OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.54627779A= | CA1785188885 | RP1 | c.3897A= (p.Leu1299=) c.787+5491A= (n.787+5491A=) c.3918A= (p.Leu1306=) | |
| 8 | g.54627779A>C | CA461099366 | RP1 | c.3897A>C (p.Leu1299=) c.787+5491A>C (n.787+5491A>C) c.3918A>C (p.Leu1306=) | |
| 8 | g.54627779A>G | CA4751764 | RP1 | c.3897A>G (p.Leu1299=) c.787+5491A>G (n.787+5491A>G) c.3918A>G (p.Leu1306=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54627779A>T | CA461099368 | RP1 | c.3897A>T (p.Leu1299=) c.787+5491A>T (n.787+5491A>T) c.3918A>T (p.Leu1306=) | |
| 8 | g.54627780G>A | CA370980671 | RP1 | c.3898G>A (p.Gly1300Arg) c.787+5492G>A (n.787+5492G>A) c.3919G>A (p.Gly1307Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.54627780G>C | CA370980672 | RP1 | c.3898G>C (p.Gly1300Arg) c.787+5492G>C (n.787+5492G>C) c.3919G>C (p.Gly1307Arg) | |
| 8 | g.54627780G= | CA1785188886 | RP1 | c.3898G= (p.Gly1300=) c.787+5492G= (n.787+5492G=) c.3919G= (p.Gly1307=) | |
| 8 | g.54627780G>T | CA370980673 | RP1 | c.3898G>T (p.Gly1300Ter) c.787+5492G>T (n.787+5492G>T) c.3919G>T (p.Gly1307Ter) | |
| 8 | g.54627781G>A | CA370980674 | RP1 | c.3899G>A (p.Gly1300Glu) c.787+5493G>A (n.787+5493G>A) c.3920G>A (p.Gly1307Glu) | gnomAD v4 |
| 8 | g.54627781G>C | CA370980675 | RP1 | c.3899G>C (p.Gly1300Ala) c.787+5493G>C (n.787+5493G>C) c.3920G>C (p.Gly1307Ala) | |
| 8 | g.54627781G>T | CA370980676 | RP1 | c.3899G>T (p.Gly1300Val) c.787+5493G>T (n.787+5493G>T) c.3920G>T (p.Gly1307Val) | |
| 8 | g.54627782A>C | CA461099380 | RP1 | c.3900A>C (p.Gly1300=) c.787+5494A>C (n.787+5494A>C) c.3921A>C (p.Gly1307=) | |
| 8 | g.54627782A>G | CA461099379 | RP1 | c.3900A>G (p.Gly1300=) c.787+5494A>G (n.787+5494A>G) c.3921A>G (p.Gly1307=) | |
| 8 | g.54627782A>T | CA461099378 | RP1 | c.3900A>T (p.Gly1300=) c.787+5494A>T (n.787+5494A>T) c.3921A>T (p.Gly1307=) | |
| 8 | g.54627783G>A | CA370980677 | RP1 | c.3901G>A (p.Glu1301Lys) c.787+5495G>A (n.787+5495G>A) c.3922G>A (p.Glu1308Lys) | |
| 8 | g.54627783G>C | CA370980678 | RP1 | c.3901G>C (p.Glu1301Gln) c.787+5495G>C (n.787+5495G>C) c.3922G>C (p.Glu1308Gln) | |
| 8 | g.54627783G>T | CA370980679 | RP1 | c.3901G>T (p.Glu1301Ter) c.787+5495G>T (n.787+5495G>T) c.3922G>T (p.Glu1308Ter) | |
| 8 | g.54627784A= | CA1785188887 | RP1 | c.3902A= (p.Glu1301=) c.787+5496A= (n.787+5496A=) c.3923A= (p.Glu1308=) | |
| 8 | g.54627784A>C | CA370980680 | RP1 | c.3902A>C (p.Glu1301Ala) c.787+5496A>C (n.787+5496A>C) c.3923A>C (p.Glu1308Ala) | |
| 8 | g.54627784A>G | CA4751765 | RP1 | c.3902A>G (p.Glu1301Gly) c.787+5496A>G (n.787+5496A>G) c.3923A>G (p.Glu1308Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54627784A>T | CA370980681 | RP1 | c.3902A>T (p.Glu1301Val) c.787+5496A>T (n.787+5496A>T) c.3923A>T (p.Glu1308Val) | |
| 8 | g.54627785G>A | CA461099390 | RP1 | c.3903G>A (p.Glu1301=) c.787+5497G>A (n.787+5497G>A) c.3924G>A (p.Glu1308=) | COSMIC |
| 8 | g.54627785G>C | CA370980683 | RP1 | c.3903G>C (p.Glu1301Asp) c.787+5497G>C (n.787+5497G>C) c.3924G>C (p.Glu1308Asp) | |
| 8 | g.54627785G>T | CA370980682 | RP1 | c.3903G>T (p.Glu1301Asp) c.787+5497G>T (n.787+5497G>T) c.3924G>T (p.Glu1308Asp) | |
| 8 | g.54627786G>A | CA370980684 | RP1 | c.3904G>A (p.Val1302Ile) c.787+5498G>A (n.787+5498G>A) c.3925G>A (p.Val1309Ile) | dbSNP |
| 8 | g.54627786G>C | CA370980685 | RP1 | c.3904G>C (p.Val1302Leu) c.787+5498G>C (n.787+5498G>C) c.3925G>C (p.Val1309Leu) | |
| 8 | g.54627786G>T | CA370980686 | RP1 | c.3904G>T (p.Val1302Phe) c.787+5498G>T (n.787+5498G>T) c.3925G>T (p.Val1309Phe) | gnomAD v4 |
| 8 | g.54627787T>A | CA370980687 | RP1 | c.3905T>A (p.Val1302Asp) c.787+5499T>A (n.787+5499T>A) c.3926T>A (p.Val1309Asp) | |
| 8 | g.54627787T>C | CA370980688 | RP1 | c.3905T>C (p.Val1302Ala) c.787+5499T>C (n.787+5499T>C) c.3926T>C (p.Val1309Ala) | |
| 8 | g.54627787T>G | CA370980689 | RP1 | c.3905T>G (p.Val1302Gly) c.787+5499T>G (n.787+5499T>G) c.3926T>G (p.Val1309Gly) | |
| 8 | g.54627788C>A | CA461099398 | RP1 | c.3906C>A (p.Val1302=) c.787+5500C>A (n.787+5500C>A) c.3927C>A (p.Val1309=) | |
| 8 | g.54627788C>G | CA461099400 | RP1 | c.3906C>G (p.Val1302=) c.787+5500C>G (n.787+5500C>G) c.3927C>G (p.Val1309=) | COSMIC |
| 8 | g.54627788C>T | CA461099399 | RP1 | c.3906C>T (p.Val1302=) c.787+5500C>T (n.787+5500C>T) c.3927C>T (p.Val1309=) | COSMIC |
| 8 | g.54627789T>A | CA370980692 | RP1 | c.3907T>A (p.Cys1303Ser) c.787+5501T>A (n.787+5501T>A) c.3928T>A (p.Cys1310Ser) | |
| 8 | g.54627789T>C | CA370980690 | RP1 | c.3907T>C (p.Cys1303Arg) c.787+5501T>C (n.787+5501T>C) c.3928T>C (p.Cys1310Arg) | dbSNP |
| 8 | g.54627789T>G | CA370980691 | RP1 | c.3907T>G (p.Cys1303Gly) c.787+5501T>G (n.787+5501T>G) c.3928T>G (p.Cys1310Gly) | |
| 8 | g.54627789T= | CA1785188888 | RP1 | c.3907T= (p.Cys1303=) c.787+5501T= (n.787+5501T=) c.3928T= (p.Cys1310=) | |
| 8 | g.54627790G>A | CA370980693 | RP1 | c.3908G>A (p.Cys1303Tyr) c.787+5502G>A (n.787+5502G>A) c.3929G>A (p.Cys1310Tyr) | |
| 8 | g.54627790G>C | CA370980694 | RP1 | c.3908G>C (p.Cys1303Ser) c.787+5502G>C (n.787+5502G>C) c.3929G>C (p.Cys1310Ser) | |
| 8 | g.54627790G>T | CA370980695 | RP1 | c.3908G>T (p.Cys1303Phe) c.787+5502G>T (n.787+5502G>T) c.3929G>T (p.Cys1310Phe) | |
| 8 | g.54627791T>A | CA370980696 | RP1 | c.3909T>A (p.Cys1303Ter) c.787+5503T>A (n.787+5503T>A) c.3930T>A (p.Cys1310Ter) | |
| 8 | g.54627791T>C | CA461099403 | RP1 | c.3909T>C (p.Cys1303=) c.787+5503T>C (n.787+5503T>C) c.3930T>C (p.Cys1310=) | |
| 8 | g.54627791T>G | CA370980697 | RP1 | c.3909T>G (p.Cys1303Trp) c.787+5503T>G (n.787+5503T>G) c.3930T>G (p.Cys1310Trp) | |
| 8 | g.54627792T>A | CA370980700 | RP1 | c.3910T>A (p.Ser1304Thr) c.787+5504T>A (n.787+5504T>A) c.3931T>A (p.Ser1311Thr) | |
| 8 | g.54627792T>C | CA370980699 | RP1 | c.3910T>C (p.Ser1304Pro) c.787+5504T>C (n.787+5504T>C) c.3931T>C (p.Ser1311Pro) | |
