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 |
|---|---|---|---|---|---|
| 2 | g.178577995G>A | CA430259666 | TTN,TTN-AS1 | c.60816C>T (p.Asp20272=) c.41901C>T (p.Asp13967=) c.41700C>T (p.Asp13900=) c.41325C>T (p.Asp13775=) c.68520C>T (p.Asp22840=) c.63597C>T (p.Asp21199=) n.596+6546G>A n.2044-4577G>A c.67617C>T (p.Asp22539=) c.41511C>T (p.Asp13837=) c.41370C>T (p.Asp13790=) c.67413C>T (p.Asp22471=) c.62811C>T (p.Asp20937=) c.62808C>T (p.Asp20936=) c.59850C>T (p.Asp19950=) c.41466C>T (p.Asp13822=) c.62961C>T (p.Asp20987=) c.62958C>T (p.Asp20986=) c.62391C>T (p.Asp20797=) c.59733C>T (p.Asp19911=) c.59652C>T (p.Asp19884=) c.41415C>T (p.Asp13805=) c.31269C>T (p.Asp10423=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178577995G>C | CA349672159 | TTN,TTN-AS1 | c.60816C>G (p.Asp20272Glu) c.41901C>G (p.Asp13967Glu) c.41700C>G (p.Asp13900Glu) c.41325C>G (p.Asp13775Glu) c.68520C>G (p.Asp22840Glu) c.63597C>G (p.Asp21199Glu) n.596+6546G>C n.2044-4577G>C c.67617C>G (p.Asp22539Glu) c.41511C>G (p.Asp13837Glu) c.41370C>G (p.Asp13790Glu) c.67413C>G (p.Asp22471Glu) c.62811C>G (p.Asp20937Glu) c.62808C>G (p.Asp20936Glu) c.59850C>G (p.Asp19950Glu) c.41466C>G (p.Asp13822Glu) c.62961C>G (p.Asp20987Glu) c.62958C>G (p.Asp20986Glu) c.62391C>G (p.Asp20797Glu) c.59733C>G (p.Asp19911Glu) c.59652C>G (p.Asp19884Glu) c.41415C>G (p.Asp13805Glu) c.31269C>G (p.Asp10423Glu) | |
| 2 | g.178577995G= | CA1310534300 | TTN,TTN-AS1 | c.60816C= (p.Asp20272=) c.41901C= (p.Asp13967=) c.41700C= (p.Asp13900=) c.41325C= (p.Asp13775=) c.68520C= (p.Asp22840=) c.63597C= (p.Asp21199=) n.596+6546G= n.2044-4577G= c.67617C= (p.Asp22539=) c.41511C= (p.Asp13837=) c.41370C= (p.Asp13790=) c.67413C= (p.Asp22471=) c.62811C= (p.Asp20937=) c.62808C= (p.Asp20936=) c.59850C= (p.Asp19950=) c.41466C= (p.Asp13822=) c.62961C= (p.Asp20987=) c.62958C= (p.Asp20986=) c.62391C= (p.Asp20797=) c.59733C= (p.Asp19911=) c.59652C= (p.Asp19884=) c.41415C= (p.Asp13805=) c.31269C= (p.Asp10423=) | |
| 2 | g.178577995G>T | CA349672160 | TTN,TTN-AS1 | c.60816C>A (p.Asp20272Glu) c.41901C>A (p.Asp13967Glu) c.41700C>A (p.Asp13900Glu) c.41325C>A (p.Asp13775Glu) c.68520C>A (p.Asp22840Glu) c.63597C>A (p.Asp21199Glu) n.596+6546G>T n.2044-4577G>T c.67617C>A (p.Asp22539Glu) c.41511C>A (p.Asp13837Glu) c.41370C>A (p.Asp13790Glu) c.67413C>A (p.Asp22471Glu) c.62811C>A (p.Asp20937Glu) c.62808C>A (p.Asp20936Glu) c.59850C>A (p.Asp19950Glu) c.41466C>A (p.Asp13822Glu) c.62961C>A (p.Asp20987Glu) c.62958C>A (p.Asp20986Glu) c.62391C>A (p.Asp20797Glu) c.59733C>A (p.Asp19911Glu) c.59652C>A (p.Asp19884Glu) c.41415C>A (p.Asp13805Glu) c.31269C>A (p.Asp10423Glu) | gnomAD v4 |
| 2 | g.178577996T>A | CA349672164 | TTN,TTN-AS1 | c.60815A>T (p.Asp20272Val) c.41900A>T (p.Asp13967Val) c.41699A>T (p.Asp13900Val) c.41324A>T (p.Asp13775Val) c.68519A>T (p.Asp22840Val) c.63596A>T (p.Asp21199Val) n.596+6547T>A n.2044-4576T>A c.67616A>T (p.Asp22539Val) c.41510A>T (p.Asp13837Val) c.41369A>T (p.Asp13790Val) c.67412A>T (p.Asp22471Val) c.62810A>T (p.Asp20937Val) c.62807A>T (p.Asp20936Val) c.59849A>T (p.Asp19950Val) c.41465A>T (p.Asp13822Val) c.62960A>T (p.Asp20987Val) c.62957A>T (p.Asp20986Val) c.62390A>T (p.Asp20797Val) c.59732A>T (p.Asp19911Val) c.59651A>T (p.Asp19884Val) c.41414A>T (p.Asp13805Val) c.31268A>T (p.Asp10423Val) | |
| 2 | g.178577996T>C | CA349672167 | TTN,TTN-AS1 | c.60815A>G (p.Asp20272Gly) c.41900A>G (p.Asp13967Gly) c.41699A>G (p.Asp13900Gly) c.41324A>G (p.Asp13775Gly) c.68519A>G (p.Asp22840Gly) c.63596A>G (p.Asp21199Gly) n.596+6547T>C n.2044-4576T>C c.67616A>G (p.Asp22539Gly) c.41510A>G (p.Asp13837Gly) c.41369A>G (p.Asp13790Gly) c.67412A>G (p.Asp22471Gly) c.62810A>G (p.Asp20937Gly) c.62807A>G (p.Asp20936Gly) c.59849A>G (p.Asp19950Gly) c.41465A>G (p.Asp13822Gly) c.62960A>G (p.Asp20987Gly) c.62957A>G (p.Asp20986Gly) c.62390A>G (p.Asp20797Gly) c.59732A>G (p.Asp19911Gly) c.59651A>G (p.Asp19884Gly) c.41414A>G (p.Asp13805Gly) c.31268A>G (p.Asp10423Gly) | |
