Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar | ||
6 | g.7582934_7587655del | CA2695202641 | |||
6 | g.7583301_7585800del | CA006686 | DSP | c.4710_7209del (p.Gly1571GlufsTer?) c.6039_8538del (p.Gly2014GlufsTer?) c.4242_6741del (p.Gly1415GlufsTer?) | |
6 | g.7585725_7585737dup | CA2578524532 | DSP | c.7134_7146dup (p.Arg2383GlyfsTer30) c.8463_8475dup (p.Arg2826GlyfsTer30) c.6666_6678dup (p.Arg2227GlyfsTer30) | |
6 | g.7585731_7585749del | CA2573140825 | DSP | c.7140_7158del (p.Gly2381AlafsTer?) c.8469_8487del (p.Gly2824AlafsTer?) c.6672_6690del (p.Gly2225AlafsTer?) | ClinVar dbSNP gnomAD v4 |
6 | g.7585725_7585738delinsGGCTCCGGGGTCCC | CA1608615430 | DSP | c.7134_7147delinsGGCTCCGGGGTCCC (p.Ser2378=) c.8463_8476delinsGGCTCCGGGGTCCC (p.Ser2821=) c.6666_6679delinsGGCTCCGGGGTCCC (p.Ser2222=) | |
6 | g.7585726G>A | CA362695203 | DSP | c.7135G>A (p.Ala2379Thr) c.8464G>A (p.Ala2822Thr) c.6667G>A (p.Ala2223Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585726G>C | CA362695204 | DSP | c.7135G>C (p.Ala2379Pro) c.8464G>C (p.Ala2822Pro) c.6667G>C (p.Ala2223Pro) | ClinVar |
6 | g.7585726G= | CA1608615433 | DSP | c.7135G= (p.Ala2379=) c.8464G= (p.Ala2822=) c.6667G= (p.Ala2223=) | |
6 | g.7585726G>T | CA362695205 | DSP | c.7135G>T (p.Ala2379Ser) c.8464G>T (p.Ala2822Ser) c.6667G>T (p.Ala2223Ser) | |
6 | g.7585733_7585745del | CA1608615432 | DSP | c.7142_7154del (p.Gly2381AlafsTer?) c.8471_8483del (p.Gly2824AlafsTer?) c.6674_6686del (p.Gly2225AlafsTer?) | ClinVar dbSNP gnomAD v4 |
6 | g.7585727C>A | CA362695206 | DSP | c.7136C>A (p.Ala2379Asp) c.8465C>A (p.Ala2822Asp) c.6668C>A (p.Ala2223Asp) | |
6 | g.7585727C>G | CA362695207 | DSP | c.7136C>G (p.Ala2379Gly) c.8465C>G (p.Ala2822Gly) c.6668C>G (p.Ala2223Gly) | |
6 | g.7585727C>T | CA362695208 | DSP | c.7136C>T (p.Ala2379Val) c.8465C>T (p.Ala2822Val) c.6668C>T (p.Ala2223Val) | |
6 | g.7585728T>A | CA448717218 | DSP | c.7137T>A (p.Ala2379=) c.8466T>A (p.Ala2822=) c.6669T>A (p.Ala2223=) | |
6 | g.7585728T>C | CA133978030 | DSP | c.7137T>C (p.Ala2379=) c.8466T>C (p.Ala2822=) c.6669T>C (p.Ala2223=) | ClinVar dbSNP |
6 | g.7585728T>G | CA448717219 | DSP | c.7137T>G (p.Ala2379=) c.8466T>G (p.Ala2822=) c.6669T>G (p.Ala2223=) | |
6 | g.7585728T= | CA1608615439 | DSP | c.7137T= (p.Ala2379=) c.8466T= (p.Ala2822=) c.6669T= (p.Ala2223=) | |
6 | g.7585729C>A | CA362695209 | DSP | c.7138C>A (p.Pro2380Thr) c.8467C>A (p.Pro2823Thr) c.6670C>A (p.Pro2224Thr) | |
6 | g.7585729C= | CA1608615443 | DSP | c.7138C= (p.Pro2380=) c.8467C= (p.Pro2823=) c.6670C= (p.Pro2224=) | |
6 | g.7585729C>G | CA007575 | DSP | c.7138C>G (p.Pro2380Ala) c.8467C>G (p.Pro2823Ala) c.6670C>G (p.Pro2224Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585729C>T | CA362695210 | DSP | c.7138C>T (p.Pro2380Ser) c.8467C>T (p.Pro2823Ser) c.6670C>T (p.Pro2224Ser) | dbSNP |
6 | g.7585729_7585753delinsCCGGGGTCCCGCTCCGGCTCCCGCT | CA1608615447 | DSP | c.7138_7162delinsCCGGGGTCCCGCTCCGGCTCCCGCT (p.Pro2380=) c.8467_8491delinsCCGGGGTCCCGCTCCGGCTCCCGCT (p.Pro2823=) c.6670_6694delinsCCGGGGTCCCGCTCCGGCTCCCGCT (p.Pro2224=) | |
6 | g.7585730C>A | CA362695211 | DSP | c.7139C>A (p.Pro2380Gln) c.8468C>A (p.Pro2823Gln) c.6671C>A (p.Pro2224Gln) | COSMIC |
6 | g.7585730C= | CA1608615462 | DSP | c.7139C= (p.Pro2380=) c.8468C= (p.Pro2823=) c.6671C= (p.Pro2224=) | |
6 | g.7585730C>G | CA362695212 | DSP | c.7139C>G (p.Pro2380Arg) c.8468C>G (p.Pro2823Arg) c.6671C>G (p.Pro2224Arg) | |
6 | g.7585730C>T | CA362695213 | DSP | c.7139C>T (p.Pro2380Leu) c.8468C>T (p.Pro2823Leu) c.6671C>T (p.Pro2224Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585731_7585742dup | CA565358229 | DSP | c.7140_7151dup (p.Ser2384_Gly2385insGlySerArgSer) c.8469_8480dup (p.Ser2827_Gly2828insGlySerArgSer) c.6672_6683dup (p.Ser2228_Gly2229insGlySerArgSer) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585734_7585757del | CA565358228 | DSP | c.7143_7166del (p.Ser2382_Gly2389del) c.8472_8495del (p.Ser2825_Gly2832del) c.6675_6698del (p.Ser2226_Gly2233del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585731G>A | CA448717221 | DSP | c.7140G>A (p.Pro2380=) c.8469G>A (p.Pro2823=) c.6672G>A (p.Pro2224=) | ClinVar dbSNP |
6 | g.7585731G>C | CA448717222 | DSP | c.7140G>C (p.Pro2380=) c.8469G>C (p.Pro2823=) c.6672G>C (p.Pro2224=) | |
6 | g.7585731G= | CA1608615481 | DSP | c.7140G= (p.Pro2380=) c.8469G= (p.Pro2823=) c.6672G= (p.Pro2224=) | |
6 | g.7585731G>T | CA448717223 | DSP | c.7140G>T (p.Pro2380=) c.8469G>T (p.Pro2823=) c.6672G>T (p.Pro2224=) | gnomAD v4 |