| 8 | g.54627792T>G | CA370980698 | RP1 | c.3910T>G (p.Ser1304Ala) c.787+5504T>G (n.787+5504T>G) c.3931T>G (p.Ser1311Ala) | |
| 8 | g.54627793C>A | CA370980701 | RP1 | c.3911C>A (p.Ser1304Ter) c.787+5505C>A (n.787+5505C>A) c.3932C>A (p.Ser1311Ter) | |
| 8 | g.54627793C>G | CA370980702 | RP1 | c.3911C>G (p.Ser1304Ter) c.787+5505C>G (n.787+5505C>G) c.3932C>G (p.Ser1311Ter) | |
| 8 | g.54627793C>T | CA370980703 | RP1 | c.3911C>T (p.Ser1304Leu) c.787+5505C>T (n.787+5505C>T) c.3932C>T (p.Ser1311Leu) | |
| 8 | g.54627794A= | CA1785188889 | RP1 | c.3912A= (p.Ser1304=) c.787+5506A= (n.787+5506A=) c.3933A= (p.Ser1311=) | |
| 8 | g.54627794A>C | CA461099419 | RP1 | c.3912A>C (p.Ser1304=) c.787+5506A>C (n.787+5506A>C) c.3933A>C (p.Ser1311=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54627794A>G | CA461099420 | RP1 | c.3912A>G (p.Ser1304=) c.787+5506A>G (n.787+5506A>G) c.3933A>G (p.Ser1311=) | dbSNP gnomAD v4 |
| 8 | g.54627794A>T | CA461099421 | RP1 | c.3912A>T (p.Ser1304=) c.787+5506A>T (n.787+5506A>T) c.3933A>T (p.Ser1311=) | |
| 8 | g.54627795C>A | CA370980704 | RP1 | c.3913C>A (p.Leu1305Ile) c.787+5507C>A (n.787+5507C>A) c.3934C>A (p.Leu1312Ile) | |
| 8 | g.54627795C= | CA1785188890 | RP1 | c.3913C= (p.Leu1305=) c.787+5507C= (n.787+5507C=) c.3934C= (p.Leu1312=) | |
| 8 | g.54627795C>G | CA370980705 | RP1 | c.3913C>G (p.Leu1305Val) c.787+5507C>G (n.787+5507C>G) c.3934C>G (p.Leu1312Val) | |
| 8 | g.54627795C>T | CA4751766 | RP1 | c.3913C>T (p.Leu1305Phe) c.787+5507C>T (n.787+5507C>T) c.3934C>T (p.Leu1312Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54627796T>A | CA370980708 | RP1 | c.3914T>A (p.Leu1305His) c.787+5508T>A (n.787+5508T>A) c.3935T>A (p.Leu1312His) | |
| 8 | g.54627796T>C | CA370980707 | RP1 | c.3914T>C (p.Leu1305Pro) c.787+5508T>C (n.787+5508T>C) c.3935T>C (p.Leu1312Pro) | |
| 8 | g.54627796T>G | CA370980706 | RP1 | c.3914T>G (p.Leu1305Arg) c.787+5508T>G (n.787+5508T>G) c.3935T>G (p.Leu1312Arg) | |
| 8 | g.54627796_54627802delinsTTACTGA | CA1785188891 | RP1 | c.3914_3920delinsTTACTGA (p.Leu1305=) c.787+5508_787+5514delinsTTACTGA (n.787+5508_787+5514delinsTTACTGA) c.3935_3941delinsTTACTGA (p.Leu1312=) | |
| 8 | g.54627797T>A | CA461099423 | RP1 | c.3915T>A (p.Leu1305=) c.787+5509T>A (n.787+5509T>A) c.3936T>A (p.Leu1312=) | |
| 8 | g.54627797T>C | CA461099426 | RP1 | c.3915T>C (p.Leu1305=) c.787+5509T>C (n.787+5509T>C) c.3936T>C (p.Leu1312=) | dbSNP gnomAD v4 |
| 8 | g.54627797T>G | CA461099427 | RP1 | c.3915T>G (p.Leu1305=) c.787+5509T>G (n.787+5509T>G) c.3936T>G (p.Leu1312=) | |
| 8 | g.54627797T= | CA1785188892 | RP1 | c.3915T= (p.Leu1305=) c.787+5509T= (n.787+5509T=) c.3936T= (p.Leu1312=) | |
| 8 | g.54627802_54627807del | CA177180869 | RP1 | c.3920_3925del (p.Asp1307_Thr1308del) c.787+5514_787+5519del (n.787+5514_787+5519del) c.3941_3946del (p.Asp1314_Thr1315del) | dbSNP |
| 8 | g.54627798A= | CA1785188893 | RP1 | c.3916A= (p.Thr1306=) c.787+5510A= (n.787+5510A=) c.3937A= (p.Thr1313=) | |
| 8 | g.54627798A>C | CA370980709 | RP1 | c.3916A>C (p.Thr1306Pro) c.787+5510A>C (n.787+5510A>C) c.3937A>C (p.Thr1313Pro) | |
| 8 | g.54627798A>G | CA370980710 | RP1 | c.3916A>G (p.Thr1306Ala) c.787+5510A>G (n.787+5510A>G) c.3937A>G (p.Thr1313Ala) | dbSNP gnomAD v4 |
| 8 | g.54627798A>T | CA370980711 | RP1 | c.3916A>T (p.Thr1306Ser) c.787+5510A>T (n.787+5510A>T) c.3937A>T (p.Thr1313Ser) | |
| 8 | g.54627799C>A | CA370980712 | RP1 | c.3917C>A (p.Thr1306Asn) c.787+5511C>A (n.787+5511C>A) c.3938C>A (p.Thr1313Asn) | |
| 8 | g.54627799C>G | CA370980713 | RP1 | c.3917C>G (p.Thr1306Ser) c.787+5511C>G (n.787+5511C>G) c.3938C>G (p.Thr1313Ser) | |
| 8 | g.54627799C>T | CA370980714 | RP1 | c.3917C>T (p.Thr1306Ile) c.787+5511C>T (n.787+5511C>T) c.3938C>T (p.Thr1313Ile) | |
| 8 | g.54627800T>A | CA461099435 | RP1 | c.3918T>A (p.Thr1306=) c.787+5512T>A (n.787+5512T>A) c.3939T>A (p.Thr1313=) | |
| 8 | g.54627800T>C | CA461099436 | RP1 | c.3918T>C (p.Thr1306=) c.787+5512T>C (n.787+5512T>C) c.3939T>C (p.Thr1313=) | dbSNP |
| 8 | g.54627800T>G | CA461099438 | RP1 | c.3918T>G (p.Thr1306=) c.787+5512T>G (n.787+5512T>G) c.3939T>G (p.Thr1313=) | |
| 8 | g.54627801G>A | CA370980715 | RP1 | c.3919G>A (p.Asp1307Asn) c.787+5513G>A (n.787+5513G>A) c.3940G>A (p.Asp1314Asn) | COSMIC |
| 8 | g.54627801G>C | CA370980716 | RP1 | c.3919G>C (p.Asp1307His) c.787+5513G>C (n.787+5513G>C) c.3940G>C (p.Asp1314His) | |
| 8 | g.54627801G= | CA1785188894 | RP1 | c.3919G= (p.Asp1307=) c.787+5513G= (n.787+5513G=) c.3940G= (p.Asp1314=) | |
| 8 | g.54627801G>T | CA177180891 | RP1 | c.3919G>T (p.Asp1307Tyr) c.787+5513G>T (n.787+5513G>T) c.3940G>T (p.Asp1314Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54627802A>C | CA370980717 | RP1 | c.3920A>C (p.Asp1307Ala) c.787+5514A>C (n.787+5514A>C) c.3941A>C (p.Asp1314Ala) | |
| 8 | g.54627802A>G | CA370980718 | RP1 | c.3920A>G (p.Asp1307Gly) c.787+5514A>G (n.787+5514A>G) c.3941A>G (p.Asp1314Gly) | |
| 8 | g.54627802A>T | CA370980719 | RP1 | c.3920A>T (p.Asp1307Val) c.787+5514A>T (n.787+5514A>T) c.3941A>T (p.Asp1314Val) | |
| 8 | g.54627803T>A | CA370980720 | RP1 | c.3921T>A (p.Asp1307Glu) c.787+5515T>A (n.787+5515T>A) c.3942T>A (p.Asp1314Glu) | |
| 8 | g.54627803T>C | CA4751767 | RP1 | c.3921T>C (p.Asp1307=) c.787+5515T>C (n.787+5515T>C) c.3942T>C (p.Asp1314=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54627803T>G | CA370980721 | RP1 | c.3921T>G (p.Asp1307Glu) c.787+5515T>G (n.787+5515T>G) c.3942T>G (p.Asp1314Glu) | |
| 8 | g.54627803T= | CA1785188895 | RP1 | c.3921T= (p.Asp1307=) c.787+5515T= (n.787+5515T=) c.3942T= (p.Asp1314=) | |
| 8 | g.54627803_54627808dup | CA2687301880 | RP1 | c.3921_3926dup (p.Val1309_Phe1310insThrVal) c.787+5515_787+5520dup (n.787+5515_787+5520dup) c.3942_3947dup (p.Val1316_Phe1317insThrVal) | gnomAD v4 |
| 8 | g.54627804A>C | CA370980722 | RP1 | c.3922A>C (p.Thr1308Pro) c.787+5516A>C (n.787+5516A>C) c.3943A>C (p.Thr1315Pro) | |