| 2 | g.178577996T>G | CA349672166 | TTN,TTN-AS1 | c.60815A>C (p.Asp20272Ala) c.41900A>C (p.Asp13967Ala) c.41699A>C (p.Asp13900Ala) c.41324A>C (p.Asp13775Ala) c.68519A>C (p.Asp22840Ala) c.63596A>C (p.Asp21199Ala) n.596+6547T>G n.2044-4576T>G c.67616A>C (p.Asp22539Ala) c.41510A>C (p.Asp13837Ala) c.41369A>C (p.Asp13790Ala) c.67412A>C (p.Asp22471Ala) c.62810A>C (p.Asp20937Ala) c.62807A>C (p.Asp20936Ala) c.59849A>C (p.Asp19950Ala) c.41465A>C (p.Asp13822Ala) c.62960A>C (p.Asp20987Ala) c.62957A>C (p.Asp20986Ala) c.62390A>C (p.Asp20797Ala) c.59732A>C (p.Asp19911Ala) c.59651A>C (p.Asp19884Ala) c.41414A>C (p.Asp13805Ala) c.31268A>C (p.Asp10423Ala) | |
| 2 | g.178577997C>A | CA349672169 | TTN,TTN-AS1 | c.60814G>T (p.Asp20272Tyr) c.41899G>T (p.Asp13967Tyr) c.41698G>T (p.Asp13900Tyr) c.41323G>T (p.Asp13775Tyr) c.68518G>T (p.Asp22840Tyr) c.63595G>T (p.Asp21199Tyr) n.596+6548C>A n.2044-4575C>A c.67615G>T (p.Asp22539Tyr) c.41509G>T (p.Asp13837Tyr) c.41368G>T (p.Asp13790Tyr) c.67411G>T (p.Asp22471Tyr) c.62809G>T (p.Asp20937Tyr) c.62806G>T (p.Asp20936Tyr) c.59848G>T (p.Asp19950Tyr) c.41464G>T (p.Asp13822Tyr) c.62959G>T (p.Asp20987Tyr) c.62956G>T (p.Asp20986Tyr) c.62389G>T (p.Asp20797Tyr) c.59731G>T (p.Asp19911Tyr) c.59650G>T (p.Asp19884Tyr) c.41413G>T (p.Asp13805Tyr) c.31267G>T (p.Asp10423Tyr) | |
| 2 | g.178577997C>G | CA349672170 | TTN,TTN-AS1 | c.60814G>C (p.Asp20272His) c.41899G>C (p.Asp13967His) c.41698G>C (p.Asp13900His) c.41323G>C (p.Asp13775His) c.68518G>C (p.Asp22840His) c.63595G>C (p.Asp21199His) n.596+6548C>G n.2044-4575C>G c.67615G>C (p.Asp22539His) c.41509G>C (p.Asp13837His) c.41368G>C (p.Asp13790His) c.67411G>C (p.Asp22471His) c.62809G>C (p.Asp20937His) c.62806G>C (p.Asp20936His) c.59848G>C (p.Asp19950His) c.41464G>C (p.Asp13822His) c.62959G>C (p.Asp20987His) c.62956G>C (p.Asp20986His) c.62389G>C (p.Asp20797His) c.59731G>C (p.Asp19911His) c.59650G>C (p.Asp19884His) c.41413G>C (p.Asp13805His) c.31267G>C (p.Asp10423His) | |
| 2 | g.178577997C>T | CA349672173 | TTN,TTN-AS1 | c.60814G>A (p.Asp20272Asn) c.41899G>A (p.Asp13967Asn) c.41698G>A (p.Asp13900Asn) c.41323G>A (p.Asp13775Asn) c.68518G>A (p.Asp22840Asn) c.63595G>A (p.Asp21199Asn) n.596+6548C>T n.2044-4575C>T c.67615G>A (p.Asp22539Asn) c.41509G>A (p.Asp13837Asn) c.41368G>A (p.Asp13790Asn) c.67411G>A (p.Asp22471Asn) c.62809G>A (p.Asp20937Asn) c.62806G>A (p.Asp20936Asn) c.59848G>A (p.Asp19950Asn) c.41464G>A (p.Asp13822Asn) c.62959G>A (p.Asp20987Asn) c.62956G>A (p.Asp20986Asn) c.62389G>A (p.Asp20797Asn) c.59731G>A (p.Asp19911Asn) c.59650G>A (p.Asp19884Asn) c.41413G>A (p.Asp13805Asn) c.31267G>A (p.Asp10423Asn) | |
| 2 | g.178577998C>A | CA430259680 | TTN,TTN-AS1 | c.60813G>T (p.Leu20271=) c.41898G>T (p.Leu13966=) c.41697G>T (p.Leu13899=) c.41322G>T (p.Leu13774=) c.68517G>T (p.Leu22839=) c.63594G>T (p.Leu21198=) n.596+6549C>A n.2044-4574C>A c.67614G>T (p.Leu22538=) c.41508G>T (p.Leu13836=) c.41367G>T (p.Leu13789=) c.67410G>T (p.Leu22470=) c.62808G>T (p.Leu20936=) c.62805G>T (p.Leu20935=) c.59847G>T (p.Leu19949=) c.41463G>T (p.Leu13821=) c.62958G>T (p.Leu20986=) c.62955G>T (p.Leu20985=) c.62388G>T (p.Leu20796=) c.59730G>T (p.Leu19910=) c.59649G>T (p.Leu19883=) c.41412G>T (p.Leu13804=) c.31266G>T (p.Leu10422=) | |
| 2 | g.178577998C>G | CA430259681 | TTN,TTN-AS1 | c.60813G>C (p.Leu20271=) c.41898G>C (p.Leu13966=) c.41697G>C (p.Leu13899=) c.41322G>C (p.Leu13774=) c.68517G>C (p.Leu22839=) c.63594G>C (p.Leu21198=) n.596+6549C>G n.2044-4574C>G c.67614G>C (p.Leu22538=) c.41508G>C (p.Leu13836=) c.41367G>C (p.Leu13789=) c.67410G>C (p.Leu22470=) c.62808G>C (p.Leu20936=) c.62805G>C (p.Leu20935=) c.59847G>C (p.Leu19949=) c.41463G>C (p.Leu13821=) c.62958G>C (p.Leu20986=) c.62955G>C (p.Leu20985=) c.62388G>C (p.Leu20796=) c.59730G>C (p.Leu19910=) c.59649G>C (p.Leu19883=) c.41412G>C (p.Leu13804=) c.31266G>C (p.Leu10422=) | |