6 | g.7585731_7585732delinsAA | CA645552064 | DSP | c.7140_7141delinsAA (p.Gly2381Arg) c.8469_8470delinsAA (p.Gly2824Arg) c.6672_6673delinsAA (p.Gly2225Arg) | COSMIC |
6 | g.7585731_7585743delinsGGGGTCCCGCTCC | CA1608615477 | DSP | c.7140_7152delinsGGGGTCCCGCTCC (p.Pro2380=) c.8469_8481delinsGGGGTCCCGCTCC (p.Pro2823=) c.6672_6684delinsGGGGTCCCGCTCC (p.Pro2224=) | |
6 | g.7585732G>A | CA362695215 | DSP | c.7141G>A (p.Gly2381Arg) c.8470G>A (p.Gly2824Arg) c.6673G>A (p.Gly2225Arg) | |
6 | g.7585732G>C | CA362695214 | DSP | c.7141G>C (p.Gly2381Arg) c.8470G>C (p.Gly2824Arg) c.6673G>C (p.Gly2225Arg) | |
6 | g.7585732G>T | CA362695216 | DSP | c.7141G>T (p.Gly2381Trp) c.8470G>T (p.Gly2824Trp) c.6673G>T (p.Gly2225Trp) | |
6 | g.7585732_7585738delinsGGGTCCC | CA1608615490 | DSP | c.7141_7147delinsGGGTCCC (p.Gly2381=) c.8470_8476delinsGGGTCCC (p.Gly2824=) c.6673_6679delinsGGGTCCC (p.Gly2225=) | |
6 | g.7585734_7585745del | CA007583 | DSP | c.7143_7154del (p.Ser2382_Gly2385del) c.8472_8483del (p.Ser2825_Gly2828del) c.6675_6686del (p.Ser2226_Gly2229del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585733G>A | CA362695217 | DSP | c.7142G>A (p.Gly2381Glu) c.8471G>A (p.Gly2824Glu) c.6674G>A (p.Gly2225Glu) | |
6 | g.7585733G>C | CA362695218 | DSP | c.7142G>C (p.Gly2381Ala) c.8471G>C (p.Gly2824Ala) c.6674G>C (p.Gly2225Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585733G= | CA1608615499 | DSP | c.7142G= (p.Gly2381=) c.8471G= (p.Gly2824=) c.6674G= (p.Gly2225=) | |
6 | g.7585733G>T | CA362695219 | DSP | c.7142G>T (p.Gly2381Val) c.8471G>T (p.Gly2824Val) c.6674G>T (p.Gly2225Val) | |
6 | g.7585733_7585735delinsGGT | CA1608615495 | DSP | c.7142_7144delinsGGT (p.Gly2381=) c.8471_8473delinsGGT (p.Gly2824=) c.6674_6676delinsGGT (p.Gly2225=) | |
6 | g.7585734_7585739del | CA1085707195 | DSP | c.7143_7148del (p.Ser2382_Arg2383del) c.8472_8477del (p.Ser2825_Arg2826del) c.6675_6680del (p.Ser2226_Arg2227del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.7585733_7585734insCTCCC | CA3628103 | DSP | c.7142_7143insCTCCC (p.Ser2384ProfsTer?) c.8471_8472insCTCCC (p.Ser2827ProfsTer?) c.6674_6675insCTCCC (p.Ser2228ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585734G>A | CA448717225 | DSP | c.7143G>A (p.Gly2381=) c.8472G>A (p.Gly2824=) c.6675G>A (p.Gly2225=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7585734G>C | CA007601 | DSP | c.7143G>C (p.Gly2381=) c.8472G>C (p.Gly2824=) c.6675G>C (p.Gly2225=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585734G= | CA180735 | DSP | c.7143G= (p.Gly2381=) c.8472G= (p.Gly2824=) c.6675G= (p.Gly2225=) | |
6 | g.7585734G>T | CA448717226 | DSP | c.7143G>T (p.Gly2381=) c.8472G>T (p.Gly2824=) c.6675G>T (p.Gly2225=) | dbSNP |
6 | g.7585734_7585735del | CA3628102 | DSP | c.7143_7144del (p.Ser2382ProfsTer26) c.8472_8473del (p.Ser2825ProfsTer26) c.6675_6676del (p.Ser2226ProfsTer26) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7585734_7585746delinsGTCCCGCTCCGGC | CA1608615508 | DSP | c.7143_7155delinsGTCCCGCTCCGGC (p.Gly2381=) c.8472_8484delinsGTCCCGCTCCGGC (p.Gly2824=) c.6675_6687delinsGTCCCGCTCCGGC (p.Gly2225=) | |
6 | g.7585734_7585735insGT | CA133978062 | DSP | c.7143_7144insGT (p.Ser2382ValfsTer?) c.8472_8473insGT (p.Ser2825ValfsTer?) c.6675_6676insGT (p.Ser2226ValfsTer?) | |
6 | g.7585734_7585735insCTCCGGC | CA052414 | DSP | c.7143_7144insCTCCGGC (p.Ser2382LeufsTer29) c.8472_8473insCTCCGGC (p.Ser2825LeufsTer29) c.6675_6676insCTCCGGC (p.Ser2226LeufsTer29) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585734_7585735insCTCCGGCTCCCGCTCGGGC | CA565358230 | DSP | c.7143_7144insCTCCGGCTCCCGCTCGGGC (p.Ser2382LeufsTer33) c.8472_8473insCTCCGGCTCCCGCTCGGGC (p.Ser2825LeufsTer33) c.6675_6676insCTCCGGCTCCCGCTCGGGC (p.Ser2226LeufsTer33) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585735T>A | CA362695222 | DSP | c.7144T>A (p.Ser2382Thr) c.8473T>A (p.Ser2825Thr) c.6676T>A (p.Ser2226Thr) | dbSNP gnomAD v4 |
6 | g.7585735T>C | CA362695221 | DSP | c.7144T>C (p.Ser2382Pro) c.8473T>C (p.Ser2825Pro) c.6676T>C (p.Ser2226Pro) | |
6 | g.7585735T>G | CA362695220 | DSP | c.7144T>G (p.Ser2382Ala) c.8473T>G (p.Ser2825Ala) c.6676T>G (p.Ser2226Ala) | |
6 | g.7585735T= | CA1608615523 | DSP | c.7144T= (p.Ser2382=) c.8473T= (p.Ser2825=) c.6676T= (p.Ser2226=) | |
6 | g.7585743_7585754del | CA007617 | DSP | c.7152_7163del (p.Gly2385_Ser2388del) c.8481_8492del (p.Gly2828_Ser2831del) c.6684_6695del (p.Gly2229_Ser2232del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585736C>A | CA362695223 | DSP | c.7145C>A (p.Ser2382Tyr) c.8474C>A (p.Ser2825Tyr) c.6677C>A (p.Ser2226Tyr) | |