| 8 | g.54627804A>G | CA370980723 | RP1 | c.3922A>G (p.Thr1308Ala) c.787+5516A>G (n.787+5516A>G) c.3943A>G (p.Thr1315Ala) | gnomAD v4 |
| 8 | g.54627804A>T | CA370980724 | RP1 | c.3922A>T (p.Thr1308Ser) c.787+5516A>T (n.787+5516A>T) c.3943A>T (p.Thr1315Ser) | |
| 8 | g.54627805C>A | CA370980725 | RP1 | c.3923C>A (p.Thr1308Asn) c.787+5517C>A (n.787+5517C>A) c.3944C>A (p.Thr1315Asn) | COSMIC |
| 8 | g.54627805C>G | CA370980726 | RP1 | c.3923C>G (p.Thr1308Ser) c.787+5517C>G (n.787+5517C>G) c.3944C>G (p.Thr1315Ser) | |
| 8 | g.54627805C>T | CA370980727 | RP1 | c.3923C>T (p.Thr1308Ile) c.787+5517C>T (n.787+5517C>T) c.3944C>T (p.Thr1315Ile) | |
| 8 | g.54627806T>A | CA461099450 | RP1 | c.3924T>A (p.Thr1308=) c.787+5518T>A (n.787+5518T>A) c.3945T>A (p.Thr1315=) | |
| 8 | g.54627806T>C | CA461099453 | RP1 | c.3924T>C (p.Thr1308=) c.787+5518T>C (n.787+5518T>C) c.3945T>C (p.Thr1315=) | dbSNP |
| 8 | g.54627806T>G | CA461099452 | RP1 | c.3924T>G (p.Thr1308=) c.787+5518T>G (n.787+5518T>G) c.3945T>G (p.Thr1315=) | |
| 8 | g.54627806T= | CA1785188896 | RP1 | c.3924T= (p.Thr1308=) c.787+5518T= (n.787+5518T=) c.3945T= (p.Thr1315=) | |
| 8 | g.54627807G>A | CA370980728 | RP1 | c.3925G>A (p.Val1309Met) c.787+5519G>A (n.787+5519G>A) c.3946G>A (p.Val1316Met) | |
| 8 | g.54627807G>C | CA370980730 | RP1 | c.3925G>C (p.Val1309Leu) c.787+5519G>C (n.787+5519G>C) c.3946G>C (p.Val1316Leu) | |
| 8 | g.54627807G>T | CA370980729 | RP1 | c.3925G>T (p.Val1309Leu) c.787+5519G>T (n.787+5519G>T) c.3946G>T (p.Val1316Leu) | |
| 8 | g.54627808T>A | CA370980731 | RP1 | c.3926T>A (p.Val1309Glu) c.787+5520T>A (n.787+5520T>A) c.3947T>A (p.Val1316Glu) | |
| 8 | g.54627808T>C | CA370980732 | RP1 | c.3926T>C (p.Val1309Ala) c.787+5520T>C (n.787+5520T>C) c.3947T>C (p.Val1316Ala) | |
| 8 | g.54627808T>G | CA370980733 | RP1 | c.3926T>G (p.Val1309Gly) c.787+5520T>G (n.787+5520T>G) c.3947T>G (p.Val1316Gly) | |
| 8 | g.54627809G>A | CA461099458 | RP1 | c.3927G>A (p.Val1309=) c.787+5521G>A (n.787+5521G>A) c.3948G>A (p.Val1316=) | |
| 8 | g.54627809G>C | CA461099459 | RP1 | c.3927G>C (p.Val1309=) c.787+5521G>C (n.787+5521G>C) c.3948G>C (p.Val1316=) | |
| 8 | g.54627809G>T | CA461099460 | RP1 | c.3927G>T (p.Val1309=) c.787+5521G>T (n.787+5521G>T) c.3948G>T (p.Val1316=) | |
| 8 | g.54627810T>A | CA370980734 | RP1 | c.3928T>A (p.Phe1310Ile) c.787+5522T>A (n.787+5522T>A) c.3949T>A (p.Phe1317Ile) | |
| 8 | g.54627810T>C | CA370980735 | RP1 | c.3928T>C (p.Phe1310Leu) c.787+5522T>C (n.787+5522T>C) c.3949T>C (p.Phe1317Leu) | |
| 8 | g.54627810T>G | CA370980736 | RP1 | c.3928T>G (p.Phe1310Val) c.787+5522T>G (n.787+5522T>G) c.3949T>G (p.Phe1317Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54627810T= | CA1785188897 | RP1 | c.3928T= (p.Phe1310=) c.787+5522T= (n.787+5522T=) c.3949T= (p.Phe1317=) | |
| 8 | g.54627811T>A | CA370980739 | RP1 | c.3929T>A (p.Phe1310Tyr) c.787+5523T>A (n.787+5523T>A) c.3950T>A (p.Phe1317Tyr) | |
| 8 | g.54627811T>C | CA370980737 | RP1 | c.3929T>C (p.Phe1310Ser) c.787+5523T>C (n.787+5523T>C) c.3950T>C (p.Phe1317Ser) | dbSNP gnomAD v4 |
| 8 | g.54627811T>G | CA370980738 | RP1 | c.3929T>G (p.Phe1310Cys) c.787+5523T>G (n.787+5523T>G) c.3950T>G (p.Phe1317Cys) | |
| 8 | g.54627812T>A | CA370980740 | RP1 | c.3930T>A (p.Phe1310Leu) c.787+5524T>A (n.787+5524T>A) c.3951T>A (p.Phe1317Leu) | |
| 8 | g.54627812T>C | CA461099475 | RP1 | c.3930T>C (p.Phe1310=) c.787+5524T>C (n.787+5524T>C) c.3951T>C (p.Phe1317=) | |
| 8 | g.54627812T>G | CA370980741 | RP1 | c.3930T>G (p.Phe1310Leu) c.787+5524T>G (n.787+5524T>G) c.3951T>G (p.Phe1317Leu) | |
| 8 | g.54627813T>A | CA370980742 | RP1 | c.3931T>A (p.Ser1311Thr) c.787+5525T>A (n.787+5525T>A) c.3952T>A (p.Ser1318Thr) | |
| 8 | g.54627813T>C | CA370980743 | RP1 | c.3931T>C (p.Ser1311Pro) c.787+5525T>C (n.787+5525T>C) c.3952T>C (p.Ser1318Pro) | |
| 8 | g.54627813T>G | CA370980744 | RP1 | c.3931T>G (p.Ser1311Ala) c.787+5525T>G (n.787+5525T>G) c.3952T>G (p.Ser1318Ala) | |
| 8 | g.54627814C>A | CA370980745 | RP1 | c.3932C>A (p.Ser1311Tyr) c.787+5526C>A (n.787+5526C>A) c.3953C>A (p.Ser1318Tyr) | |
| 8 | g.54627814C>G | CA370980747 | RP1 | c.3932C>G (p.Ser1311Cys) c.787+5526C>G (n.787+5526C>G) c.3953C>G (p.Ser1318Cys) | |
| 8 | g.54627814C>T | CA370980746 | RP1 | c.3932C>T (p.Ser1311Phe) c.787+5526C>T (n.787+5526C>T) c.3953C>T (p.Ser1318Phe) | gnomAD v4 |
| 8 | g.54627815T>A | CA461099489 | RP1 | c.3933T>A (p.Ser1311=) c.787+5527T>A (n.787+5527T>A) c.3954T>A (p.Ser1318=) | |
| 8 | g.54627815T>C | CA461099491 | RP1 | c.3933T>C (p.Ser1311=) c.787+5527T>C (n.787+5527T>C) c.3954T>C (p.Ser1318=) | |
| 8 | g.54627815T>G | CA461099492 | RP1 | c.3933T>G (p.Ser1311=) c.787+5527T>G (n.787+5527T>G) c.3954T>G (p.Ser1318=) | |
| 8 | g.54627816G>A | CA370980748 | RP1 | c.3934G>A (p.Asp1312Asn) c.787+5528G>A (n.787+5528G>A) c.3955G>A (p.Asp1319Asn) | ClinVar gnomAD v4 COSMIC |
| 8 | g.54627816G>C | CA370980749 | RP1 | c.3934G>C (p.Asp1312His) c.787+5528G>C (n.787+5528G>C) c.3955G>C (p.Asp1319His) | |
| 8 | g.54627816G>T | CA370980750 | RP1 | c.3934G>T (p.Asp1312Tyr) c.787+5528G>T (n.787+5528G>T) c.3955G>T (p.Asp1319Tyr) | |
| 8 | g.54627817A>C | CA370980751 | RP1 | c.3935A>C (p.Asp1312Ala) c.787+5529A>C (n.787+5529A>C) c.3956A>C (p.Asp1319Ala) | |
| 8 | g.54627817A>G | CA370980752 | RP1 | c.3935A>G (p.Asp1312Gly) c.787+5529A>G (n.787+5529A>G) c.3956A>G (p.Asp1319Gly) | |
| 8 | g.54627817A>T | CA370980753 | RP1 | c.3935A>T (p.Asp1312Val) c.787+5529A>T (n.787+5529A>T) c.3956A>T (p.Asp1319Val) | gnomAD v4 |
| 8 | g.54627818T>A | CA370980754 | RP1 | c.3936T>A (p.Asp1312Glu) c.787+5530T>A (n.787+5530T>A) c.3957T>A (p.Asp1319Glu) | |
| 8 | g.54627818T>C | CA461099495 | RP1 | c.3936T>C (p.Asp1312=) c.787+5530T>C (n.787+5530T>C) c.3957T>C (p.Asp1319=) | |
