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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.63721512T>A | CA364384582 | EYS,PHF3 | c.*7804T>A (n.*7804T>A) c.8519A>T (p.Glu2840Val) c.8582A>T (p.Glu2861Val) c.363+10150T>A | |
| 6 | g.63721512T>C | CA364384583 | EYS,PHF3 | c.*7804T>C (n.*7804T>C) c.8519A>G (p.Glu2840Gly) c.8582A>G (p.Glu2861Gly) c.363+10150T>C | ClinVar dbSNP |
| 6 | g.63721512T>G | CA364384584 | EYS,PHF3 | c.*7804T>G (n.*7804T>G) c.8519A>C (p.Glu2840Ala) c.8582A>C (p.Glu2861Ala) c.363+10150T>G | |
| 6 | g.63721512T= | CA1633381957 | EYS,PHF3 | c.*7804T= (n.*7804T=) c.8519A= (p.Glu2840=) c.8582A= (p.Glu2861=) c.363+10150T= | |
| 6 | g.63721513C>A | CA364384587 | EYS,PHF3 | c.*7805C>A (n.*7805C>A) c.8518G>T (p.Glu2840Ter) c.8581G>T (p.Glu2861Ter) c.363+10151C>A | gnomAD v4 |
| 6 | g.63721513C= | CA1633381960 | EYS,PHF3 | c.*7805C= (n.*7805C=) c.8518G= (p.Glu2840=) c.8581G= (p.Glu2861=) c.363+10151C= | |
| 6 | g.63721513C>G | CA364384585 | EYS,PHF3 | c.*7805C>G (n.*7805C>G) c.8518G>C (p.Glu2840Gln) c.8581G>C (p.Glu2861Gln) c.363+10151C>G | |
| 6 | g.63721513C>T | CA364384586 | EYS,PHF3 | c.*7805C>T (n.*7805C>T) c.8518G>A (p.Glu2840Lys) c.8581G>A (p.Glu2861Lys) c.363+10151C>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63721514A= | CA1633381962 | EYS,PHF3 | c.*7806A= (n.*7806A=) c.8517T= (p.Asn2839=) c.8580T= (p.Asn2860=) c.363+10152A= | |
| 6 | g.63721514A>C | CA364384588 | EYS,PHF3 | c.*7806A>C (n.*7806A>C) c.8517T>G (p.Asn2839Lys) c.8580T>G (p.Asn2860Lys) c.363+10152A>C | gnomAD v4 |
| 6 | g.63721514A>G | CA450862325 | EYS,PHF3 | c.*7806A>G (n.*7806A>G) c.8517T>C (p.Asn2839=) c.8580T>C (p.Asn2860=) c.363+10152A>G | |
| 6 | g.63721514A>T | CA364384589 | EYS,PHF3 | c.*7806A>T (n.*7806A>T) c.8517T>A (p.Asn2839Lys) c.8580T>A (p.Asn2860Lys) c.363+10152A>T | |
| 6 | g.63721515T>A | CA364384590 | EYS,PHF3 | c.*7807T>A (n.*7807T>A) c.8516A>T (p.Asn2839Ile) c.8579A>T (p.Asn2860Ile) c.363+10153T>A | |
| 6 | g.63721515T>C | CA364384591 | EYS,PHF3 | c.*7807T>C (n.*7807T>C) c.8516A>G (p.Asn2839Ser) c.8579A>G (p.Asn2860Ser) c.363+10153T>C | |
| 6 | g.63721515T>G | CA364384592 | EYS,PHF3 | c.*7807T>G (n.*7807T>G) c.8516A>C (p.Asn2839Thr) c.8579A>C (p.Asn2860Thr) c.363+10153T>G | |
| 6 | g.63721518dup | CA826970702 | EYS,PHF3 | c.*7810dup (n.*7810dup) c.8516dup (p.Asn2839LysfsTer2) c.8579dup (p.Asn2860LysfsTer2) c.363+10156dup | ClinVar dbSNP |
| 6 | g.63721518del | CA2556484116 | EYS,PHF3 | c.*7810del (n.*7810del) c.8516del (p.Asn2839MetfsTer4) c.8579del (p.Asn2860MetfsTer4) c.363+10156del | |
| 6 | g.63721516T>A | CA364384595 | EYS,PHF3 | c.*7808T>A (n.*7808T>A) c.8515A>T (p.Asn2839Tyr) c.8578A>T (p.Asn2860Tyr) c.363+10154T>A | |
| 6 | g.63721516T>C | CA364384593 | EYS,PHF3 | c.*7808T>C (n.*7808T>C) c.8515A>G (p.Asn2839Asp) c.8578A>G (p.Asn2860Asp) c.363+10154T>C | |
| 6 | g.63721516T>G | CA364384594 | EYS,PHF3 | c.*7808T>G (n.*7808T>G) c.8515A>C (p.Asn2839His) c.8578A>C (p.Asn2860His) c.363+10154T>G | |
| 6 | g.63721517T>A | CA364384596 | EYS,PHF3 | c.*7809T>A (n.*7809T>A) c.8514A>T (p.Glu2838Asp) c.8577A>T (p.Glu2859Asp) c.363+10155T>A | |
| 6 | g.63721517T>C | CA450862327 | EYS,PHF3 | c.*7809T>C (n.*7809T>C) c.8514A>G (p.Glu2838=) c.8577A>G (p.Glu2859=) c.363+10155T>C | |
| 6 | g.63721517T>G | CA364384597 | EYS,PHF3 | c.*7809T>G (n.*7809T>G) c.8514A>C (p.Glu2838Asp) c.8577A>C (p.Glu2859Asp) c.363+10155T>G | |
| 6 | g.63721518T>A | CA364384598 | EYS,PHF3 | c.*7810T>A (n.*7810T>A) c.8513A>T (p.Glu2838Val) c.8576A>T (p.Glu2859Val) c.363+10156T>A | |
| 6 | g.63721518T>C | CA364384599 | EYS,PHF3 | c.*7810T>C (n.*7810T>C) c.8513A>G (p.Glu2838Gly) c.8576A>G (p.Glu2859Gly) c.363+10156T>C | |
| 6 | g.63721518T>G | CA364384600 | EYS,PHF3 | c.*7810T>G (n.*7810T>G) c.8513A>C (p.Glu2838Ala) c.8576A>C (p.Glu2859Ala) c.363+10156T>G | |
| 6 | g.63721519C>A | CA364384601 | EYS,PHF3 | c.*7811C>A (n.*7811C>A) c.8512G>T (p.Glu2838Ter) c.8575G>T (p.Glu2859Ter) c.363+10157C>A | |
| 6 | g.63721519C>G | CA364384602 | EYS,PHF3 | c.*7811C>G (n.*7811C>G) c.8512G>C (p.Glu2838Gln) c.8575G>C (p.Glu2859Gln) c.363+10157C>G | gnomAD v4 |
| 6 | g.63721519C>T | CA364384603 | EYS,PHF3 | c.*7811C>T (n.*7811C>T) c.8512G>A (p.Glu2838Lys) c.8575G>A (p.Glu2859Lys) c.363+10157C>T | |
| 6 | g.63721520T>A | CA450862330 | EYS,PHF3 | c.*7812T>A (n.*7812T>A) c.8511A>T (p.Ile2837=) c.8574A>T (p.Ile2858=) c.363+10158T>A | |
| 6 | g.63721520T>C | CA364384604 | EYS,PHF3 | c.*7812T>C (n.*7812T>C) c.8511A>G (p.Ile2837Met) c.8574A>G (p.Ile2858Met) c.363+10158T>C | |
| 6 | g.63721520T>G | CA450862332 | EYS,PHF3 | c.*7812T>G (n.*7812T>G) c.8511A>C (p.Ile2837=) c.8574A>C (p.Ile2858=) c.363+10158T>G | |
| 6 | g.63721521A= | CA1633381965 | EYS,PHF3 | c.*7813A= (n.*7813A=) c.8510T= (p.Ile2837=) c.8573T= (p.Ile2858=) c.363+10159A= | |
| 6 | g.63721521A>C | CA364384605 | EYS,PHF3 | c.*7813A>C (n.*7813A>C) c.8510T>G (p.Ile2837Arg) c.8573T>G (p.Ile2858Arg) c.363+10159A>C | |
| 6 | g.63721521A>G | CA3876705 | EYS,PHF3 | c.*7813A>G (n.*7813A>G) c.8510T>C (p.Ile2837Thr) c.8573T>C (p.Ile2858Thr) c.363+10159A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63721521A>T | CA364384606 | EYS,PHF3 | c.*7813A>T (n.*7813A>T) c.8510T>A (p.Ile2837Lys) c.8573T>A (p.Ile2858Lys) c.363+10159A>T | |
| 6 | g.63721522T>A | CA364384607 | EYS,PHF3 | c.*7814T>A (n.*7814T>A) c.8509A>T (p.Ile2837Leu) c.8572A>T (p.Ile2858Leu) c.363+10160T>A | |
| 6 | g.63721522T>C | CA364384608 | EYS,PHF3 | c.*7814T>C (n.*7814T>C) c.8509A>G (p.Ile2837Val) c.8572A>G (p.Ile2858Val) c.363+10160T>C | |
| 6 | g.63721522T>G | CA364384609 | EYS,PHF3 | c.*7814T>G (n.*7814T>G) c.8509A>C (p.Ile2837Leu) c.8572A>C (p.Ile2858Leu) c.363+10160T>G | |
| 6 | g.63721523T>A | CA450862334 | EYS,PHF3 | c.*7815T>A (n.*7815T>A) c.8508A>T (p.Ala2836=) c.8571A>T (p.Ala2857=) c.363+10161T>A | |
| 6 | g.63721523T>C | CA450862335 | EYS,PHF3 | c.*7815T>C (n.*7815T>C) c.8508A>G (p.Ala2836=) c.8571A>G (p.Ala2857=) c.363+10161T>C | |
| 6 | g.63721523T>G | CA450862333 | EYS,PHF3 | c.*7815T>G (n.*7815T>G) c.8508A>C (p.Ala2836=) c.8571A>C (p.Ala2857=) c.363+10161T>G | |
| 6 | g.63721524G>A | CA364384610 | EYS,PHF3 | c.*7816G>A (n.*7816G>A) c.8507C>T (p.Ala2836Val) c.8570C>T (p.Ala2857Val) c.363+10162G>A | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63721524G>C | CA364384612 | EYS,PHF3 | c.*7816G>C (n.*7816G>C) c.8507C>G (p.Ala2836Gly) c.8570C>G (p.Ala2857Gly) c.363+10162G>C | |
| 6 | g.63721524G= | CA1633381967 | EYS,PHF3 | c.*7816G= (n.*7816G=) c.8507C= (p.Ala2836=) c.8570C= (p.Ala2857=) c.363+10162G= | |
