UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.53194976C>A | CA413109601 | KDM5C | c.3393G>T (p.Glu1131Asp) c.3390G>T (p.Glu1130Asp) c.2898G>T (p.Glu966Asp) c.3270G>T (p.Glu1090Asp) c.3192G>T (p.Glu1064Asp) c.3315G>T (p.Glu1105Asp) c.2409G>T (p.Glu803Asp) n.3739G>T n.3926G>T n.3923G>T n.3803G>T n.3719G>T n.3711G>T n.3708G>T n.3588G>T | dbSNP |
| X | g.53194976C>G | CA413109603 | KDM5C | c.3393G>C (p.Glu1131Asp) c.3390G>C (p.Glu1130Asp) c.2898G>C (p.Glu966Asp) c.3270G>C (p.Glu1090Asp) c.3192G>C (p.Glu1064Asp) c.3315G>C (p.Glu1105Asp) c.2409G>C (p.Glu803Asp) n.3739G>C n.3926G>C n.3923G>C n.3803G>C n.3719G>C n.3711G>C n.3708G>C n.3588G>C | |
| X | g.53194976C>T | CA516420944 | KDM5C | c.3393G>A (p.Glu1131=) c.3390G>A (p.Glu1130=) c.2898G>A (p.Glu966=) c.3270G>A (p.Glu1090=) c.3192G>A (p.Glu1064=) c.3315G>A (p.Glu1105=) c.2409G>A (p.Glu803=) n.3739G>A n.3926G>A n.3923G>A n.3803G>A n.3719G>A n.3711G>A n.3708G>A n.3588G>A | |
| X | g.53194978_53194979del | CA915951074 | KDM5C | c.3392_3393del (p.Glu1131AlafsTer?) c.3389_3390del (p.Glu1130AlafsTer?) c.2897_2898del (p.Glu966AlafsTer?) c.3269_3270del (p.Glu1090AlafsTer?) c.3191_3192del (p.Glu1064AlafsTer?) c.3314_3315del (p.Glu1105AlafsTer?) c.2408_2409del (p.Glu803AlafsTer?) n.3738_3739del n.3925_3926del n.3922_3923del n.3802_3803del n.3718_3719del n.3710_3711del n.3707_3708del n.3587_3588del | ClinVar |
| X | g.53194977T>A | CA413109605 | KDM5C | c.3392A>T (p.Glu1131Val) c.3389A>T (p.Glu1130Val) c.2897A>T (p.Glu966Val) c.3269A>T (p.Glu1090Val) c.3191A>T (p.Glu1064Val) c.3314A>T (p.Glu1105Val) c.2408A>T (p.Glu803Val) n.3738A>T n.3925A>T n.3922A>T n.3802A>T n.3718A>T n.3710A>T n.3707A>T n.3587A>T | |
| X | g.53194977T>C | CA413109608 | KDM5C | c.3392A>G (p.Glu1131Gly) c.3389A>G (p.Glu1130Gly) c.2897A>G (p.Glu966Gly) c.3269A>G (p.Glu1090Gly) c.3191A>G (p.Glu1064Gly) c.3314A>G (p.Glu1105Gly) c.2408A>G (p.Glu803Gly) n.3738A>G n.3925A>G n.3922A>G n.3802A>G n.3718A>G n.3710A>G n.3707A>G n.3587A>G | dbSNP |
| X | g.53194977T>G | CA413109616 | KDM5C | c.3392A>C (p.Glu1131Ala) c.3389A>C (p.Glu1130Ala) c.2897A>C (p.Glu966Ala) c.3269A>C (p.Glu1090Ala) c.3191A>C (p.Glu1064Ala) c.3314A>C (p.Glu1105Ala) c.2408A>C (p.Glu803Ala) n.3738A>C n.3925A>C n.3922A>C n.3802A>C n.3718A>C n.3710A>C n.3707A>C n.3587A>C | |
| X | g.53194978del | CA645614506 | KDM5C | c.3391del (p.Glu1131SerfsTer16) c.3388del (p.Glu1130SerfsTer16) c.2896del (p.Glu966SerfsTer16) c.3268del (p.Glu1090SerfsTer16) c.3190del (p.Glu1064SerfsTer16) c.3313del (p.Glu1105SerfsTer16) c.2407del (p.Glu803SerfsTer16) n.3737del n.3924del n.3921del n.3801del n.3717del n.3709del n.3706del n.3586del | COSMIC COSMIC COSMIC |