| 8 | g.54627818T>G | CA370980755 | RP1 | c.3936T>G (p.Asp1312Glu) c.787+5530T>G (n.787+5530T>G) c.3957T>G (p.Asp1319Glu) | |
| 8 | g.54627819A>C | CA370980756 | RP1 | c.3937A>C (p.Lys1313Gln) c.787+5531A>C (n.787+5531A>C) c.3958A>C (p.Lys1320Gln) | |
| 8 | g.54627819A>G | CA370980757 | RP1 | c.3937A>G (p.Lys1313Glu) c.787+5531A>G (n.787+5531A>G) c.3958A>G (p.Lys1320Glu) | |
| 8 | g.54627819A>T | CA370980758 | RP1 | c.3937A>T (p.Lys1313Ter) c.787+5531A>T (n.787+5531A>T) c.3958A>T (p.Lys1320Ter) | COSMIC |
| 8 | g.54627820A= | CA1785188898 | RP1 | c.3938A= (p.Lys1313=) c.787+5532A= (n.787+5532A=) c.3959A= (p.Lys1320=) | |
| 8 | g.54627820A>C | CA370980760 | RP1 | c.3938A>C (p.Lys1313Thr) c.787+5532A>C (n.787+5532A>C) c.3959A>C (p.Lys1320Thr) | dbSNP |
| 8 | g.54627820A>G | CA370980761 | RP1 | c.3938A>G (p.Lys1313Arg) c.787+5532A>G (n.787+5532A>G) c.3959A>G (p.Lys1320Arg) | |
| 8 | g.54627820A>T | CA370980759 | RP1 | c.3938A>T (p.Lys1313Met) c.787+5532A>T (n.787+5532A>T) c.3959A>T (p.Lys1320Met) | |
| 8 | g.54627821G>A | CA461099501 | RP1 | c.3939G>A (p.Lys1313=) c.787+5533G>A (n.787+5533G>A) c.3960G>A (p.Lys1320=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627821G>C | CA370980762 | RP1 | c.3939G>C (p.Lys1313Asn) c.787+5533G>C (n.787+5533G>C) c.3960G>C (p.Lys1320Asn) | |
| 8 | g.54627821G= | CA1785188899 | RP1 | c.3939G= (p.Lys1313=) c.787+5533G= (n.787+5533G=) c.3960G= (p.Lys1320=) | |
| 8 | g.54627821G>T | CA370980763 | RP1 | c.3939G>T (p.Lys1313Asn) c.787+5533G>T (n.787+5533G>T) c.3960G>T (p.Lys1320Asn) | |
| 8 | g.54627822G>A | CA4751769 | RP1 | c.3940G>A (p.Ala1314Thr) c.787+5534G>A (n.787+5534G>A) c.3961G>A (p.Ala1321Thr) | dbSNP ExAC gnomAD v2 COSMIC |
| 8 | g.54627822G>C | CA4751768 | RP1 | c.3940G>C (p.Ala1314Pro) c.787+5534G>C (n.787+5534G>C) c.3961G>C (p.Ala1321Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627822G= | CA1785188900 | RP1 | c.3940G= (p.Ala1314=) c.787+5534G= (n.787+5534G=) c.3961G= (p.Ala1321=) | |
| 8 | g.54627822G>T | CA370980764 | RP1 | c.3940G>T (p.Ala1314Ser) c.787+5534G>T (n.787+5534G>T) c.3961G>T (p.Ala1321Ser) | |
| 8 | g.54627823C>A | CA4751771 | RP1 | c.3941C>A (p.Ala1314Asp) c.787+5535C>A (n.787+5535C>A) c.3962C>A (p.Ala1321Asp) | dbSNP ExAC |
| 8 | g.54627823C= | CA1785188901 | RP1 | c.3941C= (p.Ala1314=) c.787+5535C= (n.787+5535C=) c.3962C= (p.Ala1321=) | |
| 8 | g.54627823C>G | CA370980765 | RP1 | c.3941C>G (p.Ala1314Gly) c.787+5535C>G (n.787+5535C>G) c.3962C>G (p.Ala1321Gly) | |
| 8 | g.54627823C>T | CA4751770 | RP1 | c.3941C>T (p.Ala1314Val) c.787+5535C>T (n.787+5535C>T) c.3962C>T (p.Ala1321Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.54627824T>A | CA461099509 | RP1 | c.3942T>A (p.Ala1314=) c.787+5536T>A (n.787+5536T>A) c.3963T>A (p.Ala1321=) | |
| 8 | g.54627824T>C | CA4751772 | RP1 | c.3942T>C (p.Ala1314=) c.787+5536T>C (n.787+5536T>C) c.3963T>C (p.Ala1321=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627824T>G | CA461099513 | RP1 | c.3942T>G (p.Ala1314=) c.787+5536T>G (n.787+5536T>G) c.3963T>G (p.Ala1321=) | |
| 8 | g.54627824T= | CA1785188902 | RP1 | c.3942T= (p.Ala1314=) c.787+5536T= (n.787+5536T=) c.3963T= (p.Ala1321=) | |
| 8 | g.54627825T>A | CA370980767 | RP1 | c.3943T>A (p.Cys1315Ser) c.787+5537T>A (n.787+5537T>A) c.3964T>A (p.Cys1322Ser) | |
| 8 | g.54627825T>C | CA4751773 | RP1 | c.3943T>C (p.Cys1315Arg) c.787+5537T>C (n.787+5537T>C) c.3964T>C (p.Cys1322Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627825T>G | CA370980766 | RP1 | c.3943T>G (p.Cys1315Gly) c.787+5537T>G (n.787+5537T>G) c.3964T>G (p.Cys1322Gly) | |
| 8 | g.54627825T= | CA1785188903 | RP1 | c.3943T= (p.Cys1315=) c.787+5537T= (n.787+5537T=) c.3964T= (p.Cys1322=) | |
| 8 | g.54627826G>A | CA370980768 | RP1 | c.3944G>A (p.Cys1315Tyr) c.787+5538G>A (n.787+5538G>A) c.3965G>A (p.Cys1322Tyr) | ClinVar dbSNP |
| 8 | g.54627826G>C | CA370980769 | RP1 | c.3944G>C (p.Cys1315Ser) c.787+5538G>C (n.787+5538G>C) c.3965G>C (p.Cys1322Ser) | |
| 8 | g.54627826G>T | CA370980770 | RP1 | c.3944G>T (p.Cys1315Phe) c.787+5538G>T (n.787+5538G>T) c.3965G>T (p.Cys1322Phe) | ClinVar gnomAD v4 |
| 8 | g.54627827T>A | CA370980771 | RP1 | c.3945T>A (p.Cys1315Ter) c.787+5539T>A (n.787+5539T>A) c.3966T>A (p.Cys1322Ter) | |
| 8 | g.54627827T>C | CA461099517 | RP1 | c.3945T>C (p.Cys1315=) c.787+5539T>C (n.787+5539T>C) c.3966T>C (p.Cys1322=) | |
| 8 | g.54627827T>G | CA370980772 | RP1 | c.3945T>G (p.Cys1315Trp) c.787+5539T>G (n.787+5539T>G) c.3966T>G (p.Cys1322Trp) | |
| 8 | g.54627828G>A | CA370980773 | RP1 | c.3946G>A (p.Ala1316Thr) c.787+5540G>A (n.787+5540G>A) c.3967G>A (p.Ala1323Thr) | ClinVar |
| 8 | g.54627828G>C | CA370980774 | RP1 | c.3946G>C (p.Ala1316Pro) c.787+5540G>C (n.787+5540G>C) c.3967G>C (p.Ala1323Pro) | |
| 8 | g.54627828G= | CA1785188904 | RP1 | c.3946G= (p.Ala1316=) c.787+5540G= (n.787+5540G=) c.3967G= (p.Ala1323=) | |
| 8 | g.54627828G>T | CA4751774 | RP1 | c.3946G>T (p.Ala1316Ser) c.787+5540G>T (n.787+5540G>T) c.3967G>T (p.Ala1323Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627828_54627829delinsTT | CA2573143177 | RP1 | c.3946_3947delinsTT (p.Ala1316Phe) c.787+5540_787+5541delinsTT (n.787+5540_787+5541delinsTT) c.3967_3968delinsTT (p.Ala1323Phe) | ClinVar dbSNP |
| 8 | g.54627829C>A | CA370980775 | RP1 | c.3947C>A (p.Ala1316Asp) c.787+5541C>A (n.787+5541C>A) c.3968C>A (p.Ala1323Asp) | |
| 8 | g.54627829C= | CA1785188905 | RP1 | c.3947C= (p.Ala1316=) c.787+5541C= (n.787+5541C=) c.3968C= (p.Ala1323=) | |
| 8 | g.54627829C>G | CA370980776 | RP1 | c.3947C>G (p.Ala1316Gly) c.787+5541C>G (n.787+5541C>G) c.3968C>G (p.Ala1323Gly) | |
| 8 | g.54627829C>T | CA4751775 | RP1 | c.3947C>T (p.Ala1316Val) c.787+5541C>T (n.787+5541C>T) c.3968C>T (p.Ala1323Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627830T>A | CA461099522 | RP1 | c.3948T>A (p.Ala1316=) c.787+5542T>A (n.787+5542T>A) c.3969T>A (p.Ala1323=) | |
