>A (p.Phe1444Tyr) | |
| 8 | g.54628192T>C | CA370981919 | RP1 | c.4310T>C (p.Phe1437Ser) c.787+5904T>C (n.787+5904T>C) c.4331T>C (p.Phe1444Ser) | |
| 8 | g.54628192T>G | CA370981920 | RP1 | c.4310T>G (p.Phe1437Cys) c.787+5904T>G (n.787+5904T>G) c.4331T>G (p.Phe1444Cys) | |
| 8 | g.54628193T>A | CA370981921 | RP1 | c.4311T>A (p.Phe1437Leu) c.787+5905T>A (n.787+5905T>A) c.4332T>A (p.Phe1444Leu) | |
| 8 | g.54628193T>C | CA461100103 | RP1 | c.4311T>C (p.Phe1437=) c.787+5905T>C (n.787+5905T>C) c.4332T>C (p.Phe1444=) | |
| 8 | g.54628193T>G | CA370981922 | RP1 | c.4311T>G (p.Phe1437Leu) c.787+5905T>G (n.787+5905T>G) c.4332T>G (p.Phe1444Leu) | |
| 8 | g.54628194G>A | CA370981924 | RP1 | c.4312G>A (p.Asp1438Asn) c.787+5906G>A (n.787+5906G>A) c.4333G>A (p.Asp1445Asn) | dbSNP gnomAD v4 |
| 8 | g.54628194G>C | CA370981925 | RP1 | c.4312G>C (p.Asp1438His) c.787+5906G>C (n.787+5906G>C) c.4333G>C (p.Asp1445His) | |
| 8 | g.54628194G= | CA1785189078 | RP1 | c.4312G= (p.Asp1438=) c.787+5906G= (n.787+5906G=) c.4333G= (p.Asp1445=) | |
| 8 | g.54628194G>T | CA370981923 | RP1 | c.4312G>T (p.Asp1438Tyr) c.787+5906G>T (n.787+5906G>T) c.4333G>T (p.Asp1445Tyr) | |
| 8 | g.54628195A= | CA1785189079 | RP1 | c.4313A= (p.Asp1438=) c.787+5907A= (n.787+5907A=) c.4334A= (p.Asp1445=) | |
| 8 | g.54628195A>C | CA4751843 | RP1 | c.4313A>C (p.Asp1438Ala) c.787+5907A>C (n.787+5907A>C) c.4334A>C (p.Asp1445Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54628195A>G | CA370981926 | RP1 | c.4313A>G (p.Asp1438Gly) c.787+5907A>G (n.787+5907A>G) c.4334A>G (p.Asp1445Gly) | |
| 8 | g.54628195A>T | CA370981927 | RP1 | c.4313A>T (p.Asp1438Val) c.787+5907A>T (n.787+5907A>T) c.4334A>T (p.Asp1445Val) | |
| 8 | g.54628196T>A | CA370981928 | RP1 | c.4314T>A (p.Asp1438Glu) c.787+5908T>A (n.787+5908T>A) c.4335T>A (p.Asp1445Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54628196T>C | CA461100108 | RP1 | c.4314T>C (p.Asp1438=) c.787+5908T>C (n.787+5908T>C) c.4335T>C (p.Asp1445=) | |
| 8 | g.54628196T>G | CA370981929 | RP1 | c.4314T>G (p.Asp1438Glu) c.787+5908T>G (n.787+5908T>G) c.4335T>G (p.Asp1445Glu) | |
| 8 | g.54628196T= | CA1785189080 | RP1 | c.4314T= (p.Asp1438=) c.787+5908T= (n.787+5908T=) c.4335T= (p.Asp1445=) | |
| 8 | g.54628197A= | CA1785189081 | RP1 | c.4315A= (p.Met1439=) c.787+5909A= (n.787+5909A=) c.4336A= (p.Met1446=) | |
| 8 | g.54628197A>C | CA370981932 | RP1 | c.4315A>C (p.Met1439Leu) c.787+5909A>C (n.787+5909A>C) c.4336A>C (p.Met1446Leu) | |