| 2 | g.178577998C>T | CA430259684 | TTN,TTN-AS1 | c.60813G>A (p.Leu20271=) c.41898G>A (p.Leu13966=) c.41697G>A (p.Leu13899=) c.41322G>A (p.Leu13774=) c.68517G>A (p.Leu22839=) c.63594G>A (p.Leu21198=) n.596+6549C>T n.2044-4574C>T c.67614G>A (p.Leu22538=) c.41508G>A (p.Leu13836=) c.41367G>A (p.Leu13789=) c.67410G>A (p.Leu22470=) c.62808G>A (p.Leu20936=) c.62805G>A (p.Leu20935=) c.59847G>A (p.Leu19949=) c.41463G>A (p.Leu13821=) c.62958G>A (p.Leu20986=) c.62955G>A (p.Leu20985=) c.62388G>A (p.Leu20796=) c.59730G>A (p.Leu19910=) c.59649G>A (p.Leu19883=) c.41412G>A (p.Leu13804=) c.31266G>A (p.Leu10422=) | gnomAD v4 |
| 2 | g.178577999A>C | CA349672175 | TTN,TTN-AS1 | c.60812T>G (p.Leu20271Arg) c.41897T>G (p.Leu13966Arg) c.41696T>G (p.Leu13899Arg) c.41321T>G (p.Leu13774Arg) c.68516T>G (p.Leu22839Arg) c.63593T>G (p.Leu21198Arg) n.596+6550A>C n.2044-4573A>C c.67613T>G (p.Leu22538Arg) c.41507T>G (p.Leu13836Arg) c.41366T>G (p.Leu13789Arg) c.67409T>G (p.Leu22470Arg) c.62807T>G (p.Leu20936Arg) c.62804T>G (p.Leu20935Arg) c.59846T>G (p.Leu19949Arg) c.41462T>G (p.Leu13821Arg) c.62957T>G (p.Leu20986Arg) c.62954T>G (p.Leu20985Arg) c.62387T>G (p.Leu20796Arg) c.59729T>G (p.Leu19910Arg) c.59648T>G (p.Leu19883Arg) c.41411T>G (p.Leu13804Arg) c.31265T>G (p.Leu10422Arg) | |
| 2 | g.178577999A>G | CA349672176 | TTN,TTN-AS1 | c.60812T>C (p.Leu20271Pro) c.41897T>C (p.Leu13966Pro) c.41696T>C (p.Leu13899Pro) c.41321T>C (p.Leu13774Pro) c.68516T>C (p.Leu22839Pro) c.63593T>C (p.Leu21198Pro) n.596+6550A>G n.2044-4573A>G c.67613T>C (p.Leu22538Pro) c.41507T>C (p.Leu13836Pro) c.41366T>C (p.Leu13789Pro) c.67409T>C (p.Leu22470Pro) c.62807T>C (p.Leu20936Pro) c.62804T>C (p.Leu20935Pro) c.59846T>C (p.Leu19949Pro) c.41462T>C (p.Leu13821Pro) c.62957T>C (p.Leu20986Pro) c.62954T>C (p.Leu20985Pro) c.62387T>C (p.Leu20796Pro) c.59729T>C (p.Leu19910Pro) c.59648T>C (p.Leu19883Pro) c.41411T>C (p.Leu13804Pro) c.31265T>C (p.Leu10422Pro) | gnomAD v4 |
| 2 | g.178577999A>T | CA349672180 | TTN,TTN-AS1 | c.60812T>A (p.Leu20271Gln) c.41897T>A (p.Leu13966Gln) c.41696T>A (p.Leu13899Gln) c.41321T>A (p.Leu13774Gln) c.68516T>A (p.Leu22839Gln) c.63593T>A (p.Leu21198Gln) n.596+6550A>T n.2044-4573A>T c.67613T>A (p.Leu22538Gln) c.41507T>A (p.Leu13836Gln) c.41366T>A (p.Leu13789Gln) c.67409T>A (p.Leu22470Gln) c.62807T>A (p.Leu20936Gln) c.62804T>A (p.Leu20935Gln) c.59846T>A (p.Leu19949Gln) c.41462T>A (p.Leu13821Gln) c.62957T>A (p.Leu20986Gln) c.62954T>A (p.Leu20985Gln) c.62387T>A (p.Leu20796Gln) c.59729T>A (p.Leu19910Gln) c.59648T>A (p.Leu19883Gln) c.41411T>A (p.Leu13804Gln) c.31265T>A (p.Leu10422Gln) | |
| 2 | g.178578000G>A | CA430259695 | TTN,TTN-AS1 | c.60811C>T (p.Leu20271=) c.41896C>T (p.Leu13966=) c.41695C>T (p.Leu13899=) c.41320C>T (p.Leu13774=) c.68515C>T (p.Leu22839=) c.63592C>T (p.Leu21198=) n.596+6551G>A n.2044-4572G>A c.67612C>T (p.Leu22538=) c.41506C>T (p.Leu13836=) c.41365C>T (p.Leu13789=) c.67408C>T (p.Leu22470=) c.62806C>T (p.Leu20936=) c.62803C>T (p.Leu20935=) c.59845C>T (p.Leu19949=) c.41461C>T (p.Leu13821=) c.62956C>T (p.Leu20986=) c.62953C>T (p.Leu20985=) c.62386C>T (p.Leu20796=) c.59728C>T (p.Leu19910=) c.59647C>T (p.Leu19883=) c.41410C>T (p.Leu13804=) c.31264C>T (p.Leu10422=) | |
| 2 | g.178578000G>C | CA349672181 | TTN,TTN-AS1 | c.60811C>G (p.Leu20271Val) c.41896C>G (p.Leu13966Val) c.41695C>G (p.Leu13899Val) c.41320C>G (p.Leu13774Val) c.68515C>G (p.Leu22839Val) c.63592C>G (p.Leu21198Val) n.596+6551G>C n.2044-4572G>C c.67612C>G (p.Leu22538Val) c.41506C>G (p.Leu13836Val) c.41365C>G (p.Leu13789Val) c.67408C>G (p.Leu22470Val) c.62806C>G (p.Leu20936Val) c.62803C>G (p.Leu20935Val) c.59845C>G (p.Leu19949Val) c.41461C>G (p.Leu13821Val) c.62956C>G (p.Leu20986Val) c.62953C>G (p.Leu20985Val) c.62386C>G (p.Leu20796Val) c.59728C>G (p.Leu19910Val) c.59647C>G (p.Leu19883Val) c.41410C>G (p.Leu13804Val) c.31264C>G (p.Leu10422Val) | gnomAD v4 |
| 2 | g.178578000G>T | CA349672182 | TTN,TTN-AS1 | c.60811C>A (p.Leu20271Met) c.41896C>A (p.Leu13966Met) c.41695C>A (p.Leu13899Met) c.41320C>A (p.Leu13774Met) c.68515C>A (p.Leu22839Met) c.63592C>A (p.Leu21198Met) n.596+6551G>T n.2044-4572G>T c.67612C>A (p.Leu22538Met) c.41506C>A (p.Leu13836Met) c.41365C>A (p.Leu13789Met) c.67408C>A (p.Leu22470Met) c.62806C>A (p.Leu20936Met) c.62803C>A (p.Leu20935Met) c.59845C>A (p.Leu19949Met) c.41461C>A (p.Leu13821Met) c.62956C>A (p.Leu20986Met) c.62953C>A (p.Leu20985Met) c.62386C>A (p.Leu20796Met) c.59728C>A (p.Leu19910Met) c.59647C>A (p.Leu19883Met) c.41410C>A (p.Leu13804Met) c.31264C>A (p.Leu10422Met) | COSMIC COSMIC COSMIC |