| 8 | g.54627830T>C | CA461099523 | RP1 | c.3948T>C (p.Ala1316=) c.787+5542T>C (n.787+5542T>C) c.3969T>C (p.Ala1323=) | |
| 8 | g.54627830T>G | CA461099520 | RP1 | c.3948T>G (p.Ala1316=) c.787+5542T>G (n.787+5542T>G) c.3969T>G (p.Ala1323=) | |
| 8 | g.54627831C>A | CA370980779 | RP1 | c.3949C>A (p.Gln1317Lys) c.787+5543C>A (n.787+5543C>A) c.3970C>A (p.Gln1324Lys) | |
| 8 | g.54627831C>G | CA370980778 | RP1 | c.3949C>G (p.Gln1317Glu) c.787+5543C>G (n.787+5543C>G) c.3970C>G (p.Gln1324Glu) | |
| 8 | g.54627831C>T | CA370980777 | RP1 | c.3949C>T (p.Gln1317Ter) c.787+5543C>T (n.787+5543C>T) c.3970C>T (p.Gln1324Ter) | ClinVar dbSNP |
| 8 | g.54627831_54627832delinsCA | CA1785188906 | RP1 | c.3949_3950delinsCA (p.Gln1317=) c.787+5543_787+5544delinsCA (n.787+5543_787+5544delinsCA) c.3970_3971delinsCA (p.Gln1324=) | |
| 8 | g.54627832A= | CA1785188907 | RP1 | c.3950A= (p.Gln1317=) c.787+5544A= (n.787+5544A=) c.3971A= (p.Gln1324=) | |
| 8 | g.54627832A>C | CA370980780 | RP1 | c.3950A>C (p.Gln1317Pro) c.787+5544A>C (n.787+5544A>C) c.3971A>C (p.Gln1324Pro) | |
| 8 | g.54627832A>G | CA4751776 | RP1 | c.3950A>G (p.Gln1317Arg) c.787+5544A>G (n.787+5544A>G) c.3971A>G (p.Gln1324Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54627832A>T | CA370980781 | RP1 | c.3950A>T (p.Gln1317Leu) c.787+5544A>T (n.787+5544A>T) c.3971A>T (p.Gln1324Leu) | |
| 8 | g.54627835del | CA1114000356 | RP1 | c.3953del (p.Lys1318ArgfsTer28) c.787+5547del (n.787+5547del) c.3974del (p.Lys1325ArgfsTer28) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54627833A= | CA1785188908 | RP1 | c.3951A= (p.Gln1317=) c.787+5545A= (n.787+5545A=) c.3972A= (p.Gln1324=) | |
| 8 | g.54627833A>C | CA370980782 | RP1 | c.3951A>C (p.Gln1317His) c.787+5545A>C (n.787+5545A>C) c.3972A>C (p.Gln1324His) | |
| 8 | g.54627833A>G | CA461099528 | RP1 | c.3951A>G (p.Gln1317=) c.787+5545A>G (n.787+5545A>G) c.3972A>G (p.Gln1324=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627833A>T | CA370980783 | RP1 | c.3951A>T (p.Gln1317His) c.787+5545A>T (n.787+5545A>T) c.3972A>T (p.Gln1324His) | |
| 8 | g.54627834A>C | CA370980784 | RP1 | c.3952A>C (p.Lys1318Gln) c.787+5546A>C (n.787+5546A>C) c.3973A>C (p.Lys1325Gln) | |
| 8 | g.54627834A>G | CA370980785 | RP1 | c.3952A>G (p.Lys1318Glu) c.787+5546A>G (n.787+5546A>G) c.3973A>G (p.Lys1325Glu) | |
| 8 | g.54627834A>T | CA370980786 | RP1 | c.3952A>T (p.Lys1318Ter) c.787+5546A>T (n.787+5546A>T) c.3973A>T (p.Lys1325Ter) | |
| 8 | g.54627835A>C | CA370980787 | RP1 | c.3953A>C (p.Lys1318Thr) c.787+5547A>C (n.787+5547A>C) c.3974A>C (p.Lys1325Thr) | |
| 8 | g.54627835A>G | CA370980788 | RP1 | c.3953A>G (p.Lys1318Arg) c.787+5547A>G (n.787+5547A>G) c.3974A>G (p.Lys1325Arg) | |
| 8 | g.54627835A>T | CA370980789 | RP1 | c.3953A>T (p.Lys1318Met) c.787+5547A>T (n.787+5547A>T) c.3974A>T (p.Lys1325Met) | |
| 8 | g.54627836G>A | CA461099532 | RP1 | c.3954G>A (p.Lys1318=) c.787+5548G>A (n.787+5548G>A) c.3975G>A (p.Lys1325=) | COSMIC |
| 8 | g.54627836G>C | CA370980790 | RP1 | c.3954G>C (p.Lys1318Asn) c.787+5548G>C (n.787+5548G>C) c.3975G>C (p.Lys1325Asn) | |
| 8 | g.54627836G>T | CA370980791 | RP1 | c.3954G>T (p.Lys1318Asn) c.787+5548G>T (n.787+5548G>T) c.3975G>T (p.Lys1325Asn) | |
| 8 | g.54627837G>A | CA370980793 | RP1 | c.3955G>A (p.Glu1319Lys) c.787+5549G>A (n.787+5549G>A) c.3976G>A (p.Glu1326Lys) | COSMIC |
| 8 | g.54627837G>C | CA370980794 | RP1 | c.3955G>C (p.Glu1319Gln) c.787+5549G>C (n.787+5549G>C) c.3976G>C (p.Glu1326Gln) | |
| 8 | g.54627837G>T | CA370980792 | RP1 | c.3955G>T (p.Glu1319Ter) c.787+5549G>T (n.787+5549G>T) c.3976G>T (p.Glu1326Ter) | |
| 8 | g.54627838A= | CA1785188909 | RP1 | c.3956A= (p.Glu1319=) c.787+5550A= (n.787+5550A=) c.3977A= (p.Glu1326=) | |
| 8 | g.54627838A>C | CA370980795 | RP1 | c.3956A>C (p.Glu1319Ala) c.787+5550A>C (n.787+5550A>C) c.3977A>C (p.Glu1326Ala) | |
| 8 | g.54627838A>G | CA4751777 | RP1 | c.3956A>G (p.Glu1319Gly) c.787+5550A>G (n.787+5550A>G) c.3977A>G (p.Glu1326Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627838A>T | CA370980796 | RP1 | c.3956A>T (p.Glu1319Val) c.787+5550A>T (n.787+5550A>T) c.3977A>T (p.Glu1326Val) | |
| 8 | g.54627839G>A | CA461099536 | RP1 | c.3957G>A (p.Glu1319=) c.787+5551G>A (n.787+5551G>A) c.3978G>A (p.Glu1326=) | dbSNP |
| 8 | g.54627839G>C | CA370980797 | RP1 | c.3957G>C (p.Glu1319Asp) c.787+5551G>C (n.787+5551G>C) c.3978G>C (p.Glu1326Asp) | |
| 8 | g.54627839G= | CA1785188910 | RP1 | c.3957G= (p.Glu1319=) c.787+5551G= (n.787+5551G=) c.3978G= (p.Glu1326=) | |
| 8 | g.54627839G>T | CA370980798 | RP1 | c.3957G>T (p.Glu1319Asp) c.787+5551G>T (n.787+5551G>T) c.3978G>T (p.Glu1326Asp) | |
| 8 | g.54627840A>C | CA370980799 | RP1 | c.3958A>C (p.Asn1320His) c.787+5552A>C (n.787+5552A>C) c.3979A>C (p.Asn1327His) | |
| 8 | g.54627840A>G | CA370980800 | RP1 | c.3958A>G (p.Asn1320Asp) c.787+5552A>G (n.787+5552A>G) c.3979A>G (p.Asn1327Asp) | gnomAD v4 |
| 8 | g.54627840A>T | CA370980801 | RP1 | c.3958A>T (p.Asn1320Tyr) c.787+5552A>T (n.787+5552A>T) c.3979A>T (p.Asn1327Tyr) | |
| 8 | g.54627841A= | CA1785188911 | RP1 | c.3959A= (p.Asn1320=) c.787+5553A= (n.787+5553A=) c.3980A= (p.Asn1327=) | |
| 8 | g.54627841A>C | CA370980802 | RP1 | c.3959A>C (p.Asn1320Thr) c.787+5553A>C (n.787+5553A>C) c.3980A>C (p.Asn1327Thr) | |
| 8 | g.54627841A>G | CA370980803 | RP1 | c.3959A>G (p.Asn1320Ser) c.787+5553A>G (n.787+5553A>G) c.3980A>G (p.Asn1327Ser) | |
| 8 | g.54627841A>T | CA370980804 | RP1 | c.3959A>T (p.Asn1320Ile) c.787+5553A>T (n.787+5553A>T) c.3980A>T (p.Asn1327Ile) | dbSNP |
| 8 | g.54627842C>A | CA370980805 | RP1 | c.3960C>A (p.Asn1320Lys) c.787+5554C>A (n.787+5554C>A) c.3981C>A (p.Asn1327Lys) | |
| 8 | g.54627842C= | CA1785188912 | RP1 | c.3960C= (p.Asn1320=) c.787+5554C= (n.787+5554C=) c.3981C= (p.Asn1327=) | |
| 8 | g.54627842C>G | CA370980806 | RP1 | c.3960C>G (p.Asn1320Lys) c.787+5554C>G (n.787+5554C>G) c.3981C>G (p.Asn1327Lys) | |