| 8 | g.54628197A>G | CA370981931 | RP1 | c.4315A>G (p.Met1439Val) c.787+5909A>G (n.787+5909A>G) c.4336A>G (p.Met1446Val) | dbSNP gnomAD v4 |
| 8 | g.54628197A>T | CA370981930 | RP1 | c.4315A>T (p.Met1439Leu) c.787+5909A>T (n.787+5909A>T) c.4336A>T (p.Met1446Leu) | |
| 8 | g.54628198T>A | CA370981933 | RP1 | c.4316T>A (p.Met1439Lys) c.787+5910T>A (n.787+5910T>A) c.4337T>A (p.Met1446Lys) | |
| 8 | g.54628198T>C | CA370981934 | RP1 | c.4316T>C (p.Met1439Thr) c.787+5910T>C (n.787+5910T>C) c.4337T>C (p.Met1446Thr) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54628198T>G | CA370981935 | RP1 | c.4316T>G (p.Met1439Arg) c.787+5910T>G (n.787+5910T>G) c.4337T>G (p.Met1446Arg) | |
| 8 | g.54628198T= | CA1785189082 | RP1 | c.4316T= (p.Met1439=) c.787+5910T= (n.787+5910T=) c.4337T= (p.Met1446=) | |
| 8 | g.54628199G>A | CA370981936 | RP1 | c.4317G>A (p.Met1439Ile) c.787+5911G>A (n.787+5911G>A) c.4338G>A (p.Met1446Ile) | dbSNP gnomAD v4 |
| 8 | g.54628199G>C | CA370981937 | RP1 | c.4317G>C (p.Met1439Ile) c.787+5911G>C (n.787+5911G>C) c.4338G>C (p.Met1446Ile) | |
| 8 | g.54628199G= | CA1785189083 | RP1 | c.4317G= (p.Met1439=) c.787+5911G= (n.787+5911G=) c.4338G= (p.Met1446=) | |
| 8 | g.54628199G>T | CA370981938 | RP1 | c.4317G>T (p.Met1439Ile) c.787+5911G>T (n.787+5911G>T) c.4338G>T (p.Met1446Ile) | |
| 8 | g.54628200G>A | CA370981939 | RP1 | c.4318G>A (p.Glu1440Lys) c.787+5912G>A (n.787+5912G>A) c.4339G>A (p.Glu1447Lys) | gnomAD v4 COSMIC |
| 8 | g.54628200G>C | CA370981941 | RP1 | c.4318G>C (p.Glu1440Gln) c.787+5912G>C (n.787+5912G>C) c.4339G>C (p.Glu1447Gln) | |
| 8 | g.54628200G>T | CA370981940 | RP1 | c.4318G>T (p.Glu1440Ter) c.787+5912G>T (n.787+5912G>T) c.4339G>T (p.Glu1447Ter) | |
| 8 | g.54628201A>C | CA370981942 | RP1 | c.4319A>C (p.Glu1440Ala) c.787+5913A>C (n.787+5913A>C) c.4340A>C (p.Glu1447Ala) | |
| 8 | g.54628201A>G | CA370981943 | RP1 | c.4319A>G (p.Glu1440Gly) c.787+5913A>G (n.787+5913A>G) c.4340A>G (p.Glu1447Gly) | |
| 8 | g.54628201A>T | CA370981944 | RP1 | c.4319A>T (p.Glu1440Val) c.787+5913A>T (n.787+5913A>T) c.4340A>T (p.Glu1447Val) | |
| 8 | g.54628202A>C | CA370981945 | RP1 | c.4320A>C (p.Glu1440Asp) c.787+5914A>C (n.787+5914A>C) c.4341A>C (p.Glu1447Asp) | |
| 8 | g.54628202A>G | CA461100121 | RP1 | c.4320A>G (p.Glu1440=) c.787+5914A>G (n.787+5914A>G) c.4341A>G (p.Glu1447=) | |
| 8 | g.54628202A>T | CA370981946 | RP1 | c.4320A>T (p.Glu1440Asp) c.787+5914A>T (n.787+5914A>T) c.4341A>T (p.Glu1447Asp) | |
| 8 | g.54628203G>A | CA370981947 | RP1 | c.4321G>A (p.Glu1441Lys) c.787+5915G>A (n.787+5915G>A) c.4342G>A (p.Glu1448Lys) | |