6 | g.7585736C= | CA1608615531 | DSP | c.7145C= (p.Ser2382=) c.8474C= (p.Ser2825=) c.6677C= (p.Ser2226=) | |
6 | g.7585736C>G | CA362695224 | DSP | c.7145C>G (p.Ser2382Cys) c.8474C>G (p.Ser2825Cys) c.6677C>G (p.Ser2226Cys) | dbSNP gnomAD v4 |
6 | g.7585736C>T | CA362695225 | DSP | c.7145C>T (p.Ser2382Phe) c.8474C>T (p.Ser2825Phe) c.6677C>T (p.Ser2226Phe) | |
6 | g.7585736_7585758delinsCCCGCTCCGGCTCCCGCTCGGGA | CA1608615532 | DSP | c.7145_7167delinsCCCGCTCCGGCTCCCGCTCGGGA (p.Ser2382=) c.8474_8496delinsCCCGCTCCGGCTCCCGCTCGGGA (p.Ser2825=) c.6677_6699delinsCCCGCTCCGGCTCCCGCTCGGGA (p.Ser2226=) | |
6 | g.7585737C>A | CA448717232 | DSP | c.7146C>A (p.Ser2382=) c.8475C>A (p.Ser2825=) c.6678C>A (p.Ser2226=) | |
6 | g.7585737C>G | CA448717233 | DSP | c.7146C>G (p.Ser2382=) c.8475C>G (p.Ser2825=) c.6678C>G (p.Ser2226=) | |
6 | g.7585737C>T | CA448717234 | DSP | c.7146C>T (p.Ser2382=) c.8475C>T (p.Ser2825=) c.6678C>T (p.Ser2226=) | gnomAD v4 |
6 | g.7585740_7585744del | CA2578524533 | DSP | c.7149_7153del (p.Ser2384LeufsTer23) c.8478_8482del (p.Ser2827LeufsTer23) c.6681_6685del (p.Ser2228LeufsTer23) | |
6 | g.7585737_7585758del | CA052448 | DSP | c.7146_7167del (p.Arg2383LeufsTer?) c.8475_8496del (p.Arg2826LeufsTer?) c.6678_6699del (p.Arg2227LeufsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7585737_7585761delinsCCGCTCCGGCTCCCGCTCGGGATCT | CA1608615534 | DSP | c.7146_7170delinsCCGCTCCGGCTCCCGCTCGGGATCT (p.Ser2382=) c.8475_8499delinsCCGCTCCGGCTCCCGCTCGGGATCT (p.Ser2825=) c.6678_6702delinsCCGCTCCGGCTCCCGCTCGGGATCT (p.Ser2226=) | |
6 | g.7585738C>A | CA362695226 | DSP | c.7147C>A (p.Arg2383Ser) c.8476C>A (p.Arg2826Ser) c.6679C>A (p.Arg2227Ser) | ClinVar dbSNP |
6 | g.7585738C= | CA1608615537 | DSP | c.7147C= (p.Arg2383=) c.8476C= (p.Arg2826=) c.6679C= (p.Arg2227=) | |
6 | g.7585738C>G | CA362695227 | DSP | c.7147C>G (p.Arg2383Gly) c.8476C>G (p.Arg2826Gly) c.6679C>G (p.Arg2227Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585738C>T | CA007610 | DSP | c.7147C>T (p.Arg2383Cys) c.8476C>T (p.Arg2826Cys) c.6679C>T (p.Arg2227Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585746_7585769del | CA133978081 | DSP | c.7155_7178del (p.Ser2386_Gly2393del) c.8484_8507del (p.Ser2829_Gly2836del) c.6687_6710del (p.Ser2230_Gly2237del) | ClinVar dbSNP |
6 | g.7585738_7585739insCGGGG | CA565358231 | DSP | c.7147_7148insCGGGG (p.Arg2383ProfsTer?) c.8476_8477insCGGGG (p.Arg2826ProfsTer?) c.6679_6680insCGGGG (p.Arg2227ProfsTer?) | gnomAD v2 |
6 | g.7585739G>A | CA052461 | DSP | c.7148G>A (p.Arg2383His) c.8477G>A (p.Arg2826His) c.6680G>A (p.Arg2227His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585739G>C | CA362695228 | DSP | c.7148G>C (p.Arg2383Pro) c.8477G>C (p.Arg2826Pro) c.6680G>C (p.Arg2227Pro) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585739G= | CA1608615542 | DSP | c.7148G= (p.Arg2383=) c.8477G= (p.Arg2826=) c.6680G= (p.Arg2227=) | |
6 | g.7585739G>T | CA362695229 | DSP | c.7148G>T (p.Arg2383Leu) c.8477G>T (p.Arg2826Leu) c.6680G>T (p.Arg2227Leu) | |
6 | g.7585740C>A | CA448531233 | DSP | c.7149C>A (p.Arg2383=) c.8478C>A (p.Arg2826=) c.6681C>A (p.Arg2227=) | |
6 | g.7585740C= | CA1608615558 | DSP | c.7149C= (p.Arg2383=) c.8478C= (p.Arg2826=) c.6681C= (p.Arg2227=) | |
6 | g.7585740C>G | CA448531235 | DSP | c.7149C>G (p.Arg2383=) c.8478C>G (p.Arg2826=) c.6681C>G (p.Arg2227=) | gnomAD v4 |
6 | g.7585740C>T | CA448531234 | DSP | c.7149C>T (p.Arg2383=) c.8478C>T (p.Arg2826=) c.6681C>T (p.Arg2227=) | ClinVar |
6 | g.7585741T>A | CA362695232 | DSP | c.7150T>A (p.Ser2384Thr) c.8479T>A (p.Ser2827Thr) c.6682T>A (p.Ser2228Thr) | |
6 | g.7585741T>C | CA362695231 | DSP | c.7150T>C (p.Ser2384Pro) c.8479T>C (p.Ser2827Pro) c.6682T>C (p.Ser2228Pro) | |
6 | g.7585741T>G | CA362695230 | DSP | c.7150T>G (p.Ser2384Ala) c.8479T>G (p.Ser2827Ala) c.6682T>G (p.Ser2228Ala) | |
6 | g.7585741_7585742insGATTGATAGAGATTTGTATCGAT | CA565105930 | DSP | c.7150_7151insGATTGATAGAGATTTGTATCGAT (p.Ser2384Ter) c.8479_8480insGATTGATAGAGATTTGTATCGAT (p.Ser2827Ter) c.6682_6683insGATTGATAGAGATTTGTATCGAT (p.Ser2228Ter) | dbSNP gnomAD v2 |
6 | g.7585742C>A | CA362695233 | DSP | c.7151C>A (p.Ser2384Tyr) c.8480C>A (p.Ser2827Tyr) c.6683C>A (p.Ser2228Tyr) | |
6 | g.7585742C= | CA1608615566 | DSP | c.7151C= (p.Ser2384=) c.8480C= (p.Ser2827=) c.6683C= (p.Ser2228=) | |