| 8 | g.54627842C>T | CA461099546 | RP1 | c.3960C>T (p.Asn1320=) c.787+5554C>T (n.787+5554C>T) c.3981C>T (p.Asn1327=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54627843C>A | CA370980807 | RP1 | c.3961C>A (p.His1321Asn) c.787+5555C>A (n.787+5555C>A) c.3982C>A (p.His1328Asn) | |
| 8 | g.54627843C>G | CA370980809 | RP1 | c.3961C>G (p.His1321Asp) c.787+5555C>G (n.787+5555C>G) c.3982C>G (p.His1328Asp) | |
| 8 | g.54627843C>T | CA370980808 | RP1 | c.3961C>T (p.His1321Tyr) c.787+5555C>T (n.787+5555C>T) c.3982C>T (p.His1328Tyr) | |
| 8 | g.54627844A>C | CA370980810 | RP1 | c.3962A>C (p.His1321Pro) c.787+5556A>C (n.787+5556A>C) c.3983A>C (p.His1328Pro) | |
| 8 | g.54627844A>G | CA370980811 | RP1 | c.3962A>G (p.His1321Arg) c.787+5556A>G (n.787+5556A>G) c.3983A>G (p.His1328Arg) | |
| 8 | g.54627844A>T | CA370980812 | RP1 | c.3962A>T (p.His1321Leu) c.787+5556A>T (n.787+5556A>T) c.3983A>T (p.His1328Leu) | |
| 8 | g.54627845T>A | CA370980813 | RP1 | c.3963T>A (p.His1321Gln) c.787+5557T>A (n.787+5557T>A) c.3984T>A (p.His1328Gln) | |
| 8 | g.54627845T>C | CA4751778 | RP1 | c.3963T>C (p.His1321=) c.787+5557T>C (n.787+5557T>C) c.3984T>C (p.His1328=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54627845T>G | CA370980814 | RP1 | c.3963T>G (p.His1321Gln) c.787+5557T>G (n.787+5557T>G) c.3984T>G (p.His1328Gln) | |
| 8 | g.54627845T= | CA1785188913 | RP1 | c.3963T= (p.His1321=) c.787+5557T= (n.787+5557T=) c.3984T= (p.His1328=) | |
| 8 | g.54627846A>C | CA370980815 | RP1 | c.3964A>C (p.Thr1322Pro) c.787+5558A>C (n.787+5558A>C) c.3985A>C (p.Thr1329Pro) | |
| 8 | g.54627846A>G | CA370980816 | RP1 | c.3964A>G (p.Thr1322Ala) c.787+5558A>G (n.787+5558A>G) c.3985A>G (p.Thr1329Ala) | COSMIC |
| 8 | g.54627846A>T | CA370980817 | RP1 | c.3964A>T (p.Thr1322Ser) c.787+5558A>T (n.787+5558A>T) c.3985A>T (p.Thr1329Ser) | |
| 8 | g.54627847C>A | CA370980819 | RP1 | c.3965C>A (p.Thr1322Asn) c.787+5559C>A (n.787+5559C>A) c.3986C>A (p.Thr1329Asn) | |
| 8 | g.54627847C= | CA1785188914 | RP1 | c.3965C= (p.Thr1322=) c.787+5559C= (n.787+5559C=) c.3986C= (p.Thr1329=) | |
| 8 | g.54627847C>G | CA4751779 | RP1 | c.3965C>G (p.Thr1322Ser) c.787+5559C>G (n.787+5559C>G) c.3986C>G (p.Thr1329Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54627847C>T | CA370980818 | RP1 | c.3965C>T (p.Thr1322Ile) c.787+5559C>T (n.787+5559C>T) c.3986C>T (p.Thr1329Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54627848C>A | CA461099559 | RP1 | c.3966C>A (p.Thr1322=) c.787+5560C>A (n.787+5560C>A) c.3987C>A (p.Thr1329=) | |
| 8 | g.54627848C= | CA1785188915 | RP1 | c.3966C= (p.Thr1322=) c.787+5560C= (n.787+5560C=) c.3987C= (p.Thr1329=) | |
| 8 | g.54627848C>G | CA461099560 | RP1 | c.3966C>G (p.Thr1322=) c.787+5560C>G (n.787+5560C>G) c.3987C>G (p.Thr1329=) | |
| 8 | g.54627848C>T | CA4751780 | RP1 | c.3966C>T (p.Thr1322=) c.787+5560C>T (n.787+5560C>T) c.3987C>T (p.Thr1329=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627849T>A | CA370980820 | RP1 | c.3967T>A (p.Tyr1323Asn) c.787+5561T>A (n.787+5561T>A) c.3988T>A (p.Tyr1330Asn) | gnomAD v4 |
| 8 | g.54627849T>C | CA370980821 | RP1 | c.3967T>C (p.Tyr1323His) c.787+5561T>C (n.787+5561T>C) c.3988T>C (p.Tyr1330His) | |
| 8 | g.54627849T>G | CA370980822 | RP1 | c.3967T>G (p.Tyr1323Asp) c.787+5561T>G (n.787+5561T>G) c.3988T>G (p.Tyr1330Asp) | gnomAD v4 |
| 8 | g.54627850A= | CA1785188916 | RP1 | c.3968A= (p.Tyr1323=) c.787+5562A= (n.787+5562A=) c.3989A= (p.Tyr1330=) | |
| 8 | g.54627850A>C | CA370980823 | RP1 | c.3968A>C (p.Tyr1323Ser) c.787+5562A>C (n.787+5562A>C) c.3989A>C (p.Tyr1330Ser) | |
| 8 | g.54627850A>G | CA4751781 | RP1 | c.3968A>G (p.Tyr1323Cys) c.787+5562A>G (n.787+5562A>G) c.3989A>G (p.Tyr1330Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54627850A>T | CA370980824 | RP1 | c.3968A>T (p.Tyr1323Phe) c.787+5562A>T (n.787+5562A>T) c.3989A>T (p.Tyr1330Phe) | |
| 8 | g.54627851T>A | CA370980825 | RP1 | c.3969T>A (p.Tyr1323Ter) c.787+5563T>A (n.787+5563T>A) c.3990T>A (p.Tyr1330Ter) | |
| 8 | g.54627851T>C | CA461099568 | RP1 | c.3969T>C (p.Tyr1323=) c.787+5563T>C (n.787+5563T>C) c.3990T>C (p.Tyr1330=) | gnomAD v4 |
| 8 | g.54627851T>G | CA370980826 | RP1 | c.3969T>G (p.Tyr1323Ter) c.787+5563T>G (n.787+5563T>G) c.3990T>G (p.Tyr1330Ter) | |
| 8 | g.54627852G>A | CA370980827 | RP1 | c.3970G>A (p.Glu1324Lys) c.787+5564G>A (n.787+5564G>A) c.3991G>A (p.Glu1331Lys) | gnomAD v4 COSMIC |
| 8 | g.54627852G>C | CA370980828 | RP1 | c.3970G>C (p.Glu1324Gln) c.787+5564G>C (n.787+5564G>C) c.3991G>C (p.Glu1331Gln) | |
| 8 | g.54627852G>T | CA370980829 | RP1 | c.3970G>T (p.Glu1324Ter) c.787+5564G>T (n.787+5564G>T) c.3991G>T (p.Glu1331Ter) | |
| 8 | g.54627853A= | CA1785188917 | RP1 | c.3971A= (p.Glu1324=) c.787+5565A= (n.787+5565A=) c.3992A= (p.Glu1331=) | |
| 8 | g.54627853A>C | CA370980830 | RP1 | c.3971A>C (p.Glu1324Ala) c.787+5565A>C (n.787+5565A>C) c.3992A>C (p.Glu1331Ala) | gnomAD v4 |
| 8 | g.54627853A>G | CA370980831 | RP1 | c.3971A>G (p.Glu1324Gly) c.787+5565A>G (n.787+5565A>G) c.3992A>G (p.Glu1331Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627853A>T | CA4751782 | RP1 | c.3971A>T (p.Glu1324Val) c.787+5565A>T (n.787+5565A>T) c.3992A>T (p.Glu1331Val) | dbSNP ExAC gnomAD v4 |
| 8 | g.54627854G>A | CA461099574 | RP1 | c.3972G>A (p.Glu1324=) c.787+5566G>A (n.787+5566G>A) c.3993G>A (p.Glu1331=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54627854G>C | CA370980832 | RP1 | c.3972G>C (p.Glu1324Asp) c.787+5566G>C (n.787+5566G>C) c.3993G>C (p.Glu1331Asp) | |
| 8 | g.54627854G>T | CA370980833 | RP1 | c.3972G>T (p.Glu1324Asp) c.787+5566G>T (n.787+5566G>T) c.3993G>T (p.Glu1331Asp) | |
| 8 | g.54627855G>A | CA370980834 | RP1 | c.3973G>A (p.Gly1325Arg) c.787+5567G>A (n.787+5567G>A) c.3994G>A (p.Gly1332Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.54627855G>C | CA370980835 | RP1 | c.3973G>C (p.Gly1325Arg) c.787+5567G>C (n.787+5567G>C) c.3994G>C (p.Gly1332Arg) | |
| 8 | g.54627855G= | CA1785188918 | RP1 | c.3973G= (p.Gly1325=) c.787+5567G= (n.787+5567G=) c.3994G= (p.Gly1332=) | |
| 8 | g.54627855G>T | CA370980836 | RP1 | c.3973G>T (p.Gly1325Ter) c.787+5567G>T (n.787+5567G>T) c.3994G>T (p.Gly1332Ter) | |
| 8 | g.54627856G>A | CA370980837 | RP1 | c.3974G>A (p.Gly1325Glu) c.787+5568G>A (n.787+5568G>A) c.3995G>A (p.Gly1332Glu) | dbSNP COSMIC |
| 8 | g.54627856G>C | CA370980838 | RP1 | c.3974G>C (p.Gly1325Ala) c.787+5568G>C (n.787+5568G>C) c.3995G>C (p.Gly1332Ala) | |
| 8 | g.54627856G= | CA1785188919 | RP1 | c.3974G= (p.Gly1325=) c.787+5568G= (n.787+5568G=) c.3995G= (p.Gly1332=) | |
| 8 | g.54627856G>T | CA370980839 | RP1 | c.3974G>T (p.Gly1325Val) c.787+5568G>T (n.787+5568G>T) c.3995G>T (p.Gly1332Val) | dbSNP |
| 8 | g.54627857A>C | CA461099578 | RP1 | c.3975A>C (p.Gly1325=) c.787+5569A>C (n.787+5569A>C) c.3996A>C (p.Gly1332=) | |
| 8 | g.54627857A>G | CA461099580 | RP1 | c.3975A>G (p.Gly1325=) c.787+5569A>G (n.787+5569A>G) c.3996A>G (p.Gly1332=) | |
| 8 | g.54627857A>T | CA461099579 | RP1 | c.3975A>T (p.Gly1325=) c.787+5569A>T (n.787+5569A>T) c.3996A>T (p.Gly1332=) | |
| 8 | g.54627858G>A | CA370980840 | RP1 | c.3976G>A (p.Ala1326Thr) c.787+5570G>A (n.787+5570G>A) c.3997G>A (p.Ala1333Thr) | gnomAD v4 |
| 8 | g.54627858G>C | CA4751783 | RP1 | c.3976G>C (p.Ala1326Pro) c.787+5570G>C (n.787+5570G>C) c.3997G>C (p.Ala1333Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627858G= | CA1785188920 | RP1 | c.3976G= (p.Ala1326=) c.787+5570G= (n.787+5570G=) c.3997G= (p.Ala1333=) | |
| 8 | g.54627858G>T | CA370980841 | RP1 | c.3976G>T (p.Ala1326Ser) c.787+5570G>T (n.787+5570G>T) c.3997G>T (p.Ala1333Ser) | |
| 8 | g.54627859C>A | CA370980842 | RP1 | c.3977C>A (p.Ala1326Asp) c.787+5571C>A (n.787+5571C>A) c.3998C>A (p.Ala1333Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54627859C= | CA1785188921 | RP1 | c.3977C= (p.Ala1326=) c.787+5571C= (n.787+5571C=) c.3998C= (p.Ala1333=) | |
| 8 | g.54627859C>G | CA370980843 | RP1 | c.3977C>G (p.Ala1326Gly) c.787+5571C>G (n.787+5571C>G) c.3998C>G (p.Ala1333Gly) | |
| 8 | g.54627859C>T | CA370980844 | RP1 | c.3977C>T (p.Ala1326Val) c.787+5571C>T (n.787+5571C>T) c.3998C>T (p.Ala1333Val) | |
| 8 | g.54627860T>A | CA461099590 | RP1 | c.3978T>A (p.Ala1326=) c.787+5572T>A (n.787+5572T>A) c.3999T>A (p.Ala1333=) | |
| 8 | g.54627860T>C | CA461099591 | RP1 | c.3978T>C (p.Ala1326=) c.787+5572T>C (n.787+5572T>C) c.3999T>C (p.Ala1333=) | COSMIC |
| 8 | g.54627860T>G | CA461099592 | RP1 | c.3978T>G (p.Ala1326=) c.787+5572T>G (n.787+5572T>G) c.3999T>G (p.Ala1333=) | |
| 8 | g.54627861T>A | CA370980845 | RP1 | c.3979T>A (p.Cys1327Ser) c.787+5573T>A (n.787+5573T>A) c.4000T>A (p.Cys1334Ser) | |
| 8 | g.54627861T>C | CA370980847 | RP1 | c.3979T>C (p.Cys1327Arg) c.787+5573T>C (n.787+5573T>C) c.4000T>C (p.Cys1334Arg) | |
| 8 | g.54627861T>G | CA370980846 | RP1 | c.3979T>G (p.Cys1327Gly) c.787+5573T>G (n.787+5573T>G) c.4000T>G (p.Cys1334Gly) | |
| 8 | g.54627862G>A | CA370980848 | RP1 | c.3980G>A (p.Cys1327Tyr) c.787+5574G>A (n.787+5574G>A) c.4001G>A (p.Cys1334Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54627862G>C | CA370980849 | RP1 | c.3980G>C (p.Cys1327Ser) c.787+5574G>C (n.787+5574G>C) c.4001G>C (p.Cys1334Ser) | |
| 8 | g.54627862G= | CA1785188922 | RP1 | c.3980G= (p.Cys1327=) c.787+5574G= (n.787+5574G=) c.4001G= (p.Cys1334=) | |
| 8 | g.54627862G>T | CA370980850 | RP1 | c.3980G>T (p.Cys1327Phe) c.787+5574G>T (n.787+5574G>T) c.4001G>T (p.Cys1334Phe) | |
| 8 | g.54627863C>A | CA370980851 | RP1 | c.3981C>A (p.Cys1327Ter) c.787+5575C>A (n.787+5575C>A) c.4002C>A (p.Cys1334Ter) | |
| 8 | g.54627863C>G | CA370980852 | RP1 | c.3981C>G (p.Cys1327Trp) c.787+5575C>G (n.787+5575C>G) c.4002C>G (p.Cys1334Trp) | |
| 8 | g.54627863C>T | CA461099601 | RP1 | c.3981C>T (p.Cys1327=) c.787+5575C>T (n.787+5575C>T) c.4002C>T (p.Cys1334=) | |
| 8 | g.54627864C>A | CA370980853 | RP1 | c.3982C>A (p.Pro1328Thr) c.787+5576C>A (n.787+5576C>A) c.4003C>A (p.Pro1335Thr) | |
| 8 | g.54627864C>G | CA370980854 | RP1 | c.3982C>G (p.Pro1328Ala) c.787+5576C>G (n.787+5576C>G) c.4003C>G (p.Pro1335Ala) | gnomAD v4 |
| 8 | g.54627864C>T | CA370980855 | RP1 | c.3982C>T (p.Pro1328Ser) c.787+5576C>T (n.787+5576C>T) c.4003C>T (p.Pro1335Ser) | gnomAD v4 |
| 8 | g.54627865C>A | CA370980856 | RP1 | c.3983C>A (p.Pro1328Gln) c.787+5577C>A (n.787+5577C>A) c.4004C>A (p.Pro1335Gln) | COSMIC |
| 8 | g.54627865C= | CA1785188923 | RP1 | c.3983C= (p.Pro1328=) c.787+5577C= (n.787+5577C=) c.4004C= (p.Pro1335=) | |
| 8 | g.54627865C>G | CA370980857 | RP1 | c.3983C>G (p.Pro1328Arg) c.787+5577C>G (n.787+5577C>G) c.4004C>G (p.Pro1335Arg) | |
| 8 | g.54627865C>T | CA370980858 | RP1 | c.3983C>T (p.Pro1328Leu) c.787+5577C>T (n.787+5577C>T) c.4004C>T (p.Pro1335Leu) | dbSNP |
| 8 | g.54627866A= | CA1785188924 | RP1 | c.3984A= (p.Pro1328=) c.787+5578A= (n.787+5578A=) c.4005A= (p.Pro1335=) | |
| 8 | g.54627866A>C | CA461099604 | RP1 | c.3984A>C (p.Pro1328=) c.787+5578A>C (n.787+5578A>C) c.4005A>C (p.Pro1335=) | dbSNP |
| 8 | g.54627866A>G | CA461099605 | RP1 | c.3984A>G (p.Pro1328=) c.787+5578A>G (n.787+5578A>G) c.4005A>G (p.Pro1335=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54627866A>T | CA461099606 | RP1 | c.3984A>T (p.Pro1328=) c.787+5578A>T (n.787+5578A>T) c.4005A>T (p.Pro1335=) | |
| 8 | g.54627867A= | CA1785188925 | RP1 | c.3985A= (p.Ile1329=) c.787+5579A= (n.787+5579A=) c.4006A= (p.Ile1336=) | |
| 8 | g.54627867A>C | CA370980861 | RP1 | c.3985A>C (p.Ile1329Leu) c.787+5579A>C (n.787+5579A>C) c.4006A>C (p.Ile1336Leu) | |
| 8 | g.54627867A>G | CA370980860 | RP1 | c.3985A>G (p.Ile1329Val) c.787+5579A>G (n.787+5579A>G) c.4006A>G (p.Ile1336Val) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.54627867A>T | CA370980859 | RP1 | c.3985A>T (p.Ile1329Phe) c.787+5579A>T (n.787+5579A>T) c.4006A>T (p.Ile1336Phe) | |