| 8 | g.54628203G>C | CA370981948 | RP1 | c.4321G>C (p.Glu1441Gln) c.787+5915G>C (n.787+5915G>C) c.4342G>C (p.Glu1448Gln) | |
| 8 | g.54628203G>T | CA370981949 | RP1 | c.4321G>T (p.Glu1441Ter) c.787+5915G>T (n.787+5915G>T) c.4342G>T (p.Glu1448Ter) | gnomAD v4 |
| 8 | g.54628204A>C | CA370981950 | RP1 | c.4322A>C (p.Glu1441Ala) c.787+5916A>C (n.787+5916A>C) c.4343A>C (p.Glu1448Ala) | |
| 8 | g.54628204A>G | CA370981951 | RP1 | c.4322A>G (p.Glu1441Gly) c.787+5916A>G (n.787+5916A>G) c.4343A>G (p.Glu1448Gly) | |
| 8 | g.54628204A>T | CA370981952 | RP1 | c.4322A>T (p.Glu1441Val) c.787+5916A>T (n.787+5916A>T) c.4343A>T (p.Glu1448Val) | |
| 8 | g.54628205A= | CA1785189084 | RP1 | c.4323A= (p.Glu1441=) c.787+5917A= (n.787+5917A=) c.4344A= (p.Glu1448=) | |
| 8 | g.54628205A>C | CA370981954 | RP1 | c.4323A>C (p.Glu1441Asp) c.787+5917A>C (n.787+5917A>C) c.4344A>C (p.Glu1448Asp) | |
| 8 | g.54628205A>G | CA4751844 | RP1 | c.4323A>G (p.Glu1441=) c.787+5917A>G (n.787+5917A>G) c.4344A>G (p.Glu1448=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54628205A>T | CA370981953 | RP1 | c.4323A>T (p.Glu1441Asp) c.787+5917A>T (n.787+5917A>T) c.4344A>T (p.Glu1448Asp) | |
| 8 | g.54628206C>A | CA370981955 | RP1 | c.4324C>A (p.Pro1442Thr) c.787+5918C>A (n.787+5918C>A) c.4345C>A (p.Pro1449Thr) | |
| 8 | g.54628206C>G | CA370981957 | RP1 | c.4324C>G (p.Pro1442Ala) c.787+5918C>G (n.787+5918C>G) c.4345C>G (p.Pro1449Ala) | |
| 8 | g.54628206C>T | CA370981956 | RP1 | c.4324C>T (p.Pro1442Ser) c.787+5918C>T (n.787+5918C>T) c.4345C>T (p.Pro1449Ser) | |
| 8 | g.54628207C>A | CA370981958 | RP1 | c.4325C>A (p.Pro1442Gln) c.787+5919C>A (n.787+5919C>A) c.4346C>A (p.Pro1449Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54628207C= | CA1785189085 | RP1 | c.4325C= (p.Pro1442=) c.787+5919C= (n.787+5919C=) c.4346C= (p.Pro1449=) | |
| 8 | g.54628207C>G | CA370981959 | RP1 | c.4325C>G (p.Pro1442Arg) c.787+5919C>G (n.787+5919C>G) c.4346C>G (p.Pro1449Arg) | |
| 8 | g.54628207C>T | CA370981960 | RP1 | c.4325C>T (p.Pro1442Leu) c.787+5919C>T (n.787+5919C>T) c.4346C>T (p.Pro1449Leu) | |
| 8 | g.54628208A>C | CA461100140 | RP1 | c.4326A>C (p.Pro1442=) c.787+5920A>C (n.787+5920A>C) c.4347A>C (p.Pro1449=) | gnomAD v4 |
| 8 | g.54628208A>G | CA461100135 | RP1 | c.4326A>G (p.Pro1442=) c.787+5920A>G (n.787+5920A>G) c.4347A>G (p.Pro1449=) | |
| 8 | g.54628208A>T | CA461100137 | RP1 | c.4326A>T (p.Pro1442=) c.787+5920A>T (n.787+5920A>T) c.4347A>T (p.Pro1449=) | |
