WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.68195498C>A | CA208222822 | MYPN | c.2299C>A (p.Arg767Ser) c.3178C>A (p.Arg1060Ser) c.3124C>A (p.Arg1042Ser) c.*387C>A (n.*387C>A) c.*2395C>A (n.*2395C>A) c.2242C>A (p.Arg748Ser) n.2551C>A n.3253C>A c.3154C>A (p.Arg1052Ser) c.3202C>A (p.Arg1068Ser) c.2002C>A (p.Arg668Ser) n.2661C>A n.3198C>A | dbSNP gnomAD v4 |
| 10 | g.68195498C= | CA1917225576 | MYPN | c.2299C= (p.Arg767=) c.3178C= (p.Arg1060=) c.3124C= (p.Arg1042=) c.*387C= (n.*387C=) c.*2395C= (n.*2395C=) c.2242C= (p.Arg748=) n.2551C= n.3253C= c.3154C= (p.Arg1052=) c.3202C= (p.Arg1068=) c.2002C= (p.Arg668=) n.2661C= n.3198C= | |
| 10 | g.68195498C>G | CA376857545 | MYPN | c.2299C>G (p.Arg767Gly) c.3178C>G (p.Arg1060Gly) c.3124C>G (p.Arg1042Gly) c.*387C>G (n.*387C>G) c.*2395C>G (n.*2395C>G) c.2242C>G (p.Arg748Gly) n.2551C>G n.3253C>G c.3154C>G (p.Arg1052Gly) c.3202C>G (p.Arg1068Gly) c.2002C>G (p.Arg668Gly) n.2661C>G n.3198C>G | |
| 10 | g.68195498C>T | CA345856 | MYPN | c.2299C>T (p.Arg767Cys) c.3178C>T (p.Arg1060Cys) c.3124C>T (p.Arg1042Cys) c.*387C>T (n.*387C>T) c.*2395C>T (n.*2395C>T) c.2242C>T (p.Arg748Cys) n.2551C>T n.3253C>T c.3154C>T (p.Arg1052Cys) c.3202C>T (p.Arg1068Cys) c.2002C>T (p.Arg668Cys) n.2661C>T n.3198C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.68195499G>A | CA5522952 | MYPN | c.2300G>A (p.Arg767His) c.3179G>A (p.Arg1060His) c.3125G>A (p.Arg1042His) c.*388G>A (n.*388G>A) c.*2396G>A (n.*2396G>A) c.2243G>A (p.Arg748His) n.2552G>A n.3254G>A c.3155G>A (p.Arg1052His) c.3203G>A (p.Arg1068His) c.2003G>A (p.Arg668His) n.2662G>A n.3199G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.68195499G>C | CA376857553 | MYPN | c.2300G>C (p.Arg767Pro) c.3179G>C (p.Arg1060Pro) c.3125G>C (p.Arg1042Pro) c.*388G>C (n.*388G>C) c.*2396G>C (n.*2396G>C) c.2243G>C (p.Arg748Pro) n.2552G>C n.3254G>C c.3155G>C (p.Arg1052Pro) c.3203G>C (p.Arg1068Pro) c.2003G>C (p.Arg668Pro) n.2662G>C n.3199G>C | |
| 10 | g.68195499G= | CA1917225577 | MYPN | c.2300G= (p.Arg767=) c.3179G= (p.Arg1060=) c.3125G= (p.Arg1042=) c.*388G= (n.*388G=) c.*2396G= (n.*2396G=) c.2243G= (p.Arg748=) n.2552G= n.3254G= c.3155G= (p.Arg1052=) c.3203G= (p.Arg1068=) c.2003G= (p.Arg668=) n.2662G= n.3199G= | |
| 10 | g.68195499G>T | CA376857555 | MYPN | c.2300G>T (p.Arg767Leu) c.3179G>T (p.Arg1060Leu) c.3125G>T (p.Arg1042Leu) c.*388G>T (n.*388G>T) c.*2396G>T (n.*2396G>T) c.2243G>T (p.Arg748Leu) n.2552G>T n.3254G>T c.3155G>T (p.Arg1052Leu) c.3203G>T (p.Arg1068Leu) c.2003G>T (p.Arg668Leu) n.2662G>T n.3199G>T | ClinVar gnomAD v4 |