| X | g.53194978C>A | CA413109621 | KDM5C | c.3391G>T (p.Glu1131Ter) c.3388G>T (p.Glu1130Ter) c.2896G>T (p.Glu966Ter) c.3268G>T (p.Glu1090Ter) c.3190G>T (p.Glu1064Ter) c.3313G>T (p.Glu1105Ter) c.2407G>T (p.Glu803Ter) n.3737G>T n.3924G>T n.3921G>T n.3801G>T n.3717G>T n.3709G>T n.3706G>T n.3586G>T | |
| X | g.53194978C>G | CA413109618 | KDM5C | c.3391G>C (p.Glu1131Gln) c.3388G>C (p.Glu1130Gln) c.2896G>C (p.Glu966Gln) c.3268G>C (p.Glu1090Gln) c.3190G>C (p.Glu1064Gln) c.3313G>C (p.Glu1105Gln) c.2407G>C (p.Glu803Gln) n.3737G>C n.3924G>C n.3921G>C n.3801G>C n.3717G>C n.3709G>C n.3706G>C n.3586G>C | gnomAD v4 |
| X | g.53194978C>T | CA413109620 | KDM5C | c.3391G>A (p.Glu1131Lys) c.3388G>A (p.Glu1130Lys) c.2896G>A (p.Glu966Lys) c.3268G>A (p.Glu1090Lys) c.3190G>A (p.Glu1064Lys) c.3313G>A (p.Glu1105Lys) c.2407G>A (p.Glu803Lys) n.3737G>A n.3924G>A n.3921G>A n.3801G>A n.3717G>A n.3709G>A n.3706G>A n.3586G>A | |
| X | g.53194979T>A | CA516420964 | KDM5C | c.3390A>T (p.Thr1130=) c.3387A>T (p.Thr1129=) c.2895A>T (p.Thr965=) c.3267A>T (p.Thr1089=) c.3189A>T (p.Thr1063=) c.3312A>T (p.Thr1104=) c.2406A>T (p.Thr802=) n.3736A>T n.3923A>T n.3920A>T n.3800A>T n.3716A>T n.3708A>T n.3705A>T n.3585A>T | |
| X | g.53194979T>C | CA10419237 | KDM5C | c.3390A>G (p.Thr1130=) c.3387A>G (p.Thr1129=) c.2895A>G (p.Thr965=) c.3267A>G (p.Thr1089=) c.3189A>G (p.Thr1063=) c.3312A>G (p.Thr1104=) c.2406A>G (p.Thr802=) n.3736A>G n.3923A>G n.3920A>G n.3800A>G n.3716A>G n.3708A>G n.3705A>G n.3585A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.53194979T>G | CA516420961 | KDM5C | c.3390A>C (p.Thr1130=) c.3387A>C (p.Thr1129=) c.2895A>C (p.Thr965=) c.3267A>C (p.Thr1089=) c.3189A>C (p.Thr1063=) c.3312A>C (p.Thr1104=) c.2406A>C (p.Thr802=) n.3736A>C n.3923A>C n.3920A>C n.3800A>C n.3716A>C n.3708A>C n.3705A>C n.3585A>C | |
| X | g.53194979T= | CA2429757401 | KDM5C | c.3390A= (p.Thr1130=) c.3387A= (p.Thr1129=) c.2895A= (p.Thr965=) c.3267A= (p.Thr1089=) c.3189A= (p.Thr1063=) c.3312A= (p.Thr1104=) c.2406A= (p.Thr802=) n.3736A= n.3923A= n.3920A= n.3800A= n.3716A= n.3708A= n.3705A= n.3585A= | |
| X | g.53194980G>A | CA413109622 | KDM5C | c.3389C>T (p.Thr1130Ile) c.3386C>T (p.Thr1129Ile) c.2894C>T (p.Thr965Ile) c.3266C>T (p.Thr1089Ile) c.3188C>T (p.Thr1063Ile) c.3311C>T (p.Thr1104Ile) c.2405C>T (p.Thr802Ile) n.3735C>T n.3922C>T n.3919C>T n.3799C>T n.3715C>T n.3707C>T n.3704C>T n.3584C>T | |
| X | g.53194980G>C | CA413109624 | KDM5C | c.3389C>G (p.Thr1130Arg) c.3386C>G (p.Thr1129Arg) c.2894C>G (p.Thr965Arg) c.3266C>G (p.Thr1089Arg) c.3188C>G (p.Thr1063Arg) c.3311C>G (p.Thr1104Arg) c.2405C>G (p.Thr802Arg) n.3735C>G n.3922C>G n.3919C>G n.3799C>G n.3715C>G n.3707C>G n.3704C>G n.3584C>G | |