| 8 | g.54628209C>A | CA461100142 | RP1 | c.4327C>A (p.Arg1443=) c.787+5921C>A (n.787+5921C>A) c.4348C>A (p.Arg1450=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628209C= | CA1785189086 | RP1 | c.4327C= (p.Arg1443=) c.787+5921C= (n.787+5921C=) c.4348C= (p.Arg1450=) | |
| 8 | g.54628209C>G | CA370981961 | RP1 | c.4327C>G (p.Arg1443Gly) c.787+5921C>G (n.787+5921C>G) c.4348C>G (p.Arg1450Gly) | |
| 8 | g.54628209C>T | CA4751845 | RP1 | c.4327C>T (p.Arg1443Trp) c.787+5921C>T (n.787+5921C>T) c.4348C>T (p.Arg1450Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54628210G>A | CA4751846 | RP1 | c.4328G>A (p.Arg1443Gln) c.787+5922G>A (n.787+5922G>A) c.4349G>A (p.Arg1450Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628210G>C | CA370981962 | RP1 | c.4328G>C (p.Arg1443Pro) c.787+5922G>C (n.787+5922G>C) c.4349G>C (p.Arg1450Pro) | |
| 8 | g.54628210G= | CA1785189087 | RP1 | c.4328G= (p.Arg1443=) c.787+5922G= (n.787+5922G=) c.4349G= (p.Arg1450=) | |
| 8 | g.54628210G>T | CA370981963 | RP1 | c.4328G>T (p.Arg1443Leu) c.787+5922G>T (n.787+5922G>T) c.4349G>T (p.Arg1450Leu) | gnomAD v4 |
| 8 | g.54628211G>A | CA177181718 | RP1 | c.4329G>A (p.Arg1443=) c.787+5923G>A (n.787+5923G>A) c.4350G>A (p.Arg1450=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54628211G>C | CA461100148 | RP1 | c.4329G>C (p.Arg1443=) c.787+5923G>C (n.787+5923G>C) c.4350G>C (p.Arg1450=) | |
| 8 | g.54628211G= | CA1785189088 | RP1 | c.4329G= (p.Arg1443=) c.787+5923G= (n.787+5923G=) c.4350G= (p.Arg1450=) | |
| 8 | g.54628211G>T | CA461100151 | RP1 | c.4329G>T (p.Arg1443=) c.787+5923G>T (n.787+5923G>T) c.4350G>T (p.Arg1450=) | |
| 8 | g.54628212A>C | CA370981964 | RP1 | c.4330A>C (p.Thr1444Pro) c.787+5924A>C (n.787+5924A>C) c.4351A>C (p.Thr1451Pro) | |
| 8 | g.54628212A>G | CA370981965 | RP1 | c.4330A>G (p.Thr1444Ala) c.787+5924A>G (n.787+5924A>G) c.4351A>G (p.Thr1451Ala) | |
| 8 | g.54628212A>T | CA370981966 | RP1 | c.4330A>T (p.Thr1444Ser) c.787+5924A>T (n.787+5924A>T) c.4351A>T (p.Thr1451Ser) | |
| 8 | g.54628213C>A | CA370981967 | RP1 | c.4331C>A (p.Thr1444Asn) c.787+5925C>A (n.787+5925C>A) c.4352C>A (p.Thr1451Asn) | |
| 8 | g.54628213C= | CA1785189089 | RP1 | c.4331C= (p.Thr1444=) c.787+5925C= (n.787+5925C=) c.4352C= (p.Thr1451=) | |
| 8 | g.54628213C>G | CA370981968 | RP1 | c.4331C>G (p.Thr1444Ser) c.787+5925C>G (n.787+5925C>G) c.4352C>G (p.Thr1451Ser) | gnomAD v4 |
| 8 | g.54628213C>T | CA177181719 | RP1 | c.4331C>T (p.Thr1444Ile) c.787+5925C>T (n.787+5925C>T) c.4352C>T (p.Thr1451Ile) | dbSNP |
