| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.54625833_54625849del | CA2780387002 | RP1 | c.1951_1967del (p.Gln651ThrfsTer5) c.787+3545_787+3561del (n.787+3545_787+3561del) c.1972_1988del (p.Gln658ThrfsTer5) | |
| 8 | g.54625838T>A | CA370992418 | RP1 | c.1956T>A (p.Cys652Ter) c.787+3550T>A (n.787+3550T>A) c.1977T>A (p.Cys659Ter) | |
| 8 | g.54625838T>C | CA461098634 | RP1 | c.1956T>C (p.Cys652=) c.787+3550T>C (n.787+3550T>C) c.1977T>C (p.Cys659=) | |
| 8 | g.54625838T>G | CA370992419 | RP1 | c.1956T>G (p.Cys652Trp) c.787+3550T>G (n.787+3550T>G) c.1977T>G (p.Cys659Trp) | |
| 8 | g.54625839G>A | CA4751452 | RP1 | c.1957G>A (p.Gly653Ser) c.787+3551G>A (n.787+3551G>A) c.1978G>A (p.Gly660Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625839G>C | CA370992420 | RP1 | c.1957G>C (p.Gly653Arg) c.787+3551G>C (n.787+3551G>C) c.1978G>C (p.Gly660Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54625839G= | CA1785188044 | RP1 | c.1957G= (p.Gly653=) c.787+3551G= (n.787+3551G=) c.1978G= (p.Gly660=) | |
| 8 | g.54625839G>T | CA370992421 | RP1 | c.1957G>T (p.Gly653Cys) c.787+3551G>T (n.787+3551G>T) c.1978G>T (p.Gly660Cys) | |
| 8 | g.54625840G>A | CA370992422 | RP1 | c.1958G>A (p.Gly653Asp) c.787+3552G>A (n.787+3552G>A) c.1979G>A (p.Gly660Asp) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54625840G>C | CA370992423 | RP1 | c.1958G>C (p.Gly653Ala) c.787+3552G>C (n.787+3552G>C) c.1979G>C (p.Gly660Ala) | |
| 8 | g.54625840G= | CA1785188045 | RP1 | c.1958G= (p.Gly653=) c.787+3552G= (n.787+3552G=) c.1979G= (p.Gly660=) | |
| 8 | g.54625840G>T | CA370992424 | RP1 | c.1958G>T (p.Gly653Val) c.787+3552G>T (n.787+3552G>T) c.1979G>T (p.Gly660Val) | |
| 8 | g.54625840_54625841delinsGT | CA1785188046 | RP1 | c.1958_1959delinsGT (p.Gly653=) c.787+3552_787+3553delinsGT (n.787+3552_787+3553delinsGT) c.1979_1980delinsGT (p.Gly660=) | |
| 8 | g.54625841T>A | CA461098638 | RP1 | c.1959T>A (p.Gly653=) c.787+3553T>A (n.787+3553T>A) c.1980T>A (p.Gly660=) | |
| 8 | g.54625841T>C | CA461098639 | RP1 | c.1959T>C (p.Gly653=) c.787+3553T>C (n.787+3553T>C) c.1980T>C (p.Gly660=) | |
| 8 | g.54625841T>G | CA461098640 | RP1 | c.1959T>G (p.Gly653=) c.787+3553T>G (n.787+3553T>G) c.1980T>G (p.Gly660=) | |
| 8 | g.54625843del | CA370992425 | RP1 | c.1961del (p.Leu654Ter) c.787+3555del (n.787+3555del) c.1982del (p.Leu661Ter) | ClinVar dbSNP |
| 8 | g.54625842T>A | CA370992426 | RP1 | c.1960T>A (p.Leu654Ile) c.787+3554T>A (n.787+3554T>A) c.1981T>A (p.Leu661Ile) | |
| 8 | g.54625842T>C | CA461098643 | RP1 | c.1960T>C (p.Leu654=) c.787+3554T>C (n.787+3554T>C) c.1981T>C (p.Leu661=) | |
| 8 | g.54625842T>G | CA370992427 | RP1 | c.1960T>G (p.Leu654Val) c.787+3554T>G (n.787+3554T>G) c.1981T>G (p.Leu661Val) | |
| 8 | g.54625843T>A | CA370992428 | RP1 | c.1961T>A (p.Leu654Ter) c.787+3555T>A (n.787+3555T>A) c.1982T>A (p.Leu661Ter) | |
| 8 | g.54625843T>C | CA370992429 | RP1 | c.1961T>C (p.Leu654Ser) c.787+3555T>C (n.787+3555T>C) c.1982T>C (p.Leu661Ser) | gnomAD v4 |
| 8 | g.54625843T>G | CA370992430 | RP1 | c.1961T>G (p.Leu654Ter) c.787+3555T>G (n.787+3555T>G) c.1982T>G (p.Leu661Ter) | |
| 8 | g.54625844A>C | CA370992432 | RP1 | c.1962A>C (p.Leu654Phe) c.787+3556A>C (n.787+3556A>C) c.1983A>C (p.Leu661Phe) | |
| 8 | g.54625844A>G | CA461098645 | RP1 | c.1962A>G (p.Leu654=) c.787+3556A>G (n.787+3556A>G) c.1983A>G (p.Leu661=) | gnomAD v4 |
| 8 | g.54625844A>T | CA370992431 | RP1 | c.1962A>T (p.Leu654Phe) c.787+3556A>T (n.787+3556A>T) c.1983A>T (p.Leu661Phe) | |
| 8 | g.54625845A>C | CA370992433 | RP1 | c.1963A>C (p.Thr655Pro) c.787+3557A>C (n.787+3557A>C) c.1984A>C (p.Thr662Pro) | |
| 8 | g.54625845A>G | CA370992434 | RP1 | c.1963A>G (p.Thr655Ala) c.787+3557A>G (n.787+3557A>G) c.1984A>G (p.Thr662Ala) | |
| 8 | g.54625845A>T | CA370992435 | RP1 | c.1963A>T (p.Thr655Ser) c.787+3557A>T (n.787+3557A>T) c.1984A>T (p.Thr662Ser) | |
| 8 | g.54625846C>A | CA370992436 | RP1 | c.1964C>A (p.Thr655Lys) c.787+3558C>A (n.787+3558C>A) c.1985C>A (p.Thr662Lys) | |
| 8 | g.54625846C= | CA1785188047 | RP1 | c.1964C= (p.Thr655=) c.787+3558C= (n.787+3558C=) c.1985C= (p.Thr662=) | |
| 8 | g.54625846C>G | CA370992437 | RP1 | c.1964C>G (p.Thr655Arg) c.787+3558C>G (n.787+3558C>G) c.1985C>G (p.Thr662Arg) | |
| 8 | g.54625846C>T | CA4751453 | RP1 | c.1964C>T (p.Thr655Ile) c.787+3558C>T (n.787+3558C>T) c.1985C>T (p.Thr662Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625847A= | CA1785188048 | RP1 | c.1965A= (p.Thr655=) c.787+3559A= (n.787+3559A=) c.1986A= (p.Thr662=) | |
| 8 | g.54625847A>C | CA461098647 | RP1 | c.1965A>C (p.Thr655=) c.787+3559A>C (n.787+3559A>C) c.1986A>C (p.Thr662=) | |
| 8 | g.54625847A>G | CA4751454 | RP1 | c.1965A>G (p.Thr655=) c.787+3559A>G (n.787+3559A>G) c.1986A>G (p.Thr662=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54625847A>T | CA461098648 | RP1 | c.1965A>T (p.Thr655=) c.787+3559A>T (n.787+3559A>T) c.1986A>T (p.Thr662=) | |
| 8 | g.54625848A>C | CA370992438 | RP1 | c.1966A>C (p.Lys656Gln) c.787+3560A>C (n.787+3560A>C) c.1987A>C (p.Lys663Gln) | gnomAD v4 |
| 8 | g.54625848A>G | CA370992439 | RP1 | c.1966A>G (p.Lys656Glu) c.787+3560A>G (n.787+3560A>G) c.1987A>G (p.Lys663Glu) | |
| 8 | g.54625848A>T | CA370992440 | RP1 | c.1966A>T (p.Lys656Ter) c.787+3560A>T (n.787+3560A>T) c.1987A>T (p.Lys663Ter) | |
| 8 | g.54625849A>C | CA370992441 | RP1 | c.1967A>C (p.Lys656Thr) c.787+3561A>C (n.787+3561A>C) c.1988A>C (p.Lys663Thr) | |
| 8 | g.54625849A>G | CA370992442 | RP1 | c.1967A>G (p.Lys656Arg) c.787+3561A>G (n.787+3561A>G) c.1988A>G (p.Lys663Arg) | gnomAD v4 |
| 8 | g.54625849A>T | CA370992443 | RP1 | c.1967A>T (p.Lys656Ile) c.787+3561A>T (n.787+3561A>T) c.1988A>T (p.Lys663Ile) | |
| 8 | g.54625850A>C | CA370992444 | RP1 | c.1968A>C (p.Lys656Asn) c.787+3562A>C (n.787+3562A>C) c.1989A>C (p.Lys663Asn) | |
| 8 | g.54625850A>G | CA461098651 | RP1 | c.1968A>G (p.Lys656=) c.787+3562A>G (n.787+3562A>G) c.1989A>G (p.Lys663=) | |
| 8 | g.54625850A>T | CA370992445 | RP1 | c.1968A>T (p.Lys656Asn) c.787+3562A>T (n.787+3562A>T) c.1989A>T (p.Lys663Asn) | |
| 8 | g.54625851C>A | CA4751455 | RP1 | c.1969C>A (p.Leu657Ile) c.787+3563C>A (n.787+3563C>A) c.1990C>A (p.Leu664Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54625851C= | CA1785188049 | RP1 | c.1969C= (p.Leu657=) c.787+3563C= (n.787+3563C=) c.1990C= (p.Leu664=) | |