| 10 | g.68195500C>A | CA469812158 | MYPN | c.2301C>A (p.Arg767=) c.3180C>A (p.Arg1060=) c.3126C>A (p.Arg1042=) c.*389C>A (n.*389C>A) c.*2397C>A (n.*2397C>A) c.2244C>A (p.Arg748=) n.2553C>A n.3255C>A c.3156C>A (p.Arg1052=) c.3204C>A (p.Arg1068=) c.2004C>A (p.Arg668=) n.2663C>A n.3200C>A | |
| 10 | g.68195500C>G | CA469812159 | MYPN | c.2301C>G (p.Arg767=) c.3180C>G (p.Arg1060=) c.3126C>G (p.Arg1042=) c.*389C>G (n.*389C>G) c.*2397C>G (n.*2397C>G) c.2244C>G (p.Arg748=) n.2553C>G n.3255C>G c.3156C>G (p.Arg1052=) c.3204C>G (p.Arg1068=) c.2004C>G (p.Arg668=) n.2663C>G n.3200C>G | |
| 10 | g.68195500C>T | CA469812160 | MYPN | c.2301C>T (p.Arg767=) c.3180C>T (p.Arg1060=) c.3126C>T (p.Arg1042=) c.*389C>T (n.*389C>T) c.*2397C>T (n.*2397C>T) c.2244C>T (p.Arg748=) n.2553C>T n.3255C>T c.3156C>T (p.Arg1052=) c.3204C>T (p.Arg1068=) c.2004C>T (p.Arg668=) n.2663C>T n.3200C>T | |
| 10 | g.68195500_68195501delinsCA | CA1917225578 | MYPN | c.2301_2302delinsCA (p.Arg767=) c.3180_3181delinsCA (p.Arg1060=) c.3126_3127delinsCA (p.Arg1042=) c.*389_*390delinsCA (n.*389_*390delinsCA) c.*2397_*2398delinsCA (n.*2397_*2398delinsCA) c.2244_2245delinsCA (p.Arg748=) n.2553_2554delinsCA n.3255_3256delinsCA c.3156_3157delinsCA (p.Arg1052=) c.3204_3205delinsCA (p.Arg1068=) c.2004_2005delinsCA (p.Arg668=) n.2663_2664delinsCA n.3200_3201delinsCA | |
| 10 | g.68195501del | CA915945941 | MYPN | c.2302del (p.Ser768ValfsTer3) c.3181del (p.Ser1061ValfsTer3) c.3127del (p.Ser1043ValfsTer3) c.*390del (n.*390del) c.*2398del (n.*2398del) c.2245del (p.Ser749ValfsTer3) n.2554del n.3256del c.3157del (p.Ser1053ValfsTer3) c.3205del (p.Ser1069ValfsTer3) c.2005del (p.Ser669ValfsTer3) n.2664del n.3201del | ClinVar dbSNP gnomAD v4 |
| 10 | g.68195501A>C | CA376857558 | MYPN | c.2302A>C (p.Ser768Arg) c.3181A>C (p.Ser1061Arg) c.3127A>C (p.Ser1043Arg) c.*390A>C (n.*390A>C) c.*2398A>C (n.*2398A>C) c.2245A>C (p.Ser749Arg) n.2554A>C n.3256A>C c.3157A>C (p.Ser1053Arg) c.3205A>C (p.Ser1069Arg) c.2005A>C (p.Ser669Arg) n.2664A>C n.3201A>C | |
| 10 | g.68195501A>G | CA376857560 | MYPN | c.2302A>G (p.Ser768Gly) c.3181A>G (p.Ser1061Gly) c.3127A>G (p.Ser1043Gly) c.*390A>G (n.*390A>G) c.*2398A>G (n.*2398A>G) c.2245A>G (p.Ser749Gly) n.2554A>G n.3256A>G c.3157A>G (p.Ser1053Gly) c.3205A>G (p.Ser1069Gly) c.2005A>G (p.Ser669Gly) n.2664A>G n.3201A>G | |
| 10 | g.68195501A>T | CA376857562 | MYPN | c.2302A>T (p.Ser768Cys) c.3181A>T (p.Ser1061Cys) c.3127A>T (p.Ser1043Cys) c.*390A>T (n.*390A>T) c.*2398A>T (n.*2398A>T) c.2245A>T (p.Ser749Cys) n.2554A>T n.3256A>T c.3157A>T (p.Ser1053Cys) c.3205A>T (p.Ser1069Cys) c.2005A>T (p.Ser669Cys) n.2664A>T n.3201A>T | |