| 8 | g.54628214T>A | CA461100161 | RP1 | c.4332T>A (p.Thr1444=) c.787+5926T>A (n.787+5926T>A) c.4353T>A (p.Thr1451=) | |
| 8 | g.54628214T>C | CA461100163 | RP1 | c.4332T>C (p.Thr1444=) c.787+5926T>C (n.787+5926T>C) c.4353T>C (p.Thr1451=) | |
| 8 | g.54628214T>G | CA461100162 | RP1 | c.4332T>G (p.Thr1444=) c.787+5926T>G (n.787+5926T>G) c.4353T>G (p.Thr1451=) | dbSNP |
| 8 | g.54628214T= | CA1785189090 | RP1 | c.4332T= (p.Thr1444=) c.787+5926T= (n.787+5926T=) c.4353T= (p.Thr1451=) | |
| 8 | g.54628215T>A | CA370981969 | RP1 | c.4333T>A (p.Ser1445Thr) c.787+5927T>A (n.787+5927T>A) c.4354T>A (p.Ser1452Thr) | |
| 8 | g.54628215T>C | CA370981970 | RP1 | c.4333T>C (p.Ser1445Pro) c.787+5927T>C (n.787+5927T>C) c.4354T>C (p.Ser1452Pro) | |
| 8 | g.54628215T>G | CA370981971 | RP1 | c.4333T>G (p.Ser1445Ala) c.787+5927T>G (n.787+5927T>G) c.4354T>G (p.Ser1452Ala) | |
| 8 | g.54628216C>A | CA370981972 | RP1 | c.4334C>A (p.Ser1445Tyr) c.787+5928C>A (n.787+5928C>A) c.4355C>A (p.Ser1452Tyr) | |
| 8 | g.54628216C= | CA1785189091 | RP1 | c.4334C= (p.Ser1445=) c.787+5928C= (n.787+5928C=) c.4355C= (p.Ser1452=) | |
| 8 | g.54628216C>G | CA370981973 | RP1 | c.4334C>G (p.Ser1445Cys) c.787+5928C>G (n.787+5928C>G) c.4355C>G (p.Ser1452Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54628216C>T | CA370981974 | RP1 | c.4334C>T (p.Ser1445Phe) c.787+5928C>T (n.787+5928C>T) c.4355C>T (p.Ser1452Phe) | gnomAD v4 |
| 8 | g.54628217T>A | CA461100169 | RP1 | c.4335T>A (p.Ser1445=) c.787+5929T>A (n.787+5929T>A) c.4356T>A (p.Ser1452=) | |
| 8 | g.54628217T>C | CA4751847 | RP1 | c.4335T>C (p.Ser1445=) c.787+5929T>C (n.787+5929T>C) c.4356T>C (p.Ser1452=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628217T>G | CA461100173 | RP1 | c.4335T>G (p.Ser1445=) c.787+5929T>G (n.787+5929T>G) c.4356T>G (p.Ser1452=) | |
| 8 | g.54628217T= | CA1785189092 | RP1 | c.4335T= (p.Ser1445=) c.787+5929T= (n.787+5929T=) c.4356T= (p.Ser1452=) | |
| 8 | g.54628218G>A | CA370981975 | RP1 | c.4336G>A (p.Glu1446Lys) c.787+5930G>A (n.787+5930G>A) c.4357G>A (p.Glu1453Lys) | |
| 8 | g.54628218G>C | CA370981976 | RP1 | c.4336G>C (p.Glu1446Gln) c.787+5930G>C (n.787+5930G>C) c.4357G>C (p.Glu1453Gln) | |
| 8 | g.54628218G>T | CA370981977 | RP1 | c.4336G>T (p.Glu1446Ter) c.787+5930G>T (n.787+5930G>T) c.4357G>T (p.Glu1453Ter) | |
| 8 | g.54628219A>C | CA370981979 | RP1 | c.4337A>C (p.Glu1446Ala) c.787+5931A>C (n.787+5931A>C) c.4358A>C (p.Glu1453Ala) | |