| 8 | g.54625851C>G | CA370992446 | RP1 | c.1969C>G (p.Leu657Val) c.787+3563C>G (n.787+3563C>G) c.1990C>G (p.Leu664Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54625851C>T | CA370992447 | RP1 | c.1969C>T (p.Leu657Phe) c.787+3563C>T (n.787+3563C>T) c.1990C>T (p.Leu664Phe) | |
| 8 | g.54625852T>A | CA370992448 | RP1 | c.1970T>A (p.Leu657His) c.787+3564T>A (n.787+3564T>A) c.1991T>A (p.Leu664His) | |
| 8 | g.54625852T>C | CA370992449 | RP1 | c.1970T>C (p.Leu657Pro) c.787+3564T>C (n.787+3564T>C) c.1991T>C (p.Leu664Pro) | dbSNP |
| 8 | g.54625852T>G | CA370992450 | RP1 | c.1970T>G (p.Leu657Arg) c.787+3564T>G (n.787+3564T>G) c.1991T>G (p.Leu664Arg) | COSMIC |
| 8 | g.54625852T= | CA1785188050 | RP1 | c.1970T= (p.Leu657=) c.787+3564T= (n.787+3564T=) c.1991T= (p.Leu664=) | |
| 8 | g.54625853T>A | CA461098655 | RP1 | c.1971T>A (p.Leu657=) c.787+3565T>A (n.787+3565T>A) c.1992T>A (p.Leu664=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54625853T>C | CA461098657 | RP1 | c.1971T>C (p.Leu657=) c.787+3565T>C (n.787+3565T>C) c.1992T>C (p.Leu664=) | |
| 8 | g.54625853T>G | CA461098658 | RP1 | c.1971T>G (p.Leu657=) c.787+3565T>G (n.787+3565T>G) c.1992T>G (p.Leu664=) | |
| 8 | g.54625853T= | CA1785188051 | RP1 | c.1971T= (p.Leu657=) c.787+3565T= (n.787+3565T=) c.1992T= (p.Leu664=) | |
| 8 | g.54625854C>A | CA370992451 | RP1 | c.1972C>A (p.Pro658Thr) c.787+3566C>A (n.787+3566C>A) c.1993C>A (p.Pro665Thr) | |
| 8 | g.54625854C= | CA1785188052 | RP1 | c.1972C= (p.Pro658=) c.787+3566C= (n.787+3566C=) c.1993C= (p.Pro665=) | |
| 8 | g.54625854C>G | CA370992452 | RP1 | c.1972C>G (p.Pro658Ala) c.787+3566C>G (n.787+3566C>G) c.1993C>G (p.Pro665Ala) | gnomAD v4 |
| 8 | g.54625854C>T | CA370992453 | RP1 | c.1972C>T (p.Pro658Ser) c.787+3566C>T (n.787+3566C>T) c.1993C>T (p.Pro665Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.54625855C>A | CA370992454 | RP1 | c.1973C>A (p.Pro658Gln) c.787+3567C>A (n.787+3567C>A) c.1994C>A (p.Pro665Gln) | |
| 8 | g.54625855C>G | CA370992455 | RP1 | c.1973C>G (p.Pro658Arg) c.787+3567C>G (n.787+3567C>G) c.1994C>G (p.Pro665Arg) | |
| 8 | g.54625855C>T | CA370992456 | RP1 | c.1973C>T (p.Pro658Leu) c.787+3567C>T (n.787+3567C>T) c.1994C>T (p.Pro665Leu) | |
| 8 | g.54625855_54625856delinsCA | CA1785188053 | RP1 | c.1973_1974delinsCA (p.Pro658=) c.787+3567_787+3568delinsCA (n.787+3567_787+3568delinsCA) c.1994_1995delinsCA (p.Pro665=) | |
| 8 | g.54625856A>C | CA461098665 | RP1 | c.1974A>C (p.Pro658=) c.787+3568A>C (n.787+3568A>C) c.1995A>C (p.Pro665=) | |
| 8 | g.54625856A>G | CA461098664 | RP1 | c.1974A>G (p.Pro658=) c.787+3568A>G (n.787+3568A>G) c.1995A>G (p.Pro665=) | ClinVar gnomAD v4 |
| 8 | g.54625856A>T | CA461098663 | RP1 | c.1974A>T (p.Pro658=) c.787+3568A>T (n.787+3568A>T) c.1995A>T (p.Pro665=) | |
| 8 | g.54625861dup | CA2695209260 | RP1 | c.1979dup (p.Asn660LysfsTer2) c.787+3573dup (n.787+3573dup) c.2000dup (p.Asn667LysfsTer2) | |
| 8 | g.54625861del | CA582205351 | RP1 | c.1979del (p.Asn660MetfsTer22) c.787+3573del (n.787+3573del) c.2000del (p.Asn667MetfsTer22) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54625857A= | CA1785188054 | RP1 | c.1975A= (p.Lys659=) c.787+3569A= (n.787+3569A=) c.1996A= (p.Lys666=) | |
| 8 | g.54625857A>C | CA370992459 | RP1 | c.1975A>C (p.Lys659Gln) c.787+3569A>C (n.787+3569A>C) c.1996A>C (p.Lys666Gln) | |
| 8 | g.54625857A>G | CA370992458 | RP1 | c.1975A>G (p.Lys659Glu) c.787+3569A>G (n.787+3569A>G) c.1996A>G (p.Lys666Glu) | dbSNP |
| 8 | g.54625857A>T | CA370992457 | RP1 | c.1975A>T (p.Lys659Ter) c.787+3569A>T (n.787+3569A>T) c.1996A>T (p.Lys666Ter) | ClinVar dbSNP |
| 8 | g.54625858A>C | CA370992460 | RP1 | c.1976A>C (p.Lys659Thr) c.787+3570A>C (n.787+3570A>C) c.1997A>C (p.Lys666Thr) | |
| 8 | g.54625858A>G | CA370992461 | RP1 | c.1976A>G (p.Lys659Arg) c.787+3570A>G (n.787+3570A>G) c.1997A>G (p.Lys666Arg) | |
| 8 | g.54625858A>T | CA370992462 | RP1 | c.1976A>T (p.Lys659Ile) c.787+3570A>T (n.787+3570A>T) c.1997A>T (p.Lys666Ile) | |
| 8 | g.54625858_54625859insCACACCCAACAC | CA2780387003 | RP1 | c.1976_1977insCACACCCAACAC (p.Lys659delinsAsnThrProAsnThr) c.787+3570_787+3571insCACACCCAACAC (n.787+3570_787+3571insCACACCCAACAC) c.1997_1998insCACACCCAACAC (p.Lys666delinsAsnThrProAsnThr) | |
| 8 | g.54625859A>C | CA370992463 | RP1 | c.1977A>C (p.Lys659Asn) c.787+3571A>C (n.787+3571A>C) c.1998A>C (p.Lys666Asn) | |
| 8 | g.54625859A>G | CA461098669 | RP1 | c.1977A>G (p.Lys659=) c.787+3571A>G (n.787+3571A>G) c.1998A>G (p.Lys666=) | |
| 8 | g.54625859A>T | CA370992464 | RP1 | c.1977A>T (p.Lys659Asn) c.787+3571A>T (n.787+3571A>T) c.1998A>T (p.Lys666Asn) | |
| 8 | g.54625860A= | CA1785188055 | RP1 | c.1978A= (p.Asn660=) c.787+3572A= (n.787+3572A=) c.1999A= (p.Asn667=) | |
| 8 | g.54625860A>C | CA4751456 | RP1 | c.1978A>C (p.Asn660His) c.787+3572A>C (n.787+3572A>C) c.1999A>C (p.Asn667His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54625860A>G | CA370992465 | RP1 | c.1978A>G (p.Asn660Asp) c.787+3572A>G (n.787+3572A>G) c.1999A>G (p.Asn667Asp) | |
| 8 | g.54625860A>T | CA370992466 | RP1 | c.1978A>T (p.Asn660Tyr) c.787+3572A>T (n.787+3572A>T) c.1999A>T (p.Asn667Tyr) | |
| 8 | g.54625861A>C | CA370992467 | RP1 | c.1979A>C (p.Asn660Thr) c.787+3573A>C (n.787+3573A>C) c.2000A>C (p.Asn667Thr) | |
| 8 | g.54625861A>G | CA370992468 | RP1 | c.1979A>G (p.Asn660Ser) c.787+3573A>G (n.787+3573A>G) c.2000A>G (p.Asn667Ser) | |
| 8 | g.54625861A>T | CA370992469 | RP1 | c.1979A>T (p.Asn660Ile) c.787+3573A>T (n.787+3573A>T) c.2000A>T (p.Asn667Ile) | |
| 8 | g.54625862T>A | CA10631274 | RP1 | c.1980T>A (p.Asn660Lys) c.787+3574T>A (n.787+3574T>A) c.2001T>A (p.Asn667Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625862T>C | CA461098675 | RP1 | c.1980T>C (p.Asn660=) c.787+3574T>C (n.787+3574T>C) c.2001T>C (p.Asn667=) | ClinVar gnomAD v4 |
| 8 | g.54625862T>G | CA370992470 | RP1 | c.1980T>G (p.Asn660Lys) c.787+3574T>G (n.787+3574T>G) c.2001T>G (p.Asn667Lys) | |
| 8 | g.54625862T= | CA1785188056 | RP1 | c.1980T= (p.Asn660=) c.787+3574T= (n.787+3574T=) c.2001T= (p.Asn667=) | |
| 8 | g.54625863G>A | CA177236941 | RP1 | c.1981G>A (p.Glu661Lys) c.787+3575G>A (n.787+3575G>A) c.2002G>A (p.Glu668Lys) | dbSNP COSMIC |