| X | g.53194980G>T | CA413109626 | KDM5C | c.3389C>A (p.Thr1130Lys) c.3386C>A (p.Thr1129Lys) c.2894C>A (p.Thr965Lys) c.3266C>A (p.Thr1089Lys) c.3188C>A (p.Thr1063Lys) c.3311C>A (p.Thr1104Lys) c.2405C>A (p.Thr802Lys) n.3735C>A n.3922C>A n.3919C>A n.3799C>A n.3715C>A n.3707C>A n.3704C>A n.3584C>A | |
| X | g.53194981T>A | CA413109628 | KDM5C | c.3388A>T (p.Thr1130Ser) c.3385A>T (p.Thr1129Ser) c.2893A>T (p.Thr965Ser) c.3265A>T (p.Thr1089Ser) c.3187A>T (p.Thr1063Ser) c.3310A>T (p.Thr1104Ser) c.2404A>T (p.Thr802Ser) n.3734A>T n.3921A>T n.3918A>T n.3798A>T n.3714A>T n.3706A>T n.3703A>T n.3583A>T | gnomAD v4 |
| X | g.53194981T>C | CA413109630 | KDM5C | c.3388A>G (p.Thr1130Ala) c.3385A>G (p.Thr1129Ala) c.2893A>G (p.Thr965Ala) c.3265A>G (p.Thr1089Ala) c.3187A>G (p.Thr1063Ala) c.3310A>G (p.Thr1104Ala) c.2404A>G (p.Thr802Ala) n.3734A>G n.3921A>G n.3918A>G n.3798A>G n.3714A>G n.3706A>G n.3703A>G n.3583A>G | |
| X | g.53194981T>G | CA413109632 | KDM5C | c.3388A>C (p.Thr1130Pro) c.3385A>C (p.Thr1129Pro) c.2893A>C (p.Thr965Pro) c.3265A>C (p.Thr1089Pro) c.3187A>C (p.Thr1063Pro) c.3310A>C (p.Thr1104Pro) c.2404A>C (p.Thr802Pro) n.3734A>C n.3921A>C n.3918A>C n.3798A>C n.3714A>C n.3706A>C n.3703A>C n.3583A>C | |
| X | g.53194982G>A | CA516420974 | KDM5C | c.3387C>T (p.Asp1129=) c.3384C>T (p.Asp1128=) c.2892C>T (p.Asp964=) c.3264C>T (p.Asp1088=) c.3186C>T (p.Asp1062=) c.3309C>T (p.Asp1103=) c.2403C>T (p.Asp801=) n.3733C>T n.3920C>T n.3917C>T n.3797C>T n.3713C>T n.3705C>T n.3702C>T n.3582C>T | ClinVar |
| X | g.53194982G>C | CA413109634 | KDM5C | c.3387C>G (p.Asp1129Glu) c.3384C>G (p.Asp1128Glu) c.2892C>G (p.Asp964Glu) c.3264C>G (p.Asp1088Glu) c.3186C>G (p.Asp1062Glu) c.3309C>G (p.Asp1103Glu) c.2403C>G (p.Asp801Glu) n.3733C>G n.3920C>G n.3917C>G n.3797C>G n.3713C>G n.3705C>G n.3702C>G n.3582C>G | |
| X | g.53194982G>T | CA413109637 | KDM5C | c.3387C>A (p.Asp1129Glu) c.3384C>A (p.Asp1128Glu) c.2892C>A (p.Asp964Glu) c.3264C>A (p.Asp1088Glu) c.3186C>A (p.Asp1062Glu) c.3309C>A (p.Asp1103Glu) c.2403C>A (p.Asp801Glu) n.3733C>A n.3920C>A n.3917C>A n.3797C>A n.3713C>A n.3705C>A n.3702C>A n.3582C>A | |
| X | g.53194983T>A | CA413109639 | KDM5C | c.3386A>T (p.Asp1129Val) c.3383A>T (p.Asp1128Val) c.2891A>T (p.Asp964Val) c.3263A>T (p.Asp1088Val) c.3185A>T (p.Asp1062Val) c.3308A>T (p.Asp1103Val) c.2402A>T (p.Asp801Val) n.3732A>T n.3919A>T n.3916A>T n.3796A>T n.3712A>T n.3704A>T n.3701A>T n.3581A>T | |