| 8 | g.54628219A>G | CA370981980 | RP1 | c.4337A>G (p.Glu1446Gly) c.787+5931A>G (n.787+5931A>G) c.4358A>G (p.Glu1453Gly) | ClinVar COSMIC |
| 8 | g.54628219A>T | CA370981978 | RP1 | c.4337A>T (p.Glu1446Val) c.787+5931A>T (n.787+5931A>T) c.4358A>T (p.Glu1453Val) | |
| 8 | g.54628220A= | CA1785189093 | RP1 | c.4338A= (p.Glu1446=) c.787+5932A= (n.787+5932A=) c.4359A= (p.Glu1453=) | |
| 8 | g.54628220A>C | CA4751848 | RP1 | c.4338A>C (p.Glu1446Asp) c.787+5932A>C (n.787+5932A>C) c.4359A>C (p.Glu1453Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54628220A>G | CA461100179 | RP1 | c.4338A>G (p.Glu1446=) c.787+5932A>G (n.787+5932A>G) c.4359A>G (p.Glu1453=) | |
| 8 | g.54628220A>T | CA370981981 | RP1 | c.4338A>T (p.Glu1446Asp) c.787+5932A>T (n.787+5932A>T) c.4359A>T (p.Glu1453Asp) | |
| 8 | g.54628221G>A | CA370981982 | RP1 | c.4339G>A (p.Glu1447Lys) c.787+5933G>A (n.787+5933G>A) c.4360G>A (p.Glu1454Lys) | |
| 8 | g.54628221G>C | CA370981983 | RP1 | c.4339G>C (p.Glu1447Gln) c.787+5933G>C (n.787+5933G>C) c.4360G>C (p.Glu1454Gln) | |
| 8 | g.54628221G>T | CA370981984 | RP1 | c.4339G>T (p.Glu1447Ter) c.787+5933G>T (n.787+5933G>T) c.4360G>T (p.Glu1454Ter) | gnomAD v4 |
| 8 | g.54628222A>C | CA370981985 | RP1 | c.4340A>C (p.Glu1447Ala) c.787+5934A>C (n.787+5934A>C) c.4361A>C (p.Glu1454Ala) | |
| 8 | g.54628222A>G | CA370981986 | RP1 | c.4340A>G (p.Glu1447Gly) c.787+5934A>G (n.787+5934A>G) c.4361A>G (p.Glu1454Gly) | |
| 8 | g.54628222A>T | CA370981987 | RP1 | c.4340A>T (p.Glu1447Val) c.787+5934A>T (n.787+5934A>T) c.4361A>T (p.Glu1454Val) | |
| 8 | g.54628223A>C | CA370981988 | RP1 | c.4341A>C (p.Glu1447Asp) c.787+5935A>C (n.787+5935A>C) c.4362A>C (p.Glu1454Asp) | |
| 8 | g.54628223A>G | CA461100183 | RP1 | c.4341A>G (p.Glu1447=) c.787+5935A>G (n.787+5935A>G) c.4362A>G (p.Glu1454=) | gnomAD v4 |
| 8 | g.54628223A>T | CA370981989 | RP1 | c.4341A>T (p.Glu1447Asp) c.787+5935A>T (n.787+5935A>T) c.4362A>T (p.Glu1454Asp) | gnomAD v4 |
| 8 | g.54628224C>A | CA370981990 | RP1 | c.4342C>A (p.Pro1448Thr) c.787+5936C>A (n.787+5936C>A) c.4363C>A (p.Pro1455Thr) | |
| 8 | g.54628224C>G | CA370981991 | RP1 | c.4342C>G (p.Pro1448Ala) c.787+5936C>G (n.787+5936C>G) c.4363C>G (p.Pro1455Ala) | gnomAD v4 |
| 8 | g.54628224C>T | CA370981992 | RP1 | c.4342C>T (p.Pro1448Ser) c.787+5936C>T (n.787+5936C>T) c.4363C>T (p.Pro1455Ser) | gnomAD v4 |
| 8 | g.54628225C>A | CA370981994 | RP1 | c.4343C>A (p.Pro1448Gln) c.787+5937C>A (n.787+5937C>A) c.4364C>A (p.Pro1455Gln) | |