| 8 | g.54625863G>C | CA370992472 | RP1 | c.1981G>C (p.Glu661Gln) c.787+3575G>C (n.787+3575G>C) c.2002G>C (p.Glu668Gln) | gnomAD v4 |
| 8 | g.54625863G= | CA1785188057 | RP1 | c.1981G= (p.Glu661=) c.787+3575G= (n.787+3575G=) c.2002G= (p.Glu668=) | |
| 8 | g.54625863G>T | CA370992471 | RP1 | c.1981G>T (p.Glu661Ter) c.787+3575G>T (n.787+3575G>T) c.2002G>T (p.Glu668Ter) | ClinVar |
| 8 | g.54625864A>C | CA370992474 | RP1 | c.1982A>C (p.Glu661Ala) c.787+3576A>C (n.787+3576A>C) c.2003A>C (p.Glu668Ala) | gnomAD v4 |
| 8 | g.54625864A>G | CA370992473 | RP1 | c.1982A>G (p.Glu661Gly) c.787+3576A>G (n.787+3576A>G) c.2003A>G (p.Glu668Gly) | gnomAD v4 |
| 8 | g.54625864A>T | CA370992475 | RP1 | c.1982A>T (p.Glu661Val) c.787+3576A>T (n.787+3576A>T) c.2003A>T (p.Glu668Val) | |
| 8 | g.54625865A>C | CA370992476 | RP1 | c.1983A>C (p.Glu661Asp) c.787+3577A>C (n.787+3577A>C) c.2004A>C (p.Glu668Asp) | |
| 8 | g.54625865A>G | CA461098680 | RP1 | c.1983A>G (p.Glu661=) c.787+3577A>G (n.787+3577A>G) c.2004A>G (p.Glu668=) | |
| 8 | g.54625865A>T | CA370992477 | RP1 | c.1983A>T (p.Glu661Asp) c.787+3577A>T (n.787+3577A>T) c.2004A>T (p.Glu668Asp) | |
| 8 | g.54625866A= | CA1785188058 | RP1 | c.1984A= (p.Lys662=) c.787+3578A= (n.787+3578A=) c.2005A= (p.Lys669=) | |
| 8 | g.54625866A>C | CA370992478 | RP1 | c.1984A>C (p.Lys662Gln) c.787+3578A>C (n.787+3578A>C) c.2005A>C (p.Lys669Gln) | |
| 8 | g.54625866A>G | CA370992479 | RP1 | c.1984A>G (p.Lys662Glu) c.787+3578A>G (n.787+3578A>G) c.2005A>G (p.Lys669Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54625866A>T | CA370992480 | RP1 | c.1984A>T (p.Lys662Ter) c.787+3578A>T (n.787+3578A>T) c.2005A>T (p.Lys669Ter) | |
| 8 | g.54625870_54625872del | CA2687301829 | RP1 | c.1988_1990del (p.Lys663del) c.787+3582_787+3584del (n.787+3582_787+3584del) c.2009_2011del (p.Lys670del) | gnomAD v4 |
| 8 | g.54625867A= | CA1785188060 | RP1 | c.1985A= (p.Lys662=) c.787+3579A= (n.787+3579A=) c.2006A= (p.Lys669=) | |
| 8 | g.54625867A>C | CA370992481 | RP1 | c.1985A>C (p.Lys662Thr) c.787+3579A>C (n.787+3579A>C) c.2006A>C (p.Lys669Thr) | |
| 8 | g.54625867A>G | CA370992482 | RP1 | c.1985A>G (p.Lys662Arg) c.787+3579A>G (n.787+3579A>G) c.2006A>G (p.Lys669Arg) | dbSNP gnomAD v4 |
| 8 | g.54625867A>T | CA370992483 | RP1 | c.1985A>T (p.Lys662Met) c.787+3579A>T (n.787+3579A>T) c.2006A>T (p.Lys669Met) | |
| 8 | g.54625867_54625868delinsAG | CA1785188059 | RP1 | c.1985_1986delinsAG (p.Lys662=) c.787+3579_787+3580delinsAG (n.787+3579_787+3580delinsAG) c.2006_2007delinsAG (p.Lys669=) | |
| 8 | g.54625868del | CA4751457 | RP1 | c.1986del (p.Lys663ArgfsTer19) c.787+3580del (n.787+3580del) c.2007del (p.Lys670ArgfsTer19) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625868G>A | CA461098685 | RP1 | c.1986G>A (p.Lys662=) c.787+3580G>A (n.787+3580G>A) c.2007G>A (p.Lys669=) | ClinVar |
| 8 | g.54625868G>C | CA370992484 | RP1 | c.1986G>C (p.Lys662Asn) c.787+3580G>C (n.787+3580G>C) c.2007G>C (p.Lys669Asn) | |
| 8 | g.54625868G>T | CA370992485 | RP1 | c.1986G>T (p.Lys662Asn) c.787+3580G>T (n.787+3580G>T) c.2007G>T (p.Lys669Asn) | |
| 8 | g.54625869A>C | CA370992488 | RP1 | c.1987A>C (p.Lys663Gln) c.787+3581A>C (n.787+3581A>C) c.2008A>C (p.Lys670Gln) | |
| 8 | g.54625869A>G | CA370992487 | RP1 | c.1987A>G (p.Lys663Glu) c.787+3581A>G (n.787+3581A>G) c.2008A>G (p.Lys670Glu) | |
| 8 | g.54625869A>T | CA370992486 | RP1 | c.1987A>T (p.Lys663Ter) c.787+3581A>T (n.787+3581A>T) c.2008A>T (p.Lys670Ter) | |
| 8 | g.54625870A= | CA1785188061 | RP1 | c.1988A= (p.Lys663=) c.787+3582A= (n.787+3582A=) c.2009A= (p.Lys670=) | |
| 8 | g.54625870A>C | CA370992489 | RP1 | c.1988A>C (p.Lys663Thr) c.787+3582A>C (n.787+3582A>C) c.2009A>C (p.Lys670Thr) | |
| 8 | g.54625870A>G | CA177236944 | RP1 | c.1988A>G (p.Lys663Arg) c.787+3582A>G (n.787+3582A>G) c.2009A>G (p.Lys670Arg) | dbSNP gnomAD v4 |
| 8 | g.54625870A>T | CA370992490 | RP1 | c.1988A>T (p.Lys663Met) c.787+3582A>T (n.787+3582A>T) c.2009A>T (p.Lys670Met) | gnomAD v4 |
| 8 | g.54625871G>A | CA4751458 | RP1 | c.1989G>A (p.Lys663=) c.787+3583G>A (n.787+3583G>A) c.2010G>A (p.Lys670=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625871G>C | CA370992491 | RP1 | c.1989G>C (p.Lys663Asn) c.787+3583G>C (n.787+3583G>C) c.2010G>C (p.Lys670Asn) | |
| 8 | g.54625871G= | CA1785188062 | RP1 | c.1989G= (p.Lys663=) c.787+3583G= (n.787+3583G=) c.2010G= (p.Lys670=) | |
| 8 | g.54625871G>T | CA4751459 | RP1 | c.1989G>T (p.Lys663Asn) c.787+3583G>T (n.787+3583G>T) c.2010G>T (p.Lys670Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625872A= | CA1785188063 | RP1 | c.1990A= (p.Ile664=) c.787+3584A= (n.787+3584A=) c.2011A= (p.Ile671=) | |
| 8 | g.54625872A>C | CA370992492 | RP1 | c.1990A>C (p.Ile664Leu) c.787+3584A>C (n.787+3584A>C) c.2011A>C (p.Ile671Leu) | |
| 8 | g.54625872A>G | CA4751460 | RP1 | c.1990A>G (p.Ile664Val) c.787+3584A>G (n.787+3584A>G) c.2011A>G (p.Ile671Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625872A>T | CA370992493 | RP1 | c.1990A>T (p.Ile664Phe) c.787+3584A>T (n.787+3584A>T) c.2011A>T (p.Ile671Phe) | |
| 8 | g.54625873T>A | CA370992494 | RP1 | c.1991T>A (p.Ile664Asn) c.787+3585T>A (n.787+3585T>A) c.2012T>A (p.Ile671Asn) | |
| 8 | g.54625873T>C | CA370992495 | RP1 | c.1991T>C (p.Ile664Thr) c.787+3585T>C (n.787+3585T>C) c.2012T>C (p.Ile671Thr) | |
| 8 | g.54625873T>G | CA370992496 | RP1 | c.1991T>G (p.Ile664Ser) c.787+3585T>G (n.787+3585T>G) c.2012T>G (p.Ile671Ser) | |
| 8 | g.54625876dup | CA2544527527 | RP1 | c.1994dup (p.Leu665PhefsTer?) c.787+3588dup (n.787+3588dup) c.2015dup (p.Leu672PhefsTer?) | |
| 8 | g.54625876del | CA2499219345 | RP1 | c.1994del (p.Leu665CysfsTer17) c.787+3588del (n.787+3588del) c.2015del (p.Leu672CysfsTer17) | ClinVar dbSNP |
| 8 | g.54625874T>A | CA461098700 | RP1 | c.1992T>A (p.Ile664=) c.787+3586T>A (n.787+3586T>A) c.2013T>A (p.Ile671=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54625874T>C | CA461098701 | RP1 | c.1992T>C (p.Ile664=) c.787+3586T>C (n.787+3586T>C) c.2013T>C (p.Ile671=) | |
| 8 | g.54625874T>G | CA4751461 | RP1 | c.1992T>G (p.Ile664Met) c.787+3586T>G (n.787+3586T>G) c.2013T>G (p.Ile671Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54625874T= | CA1785188064 | RP1 | c.1992T= (p.Ile664=) c.787+3586T= (n.787+3586T=) c.2013T= (p.Ile671=) | |