6 | g.7585742C>G | CA052462 | DSP | c.7151C>G (p.Ser2384Cys) c.8480C>G (p.Ser2827Cys) c.6683C>G (p.Ser2228Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7585742C>T | CA362695234 | DSP | c.7151C>T (p.Ser2384Phe) c.8480C>T (p.Ser2827Phe) c.6683C>T (p.Ser2228Phe) | ClinVar dbSNP |
6 | g.7585743C>A | CA448531236 | DSP | c.7152C>A (p.Ser2384=) c.8481C>A (p.Ser2827=) c.6684C>A (p.Ser2228=) | |
6 | g.7585743C= | CA1608615578 | DSP | c.7152C= (p.Ser2384=) c.8481C= (p.Ser2827=) c.6684C= (p.Ser2228=) | |
6 | g.7585743C>G | CA448531237 | DSP | c.7152C>G (p.Ser2384=) c.8481C>G (p.Ser2827=) c.6684C>G (p.Ser2228=) | ClinVar |
6 | g.7585743C>T | CA007634 | DSP | c.7152C>T (p.Ser2384=) c.8481C>T (p.Ser2827=) c.6684C>T (p.Ser2228=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585743_7585755delinsCGGCTCCCGCTCG | CA1608615570 | DSP | c.7152_7164delinsCGGCTCCCGCTCG (p.Ser2384=) c.8481_8493delinsCGGCTCCCGCTCG (p.Ser2827=) c.6684_6696delinsCGGCTCCCGCTCG (p.Ser2228=) | |
6 | g.7585743_7585761delinsCGGCTCCCGCTCGGGATCT | CA1608615573 | DSP | c.7152_7170delinsCGGCTCCCGCTCGGGATCT (p.Ser2384=) c.8481_8499delinsCGGCTCCCGCTCGGGATCT (p.Ser2827=) c.6684_6702delinsCGGCTCCCGCTCGGGATCT (p.Ser2228=) | |
6 | g.7585744G>A | CA052478 | DSP | c.7153G>A (p.Gly2385Ser) c.8482G>A (p.Gly2828Ser) c.6685G>A (p.Gly2229Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585744G>C | CA362695235 | DSP | c.7153G>C (p.Gly2385Arg) c.8482G>C (p.Gly2828Arg) c.6685G>C (p.Gly2229Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7585744G= | CA1608615585 | DSP | c.7153G= (p.Gly2385=) c.8482G= (p.Gly2828=) c.6685G= (p.Gly2229=) | |
6 | g.7585744G>T | CA362695236 | DSP | c.7153G>T (p.Gly2385Cys) c.8482G>T (p.Gly2828Cys) c.6685G>T (p.Gly2229Cys) | ClinVar dbSNP gnomAD v4 |
6 | g.7585746_7585757del | CA658796722 | DSP | c.7155_7166del (p.Ser2386_Gly2389del) c.8484_8495del (p.Ser2829_Gly2832del) c.6687_6698del (p.Ser2230_Gly2233del) | ClinVar dbSNP |
6 | g.7585744_7585761del | CA1085707252 | DSP | c.7153_7170del (p.Gly2385_Ser2390del) c.8482_8499del (p.Gly2828_Ser2833del) c.6685_6702del (p.Gly2229_Ser2234del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.7585745G>A | CA362695237 | DSP | c.7154G>A (p.Gly2385Asp) c.8483G>A (p.Gly2828Asp) c.6686G>A (p.Gly2229Asp) | |
6 | g.7585745G>C | CA362695238 | DSP | c.7154G>C (p.Gly2385Ala) c.8483G>C (p.Gly2828Ala) c.6686G>C (p.Gly2229Ala) | |
6 | g.7585745G>T | CA362695239 | DSP | c.7154G>T (p.Gly2385Val) c.8483G>T (p.Gly2828Val) c.6686G>T (p.Gly2229Val) | |
6 | g.7585746C>A | CA448531238 | DSP | c.7155C>A (p.Gly2385=) c.8484C>A (p.Gly2828=) c.6687C>A (p.Gly2229=) | |
6 | g.7585746C= | CA1608615592 | DSP | c.7155C= (p.Gly2385=) c.8484C= (p.Gly2828=) c.6687C= (p.Gly2229=) | |
6 | g.7585746C>G | CA448531239 | DSP | c.7155C>G (p.Gly2385=) c.8484C>G (p.Gly2828=) c.6687C>G (p.Gly2229=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585746C>T | CA448531240 | DSP | c.7155C>T (p.Gly2385=) c.8484C>T (p.Gly2828=) c.6687C>T (p.Gly2229=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585746_7585758delinsCTCCCGCTCGGGA | CA1608615590 | DSP | c.7155_7167delinsCTCCCGCTCGGGA (p.Gly2385=) c.8484_8496delinsCTCCCGCTCGGGA (p.Gly2828=) c.6687_6699delinsCTCCCGCTCGGGA (p.Gly2229=) | |
6 | g.7585747T>A | CA362695240 | DSP | c.7156T>A (p.Ser2386Thr) c.8485T>A (p.Ser2829Thr) c.6688T>A (p.Ser2230Thr) | |
6 | g.7585747T>C | CA362695241 | DSP | c.7156T>C (p.Ser2386Pro) c.8485T>C (p.Ser2829Pro) c.6688T>C (p.Ser2230Pro) | |
6 | g.7585747T>G | CA362695242 | DSP | c.7156T>G (p.Ser2386Ala) c.8485T>G (p.Ser2829Ala) c.6688T>G (p.Ser2230Ala) | |
6 | g.7585749_7585760del | CA007642 | DSP | c.7158_7169del (p.Arg2387_Ser2390del) c.8487_8498del (p.Arg2830_Ser2833del) c.6690_6701del (p.Arg2231_Ser2234del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585748C>A | CA362695245 | DSP | c.7157C>A (p.Ser2386Tyr) c.8486C>A (p.Ser2829Tyr) c.6689C>A (p.Ser2230Tyr) | |
6 | g.7585748C>G | CA362695243 | DSP | c.7157C>G (p.Ser2386Cys) c.8486C>G (p.Ser2829Cys) c.6689C>G (p.Ser2230Cys) | ClinVar dbSNP |
6 | g.7585748C>T | CA362695244 | DSP | c.7157C>T (p.Ser2386Phe) c.8486C>T (p.Ser2829Phe) c.6689C>T (p.Ser2230Phe) | |
6 | g.7585749C>A | CA448531242 | DSP | c.7158C>A (p.Ser2386=) c.8487C>A (p.Ser2829=) c.6690C>A (p.Ser2230=) | |
6 | g.7585749C= | CA1608615607 | DSP | c.7158C= (p.Ser2386=) c.8487C= (p.Ser2829=) c.6690C= (p.Ser2230=) | |
6 | g.7585749C>G | CA448531241 | DSP | c.7158C>G (p.Ser2386=) c.8487C>G (p.Ser2829=) c.6690C>G (p.Ser2230=) | |