| 2 | g.178578001T>A | CA430259699 | TTN,TTN-AS1 | c.60810A>T (p.Ala20270=) c.41895A>T (p.Ala13965=) c.41694A>T (p.Ala13898=) c.41319A>T (p.Ala13773=) c.68514A>T (p.Ala22838=) c.63591A>T (p.Ala21197=) n.596+6552T>A n.2044-4571T>A c.67611A>T (p.Ala22537=) c.41505A>T (p.Ala13835=) c.41364A>T (p.Ala13788=) c.67407A>T (p.Ala22469=) c.62805A>T (p.Ala20935=) c.62802A>T (p.Ala20934=) c.59844A>T (p.Ala19948=) c.41460A>T (p.Ala13820=) c.62955A>T (p.Ala20985=) c.62952A>T (p.Ala20984=) c.62385A>T (p.Ala20795=) c.59727A>T (p.Ala19909=) c.59646A>T (p.Ala19882=) c.41409A>T (p.Ala13803=) c.31263A>T (p.Ala10421=) | |
| 2 | g.178578001T>C | CA430259700 | TTN,TTN-AS1 | c.60810A>G (p.Ala20270=) c.41895A>G (p.Ala13965=) c.41694A>G (p.Ala13898=) c.41319A>G (p.Ala13773=) c.68514A>G (p.Ala22838=) c.63591A>G (p.Ala21197=) n.596+6552T>C n.2044-4571T>C c.67611A>G (p.Ala22537=) c.41505A>G (p.Ala13835=) c.41364A>G (p.Ala13788=) c.67407A>G (p.Ala22469=) c.62805A>G (p.Ala20935=) c.62802A>G (p.Ala20934=) c.59844A>G (p.Ala19948=) c.41460A>G (p.Ala13820=) c.62955A>G (p.Ala20985=) c.62952A>G (p.Ala20984=) c.62385A>G (p.Ala20795=) c.59727A>G (p.Ala19909=) c.59646A>G (p.Ala19882=) c.41409A>G (p.Ala13803=) c.31263A>G (p.Ala10421=) | |
| 2 | g.178578001T>G | CA430259701 | TTN,TTN-AS1 | c.60810A>C (p.Ala20270=) c.41895A>C (p.Ala13965=) c.41694A>C (p.Ala13898=) c.41319A>C (p.Ala13773=) c.68514A>C (p.Ala22838=) c.63591A>C (p.Ala21197=) n.596+6552T>G n.2044-4571T>G c.67611A>C (p.Ala22537=) c.41505A>C (p.Ala13835=) c.41364A>C (p.Ala13788=) c.67407A>C (p.Ala22469=) c.62805A>C (p.Ala20935=) c.62802A>C (p.Ala20934=) c.59844A>C (p.Ala19948=) c.41460A>C (p.Ala13820=) c.62955A>C (p.Ala20985=) c.62952A>C (p.Ala20984=) c.62385A>C (p.Ala20795=) c.59727A>C (p.Ala19909=) c.59646A>C (p.Ala19882=) c.41409A>C (p.Ala13803=) c.31263A>C (p.Ala10421=) | gnomAD v4 |
| 2 | g.178578002G>A | CA1991092 | TTN,TTN-AS1 | c.60809C>T (p.Ala20270Val) c.41894C>T (p.Ala13965Val) c.41693C>T (p.Ala13898Val) c.41318C>T (p.Ala13773Val) c.68513C>T (p.Ala22838Val) c.63590C>T (p.Ala21197Val) n.596+6553G>A n.2044-4570G>A c.67610C>T (p.Ala22537Val) c.41504C>T (p.Ala13835Val) c.41363C>T (p.Ala13788Val) c.67406C>T (p.Ala22469Val) c.62804C>T (p.Ala20935Val) c.62801C>T (p.Ala20934Val) c.59843C>T (p.Ala19948Val) c.41459C>T (p.Ala13820Val) c.62954C>T (p.Ala20985Val) c.62951C>T (p.Ala20984Val) c.62384C>T (p.Ala20795Val) c.59726C>T (p.Ala19909Val) c.59645C>T (p.Ala19882Val) c.41408C>T (p.Ala13803Val) c.31262C>T (p.Ala10421Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178578002G>C | CA349672187 | TTN,TTN-AS1 | c.60809C>G (p.Ala20270Gly) c.41894C>G (p.Ala13965Gly) c.41693C>G (p.Ala13898Gly) c.41318C>G (p.Ala13773Gly) c.68513C>G (p.Ala22838Gly) c.63590C>G (p.Ala21197Gly) n.596+6553G>C n.2044-4570G>C c.67610C>G (p.Ala22537Gly) c.41504C>G (p.Ala13835Gly) c.41363C>G (p.Ala13788Gly) c.67406C>G (p.Ala22469Gly) c.62804C>G (p.Ala20935Gly) c.62801C>G (p.Ala20934Gly) c.59843C>G (p.Ala19948Gly) c.41459C>G (p.Ala13820Gly) c.62954C>G (p.Ala20985Gly) c.62951C>G (p.Ala20984Gly) c.62384C>G (p.Ala20795Gly) c.59726C>G (p.Ala19909Gly) c.59645C>G (p.Ala19882Gly) c.41408C>G (p.Ala13803Gly) c.31262C>G (p.Ala10421Gly) | |
| 2 | g.178578002G= | CA1310534302 | TTN,TTN-AS1 | c.60809C= (p.Ala20270=) c.41894C= (p.Ala13965=) c.41693C= (p.Ala13898=) c.41318C= (p.Ala13773=) c.68513C= (p.Ala22838=) c.63590C= (p.Ala21197=) n.596+6553G= n.2044-4570G= c.67610C= (p.Ala22537=) c.41504C= (p.Ala13835=) c.41363C= (p.Ala13788=) c.67406C= (p.Ala22469=) c.62804C= (p.Ala20935=) c.62801C= (p.Ala20934=) c.59843C= (p.Ala19948=) c.41459C= (p.Ala13820=) c.62954C= (p.Ala20985=) c.62951C= (p.Ala20984=) c.62384C= (p.Ala20795=) c.59726C= (p.Ala19909=) c.59645C= (p.Ala19882=) c.41408C= (p.Ala13803=) c.31262C= (p.Ala10421=) | |