| 8 | g.54625875T>A | CA370992498 | RP1 | c.1993T>A (p.Leu665Met) c.787+3587T>A (n.787+3587T>A) c.2014T>A (p.Leu672Met) | |
| 8 | g.54625875T>C | CA461098703 | RP1 | c.1993T>C (p.Leu665=) c.787+3587T>C (n.787+3587T>C) c.2014T>C (p.Leu672=) | |
| 8 | g.54625875T>G | CA370992497 | RP1 | c.1993T>G (p.Leu665Val) c.787+3587T>G (n.787+3587T>G) c.2014T>G (p.Leu672Val) | |
| 8 | g.54625876T>A | CA370992499 | RP1 | c.1994T>A (p.Leu665Ter) c.787+3588T>A (n.787+3588T>A) c.2015T>A (p.Leu672Ter) | |
| 8 | g.54625876T>C | CA370992501 | RP1 | c.1994T>C (p.Leu665Ser) c.787+3588T>C (n.787+3588T>C) c.2015T>C (p.Leu672Ser) | |
| 8 | g.54625876T>G | CA370992500 | RP1 | c.1994T>G (p.Leu665Trp) c.787+3588T>G (n.787+3588T>G) c.2015T>G (p.Leu672Trp) | |
| 8 | g.54625877G>A | CA461098707 | RP1 | c.1995G>A (p.Leu665=) c.787+3589G>A (n.787+3589G>A) c.2016G>A (p.Leu672=) | |
| 8 | g.54625877G>C | CA370992502 | RP1 | c.1995G>C (p.Leu665Phe) c.787+3589G>C (n.787+3589G>C) c.2016G>C (p.Leu672Phe) | |
| 8 | g.54625877G>T | CA370992503 | RP1 | c.1995G>T (p.Leu665Phe) c.787+3589G>T (n.787+3589G>T) c.2016G>T (p.Leu672Phe) | dbSNP |
| 8 | g.54625878T>A | CA370992504 | RP1 | c.1996T>A (p.Ser666Thr) c.787+3590T>A (n.787+3590T>A) c.2017T>A (p.Ser673Thr) | |
| 8 | g.54625878T>C | CA370992505 | RP1 | c.1996T>C (p.Ser666Pro) c.787+3590T>C (n.787+3590T>C) c.2017T>C (p.Ser673Pro) | |
| 8 | g.54625878T>G | CA370992506 | RP1 | c.1996T>G (p.Ser666Ala) c.787+3590T>G (n.787+3590T>G) c.2017T>G (p.Ser673Ala) | |
| 8 | g.54625879C>A | CA370992507 | RP1 | c.1997C>A (p.Ser666Ter) c.787+3591C>A (n.787+3591C>A) c.2018C>A (p.Ser673Ter) | |
| 8 | g.54625879C>G | CA370992508 | RP1 | c.1997C>G (p.Ser666Ter) c.787+3591C>G (n.787+3591C>G) c.2018C>G (p.Ser673Ter) | |
| 8 | g.54625879C>T | CA370992509 | RP1 | c.1997C>T (p.Ser666Leu) c.787+3591C>T (n.787+3591C>T) c.2018C>T (p.Ser673Leu) | COSMIC |
| 8 | g.54625880A= | CA1785188065 | RP1 | c.1998A= (p.Ser666=) c.787+3592A= (n.787+3592A=) c.2019A= (p.Ser673=) | |
| 8 | g.54625880A>C | CA461098710 | RP1 | c.1998A>C (p.Ser666=) c.787+3592A>C (n.787+3592A>C) c.2019A>C (p.Ser673=) | |
| 8 | g.54625880A>G | CA461098711 | RP1 | c.1998A>G (p.Ser666=) c.787+3592A>G (n.787+3592A>G) c.2019A>G (p.Ser673=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54625880A>T | CA461098712 | RP1 | c.1998A>T (p.Ser666=) c.787+3592A>T (n.787+3592A>T) c.2019A>T (p.Ser673=) | |
| 8 | g.54625881T>A | CA370992510 | RP1 | c.1999T>A (p.Ser667Thr) c.787+3593T>A (n.787+3593T>A) c.2020T>A (p.Ser674Thr) | |
| 8 | g.54625881T>C | CA370992511 | RP1 | c.1999T>C (p.Ser667Pro) c.787+3593T>C (n.787+3593T>C) c.2020T>C (p.Ser674Pro) | |
| 8 | g.54625881T>G | CA370992512 | RP1 | c.1999T>G (p.Ser667Ala) c.787+3593T>G (n.787+3593T>G) c.2020T>G (p.Ser674Ala) | |
| 8 | g.54625881_54625882insACTA | CA2780387004 | RP1 | c.1999_2000insACTA (p.Ser667TyrfsTer?) c.787+3593_787+3594insACTA (n.787+3593_787+3594insACTA) c.2020_2021insACTA (p.Ser674TyrfsTer?) | |
| 8 | g.54625882C>A | CA370992514 | RP1 | c.2000C>A (p.Ser667Tyr) c.787+3594C>A (n.787+3594C>A) c.2021C>A (p.Ser674Tyr) | |
| 8 | g.54625882C= | CA1785188066 | RP1 | c.2000C= (p.Ser667=) c.787+3594C= (n.787+3594C=) c.2021C= (p.Ser674=) | |
| 8 | g.54625882C>G | CA370992513 | RP1 | c.2000C>G (p.Ser667Cys) c.787+3594C>G (n.787+3594C>G) c.2021C>G (p.Ser674Cys) | |
| 8 | g.54625882C>T | CA4751462 | RP1 | c.2000C>T (p.Ser667Phe) c.787+3594C>T (n.787+3594C>T) c.2021C>T (p.Ser674Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54625882_54625883insACA | CA2780387005 | RP1 | c.2000_2001insACA (p.Ser667_Val668insHis) c.787+3594_787+3595insACA (n.787+3594_787+3595insACA) c.2021_2022insACA (p.Ser674_Val675insHis) | |
| 8 | g.54625883del | CA2580078488 | RP1 | c.2001del (p.Val668LeufsTer14) c.787+3595del (n.787+3595del) c.2022del (p.Val675LeufsTer14) | ClinVar |
| 8 | g.54625883T>A | CA461098715 | RP1 | c.2001T>A (p.Ser667=) c.787+3595T>A (n.787+3595T>A) c.2022T>A (p.Ser674=) | |
| 8 | g.54625883T>C | CA461098716 | RP1 | c.2001T>C (p.Ser667=) c.787+3595T>C (n.787+3595T>C) c.2022T>C (p.Ser674=) | |
| 8 | g.54625883T>G | CA461098718 | RP1 | c.2001T>G (p.Ser667=) c.787+3595T>G (n.787+3595T>G) c.2022T>G (p.Ser674=) | dbSNP |
| 8 | g.54625883T= | CA1785188067 | RP1 | c.2001T= (p.Ser667=) c.787+3595T= (n.787+3595T=) c.2022T= (p.Ser674=) | |
| 8 | g.54625884del | CA2573143218 | RP1 | c.2002del (p.Val668LeufsTer14) c.787+3596del (n.787+3596del) c.2023del (p.Val675LeufsTer14) | dbSNP |
| 8 | g.54625884G>A | CA370992515 | RP1 | c.2002G>A (p.Val668Ile) c.787+3596G>A (n.787+3596G>A) c.2023G>A (p.Val675Ile) | |
| 8 | g.54625884G>C | CA370992516 | RP1 | c.2002G>C (p.Val668Leu) c.787+3596G>C (n.787+3596G>C) c.2023G>C (p.Val675Leu) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54625884G= | CA1785188068 | RP1 | c.2002G= (p.Val668=) c.787+3596G= (n.787+3596G=) c.2023G= (p.Val675=) | |
| 8 | g.54625884G>T | CA370992517 | RP1 | c.2002G>T (p.Val668Phe) c.787+3596G>T (n.787+3596G>T) c.2023G>T (p.Val675Phe) | |
| 8 | g.54625885T>A | CA370992518 | RP1 | c.2003T>A (p.Val668Asp) c.787+3597T>A (n.787+3597T>A) c.2024T>A (p.Val675Asp) | |
| 8 | g.54625885T>C | CA370992519 | RP1 | c.2003T>C (p.Val668Ala) c.787+3597T>C (n.787+3597T>C) c.2024T>C (p.Val675Ala) | |
| 8 | g.54625885T>G | CA370992520 | RP1 | c.2003T>G (p.Val668Gly) c.787+3597T>G (n.787+3597T>G) c.2024T>G (p.Val675Gly) | |
| 8 | g.54625886T>A | CA461098723 | RP1 | c.2004T>A (p.Val668=) c.787+3598T>A (n.787+3598T>A) c.2025T>A (p.Val675=) | |
| 8 | g.54625886T>C | CA461098724 | RP1 | c.2004T>C (p.Val668=) c.787+3598T>C (n.787+3598T>C) c.2025T>C (p.Val675=) | |
| 8 | g.54625886T>G | CA461098725 | RP1 | c.2004T>G (p.Val668=) c.787+3598T>G (n.787+3598T>G) c.2025T>G (p.Val675=) | |
| 8 | g.54625887del | CA2780387006 | RP1 | c.2005del (p.Ala669ProfsTer13) c.787+3599del (n.787+3599del) c.2026del (p.Ala676ProfsTer13) | |
| 8 | g.54625887G>A | CA4751463 | RP1 | c.2005G>A (p.Ala669Thr) c.787+3599G>A (n.787+3599G>A) c.2026G>A (p.Ala676Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625887G>C | CA370992521 | RP1 | c.2005G>C (p.Ala669Pro) c.787+3599G>C (n.787+3599G>C) c.2026G>C (p.Ala676Pro) | |
| 8 | g.54625887G= | CA1785188069 | RP1 | c.2005G= (p.Ala669=) c.787+3599G= (n.787+3599G=) c.2026G= (p.Ala676=) | |