| 10 | g.68195502G>A | CA5522954 | MYPN | c.2303G>A (p.Ser768Asn) c.3182G>A (p.Ser1061Asn) c.3128G>A (p.Ser1043Asn) c.*391G>A (n.*391G>A) c.*2399G>A (n.*2399G>A) c.2246G>A (p.Ser749Asn) n.2555G>A n.3257G>A c.3158G>A (p.Ser1053Asn) c.3206G>A (p.Ser1069Asn) c.2006G>A (p.Ser669Asn) n.2665G>A n.3202G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.68195502G>C | CA376857567 | MYPN | c.2303G>C (p.Ser768Thr) c.3182G>C (p.Ser1061Thr) c.3128G>C (p.Ser1043Thr) c.*391G>C (n.*391G>C) c.*2399G>C (n.*2399G>C) c.2246G>C (p.Ser749Thr) n.2555G>C n.3257G>C c.3158G>C (p.Ser1053Thr) c.3206G>C (p.Ser1069Thr) c.2006G>C (p.Ser669Thr) n.2665G>C n.3202G>C | dbSNP |
| 10 | g.68195502G= | CA1917225579 | MYPN | c.2303G= (p.Ser768=) c.3182G= (p.Ser1061=) c.3128G= (p.Ser1043=) c.*391G= (n.*391G=) c.*2399G= (n.*2399G=) c.2246G= (p.Ser749=) n.2555G= n.3257G= c.3158G= (p.Ser1053=) c.3206G= (p.Ser1069=) c.2006G= (p.Ser669=) n.2665G= n.3202G= | |
| 10 | g.68195502G>T | CA5522953 | MYPN | c.2303G>T (p.Ser768Ile) c.3182G>T (p.Ser1061Ile) c.3128G>T (p.Ser1043Ile) c.*391G>T (n.*391G>T) c.*2399G>T (n.*2399G>T) c.2246G>T (p.Ser749Ile) n.2555G>T n.3257G>T c.3158G>T (p.Ser1053Ile) c.3206G>T (p.Ser1069Ile) c.2006G>T (p.Ser669Ile) n.2665G>T n.3202G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.68195503T>A | CA376857574 | MYPN | c.2304T>A (p.Ser768Arg) c.3183T>A (p.Ser1061Arg) c.3129T>A (p.Ser1043Arg) c.*392T>A (n.*392T>A) c.*2400T>A (n.*2400T>A) c.2247T>A (p.Ser749Arg) n.2556T>A n.3258T>A c.3159T>A (p.Ser1053Arg) c.3207T>A (p.Ser1069Arg) c.2007T>A (p.Ser669Arg) n.2666T>A n.3203T>A | |
| 10 | g.68195503T>C | CA469812161 | MYPN | c.2304T>C (p.Ser768=) c.3183T>C (p.Ser1061=) c.3129T>C (p.Ser1043=) c.*392T>C (n.*392T>C) c.*2400T>C (n.*2400T>C) c.2247T>C (p.Ser749=) n.2556T>C n.3258T>C c.3159T>C (p.Ser1053=) c.3207T>C (p.Ser1069=) c.2007T>C (p.Ser669=) n.2666T>C n.3203T>C | |
| 10 | g.68195503T>G | CA376857577 | MYPN | c.2304T>G (p.Ser768Arg) c.3183T>G (p.Ser1061Arg) c.3129T>G (p.Ser1043Arg) c.*392T>G (n.*392T>G) c.*2400T>G (n.*2400T>G) c.2247T>G (p.Ser749Arg) n.2556T>G n.3258T>G c.3159T>G (p.Ser1053Arg) c.3207T>G (p.Ser1069Arg) c.2007T>G (p.Ser669Arg) n.2666T>G n.3203T>G | |
| 10 | g.68195504C>A | CA469812162 | MYPN | c.2305C>A (p.Arg769=) c.3184C>A (p.Arg1062=) c.3130C>A (p.Arg1044=) c.*393C>A (n.*393C>A) c.*2401C>A (n.*2401C>A) c.2248C>A (p.Arg750=) n.2557C>A n.3259C>A c.3160C>A (p.Arg1054=) c.3208C>A (p.Arg1070=) c.2008C>A (p.Arg670=) n.2667C>A n.3204C>A | dbSNP COSMIC |