| 2 | g.178578002G>T | CA349672189 | TTN,TTN-AS1 | c.60809C>A (p.Ala20270Glu) c.41894C>A (p.Ala13965Glu) c.41693C>A (p.Ala13898Glu) c.41318C>A (p.Ala13773Glu) c.68513C>A (p.Ala22838Glu) c.63590C>A (p.Ala21197Glu) n.596+6553G>T n.2044-4570G>T c.67610C>A (p.Ala22537Glu) c.41504C>A (p.Ala13835Glu) c.41363C>A (p.Ala13788Glu) c.67406C>A (p.Ala22469Glu) c.62804C>A (p.Ala20935Glu) c.62801C>A (p.Ala20934Glu) c.59843C>A (p.Ala19948Glu) c.41459C>A (p.Ala13820Glu) c.62954C>A (p.Ala20985Glu) c.62951C>A (p.Ala20984Glu) c.62384C>A (p.Ala20795Glu) c.59726C>A (p.Ala19909Glu) c.59645C>A (p.Ala19882Glu) c.41408C>A (p.Ala13803Glu) c.31262C>A (p.Ala10421Glu) | |
| 2 | g.178578003C>A | CA349672192 | TTN,TTN-AS1 | c.60808G>T (p.Ala20270Ser) c.41893G>T (p.Ala13965Ser) c.41692G>T (p.Ala13898Ser) c.41317G>T (p.Ala13773Ser) c.68512G>T (p.Ala22838Ser) c.63589G>T (p.Ala21197Ser) n.596+6554C>A n.2044-4569C>A c.67609G>T (p.Ala22537Ser) c.41503G>T (p.Ala13835Ser) c.41362G>T (p.Ala13788Ser) c.67405G>T (p.Ala22469Ser) c.62803G>T (p.Ala20935Ser) c.62800G>T (p.Ala20934Ser) c.59842G>T (p.Ala19948Ser) c.41458G>T (p.Ala13820Ser) c.62953G>T (p.Ala20985Ser) c.62950G>T (p.Ala20984Ser) c.62383G>T (p.Ala20795Ser) c.59725G>T (p.Ala19909Ser) c.59644G>T (p.Ala19882Ser) c.41407G>T (p.Ala13803Ser) c.31261G>T (p.Ala10421Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178578003C= | CA1310534304 | TTN,TTN-AS1 | c.60808G= (p.Ala20270=) c.41893G= (p.Ala13965=) c.41692G= (p.Ala13898=) c.41317G= (p.Ala13773=) c.68512G= (p.Ala22838=) c.63589G= (p.Ala21197=) n.596+6554C= n.2044-4569C= c.67609G= (p.Ala22537=) c.41503G= (p.Ala13835=) c.41362G= (p.Ala13788=) c.67405G= (p.Ala22469=) c.62803G= (p.Ala20935=) c.62800G= (p.Ala20934=) c.59842G= (p.Ala19948=) c.41458G= (p.Ala13820=) c.62953G= (p.Ala20985=) c.62950G= (p.Ala20984=) c.62383G= (p.Ala20795=) c.59725G= (p.Ala19909=) c.59644G= (p.Ala19882=) c.41407G= (p.Ala13803=) c.31261G= (p.Ala10421=) | |
| 2 | g.178578003C>G | CA349672191 | TTN,TTN-AS1 | c.60808G>C (p.Ala20270Pro) c.41893G>C (p.Ala13965Pro) c.41692G>C (p.Ala13898Pro) c.41317G>C (p.Ala13773Pro) c.68512G>C (p.Ala22838Pro) c.63589G>C (p.Ala21197Pro) n.596+6554C>G n.2044-4569C>G c.67609G>C (p.Ala22537Pro) c.41503G>C (p.Ala13835Pro) c.41362G>C (p.Ala13788Pro) c.67405G>C (p.Ala22469Pro) c.62803G>C (p.Ala20935Pro) c.62800G>C (p.Ala20934Pro) c.59842G>C (p.Ala19948Pro) c.41458G>C (p.Ala13820Pro) c.62953G>C (p.Ala20985Pro) c.62950G>C (p.Ala20984Pro) c.62383G>C (p.Ala20795Pro) c.59725G>C (p.Ala19909Pro) c.59644G>C (p.Ala19882Pro) c.41407G>C (p.Ala13803Pro) c.31261G>C (p.Ala10421Pro) | dbSNP |
| 2 | g.178578003C>T | CA349672190 | TTN,TTN-AS1 | c.60808G>A (p.Ala20270Thr) c.41893G>A (p.Ala13965Thr) c.41692G>A (p.Ala13898Thr) c.41317G>A (p.Ala13773Thr) c.68512G>A (p.Ala22838Thr) c.63589G>A (p.Ala21197Thr) n.596+6554C>T n.2044-4569C>T c.67609G>A (p.Ala22537Thr) c.41503G>A (p.Ala13835Thr) c.41362G>A (p.Ala13788Thr) c.67405G>A (p.Ala22469Thr) c.62803G>A (p.Ala20935Thr) c.62800G>A (p.Ala20934Thr) c.59842G>A (p.Ala19948Thr) c.41458G>A (p.Ala13820Thr) c.62953G>A (p.Ala20985Thr) c.62950G>A (p.Ala20984Thr) c.62383G>A (p.Ala20795Thr) c.59725G>A (p.Ala19909Thr) c.59644G>A (p.Ala19882Thr) c.41407G>A (p.Ala13803Thr) c.31261G>A (p.Ala10421Thr) | |
| 2 | g.178578004C>A | CA430259705 | TTN,TTN-AS1 | c.60807G>T (p.Val20269=) c.41892G>T (p.Val13964=) c.41691G>T (p.Val13897=) c.41316G>T (p.Val13772=) c.68511G>T (p.Val22837=) c.63588G>T (p.Val21196=) n.596+6555C>A n.2044-4568C>A c.67608G>T (p.Val22536=) c.41502G>T (p.Val13834=) c.41361G>T (p.Val13787=) c.67404G>T (p.Val22468=) c.62802G>T (p.Val20934=) c.62799G>T (p.Val20933=) c.59841G>T (p.Val19947=) c.41457G>T (p.Val13819=) c.62952G>T (p.Val20984=) c.62949G>T (p.Val20983=) c.62382G>T (p.Val20794=) c.59724G>T (p.Val19908=) c.59643G>T (p.Val19881=) c.41406G>T (p.Val13802=) c.31260G>T (p.Val10420=) | |
