Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.54626497G>A | CA180400 | RP1 | c.2615G>A (p.Arg872His) c.787+4209G>A (n.787+4209G>A) c.2636G>A (p.Arg879His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54626497G>C | CA370994239 | RP1 | c.2615G>C (p.Arg872Pro) c.787+4209G>C (n.787+4209G>C) c.2636G>C (p.Arg879Pro) | |
8 | g.54626497G= | CA1785188348 | RP1 | c.2615G= (p.Arg872=) c.787+4209G= (n.787+4209G=) c.2636G= (p.Arg879=) | |
8 | g.54626497G>T | CA370994240 | RP1 | c.2615G>T (p.Arg872Leu) c.787+4209G>T (n.787+4209G>T) c.2636G>T (p.Arg879Leu) | gnomAD v4 |
8 | g.54626497_54626505dup | CA1785188347 | RP1 | c.2615_2623dup (p.Gly874_Asp875insGlyLysGly) c.787+4209_787+4217dup (n.787+4209_787+4217dup) c.2636_2644dup (p.Gly881_Asp882insGlyLysGly) | dbSNP |
8 | g.54626498T>A | CA461098990 | RP1 | c.2616T>A (p.Arg872=) c.787+4210T>A (n.787+4210T>A) c.2637T>A (p.Arg879=) | |
8 | g.54626498T>C | CA461098991 | RP1 | c.2616T>C (p.Arg872=) c.787+4210T>C (n.787+4210T>C) c.2637T>C (p.Arg879=) | dbSNP gnomAD v4 |
8 | g.54626498T>G | CA461098992 | RP1 | c.2616T>G (p.Arg872=) c.787+4210T>G (n.787+4210T>G) c.2637T>G (p.Arg879=) | |
8 | g.54626498T= | CA1785188349 | RP1 | c.2616T= (p.Arg872=) c.787+4210T= (n.787+4210T=) c.2637T= (p.Arg879=) | |
8 | g.54626499A= | CA1785188350 | RP1 | c.2617A= (p.Lys873=) c.787+4211A= (n.787+4211A=) c.2638A= (p.Lys880=) | |
8 | g.54626499A>C | CA370994241 | RP1 | c.2617A>C (p.Lys873Gln) c.787+4211A>C (n.787+4211A>C) c.2638A>C (p.Lys880Gln) | |
8 | g.54626499A>G | CA370994242 | RP1 | c.2617A>G (p.Lys873Glu) c.787+4211A>G (n.787+4211A>G) c.2638A>G (p.Lys880Glu) | dbSNP gnomAD v4 |
8 | g.54626499A>T | CA370994243 | RP1 | c.2617A>T (p.Lys873Ter) c.787+4211A>T (n.787+4211A>T) c.2638A>T (p.Lys880Ter) | |
8 | g.54626501dup | CA2687301839 | RP1 | c.2619dup (p.Gly874ArgfsTer3) c.787+4213dup (n.787+4213dup) c.2640dup (p.Gly881ArgfsTer3) | gnomAD v4 |
8 | g.54626501del | CA2579168461 | RP1 | c.2619del (p.Asp875IlefsTer3) c.787+4213del (n.787+4213del) c.2640del (p.Asp882IlefsTer3) | |
8 | g.54626500A>C | CA370994244 | RP1 | c.2618A>C (p.Lys873Thr) c.787+4212A>C (n.787+4212A>C) c.2639A>C (p.Lys880Thr) | |
8 | g.54626500A>G | CA370994245 | RP1 | c.2618A>G (p.Lys873Arg) c.787+4212A>G (n.787+4212A>G) c.2639A>G (p.Lys880Arg) | |
8 | g.54626500A>T | CA370994246 | RP1 | c.2618A>T (p.Lys873Ile) c.787+4212A>T (n.787+4212A>T) c.2639A>T (p.Lys880Ile) | |
8 | g.54626501A= | CA1785188351 | RP1 | c.2619A= (p.Lys873=) c.787+4213A= (n.787+4213A=) c.2640A= (p.Lys880=) | |
8 | g.54626501A>C | CA370994248 | RP1 | c.2619A>C (p.Lys873Asn) c.787+4213A>C (n.787+4213A>C) c.2640A>C (p.Lys880Asn) | |
8 | g.54626501A>G | CA461098993 | RP1 | c.2619A>G (p.Lys873=) c.787+4213A>G (n.787+4213A>G) c.2640A>G (p.Lys880=) | |
8 | g.54626501A>T | CA370994247 | RP1 | c.2619A>T (p.Lys873Asn) c.787+4213A>T (n.787+4213A>T) c.2640A>T (p.Lys880Asn) | dbSNP |
8 | g.54626502G>A | CA370994249 | RP1 | c.2620G>A (p.Gly874Arg) c.787+4214G>A (n.787+4214G>A) c.2641G>A (p.Gly881Arg) | |
8 | g.54626502G>C | CA370994250 | RP1 | c.2620G>C (p.Gly874Arg) c.787+4214G>C (n.787+4214G>C) c.2641G>C (p.Gly881Arg) | |
8 | g.54626502G>T | CA370994251 | RP1 | c.2620G>T (p.Gly874Trp) c.787+4214G>T (n.787+4214G>T) c.2641G>T (p.Gly881Trp) | |