| 6 | g.63721524G>T | CA364384611 | EYS,PHF3 | c.*7816G>T (n.*7816G>T) c.8507C>A (p.Ala2836Glu) c.8570C>A (p.Ala2857Glu) c.363+10162G>T | |
| 6 | g.63721525C>A | CA364384613 | EYS,PHF3 | c.*7817C>A (n.*7817C>A) c.8506G>T (p.Ala2836Ser) c.8569G>T (p.Ala2857Ser) c.363+10163C>A | |
| 6 | g.63721525C>G | CA364384614 | EYS,PHF3 | c.*7817C>G (n.*7817C>G) c.8506G>C (p.Ala2836Pro) c.8569G>C (p.Ala2857Pro) c.363+10163C>G | |
| 6 | g.63721525C>T | CA364384615 | EYS,PHF3 | c.*7817C>T (n.*7817C>T) c.8506G>A (p.Ala2836Thr) c.8569G>A (p.Ala2857Thr) c.363+10163C>T | |
| 6 | g.63721526C>A | CA364384616 | EYS,PHF3 | c.*7818C>A (n.*7818C>A) c.8505G>T (p.Met2835Ile) c.8568G>T (p.Met2856Ile) c.363+10164C>A | |
| 6 | g.63721526C= | CA1633381969 | EYS,PHF3 | c.*7818C= (n.*7818C=) c.8505G= (p.Met2835=) c.8568G= (p.Met2856=) c.363+10164C= | |
| 6 | g.63721526C>G | CA364384617 | EYS,PHF3 | c.*7818C>G (n.*7818C>G) c.8505G>C (p.Met2835Ile) c.8568G>C (p.Met2856Ile) c.363+10164C>G | |
| 6 | g.63721526C>T | CA364384618 | EYS,PHF3 | c.*7818C>T (n.*7818C>T) c.8505G>A (p.Met2835Ile) c.8568G>A (p.Met2856Ile) c.363+10164C>T | dbSNP |
| 6 | g.63721527A= | CA1633381970 | EYS,PHF3 | c.*7819A= (n.*7819A=) c.8504T= (p.Met2835=) c.8567T= (p.Met2856=) c.363+10165A= | |
| 6 | g.63721527A>C | CA364384619 | EYS,PHF3 | c.*7819A>C (n.*7819A>C) c.8504T>G (p.Met2835Arg) c.8567T>G (p.Met2856Arg) c.363+10165A>C | |
| 6 | g.63721527A>G | CA364384620 | EYS,PHF3 | c.*7819A>G (n.*7819A>G) c.8504T>C (p.Met2835Thr) c.8567T>C (p.Met2856Thr) c.363+10165A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63721527A>T | CA364384621 | EYS,PHF3 | c.*7819A>T (n.*7819A>T) c.8504T>A (p.Met2835Lys) c.8567T>A (p.Met2856Lys) c.363+10165A>T | |
| 6 | g.63721528T>A | CA364384622 | EYS,PHF3 | c.*7820T>A (n.*7820T>A) c.8503A>T (p.Met2835Leu) c.8566A>T (p.Met2856Leu) c.363+10166T>A | |
| 6 | g.63721528T>C | CA364384623 | EYS,PHF3 | c.*7820T>C (n.*7820T>C) c.8503A>G (p.Met2835Val) c.8566A>G (p.Met2856Val) c.363+10166T>C | |
| 6 | g.63721528T>G | CA364384624 | EYS,PHF3 | c.*7820T>G (n.*7820T>G) c.8503A>C (p.Met2835Leu) c.8566A>C (p.Met2856Leu) c.363+10166T>G | |
| 6 | g.63721529G>A | CA450862339 | EYS,PHF3 | c.*7821G>A (n.*7821G>A) c.8502C>T (p.Pro2834=) c.8565C>T (p.Pro2855=) c.363+10167G>A | |
| 6 | g.63721529G>C | CA450862340 | EYS,PHF3 | c.*7821G>C (n.*7821G>C) c.8502C>G (p.Pro2834=) c.8565C>G (p.Pro2855=) c.363+10167G>C | |
| 6 | g.63721529G>T | CA450862341 | EYS,PHF3 | c.*7821G>T (n.*7821G>T) c.8502C>A (p.Pro2834=) c.8565C>A (p.Pro2855=) c.363+10167G>T | |
| 6 | g.63721530G>A | CA364384627 | EYS,PHF3 | c.*7822G>A (n.*7822G>A) c.8501C>T (p.Pro2834Leu) c.8564C>T (p.Pro2855Leu) c.363+10168G>A | ClinVar dbSNP |
| 6 | g.63721530G>C | CA364384625 | EYS,PHF3 | c.*7822G>C (n.*7822G>C) c.8501C>G (p.Pro2834Arg) c.8564C>G (p.Pro2855Arg) c.363+10168G>C | |
| 6 | g.63721530G>T | CA364384626 | EYS,PHF3 | c.*7822G>T (n.*7822G>T) c.8501C>A (p.Pro2834His) c.8564C>A (p.Pro2855His) c.363+10168G>T | |
| 6 | g.63721531G>A | CA140236847 | EYS,PHF3 | c.*7823G>A (n.*7823G>A) c.8500C>T (p.Pro2834Ser) c.8563C>T (p.Pro2855Ser) c.363+10169G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63721531G>C | CA364384628 | EYS,PHF3 | c.*7823G>C (n.*7823G>C) c.8500C>G (p.Pro2834Ala) c.8563C>G (p.Pro2855Ala) c.363+10169G>C | |
| 6 | g.63721531G= | CA1633381972 | EYS,PHF3 | c.*7823G= (n.*7823G=) c.8500C= (p.Pro2834=) c.8563C= (p.Pro2855=) c.363+10169G= | |
| 6 | g.63721531G>T | CA364384629 | EYS,PHF3 | c.*7823G>T (n.*7823G>T) c.8500C>A (p.Pro2834Thr) c.8563C>A (p.Pro2855Thr) c.363+10169G>T | |
| 6 | g.63721532A= | CA1633381974 | EYS,PHF3 | c.*7824A= (n.*7824A=) c.8499T= (p.Asn2833=) c.8562T= (p.Asn2854=) c.363+10170A= | |
| 6 | g.63721532A>C | CA364384630 | EYS,PHF3 | c.*7824A>C (n.*7824A>C) c.8499T>G (p.Asn2833Lys) c.8562T>G (p.Asn2854Lys) c.363+10170A>C | |
| 6 | g.63721532A>G | CA450862345 | EYS,PHF3 | c.*7824A>G (n.*7824A>G) c.8499T>C (p.Asn2833=) c.8562T>C (p.Asn2854=) c.363+10170A>G | |
| 6 | g.63721532A>T | CA364384631 | EYS,PHF3 | c.*7824A>T (n.*7824A>T) c.8499T>A (p.Asn2833Lys) c.8562T>A (p.Asn2854Lys) c.363+10170A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63721533T>A | CA364384634 | EYS,PHF3 | c.*7825T>A (n.*7825T>A) c.8498A>T (p.Asn2833Ile) c.8561A>T (p.Asn2854Ile) c.363+10171T>A | |
| 6 | g.63721533T>C | CA364384633 | EYS,PHF3 | c.*7825T>C (n.*7825T>C) c.8498A>G (p.Asn2833Ser) c.8561A>G (p.Asn2854Ser) c.363+10171T>C | gnomAD v4 |
| 6 | g.63721533T>G | CA364384632 | EYS,PHF3 | c.*7825T>G (n.*7825T>G) c.8498A>C (p.Asn2833Thr) c.8561A>C (p.Asn2854Thr) c.363+10171T>G | |
| 6 | g.63721534T>A | CA364384635 | EYS,PHF3 | c.*7826T>A (n.*7826T>A) c.8497A>T (p.Asn2833Tyr) c.8560A>T (p.Asn2854Tyr) c.363+10172T>A | |
| 6 | g.63721534T>C | CA364384636 | EYS,PHF3 | c.*7826T>C (n.*7826T>C) c.8497A>G (p.Asn2833Asp) c.8560A>G (p.Asn2854Asp) c.363+10172T>C | |
| 6 | g.63721534T>G | CA364384637 | EYS,PHF3 | c.*7826T>G (n.*7826T>G) c.8497A>C (p.Asn2833His) c.8560A>C (p.Asn2854His) c.363+10172T>G | |
| 6 | g.63721535T>A | CA450862347 | EYS,PHF3 | c.*7827T>A (n.*7827T>A) c.8496A>T (p.Val2832=) c.8559A>T (p.Val2853=) c.363+10173T>A | |
| 6 | g.63721535T>C | CA450862348 | EYS,PHF3 | c.*7827T>C (n.*7827T>C) c.8496A>G (p.Val2832=) c.8559A>G (p.Val2853=) c.363+10173T>C | |
| 6 | g.63721535T>G | CA450862349 | EYS,PHF3 | c.*7827T>G (n.*7827T>G) c.8496A>C (p.Val2832=) c.8559A>C (p.Val2853=) c.363+10173T>G | |
| 6 | g.63721536A= | CA1633381976 | EYS,PHF3 | c.*7828A= (n.*7828A=) c.8495T= (p.Val2832=) c.8558T= (p.Val2853=) c.363+10174A= | |
| 6 | g.63721536A>C | CA364384638 | EYS,PHF3 | c.*7828A>C (n.*7828A>C) c.8495T>G (p.Val2832Gly) c.8558T>G (p.Val2853Gly) c.363+10174A>C | |
| 6 | g.63721536A>G | CA364384639 | EYS,PHF3 | c.*7828A>G (n.*7828A>G) c.8495T>C (p.Val2832Ala) c.8558T>C (p.Val2853Ala) c.363+10174A>G | gnomAD v4 |
| 6 | g.63721536A>T | CA140236848 | EYS,PHF3 | c.*7828A>T (n.*7828A>T) c.8495T>A (p.Val2832Glu) c.8558T>A (p.Val2853Glu) c.363+10174A>T | dbSNP |
| 6 | g.63721537C>A | CA364384640 | EYS,PHF3 | c.*7829C>A (n.*7829C>A) c.8494G>T (p.Val2832Leu) c.8557G>T (p.Val2853Leu) c.363+10175C>A | |
| 6 | g.63721537C= | CA1633381978 | EYS,PHF3 | c.*7829C= (n.*7829C=) c.8494G= (p.Val2832=) c.8557G= (p.Val2853=) c.363+10175C= | |
| 6 | g.63721537C>G | CA364384642 | EYS,PHF3 | c.*7829C>G (n.*7829C>G) c.8494G>C (p.Val2832Leu) c.8557G>C (p.Val2853Leu) c.363+10175C>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63721537C>T | CA364384641 | EYS,PHF3 | c.*7829C>T (n.*7829C>T) c.8494G>A (p.Val2832Ile) c.8557G>A (p.Val2853Ile) c.363+10175C>T | |
| 6 | g.63721538A>C | CA450862354 | EYS,PHF3 | c.*7830A>C (n.*7830A>C) c.8493T>G (p.Leu2831=) c.8556T>G (p.Leu2852=) c.363+10176A>C | |