| X | g.53194983T>C | CA413109641 | KDM5C | c.3386A>G (p.Asp1129Gly) c.3383A>G (p.Asp1128Gly) c.2891A>G (p.Asp964Gly) c.3263A>G (p.Asp1088Gly) c.3185A>G (p.Asp1062Gly) c.3308A>G (p.Asp1103Gly) c.2402A>G (p.Asp801Gly) n.3732A>G n.3919A>G n.3916A>G n.3796A>G n.3712A>G n.3704A>G n.3701A>G n.3581A>G | |
| X | g.53194983T>G | CA413109643 | KDM5C | c.3386A>C (p.Asp1129Ala) c.3383A>C (p.Asp1128Ala) c.2891A>C (p.Asp964Ala) c.3263A>C (p.Asp1088Ala) c.3185A>C (p.Asp1062Ala) c.3308A>C (p.Asp1103Ala) c.2402A>C (p.Asp801Ala) n.3732A>C n.3919A>C n.3916A>C n.3796A>C n.3712A>C n.3704A>C n.3701A>C n.3581A>C | |
| X | g.53194983_53194984insA | CA645614507 | KDM5C | c.3385_3386insT (p.Asp1129ValfsTer?) c.3382_3383insT (p.Asp1128ValfsTer?) c.2890_2891insT (p.Asp964ValfsTer?) c.3262_3263insT (p.Asp1088ValfsTer?) c.3184_3185insT (p.Asp1062ValfsTer?) c.3307_3308insT (p.Asp1103ValfsTer?) c.2401_2402insT (p.Asp801ValfsTer?) n.3731_3732insT n.3918_3919insT n.3915_3916insT n.3795_3796insT n.3711_3712insT n.3703_3704insT n.3700_3701insT n.3580_3581insT | COSMIC |
| X | g.53194984C>A | CA413109645 | KDM5C | c.3385G>T (p.Asp1129Tyr) c.3382G>T (p.Asp1128Tyr) c.2890G>T (p.Asp964Tyr) c.3262G>T (p.Asp1088Tyr) c.3184G>T (p.Asp1062Tyr) c.3307G>T (p.Asp1103Tyr) c.2401G>T (p.Asp801Tyr) n.3731G>T n.3918G>T n.3915G>T n.3795G>T n.3711G>T n.3703G>T n.3700G>T n.3580G>T | |
| X | g.53194984C>G | CA413109649 | KDM5C | c.3385G>C (p.Asp1129His) c.3382G>C (p.Asp1128His) c.2890G>C (p.Asp964His) c.3262G>C (p.Asp1088His) c.3184G>C (p.Asp1062His) c.3307G>C (p.Asp1103His) c.2401G>C (p.Asp801His) n.3731G>C n.3918G>C n.3915G>C n.3795G>C n.3711G>C n.3703G>C n.3700G>C n.3580G>C | dbSNP |
| X | g.53194984C>T | CA413109647 | KDM5C | c.3385G>A (p.Asp1129Asn) c.3382G>A (p.Asp1128Asn) c.2890G>A (p.Asp964Asn) c.3262G>A (p.Asp1088Asn) c.3184G>A (p.Asp1062Asn) c.3307G>A (p.Asp1103Asn) c.2401G>A (p.Asp801Asn) n.3731G>A n.3918G>A n.3915G>A n.3795G>A n.3711G>A n.3703G>A n.3700G>A n.3580G>A | |
| X | g.53194984_53194985insT | CA516420988 | KDM5C | c.3384_3385insA (p.Asp1129ArgfsTer?) c.3381_3382insA (p.Asp1128ArgfsTer?) c.2889_2890insA (p.Asp964ArgfsTer?) c.3261_3262insA (p.Asp1088ArgfsTer?) c.3183_3184insA (p.Asp1062ArgfsTer?) c.3306_3307insA (p.Asp1103ArgfsTer?) c.2400_2401insA (p.Asp801ArgfsTer?) n.3730_3731insA n.3917_3918insA n.3914_3915insA n.3794_3795insA n.3710_3711insA n.3702_3703insA n.3699_3700insA n.3579_3580insA | |
| X | g.53194985A>C | CA516420990 | KDM5C | c.3384T>G (p.Ser1128=) c.3381T>G (p.Ser1127=) c.2889T>G (p.Ser963=) c.3261T>G (p.Ser1087=) c.3183T>G (p.Ser1061=) c.3306T>G (p.Ser1102=) c.2400T>G (p.Ser800=) n.3730T>G n.3917T>G n.3914T>G n.3794T>G n.3710T>G n.3702T>G n.3699T>G n.3579T>G | |