| 8 | g.54625887G>T | CA370992522 | RP1 | c.2005G>T (p.Ala669Ser) c.787+3599G>T (n.787+3599G>T) c.2026G>T (p.Ala676Ser) | COSMIC |
| 8 | g.54625887_54625889del | CA2780387007 | RP1 | c.2005_2007del (p.Ala669del) c.787+3599_787+3601del (n.787+3599_787+3601del) c.2026_2028del (p.Ala676del) | |
| 8 | g.54625888C>A | CA370992523 | RP1 | c.2006C>A (p.Ala669Asp) c.787+3600C>A (n.787+3600C>A) c.2027C>A (p.Ala676Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54625888C= | CA1785188070 | RP1 | c.2006C= (p.Ala669=) c.787+3600C= (n.787+3600C=) c.2027C= (p.Ala676=) | |
| 8 | g.54625888C>G | CA370992524 | RP1 | c.2006C>G (p.Ala669Gly) c.787+3600C>G (n.787+3600C>G) c.2027C>G (p.Ala676Gly) | |
| 8 | g.54625888C>T | CA370992525 | RP1 | c.2006C>T (p.Ala669Val) c.787+3600C>T (n.787+3600C>T) c.2027C>T (p.Ala676Val) | dbSNP gnomAD v4 |
| 8 | g.54625889C>A | CA461098730 | RP1 | c.2007C>A (p.Ala669=) c.787+3601C>A (n.787+3601C>A) c.2028C>A (p.Ala676=) | |
| 8 | g.54625889C>G | CA461098731 | RP1 | c.2007C>G (p.Ala669=) c.787+3601C>G (n.787+3601C>G) c.2028C>G (p.Ala676=) | |
| 8 | g.54625889C>T | CA461098732 | RP1 | c.2007C>T (p.Ala669=) c.787+3601C>T (n.787+3601C>T) c.2028C>T (p.Ala676=) | gnomAD v4 |
| 8 | g.54625890A>C | CA370992528 | RP1 | c.2008A>C (p.Ser670Arg) c.787+3602A>C (n.787+3602A>C) c.2029A>C (p.Ser677Arg) | |
| 8 | g.54625890A>G | CA370992527 | RP1 | c.2008A>G (p.Ser670Gly) c.787+3602A>G (n.787+3602A>G) c.2029A>G (p.Ser677Gly) | |
| 8 | g.54625890A>T | CA370992526 | RP1 | c.2008A>T (p.Ser670Cys) c.787+3602A>T (n.787+3602A>T) c.2029A>T (p.Ser677Cys) | |
| 8 | g.54625891G>A | CA370992529 | RP1 | c.2009G>A (p.Ser670Asn) c.787+3603G>A (n.787+3603G>A) c.2030G>A (p.Ser677Asn) | |
| 8 | g.54625891G>C | CA370992530 | RP1 | c.2009G>C (p.Ser670Thr) c.787+3603G>C (n.787+3603G>C) c.2030G>C (p.Ser677Thr) | |
| 8 | g.54625891G>T | CA370992531 | RP1 | c.2009G>T (p.Ser670Ile) c.787+3603G>T (n.787+3603G>T) c.2030G>T (p.Ser677Ile) | |
| 8 | g.54625892C>A | CA370992532 | RP1 | c.2010C>A (p.Ser670Arg) c.787+3604C>A (n.787+3604C>A) c.2031C>A (p.Ser677Arg) | |
| 8 | g.54625892C>G | CA370992533 | RP1 | c.2010C>G (p.Ser670Arg) c.787+3604C>G (n.787+3604C>G) c.2031C>G (p.Ser677Arg) | gnomAD v4 |
| 8 | g.54625892C>T | CA461098736 | RP1 | c.2010C>T (p.Ser670=) c.787+3604C>T (n.787+3604C>T) c.2031C>T (p.Ser677=) | |
| 8 | g.54625893A= | CA1785188071 | RP1 | c.2011A= (p.Lys671=) c.787+3605A= (n.787+3605A=) c.2032A= (p.Lys678=) | |
| 8 | g.54625893A>C | CA4751464 | RP1 | c.2011A>C (p.Lys671Gln) c.787+3605A>C (n.787+3605A>C) c.2032A>C (p.Lys678Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625893A>G | CA370992534 | RP1 | c.2011A>G (p.Lys671Glu) c.787+3605A>G (n.787+3605A>G) c.2032A>G (p.Lys678Glu) | |
| 8 | g.54625893A>T | CA370992535 | RP1 | c.2011A>T (p.Lys671Ter) c.787+3605A>T (n.787+3605A>T) c.2032A>T (p.Lys678Ter) | |
| 8 | g.54625897dup | CA2573053024 | RP1 | c.2015dup (p.Lys673GlufsTer25) c.787+3609dup (n.787+3609dup) c.2036dup (p.Lys680GlufsTer25) | ClinVar dbSNP |
| 8 | g.54625897del | CA923726313 | RP1 | c.2015del (p.Lys672ArgfsTer10) c.787+3609del (n.787+3609del) c.2036del (p.Lys679ArgfsTer10) | ClinVar |
| 8 | g.54625894A>C | CA370992536 | RP1 | c.2012A>C (p.Lys671Thr) c.787+3606A>C (n.787+3606A>C) c.2033A>C (p.Lys678Thr) | |
| 8 | g.54625894A>G | CA370992537 | RP1 | c.2012A>G (p.Lys671Arg) c.787+3606A>G (n.787+3606A>G) c.2033A>G (p.Lys678Arg) | |
| 8 | g.54625894A>T | CA370992538 | RP1 | c.2012A>T (p.Lys671Ile) c.787+3606A>T (n.787+3606A>T) c.2033A>T (p.Lys678Ile) | |
| 8 | g.54625895A>C | CA370992539 | RP1 | c.2013A>C (p.Lys671Asn) c.787+3607A>C (n.787+3607A>C) c.2034A>C (p.Lys678Asn) | |
| 8 | g.54625895A>G | CA461098744 | RP1 | c.2013A>G (p.Lys671=) c.787+3607A>G (n.787+3607A>G) c.2034A>G (p.Lys678=) | |
| 8 | g.54625895A>T | CA370992540 | RP1 | c.2013A>T (p.Lys671Asn) c.787+3607A>T (n.787+3607A>T) c.2034A>T (p.Lys678Asn) | |
| 8 | g.54625896A>C | CA370992543 | RP1 | c.2014A>C (p.Lys672Gln) c.787+3608A>C (n.787+3608A>C) c.2035A>C (p.Lys679Gln) | |
| 8 | g.54625896A>G | CA370992542 | RP1 | c.2014A>G (p.Lys672Glu) c.787+3608A>G (n.787+3608A>G) c.2035A>G (p.Lys679Glu) | |
| 8 | g.54625896A>T | CA370992541 | RP1 | c.2014A>T (p.Lys672Ter) c.787+3608A>T (n.787+3608A>T) c.2035A>T (p.Lys679Ter) | |
| 8 | g.54625901_54625903del | CA2579168457 | RP1 | c.2019_2021del (p.Lys674del) c.787+3613_787+3615del (n.787+3613_787+3615del) c.2040_2042del (p.Lys681del) | |
| 8 | g.54625897A>C | CA370992544 | RP1 | c.2015A>C (p.Lys672Thr) c.787+3609A>C (n.787+3609A>C) c.2036A>C (p.Lys679Thr) | |
| 8 | g.54625897A>G | CA370992545 | RP1 | c.2015A>G (p.Lys672Arg) c.787+3609A>G (n.787+3609A>G) c.2036A>G (p.Lys679Arg) | |
| 8 | g.54625897A>T | CA370992546 | RP1 | c.2015A>T (p.Lys672Met) c.787+3609A>T (n.787+3609A>T) c.2036A>T (p.Lys679Met) | |
| 8 | g.54625898G>A | CA177236958 | RP1 | c.2016G>A (p.Lys672=) c.787+3610G>A (n.787+3610G>A) c.2037G>A (p.Lys679=) | dbSNP COSMIC |
| 8 | g.54625898G>C | CA177236962 | RP1 | c.2016G>C (p.Lys672Asn) c.787+3610G>C (n.787+3610G>C) c.2037G>C (p.Lys679Asn) | dbSNP gnomAD v4 |
| 8 | g.54625898G= | CA1785188072 | RP1 | c.2016G= (p.Lys672=) c.787+3610G= (n.787+3610G=) c.2037G= (p.Lys679=) | |
| 8 | g.54625898G>T | CA4751465 | RP1 | c.2016G>T (p.Lys672Asn) c.787+3610G>T (n.787+3610G>T) c.2037G>T (p.Lys679Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54625899A= | CA1785188073 | RP1 | c.2017A= (p.Lys673=) c.787+3611A= (n.787+3611A=) c.2038A= (p.Lys680=) | |
| 8 | g.54625899A>C | CA370992547 | RP1 | c.2017A>C (p.Lys673Gln) c.787+3611A>C (n.787+3611A>C) c.2038A>C (p.Lys680Gln) | |
| 8 | g.54625899A>G | CA4751466 | RP1 | c.2017A>G (p.Lys673Glu) c.787+3611A>G (n.787+3611A>G) c.2038A>G (p.Lys680Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54625899A>T | CA370992548 | RP1 | c.2017A>T (p.Lys673Ter) c.787+3611A>T (n.787+3611A>T) c.2038A>T (p.Lys680Ter) | ClinVar dbSNP |
| 8 | g.54625900del | CA2499219346 | RP1 | c.2018del (p.Lys673ArgfsTer9) c.787+3612del (n.787+3612del) c.2039del (p.Lys680ArgfsTer9) | ClinVar dbSNP |
| 8 | g.54625900A>C | CA370992549 | RP1 | c.2018A>C (p.Lys673Thr) c.787+3612A>C (n.787+3612A>C) c.2039A>C (p.Lys680Thr) | |
| 8 | g.54625900A>G | CA370992550 | RP1 | c.2018A>G (p.Lys673Arg) c.787+3612A>G (n.787+3612A>G) c.2039A>G (p.Lys680Arg) | |