| 6 | g.63721538A>G | CA450862355 | EYS,PHF3 | c.*7830A>G (n.*7830A>G) c.8493T>C (p.Leu2831=) c.8556T>C (p.Leu2852=) c.363+10176A>G | |
| 6 | g.63721538A>T | CA450862353 | EYS,PHF3 | c.*7830A>T (n.*7830A>T) c.8493T>A (p.Leu2831=) c.8556T>A (p.Leu2852=) c.363+10176A>T | |
| 6 | g.63721539A>C | CA364384643 | EYS,PHF3 | c.*7831A>C (n.*7831A>C) c.8492T>G (p.Leu2831Arg) c.8555T>G (p.Leu2852Arg) c.363+10177A>C | |
| 6 | g.63721539A>G | CA364384644 | EYS,PHF3 | c.*7831A>G (n.*7831A>G) c.8492T>C (p.Leu2831Pro) c.8555T>C (p.Leu2852Pro) c.363+10177A>G | |
| 6 | g.63721539A>T | CA364384645 | EYS,PHF3 | c.*7831A>T (n.*7831A>T) c.8492T>A (p.Leu2831His) c.8555T>A (p.Leu2852His) c.363+10177A>T | |
| 6 | g.63721540G>A | CA364384646 | EYS,PHF3 | c.*7832G>A (n.*7832G>A) c.8491C>T (p.Leu2831Phe) c.8554C>T (p.Leu2852Phe) c.363+10178G>A | |
| 6 | g.63721540G>C | CA364384647 | EYS,PHF3 | c.*7832G>C (n.*7832G>C) c.8491C>G (p.Leu2831Val) c.8554C>G (p.Leu2852Val) c.363+10178G>C | |
| 6 | g.63721540G>T | CA364384648 | EYS,PHF3 | c.*7832G>T (n.*7832G>T) c.8491C>A (p.Leu2831Ile) c.8554C>A (p.Leu2852Ile) c.363+10178G>T | |
| 6 | g.63721541A= | CA1633381980 | EYS,PHF3 | c.*7833A= (n.*7833A=) c.8490T= (p.Asn2830=) c.8553T= (p.Asn2851=) c.363+10179A= | |
| 6 | g.63721541A>C | CA364384649 | EYS,PHF3 | c.*7833A>C (n.*7833A>C) c.8490T>G (p.Asn2830Lys) c.8553T>G (p.Asn2851Lys) c.363+10179A>C | |
| 6 | g.63721541A>G | CA450862357 | EYS,PHF3 | c.*7833A>G (n.*7833A>G) c.8490T>C (p.Asn2830=) c.8553T>C (p.Asn2851=) c.363+10179A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63721541A>T | CA364384650 | EYS,PHF3 | c.*7833A>T (n.*7833A>T) c.8490T>A (p.Asn2830Lys) c.8553T>A (p.Asn2851Lys) c.363+10179A>T | |
| 6 | g.63721542T>A | CA364384651 | EYS,PHF3 | c.*7834T>A (n.*7834T>A) c.8489A>T (p.Asn2830Ile) c.8552A>T (p.Asn2851Ile) c.363+10180T>A | |
| 6 | g.63721542T>C | CA364384652 | EYS,PHF3 | c.*7834T>C (n.*7834T>C) c.8489A>G (p.Asn2830Ser) c.8552A>G (p.Asn2851Ser) c.363+10180T>C | dbSNP |
| 6 | g.63721542T>G | CA364384653 | EYS,PHF3 | c.*7834T>G (n.*7834T>G) c.8489A>C (p.Asn2830Thr) c.8552A>C (p.Asn2851Thr) c.363+10180T>G | |
| 6 | g.63721542T= | CA1633381982 | EYS,PHF3 | c.*7834T= (n.*7834T=) c.8489A= (p.Asn2830=) c.8552A= (p.Asn2851=) c.363+10180T= | |
| 6 | g.63721543T>A | CA364384654 | EYS,PHF3 | c.*7835T>A (n.*7835T>A) c.8488A>T (p.Asn2830Tyr) c.8551A>T (p.Asn2851Tyr) c.363+10181T>A | |
| 6 | g.63721543T>C | CA364384655 | EYS,PHF3 | c.*7835T>C (n.*7835T>C) c.8488A>G (p.Asn2830Asp) c.8551A>G (p.Asn2851Asp) c.363+10181T>C | |
| 6 | g.63721543T>G | CA140236849 | EYS,PHF3 | c.*7835T>G (n.*7835T>G) c.8488A>C (p.Asn2830His) c.8551A>C (p.Asn2851His) c.363+10181T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63721543T= | CA1633381984 | EYS,PHF3 | c.*7835T= (n.*7835T=) c.8488A= (p.Asn2830=) c.8551A= (p.Asn2851=) c.363+10181T= | |
| 6 | g.63721544T>A | CA364384656 | EYS,PHF3 | c.*7836T>A (n.*7836T>A) c.8487A>T (p.Leu2829Phe) c.8550A>T (p.Leu2850Phe) c.363+10182T>A | |
| 6 | g.63721544T>C | CA140236850 | EYS,PHF3 | c.*7836T>C (n.*7836T>C) c.8487A>G (p.Leu2829=) c.8550A>G (p.Leu2850=) c.363+10182T>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63721544T>G | CA364384658 | EYS,PHF3 | c.*7836T>G (n.*7836T>G) c.8487A>C (p.Leu2829Phe) c.8550A>C (p.Leu2850Phe) c.363+10182T>G | |
| 6 | g.63721544T= | CA1633381986 | EYS,PHF3 | c.*7836T= (n.*7836T=) c.8487A= (p.Leu2829=) c.8550A= (p.Leu2850=) c.363+10182T= | |
| 6 | g.63721544_63721546del | CA2771457328 | EYS,PHF3 | c.*7836_*7838del (n.*7836_*7838del) c.8485_8487del (p.Leu2829del) c.8548_8550del (p.Leu2850del) c.363+10182_363+10184del | |
| 6 | g.63721545A>C | CA364384660 | EYS,PHF3 | c.*7837A>C (n.*7837A>C) c.8486T>G (p.Leu2829Ter) c.8549T>G (p.Leu2850Ter) c.363+10183A>C | |
| 6 | g.63721545A>G | CA364384663 | EYS,PHF3 | c.*7837A>G (n.*7837A>G) c.8486T>C (p.Leu2829Ser) c.8549T>C (p.Leu2850Ser) c.363+10183A>G | gnomAD v4 |
| 6 | g.63721545A>T | CA364384662 | EYS,PHF3 | c.*7837A>T (n.*7837A>T) c.8486T>A (p.Leu2829Ter) c.8549T>A (p.Leu2850Ter) c.363+10183A>T | |
| 6 | g.63721545_63721548delinsAAAG | CA1633381988 | EYS,PHF3 | c.*7837_*7840delinsAAAG (n.*7837_*7840delinsAAAG) c.8483_8486delinsCTTT (p.Ser2828=) c.8546_8549delinsCTTT (p.Ser2849=) c.363+10183_363+10186delinsAAAG | |
| 6 | g.63721545_63721546insT | CA2679279894 | EYS,PHF3 | c.*7837_*7838insT (n.*7837_*7838insT) c.8485_8486insA (p.Leu2829TyrfsTer12) c.8548_8549insA (p.Leu2850TyrfsTer12) c.363+10183_363+10184insT | gnomAD v4 |
| 6 | g.63721546A>C | CA364384665 | EYS,PHF3 | c.*7838A>C (n.*7838A>C) c.8485T>G (p.Leu2829Val) c.8548T>G (p.Leu2850Val) c.363+10184A>C | |
| 6 | g.63721546A>G | CA450862362 | EYS,PHF3 | c.*7838A>G (n.*7838A>G) c.8485T>C (p.Leu2829=) c.8548T>C (p.Leu2850=) c.363+10184A>G | |
| 6 | g.63721546A>T | CA364384667 | EYS,PHF3 | c.*7838A>T (n.*7838A>T) c.8485T>A (p.Leu2829Ile) c.8548T>A (p.Leu2850Ile) c.363+10184A>T | |
| 6 | g.63721550_63721552del | CA916082857 | EYS,PHF3 | c.*7842_*7844del (n.*7842_*7844del) c.8483_8485del (p.Ser2828del) c.8546_8548del (p.Ser2849del) c.363+10188_363+10190del | ClinVar dbSNP gnomAD v4 |
| 6 | g.63721547A>C | CA450862363 | EYS,PHF3 | c.*7839A>C (n.*7839A>C) c.8484T>G (p.Ser2828=) c.8547T>G (p.Ser2849=) c.363+10185A>C | |
| 6 | g.63721547A>G | CA450862365 | EYS,PHF3 | c.*7839A>G (n.*7839A>G) c.8484T>C (p.Ser2828=) c.8547T>C (p.Ser2849=) c.363+10185A>G | |
| 6 | g.63721547A>T | CA450862364 | EYS,PHF3 | c.*7839A>T (n.*7839A>T) c.8484T>A (p.Ser2828=) c.8547T>A (p.Ser2849=) c.363+10185A>T | |
| 6 | g.63721548G>A | CA364384669 | EYS,PHF3 | c.*7840G>A (n.*7840G>A) c.8483C>T (p.Ser2828Phe) c.8546C>T (p.Ser2849Phe) c.363+10186G>A | |
| 6 | g.63721548G>C | CA364384670 | EYS,PHF3 | c.*7840G>C (n.*7840G>C) c.8483C>G (p.Ser2828Cys) c.8546C>G (p.Ser2849Cys) c.363+10186G>C | |
| 6 | g.63721548G>T | CA364384671 | EYS,PHF3 | c.*7840G>T (n.*7840G>T) c.8483C>A (p.Ser2828Tyr) c.8546C>A (p.Ser2849Tyr) c.363+10186G>T | |
| 6 | g.63721548_63721549delinsGA | CA1633381991 | EYS,PHF3 | c.*7840_*7841delinsGA (n.*7840_*7841delinsGA) c.8482_8483delinsTC (p.Ser2828=) c.8545_8546delinsTC (p.Ser2849=) c.363+10186_363+10187delinsGA | |
| 6 | g.63721549A= | CA1633381993 | EYS,PHF3 | c.*7841A= (n.*7841A=) c.8482T= (p.Ser2828=) c.8545T= (p.Ser2849=) c.363+10187A= | |
| 6 | g.63721549A>C | CA364384674 | EYS,PHF3 | c.*7841A>C (n.*7841A>C) c.8482T>G (p.Ser2828Ala) c.8545T>G (p.Ser2849Ala) c.363+10187A>C | |