| 2 | g.178578004C>G | CA430259706 | TTN,TTN-AS1 | c.60807G>C (p.Val20269=) c.41892G>C (p.Val13964=) c.41691G>C (p.Val13897=) c.41316G>C (p.Val13772=) c.68511G>C (p.Val22837=) c.63588G>C (p.Val21196=) n.596+6555C>G n.2044-4568C>G c.67608G>C (p.Val22536=) c.41502G>C (p.Val13834=) c.41361G>C (p.Val13787=) c.67404G>C (p.Val22468=) c.62802G>C (p.Val20934=) c.62799G>C (p.Val20933=) c.59841G>C (p.Val19947=) c.41457G>C (p.Val13819=) c.62952G>C (p.Val20984=) c.62949G>C (p.Val20983=) c.62382G>C (p.Val20794=) c.59724G>C (p.Val19908=) c.59643G>C (p.Val19881=) c.41406G>C (p.Val13802=) c.31260G>C (p.Val10420=) | |
| 2 | g.178578004C>T | CA430259707 | TTN,TTN-AS1 | c.60807G>A (p.Val20269=) c.41892G>A (p.Val13964=) c.41691G>A (p.Val13897=) c.41316G>A (p.Val13772=) c.68511G>A (p.Val22837=) c.63588G>A (p.Val21196=) n.596+6555C>T n.2044-4568C>T c.67608G>A (p.Val22536=) c.41502G>A (p.Val13834=) c.41361G>A (p.Val13787=) c.67404G>A (p.Val22468=) c.62802G>A (p.Val20934=) c.62799G>A (p.Val20933=) c.59841G>A (p.Val19947=) c.41457G>A (p.Val13819=) c.62952G>A (p.Val20984=) c.62949G>A (p.Val20983=) c.62382G>A (p.Val20794=) c.59724G>A (p.Val19908=) c.59643G>A (p.Val19881=) c.41406G>A (p.Val13802=) c.31260G>A (p.Val10420=) | |
| 2 | g.178578005A= | CA1310534306 | TTN,TTN-AS1 | c.60806T= (p.Val20269=) c.41891T= (p.Val13964=) c.41690T= (p.Val13897=) c.41315T= (p.Val13772=) c.68510T= (p.Val22837=) c.63587T= (p.Val21196=) n.596+6556A= n.2044-4567A= c.67607T= (p.Val22536=) c.41501T= (p.Val13834=) c.41360T= (p.Val13787=) c.67403T= (p.Val22468=) c.62801T= (p.Val20934=) c.62798T= (p.Val20933=) c.59840T= (p.Val19947=) c.41456T= (p.Val13819=) c.62951T= (p.Val20984=) c.62948T= (p.Val20983=) c.62381T= (p.Val20794=) c.59723T= (p.Val19908=) c.59642T= (p.Val19881=) c.41405T= (p.Val13802=) c.31259T= (p.Val10420=) | |
| 2 | g.178578005A>C | CA349672195 | TTN,TTN-AS1 | c.60806T>G (p.Val20269Gly) c.41891T>G (p.Val13964Gly) c.41690T>G (p.Val13897Gly) c.41315T>G (p.Val13772Gly) c.68510T>G (p.Val22837Gly) c.63587T>G (p.Val21196Gly) n.596+6556A>C n.2044-4567A>C c.67607T>G (p.Val22536Gly) c.41501T>G (p.Val13834Gly) c.41360T>G (p.Val13787Gly) c.67403T>G (p.Val22468Gly) c.62801T>G (p.Val20934Gly) c.62798T>G (p.Val20933Gly) c.59840T>G (p.Val19947Gly) c.41456T>G (p.Val13819Gly) c.62951T>G (p.Val20984Gly) c.62948T>G (p.Val20983Gly) c.62381T>G (p.Val20794Gly) c.59723T>G (p.Val19908Gly) c.59642T>G (p.Val19881Gly) c.41405T>G (p.Val13802Gly) c.31259T>G (p.Val10420Gly) | |
| 2 | g.178578005A>G | CA349672193 | TTN,TTN-AS1 | c.60806T>C (p.Val20269Ala) c.41891T>C (p.Val13964Ala) c.41690T>C (p.Val13897Ala) c.41315T>C (p.Val13772Ala) c.68510T>C (p.Val22837Ala) c.63587T>C (p.Val21196Ala) n.596+6556A>G n.2044-4567A>G c.67607T>C (p.Val22536Ala) c.41501T>C (p.Val13834Ala) c.41360T>C (p.Val13787Ala) c.67403T>C (p.Val22468Ala) c.62801T>C (p.Val20934Ala) c.62798T>C (p.Val20933Ala) c.59840T>C (p.Val19947Ala) c.41456T>C (p.Val13819Ala) c.62951T>C (p.Val20984Ala) c.62948T>C (p.Val20983Ala) c.62381T>C (p.Val20794Ala) c.59723T>C (p.Val19908Ala) c.59642T>C (p.Val19881Ala) c.41405T>C (p.Val13802Ala) c.31259T>C (p.Val10420Ala) | dbSNP |
| 2 | g.178578005A>T | CA349672194 | TTN,TTN-AS1 | c.60806T>A (p.Val20269Glu) c.41891T>A (p.Val13964Glu) c.41690T>A (p.Val13897Glu) c.41315T>A (p.Val13772Glu) c.68510T>A (p.Val22837Glu) c.63587T>A (p.Val21196Glu) n.596+6556A>T n.2044-4567A>T c.67607T>A (p.Val22536Glu) c.41501T>A (p.Val13834Glu) c.41360T>A (p.Val13787Glu) c.67403T>A (p.Val22468Glu) c.62801T>A (p.Val20934Glu) c.62798T>A (p.Val20933Glu) c.59840T>A (p.Val19947Glu) c.41456T>A (p.Val13819Glu) c.62951T>A (p.Val20984Glu) c.62948T>A (p.Val20983Glu) c.62381T>A (p.Val20794Glu) c.59723T>A (p.Val19908Glu) c.59642T>A (p.Val19881Glu) c.41405T>A (p.Val13802Glu) c.31259T>A (p.Val10420Glu) | |
| 2 | g.178578006C>A | CA349672196 | TTN,TTN-AS1 | c.60805G>T (p.Val20269Leu) c.41890G>T (p.Val13964Leu) c.41689G>T (p.Val13897Leu) c.41314G>T (p.Val13772Leu) c.68509G>T (p.Val22837Leu) c.63586G>T (p.Val21196Leu) n.596+6557C>A n.2044-4566C>A c.67606G>T (p.Val22536Leu) c.41500G>T (p.Val13834Leu) c.41359G>T (p.Val13787Leu) c.67402G>T (p.Val22468Leu) c.62800G>T (p.Val20934Leu) c.62797G>T (p.Val20933Leu) c.59839G>T (p.Val19947Leu) c.41455G>T (p.Val13819Leu) c.62950G>T (p.Val20984Leu) c.62947G>T (p.Val20983Leu) c.62380G>T (p.Val20794Leu) c.59722G>T (p.Val19908Leu) c.59641G>T (p.Val19881Leu) c.41404G>T (p.Val13802Leu) c.31258G>T (p.Val10420Leu) | gnomAD v4 |