| 10 | g.68195504C= | CA1917225580 | MYPN | c.2305C= (p.Arg769=) c.3184C= (p.Arg1062=) c.3130C= (p.Arg1044=) c.*393C= (n.*393C=) c.*2401C= (n.*2401C=) c.2248C= (p.Arg750=) n.2557C= n.3259C= c.3160C= (p.Arg1054=) c.3208C= (p.Arg1070=) c.2008C= (p.Arg670=) n.2667C= n.3204C= | |
| 10 | g.68195504C>G | CA376857579 | MYPN | c.2305C>G (p.Arg769Gly) c.3184C>G (p.Arg1062Gly) c.3130C>G (p.Arg1044Gly) c.*393C>G (n.*393C>G) c.*2401C>G (n.*2401C>G) c.2248C>G (p.Arg750Gly) n.2557C>G n.3259C>G c.3160C>G (p.Arg1054Gly) c.3208C>G (p.Arg1070Gly) c.2008C>G (p.Arg670Gly) n.2667C>G n.3204C>G | |
| 10 | g.68195504C>T | CA5522955 | MYPN | c.2305C>T (p.Arg769Trp) c.3184C>T (p.Arg1062Trp) c.3130C>T (p.Arg1044Trp) c.*393C>T (n.*393C>T) c.*2401C>T (n.*2401C>T) c.2248C>T (p.Arg750Trp) n.2557C>T n.3259C>T c.3160C>T (p.Arg1054Trp) c.3208C>T (p.Arg1070Trp) c.2008C>T (p.Arg670Trp) n.2667C>T n.3204C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.68195505G>A | CA335316 | MYPN | c.2306G>A (p.Arg769Gln) c.3185G>A (p.Arg1062Gln) c.3131G>A (p.Arg1044Gln) c.*394G>A (n.*394G>A) c.*2402G>A (n.*2402G>A) c.2249G>A (p.Arg750Gln) n.2558G>A n.3260G>A c.3161G>A (p.Arg1054Gln) c.3209G>A (p.Arg1070Gln) c.2009G>A (p.Arg670Gln) n.2668G>A n.3205G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.68195505G>C | CA376857582 | MYPN | c.2306G>C (p.Arg769Pro) c.3185G>C (p.Arg1062Pro) c.3131G>C (p.Arg1044Pro) c.*394G>C (n.*394G>C) c.*2402G>C (n.*2402G>C) c.2249G>C (p.Arg750Pro) n.2558G>C n.3260G>C c.3161G>C (p.Arg1054Pro) c.3209G>C (p.Arg1070Pro) c.2009G>C (p.Arg670Pro) n.2668G>C n.3205G>C | |
| 10 | g.68195505G= | CA1917225581 | MYPN | c.2306G= (p.Arg769=) c.3185G= (p.Arg1062=) c.3131G= (p.Arg1044=) c.*394G= (n.*394G=) c.*2402G= (n.*2402G=) c.2249G= (p.Arg750=) n.2558G= n.3260G= c.3161G= (p.Arg1054=) c.3209G= (p.Arg1070=) c.2009G= (p.Arg670=) n.2668G= n.3205G= | |
| 10 | g.68195505G>T | CA376857584 | MYPN | c.2306G>T (p.Arg769Leu) c.3185G>T (p.Arg1062Leu) c.3131G>T (p.Arg1044Leu) c.*394G>T (n.*394G>T) c.*2402G>T (n.*2402G>T) c.2249G>T (p.Arg750Leu) n.2558G>T n.3260G>T c.3161G>T (p.Arg1054Leu) c.3209G>T (p.Arg1070Leu) c.2009G>T (p.Arg670Leu) n.2668G>T n.3205G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.68195506G>A | CA469812163 | MYPN | c.2307G>A (p.Arg769=) c.3186G>A (p.Arg1062=) c.3132G>A (p.Arg1044=) c.*395G>A (n.*395G>A) c.*2403G>A (n.*2403G>A) c.2250G>A (p.Arg750=) n.2559G>A n.3261G>A c.3162G>A (p.Arg1054=) c.3210G>A (p.Arg1070=) c.2010G>A (p.Arg670=) n.2669G>A n.3206G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.68195506G>C | CA469812164 | MYPN | c.2307G>C (p.Arg769=) c.3186G>C (p.Arg1062=) c.3132G>C (p.Arg1044=) c.*395G>C (n.*395G>C) c.*2403G>C (n.*2403G>C) c.2250G>C (p.Arg750=) n.2559G>C n.3261G>C c.3162G>C (p.Arg1054=) c.3210G>C (p.Arg1070=) c.2010G>C (p.Arg670=) n.2669G>C n.3206G>C | |