| 6 | g.63721549A>G | CA364384676 | EYS,PHF3 | c.*7841A>G (n.*7841A>G) c.8482T>C (p.Ser2828Pro) c.8545T>C (p.Ser2849Pro) c.363+10187A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63721549A>T | CA364384677 | EYS,PHF3 | c.*7841A>T (n.*7841A>T) c.8482T>A (p.Ser2828Thr) c.8545T>A (p.Ser2849Thr) c.363+10187A>T | |
| 6 | g.63721550del | CA3876706 | EYS,PHF3 | c.*7842del (n.*7842del) c.8482del (p.Ser2828LeufsTer2) c.8545del (p.Ser2849LeufsTer2) c.363+10188del | dbSNP ExAC |
| 6 | g.63721549_63721550insCC | CA2771457329 | EYS,PHF3 | c.*7841_*7842insCC (n.*7841_*7842insCC) c.8481_8482insGG (p.Ser2828GlyfsTer3) c.8544_8545insGG (p.Ser2849GlyfsTer3) c.363+10187_363+10188insCC | |
| 6 | g.63721550A= | CA1633381995 | EYS,PHF3 | c.*7842A= (n.*7842A=) c.8481T= (p.Ser2827=) c.8544T= (p.Ser2848=) c.363+10188A= | |
| 6 | g.63721550A>C | CA450862368 | EYS,PHF3 | c.*7842A>C (n.*7842A>C) c.8481T>G (p.Ser2827=) c.8544T>G (p.Ser2848=) c.363+10188A>C | dbSNP gnomAD v4 |
| 6 | g.63721550A>G | CA450862369 | EYS,PHF3 | c.*7842A>G (n.*7842A>G) c.8481T>C (p.Ser2827=) c.8544T>C (p.Ser2848=) c.363+10188A>G | |
| 6 | g.63721550A>T | CA450862370 | EYS,PHF3 | c.*7842A>T (n.*7842A>T) c.8481T>A (p.Ser2827=) c.8544T>A (p.Ser2848=) c.363+10188A>T | |
| 6 | g.63721551G>A | CA364384680 | EYS,PHF3 | c.*7843G>A (n.*7843G>A) c.8480C>T (p.Ser2827Phe) c.8543C>T (p.Ser2848Phe) c.363+10189G>A | dbSNP |
| 6 | g.63721551G>C | CA364384681 | EYS,PHF3 | c.*7843G>C (n.*7843G>C) c.8480C>G (p.Ser2827Cys) c.8543C>G (p.Ser2848Cys) c.363+10189G>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63721551G= | CA1633381997 | EYS,PHF3 | c.*7843G= (n.*7843G=) c.8480C= (p.Ser2827=) c.8543C= (p.Ser2848=) c.363+10189G= | |
| 6 | g.63721551G>T | CA364384683 | EYS,PHF3 | c.*7843G>T (n.*7843G>T) c.8480C>A (p.Ser2827Tyr) c.8543C>A (p.Ser2848Tyr) c.363+10189G>T | |
| 6 | g.63721552A= | CA1633381999 | EYS,PHF3 | c.*7844A= (n.*7844A=) c.8479T= (p.Ser2827=) c.8542T= (p.Ser2848=) c.363+10190A= | |
| 6 | g.63721552A>C | CA364384685 | EYS,PHF3 | c.*7844A>C (n.*7844A>C) c.8479T>G (p.Ser2827Ala) c.8542T>G (p.Ser2848Ala) c.363+10190A>C | |
| 6 | g.63721552A>G | CA364384688 | EYS,PHF3 | c.*7844A>G (n.*7844A>G) c.8479T>C (p.Ser2827Pro) c.8542T>C (p.Ser2848Pro) c.363+10190A>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63721552A>T | CA364384687 | EYS,PHF3 | c.*7844A>T (n.*7844A>T) c.8479T>A (p.Ser2827Thr) c.8542T>A (p.Ser2848Thr) c.363+10190A>T | |
| 6 | g.63721553T>A | CA450862372 | EYS,PHF3 | c.*7845T>A (n.*7845T>A) c.8478A>T (p.Val2826=) c.8541A>T (p.Val2847=) c.363+10191T>A | |
| 6 | g.63721553T>C | CA450862373 | EYS,PHF3 | c.*7845T>C (n.*7845T>C) c.8478A>G (p.Val2826=) c.8541A>G (p.Val2847=) c.363+10191T>C | ClinVar gnomAD v4 |
| 6 | g.63721553T>G | CA450862375 | EYS,PHF3 | c.*7845T>G (n.*7845T>G) c.8478A>C (p.Val2826=) c.8541A>C (p.Val2847=) c.363+10191T>G | |
| 6 | g.63721553T= | CA1633382001 | EYS,PHF3 | c.*7845T= (n.*7845T=) c.8478A= (p.Val2826=) c.8541A= (p.Val2847=) c.363+10191T= | |
| 6 | g.63721554A= | CA1633382003 | EYS,PHF3 | c.*7846A= (n.*7846A=) c.8477T= (p.Val2826=) c.8540T= (p.Val2847=) c.363+10192A= | |
| 6 | g.63721554A>C | CA364384689 | EYS,PHF3 | c.*7846A>C (n.*7846A>C) c.8477T>G (p.Val2826Gly) c.8540T>G (p.Val2847Gly) c.363+10192A>C | |
| 6 | g.63721554A>G | CA140236851 | EYS,PHF3 | c.*7846A>G (n.*7846A>G) c.8477T>C (p.Val2826Ala) c.8540T>C (p.Val2847Ala) c.363+10192A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63721554A>T | CA364384692 | EYS,PHF3 | c.*7846A>T (n.*7846A>T) c.8477T>A (p.Val2826Glu) c.8540T>A (p.Val2847Glu) c.363+10192A>T | |
| 6 | g.63721554dup | CA826970791 | EYS,PHF3 | c.*7846dup (n.*7846dup) c.8477dup (p.Ser2827IlefsTer14) c.8540dup (p.Ser2848IlefsTer14) c.363+10192dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63721555C>A | CA140236852 | EYS,PHF3 | c.*7847C>A (n.*7847C>A) c.8476G>T (p.Val2826Leu) c.8539G>T (p.Val2847Leu) c.363+10193C>A | ClinVar dbSNP gnomAD v4 |
| 6 | g.63721555C= | CA1633382006 | EYS,PHF3 | c.*7847C= (n.*7847C=) c.8476G= (p.Val2826=) c.8539G= (p.Val2847=) c.363+10193C= | |
| 6 | g.63721555C>G | CA364384694 | EYS,PHF3 | c.*7847C>G (n.*7847C>G) c.8476G>C (p.Val2826Leu) c.8539G>C (p.Val2847Leu) c.363+10193C>G | |
| 6 | g.63721555C>T | CA364384696 | EYS,PHF3 | c.*7847C>T (n.*7847C>T) c.8476G>A (p.Val2826Ile) c.8539G>A (p.Val2847Ile) c.363+10193C>T | dbSNP gnomAD v4 |
| 6 | g.63721555dup | CA2679279895 | EYS,PHF3 | c.*7847dup (n.*7847dup) c.8476dup (p.Val2826GlyfsTer15) c.8539dup (p.Val2847GlyfsTer15) c.363+10193dup | gnomAD v4 |
| 6 | g.63721556T>A | CA450862382 | EYS,PHF3 | c.*7848T>A (n.*7848T>A) c.8475A>T (p.Gly2825=) c.8538A>T (p.Gly2846=) c.363+10194T>A | ClinVar |
| 6 | g.63721556T>C | CA450862381 | EYS,PHF3 | c.*7848T>C (n.*7848T>C) c.8475A>G (p.Gly2825=) c.8538A>G (p.Gly2846=) c.363+10194T>C | |
| 6 | g.63721556T>G | CA450862379 | EYS,PHF3 | c.*7848T>G (n.*7848T>G) c.8475A>C (p.Gly2825=) c.8538A>C (p.Gly2846=) c.363+10194T>G | |
| 6 | g.63721557C>A | CA364384698 | EYS,PHF3 | c.*7849C>A (n.*7849C>A) c.8474G>T (p.Gly2825Val) c.8537G>T (p.Gly2846Val) c.363+10195C>A | ClinVar |
| 6 | g.63721557C>G | CA364384699 | EYS,PHF3 | c.*7849C>G (n.*7849C>G) c.8474G>C (p.Gly2825Ala) c.8537G>C (p.Gly2846Ala) c.363+10195C>G | |
| 6 | g.63721557C>T | CA364384701 | EYS,PHF3 | c.*7849C>T (n.*7849C>T) c.8474G>A (p.Gly2825Glu) c.8537G>A (p.Gly2846Glu) c.363+10195C>T | |
| 6 | g.63721557_63721558insA | CA2695206721 | EYS,PHF3 | c.*7849_*7850insA (n.*7849_*7850insA) c.8473_8474insT (p.Gly2825ValfsTer16) c.8536_8537insT (p.Gly2846ValfsTer16) c.363+10195_363+10196insA | |
| 6 | g.63721558C>A | CA364384705 | EYS,PHF3 | c.*7850C>A (n.*7850C>A) c.8473G>T (p.Gly2825Ter) c.8536G>T (p.Gly2846Ter) c.363+10196C>A | |
| 6 | g.63721558C>G | CA364384706 | EYS,PHF3 | c.*7850C>G (n.*7850C>G) c.8473G>C (p.Gly2825Arg) c.8536G>C (p.Gly2846Arg) c.363+10196C>G | |
| 6 | g.63721558C>T | CA364384703 | EYS,PHF3 | c.*7850C>T (n.*7850C>T) c.8473G>A (p.Gly2825Arg) c.8536G>A (p.Gly2846Arg) c.363+10196C>T | gnomAD v4 COSMIC |
| 6 | g.63721559_63721560del | CA2771457330 | EYS,PHF3 | c.*7851_*7852del (n.*7851_*7852del) c.8472_8473del (p.Gly2825SerfsTer15) c.8535_8536del (p.Gly2846SerfsTer15) c.363+10197_363+10198del | |
| 6 | g.63721559T>A | CA450862384 | EYS,PHF3 | c.*7851T>A (n.*7851T>A) c.8472A>T (p.Gly2824=) c.8535A>T (p.Gly2845=) c.363+10197T>A | |
| 6 | g.63721559T>C | CA450862385 | EYS,PHF3 | c.*7851T>C (n.*7851T>C) c.8472A>G (p.Gly2824=) c.8535A>G (p.Gly2845=) c.363+10197T>C | |
| 6 | g.63721559T>G | CA450862386 | EYS,PHF3 | c.*7851T>G (n.*7851T>G) c.8472A>C (p.Gly2824=) c.8535A>C (p.Gly2845=) c.363+10197T>G | gnomAD v4 |
| 6 | g.63721560C>A | CA364384708 | EYS,PHF3 | c.*7852C>A (n.*7852C>A) c.8471G>T (p.Gly2824Val) c.8534G>T (p.Gly2845Val) c.363+10198C>A | |