6 | g.7585749C>T | CA448531243 | DSP | c.7158C>T (p.Ser2386=) c.8487C>T (p.Ser2829=) c.6690C>T (p.Ser2230=) | dbSNP |
6 | g.7585749_7585761delinsCCGCTCGGGATCT | CA1608615602 | DSP | c.7158_7170delinsCCGCTCGGGATCT (p.Ser2386=) c.8487_8499delinsCCGCTCGGGATCT (p.Ser2829=) c.6690_6702delinsCCGCTCGGGATCT (p.Ser2230=) | |
6 | g.7585749_7585773delinsCCGCTCGGGATCTCGCTCCGGATCT | CA1608615613 | DSP | c.7158_7182delinsCCGCTCGGGATCTCGCTCCGGATCT (p.Ser2386=) c.8487_8511delinsCCGCTCGGGATCTCGCTCCGGATCT (p.Ser2829=) c.6690_6714delinsCCGCTCGGGATCTCGCTCCGGATCT (p.Ser2230=) | |
6 | g.7585750C>A | CA362695246 | DSP | c.7159C>A (p.Arg2387Ser) c.8488C>A (p.Arg2830Ser) c.6691C>A (p.Arg2231Ser) | ClinVar dbSNP gnomAD v4 |
6 | g.7585750C= | CA1608615639 | DSP | c.7159C= (p.Arg2387=) c.8488C= (p.Arg2830=) c.6691C= (p.Arg2231=) | |
6 | g.7585750C>G | CA362695247 | DSP | c.7159C>G (p.Arg2387Gly) c.8488C>G (p.Arg2830Gly) c.6691C>G (p.Arg2231Gly) | |
6 | g.7585750C>T | CA362695248 | DSP | c.7159C>T (p.Arg2387Cys) c.8488C>T (p.Arg2830Cys) c.6691C>T (p.Arg2231Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585755_7585766dup | CA052498 | DSP | c.7164_7175dup (p.Ser2392_Gly2393insGlySerArgSer) c.8493_8504dup (p.Ser2835_Gly2836insGlySerArgSer) c.6696_6707dup (p.Ser2236_Gly2237insGlySerArgSer) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7585755_7585766del | CA565105938 | DSP | c.7164_7175del (p.Gly2389_Ser2392del) c.8493_8504del (p.Gly2832_Ser2835del) c.6696_6707del (p.Gly2233_Ser2236del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585755_7585778del | CA658683438 | DSP | c.7164_7187del (p.Gly2389_Ser2396del) c.8493_8516del (p.Gly2832_Ser2839del) c.6696_6719del (p.Gly2233_Ser2240del) | ClinVar dbSNP gnomAD v4 |
6 | g.7585751G>A | CA362695249 | DSP | c.7160G>A (p.Arg2387His) c.8489G>A (p.Arg2830His) c.6692G>A (p.Arg2231His) | dbSNP |
6 | g.7585751G>C | CA362695250 | DSP | c.7160G>C (p.Arg2387Pro) c.8489G>C (p.Arg2830Pro) c.6692G>C (p.Arg2231Pro) | |
6 | g.7585751G= | CA1608615649 | DSP | c.7160G= (p.Arg2387=) c.8489G= (p.Arg2830=) c.6692G= (p.Arg2231=) | |
6 | g.7585751G>T | CA362695251 | DSP | c.7160G>T (p.Arg2387Leu) c.8489G>T (p.Arg2830Leu) c.6692G>T (p.Arg2231Leu) | |
6 | g.7585752C>A | CA448531244 | DSP | c.7161C>A (p.Arg2387=) c.8490C>A (p.Arg2830=) c.6693C>A (p.Arg2231=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585752C= | CA1608615658 | DSP | c.7161C= (p.Arg2387=) c.8490C= (p.Arg2830=) c.6693C= (p.Arg2231=) | |
6 | g.7585752C>G | CA448531245 | DSP | c.7161C>G (p.Arg2387=) c.8490C>G (p.Arg2830=) c.6693C>G (p.Arg2231=) | |
6 | g.7585752C>T | CA448531246 | DSP | c.7161C>T (p.Arg2387=) c.8490C>T (p.Arg2830=) c.6693C>T (p.Arg2231=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585753T>A | CA362695252 | DSP | c.7162T>A (p.Ser2388Thr) c.8491T>A (p.Ser2831Thr) c.6694T>A (p.Ser2232Thr) | |
6 | g.7585753T>C | CA362695253 | DSP | c.7162T>C (p.Ser2388Pro) c.8491T>C (p.Ser2831Pro) c.6694T>C (p.Ser2232Pro) | gnomAD v4 |
6 | g.7585753T>G | CA362695254 | DSP | c.7162T>G (p.Ser2388Ala) c.8491T>G (p.Ser2831Ala) c.6694T>G (p.Ser2232Ala) | |
6 | g.7585754C>A | CA362695256 | DSP | c.7163C>A (p.Ser2388Ter) c.8492C>A (p.Ser2831Ter) c.6695C>A (p.Ser2232Ter) | gnomAD v4 |
6 | g.7585754C= | CA1608615662 | DSP | c.7163C= (p.Ser2388=) c.8492C= (p.Ser2831=) c.6695C= (p.Ser2232=) | |
6 | g.7585754C>G | CA362695255 | DSP | c.7163C>G (p.Ser2388Trp) c.8492C>G (p.Ser2831Trp) c.6695C>G (p.Ser2232Trp) | dbSNP |
6 | g.7585754C>T | CA052507 | DSP | c.7163C>T (p.Ser2388Leu) c.8492C>T (p.Ser2831Leu) c.6695C>T (p.Ser2232Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7585755G>A | CA3628105 | DSP | c.7164G>A (p.Ser2388=) c.8493G>A (p.Ser2831=) c.6696G>A (p.Ser2232=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585755G>C | CA007660 | DSP | c.7164G>C (p.Ser2388=) c.8493G>C (p.Ser2831=) c.6696G>C (p.Ser2232=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585755G= | CA1608615671 | DSP | c.7164G= (p.Ser2388=) c.8493G= (p.Ser2831=) c.6696G= (p.Ser2232=) | |
6 | g.7585755G>T | CA448531247 | DSP | c.7164G>T (p.Ser2388=) c.8493G>T (p.Ser2831=) c.6696G>T (p.Ser2232=) | gnomAD v4 |
6 | g.7585755_7585767delinsGGGATCTCGCTCC | CA1608615669 | DSP | c.7164_7176delinsGGGATCTCGCTCC (p.Ser2388=) c.8493_8505delinsGGGATCTCGCTCC (p.Ser2831=) c.6696_6708delinsGGGATCTCGCTCC (p.Ser2232=) | |
6 | g.7585756G>A | CA052563 | DSP | c.7165G>A (p.Gly2389Arg) c.8494G>A (p.Gly2832Arg) c.6697G>A (p.Gly2233Arg) | dbSNP ExAC gnomAD v2 |