| 10 | g.68195506G= | CA1917225582 | MYPN | c.2307G= (p.Arg769=) c.3186G= (p.Arg1062=) c.3132G= (p.Arg1044=) c.*395G= (n.*395G=) c.*2403G= (n.*2403G=) c.2250G= (p.Arg750=) n.2559G= n.3261G= c.3162G= (p.Arg1054=) c.3210G= (p.Arg1070=) c.2010G= (p.Arg670=) n.2669G= n.3206G= | |
| 10 | g.68195506G>T | CA469812165 | MYPN | c.2307G>T (p.Arg769=) c.3186G>T (p.Arg1062=) c.3132G>T (p.Arg1044=) c.*395G>T (n.*395G>T) c.*2403G>T (n.*2403G>T) c.2250G>T (p.Arg750=) n.2559G>T n.3261G>T c.3162G>T (p.Arg1054=) c.3210G>T (p.Arg1070=) c.2010G>T (p.Arg670=) n.2669G>T n.3206G>T | |
| 10 | g.68195507C>A | CA376857592 | MYPN | c.2308C>A (p.Leu770Ile) c.3187C>A (p.Leu1063Ile) c.3133C>A (p.Leu1045Ile) c.*396C>A (n.*396C>A) c.*2404C>A (n.*2404C>A) c.2251C>A (p.Leu751Ile) n.2560C>A n.3262C>A c.3163C>A (p.Leu1055Ile) c.3211C>A (p.Leu1071Ile) c.2011C>A (p.Leu671Ile) n.2670C>A n.3207C>A | |
| 10 | g.68195507C>G | CA376857599 | MYPN | c.2308C>G (p.Leu770Val) c.3187C>G (p.Leu1063Val) c.3133C>G (p.Leu1045Val) c.*396C>G (n.*396C>G) c.*2404C>G (n.*2404C>G) c.2251C>G (p.Leu751Val) n.2560C>G n.3262C>G c.3163C>G (p.Leu1055Val) c.3211C>G (p.Leu1071Val) c.2011C>G (p.Leu671Val) n.2670C>G n.3207C>G | |
| 10 | g.68195507C>T | CA469812166 | MYPN | c.2308C>T (p.Leu770=) c.3187C>T (p.Leu1063=) c.3133C>T (p.Leu1045=) c.*396C>T (n.*396C>T) c.*2404C>T (n.*2404C>T) c.2251C>T (p.Leu751=) n.2560C>T n.3262C>T c.3163C>T (p.Leu1055=) c.3211C>T (p.Leu1071=) c.2011C>T (p.Leu671=) n.2670C>T n.3207C>T | |
| 10 | g.68195508T>A | CA376857603 | MYPN | c.2309T>A (p.Leu770Gln) c.3188T>A (p.Leu1063Gln) c.3134T>A (p.Leu1045Gln) c.*397T>A (n.*397T>A) c.*2405T>A (n.*2405T>A) c.2252T>A (p.Leu751Gln) n.2561T>A n.3263T>A c.3164T>A (p.Leu1055Gln) c.3212T>A (p.Leu1071Gln) c.2012T>A (p.Leu671Gln) n.2671T>A n.3208T>A | |
| 10 | g.68195508T>C | CA376857614 | MYPN | c.2309T>C (p.Leu770Pro) c.3188T>C (p.Leu1063Pro) c.3134T>C (p.Leu1045Pro) c.*397T>C (n.*397T>C) c.*2405T>C (n.*2405T>C) c.2252T>C (p.Leu751Pro) n.2561T>C n.3263T>C c.3164T>C (p.Leu1055Pro) c.3212T>C (p.Leu1071Pro) c.2012T>C (p.Leu671Pro) n.2671T>C n.3208T>C | |
| 10 | g.68195508T>G | CA376857618 | MYPN | c.2309T>G (p.Leu770Arg) c.3188T>G (p.Leu1063Arg) c.3134T>G (p.Leu1045Arg) c.*397T>G (n.*397T>G) c.*2405T>G (n.*2405T>G) c.2252T>G (p.Leu751Arg) n.2561T>G n.3263T>G c.3164T>G (p.Leu1055Arg) c.3212T>G (p.Leu1071Arg) c.2012T>G (p.Leu671Arg) n.2671T>G n.3208T>G | |