| 6 | g.63721560C= | CA1633382008 | EYS,PHF3 | c.*7852C= (n.*7852C=) c.8471G= (p.Gly2824=) c.8534G= (p.Gly2845=) c.363+10198C= | |
| 6 | g.63721560C>G | CA364384709 | EYS,PHF3 | c.*7852C>G (n.*7852C>G) c.8471G>C (p.Gly2824Ala) c.8534G>C (p.Gly2845Ala) c.363+10198C>G | |
| 6 | g.63721560C>T | CA364384711 | EYS,PHF3 | c.*7852C>T (n.*7852C>T) c.8471G>A (p.Gly2824Glu) c.8534G>A (p.Gly2845Glu) c.363+10198C>T | dbSNP |
| 6 | g.63721561C>A | CA364384713 | EYS,PHF3 | c.*7853C>A (n.*7853C>A) c.8470G>T (p.Gly2824Ter) c.8533G>T (p.Gly2845Ter) c.363+10199C>A | |
| 6 | g.63721561C>G | CA364384714 | EYS,PHF3 | c.*7853C>G (n.*7853C>G) c.8470G>C (p.Gly2824Arg) c.8533G>C (p.Gly2845Arg) c.363+10199C>G | |
| 6 | g.63721561C>T | CA364384716 | EYS,PHF3 | c.*7853C>T (n.*7853C>T) c.8470G>A (p.Gly2824Arg) c.8533G>A (p.Gly2845Arg) c.363+10199C>T | |
| 6 | g.63721562A>C | CA364384718 | EYS,PHF3 | c.*7854A>C (n.*7854A>C) c.8469T>G (p.Ile2823Met) c.8532T>G (p.Ile2844Met) c.363+10200A>C | ClinVar |
| 6 | g.63721562A>G | CA450862387 | EYS,PHF3 | c.*7854A>G (n.*7854A>G) c.8469T>C (p.Ile2823=) c.8532T>C (p.Ile2844=) c.363+10200A>G | |
| 6 | g.63721562A>T | CA450862388 | EYS,PHF3 | c.*7854A>T (n.*7854A>T) c.8469T>A (p.Ile2823=) c.8532T>A (p.Ile2844=) c.363+10200A>T | |
| 6 | g.63721563A= | CA1633382010 | EYS,PHF3 | c.*7855A= (n.*7855A=) c.8468T= (p.Ile2823=) c.8531T= (p.Ile2844=) c.363+10201A= | |
| 6 | g.63721563A>C | CA364384719 | EYS,PHF3 | c.*7855A>C (n.*7855A>C) c.8468T>G (p.Ile2823Ser) c.8531T>G (p.Ile2844Ser) c.363+10201A>C | |
| 6 | g.63721563A>G | CA3876707 | EYS,PHF3 | c.*7855A>G (n.*7855A>G) c.8468T>C (p.Ile2823Thr) c.8531T>C (p.Ile2844Thr) c.363+10201A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63721563A>T | CA364384720 | EYS,PHF3 | c.*7855A>T (n.*7855A>T) c.8468T>A (p.Ile2823Asn) c.8531T>A (p.Ile2844Asn) c.363+10201A>T | |
| 6 | g.63721564T>A | CA364384721 | EYS,PHF3 | c.*7856T>A (n.*7856T>A) c.8467A>T (p.Ile2823Phe) c.8530A>T (p.Ile2844Phe) c.363+10202T>A | |
| 6 | g.63721564T>C | CA364384722 | EYS,PHF3 | c.*7856T>C (n.*7856T>C) c.8467A>G (p.Ile2823Val) c.8530A>G (p.Ile2844Val) c.363+10202T>C | |
| 6 | g.63721564T>G | CA364384724 | EYS,PHF3 | c.*7856T>G (n.*7856T>G) c.8467A>C (p.Ile2823Leu) c.8530A>C (p.Ile2844Leu) c.363+10202T>G | |
| 6 | g.63721565A>C | CA364384737 | EYS,PHF3 | c.*7857A>C (n.*7857A>C) c.8466T>G (p.Tyr2822Ter) c.8529T>G (p.Tyr2843Ter) c.363+10203A>C | |
| 6 | g.63721565A>G | CA450862392 | EYS,PHF3 | c.*7857A>G (n.*7857A>G) c.8466T>C (p.Tyr2822=) c.8529T>C (p.Tyr2843=) c.363+10203A>G | gnomAD v4 |
| 6 | g.63721565A>T | CA364384735 | EYS,PHF3 | c.*7857A>T (n.*7857A>T) c.8466T>A (p.Tyr2822Ter) c.8529T>A (p.Tyr2843Ter) c.363+10203A>T | |
| 6 | g.63721566T>A | CA364384739 | EYS,PHF3 | c.*7858T>A (n.*7858T>A) c.8465A>T (p.Tyr2822Phe) c.8528A>T (p.Tyr2843Phe) c.363+10204T>A | |
| 6 | g.63721566T>C | CA364384740 | EYS,PHF3 | c.*7858T>C (n.*7858T>C) c.8465A>G (p.Tyr2822Cys) c.8528A>G (p.Tyr2843Cys) c.363+10204T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63721566T>G | CA364384742 | EYS,PHF3 | c.*7858T>G (n.*7858T>G) c.8465A>C (p.Tyr2822Ser) c.8528A>C (p.Tyr2843Ser) c.363+10204T>G | |
| 6 | g.63721566T= | CA1633382012 | EYS,PHF3 | c.*7858T= (n.*7858T=) c.8465A= (p.Tyr2822=) c.8528A= (p.Tyr2843=) c.363+10204T= | |
| 6 | g.63721567A>C | CA364384743 | EYS,PHF3 | c.*7859A>C (n.*7859A>C) c.8464T>G (p.Tyr2822Asp) c.8527T>G (p.Tyr2843Asp) c.363+10205A>C | |
| 6 | g.63721567A>G | CA364384745 | EYS,PHF3 | c.*7859A>G (n.*7859A>G) c.8464T>C (p.Tyr2822His) c.8527T>C (p.Tyr2843His) c.363+10205A>G | gnomAD v4 |
| 6 | g.63721567A>T | CA364384747 | EYS,PHF3 | c.*7859A>T (n.*7859A>T) c.8464T>A (p.Tyr2822Asn) c.8527T>A (p.Tyr2843Asn) c.363+10205A>T | |
| 6 | g.63721568G>A | CA450862394 | EYS,PHF3 | c.*7860G>A (n.*7860G>A) c.8463C>T (p.Phe2821=) c.8526C>T (p.Phe2842=) c.363+10206G>A | |
| 6 | g.63721568G>C | CA364384749 | EYS,PHF3 | c.*7860G>C (n.*7860G>C) c.8463C>G (p.Phe2821Leu) c.8526C>G (p.Phe2842Leu) c.363+10206G>C | |
| 6 | g.63721568G>T | CA364384750 | EYS,PHF3 | c.*7860G>T (n.*7860G>T) c.8463C>A (p.Phe2821Leu) c.8526C>A (p.Phe2842Leu) c.363+10206G>T | |
| 6 | g.63721569A>C | CA364384753 | EYS,PHF3 | c.*7861A>C (n.*7861A>C) c.8462T>G (p.Phe2821Cys) c.8525T>G (p.Phe2842Cys) c.363+10207A>C | |
| 6 | g.63721569A>G | CA364384755 | EYS,PHF3 | c.*7861A>G (n.*7861A>G) c.8462T>C (p.Phe2821Ser) c.8525T>C (p.Phe2842Ser) c.363+10207A>G | |
| 6 | g.63721569A>T | CA364384756 | EYS,PHF3 | c.*7861A>T (n.*7861A>T) c.8462T>A (p.Phe2821Tyr) c.8525T>A (p.Phe2842Tyr) c.363+10207A>T | |
| 6 | g.63721570A>C | CA364384759 | EYS,PHF3 | c.*7862A>C (n.*7862A>C) c.8461T>G (p.Phe2821Val) c.8524T>G (p.Phe2842Val) c.363+10208A>C | |
| 6 | g.63721570A>G | CA364384760 | EYS,PHF3 | c.*7862A>G (n.*7862A>G) c.8461T>C (p.Phe2821Leu) c.8524T>C (p.Phe2842Leu) c.363+10208A>G | |
| 6 | g.63721570A>T | CA364384761 | EYS,PHF3 | c.*7862A>T (n.*7862A>T) c.8461T>A (p.Phe2821Ile) c.8524T>A (p.Phe2842Ile) c.363+10208A>T | |
| 6 | g.63721571G>A | CA450862398 | EYS,PHF3 | c.*7863G>A (n.*7863G>A) c.8460C>T (p.Asp2820=) c.8523C>T (p.Asp2841=) c.363+10209G>A | |
| 6 | g.63721571G>C | CA364384763 | EYS,PHF3 | c.*7863G>C (n.*7863G>C) c.8460C>G (p.Asp2820Glu) c.8523C>G (p.Asp2841Glu) c.363+10209G>C | |
| 6 | g.63721571G>T | CA364384765 | EYS,PHF3 | c.*7863G>T (n.*7863G>T) c.8460C>A (p.Asp2820Glu) c.8523C>A (p.Asp2841Glu) c.363+10209G>T | |
| 6 | g.63721572T>A | CA364384767 | EYS,PHF3 | c.*7864T>A (n.*7864T>A) c.8459A>T (p.Asp2820Val) c.8522A>T (p.Asp2841Val) c.363+10210T>A | |
| 6 | g.63721572T>C | CA364384770 | EYS,PHF3 | c.*7864T>C (n.*7864T>C) c.8459A>G (p.Asp2820Gly) c.8522A>G (p.Asp2841Gly) c.363+10210T>C | |
| 6 | g.63721572T>G | CA364384768 | EYS,PHF3 | c.*7864T>G (n.*7864T>G) c.8459A>C (p.Asp2820Ala) c.8522A>C (p.Asp2841Ala) c.363+10210T>G | |
| 6 | g.63721573C>A | CA364384772 | EYS,PHF3 | c.*7865C>A (n.*7865C>A) c.8458G>T (p.Asp2820Tyr) c.8521G>T (p.Asp2841Tyr) c.363+10211C>A | |
| 6 | g.63721573C= | CA1633382015 | EYS,PHF3 | c.*7865C= (n.*7865C=) c.8458G= (p.Asp2820=) c.8521G= (p.Asp2841=) c.363+10211C= | |
| 6 | g.63721573C>G | CA364384774 | EYS,PHF3 | c.*7865C>G (n.*7865C>G) c.8458G>C (p.Asp2820His) c.8521G>C (p.Asp2841His) c.363+10211C>G | |
| 6 | g.63721573C>T | CA364384775 | EYS,PHF3 | c.*7865C>T (n.*7865C>T) c.8458G>A (p.Asp2820Asn) c.8521G>A (p.Asp2841Asn) c.363+10211C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63721573_63721575delinsCTG | CA1633382014 | EYS,PHF3 | c.*7865_*7867delinsCTG (n.*7865_*7867delinsCTG) c.8456_8458delinsCAG (p.Thr2819=) c.8519_8521delinsCAG (p.Thr2840=) c.363+10211_363+10213delinsCTG | |