6 | g.7585756G>C | CA362695257 | DSP | c.7165G>C (p.Gly2389Arg) c.8494G>C (p.Gly2832Arg) c.6697G>C (p.Gly2233Arg) | |
6 | g.7585756G= | CA1608615706 | DSP | c.7165G= (p.Gly2389=) c.8494G= (p.Gly2832=) c.6697G= (p.Gly2233=) | |
6 | g.7585756G>T | CA362695258 | DSP | c.7165G>T (p.Gly2389Ter) c.8494G>T (p.Gly2832Ter) c.6697G>T (p.Gly2233Ter) | |
6 | g.7585760_7585761insCCGCTCCGGATC | CA3628106 | DSP | c.7169_7170insCCGCTCCGGATC (p.Ser2390_Arg2391insArgSerGlySer) c.8498_8499insCCGCTCCGGATC (p.Ser2833_Arg2834insArgSerGlySer) c.6701_6702insCCGCTCCGGATC (p.Ser2234_Arg2235insArgSerGlySer) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585770_7585781dup | CA3628104 | DSP | c.7179_7190dup (p.Gly2397_Ser2398insSerArgSerGly) c.8508_8519dup (p.Gly2840_Ser2841insSerArgSerGly) c.6711_6722dup (p.Gly2241_Ser2242insSerArgSerGly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585770_7585781del | CA007688 | DSP | c.7179_7190del (p.Ser2394_Gly2397del) c.8508_8519del (p.Ser2837_Gly2840del) c.6711_6722del (p.Ser2238_Gly2241del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585757G>A | CA362695259 | DSP | c.7166G>A (p.Gly2389Glu) c.8495G>A (p.Gly2832Glu) c.6698G>A (p.Gly2233Glu) | |
6 | g.7585757G>C | CA362695260 | DSP | c.7166G>C (p.Gly2389Ala) c.8495G>C (p.Gly2832Ala) c.6698G>C (p.Gly2233Ala) | ClinVar dbSNP gnomAD v4 |
6 | g.7585757G= | CA1608615711 | DSP | c.7166G= (p.Gly2389=) c.8495G= (p.Gly2832=) c.6698G= (p.Gly2233=) | |
6 | g.7585757G>T | CA007670 | DSP | c.7166G>T (p.Gly2389Val) c.8495G>T (p.Gly2832Val) c.6698G>T (p.Gly2233Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585758A= | CA1608615722 | DSP | c.7167A= (p.Gly2389=) c.8496A= (p.Gly2832=) c.6699A= (p.Gly2233=) | |
6 | g.7585758A>C | CA052583 | DSP | c.7167A>C (p.Gly2389=) c.8496A>C (p.Gly2832=) c.6699A>C (p.Gly2233=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585758A>G | CA448531248 | DSP | c.7167A>G (p.Gly2389=) c.8496A>G (p.Gly2832=) c.6699A>G (p.Gly2233=) | |
6 | g.7585758A>T | CA448531249 | DSP | c.7167A>T (p.Gly2389=) c.8496A>T (p.Gly2832=) c.6699A>T (p.Gly2233=) | COSMIC |
6 | g.7585758_7585762dup | CA565105959 | DSP | c.7167_7171dup (p.Arg2391HisfsTer?) c.8496_8500dup (p.Arg2834HisfsTer?) c.6699_6703dup (p.Arg2235HisfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585759T>A | CA362695263 | DSP | c.7168T>A (p.Ser2390Thr) c.8497T>A (p.Ser2833Thr) c.6700T>A (p.Ser2234Thr) | |
6 | g.7585759T>C | CA362695262 | DSP | c.7168T>C (p.Ser2390Pro) c.8497T>C (p.Ser2833Pro) c.6700T>C (p.Ser2234Pro) | gnomAD v4 |
6 | g.7585759T>G | CA362695261 | DSP | c.7168T>G (p.Ser2390Ala) c.8497T>G (p.Ser2833Ala) c.6700T>G (p.Ser2234Ala) | |
6 | g.7585760C>A | CA362695264 | DSP | c.7169C>A (p.Ser2390Tyr) c.8498C>A (p.Ser2833Tyr) c.6701C>A (p.Ser2234Tyr) | gnomAD v4 |
6 | g.7585760C= | CA1608615733 | DSP | c.7169C= (p.Ser2390=) c.8498C= (p.Ser2833=) c.6701C= (p.Ser2234=) | |
6 | g.7585760C>G | CA052592 | DSP | c.7169C>G (p.Ser2390Cys) c.8498C>G (p.Ser2833Cys) c.6701C>G (p.Ser2234Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585760C>T | CA362695265 | DSP | c.7169C>T (p.Ser2390Phe) c.8498C>T (p.Ser2833Phe) c.6701C>T (p.Ser2234Phe) | ClinVar |
6 | g.7585761T>A | CA448531250 | DSP | c.7170T>A (p.Ser2390=) c.8499T>A (p.Ser2833=) c.6702T>A (p.Ser2234=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585761T>C | CA448531252 | DSP | c.7170T>C (p.Ser2390=) c.8499T>C (p.Ser2833=) c.6702T>C (p.Ser2234=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585761T>G | CA448531251 | DSP | c.7170T>G (p.Ser2390=) c.8499T>G (p.Ser2833=) c.6702T>G (p.Ser2234=) | |
6 | g.7585761T= | CA1608615739 | DSP | c.7170T= (p.Ser2390=) c.8499T= (p.Ser2833=) c.6702T= (p.Ser2234=) | |
6 | g.7585762C>A | CA362695266 | DSP | c.7171C>A (p.Arg2391Ser) c.8500C>A (p.Arg2834Ser) c.6703C>A (p.Arg2235Ser) | |
6 | g.7585762C= | CA1608615748 | DSP | c.7171C= (p.Arg2391=) c.8500C= (p.Arg2834=) c.6703C= (p.Arg2235=) | |
6 | g.7585762C>G | CA362695267 | DSP | c.7171C>G (p.Arg2391Gly) c.8500C>G (p.Arg2834Gly) c.6703C>G (p.Arg2235Gly) | |
6 | g.7585762C>T | CA052606 | DSP | c.7171C>T (p.Arg2391Cys) c.8500C>T (p.Arg2834Cys) c.6703C>T (p.Arg2235Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585763G>A | CA007679 | DSP | c.7172G>A (p.Arg2391His) c.8501G>A (p.Arg2834His) c.6704G>A (p.Arg2235His) | ClinVar dbSNP gnomAD v4 |
6 | g.7585763G>C | CA362695268 | DSP | c.7172G>C (p.Arg2391Pro) c.8501G>C (p.Arg2834Pro) c.6704G>C (p.Arg2235Pro) | |