| 8 | g.54627868T>A | CA370980862 | RP1 | c.3986T>A (p.Ile1329Asn) c.787+5580T>A (n.787+5580T>A) c.4007T>A (p.Ile1336Asn) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54627868T>C | CA370980863 | RP1 | c.3986T>C (p.Ile1329Thr) c.787+5580T>C (n.787+5580T>C) c.4007T>C (p.Ile1336Thr) | |
| 8 | g.54627868T>G | CA370980864 | RP1 | c.3986T>G (p.Ile1329Ser) c.787+5580T>G (n.787+5580T>G) c.4007T>G (p.Ile1336Ser) | |
| 8 | g.54627868T= | CA1785188926 | RP1 | c.3986T= (p.Ile1329=) c.787+5580T= (n.787+5580T=) c.4007T= (p.Ile1336=) | |
| 8 | g.54627869T>A | CA461099613 | RP1 | c.3987T>A (p.Ile1329=) c.787+5581T>A (n.787+5581T>A) c.4008T>A (p.Ile1336=) | |
| 8 | g.54627869T>C | CA461099614 | RP1 | c.3987T>C (p.Ile1329=) c.787+5581T>C (n.787+5581T>C) c.4008T>C (p.Ile1336=) | |
| 8 | g.54627869T>G | CA370980865 | RP1 | c.3987T>G (p.Ile1329Met) c.787+5581T>G (n.787+5581T>G) c.4008T>G (p.Ile1336Met) | |
| 8 | g.54627870G>A | CA4751784 | RP1 | c.3988G>A (p.Asp1330Asn) c.787+5582G>A (n.787+5582G>A) c.4009G>A (p.Asp1337Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.54627870G>C | CA370980867 | RP1 | c.3988G>C (p.Asp1330His) c.787+5582G>C (n.787+5582G>C) c.4009G>C (p.Asp1337His) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54627870G= | CA1785188927 | RP1 | c.3988G= (p.Asp1330=) c.787+5582G= (n.787+5582G=) c.4009G= (p.Asp1337=) | |
| 8 | g.54627870G>T | CA370980869 | RP1 | c.3988G>T (p.Asp1330Tyr) c.787+5582G>T (n.787+5582G>T) c.4009G>T (p.Asp1337Tyr) | |
| 8 | g.54627871A>C | CA370980872 | RP1 | c.3989A>C (p.Asp1330Ala) c.787+5583A>C (n.787+5583A>C) c.4010A>C (p.Asp1337Ala) | |
| 8 | g.54627871A>G | CA370980873 | RP1 | c.3989A>G (p.Asp1330Gly) c.787+5583A>G (n.787+5583A>G) c.4010A>G (p.Asp1337Gly) | |
| 8 | g.54627871A>T | CA370980875 | RP1 | c.3989A>T (p.Asp1330Val) c.787+5583A>T (n.787+5583A>T) c.4010A>T (p.Asp1337Val) | |
| 8 | g.54627872T>A | CA370980878 | RP1 | c.3990T>A (p.Asp1330Glu) c.787+5584T>A (n.787+5584T>A) c.4011T>A (p.Asp1337Glu) | gnomAD v4 |
| 8 | g.54627872T>C | CA461099619 | RP1 | c.3990T>C (p.Asp1330=) c.787+5584T>C (n.787+5584T>C) c.4011T>C (p.Asp1337=) | |
| 8 | g.54627872T>G | CA370980880 | RP1 | c.3990T>G (p.Asp1330Glu) c.787+5584T>G (n.787+5584T>G) c.4011T>G (p.Asp1337Glu) | |
| 8 | g.54627873G>A | CA177181003 | RP1 | c.3991G>A (p.Glu1331Lys) c.787+5585G>A (n.787+5585G>A) c.4012G>A (p.Glu1338Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54627873G>C | CA370980885 | RP1 | c.3991G>C (p.Glu1331Gln) c.787+5585G>C (n.787+5585G>C) c.4012G>C (p.Glu1338Gln) | |
| 8 | g.54627873G= | CA1785188928 | RP1 | c.3991G= (p.Glu1331=) c.787+5585G= (n.787+5585G=) c.4012G= (p.Glu1338=) | |
| 8 | g.54627873G>T | CA370980882 | RP1 | c.3991G>T (p.Glu1331Ter) c.787+5585G>T (n.787+5585G>T) c.4012G>T (p.Glu1338Ter) | |
| 8 | g.54627874A>C | CA370980892 | RP1 | c.3992A>C (p.Glu1331Ala) c.787+5586A>C (n.787+5586A>C) c.4013A>C (p.Glu1338Ala) | |
| 8 | g.54627874A>G | CA370980888 | RP1 | c.3992A>G (p.Glu1331Gly) c.787+5586A>G (n.787+5586A>G) c.4013A>G (p.Glu1338Gly) | |
| 8 | g.54627874A>T | CA370980890 | RP1 | c.3992A>T (p.Glu1331Val) c.787+5586A>T (n.787+5586A>T) c.4013A>T (p.Glu1338Val) | COSMIC |
| 8 | g.54627875G>A | CA461099622 | RP1 | c.3993G>A (p.Glu1331=) c.787+5587G>A (n.787+5587G>A) c.4014G>A (p.Glu1338=) | |
| 8 | g.54627875G>C | CA370980895 | RP1 | c.3993G>C (p.Glu1331Asp) c.787+5587G>C (n.787+5587G>C) c.4014G>C (p.Glu1338Asp) | |
| 8 | g.54627875G>T | CA370980896 | RP1 | c.3993G>T (p.Glu1331Asp) c.787+5587G>T (n.787+5587G>T) c.4014G>T (p.Glu1338Asp) | |
| 8 | g.54627876A= | CA1785188929 | RP1 | c.3994A= (p.Thr1332=) c.787+5588A= (n.787+5588A=) c.4015A= (p.Thr1339=) | |
| 8 | g.54627876A>C | CA370980899 | RP1 | c.3994A>C (p.Thr1332Pro) c.787+5588A>C (n.787+5588A>C) c.4015A>C (p.Thr1339Pro) | |
| 8 | g.54627876A>G | CA370980901 | RP1 | c.3994A>G (p.Thr1332Ala) c.787+5588A>G (n.787+5588A>G) c.4015A>G (p.Thr1339Ala) | |
| 8 | g.54627876A>T | CA370980903 | RP1 | c.3994A>T (p.Thr1332Ser) c.787+5588A>T (n.787+5588A>T) c.4015A>T (p.Thr1339Ser) | dbSNP gnomAD v4 |
| 8 | g.54627877C>A | CA370980912 | RP1 | c.3995C>A (p.Thr1332Asn) c.787+5589C>A (n.787+5589C>A) c.4016C>A (p.Thr1339Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54627877C= | CA1785188930 | RP1 | c.3995C= (p.Thr1332=) c.787+5589C= (n.787+5589C=) c.4016C= (p.Thr1339=) | |
| 8 | g.54627877C>G | CA370980910 | RP1 | c.3995C>G (p.Thr1332Ser) c.787+5589C>G (n.787+5589C>G) c.4016C>G (p.Thr1339Ser) | |
| 8 | g.54627877C>T | CA4751785 | RP1 | c.3995C>T (p.Thr1332Ile) c.787+5589C>T (n.787+5589C>T) c.4016C>T (p.Thr1339Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54627877_54627878delinsTT | CA645560582 | RP1 | c.3995_3996delinsTT (p.Thr1332Ile) c.787+5589_787+5590delinsTT (n.787+5589_787+5590delinsTT) c.4016_4017delinsTT (p.Thr1339Ile) | COSMIC |
| 8 | g.54627878dup | CA177181005 | RP1 | c.3996dup (p.Tyr1333LeufsTer11) c.787+5590dup (n.787+5590dup) c.4017dup (p.Tyr1340LeufsTer11) | dbSNP gnomAD v4 |
| 8 | g.54627878C>A | CA461099630 | RP1 | c.3996C>A (p.Thr1332=) c.787+5590C>A (n.787+5590C>A) c.4017C>A (p.Thr1339=) | COSMIC |
| 8 | g.54627878C>G | CA461099631 | RP1 | c.3996C>G (p.Thr1332=) c.787+5590C>G (n.787+5590C>G) c.4017C>G (p.Thr1339=) | |
| 8 | g.54627878C>T | CA461099632 | RP1 | c.3996C>T (p.Thr1332=) c.787+5590C>T (n.787+5590C>T) c.4017C>T (p.Thr1339=) | gnomAD v4 |
| 8 | g.54627879T>A | CA370980915 | RP1 | c.3997T>A (p.Tyr1333Asn) c.787+5591T>A (n.787+5591T>A) c.4018T>A (p.Tyr1340Asn) | |
| 8 | g.54627879T>C | CA370980917 | RP1 | c.3997T>C (p.Tyr1333His) c.787+5591T>C (n.787+5591T>C) c.4018T>C (p.Tyr1340His) | |
| 8 | g.54627879T>G | CA370980918 | RP1 | c.3997T>G (p.Tyr1333Asp) c.787+5591T>G (n.787+5591T>G) c.4018T>G (p.Tyr1340Asp) | gnomAD v4 |