| 6 | g.63721574T>A | CA450862400 | EYS,PHF3 | c.*7866T>A (n.*7866T>A) c.8457A>T (p.Thr2819=) c.8520A>T (p.Thr2840=) c.363+10212T>A | |
| 6 | g.63721574T>C | CA140236853 | EYS,PHF3 | c.*7866T>C (n.*7866T>C) c.8457A>G (p.Thr2819=) c.8520A>G (p.Thr2840=) c.363+10212T>C | ClinVar dbSNP |
| 6 | g.63721574T>G | CA450862401 | EYS,PHF3 | c.*7866T>G (n.*7866T>G) c.8457A>C (p.Thr2819=) c.8520A>C (p.Thr2840=) c.363+10212T>G | |
| 6 | g.63721574T= | CA1633382018 | EYS,PHF3 | c.*7866T= (n.*7866T=) c.8457A= (p.Thr2819=) c.8520A= (p.Thr2840=) c.363+10212T= | |
| 6 | g.63721575_63721576del | CA1633382017 | EYS,PHF3 | c.*7867_*7868del (n.*7867_*7868del) c.8456_8457del (p.Thr2819ArgfsTer21) c.8519_8520del (p.Thr2840ArgfsTer21) c.363+10213_363+10214del | dbSNP |
| 6 | g.63721575G>A | CA364384778 | EYS,PHF3 | c.*7867G>A (n.*7867G>A) c.8456C>T (p.Thr2819Ile) c.8519C>T (p.Thr2840Ile) c.363+10213G>A | |
| 6 | g.63721575G>C | CA364384779 | EYS,PHF3 | c.*7867G>C (n.*7867G>C) c.8456C>G (p.Thr2819Arg) c.8519C>G (p.Thr2840Arg) c.363+10213G>C | |
| 6 | g.63721575G>T | CA364384780 | EYS,PHF3 | c.*7867G>T (n.*7867G>T) c.8456C>A (p.Thr2819Lys) c.8519C>A (p.Thr2840Lys) c.363+10213G>T | |
| 6 | g.63721576del | CA2695198248 | EYS,PHF3 | c.*7868del (n.*7868del) c.8455del (p.Thr2819GlnfsTer11) c.8518del (p.Thr2840GlnfsTer11) c.363+10214del | ClinVar |
| 6 | g.63721576T>A | CA364384782 | EYS,PHF3 | c.*7868T>A (n.*7868T>A) c.8455A>T (p.Thr2819Ser) c.8518A>T (p.Thr2840Ser) c.363+10214T>A | |
| 6 | g.63721576T>C | CA364384784 | EYS,PHF3 | c.*7868T>C (n.*7868T>C) c.8455A>G (p.Thr2819Ala) c.8518A>G (p.Thr2840Ala) c.363+10214T>C | |
| 6 | g.63721576T>G | CA364384786 | EYS,PHF3 | c.*7868T>G (n.*7868T>G) c.8455A>C (p.Thr2819Pro) c.8518A>C (p.Thr2840Pro) c.363+10214T>G | |
| 6 | g.63721577A>C | CA364384787 | EYS,PHF3 | c.*7869A>C (n.*7869A>C) c.8454T>G (p.Asn2818Lys) c.8517T>G (p.Asn2839Lys) c.363+10215A>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63721577A>G | CA450862403 | EYS,PHF3 | c.*7869A>G (n.*7869A>G) c.8454T>C (p.Asn2818=) c.8517T>C (p.Asn2839=) c.363+10215A>G | gnomAD v4 |
| 6 | g.63721577A>T | CA364384788 | EYS,PHF3 | c.*7869A>T (n.*7869A>T) c.8454T>A (p.Asn2818Lys) c.8517T>A (p.Asn2839Lys) c.363+10215A>T | |
| 6 | g.63721577_63721578delinsAT | CA1633382020 | EYS,PHF3 | c.*7869_*7870delinsAT (n.*7869_*7870delinsAT) c.8453_8454delinsAT (p.Asn2818=) c.8516_8517delinsAT (p.Asn2839=) c.363+10215_363+10216delinsAT | |
| 6 | g.63721578T>A | CA364384792 | EYS,PHF3 | c.*7870T>A (n.*7870T>A) c.8453A>T (p.Asn2818Ile) c.8516A>T (p.Asn2839Ile) c.363+10216T>A | |
| 6 | g.63721578T>C | CA364384790 | EYS,PHF3 | c.*7870T>C (n.*7870T>C) c.8453A>G (p.Asn2818Ser) c.8516A>G (p.Asn2839Ser) c.363+10216T>C | |
| 6 | g.63721578T>G | CA364384791 | EYS,PHF3 | c.*7870T>G (n.*7870T>G) c.8453A>C (p.Asn2818Thr) c.8516A>C (p.Asn2839Thr) c.363+10216T>G | |
| 6 | g.63721580del | CA1089784964 | EYS,PHF3 | c.*7872del (n.*7872del) c.8453del (p.Asn2818IlefsTer12) c.8516del (p.Asn2839IlefsTer12) c.363+10218del | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63721579T>A | CA364384794 | EYS,PHF3 | c.*7871T>A (n.*7871T>A) c.8452A>T (p.Asn2818Tyr) c.8515A>T (p.Asn2839Tyr) c.363+10217T>A | gnomAD v4 |
| 6 | g.63721579T>C | CA364384796 | EYS,PHF3 | c.*7871T>C (n.*7871T>C) c.8452A>G (p.Asn2818Asp) c.8515A>G (p.Asn2839Asp) c.363+10217T>C | |
| 6 | g.63721579T>G | CA364384797 | EYS,PHF3 | c.*7871T>G (n.*7871T>G) c.8452A>C (p.Asn2818His) c.8515A>C (p.Asn2839His) c.363+10217T>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63721579T= | CA1633382023 | EYS,PHF3 | c.*7871T= (n.*7871T=) c.8452A= (p.Asn2818=) c.8515A= (p.Asn2839=) c.363+10217T= | |
| 6 | g.63721580T>A | CA450862408 | EYS,PHF3 | c.*7872T>A (n.*7872T>A) c.8451A>T (p.Thr2817=) c.8514A>T (p.Thr2838=) c.363+10218T>A | |
| 6 | g.63721580T>C | CA450862406 | EYS,PHF3 | c.*7872T>C (n.*7872T>C) c.8451A>G (p.Thr2817=) c.8514A>G (p.Thr2838=) c.363+10218T>C | |
| 6 | g.63721580T>G | CA450862407 | EYS,PHF3 | c.*7872T>G (n.*7872T>G) c.8451A>C (p.Thr2817=) c.8514A>C (p.Thr2838=) c.363+10218T>G | |
| 6 | g.63721581G>A | CA364384799 | EYS,PHF3 | c.*7873G>A (n.*7873G>A) c.8450C>T (p.Thr2817Ile) c.8513C>T (p.Thr2838Ile) c.363+10219G>A | |
| 6 | g.63721581G>C | CA364384801 | EYS,PHF3 | c.*7873G>C (n.*7873G>C) c.8450C>G (p.Thr2817Arg) c.8513C>G (p.Thr2838Arg) c.363+10219G>C | |
| 6 | g.63721581G>T | CA364384802 | EYS,PHF3 | c.*7873G>T (n.*7873G>T) c.8450C>A (p.Thr2817Lys) c.8513C>A (p.Thr2838Lys) c.363+10219G>T | |
| 6 | g.63721582T>A | CA364384804 | EYS,PHF3 | c.*7874T>A (n.*7874T>A) c.8449A>T (p.Thr2817Ser) c.8512A>T (p.Thr2838Ser) c.363+10220T>A | |
| 6 | g.63721582T>C | CA364384805 | EYS,PHF3 | c.*7874T>C (n.*7874T>C) c.8449A>G (p.Thr2817Ala) c.8512A>G (p.Thr2838Ala) c.363+10220T>C | |
| 6 | g.63721582T>G | CA364384806 | EYS,PHF3 | c.*7874T>G (n.*7874T>G) c.8449A>C (p.Thr2817Pro) c.8512A>C (p.Thr2838Pro) c.363+10220T>G | |
| 6 | g.63721583G>A | CA450862412 | EYS,PHF3 | c.*7875G>A (n.*7875G>A) c.8448C>T (p.Asp2816=) c.8511C>T (p.Asp2837=) c.363+10221G>A | |
| 6 | g.63721583G>C | CA364384809 | EYS,PHF3 | c.*7875G>C (n.*7875G>C) c.8448C>G (p.Asp2816Glu) c.8511C>G (p.Asp2837Glu) c.363+10221G>C | |
| 6 | g.63721583G>T | CA364384811 | EYS,PHF3 | c.*7875G>T (n.*7875G>T) c.8448C>A (p.Asp2816Glu) c.8511C>A (p.Asp2837Glu) c.363+10221G>T | gnomAD v4 |
| 6 | g.63721584del | CA2838767969 | EYS,PHF3 | c.*7876del (n.*7876del) c.8447del (p.Asp2816AlafsTer14) c.8510del (p.Asp2837AlafsTer14) c.363+10222del | |
| 6 | g.63721584T>A | CA364384813 | EYS,PHF3 | c.*7876T>A (n.*7876T>A) c.8447A>T (p.Asp2816Val) c.8510A>T (p.Asp2837Val) c.363+10222T>A | |
| 6 | g.63721584T>C | CA364384815 | EYS,PHF3 | c.*7876T>C (n.*7876T>C) c.8447A>G (p.Asp2816Gly) c.8510A>G (p.Asp2837Gly) c.363+10222T>C | |
| 6 | g.63721584T>G | CA364384812 | EYS,PHF3 | c.*7876T>G (n.*7876T>G) c.8447A>C (p.Asp2816Ala) c.8510A>C (p.Asp2837Ala) c.363+10222T>G | |
| 6 | g.63721585C>A | CA364384817 | EYS,PHF3 | c.*7877C>A (n.*7877C>A) c.8446G>T (p.Asp2816Tyr) c.8509G>T (p.Asp2837Tyr) c.363+10223C>A | |
| 6 | g.63721585C= | CA1633382025 | EYS,PHF3 | c.*7877C= (n.*7877C=) c.8446G= (p.Asp2816=) c.8509G= (p.Asp2837=) c.363+10223C= | |
| 6 | g.63721585C>G | CA3876708 | EYS,PHF3 | c.*7877C>G (n.*7877C>G) c.8446G>C (p.Asp2816His) c.8509G>C (p.Asp2837His) c.363+10223C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63721585C>T | CA364384818 | EYS,PHF3 | c.*7877C>T (n.*7877C>T) c.8446G>A (p.Asp2816Asn) c.8509G>A (p.Asp2837Asn) c.363+10223C>T | gnomAD v4 |