6 | g.7585763G= | CA1608615758 | DSP | c.7172G= (p.Arg2391=) c.8501G= (p.Arg2834=) c.6704G= (p.Arg2235=) | |
6 | g.7585763G>T | CA362695269 | DSP | c.7172G>T (p.Arg2391Leu) c.8501G>T (p.Arg2834Leu) c.6704G>T (p.Arg2235Leu) | dbSNP gnomAD v4 |
6 | g.7585764C>A | CA448531255 | DSP | c.7173C>A (p.Arg2391=) c.8502C>A (p.Arg2834=) c.6705C>A (p.Arg2235=) | |
6 | g.7585764C>G | CA448531253 | DSP | c.7173C>G (p.Arg2391=) c.8502C>G (p.Arg2834=) c.6705C>G (p.Arg2235=) | |
6 | g.7585764C>T | CA448531254 | DSP | c.7173C>T (p.Arg2391=) c.8502C>T (p.Arg2834=) c.6705C>T (p.Arg2235=) | |
6 | g.7585765T>A | CA362695270 | DSP | c.7174T>A (p.Ser2392Thr) c.8503T>A (p.Ser2835Thr) c.6706T>A (p.Ser2236Thr) | |
6 | g.7585765T>C | CA362695271 | DSP | c.7174T>C (p.Ser2392Pro) c.8503T>C (p.Ser2835Pro) c.6706T>C (p.Ser2236Pro) | |
6 | g.7585765T>G | CA362695272 | DSP | c.7174T>G (p.Ser2392Ala) c.8503T>G (p.Ser2835Ala) c.6706T>G (p.Ser2236Ala) | |
6 | g.7585766C>A | CA362695275 | DSP | c.7175C>A (p.Ser2392Tyr) c.8504C>A (p.Ser2835Tyr) c.6707C>A (p.Ser2236Tyr) | |
6 | g.7585766C>G | CA362695274 | DSP | c.7175C>G (p.Ser2392Cys) c.8504C>G (p.Ser2835Cys) c.6707C>G (p.Ser2236Cys) | COSMIC |
6 | g.7585766C>T | CA362695273 | DSP | c.7175C>T (p.Ser2392Phe) c.8504C>T (p.Ser2835Phe) c.6707C>T (p.Ser2236Phe) | |
6 | g.7585767C>A | CA448531258 | DSP | c.7176C>A (p.Ser2392=) c.8505C>A (p.Ser2835=) c.6708C>A (p.Ser2236=) | |
6 | g.7585767C= | CA1608615764 | DSP | c.7176C= (p.Ser2392=) c.8505C= (p.Ser2835=) c.6708C= (p.Ser2236=) | |
6 | g.7585767C>G | CA448531256 | DSP | c.7176C>G (p.Ser2392=) c.8505C>G (p.Ser2835=) c.6708C>G (p.Ser2236=) | ClinVar dbSNP gnomAD v4 COSMIC |
6 | g.7585767C>T | CA448531257 | DSP | c.7176C>T (p.Ser2392=) c.8505C>T (p.Ser2835=) c.6708C>T (p.Ser2236=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585768G>A | CA052612 | DSP | c.7177G>A (p.Gly2393Arg) c.8506G>A (p.Gly2836Arg) c.6709G>A (p.Gly2237Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7585768G>C | CA362695276 | DSP | c.7177G>C (p.Gly2393Arg) c.8506G>C (p.Gly2836Arg) c.6709G>C (p.Gly2237Arg) | |
6 | g.7585768G= | CA1608615772 | DSP | c.7177G= (p.Gly2393=) c.8506G= (p.Gly2836=) c.6709G= (p.Gly2237=) | |
6 | g.7585768G>T | CA362695277 | DSP | c.7177G>T (p.Gly2393Ter) c.8506G>T (p.Gly2836Ter) c.6709G>T (p.Gly2237Ter) | |
6 | g.7585769G>A | CA052621 | DSP | c.7178G>A (p.Gly2393Glu) c.8507G>A (p.Gly2836Glu) c.6710G>A (p.Gly2237Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7585769G>C | CA362695278 | DSP | c.7178G>C (p.Gly2393Ala) c.8507G>C (p.Gly2836Ala) c.6710G>C (p.Gly2237Ala) | ClinVar dbSNP gnomAD v4 |
6 | g.7585769G= | CA1608615782 | DSP | c.7178G= (p.Gly2393=) c.8507G= (p.Gly2836=) c.6710G= (p.Gly2237=) | |
6 | g.7585769G>T | CA362695279 | DSP | c.7178G>T (p.Gly2393Val) c.8507G>T (p.Gly2836Val) c.6710G>T (p.Gly2237Val) | gnomAD v4 |
6 | g.7585770A= | CA1608615793 | DSP | c.7179A= (p.Gly2393=) c.8508A= (p.Gly2836=) c.6711A= (p.Gly2237=) | |
6 | g.7585770A>C | CA448531259 | DSP | c.7179A>C (p.Gly2393=) c.8508A>C (p.Gly2836=) c.6711A>C (p.Gly2237=) | |
6 | g.7585770A>G | CA052628 | DSP | c.7179A>G (p.Gly2393=) c.8508A>G (p.Gly2836=) c.6711A>G (p.Gly2237=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585770A>T | CA448531260 | DSP | c.7179A>T (p.Gly2393=) c.8508A>T (p.Gly2836=) c.6711A>T (p.Gly2237=) | |
6 | g.7585770_7585779delinsATCTCGCTCC | CA1608615789 | DSP | c.7179_7188delinsATCTCGCTCC (p.Gly2393=) c.8508_8517delinsATCTCGCTCC (p.Gly2836=) c.6711_6720delinsATCTCGCTCC (p.Gly2237=) | |
6 | g.7585770_7585779delinsGTCCCGCAGT | CA913190060 | DSP | c.7179_7188delinsGTCCCGCAGT (p.Gly2393=) c.8508_8517delinsGTCCCGCAGT (p.Gly2836=) c.6711_6720delinsGTCCCGCAGT (p.Gly2237=) | ClinVar dbSNP |
6 | g.7585771T>A | CA362695280 | DSP | c.7180T>A (p.Ser2394Thr) c.8509T>A (p.Ser2837Thr) c.6712T>A (p.Ser2238Thr) | ClinVar dbSNP |
6 | g.7585771T>C | CA362695281 | DSP | c.7180T>C (p.Ser2394Pro) c.8509T>C (p.Ser2837Pro) c.6712T>C (p.Ser2238Pro) | |
6 | g.7585771T>G | CA362695282 | DSP | c.7180T>G (p.Ser2394Ala) c.8509T>G (p.Ser2837Ala) c.6712T>G (p.Ser2238Ala) | |
6 | g.7585771T= | CA1608615802 | DSP | c.7180T= (p.Ser2394=) c.8509T= (p.Ser2837=) c.6712T= (p.Ser2238=) | |
6 | g.7585772C>A | CA362695283 | DSP | c.7181C>A (p.Ser2394Tyr) c.8510C>A (p.Ser2837Tyr) c.6713C>A (p.Ser2238Tyr) | |
6 | g.7585772C>G | CA362695284 | DSP | c.7181C>G (p.Ser2394Cys) c.8510C>G (p.Ser2837Cys) c.6713C>G (p.Ser2238Cys) | dbSNP |