| 2 | g.178578006C= | CA1310534308 | TTN,TTN-AS1 | c.60805G= (p.Val20269=) c.41890G= (p.Val13964=) c.41689G= (p.Val13897=) c.41314G= (p.Val13772=) c.68509G= (p.Val22837=) c.63586G= (p.Val21196=) n.596+6557C= n.2044-4566C= c.67606G= (p.Val22536=) c.41500G= (p.Val13834=) c.41359G= (p.Val13787=) c.67402G= (p.Val22468=) c.62800G= (p.Val20934=) c.62797G= (p.Val20933=) c.59839G= (p.Val19947=) c.41455G= (p.Val13819=) c.62950G= (p.Val20984=) c.62947G= (p.Val20983=) c.62380G= (p.Val20794=) c.59722G= (p.Val19908=) c.59641G= (p.Val19881=) c.41404G= (p.Val13802=) c.31258G= (p.Val10420=) | |
| 2 | g.178578006C>G | CA349672198 | TTN,TTN-AS1 | c.60805G>C (p.Val20269Leu) c.41890G>C (p.Val13964Leu) c.41689G>C (p.Val13897Leu) c.41314G>C (p.Val13772Leu) c.68509G>C (p.Val22837Leu) c.63586G>C (p.Val21196Leu) n.596+6557C>G n.2044-4566C>G c.67606G>C (p.Val22536Leu) c.41500G>C (p.Val13834Leu) c.41359G>C (p.Val13787Leu) c.67402G>C (p.Val22468Leu) c.62800G>C (p.Val20934Leu) c.62797G>C (p.Val20933Leu) c.59839G>C (p.Val19947Leu) c.41455G>C (p.Val13819Leu) c.62950G>C (p.Val20984Leu) c.62947G>C (p.Val20983Leu) c.62380G>C (p.Val20794Leu) c.59722G>C (p.Val19908Leu) c.59641G>C (p.Val19881Leu) c.41404G>C (p.Val13802Leu) c.31258G>C (p.Val10420Leu) | |
| 2 | g.178578006C>T | CA349672200 | TTN,TTN-AS1 | c.60805G>A (p.Val20269Met) c.41890G>A (p.Val13964Met) c.41689G>A (p.Val13897Met) c.41314G>A (p.Val13772Met) c.68509G>A (p.Val22837Met) c.63586G>A (p.Val21196Met) n.596+6557C>T n.2044-4566C>T c.67606G>A (p.Val22536Met) c.41500G>A (p.Val13834Met) c.41359G>A (p.Val13787Met) c.67402G>A (p.Val22468Met) c.62800G>A (p.Val20934Met) c.62797G>A (p.Val20933Met) c.59839G>A (p.Val19947Met) c.41455G>A (p.Val13819Met) c.62950G>A (p.Val20984Met) c.62947G>A (p.Val20983Met) c.62380G>A (p.Val20794Met) c.59722G>A (p.Val19908Met) c.59641G>A (p.Val19881Met) c.41404G>A (p.Val13802Met) c.31258G>A (p.Val10420Met) | |
| 2 | g.178578007A>C | CA430259710 | TTN,TTN-AS1 | c.60804T>G (p.Val20268=) c.41889T>G (p.Val13963=) c.41688T>G (p.Val13896=) c.41313T>G (p.Val13771=) c.68508T>G (p.Val22836=) c.63585T>G (p.Val21195=) n.596+6558A>C n.2044-4565A>C c.67605T>G (p.Val22535=) c.41499T>G (p.Val13833=) c.41358T>G (p.Val13786=) c.67401T>G (p.Val22467=) c.62799T>G (p.Val20933=) c.62796T>G (p.Val20932=) c.59838T>G (p.Val19946=) c.41454T>G (p.Val13818=) c.62949T>G (p.Val20983=) c.62946T>G (p.Val20982=) c.62379T>G (p.Val20793=) c.59721T>G (p.Val19907=) c.59640T>G (p.Val19880=) c.41403T>G (p.Val13801=) c.31257T>G (p.Val10419=) | |
| 2 | g.178578007A>G | CA430259711 | TTN,TTN-AS1 | c.60804T>C (p.Val20268=) c.41889T>C (p.Val13963=) c.41688T>C (p.Val13896=) c.41313T>C (p.Val13771=) c.68508T>C (p.Val22836=) c.63585T>C (p.Val21195=) n.596+6558A>G n.2044-4565A>G c.67605T>C (p.Val22535=) c.41499T>C (p.Val13833=) c.41358T>C (p.Val13786=) c.67401T>C (p.Val22467=) c.62799T>C (p.Val20933=) c.62796T>C (p.Val20932=) c.59838T>C (p.Val19946=) c.41454T>C (p.Val13818=) c.62949T>C (p.Val20983=) c.62946T>C (p.Val20982=) c.62379T>C (p.Val20793=) c.59721T>C (p.Val19907=) c.59640T>C (p.Val19880=) c.41403T>C (p.Val13801=) c.31257T>C (p.Val10419=) | |
| 2 | g.178578007A>T | CA430259712 | TTN,TTN-AS1 | c.60804T>A (p.Val20268=) c.41889T>A (p.Val13963=) c.41688T>A (p.Val13896=) c.41313T>A (p.Val13771=) c.68508T>A (p.Val22836=) c.63585T>A (p.Val21195=) n.596+6558A>T n.2044-4565A>T c.67605T>A (p.Val22535=) c.41499T>A (p.Val13833=) c.41358T>A (p.Val13786=) c.67401T>A (p.Val22467=) c.62799T>A (p.Val20933=) c.62796T>A (p.Val20932=) c.59838T>A (p.Val19946=) c.41454T>A (p.Val13818=) c.62949T>A (p.Val20983=) c.62946T>A (p.Val20982=) c.62379T>A (p.Val20793=) c.59721T>A (p.Val19907=) c.59640T>A (p.Val19880=) c.41403T>A (p.Val13801=) c.31257T>A (p.Val10419=) | |