| 8 | g.54625900A>T | CA370992551 | RP1 | c.2018A>T (p.Lys673Met) c.787+3612A>T (n.787+3612A>T) c.2039A>T (p.Lys680Met) | |
| 8 | g.54625901G>A | CA461098754 | RP1 | c.2019G>A (p.Lys673=) c.787+3613G>A (n.787+3613G>A) c.2040G>A (p.Lys680=) | |
| 8 | g.54625901G>C | CA370992552 | RP1 | c.2019G>C (p.Lys673Asn) c.787+3613G>C (n.787+3613G>C) c.2040G>C (p.Lys680Asn) | |
| 8 | g.54625901G= | CA1785188074 | RP1 | c.2019G= (p.Lys673=) c.787+3613G= (n.787+3613G=) c.2040G= (p.Lys680=) | |
| 8 | g.54625901G>T | CA370992553 | RP1 | c.2019G>T (p.Lys673Asn) c.787+3613G>T (n.787+3613G>T) c.2040G>T (p.Lys680Asn) | COSMIC |
| 8 | g.54625902A= | CA1785188075 | RP1 | c.2020A= (p.Lys674=) c.787+3614A= (n.787+3614A=) c.2041A= (p.Lys681=) | |
| 8 | g.54625902A>C | CA370992555 | RP1 | c.2020A>C (p.Lys674Gln) c.787+3614A>C (n.787+3614A>C) c.2041A>C (p.Lys681Gln) | dbSNP |
| 8 | g.54625902A>G | CA370992556 | RP1 | c.2020A>G (p.Lys674Glu) c.787+3614A>G (n.787+3614A>G) c.2041A>G (p.Lys681Glu) | gnomAD v4 |
| 8 | g.54625902A>T | CA370992554 | RP1 | c.2020A>T (p.Lys674Ter) c.787+3614A>T (n.787+3614A>T) c.2041A>T (p.Lys681Ter) | |
| 8 | g.54625907dup | CA582205357 | RP1 | c.2025dup (p.Ser676IlefsTer22) c.787+3619dup (n.787+3619dup) c.2046dup (p.Ser683IlefsTer22) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625907del | CA2695209261 | RP1 | c.2025del (p.Lys675AsnfsTer7) c.787+3619del (n.787+3619del) c.2046del (p.Lys682AsnfsTer7) | ClinVar |
| 8 | g.54625903A= | CA1785188076 | RP1 | c.2021A= (p.Lys674=) c.787+3615A= (n.787+3615A=) c.2042A= (p.Lys681=) | |
| 8 | g.54625903A>C | CA370992557 | RP1 | c.2021A>C (p.Lys674Thr) c.787+3615A>C (n.787+3615A>C) c.2042A>C (p.Lys681Thr) | |
| 8 | g.54625903A>G | CA4751467 | RP1 | c.2021A>G (p.Lys674Arg) c.787+3615A>G (n.787+3615A>G) c.2042A>G (p.Lys681Arg) | dbSNP ExAC gnomAD v2 |
| 8 | g.54625903A>T | CA370992558 | RP1 | c.2021A>T (p.Lys674Ile) c.787+3615A>T (n.787+3615A>T) c.2042A>T (p.Lys681Ile) | |
| 8 | g.54625904A>C | CA370992559 | RP1 | c.2022A>C (p.Lys674Asn) c.787+3616A>C (n.787+3616A>C) c.2043A>C (p.Lys681Asn) | |
| 8 | g.54625904A>G | CA461098759 | RP1 | c.2022A>G (p.Lys674=) c.787+3616A>G (n.787+3616A>G) c.2043A>G (p.Lys681=) | |
| 8 | g.54625904A>T | CA370992560 | RP1 | c.2022A>T (p.Lys674Asn) c.787+3616A>T (n.787+3616A>T) c.2043A>T (p.Lys681Asn) | |
| 8 | g.54625905A>C | CA370992561 | RP1 | c.2023A>C (p.Lys675Gln) c.787+3617A>C (n.787+3617A>C) c.2044A>C (p.Lys682Gln) | |
| 8 | g.54625905A>G | CA370992562 | RP1 | c.2023A>G (p.Lys675Glu) c.787+3617A>G (n.787+3617A>G) c.2044A>G (p.Lys682Glu) | |
| 8 | g.54625905A>T | CA370992563 | RP1 | c.2023A>T (p.Lys675Ter) c.787+3617A>T (n.787+3617A>T) c.2044A>T (p.Lys682Ter) | |
| 8 | g.54625906A= | CA1785188077 | RP1 | c.2024A= (p.Lys675=) c.787+3618A= (n.787+3618A=) c.2045A= (p.Lys682=) | |
| 8 | g.54625906A>C | CA370992564 | RP1 | c.2024A>C (p.Lys675Thr) c.787+3618A>C (n.787+3618A>C) c.2045A>C (p.Lys682Thr) | |
| 8 | g.54625906A>G | CA370992565 | RP1 | c.2024A>G (p.Lys675Arg) c.787+3618A>G (n.787+3618A>G) c.2045A>G (p.Lys682Arg) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54625906A>T | CA4751468 | RP1 | c.2024A>T (p.Lys675Ile) c.787+3618A>T (n.787+3618A>T) c.2045A>T (p.Lys682Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625907A= | CA1785188078 | RP1 | c.2025A= (p.Lys675=) c.787+3619A= (n.787+3619A=) c.2046A= (p.Lys682=) | |
| 8 | g.54625907A>C | CA177236971 | RP1 | c.2025A>C (p.Lys675Asn) c.787+3619A>C (n.787+3619A>C) c.2046A>C (p.Lys682Asn) | dbSNP |
| 8 | g.54625907A>G | CA461098761 | RP1 | c.2025A>G (p.Lys675=) c.787+3619A>G (n.787+3619A>G) c.2046A>G (p.Lys682=) | ClinVar dbSNP |
| 8 | g.54625907A>T | CA370992566 | RP1 | c.2025A>T (p.Lys675Asn) c.787+3619A>T (n.787+3619A>T) c.2046A>T (p.Lys682Asn) | ClinVar dbSNP |
| 8 | g.54625907_54625908delinsAT | CA1785188079 | RP1 | c.2025_2026delinsAT (p.Lys675=) c.787+3619_787+3620delinsAT (n.787+3619_787+3620delinsAT) c.2046_2047delinsAT (p.Lys682=) | |
| 8 | g.54625908del | CA915945687 | RP1 | c.2026del (p.Ser676LeufsTer6) c.787+3620del (n.787+3620del) c.2047del (p.Ser683LeufsTer6) | ClinVar dbSNP |
| 8 | g.54625908T>A | CA370992569 | RP1 | c.2026T>A (p.Ser676Thr) c.787+3620T>A (n.787+3620T>A) c.2047T>A (p.Ser683Thr) | |
| 8 | g.54625908T>C | CA370992567 | RP1 | c.2026T>C (p.Ser676Pro) c.787+3620T>C (n.787+3620T>C) c.2047T>C (p.Ser683Pro) | |
| 8 | g.54625908T>G | CA370992568 | RP1 | c.2026T>G (p.Ser676Ala) c.787+3620T>G (n.787+3620T>G) c.2047T>G (p.Ser683Ala) | COSMIC |
| 8 | g.54625909C>A | CA4751469 | RP1 | c.2027C>A (p.Ser676Tyr) c.787+3621C>A (n.787+3621C>A) c.2048C>A (p.Ser683Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54625909C= | CA1785188080 | RP1 | c.2027C= (p.Ser676=) c.787+3621C= (n.787+3621C=) c.2048C= (p.Ser683=) | |
| 8 | g.54625909C>G | CA370992570 | RP1 | c.2027C>G (p.Ser676Cys) c.787+3621C>G (n.787+3621C>G) c.2048C>G (p.Ser683Cys) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54625909C>T | CA370992571 | RP1 | c.2027C>T (p.Ser676Phe) c.787+3621C>T (n.787+3621C>T) c.2048C>T (p.Ser683Phe) | dbSNP gnomAD v4 |
| 8 | g.54625910T>A | CA461098763 | RP1 | c.2028T>A (p.Ser676=) c.787+3622T>A (n.787+3622T>A) c.2049T>A (p.Ser683=) | |
| 8 | g.54625910T>C | CA461098764 | RP1 | c.2028T>C (p.Ser676=) c.787+3622T>C (n.787+3622T>C) c.2049T>C (p.Ser683=) | |
| 8 | g.54625910T>G | CA461098766 | RP1 | c.2028T>G (p.Ser676=) c.787+3622T>G (n.787+3622T>G) c.2049T>G (p.Ser683=) | |
| 8 | g.54625911del | CA2695209262 | RP1 | c.2029del (p.Arg677AspfsTer5) c.787+3623del (n.787+3623del) c.2050del (p.Arg684AspfsTer5) | |
| 8 | g.54625911C>A | CA461098768 | RP1 | c.2029C>A (p.Arg677=) c.787+3623C>A (n.787+3623C>A) c.2050C>A (p.Arg684=) | dbSNP |
| 8 | g.54625911C= | CA1785188081 | RP1 | c.2029C= (p.Arg677=) c.787+3623C= (n.787+3623C=) c.2050C= (p.Arg684=) | |
| 8 | g.54625911C>G | CA370992572 | RP1 | c.2029C>G (p.Arg677Gly) c.787+3623C>G (n.787+3623C>G) c.2050C>G (p.Arg684Gly) | dbSNP |
| 8 | g.54625911C>T | CA253665 | RP1 | c.2029C>T (p.Arg677Ter) c.787+3623C>T (n.787+3623C>T) c.2050C>T (p.Arg684Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.54625912G>A | CA177236987 | RP1 | c.2030G>A (p.Arg677Gln) c.787+3624G>A (n.787+3624G>A) c.2051G>A (p.Arg684Gln) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54625912G>C | CA370992573 | RP1 | c.2030G>C (p.Arg677Pro) c.787+3624G>C (n.787+3624G>C) c.2051G>C (p.Arg684Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54625912G= | CA1785188082 | RP1 | c.2030G= (p.Arg677=) c.787+3624G= (n.787+3624G=) c.2051G= (p.Arg684=) | |