| X | g.53194985A>G | CA516420993 | KDM5C | c.3384T>C (p.Ser1128=) c.3381T>C (p.Ser1127=) c.2889T>C (p.Ser963=) c.3261T>C (p.Ser1087=) c.3183T>C (p.Ser1061=) c.3306T>C (p.Ser1102=) c.2400T>C (p.Ser800=) n.3730T>C n.3917T>C n.3914T>C n.3794T>C n.3710T>C n.3702T>C n.3699T>C n.3579T>C | |
| X | g.53194985A>T | CA516420996 | KDM5C | c.3384T>A (p.Ser1128=) c.3381T>A (p.Ser1127=) c.2889T>A (p.Ser963=) c.3261T>A (p.Ser1087=) c.3183T>A (p.Ser1061=) c.3306T>A (p.Ser1102=) c.2400T>A (p.Ser800=) n.3730T>A n.3917T>A n.3914T>A n.3794T>A n.3710T>A n.3702T>A n.3699T>A n.3579T>A | |
| X | g.53194986G>A | CA413109651 | KDM5C | c.3383C>T (p.Ser1128Phe) c.3380C>T (p.Ser1127Phe) c.2888C>T (p.Ser963Phe) c.3260C>T (p.Ser1087Phe) c.3182C>T (p.Ser1061Phe) c.3305C>T (p.Ser1102Phe) c.2399C>T (p.Ser800Phe) n.3729C>T n.3916C>T n.3913C>T n.3793C>T n.3709C>T n.3701C>T n.3698C>T n.3578C>T | ClinVar |
| X | g.53194986G>C | CA413109655 | KDM5C | c.3383C>G (p.Ser1128Cys) c.3380C>G (p.Ser1127Cys) c.2888C>G (p.Ser963Cys) c.3260C>G (p.Ser1087Cys) c.3182C>G (p.Ser1061Cys) c.3305C>G (p.Ser1102Cys) c.2399C>G (p.Ser800Cys) n.3729C>G n.3916C>G n.3913C>G n.3793C>G n.3709C>G n.3701C>G n.3698C>G n.3578C>G | |
| X | g.53194986G>T | CA413109653 | KDM5C | c.3383C>A (p.Ser1128Tyr) c.3380C>A (p.Ser1127Tyr) c.2888C>A (p.Ser963Tyr) c.3260C>A (p.Ser1087Tyr) c.3182C>A (p.Ser1061Tyr) c.3305C>A (p.Ser1102Tyr) c.2399C>A (p.Ser800Tyr) n.3729C>A n.3916C>A n.3913C>A n.3793C>A n.3709C>A n.3701C>A n.3698C>A n.3578C>A | |
| X | g.53194987A>C | CA413109658 | KDM5C | c.3382T>G (p.Ser1128Ala) c.3379T>G (p.Ser1127Ala) c.2887T>G (p.Ser963Ala) c.3259T>G (p.Ser1087Ala) c.3181T>G (p.Ser1061Ala) c.3304T>G (p.Ser1102Ala) c.2398T>G (p.Ser800Ala) n.3728T>G n.3915T>G n.3912T>G n.3792T>G n.3708T>G n.3700T>G n.3697T>G n.3577T>G | |
| X | g.53194987A>G | CA413109660 | KDM5C | c.3382T>C (p.Ser1128Pro) c.3379T>C (p.Ser1127Pro) c.2887T>C (p.Ser963Pro) c.3259T>C (p.Ser1087Pro) c.3181T>C (p.Ser1061Pro) c.3304T>C (p.Ser1102Pro) c.2398T>C (p.Ser800Pro) n.3728T>C n.3915T>C n.3912T>C n.3792T>C n.3708T>C n.3700T>C n.3697T>C n.3577T>C | |
| X | g.53194987A>T | CA413109661 | KDM5C | c.3382T>A (p.Ser1128Thr) c.3379T>A (p.Ser1127Thr) c.2887T>A (p.Ser963Thr) c.3259T>A (p.Ser1087Thr) c.3181T>A (p.Ser1061Thr) c.3304T>A (p.Ser1102Thr) c.2398T>A (p.Ser800Thr) n.3728T>A n.3915T>A n.3912T>A n.3792T>A n.3708T>A n.3700T>A n.3697T>A n.3577T>A | |