| 2 | g.178578008dup | CA16617359 | TTN,TTN-AS1 | c.60804dup (p.Val20269CysfsTer7) c.41889dup (p.Val13964CysfsTer7) c.41688dup (p.Val13897CysfsTer7) c.41313dup (p.Val13772CysfsTer7) c.68508dup (p.Val22837CysfsTer7) c.63585dup (p.Val21196CysfsTer7) n.596+6559dup n.2044-4564dup c.67605dup (p.Val22536CysfsTer7) c.41499dup (p.Val13834CysfsTer7) c.41358dup (p.Val13787CysfsTer7) c.67401dup (p.Val22468CysfsTer7) c.62799dup (p.Val20934CysfsTer7) c.62796dup (p.Val20933CysfsTer7) c.59838dup (p.Val19947CysfsTer7) c.41454dup (p.Val13819CysfsTer7) c.62949dup (p.Val20984CysfsTer7) c.62946dup (p.Val20983CysfsTer7) c.62379dup (p.Val20794CysfsTer7) c.59721dup (p.Val19908CysfsTer7) c.59640dup (p.Val19881CysfsTer7) c.41403dup (p.Val13802CysfsTer7) c.31257dup (p.Val10420CysfsTer7) | ClinVar dbSNP |
| 2 | g.178578008A= | CA1310534311 | TTN,TTN-AS1 | c.60803T= (p.Val20268=) c.41888T= (p.Val13963=) c.41687T= (p.Val13896=) c.41312T= (p.Val13771=) c.68507T= (p.Val22836=) c.63584T= (p.Val21195=) n.596+6559A= n.2044-4564A= c.67604T= (p.Val22535=) c.41498T= (p.Val13833=) c.41357T= (p.Val13786=) c.67400T= (p.Val22467=) c.62798T= (p.Val20933=) c.62795T= (p.Val20932=) c.59837T= (p.Val19946=) c.41453T= (p.Val13818=) c.62948T= (p.Val20983=) c.62945T= (p.Val20982=) c.62378T= (p.Val20793=) c.59720T= (p.Val19907=) c.59639T= (p.Val19880=) c.41402T= (p.Val13801=) c.31256T= (p.Val10419=) | |
| 2 | g.178578008A>C | CA349672206 | TTN,TTN-AS1 | c.60803T>G (p.Val20268Gly) c.41888T>G (p.Val13963Gly) c.41687T>G (p.Val13896Gly) c.41312T>G (p.Val13771Gly) c.68507T>G (p.Val22836Gly) c.63584T>G (p.Val21195Gly) n.596+6559A>C n.2044-4564A>C c.67604T>G (p.Val22535Gly) c.41498T>G (p.Val13833Gly) c.41357T>G (p.Val13786Gly) c.67400T>G (p.Val22467Gly) c.62798T>G (p.Val20933Gly) c.62795T>G (p.Val20932Gly) c.59837T>G (p.Val19946Gly) c.41453T>G (p.Val13818Gly) c.62948T>G (p.Val20983Gly) c.62945T>G (p.Val20982Gly) c.62378T>G (p.Val20793Gly) c.59720T>G (p.Val19907Gly) c.59639T>G (p.Val19880Gly) c.41402T>G (p.Val13801Gly) c.31256T>G (p.Val10419Gly) | |
| 2 | g.178578008A>G | CA1991093 | TTN,TTN-AS1 | c.60803T>C (p.Val20268Ala) c.41888T>C (p.Val13963Ala) c.41687T>C (p.Val13896Ala) c.41312T>C (p.Val13771Ala) c.68507T>C (p.Val22836Ala) c.63584T>C (p.Val21195Ala) n.596+6559A>G n.2044-4564A>G c.67604T>C (p.Val22535Ala) c.41498T>C (p.Val13833Ala) c.41357T>C (p.Val13786Ala) c.67400T>C (p.Val22467Ala) c.62798T>C (p.Val20933Ala) c.62795T>C (p.Val20932Ala) c.59837T>C (p.Val19946Ala) c.41453T>C (p.Val13818Ala) c.62948T>C (p.Val20983Ala) c.62945T>C (p.Val20982Ala) c.62378T>C (p.Val20793Ala) c.59720T>C (p.Val19907Ala) c.59639T>C (p.Val19880Ala) c.41402T>C (p.Val13801Ala) c.31256T>C (p.Val10419Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178578008A>T | CA349672202 | TTN,TTN-AS1 | c.60803T>A (p.Val20268Asp) c.41888T>A (p.Val13963Asp) c.41687T>A (p.Val13896Asp) c.41312T>A (p.Val13771Asp) c.68507T>A (p.Val22836Asp) c.63584T>A (p.Val21195Asp) n.596+6559A>T n.2044-4564A>T c.67604T>A (p.Val22535Asp) c.41498T>A (p.Val13833Asp) c.41357T>A (p.Val13786Asp) c.67400T>A (p.Val22467Asp) c.62798T>A (p.Val20933Asp) c.62795T>A (p.Val20932Asp) c.59837T>A (p.Val19946Asp) c.41453T>A (p.Val13818Asp) c.62948T>A (p.Val20983Asp) c.62945T>A (p.Val20982Asp) c.62378T>A (p.Val20793Asp) c.59720T>A (p.Val19907Asp) c.59639T>A (p.Val19880Asp) c.41402T>A (p.Val13801Asp) c.31256T>A (p.Val10419Asp) | |
| 2 | g.178578009C>A | CA349672208 | TTN,TTN-AS1 | c.60802G>T (p.Val20268Phe) c.41887G>T (p.Val13963Phe) c.41686G>T (p.Val13896Phe) c.41311G>T (p.Val13771Phe) c.68506G>T (p.Val22836Phe) c.63583G>T (p.Val21195Phe) n.596+6560C>A n.2044-4563C>A c.67603G>T (p.Val22535Phe) c.41497G>T (p.Val13833Phe) c.41356G>T (p.Val13786Phe) c.67399G>T (p.Val22467Phe) c.62797G>T (p.Val20933Phe) c.62794G>T (p.Val20932Phe) c.59836G>T (p.Val19946Phe) c.41452G>T (p.Val13818Phe) c.62947G>T (p.Val20983Phe) c.62944G>T (p.Val20982Phe) c.62377G>T (p.Val20793Phe) c.59719G>T (p.Val19907Phe) c.59638G>T (p.Val19880Phe) c.41401G>T (p.Val13801Phe) c.31255G>T (p.Val10419Phe) | dbSNP gnomAD v2 gnomAD v4 |