8 | g.54626505del | CA645560573 | RP1 | c.2623del (p.Asp875IlefsTer3) c.787+4217del (n.787+4217del) c.2644del (p.Asp882IlefsTer3) | COSMIC |
8 | g.54626503G>A | CA370994252 | RP1 | c.2621G>A (p.Gly874Glu) c.787+4215G>A (n.787+4215G>A) c.2642G>A (p.Gly881Glu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
8 | g.54626503G>C | CA370994253 | RP1 | c.2621G>C (p.Gly874Ala) c.787+4215G>C (n.787+4215G>C) c.2642G>C (p.Gly881Ala) | gnomAD v4 |
8 | g.54626503G= | CA1785188352 | RP1 | c.2621G= (p.Gly874=) c.787+4215G= (n.787+4215G=) c.2642G= (p.Gly881=) | |
8 | g.54626503G>T | CA370994254 | RP1 | c.2621G>T (p.Gly874Val) c.787+4215G>T (n.787+4215G>T) c.2642G>T (p.Gly881Val) | |
8 | g.54626504G>A | CA4751565 | RP1 | c.2622G>A (p.Gly874=) c.787+4216G>A (n.787+4216G>A) c.2643G>A (p.Gly881=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54626504G>C | CA461098995 | RP1 | c.2622G>C (p.Gly874=) c.787+4216G>C (n.787+4216G>C) c.2643G>C (p.Gly881=) | gnomAD v4 |
8 | g.54626504G= | CA1785188353 | RP1 | c.2622G= (p.Gly874=) c.787+4216G= (n.787+4216G=) c.2643G= (p.Gly881=) | |
8 | g.54626504G>T | CA461098994 | RP1 | c.2622G>T (p.Gly874=) c.787+4216G>T (n.787+4216G>T) c.2643G>T (p.Gly881=) | |
8 | g.54626505G>A | CA4751566 | RP1 | c.2623G>A (p.Asp875Asn) c.787+4217G>A (n.787+4217G>A) c.2644G>A (p.Asp882Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.54626505G>C | CA370994255 | RP1 | c.2623G>C (p.Asp875His) c.787+4217G>C (n.787+4217G>C) c.2644G>C (p.Asp882His) | |
8 | g.54626505G= | CA1785188354 | RP1 | c.2623G= (p.Asp875=) c.787+4217G= (n.787+4217G=) c.2644G= (p.Asp882=) | |
8 | g.54626505G>T | CA370994256 | RP1 | c.2623G>T (p.Asp875Tyr) c.787+4217G>T (n.787+4217G>T) c.2644G>T (p.Asp882Tyr) | |
8 | g.54626506A= | CA1785188355 | RP1 | c.2624A= (p.Asp875=) c.787+4218A= (n.787+4218A=) c.2645A= (p.Asp882=) | |
8 | g.54626506A>C | CA370994257 | RP1 | c.2624A>C (p.Asp875Ala) c.787+4218A>C (n.787+4218A>C) c.2645A>C (p.Asp882Ala) | |
8 | g.54626506A>G | CA370994258 | RP1 | c.2624A>G (p.Asp875Gly) c.787+4218A>G (n.787+4218A>G) c.2645A>G (p.Asp882Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.54626506A>T | CA370994259 | RP1 | c.2624A>T (p.Asp875Val) c.787+4218A>T (n.787+4218A>T) c.2645A>T (p.Asp882Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54626507T>A | CA370994260 | RP1 | c.2625T>A (p.Asp875Glu) c.787+4219T>A (n.787+4219T>A) c.2646T>A (p.Asp882Glu) | |
8 | g.54626507T>C | CA461098996 | RP1 | c.2625T>C (p.Asp875=) c.787+4219T>C (n.787+4219T>C) c.2646T>C (p.Asp882=) | |
8 | g.54626507T>G | CA370994261 | RP1 | c.2625T>G (p.Asp875Glu) c.787+4219T>G (n.787+4219T>G) c.2646T>G (p.Asp882Glu) | |
8 | g.54626508A>C | CA370994262 | RP1 | c.2626A>C (p.Lys876Gln) c.787+4220A>C (n.787+4220A>C) c.2647A>C (p.Lys883Gln) | |
8 | g.54626508A>G | CA370994264 | RP1 | c.2626A>G (p.Lys876Glu) c.787+4220A>G (n.787+4220A>G) c.2647A>G (p.Lys883Glu) | |
8 | g.54626508A>T | CA370994263 | RP1 | c.2626A>T (p.Lys876Ter) c.787+4220A>T (n.787+4220A>T) c.2647A>T (p.Lys883Ter) | ClinVar |
8 | g.54626509A= | CA1785188356 | RP1 | c.2627A= (p.Lys876=) c.787+4221A= (n.787+4221A=) c.2648A= (p.Lys883=) | |
8 | g.54626509A>C | CA4751567 | RP1 | c.2627A>C (p.Lys876Thr) c.787+4221A>C (n.787+4221A>C) c.2648A>C (p.Lys883Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |