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 |
|---|---|---|---|---|---|
| 15 | g.22903836C>A | CA391334642 | CYFIP1 | c.2452G>T (p.Gly818Cys) c.2458G>T (p.Gly820Cys) c.1165G>T (p.Gly389Cys) n.851G>T n.1605G>T c.2857G>T (p.Gly953Cys) c.2560G>T (p.Gly854Cys) c.778G>T (p.Gly260Cys) c.2368G>T (p.Gly790Cys) c.2092G>T (p.Gly698Cys) c.2356G>T (p.Gly786Cys) c.2554G>T (p.Gly852Cys) c.2959G>T (p.Gly987Cys) | |
| 15 | g.22903836C= | CA2163978076 | CYFIP1 | c.2452G= (p.Gly818=) c.2458G= (p.Gly820=) c.1165G= (p.Gly389=) n.851G= n.1605G= c.2857G= (p.Gly953=) c.2560G= (p.Gly854=) c.778G= (p.Gly260=) c.2368G= (p.Gly790=) c.2092G= (p.Gly698=) c.2356G= (p.Gly786=) c.2554G= (p.Gly852=) c.2959G= (p.Gly987=) | |
| 15 | g.22903836C>G | CA391334644 | CYFIP1 | c.2452G>C (p.Gly818Arg) c.2458G>C (p.Gly820Arg) c.1165G>C (p.Gly389Arg) n.851G>C n.1605G>C c.2857G>C (p.Gly953Arg) c.2560G>C (p.Gly854Arg) c.778G>C (p.Gly260Arg) c.2368G>C (p.Gly790Arg) c.2092G>C (p.Gly698Arg) c.2356G>C (p.Gly786Arg) c.2554G>C (p.Gly852Arg) c.2959G>C (p.Gly987Arg) | |
| 15 | g.22903836C>T | CA7425104 | CYFIP1 | c.2452G>A (p.Gly818Ser) c.2458G>A (p.Gly820Ser) c.1165G>A (p.Gly389Ser) n.851G>A n.1605G>A c.2857G>A (p.Gly953Ser) c.2560G>A (p.Gly854Ser) c.778G>A (p.Gly260Ser) c.2368G>A (p.Gly790Ser) c.2092G>A (p.Gly698Ser) c.2356G>A (p.Gly786Ser) c.2554G>A (p.Gly852Ser) c.2959G>A (p.Gly987Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.22903837G>A | CA488526484 | CYFIP1 | c.2451C>T (p.Asp817=) c.2457C>T (p.Asp819=) c.1164C>T (p.Asp388=) n.850C>T n.1604C>T c.2856C>T (p.Asp952=) c.2559C>T (p.Asp853=) c.777C>T (p.Asp259=) c.2367C>T (p.Asp789=) c.2091C>T (p.Asp697=) c.2355C>T (p.Asp785=) c.2553C>T (p.Asp851=) c.2958C>T (p.Asp986=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.22903837G>C | CA391334647 | CYFIP1 | c.2451C>G (p.Asp817Glu) c.2457C>G (p.Asp819Glu) c.1164C>G (p.Asp388Glu) n.850C>G n.1604C>G c.2856C>G (p.Asp952Glu) c.2559C>G (p.Asp853Glu) c.777C>G (p.Asp259Glu) c.2367C>G (p.Asp789Glu) c.2091C>G (p.Asp697Glu) c.2355C>G (p.Asp785Glu) c.2553C>G (p.Asp851Glu) c.2958C>G (p.Asp986Glu) | |
| 15 | g.22903837G= | CA2163978078 | CYFIP1 | c.2451C= (p.Asp817=) c.2457C= (p.Asp819=) c.1164C= (p.Asp388=) n.850C= n.1604C= c.2856C= (p.Asp952=) c.2559C= (p.Asp853=) c.777C= (p.Asp259=) c.2367C= (p.Asp789=) c.2091C= (p.Asp697=) c.2355C= (p.Asp785=) c.2553C= (p.Asp851=) c.2958C= (p.Asp986=) | |
| 15 | g.22903837G>T | CA391334648 | CYFIP1 | c.2451C>A (p.Asp817Glu) c.2457C>A (p.Asp819Glu) c.1164C>A (p.Asp388Glu) n.850C>A n.1604C>A c.2856C>A (p.Asp952Glu) c.2559C>A (p.Asp853Glu) c.777C>A (p.Asp259Glu) c.2367C>A (p.Asp789Glu) c.2091C>A (p.Asp697Glu) c.2355C>A (p.Asp785Glu) c.2553C>A (p.Asp851Glu) c.2958C>A (p.Asp986Glu) | |
| 15 | g.22903838T>A | CA391334651 | CYFIP1 | c.2450A>T (p.Asp817Val) c.2456A>T (p.Asp819Val) c.1163A>T (p.Asp388Val) n.849A>T n.1603A>T c.2855A>T (p.Asp952Val) c.2558A>T (p.Asp853Val) c.776A>T (p.Asp259Val) c.2366A>T (p.Asp789Val) c.2090A>T (p.Asp697Val) c.2354A>T (p.Asp785Val) c.2552A>T (p.Asp851Val) c.2957A>T (p.Asp986Val) | dbSNP |
| 15 | g.22903838T>C | CA391334653 | CYFIP1 | c.2450A>G (p.Asp817Gly) c.2456A>G (p.Asp819Gly) c.1163A>G (p.Asp388Gly) n.849A>G n.1603A>G c.2855A>G (p.Asp952Gly) c.2558A>G (p.Asp853Gly) c.776A>G (p.Asp259Gly) c.2366A>G (p.Asp789Gly) c.2090A>G (p.Asp697Gly) c.2354A>G (p.Asp785Gly) c.2552A>G (p.Asp851Gly) c.2957A>G (p.Asp986Gly) | |
| 15 | g.22903838T>G | CA391334655 | CYFIP1 | c.2450A>C (p.Asp817Ala) c.2456A>C (p.Asp819Ala) c.1163A>C (p.Asp388Ala) n.849A>C n.1603A>C c.2855A>C (p.Asp952Ala) c.2558A>C (p.Asp853Ala) c.776A>C (p.Asp259Ala) c.2366A>C (p.Asp789Ala) c.2090A>C (p.Asp697Ala) c.2354A>C (p.Asp785Ala) c.2552A>C (p.Asp851Ala) c.2957A>C (p.Asp986Ala) | dbSNP |
| 15 | g.22903839C>A | CA391334657 | CYFIP1 | c.2449G>T (p.Asp817Tyr) c.2455G>T (p.Asp819Tyr) c.1162G>T (p.Asp388Tyr) n.848G>T n.1602G>T c.2854G>T (p.Asp952Tyr) c.2557G>T (p.Asp853Tyr) c.775G>T (p.Asp259Tyr) c.2365G>T (p.Asp789Tyr) c.2089G>T (p.Asp697Tyr) c.2353G>T (p.Asp785Tyr) c.2551G>T (p.Asp851Tyr) c.2956G>T (p.Asp986Tyr) | |
| 15 | g.22903839C>G | CA391334658 | CYFIP1 | c.2449G>C (p.Asp817His) c.2455G>C (p.Asp819His) c.1162G>C (p.Asp388His) n.848G>C n.1602G>C c.2854G>C (p.Asp952His) c.2557G>C (p.Asp853His) c.775G>C (p.Asp259His) c.2365G>C (p.Asp789His) c.2089G>C (p.Asp697His) c.2353G>C (p.Asp785His) c.2551G>C (p.Asp851His) c.2956G>C (p.Asp986His) | gnomAD v4 |
| 15 | g.22903839C>T | CA391334660 | CYFIP1 | c.2449G>A (p.Asp817Asn) c.2455G>A (p.Asp819Asn) c.1162G>A (p.Asp388Asn) n.848G>A n.1602G>A c.2854G>A (p.Asp952Asn) c.2557G>A (p.Asp853Asn) c.775G>A (p.Asp259Asn) c.2365G>A (p.Asp789Asn) c.2089G>A (p.Asp697Asn) c.2353G>A (p.Asp785Asn) c.2551G>A (p.Asp851Asn) c.2956G>A (p.Asp986Asn) | dbSNP |
| 15 | g.22903840C>A | CA488526485 | CYFIP1 | c.2448G>T (p.Leu816=) c.2454G>T (p.Leu818=) c.1161G>T (p.Leu387=) n.847G>T n.1601G>T c.2853G>T (p.Leu951=) c.2556G>T (p.Leu852=) c.774G>T (p.Leu258=) c.2364G>T (p.Leu788=) c.2088G>T (p.Leu696=) c.2352G>T (p.Leu784=) c.2550G>T (p.Leu850=) c.2955G>T (p.Leu985=) | |
| 15 | g.22903840C= | CA2163978081 | CYFIP1 | c.2448G= (p.Leu816=) c.2454G= (p.Leu818=) c.1161G= (p.Leu387=) n.847G= n.1601G= c.2853G= (p.Leu951=) c.2556G= (p.Leu852=) c.774G= (p.Leu258=) c.2364G= (p.Leu788=) c.2088G= (p.Leu696=) c.2352G= (p.Leu784=) c.2550G= (p.Leu850=) c.2955G= (p.Leu985=) | |
| 15 | g.22903840C>G | CA488526486 | CYFIP1 | c.2448G>C (p.Leu816=) c.2454G>C (p.Leu818=) c.1161G>C (p.Leu387=) n.847G>C n.1601G>C c.2853G>C (p.Leu951=) c.2556G>C (p.Leu852=) c.774G>C (p.Leu258=) c.2364G>C (p.Leu788=) c.2088G>C (p.Leu696=) c.2352G>C (p.Leu784=) c.2550G>C (p.Leu850=) c.2955G>C (p.Leu985=) | |
| 15 | g.22903840C>T | CA488526487 | CYFIP1 | c.2448G>A (p.Leu816=) c.2454G>A (p.Leu818=) c.1161G>A (p.Leu387=) n.847G>A n.1601G>A c.2853G>A (p.Leu951=) c.2556G>A (p.Leu852=) c.774G>A (p.Leu258=) c.2364G>A (p.Leu788=) c.2088G>A (p.Leu696=) c.2352G>A (p.Leu784=) c.2550G>A (p.Leu850=) c.2955G>A (p.Leu985=) | dbSNP gnomAD v4 |
| 15 | g.22903844_22903861del | CA2627257802 | CYFIP1 | c.2431_2448del (p.Ser811_Leu816del) c.2437_2454del (p.Ser813_Leu818del) c.1144_1161del (p.Ser382_Leu387del) n.830_847del n.1584_1601del c.2836_2853del (p.Ser946_Leu951del) c.2539_2556del (p.Ser847_Leu852del) c.757_774del (p.Ser253_Leu258del) c.2347_2364del (p.Ser783_Leu788del) c.2071_2088del (p.Ser691_Leu696del) c.2335_2352del (p.Ser779_Leu784del) c.2533_2550del (p.Ser845_Leu850del) c.2938_2955del (p.Ser980_Leu985del) | gnomAD v4 |
| 15 | g.22903841A= | CA2163978083 | CYFIP1 | c.2447T= (p.Leu816=) c.2453T= (p.Leu818=) c.1160T= (p.Leu387=) n.846T= n.1600T= c.2852T= (p.Leu951=) c.2555T= (p.Leu852=) c.773T= (p.Leu258=) c.2363T= (p.Leu788=) c.2087T= (p.Leu696=) c.2351T= (p.Leu784=) c.2549T= (p.Leu850=) c.2954T= (p.Leu985=) | |
| 15 | g.22903841A>C | CA391334665 | CYFIP1 | c.2447T>G (p.Leu816Arg) c.2453T>G (p.Leu818Arg) c.1160T>G (p.Leu387Arg) n.846T>G n.1600T>G c.2852T>G (p.Leu951Arg) c.2555T>G (p.Leu852Arg) c.773T>G (p.Leu258Arg) c.2363T>G (p.Leu788Arg) c.2087T>G (p.Leu696Arg) c.2351T>G (p.Leu784Arg) c.2549T>G (p.Leu850Arg) c.2954T>G (p.Leu985Arg) | |
| 15 | g.22903841A>G | CA7425103 | CYFIP1 | c.2447T>C (p.Leu816Pro) c.2453T>C (p.Leu818Pro) c.1160T>C (p.Leu387Pro) n.846T>C n.1600T>C c.2852T>C (p.Leu951Pro) c.2555T>C (p.Leu852Pro) c.773T>C (p.Leu258Pro) c.2363T>C (p.Leu788Pro) c.2087T>C (p.Leu696Pro) c.2351T>C (p.Leu784Pro) c.2549T>C (p.Leu850Pro) c.2954T>C (p.Leu985Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.22903841A>T | CA391334663 | CYFIP1 | c.2447T>A (p.Leu816Gln) c.2453T>A (p.Leu818Gln) c.1160T>A (p.Leu387Gln) n.846T>A n.1600T>A c.2852T>A (p.Leu951Gln) c.2555T>A (p.Leu852Gln) c.773T>A (p.Leu258Gln) c.2363T>A (p.Leu788Gln) c.2087T>A (p.Leu696Gln) c.2351T>A (p.Leu784Gln) c.2549T>A (p.Leu850Gln) c.2954T>A (p.Leu985Gln) | dbSNP |
| 15 | g.22903842G>A | CA488526488 | CYFIP1 | c.2446C>T (p.Leu816=) c.2452C>T (p.Leu818=) c.1159C>T (p.Leu387=) n.845C>T n.1599C>T c.2851C>T (p.Leu951=) c.2554C>T (p.Leu852=) c.772C>T (p.Leu258=) c.2362C>T (p.Leu788=) c.2086C>T (p.Leu696=) c.2350C>T (p.Leu784=) c.2548C>T (p.Leu850=) c.2953C>T (p.Leu985=) | |
| 15 | g.22903842G>C | CA391334668 | CYFIP1 | c.2446C>G (p.Leu816Val) c.2452C>G (p.Leu818Val) c.1159C>G (p.Leu387Val) n.845C>G n.1599C>G c.2851C>G (p.Leu951Val) c.2554C>G (p.Leu852Val) c.772C>G (p.Leu258Val) c.2362C>G (p.Leu788Val) c.2086C>G (p.Leu696Val) c.2350C>G (p.Leu784Val) c.2548C>G (p.Leu850Val) c.2953C>G (p.Leu985Val) | |
| 15 | g.22903842G= | CA2163978085 | CYFIP1 | c.2446C= (p.Leu816=) c.2452C= (p.Leu818=) c.1159C= (p.Leu387=) n.845C= n.1599C= c.2851C= (p.Leu951=) c.2554C= (p.Leu852=) c.772C= (p.Leu258=) c.2362C= (p.Leu788=) c.2086C= (p.Leu696=) c.2350C= (p.Leu784=) c.2548C= (p.Leu850=) c.2953C= (p.Leu985=) | |
| 15 | g.22903842G>T | CA391334669 | CYFIP1 | c.2446C>A (p.Leu816Met) c.2452C>A (p.Leu818Met) c.1159C>A (p.Leu387Met) n.845C>A n.1599C>A c.2851C>A (p.Leu951Met) c.2554C>A (p.Leu852Met) c.772C>A (p.Leu258Met) c.2362C>A (p.Leu788Met) c.2086C>A (p.Leu696Met) c.2350C>A (p.Leu784Met) c.2548C>A (p.Leu850Met) c.2953C>A (p.Leu985Met) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.22903843C>A | CA488526489 | CYFIP1 | c.2445G>T (p.Thr815=) c.2451G>T (p.Thr817=) c.1158G>T (p.Thr386=) n.844G>T n.1598G>T c.2850G>T (p.Thr950=) c.2553G>T (p.Thr851=) c.771G>T (p.Thr257=) c.2361G>T (p.Thr787=) c.2085G>T (p.Thr695=) c.2349G>T (p.Thr783=) c.2547G>T (p.Thr849=) c.2952G>T (p.Thr984=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.22903843C= | CA2163978088 | CYFIP1 | c.2445G= (p.Thr815=) c.2451G= (p.Thr817=) c.1158G= (p.Thr386=) n.844G= n.1598G= c.2850G= (p.Thr950=) c.2553G= (p.Thr851=) c.771G= (p.Thr257=) c.2361G= (p.Thr787=) c.2085G= (p.Thr695=) c.2349G= (p.Thr783=) c.2547G= (p.Thr849=) c.2952G= (p.Thr984=) | |
| 15 | g.22903843C>G | CA488526490 | CYFIP1 | c.2445G>C (p.Thr815=) c.2451G>C (p.Thr817=) c.1158G>C (p.Thr386=) n.844G>C n.1598G>C c.2850G>C (p.Thr950=) c.2553G>C (p.Thr851=) c.771G>C (p.Thr257=) c.2361G>C (p.Thr787=) c.2085G>C (p.Thr695=) c.2349G>C (p.Thr783=) c.2547G>C (p.Thr849=) c.2952G>C (p.Thr984=) | |
| 15 | g.22903843C>T | CA7425102 | CYFIP1 | c.2445G>A (p.Thr815=) c.2451G>A (p.Thr817=) c.1158G>A (p.Thr386=) n.844G>A n.1598G>A c.2850G>A (p.Thr950=) c.2553G>A (p.Thr851=) c.771G>A (p.Thr257=) c.2361G>A (p.Thr787=) c.2085G>A (p.Thr695=) c.2349G>A (p.Thr783=) c.2547G>A (p.Thr849=) c.2952G>A (p.Thr984=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.22903844G>A | CA7425101 | CYFIP1 | c.2444C>T (p.Thr815Met) c.2450C>T (p.Thr817Met) c.1157C>T (p.Thr386Met) n.843C>T n.1597C>T c.2849C>T (p.Thr950Met) c.2552C>T (p.Thr851Met) c.770C>T (p.Thr257Met) c.2360C>T (p.Thr787Met) c.2084C>T (p.Thr695Met) c.2348C>T (p.Thr783Met) c.2546C>T (p.Thr849Met) c.2951C>T (p.Thr984Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.22903844G>C | CA391334673 | CYFIP1 | c.2444C>G (p.Thr815Arg) c.2450C>G (p.Thr817Arg) c.1157C>G (p.Thr386Arg) n.843C>G n.1597C>G c.2849C>G (p.Thr950Arg) c.2552C>G (p.Thr851Arg) c.770C>G (p.Thr257Arg) c.2360C>G (p.Thr787Arg) c.2084C>G (p.Thr695Arg) c.2348C>G (p.Thr783Arg) c.2546C>G (p.Thr849Arg) c.2951C>G (p.Thr984Arg) | |
| 15 | g.22903844G= | CA2163978094 | CYFIP1 | c.2444C= (p.Thr815=) c.2450C= (p.Thr817=) c.1157C= (p.Thr386=) n.843C= n.1597C= c.2849C= (p.Thr950=) c.2552C= (p.Thr851=) c.770C= (p.Thr257=) c.2360C= (p.Thr787=) c.2084C= (p.Thr695=) c.2348C= (p.Thr783=) c.2546C= (p.Thr849=) c.2951C= (p.Thr984=) | |
| 15 | g.22903844G>T | CA391334675 | CYFIP1 | c.2444C>A (p.Thr815Lys) c.2450C>A (p.Thr817Lys) c.1157C>A (p.Thr386Lys) n.843C>A n.1597C>A c.2849C>A (p.Thr950Lys) c.2552C>A (p.Thr851Lys) c.770C>A (p.Thr257Lys) c.2360C>A (p.Thr787Lys) c.2084C>A (p.Thr695Lys) c.2348C>A (p.Thr783Lys) c.2546C>A (p.Thr849Lys) c.2951C>A (p.Thr984Lys) | |
| 15 | g.22903845T>A | CA391334677 | CYFIP1 | c.2443A>T (p.Thr815Ser) c.2449A>T (p.Thr817Ser) c.1156A>T (p.Thr386Ser) n.842A>T n.1596A>T c.2848A>T (p.Thr950Ser) c.2551A>T (p.Thr851Ser) c.769A>T (p.Thr257Ser) c.2359A>T (p.Thr787Ser) c.2083A>T (p.Thr695Ser) c.2347A>T (p.Thr783Ser) c.2545A>T (p.Thr849Ser) c.2950A>T (p.Thr984Ser) | dbSNP |
| 15 | g.22903845T>C | CA391334679 | CYFIP1 | c.2443A>G (p.Thr815Ala) c.2449A>G (p.Thr817Ala) c.1156A>G (p.Thr386Ala) n.842A>G n.1596A>G c.2848A>G (p.Thr950Ala) c.2551A>G (p.Thr851Ala) c.769A>G (p.Thr257Ala) c.2359A>G (p.Thr787Ala) c.2083A>G (p.Thr695Ala) c.2347A>G (p.Thr783Ala) c.2545A>G (p.Thr849Ala) c.2950A>G (p.Thr984Ala) | |
| 15 | g.22903845T>G | CA391334680 | CYFIP1 | c.2443A>C (p.Thr815Pro) c.2449A>C (p.Thr817Pro) c.1156A>C (p.Thr386Pro) n.842A>C n.1596A>C c.2848A>C (p.Thr950Pro) c.2551A>C (p.Thr851Pro) c.769A>C (p.Thr257Pro) c.2359A>C (p.Thr787Pro) c.2083A>C (p.Thr695Pro) c.2347A>C (p.Thr783Pro) c.2545A>C (p.Thr849Pro) c.2950A>C (p.Thr984Pro) | dbSNP |
| 15 | g.22903846C>A | CA488526491 | CYFIP1 | c.2442G>T (p.Leu814=) c.2448G>T (p.Leu816=) c.1155G>T (p.Leu385=) n.841G>T n.1595G>T c.2847G>T (p.Leu949=) c.2550G>T (p.Leu850=) c.768G>T (p.Leu256=) c.2358G>T (p.Leu786=) c.2082G>T (p.Leu694=) c.2346G>T (p.Leu782=) c.2544G>T (p.Leu848=) c.2949G>T (p.Leu983=) | |
| 15 | g.22903846C= | CA2163978097 | CYFIP1 | c.2442G= (p.Leu814=) c.2448G= (p.Leu816=) c.1155G= (p.Leu385=) n.841G= n.1595G= c.2847G= (p.Leu949=) c.2550G= (p.Leu850=) c.768G= (p.Leu256=) c.2358G= (p.Leu786=) c.2082G= (p.Leu694=) c.2346G= (p.Leu782=) c.2544G= (p.Leu848=) c.2949G= (p.Leu983=) | |
| 15 | g.22903846C>G | CA267616566 | CYFIP1 | c.2442G>C (p.Leu814=) c.2448G>C (p.Leu816=) c.1155G>C (p.Leu385=) n.841G>C n.1595G>C c.2847G>C (p.Leu949=) c.2550G>C (p.Leu850=) c.768G>C (p.Leu256=) c.2358G>C (p.Leu786=) c.2082G>C (p.Leu694=) c.2346G>C (p.Leu782=) c.2544G>C (p.Leu848=) c.2949G>C (p.Leu983=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.22903846C>T | CA267616573 | CYFIP1 | c.2442G>A (p.Leu814=) c.2448G>A (p.Leu816=) c.1155G>A (p.Leu385=) n.841G>A n.1595G>A c.2847G>A (p.Leu949=) c.2550G>A (p.Leu850=) c.768G>A (p.Leu256=) c.2358G>A (p.Leu786=) c.2082G>A (p.Leu694=) c.2346G>A (p.Leu782=) c.2544G>A (p.Leu848=) c.2949G>A (p.Leu983=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.22903847A>C | CA391334685 | CYFIP1 | c.2441T>G (p.Leu814Arg) c.2447T>G (p.Leu816Arg) c.1154T>G (p.Leu385Arg) n.840T>G n.1594T>G c.2846T>G (p.Leu949Arg) c.2549T>G (p.Leu850Arg) c.767T>G (p.Leu256Arg) c.2357T>G (p.Leu786Arg) c.2081T>G (p.Leu694Arg) c.2345T>G (p.Leu782Arg) c.2543T>G (p.Leu848Arg) c.2948T>G (p.Leu983Arg) | |
| 15 | g.22903847A>G | CA391334687 | CYFIP1 | c.2441T>C (p.Leu814Pro) c.2447T>C (p.Leu816Pro) c.1154T>C (p.Leu385Pro) n.840T>C n.1594T>C c.2846T>C (p.Leu949Pro) c.2549T>C (p.Leu850Pro) c.767T>C (p.Leu256Pro) c.2357T>C (p.Leu786Pro) c.2081T>C (p.Leu694Pro) c.2345T>C (p.Leu782Pro) c.2543T>C (p.Leu848Pro) c.2948T>C (p.Leu983Pro) | |
| 15 | g.22903847A>T | CA391334684 | CYFIP1 | c.2441T>A (p.Leu814Gln) c.2447T>A (p.Leu816Gln) c.1154T>A (p.Leu385Gln) n.840T>A n.1594T>A c.2846T>A (p.Leu949Gln) c.2549T>A (p.Leu850Gln) c.767T>A (p.Leu256Gln) c.2357T>A (p.Leu786Gln) c.2081T>A (p.Leu694Gln) c.2345T>A (p.Leu782Gln) c.2543T>A (p.Leu848Gln) c.2948T>A (p.Leu983Gln) | |
| 15 | g.22903848G>A | CA267616581 | CYFIP1 | c.2440C>T (p.Leu814=) c.2446C>T (p.Leu816=) c.1153C>T (p.Leu385=) n.839C>T n.1593C>T c.2845C>T (p.Leu949=) c.2548C>T (p.Leu850=) c.766C>T (p.Leu256=) c.2356C>T (p.Leu786=) c.2080C>T (p.Leu694=) c.2344C>T (p.Leu782=) c.2542C>T (p.Leu848=) c.2947C>T (p.Leu983=) | dbSNP |
| 15 | g.22903848G>C | CA391334690 | CYFIP1 | c.2440C>G (p.Leu814Val) c.2446C>G (p.Leu816Val) c.1153C>G (p.Leu385Val) n.839C>G n.1593C>G c.2845C>G (p.Leu949Val) c.2548C>G (p.Leu850Val) c.766C>G (p.Leu256Val) c.2356C>G (p.Leu786Val) c.2080C>G (p.Leu694Val) c.2344C>G (p.Leu782Val) c.2542C>G (p.Leu848Val) c.2947C>G (p.Leu983Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.22903848G= | CA2163978099 | CYFIP1 | c.2440C= (p.Leu814=) c.2446C= (p.Leu816=) c.1153C= (p.Leu385=) n.839C= n.1593C= c.2845C= (p.Leu949=) c.2548C= (p.Leu850=) c.766C= (p.Leu256=) c.2356C= (p.Leu786=) c.2080C= (p.Leu694=) c.2344C= (p.Leu782=) c.2542C= (p.Leu848=) c.2947C= (p.Leu983=) | |
| 15 | g.22903848G>T | CA391334691 | CYFIP1 | c.2440C>A (p.Leu814Met) c.2446C>A (p.Leu816Met) c.1153C>A (p.Leu385Met) n.839C>A n.1593C>A c.2845C>A (p.Leu949Met) c.2548C>A (p.Leu850Met) c.766C>A (p.Leu256Met) c.2356C>A (p.Leu786Met) c.2080C>A (p.Leu694Met) c.2344C>A (p.Leu782Met) c.2542C>A (p.Leu848Met) c.2947C>A (p.Leu983Met) | |
| 15 | g.22903849G>A | CA267616583 | CYFIP1 | c.2439C>T (p.Tyr813=) c.2445C>T (p.Tyr815=) c.1152C>T (p.Tyr384=) n.838C>T n.1592C>T c.2844C>T (p.Tyr948=) c.2547C>T (p.Tyr849=) c.765C>T (p.Tyr255=) c.2355C>T (p.Tyr785=) c.2079C>T (p.Tyr693=) c.2343C>T (p.Tyr781=) c.2541C>T (p.Tyr847=) c.2946C>T (p.Tyr982=) | dbSNP gnomAD v3 gnomAD v4 |