| 8 | g.54628225C= | CA1785189094 | RP1 | c.4343C= (p.Pro1448=) c.787+5937C= (n.787+5937C=) c.4364C= (p.Pro1455=) | |
| 8 | g.54628225C>G | CA370981993 | RP1 | c.4343C>G (p.Pro1448Arg) c.787+5937C>G (n.787+5937C>G) c.4364C>G (p.Pro1455Arg) | |
| 8 | g.54628225C>T | CA4751849 | RP1 | c.4343C>T (p.Pro1448Leu) c.787+5937C>T (n.787+5937C>T) c.4364C>T (p.Pro1455Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628226A>C | CA461100189 | RP1 | c.4344A>C (p.Pro1448=) c.787+5938A>C (n.787+5938A>C) c.4365A>C (p.Pro1455=) | |
| 8 | g.54628226A>G | CA461100190 | RP1 | c.4344A>G (p.Pro1448=) c.787+5938A>G (n.787+5938A>G) c.4365A>G (p.Pro1455=) | gnomAD v4 |
| 8 | g.54628226A>T | CA461100191 | RP1 | c.4344A>T (p.Pro1448=) c.787+5938A>T (n.787+5938A>T) c.4365A>T (p.Pro1455=) | |
| 8 | g.54628227G>A | CA4751850 | RP1 | c.4345G>A (p.Gly1449Ser) c.787+5939G>A (n.787+5939G>A) c.4366G>A (p.Gly1456Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628227G>C | CA370981995 | RP1 | c.4345G>C (p.Gly1449Arg) c.787+5939G>C (n.787+5939G>C) c.4366G>C (p.Gly1456Arg) | |
| 8 | g.54628227G= | CA1785189095 | RP1 | c.4345G= (p.Gly1449=) c.787+5939G= (n.787+5939G=) c.4366G= (p.Gly1456=) | |
| 8 | g.54628227G>T | CA370981996 | RP1 | c.4345G>T (p.Gly1449Cys) c.787+5939G>T (n.787+5939G>T) c.4366G>T (p.Gly1456Cys) | |
| 8 | g.54628227_54628228delinsTT | CA645560585 | RP1 | c.4345_4346delinsTT (p.Gly1449Phe) c.787+5939_787+5940delinsTT (n.787+5939_787+5940delinsTT) c.4366_4367delinsTT (p.Gly1456Phe) | COSMIC |
| 8 | g.54628228G>A | CA370981997 | RP1 | c.4346G>A (p.Gly1449Asp) c.787+5940G>A (n.787+5940G>A) c.4367G>A (p.Gly1456Asp) | dbSNP gnomAD v4 |
| 8 | g.54628228G>C | CA370981998 | RP1 | c.4346G>C (p.Gly1449Ala) c.787+5940G>C (n.787+5940G>C) c.4367G>C (p.Gly1456Ala) | |
| 8 | g.54628228G= | CA1785189096 | RP1 | c.4346G= (p.Gly1449=) c.787+5940G= (n.787+5940G=) c.4367G= (p.Gly1456=) | |
| 8 | g.54628228G>T | CA370981999 | RP1 | c.4346G>T (p.Gly1449Val) c.787+5940G>T (n.787+5940G>T) c.4367G>T (p.Gly1456Val) | |
| 8 | g.54628229C>A | CA461100196 | RP1 | c.4347C>A (p.Gly1449=) c.787+5941C>A (n.787+5941C>A) c.4368C>A (p.Gly1456=) | |
| 8 | g.54628229C= | CA1785189097 | RP1 | c.4347C= (p.Gly1449=) c.787+5941C= (n.787+5941C=) c.4368C= (p.Gly1456=) | |
| 8 | g.54628229C>G | CA461100197 | RP1 | c.4347C>G (p.Gly1449=) c.787+5941C>G (n.787+5941C>G) c.4368C>G (p.Gly1456=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628229C>T | CA461100199 | RP1 | c.4347C>T (p.Gly1449=) c.787+5941C>T (n.787+5941C>T) c.4368C>T (p.Gly1456=) | dbSNP |