| X | g.53194988T>A | CA413109664 | KDM5C | c.3381A>T (p.Lys1127Asn) c.3378A>T (p.Lys1126Asn) c.2886A>T (p.Lys962Asn) c.3258A>T (p.Lys1086Asn) c.3180A>T (p.Lys1060Asn) c.3303A>T (p.Lys1101Asn) c.2397A>T (p.Lys799Asn) n.3727A>T n.3914A>T n.3911A>T n.3791A>T n.3707A>T n.3699A>T n.3696A>T n.3576A>T | |
| X | g.53194988T>C | CA222566 | KDM5C | c.3381A>G (p.Lys1127=) c.3378A>G (p.Lys1126=) c.2886A>G (p.Lys962=) c.3258A>G (p.Lys1086=) c.3180A>G (p.Lys1060=) c.3303A>G (p.Lys1101=) c.2397A>G (p.Lys799=) n.3727A>G n.3914A>G n.3911A>G n.3791A>G n.3707A>G n.3699A>G n.3696A>G n.3576A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53194988T>G | CA413109666 | KDM5C | c.3381A>C (p.Lys1127Asn) c.3378A>C (p.Lys1126Asn) c.2886A>C (p.Lys962Asn) c.3258A>C (p.Lys1086Asn) c.3180A>C (p.Lys1060Asn) c.3303A>C (p.Lys1101Asn) c.2397A>C (p.Lys799Asn) n.3727A>C n.3914A>C n.3911A>C n.3791A>C n.3707A>C n.3699A>C n.3696A>C n.3576A>C | |
| X | g.53194988T= | CA2429757402 | KDM5C | c.3381A= (p.Lys1127=) c.3378A= (p.Lys1126=) c.2886A= (p.Lys962=) c.3258A= (p.Lys1086=) c.3180A= (p.Lys1060=) c.3303A= (p.Lys1101=) c.2397A= (p.Lys799=) n.3727A= n.3914A= n.3911A= n.3791A= n.3707A= n.3699A= n.3696A= n.3576A= | |
| X | g.53194989T>A | CA413109669 | KDM5C | c.3380A>T (p.Lys1127Ile) c.3377A>T (p.Lys1126Ile) c.2885A>T (p.Lys962Ile) c.3257A>T (p.Lys1086Ile) c.3179A>T (p.Lys1060Ile) c.3302A>T (p.Lys1101Ile) c.2396A>T (p.Lys799Ile) n.3726A>T n.3913A>T n.3910A>T n.3790A>T n.3706A>T n.3698A>T n.3695A>T n.3575A>T | |
| X | g.53194989T>C | CA413109671 | KDM5C | c.3380A>G (p.Lys1127Arg) c.3377A>G (p.Lys1126Arg) c.2885A>G (p.Lys962Arg) c.3257A>G (p.Lys1086Arg) c.3179A>G (p.Lys1060Arg) c.3302A>G (p.Lys1101Arg) c.2396A>G (p.Lys799Arg) n.3726A>G n.3913A>G n.3910A>G n.3790A>G n.3706A>G n.3698A>G n.3695A>G n.3575A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.53194989T>G | CA10419238 | KDM5C | c.3380A>C (p.Lys1127Thr) c.3377A>C (p.Lys1126Thr) c.2885A>C (p.Lys962Thr) c.3257A>C (p.Lys1086Thr) c.3179A>C (p.Lys1060Thr) c.3302A>C (p.Lys1101Thr) c.2396A>C (p.Lys799Thr) n.3726A>C n.3913A>C n.3910A>C n.3790A>C n.3706A>C n.3698A>C n.3695A>C n.3575A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.53194989T= | CA2429757403 | KDM5C | c.3380A= (p.Lys1127=) c.3377A= (p.Lys1126=) c.2885A= (p.Lys962=) c.3257A= (p.Lys1086=) c.3179A= (p.Lys1060=) c.3302A= (p.Lys1101=) c.2396A= (p.Lys799=) n.3726A= n.3913A= n.3910A= n.3790A= n.3706A= n.3698A= n.3695A= n.3575A= | |
| X | g.53194990T>A | CA413109675 | KDM5C | c.3379A>T (p.Lys1127Ter) c.3376A>T (p.Lys1126Ter) c.2884A>T (p.Lys962Ter) c.3256A>T (p.Lys1086Ter) c.3178A>T (p.Lys1060Ter) c.3301A>T (p.Lys1101Ter) c.2395A>T (p.Lys799Ter) n.3725A>T n.3912A>T n.3909A>T n.3789A>T n.3705A>T n.3697A>T n.3694A>T n.3574A>T |