| 8 | g.54625912G>T | CA370992574 | RP1 | c.2030G>T (p.Arg677Leu) c.787+3624G>T (n.787+3624G>T) c.2051G>T (p.Arg684Leu) | gnomAD v4 |
| 8 | g.54625913A>C | CA461098769 | RP1 | c.2031A>C (p.Arg677=) c.787+3625A>C (n.787+3625A>C) c.2052A>C (p.Arg684=) | |
| 8 | g.54625913A>G | CA461098770 | RP1 | c.2031A>G (p.Arg677=) c.787+3625A>G (n.787+3625A>G) c.2052A>G (p.Arg684=) | |
| 8 | g.54625913A>T | CA461098771 | RP1 | c.2031A>T (p.Arg677=) c.787+3625A>T (n.787+3625A>T) c.2052A>T (p.Arg684=) | |
| 8 | g.54625914C>A | CA370992575 | RP1 | c.2032C>A (p.Gln678Lys) c.787+3626C>A (n.787+3626C>A) c.2053C>A (p.Gln685Lys) | |
| 8 | g.54625914C= | CA1785188083 | RP1 | c.2032C= (p.Gln678=) c.787+3626C= (n.787+3626C=) c.2053C= (p.Gln685=) | |
| 8 | g.54625914C>G | CA370992576 | RP1 | c.2032C>G (p.Gln678Glu) c.787+3626C>G (n.787+3626C>G) c.2053C>G (p.Gln685Glu) | |
| 8 | g.54625914C>T | CA10581673 | RP1 | c.2032C>T (p.Gln678Ter) c.787+3626C>T (n.787+3626C>T) c.2053C>T (p.Gln685Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54625915A>C | CA370992579 | RP1 | c.2033A>C (p.Gln678Pro) c.787+3627A>C (n.787+3627A>C) c.2054A>C (p.Gln685Pro) | |
| 8 | g.54625915A>G | CA370992578 | RP1 | c.2033A>G (p.Gln678Arg) c.787+3627A>G (n.787+3627A>G) c.2054A>G (p.Gln685Arg) | |
| 8 | g.54625915A>T | CA370992577 | RP1 | c.2033A>T (p.Gln678Leu) c.787+3627A>T (n.787+3627A>T) c.2054A>T (p.Gln685Leu) | |
| 8 | g.54625916G>A | CA4751470 | RP1 | c.2034G>A (p.Gln678=) c.787+3628G>A (n.787+3628G>A) c.2055G>A (p.Gln685=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.54625916G>C | CA370992581 | RP1 | c.2034G>C (p.Gln678His) c.787+3628G>C (n.787+3628G>C) c.2055G>C (p.Gln685His) | |
| 8 | g.54625916G= | CA1785188084 | RP1 | c.2034G= (p.Gln678=) c.787+3628G= (n.787+3628G=) c.2055G= (p.Gln685=) | |
| 8 | g.54625916G>T | CA370992580 | RP1 | c.2034G>T (p.Gln678His) c.787+3628G>T (n.787+3628G>T) c.2055G>T (p.Gln685His) | |
| 8 | g.54625917C>A | CA370992582 | RP1 | c.2035C>A (p.Gln679Lys) c.787+3629C>A (n.787+3629C>A) c.2056C>A (p.Gln686Lys) | |
| 8 | g.54625917C= | CA1785188085 | RP1 | c.2035C= (p.Gln679=) c.787+3629C= (n.787+3629C=) c.2056C= (p.Gln686=) | |
| 8 | g.54625917C>G | CA370992583 | RP1 | c.2035C>G (p.Gln679Glu) c.787+3629C>G (n.787+3629C>G) c.2056C>G (p.Gln686Glu) | |
| 8 | g.54625917C>T | CA253667 | RP1 | c.2035C>T (p.Gln679Ter) c.787+3629C>T (n.787+3629C>T) c.2056C>T (p.Gln686Ter) | ClinVar dbSNP |
| 8 | g.54625918A>C | CA370992584 | RP1 | c.2036A>C (p.Gln679Pro) c.787+3630A>C (n.787+3630A>C) c.2057A>C (p.Gln686Pro) | |
| 8 | g.54625918A>G | CA370992585 | RP1 | c.2036A>G (p.Gln679Arg) c.787+3630A>G (n.787+3630A>G) c.2057A>G (p.Gln686Arg) | |
| 8 | g.54625918A>T | CA370992586 | RP1 | c.2036A>T (p.Gln679Leu) c.787+3630A>T (n.787+3630A>T) c.2057A>T (p.Gln686Leu) | gnomAD v4 |
| 8 | g.54625919del | CA2580078490 | RP1 | c.2037del (p.Ala680GlnfsTer2) c.787+3631del (n.787+3631del) c.2058del (p.Ala687GlnfsTer2) | ClinVar |
| 8 | g.54625919A>C | CA370992588 | RP1 | c.2037A>C (p.Gln679His) c.787+3631A>C (n.787+3631A>C) c.2058A>C (p.Gln686His) | |
| 8 | g.54625919A>G | CA461098774 | RP1 | c.2037A>G (p.Gln679=) c.787+3631A>G (n.787+3631A>G) c.2058A>G (p.Gln686=) | |
| 8 | g.54625919A>T | CA370992587 | RP1 | c.2037A>T (p.Gln679His) c.787+3631A>T (n.787+3631A>T) c.2058A>T (p.Gln686His) | |
| 8 | g.54625920G>A | CA370992589 | RP1 | c.2038G>A (p.Ala680Thr) c.787+3632G>A (n.787+3632G>A) c.2059G>A (p.Ala687Thr) | gnomAD v4 |
| 8 | g.54625920G>C | CA370992590 | RP1 | c.2038G>C (p.Ala680Pro) c.787+3632G>C (n.787+3632G>C) c.2059G>C (p.Ala687Pro) | |
| 8 | g.54625920G>T | CA370992591 | RP1 | c.2038G>T (p.Ala680Ser) c.787+3632G>T (n.787+3632G>T) c.2059G>T (p.Ala687Ser) | |
| 8 | g.54625921C>A | CA370992592 | RP1 | c.2039C>A (p.Ala680Glu) c.787+3633C>A (n.787+3633C>A) c.2060C>A (p.Ala687Glu) | |
| 8 | g.54625921C= | CA1785188086 | RP1 | c.2039C= (p.Ala680=) c.787+3633C= (n.787+3633C=) c.2060C= (p.Ala687=) | |
| 8 | g.54625921C>G | CA370992593 | RP1 | c.2039C>G (p.Ala680Gly) c.787+3633C>G (n.787+3633C>G) c.2060C>G (p.Ala687Gly) | |
| 8 | g.54625921C>T | CA370992594 | RP1 | c.2039C>T (p.Ala680Val) c.787+3633C>T (n.787+3633C>T) c.2060C>T (p.Ala687Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.54625922A>C | CA461098777 | RP1 | c.2040A>C (p.Ala680=) c.787+3634A>C (n.787+3634A>C) c.2061A>C (p.Ala687=) | |
| 8 | g.54625922A>G | CA461098778 | RP1 | c.2040A>G (p.Ala680=) c.787+3634A>G (n.787+3634A>G) c.2061A>G (p.Ala687=) | |
| 8 | g.54625922A>T | CA461098779 | RP1 | c.2040A>T (p.Ala680=) c.787+3634A>T (n.787+3634A>T) c.2061A>T (p.Ala687=) | |
| 8 | g.54625923dup | CA461098776 | RP1 | c.2041dup (p.Ile681AsnfsTer17) c.787+3635dup (n.787+3635dup) c.2062dup (p.Ile688AsnfsTer17) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625923A= | CA1785188088 | RP1 | c.2041A= (p.Ile681=) c.787+3635A= (n.787+3635A=) c.2062A= (p.Ile688=) | |
| 8 | g.54625923A>C | CA370992596 | RP1 | c.2041A>C (p.Ile681Leu) c.787+3635A>C (n.787+3635A>C) c.2062A>C (p.Ile688Leu) | COSMIC |
| 8 | g.54625923A>G | CA4751471 | RP1 | c.2041A>G (p.Ile681Val) c.787+3635A>G (n.787+3635A>G) c.2062A>G (p.Ile688Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54625923A>T | CA370992595 | RP1 | c.2041A>T (p.Ile681Leu) c.787+3635A>T (n.787+3635A>T) c.2062A>T (p.Ile688Leu) | |
| 8 | g.54625923_54625924delinsAT | CA1785188087 | RP1 | c.2041_2042delinsAT (p.Ile681=) c.787+3635_787+3636delinsAT (n.787+3635_787+3636delinsAT) c.2062_2063delinsAT (p.Ile688=) | |
| 8 | g.54625924T>A | CA177236998 | RP1 | c.2042T>A (p.Ile681Lys) c.787+3636T>A (n.787+3636T>A) c.2063T>A (p.Ile688Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625924T>C | CA370992597 | RP1 | c.2042T>C (p.Ile681Thr) c.787+3636T>C (n.787+3636T>C) c.2063T>C (p.Ile688Thr) | |
| 8 | g.54625924T>G | CA370992598 | RP1 | c.2042T>G (p.Ile681Arg) c.787+3636T>G (n.787+3636T>G) c.2063T>G (p.Ile688Arg) | |
| 8 | g.54625924T= | CA1785188089 | RP1 | c.2042T= (p.Ile681=) c.787+3636T= (n.787+3636T=) c.2063T= (p.Ile688=) | |