| 10 | g.68195509A>C | CA469812167 | MYPN | c.2310A>C (p.Leu770=) c.3189A>C (p.Leu1063=) c.3135A>C (p.Leu1045=) c.*398A>C (n.*398A>C) c.*2406A>C (n.*2406A>C) c.2253A>C (p.Leu751=) n.2562A>C n.3264A>C c.3165A>C (p.Leu1055=) c.3213A>C (p.Leu1071=) c.2013A>C (p.Leu671=) n.2672A>C n.3209A>C | |
| 10 | g.68195509A>G | CA469812168 | MYPN | c.2310A>G (p.Leu770=) c.3189A>G (p.Leu1063=) c.3135A>G (p.Leu1045=) c.*398A>G (n.*398A>G) c.*2406A>G (n.*2406A>G) c.2253A>G (p.Leu751=) n.2562A>G n.3264A>G c.3165A>G (p.Leu1055=) c.3213A>G (p.Leu1071=) c.2013A>G (p.Leu671=) n.2672A>G n.3209A>G | gnomAD v4 |
| 10 | g.68195509A>T | CA469812169 | MYPN | c.2310A>T (p.Leu770=) c.3189A>T (p.Leu1063=) c.3135A>T (p.Leu1045=) c.*398A>T (n.*398A>T) c.*2406A>T (n.*2406A>T) c.2253A>T (p.Leu751=) n.2562A>T n.3264A>T c.3165A>T (p.Leu1055=) c.3213A>T (p.Leu1071=) c.2013A>T (p.Leu671=) n.2672A>T n.3209A>T | gnomAD v4 |
| 10 | g.68195510A= | CA1917225583 | MYPN | c.2311A= (p.Thr771=) c.3190A= (p.Thr1064=) c.3136A= (p.Thr1046=) c.*399A= (n.*399A=) c.*2407A= (n.*2407A=) c.2254A= (p.Thr752=) n.2563A= n.3265A= c.3166A= (p.Thr1056=) c.3214A= (p.Thr1072=) c.2014A= (p.Thr672=) n.2673A= n.3210A= | |
| 10 | g.68195510A>C | CA5522956 | MYPN | c.2311A>C (p.Thr771Pro) c.3190A>C (p.Thr1064Pro) c.3136A>C (p.Thr1046Pro) c.*399A>C (n.*399A>C) c.*2407A>C (n.*2407A>C) c.2254A>C (p.Thr752Pro) n.2563A>C n.3265A>C c.3166A>C (p.Thr1056Pro) c.3214A>C (p.Thr1072Pro) c.2014A>C (p.Thr672Pro) n.2673A>C n.3210A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.68195510A>G | CA376857624 | MYPN | c.2311A>G (p.Thr771Ala) c.3190A>G (p.Thr1064Ala) c.3136A>G (p.Thr1046Ala) c.*399A>G (n.*399A>G) c.*2407A>G (n.*2407A>G) c.2254A>G (p.Thr752Ala) n.2563A>G n.3265A>G c.3166A>G (p.Thr1056Ala) c.3214A>G (p.Thr1072Ala) c.2014A>G (p.Thr672Ala) n.2673A>G n.3210A>G | |
| 10 | g.68195510A>T | CA376857622 | MYPN | c.2311A>T (p.Thr771Ser) c.3190A>T (p.Thr1064Ser) c.3136A>T (p.Thr1046Ser) c.*399A>T (n.*399A>T) c.*2407A>T (n.*2407A>T) c.2254A>T (p.Thr752Ser) n.2563A>T n.3265A>T c.3166A>T (p.Thr1056Ser) c.3214A>T (p.Thr1072Ser) c.2014A>T (p.Thr672Ser) n.2673A>T n.3210A>T | |
| 10 | g.68195511C>A | CA376857626 | MYPN | c.2312C>A (p.Thr771Asn) c.3191C>A (p.Thr1064Asn) c.3137C>A (p.Thr1046Asn) c.*400C>A (n.*400C>A) c.*2408C>A (n.*2408C>A) c.2255C>A (p.Thr752Asn) n.2564C>A n.3266C>A c.3167C>A (p.Thr1056Asn) c.3215C>A (p.Thr1072Asn) c.2015C>A (p.Thr672Asn) n.2674C>A n.3211C>A | gnomAD v4 |
| 10 | g.68195511C= | CA1917225584 | MYPN | c.2312C= (p.Thr771=) c.3191C= (p.Thr1064=) c.3137C= (p.Thr1046=) c.*400C= (n.*400C=) c.*2408C= (n.*2408C=) c.2255C= (p.Thr752=) n.2564C= n.3266C= c.3167C= (p.Thr1056=) c.3215C= (p.Thr1072=) c.2015C= (p.Thr672=) n.2674C= n.3211C= |