| 8 | g.54628230T>A | CA370982000 | RP1 | c.4348T>A (p.Ser1450Thr) c.787+5942T>A (n.787+5942T>A) c.4369T>A (p.Ser1457Thr) | |
| 8 | g.54628230T>C | CA370982001 | RP1 | c.4348T>C (p.Ser1450Pro) c.787+5942T>C (n.787+5942T>C) c.4369T>C (p.Ser1457Pro) | |
| 8 | g.54628230T>G | CA370982002 | RP1 | c.4348T>G (p.Ser1450Ala) c.787+5942T>G (n.787+5942T>G) c.4369T>G (p.Ser1457Ala) | |
| 8 | g.54628231C>A | CA370982003 | RP1 | c.4349C>A (p.Ser1450Ter) c.787+5943C>A (n.787+5943C>A) c.4370C>A (p.Ser1457Ter) | |
| 8 | g.54628231C= | CA1785189098 | RP1 | c.4349C= (p.Ser1450=) c.787+5943C= (n.787+5943C=) c.4370C= (p.Ser1457=) | |
| 8 | g.54628231C>G | CA370982004 | RP1 | c.4349C>G (p.Ser1450Ter) c.787+5943C>G (n.787+5943C>G) c.4370C>G (p.Ser1457Ter) | dbSNP |
| 8 | g.54628231C>T | CA4751851 | RP1 | c.4349C>T (p.Ser1450Leu) c.787+5943C>T (n.787+5943C>T) c.4370C>T (p.Ser1457Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54628232A= | CA1785189099 | RP1 | c.4350A= (p.Ser1450=) c.787+5944A= (n.787+5944A=) c.4371A= (p.Ser1457=) | |
| 8 | g.54628232A>C | CA461100204 | RP1 | c.4350A>C (p.Ser1450=) c.787+5944A>C (n.787+5944A>C) c.4371A>C (p.Ser1457=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54628232A>G | CA461100206 | RP1 | c.4350A>G (p.Ser1450=) c.787+5944A>G (n.787+5944A>G) c.4371A>G (p.Ser1457=) | |
| 8 | g.54628232A>T | CA461100207 | RP1 | c.4350A>T (p.Ser1450=) c.787+5944A>T (n.787+5944A>T) c.4371A>T (p.Ser1457=) | |
| 8 | g.54628233A= | CA1785189100 | RP1 | c.4351A= (p.Ile1451=) c.787+5945A= (n.787+5945A=) c.4372A= (p.Ile1458=) | |
| 8 | g.54628233A>C | CA370982005 | RP1 | c.4351A>C (p.Ile1451Leu) c.787+5945A>C (n.787+5945A>C) c.4372A>C (p.Ile1458Leu) | |
| 8 | g.54628233A>G | CA370982007 | RP1 | c.4351A>G (p.Ile1451Val) c.787+5945A>G (n.787+5945A>G) c.4372A>G (p.Ile1458Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54628233A>T | CA370982006 | RP1 | c.4351A>T (p.Ile1451Leu) c.787+5945A>T (n.787+5945A>T) c.4372A>T (p.Ile1458Leu) | |
| 8 | g.54628234T>A | CA370982008 | RP1 | c.4352T>A (p.Ile1451Lys) c.787+5946T>A (n.787+5946T>A) c.4373T>A (p.Ile1458Lys) | |
| 8 | g.54628234T>C | CA370982009 | RP1 | c.4352T>C (p.Ile1451Thr) c.787+5946T>C (n.787+5946T>C) c.4373T>C (p.Ile1458Thr) | |
| 8 | g.54628234T>G | CA4751852 | RP1 | c.4352T>G (p.Ile1451Arg) c.787+5946T>G (n.787+5946T>G) c.4373T>G (p.Ile1458Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54628234T= | CA1785189101 | RP1 | c.4352T= (p.Ile1451=) c.787+5946T= (n.787+5946T=) c.4373T= (p.Ile1458=) |