| 6 | g.63721586C>A | CA450862417 | EYS,PHF3 | c.*7878C>A (n.*7878C>A) c.8445G>T (p.Leu2815=) c.8508G>T (p.Leu2836=) c.363+10224C>A | ClinVar dbSNP |
| 6 | g.63721586C= | CA1633382027 | EYS,PHF3 | c.*7878C= (n.*7878C=) c.8445G= (p.Leu2815=) c.8508G= (p.Leu2836=) c.363+10224C= | |
| 6 | g.63721586C>G | CA450862416 | EYS,PHF3 | c.*7878C>G (n.*7878C>G) c.8445G>C (p.Leu2815=) c.8508G>C (p.Leu2836=) c.363+10224C>G | |
| 6 | g.63721586C>T | CA140236854 | EYS,PHF3 | c.*7878C>T (n.*7878C>T) c.8445G>A (p.Leu2815=) c.8508G>A (p.Leu2836=) c.363+10224C>T | dbSNP |
| 6 | g.63721587A>C | CA364384820 | EYS,PHF3 | c.*7879A>C (n.*7879A>C) c.8444T>G (p.Leu2815Arg) c.8507T>G (p.Leu2836Arg) c.363+10225A>C | |
| 6 | g.63721587A>G | CA364384822 | EYS,PHF3 | c.*7879A>G (n.*7879A>G) c.8444T>C (p.Leu2815Pro) c.8507T>C (p.Leu2836Pro) c.363+10225A>G | |
| 6 | g.63721587A>T | CA364384824 | EYS,PHF3 | c.*7879A>T (n.*7879A>T) c.8444T>A (p.Leu2815Gln) c.8507T>A (p.Leu2836Gln) c.363+10225A>T | |
| 6 | g.63721588G>A | CA450862421 | EYS,PHF3 | c.*7880G>A (n.*7880G>A) c.8443C>T (p.Leu2815=) c.8506C>T (p.Leu2836=) c.363+10226G>A | gnomAD v4 |
| 6 | g.63721588G>C | CA364384826 | EYS,PHF3 | c.*7880G>C (n.*7880G>C) c.8443C>G (p.Leu2815Val) c.8506C>G (p.Leu2836Val) c.363+10226G>C | |
| 6 | g.63721588G>T | CA364384827 | EYS,PHF3 | c.*7880G>T (n.*7880G>T) c.8443C>A (p.Leu2815Met) c.8506C>A (p.Leu2836Met) c.363+10226G>T | |
| 6 | g.63721589A>C | CA450862422 | EYS,PHF3 | c.*7881A>C (n.*7881A>C) c.8442T>G (p.Ser2814=) c.8505T>G (p.Ser2835=) c.363+10227A>C | |
| 6 | g.63721589A>G | CA450862423 | EYS,PHF3 | c.*7881A>G (n.*7881A>G) c.8442T>C (p.Ser2814=) c.8505T>C (p.Ser2835=) c.363+10227A>G | |
| 6 | g.63721589A>T | CA450862424 | EYS,PHF3 | c.*7881A>T (n.*7881A>T) c.8442T>A (p.Ser2814=) c.8505T>A (p.Ser2835=) c.363+10227A>T | |
| 6 | g.63721590G>A | CA364384829 | EYS,PHF3 | c.*7882G>A (n.*7882G>A) c.8441C>T (p.Ser2814Phe) c.8504C>T (p.Ser2835Phe) c.363+10228G>A | ClinVar dbSNP |
| 6 | g.63721590G>C | CA364384830 | EYS,PHF3 | c.*7882G>C (n.*7882G>C) c.8441C>G (p.Ser2814Cys) c.8504C>G (p.Ser2835Cys) c.363+10228G>C | |
| 6 | g.63721590G= | CA1633382029 | EYS,PHF3 | c.*7882G= (n.*7882G=) c.8441C= (p.Ser2814=) c.8504C= (p.Ser2835=) c.363+10228G= | |
| 6 | g.63721590G>T | CA364384831 | EYS,PHF3 | c.*7882G>T (n.*7882G>T) c.8441C>A (p.Ser2814Tyr) c.8504C>A (p.Ser2835Tyr) c.363+10228G>T | ClinVar gnomAD v4 |
| 6 | g.63721591A>C | CA364384834 | EYS,PHF3 | c.*7883A>C (n.*7883A>C) c.8440T>G (p.Ser2814Ala) c.8503T>G (p.Ser2835Ala) c.363+10229A>C | |
| 6 | g.63721591A>G | CA364384836 | EYS,PHF3 | c.*7883A>G (n.*7883A>G) c.8440T>C (p.Ser2814Pro) c.8503T>C (p.Ser2835Pro) c.363+10229A>G | |
| 6 | g.63721591A>T | CA364384832 | EYS,PHF3 | c.*7883A>T (n.*7883A>T) c.8440T>A (p.Ser2814Thr) c.8503T>A (p.Ser2835Thr) c.363+10229A>T | |
| 6 | g.63721592A>C | CA364384838 | EYS,PHF3 | c.*7884A>C (n.*7884A>C) c.8439T>G (p.Ser2813Arg) c.8502T>G (p.Ser2834Arg) c.363+10230A>C | |
| 6 | g.63721592A>G | CA450862426 | EYS,PHF3 | c.*7884A>G (n.*7884A>G) c.8439T>C (p.Ser2813=) c.8502T>C (p.Ser2834=) c.363+10230A>G | ClinVar |
| 6 | g.63721592A>T | CA364384840 | EYS,PHF3 | c.*7884A>T (n.*7884A>T) c.8439T>A (p.Ser2813Arg) c.8502T>A (p.Ser2834Arg) c.363+10230A>T | gnomAD v4 |
| 6 | g.63721593C>A | CA364384843 | EYS,PHF3 | c.*7885C>A (n.*7885C>A) c.8438G>T (p.Ser2813Ile) c.8501G>T (p.Ser2834Ile) c.363+10231C>A | |
| 6 | g.63721593C>G | CA364384844 | EYS,PHF3 | c.*7885C>G (n.*7885C>G) c.8438G>C (p.Ser2813Thr) c.8501G>C (p.Ser2834Thr) c.363+10231C>G | |
| 6 | g.63721593C>T | CA364384846 | EYS,PHF3 | c.*7885C>T (n.*7885C>T) c.8438G>A (p.Ser2813Asn) c.8501G>A (p.Ser2834Asn) c.363+10231C>T | gnomAD v4 COSMIC |
| 6 | g.63721594T>A | CA364384852 | EYS,PHF3 | c.*7886T>A (n.*7886T>A) c.8437A>T (p.Ser2813Cys) c.8500A>T (p.Ser2834Cys) c.363+10232T>A | |
| 6 | g.63721594T>C | CA364384850 | EYS,PHF3 | c.*7886T>C (n.*7886T>C) c.8437A>G (p.Ser2813Gly) c.8500A>G (p.Ser2834Gly) c.363+10232T>C | |
| 6 | g.63721594T>G | CA364384849 | EYS,PHF3 | c.*7886T>G (n.*7886T>G) c.8437A>C (p.Ser2813Arg) c.8500A>C (p.Ser2834Arg) c.363+10232T>G | |
| 6 | g.63721595C>A | CA364384853 | EYS,PHF3 | c.*7887C>A (n.*7887C>A) c.8436G>T (p.Met2812Ile) c.8499G>T (p.Met2833Ile) c.363+10233C>A | COSMIC |
| 6 | g.63721595C>G | CA364384855 | EYS,PHF3 | c.*7887C>G (n.*7887C>G) c.8436G>C (p.Met2812Ile) c.8499G>C (p.Met2833Ile) c.363+10233C>G | |
| 6 | g.63721595C>T | CA364384856 | EYS,PHF3 | c.*7887C>T (n.*7887C>T) c.8436G>A (p.Met2812Ile) c.8499G>A (p.Met2833Ile) c.363+10233C>T | |
| 6 | g.63721596A>C | CA364384858 | EYS,PHF3 | c.*7888A>C (n.*7888A>C) c.8435T>G (p.Met2812Arg) c.8498T>G (p.Met2833Arg) c.363+10234A>C | gnomAD v4 |
| 6 | g.63721596A>G | CA364384860 | EYS,PHF3 | c.*7888A>G (n.*7888A>G) c.8435T>C (p.Met2812Thr) c.8498T>C (p.Met2833Thr) c.363+10234A>G | |
| 6 | g.63721596A>T | CA364384861 | EYS,PHF3 | c.*7888A>T (n.*7888A>T) c.8435T>A (p.Met2812Lys) c.8498T>A (p.Met2833Lys) c.363+10234A>T | |
| 6 | g.63721597T>A | CA364384863 | EYS,PHF3 | c.*7889T>A (n.*7889T>A) c.8434A>T (p.Met2812Leu) c.8497A>T (p.Met2833Leu) c.363+10235T>A | |
| 6 | g.63721597T>C | CA364384866 | EYS,PHF3 | c.*7889T>C (n.*7889T>C) c.8434A>G (p.Met2812Val) c.8497A>G (p.Met2833Val) c.363+10235T>C | |
| 6 | g.63721597T>G | CA364384865 | EYS,PHF3 | c.*7889T>G (n.*7889T>G) c.8434A>C (p.Met2812Leu) c.8497A>C (p.Met2833Leu) c.363+10235T>G | |
| 6 | g.63721598T>A | CA364384868 | EYS,PHF3 | c.*7890T>A (n.*7890T>A) c.8433A>T (p.Lys2811Asn) c.8496A>T (p.Lys2832Asn) c.363+10236T>A | |
| 6 | g.63721598T>C | CA450862430 | EYS,PHF3 | c.*7890T>C (n.*7890T>C) c.8433A>G (p.Lys2811=) c.8496A>G (p.Lys2832=) c.363+10236T>C | |
| 6 | g.63721598T>G | CA364384869 | EYS,PHF3 | c.*7890T>G (n.*7890T>G) c.8433A>C (p.Lys2811Asn) c.8496A>C (p.Lys2832Asn) c.363+10236T>G | |
| 6 | g.63721599T>A | CA364384872 | EYS,PHF3 | c.*7891T>A (n.*7891T>A) c.8432A>T (p.Lys2811Ile) c.8495A>T (p.Lys2832Ile) c.363+10237T>A | ClinVar dbSNP |
| 6 | g.63721599T>C | CA364384874 | EYS,PHF3 | c.*7891T>C (n.*7891T>C) c.8432A>G (p.Lys2811Arg) c.8495A>G (p.Lys2832Arg) c.363+10237T>C | |
| 6 | g.63721599T>G | CA364384873 | EYS,PHF3 | c.*7891T>G (n.*7891T>G) c.8432A>C (p.Lys2811Thr) c.8495A>C (p.Lys2832Thr) c.363+10237T>G | |
| 6 | g.63721599T= | CA1633382031 | EYS,PHF3 | c.*7891T= (n.*7891T=) c.8432A= (p.Lys2811=) c.8495A= (p.Lys2832=) c.363+10237T= | |
| 6 | g.63721600T>A | CA364384876 | EYS,PHF3 | c.*7892T>A (n.*7892T>A) c.8431A>T (p.Lys2811Ter) c.8494A>T (p.Lys2832Ter) c.363+10238T>A | |
| 6 | g.63721600T>C | CA364384880 | EYS,PHF3 | c.*7892T>C (n.*7892T>C) c.8431A>G (p.Lys2811Glu) c.8494A>G (p.Lys2832Glu) c.363+10238T>C | |