| 8 | g.54625924delinsAA | CA1139660530 | RP1 | c.2042delinsAA (p.Ile681LysfsTer17) c.787+3636delinsAA (n.787+3636delinsAA) c.2063delinsAA (p.Ile688LysfsTer17) | ClinVar dbSNP |
| 8 | g.54625925A>C | CA461098783 | RP1 | c.2043A>C (p.Ile681=) c.787+3637A>C (n.787+3637A>C) c.2064A>C (p.Ile688=) | |
| 8 | g.54625925A>G | CA370992599 | RP1 | c.2043A>G (p.Ile681Met) c.787+3637A>G (n.787+3637A>G) c.2064A>G (p.Ile688Met) | |
| 8 | g.54625925A>T | CA461098782 | RP1 | c.2043A>T (p.Ile681=) c.787+3637A>T (n.787+3637A>T) c.2064A>T (p.Ile688=) | |
| 8 | g.54625926A>C | CA370992600 | RP1 | c.2044A>C (p.Asn682His) c.787+3638A>C (n.787+3638A>C) c.2065A>C (p.Asn689His) | |
| 8 | g.54625926A>G | CA370992601 | RP1 | c.2044A>G (p.Asn682Asp) c.787+3638A>G (n.787+3638A>G) c.2065A>G (p.Asn689Asp) | |
| 8 | g.54625926A>T | CA370992602 | RP1 | c.2044A>T (p.Asn682Tyr) c.787+3638A>T (n.787+3638A>T) c.2065A>T (p.Asn689Tyr) | |
| 8 | g.54625927A= | CA1785188090 | RP1 | c.2045A= (p.Asn682=) c.787+3639A= (n.787+3639A=) c.2066A= (p.Asn689=) | |
| 8 | g.54625927A>C | CA370992603 | RP1 | c.2045A>C (p.Asn682Thr) c.787+3639A>C (n.787+3639A>C) c.2066A>C (p.Asn689Thr) | dbSNP |
| 8 | g.54625927A>G | CA370992604 | RP1 | c.2045A>G (p.Asn682Ser) c.787+3639A>G (n.787+3639A>G) c.2066A>G (p.Asn689Ser) | |
| 8 | g.54625927A>T | CA370992605 | RP1 | c.2045A>T (p.Asn682Ile) c.787+3639A>T (n.787+3639A>T) c.2066A>T (p.Asn689Ile) | |
| 8 | g.54625928T>A | CA370992606 | RP1 | c.2046T>A (p.Asn682Lys) c.787+3640T>A (n.787+3640T>A) c.2067T>A (p.Asn689Lys) | |
| 8 | g.54625928T>C | CA461098785 | RP1 | c.2046T>C (p.Asn682=) c.787+3640T>C (n.787+3640T>C) c.2067T>C (p.Asn689=) | gnomAD v4 |
| 8 | g.54625928T>G | CA370992607 | RP1 | c.2046T>G (p.Asn682Lys) c.787+3640T>G (n.787+3640T>G) c.2067T>G (p.Asn689Lys) | |
| 8 | g.54625929T>A | CA370992608 | RP1 | c.2047T>A (p.Ser683Thr) c.787+3641T>A (n.787+3641T>A) c.2068T>A (p.Ser690Thr) | ClinVar dbSNP |
| 8 | g.54625929T>C | CA370992610 | RP1 | c.2047T>C (p.Ser683Pro) c.787+3641T>C (n.787+3641T>C) c.2068T>C (p.Ser690Pro) | |
| 8 | g.54625929T>G | CA370992609 | RP1 | c.2047T>G (p.Ser683Ala) c.787+3641T>G (n.787+3641T>G) c.2068T>G (p.Ser690Ala) | |
| 8 | g.54625930C>A | CA370992611 | RP1 | c.2048C>A (p.Ser683Tyr) c.787+3642C>A (n.787+3642C>A) c.2069C>A (p.Ser690Tyr) | gnomAD v4 |
| 8 | g.54625930C>G | CA370992612 | RP1 | c.2048C>G (p.Ser683Cys) c.787+3642C>G (n.787+3642C>G) c.2069C>G (p.Ser690Cys) | |
| 8 | g.54625930C>T | CA370992613 | RP1 | c.2048C>T (p.Ser683Phe) c.787+3642C>T (n.787+3642C>T) c.2069C>T (p.Ser690Phe) | COSMIC |
| 8 | g.54625931C>A | CA461098788 | RP1 | c.2049C>A (p.Ser683=) c.787+3643C>A (n.787+3643C>A) c.2070C>A (p.Ser690=) | |
| 8 | g.54625931C= | CA1785188091 | RP1 | c.2049C= (p.Ser683=) c.787+3643C= (n.787+3643C=) c.2070C= (p.Ser690=) | |
| 8 | g.54625931C>G | CA461098786 | RP1 | c.2049C>G (p.Ser683=) c.787+3643C>G (n.787+3643C>G) c.2070C>G (p.Ser690=) | |
| 8 | g.54625931C>T | CA461098787 | RP1 | c.2049C>T (p.Ser683=) c.787+3643C>T (n.787+3643C>T) c.2070C>T (p.Ser690=) | dbSNP gnomAD v4 |
| 8 | g.54625932A= | CA1785188092 | RP1 | c.2050A= (p.Arg684=) c.787+3644A= (n.787+3644A=) c.2071A= (p.Arg691=) | |
| 8 | g.54625932A>C | CA461098789 | RP1 | c.2050A>C (p.Arg684=) c.787+3644A>C (n.787+3644A>C) c.2071A>C (p.Arg691=) | |
| 8 | g.54625932A>G | CA370992614 | RP1 | c.2050A>G (p.Arg684Gly) c.787+3644A>G (n.787+3644A>G) c.2071A>G (p.Arg691Gly) | |
| 8 | g.54625932A>T | CA370992615 | RP1 | c.2050A>T (p.Arg684Trp) c.787+3644A>T (n.787+3644A>T) c.2071A>T (p.Arg691Trp) | dbSNP |
| 8 | g.54625933G>A | CA370992616 | RP1 | c.2051G>A (p.Arg684Lys) c.787+3645G>A (n.787+3645G>A) c.2072G>A (p.Arg691Lys) | |
| 8 | g.54625933G>C | CA370992617 | RP1 | c.2051G>C (p.Arg684Thr) c.787+3645G>C (n.787+3645G>C) c.2072G>C (p.Arg691Thr) | gnomAD v4 |
| 8 | g.54625933G>T | CA370992618 | RP1 | c.2051G>T (p.Arg684Met) c.787+3645G>T (n.787+3645G>T) c.2072G>T (p.Arg691Met) | |
| 8 | g.54625934G>A | CA461098790 | RP1 | c.2052G>A (p.Arg684=) c.787+3646G>A (n.787+3646G>A) c.2073G>A (p.Arg691=) | |
| 8 | g.54625934G>C | CA370992619 | RP1 | c.2052G>C (p.Arg684Ser) c.787+3646G>C (n.787+3646G>C) c.2073G>C (p.Arg691Ser) | |
| 8 | g.54625934G>T | CA370992620 | RP1 | c.2052G>T (p.Arg684Ser) c.787+3646G>T (n.787+3646G>T) c.2073G>T (p.Arg691Ser) | |
| 8 | g.54625935del | CA2580078491 | RP1 | c.2053del (p.Tyr685IlefsTer18) c.787+3647del (n.787+3647del) c.2074del (p.Tyr692IlefsTer18) | ClinVar |
| 8 | g.54625935T>A | CA370992621 | RP1 | c.2053T>A (p.Tyr685Asn) c.787+3647T>A (n.787+3647T>A) c.2074T>A (p.Tyr692Asn) | |
| 8 | g.54625935T>C | CA370992622 | RP1 | c.2053T>C (p.Tyr685His) c.787+3647T>C (n.787+3647T>C) c.2074T>C (p.Tyr692His) | |
| 8 | g.54625935T>G | CA370992623 | RP1 | c.2053T>G (p.Tyr685Asp) c.787+3647T>G (n.787+3647T>G) c.2074T>G (p.Tyr692Asp) | |
| 8 | g.54625936A>C | CA370992624 | RP1 | c.2054A>C (p.Tyr685Ser) c.787+3648A>C (n.787+3648A>C) c.2075A>C (p.Tyr692Ser) | |
| 8 | g.54625936A>G | CA370992626 | RP1 | c.2054A>G (p.Tyr685Cys) c.787+3648A>G (n.787+3648A>G) c.2075A>G (p.Tyr692Cys) | |
| 8 | g.54625936A>T | CA370992625 | RP1 | c.2054A>T (p.Tyr685Phe) c.787+3648A>T (n.787+3648A>T) c.2075A>T (p.Tyr692Phe) | |
| 8 | g.54625937T>A | CA370992627 | RP1 | c.2055T>A (p.Tyr685Ter) c.787+3649T>A (n.787+3649T>A) c.2076T>A (p.Tyr692Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54625937T>C | CA461098791 | RP1 | c.2055T>C (p.Tyr685=) c.787+3649T>C (n.787+3649T>C) c.2076T>C (p.Tyr692=) | |
| 8 | g.54625937T>G | CA370992628 | RP1 | c.2055T>G (p.Tyr685Ter) c.787+3649T>G (n.787+3649T>G) c.2076T>G (p.Tyr692Ter) | ClinVar dbSNP |
| 8 | g.54625937T= | CA1785188093 | RP1 | c.2055T= (p.Tyr685=) c.787+3649T= (n.787+3649T=) c.2076T= (p.Tyr692=) | |
| 8 | g.54625938C>A | CA370992629 | RP1 | c.2056C>A (p.Gln686Lys) c.787+3650C>A (n.787+3650C>A) c.2077C>A (p.Gln693Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54625938C= | CA1785188094 | RP1 | c.2056C= (p.Gln686=) c.787+3650C= (n.787+3650C=) c.2077C= (p.Gln693=) | |
| 8 | g.54625938C>G | CA370992630 | RP1 | c.2056C>G (p.Gln686Glu) c.787+3650C>G (n.787+3650C>G) c.2077C>G (p.Gln693Glu) | |
| 8 | g.54625938C>T | CA370992631 | RP1 | c.2056C>T (p.Gln686Ter) c.787+3650C>T (n.787+3650C>T) c.2077C>T (p.Gln693Ter) | ClinVar dbSNP |