| 6 | g.63721600T>G | CA364384878 | EYS,PHF3 | c.*7892T>G (n.*7892T>G) c.8431A>C (p.Lys2811Gln) c.8494A>C (p.Lys2832Gln) c.363+10238T>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63721600T= | CA1633382033 | EYS,PHF3 | c.*7892T= (n.*7892T=) c.8431A= (p.Lys2811=) c.8494A= (p.Lys2832=) c.363+10238T= | |
| 6 | g.63721601A>C | CA450862437 | EYS,PHF3 | c.*7893A>C (n.*7893A>C) c.8430T>G (p.Thr2810=) c.8493T>G (p.Thr2831=) c.363+10239A>C | |
| 6 | g.63721601A>G | CA450862439 | EYS,PHF3 | c.*7893A>G (n.*7893A>G) c.8430T>C (p.Thr2810=) c.8493T>C (p.Thr2831=) c.363+10239A>G | |
| 6 | g.63721601A>T | CA450862440 | EYS,PHF3 | c.*7893A>T (n.*7893A>T) c.8430T>A (p.Thr2810=) c.8493T>A (p.Thr2831=) c.363+10239A>T | |
| 6 | g.63721602G>A | CA3876709 | EYS,PHF3 | c.*7894G>A (n.*7894G>A) c.8429C>T (p.Thr2810Ile) c.8492C>T (p.Thr2831Ile) c.363+10240G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63721602G>C | CA364384883 | EYS,PHF3 | c.*7894G>C (n.*7894G>C) c.8429C>G (p.Thr2810Ser) c.8492C>G (p.Thr2831Ser) c.363+10240G>C | |
| 6 | g.63721602G= | CA1633382035 | EYS,PHF3 | c.*7894G= (n.*7894G=) c.8429C= (p.Thr2810=) c.8492C= (p.Thr2831=) c.363+10240G= | |
| 6 | g.63721602G>T | CA364384885 | EYS,PHF3 | c.*7894G>T (n.*7894G>T) c.8429C>A (p.Thr2810Asn) c.8492C>A (p.Thr2831Asn) c.363+10240G>T | |
| 6 | g.63721603T>A | CA364384887 | EYS,PHF3 | c.*7895T>A (n.*7895T>A) c.8428A>T (p.Thr2810Ser) c.8491A>T (p.Thr2831Ser) c.363+10241T>A | |
| 6 | g.63721603T>C | CA364384889 | EYS,PHF3 | c.*7895T>C (n.*7895T>C) c.8428A>G (p.Thr2810Ala) c.8491A>G (p.Thr2831Ala) c.363+10241T>C | |
| 6 | g.63721603T>G | CA364384890 | EYS,PHF3 | c.*7895T>G (n.*7895T>G) c.8428A>C (p.Thr2810Pro) c.8491A>C (p.Thr2831Pro) c.363+10241T>G | |
| 6 | g.63721604G>A | CA450862443 | EYS,PHF3 | c.*7896G>A (n.*7896G>A) c.8427C>T (p.Ser2809=) c.8490C>T (p.Ser2830=) c.363+10242G>A | |
| 6 | g.63721604G>C | CA450862445 | EYS,PHF3 | c.*7896G>C (n.*7896G>C) c.8427C>G (p.Ser2809=) c.8490C>G (p.Ser2830=) c.363+10242G>C | |
| 6 | g.63721604G>T | CA450862447 | EYS,PHF3 | c.*7896G>T (n.*7896G>T) c.8427C>A (p.Ser2809=) c.8490C>A (p.Ser2830=) c.363+10242G>T | |
| 6 | g.63721605G>A | CA364384892 | EYS,PHF3 | c.*7897G>A (n.*7897G>A) c.8426C>T (p.Ser2809Phe) c.8489C>T (p.Ser2830Phe) c.363+10243G>A | |
| 6 | g.63721605G>C | CA364384893 | EYS,PHF3 | c.*7897G>C (n.*7897G>C) c.8426C>G (p.Ser2809Cys) c.8489C>G (p.Ser2830Cys) c.363+10243G>C | |
| 6 | g.63721605G>T | CA364384895 | EYS,PHF3 | c.*7897G>T (n.*7897G>T) c.8426C>A (p.Ser2809Tyr) c.8489C>A (p.Ser2830Tyr) c.363+10243G>T | |
| 6 | g.63721606A>C | CA364384900 | EYS,PHF3 | c.*7898A>C (n.*7898A>C) c.8425T>G (p.Ser2809Ala) c.8488T>G (p.Ser2830Ala) c.363+10244A>C | |
| 6 | g.63721606A>G | CA364384898 | EYS,PHF3 | c.*7898A>G (n.*7898A>G) c.8425T>C (p.Ser2809Pro) c.8488T>C (p.Ser2830Pro) c.363+10244A>G | |
| 6 | g.63721606A>T | CA364384897 | EYS,PHF3 | c.*7898A>T (n.*7898A>T) c.8425T>A (p.Ser2809Thr) c.8488T>A (p.Ser2830Thr) c.363+10244A>T | |
| 6 | g.63721606_63721607delinsAG | CA1633382038 | EYS,PHF3 | c.*7898_*7899delinsAG (n.*7898_*7899delinsAG) c.8424_8425delinsCT (p.Ala2808=) c.8487_8488delinsCT (p.Ala2829=) c.363+10244_363+10245delinsAG | |
| 6 | g.63721607G>A | CA450862453 | EYS,PHF3 | c.*7899G>A (n.*7899G>A) c.8424C>T (p.Ala2808=) c.8487C>T (p.Ala2829=) c.363+10245G>A | ClinVar dbSNP |
| 6 | g.63721607G>C | CA450862455 | EYS,PHF3 | c.*7899G>C (n.*7899G>C) c.8424C>G (p.Ala2808=) c.8487C>G (p.Ala2829=) c.363+10245G>C | |
| 6 | g.63721607G>T | CA450862457 | EYS,PHF3 | c.*7899G>T (n.*7899G>T) c.8424C>A (p.Ala2808=) c.8487C>A (p.Ala2829=) c.363+10245G>T | |
| 6 | g.63721608del | CA916082858 | EYS,PHF3 | c.*7900del (n.*7900del) c.8424del (p.Ser2809ProfsTer4) c.8487del (p.Ser2830ProfsTer4) c.363+10246del | ClinVar dbSNP |
| 6 | g.63721608G>A | CA364384902 | EYS,PHF3 | c.*7900G>A (n.*7900G>A) c.8423C>T (p.Ala2808Val) c.8486C>T (p.Ala2829Val) c.363+10246G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63721608G>C | CA364384904 | EYS,PHF3 | c.*7900G>C (n.*7900G>C) c.8423C>G (p.Ala2808Gly) c.8486C>G (p.Ala2829Gly) c.363+10246G>C | |
| 6 | g.63721608G= | CA1633382041 | EYS,PHF3 | c.*7900G= (n.*7900G=) c.8423C= (p.Ala2808=) c.8486C= (p.Ala2829=) c.363+10246G= | |
| 6 | g.63721608G>T | CA364384905 | EYS,PHF3 | c.*7900G>T (n.*7900G>T) c.8423C>A (p.Ala2808Asp) c.8486C>A (p.Ala2829Asp) c.363+10246G>T | |
| 6 | g.63721609C>A | CA364384907 | EYS,PHF3 | c.*7901C>A (n.*7901C>A) c.8422G>T (p.Ala2808Ser) c.8485G>T (p.Ala2829Ser) c.363+10247C>A | |
| 6 | g.63721609C= | CA1633382043 | EYS,PHF3 | c.*7901C= (n.*7901C=) c.8422G= (p.Ala2808=) c.8485G= (p.Ala2829=) c.363+10247C= | |
| 6 | g.63721609C>G | CA364384909 | EYS,PHF3 | c.*7901C>G (n.*7901C>G) c.8422G>C (p.Ala2808Pro) c.8485G>C (p.Ala2829Pro) c.363+10247C>G | gnomAD v4 |
| 6 | g.63721609C>T | CA3876710 | EYS,PHF3 | c.*7901C>T (n.*7901C>T) c.8422G>A (p.Ala2808Thr) c.8485G>A (p.Ala2829Thr) c.363+10247C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63721610C>A | CA364384911 | EYS,PHF3 | c.*7902C>A (n.*7902C>A) c.8421G>T (p.Lys2807Asn) c.8484G>T (p.Lys2828Asn) c.363+10248C>A | |
| 6 | g.63721610C= | CA1633382046 | EYS,PHF3 | c.*7902C= (n.*7902C=) c.8421G= (p.Lys2807=) c.8484G= (p.Lys2828=) c.363+10248C= | |
| 6 | g.63721610C>G | CA364384912 | EYS,PHF3 | c.*7902C>G (n.*7902C>G) c.8421G>C (p.Lys2807Asn) c.8484G>C (p.Lys2828Asn) c.363+10248C>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63721610C>T | CA450862459 | EYS,PHF3 | c.*7902C>T (n.*7902C>T) c.8421G>A (p.Lys2807=) c.8484G>A (p.Lys2828=) c.363+10248C>T | dbSNP |
| 6 | g.63721611T>A | CA364384915 | EYS,PHF3 | c.*7903T>A (n.*7903T>A) c.8420A>T (p.Lys2807Met) c.8483A>T (p.Lys2828Met) c.363+10249T>A | gnomAD v4 |
| 6 | g.63721611T>C | CA364384916 | EYS,PHF3 | c.*7903T>C (n.*7903T>C) c.8420A>G (p.Lys2807Arg) c.8483A>G (p.Lys2828Arg) c.363+10249T>C | |
| 6 | g.63721611T>G | CA364384918 | EYS,PHF3 | c.*7903T>G (n.*7903T>G) c.8420A>C (p.Lys2807Thr) c.8483A>C (p.Lys2828Thr) c.363+10249T>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63721611T= | CA1633382048 | EYS,PHF3 | c.*7903T= (n.*7903T=) c.8420A= (p.Lys2807=) c.8483A= (p.Lys2828=) c.363+10249T= | |
| 6 | g.63721612T>A | CA364384920 | EYS,PHF3 | c.*7904T>A (n.*7904T>A) c.8419A>T (p.Lys2807Ter) c.8482A>T (p.Lys2828Ter) c.363+10250T>A | |
| 6 | g.63721612T>C | CA364384921 | EYS,PHF3 | c.*7904T>C (n.*7904T>C) c.8419A>G (p.Lys2807Glu) c.8482A>G (p.Lys2828Glu) c.363+10250T>C | gnomAD v4 |
| 6 | g.63721612T>G | CA364384919 | EYS,PHF3 | c.*7904T>G (n.*7904T>G) c.8419A>C (p.Lys2807Gln) c.8482A>C (p.Lys2828Gln) c.363+10250T>G |