6 | g.7585772C>T | CA362695285 | DSP | c.7181C>T (p.Ser2394Phe) c.8510C>T (p.Ser2837Phe) c.6713C>T (p.Ser2238Phe) | gnomAD v4 |
6 | g.7585773T>A | CA448531261 | DSP | c.7182T>A (p.Ser2394=) c.8511T>A (p.Ser2837=) c.6714T>A (p.Ser2238=) | |
6 | g.7585773T>C | CA052649 | DSP | c.7182T>C (p.Ser2394=) c.8511T>C (p.Ser2837=) c.6714T>C (p.Ser2238=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585773T>G | CA448531262 | DSP | c.7182T>G (p.Ser2394=) c.8511T>G (p.Ser2837=) c.6714T>G (p.Ser2238=) | |
6 | g.7585773T= | CA1608615811 | DSP | c.7182T= (p.Ser2394=) c.8511T= (p.Ser2837=) c.6714T= (p.Ser2238=) | |
6 | g.7585774C>A | CA362695287 | DSP | c.7183C>A (p.Arg2395Ser) c.8512C>A (p.Arg2838Ser) c.6715C>A (p.Arg2239Ser) | gnomAD v4 |
6 | g.7585774C= | CA1608615823 | DSP | c.7183C= (p.Arg2395=) c.8512C= (p.Arg2838=) c.6715C= (p.Arg2239=) | |
6 | g.7585774C>G | CA362695286 | DSP | c.7183C>G (p.Arg2395Gly) c.8512C>G (p.Arg2838Gly) c.6715C>G (p.Arg2239Gly) | |
6 | g.7585774C>T | CA052658 | DSP | c.7183C>T (p.Arg2395Cys) c.8512C>T (p.Arg2838Cys) c.6715C>T (p.Arg2239Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7585777_7585788dup | CA2677222124 | DSP | c.7186_7197dup (p.Arg2399_Ser2400insSerGlySerArg) c.8515_8526dup (p.Arg2842_Ser2843insSerGlySerArg) c.6718_6729dup (p.Arg2243_Ser2244insSerGlySerArg) | ClinVar gnomAD v4 |
6 | g.7585775G>A | CA133978230 | DSP | c.7184G>A (p.Arg2395His) c.8513G>A (p.Arg2838His) c.6716G>A (p.Arg2239His) | ClinVar dbSNP gnomAD v4 |
6 | g.7585775G>C | CA362695288 | DSP | c.7184G>C (p.Arg2395Pro) c.8513G>C (p.Arg2838Pro) c.6716G>C (p.Arg2239Pro) | dbSNP |
6 | g.7585775G= | CA1608615828 | DSP | c.7184G= (p.Arg2395=) c.8513G= (p.Arg2838=) c.6716G= (p.Arg2239=) | |
6 | g.7585775G>T | CA362695289 | DSP | c.7184G>T (p.Arg2395Leu) c.8513G>T (p.Arg2838Leu) c.6716G>T (p.Arg2239Leu) | gnomAD v4 |
6 | g.7585776C>A | CA448531263 | DSP | c.7185C>A (p.Arg2395=) c.8514C>A (p.Arg2838=) c.6717C>A (p.Arg2239=) | |
6 | g.7585776C= | CA1608615834 | DSP | c.7185C= (p.Arg2395=) c.8514C= (p.Arg2838=) c.6717C= (p.Arg2239=) | |
6 | g.7585776C>G | CA448531264 | DSP | c.7185C>G (p.Arg2395=) c.8514C>G (p.Arg2838=) c.6717C>G (p.Arg2239=) | gnomAD v4 |
6 | g.7585776C>T | CA448531265 | DSP | c.7185C>T (p.Arg2395=) c.8514C>T (p.Arg2838=) c.6717C>T (p.Arg2239=) | |
6 | g.7585776_7585777insAG | CA052667 | DSP | c.7185_7186insAG (p.Gly2397ProfsTer?) c.8514_8515insAG (p.Gly2840ProfsTer?) c.6717_6718insAG (p.Gly2241ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585777T>A | CA362695290 | DSP | c.7186T>A (p.Ser2396Thr) c.8515T>A (p.Ser2839Thr) c.6718T>A (p.Ser2240Thr) | dbSNP |
6 | g.7585777T>C | CA362695291 | DSP | c.7186T>C (p.Ser2396Pro) c.8515T>C (p.Ser2839Pro) c.6718T>C (p.Ser2240Pro) | |
6 | g.7585777T>G | CA362695292 | DSP | c.7186T>G (p.Ser2396Ala) c.8515T>G (p.Ser2839Ala) c.6718T>G (p.Ser2240Ala) | ClinVar |
6 | g.7585777T= | CA1608615845 | DSP | c.7186T= (p.Ser2396=) c.8515T= (p.Ser2839=) c.6718T= (p.Ser2240=) | |
6 | g.7585777_7585779delinsAGT | CA658796723 | DSP | c.7186_7188delinsAGT (p.Ser2396=) c.8515_8517delinsAGT (p.Ser2839=) c.6718_6720delinsAGT (p.Ser2240=) | ClinVar dbSNP |
6 | g.7585777_7585779delinsTCC | CA1608615842 | DSP | c.7186_7188delinsTCC (p.Ser2396=) c.8515_8517delinsTCC (p.Ser2839=) c.6718_6720delinsTCC (p.Ser2240=) | |
6 | g.7585778C>A | CA362695293 | DSP | c.7187C>A (p.Ser2396Tyr) c.8516C>A (p.Ser2839Tyr) c.6719C>A (p.Ser2240Tyr) | |
6 | g.7585778C= | CA1608615852 | DSP | c.7187C= (p.Ser2396=) c.8516C= (p.Ser2839=) c.6719C= (p.Ser2240=) | |
6 | g.7585778C>G | CA052682 | DSP | c.7187C>G (p.Ser2396Cys) c.8516C>G (p.Ser2839Cys) c.6719C>G (p.Ser2240Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7585778C>T | CA362695294 | DSP | c.7187C>T (p.Ser2396Phe) c.8516C>T (p.Ser2839Phe) c.6719C>T (p.Ser2240Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585778_7585779del | CA052674 | DSP | c.7187_7188del (p.Ser2396TrpfsTer12) c.8516_8517del (p.Ser2839TrpfsTer12) c.6719_6720del (p.Ser2240TrpfsTer12) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585779C>A | CA448531266 | DSP | c.7188C>A (p.Ser2396=) c.8517C>A (p.Ser2839=) c.6720C>A (p.Ser2240=) | |
6 | g.7585779C= | CA1608615856 | DSP | c.7188C= (p.Ser2396=) c.8517C= (p.Ser2839=) c.6720C= (p.Ser2240=) | |
6 | g.7585779C>G | CA448531267 | DSP | c.7188C>G (p.Ser2396=) c.8517C>G (p.Ser2839=) c.6720C>G (p.Ser2240=) | ClinVar gnomAD v4 |
6 | g.7585779C>T | CA448531268 | DSP | c.7188C>T (p.Ser2396=) c.8517C>T (p.Ser2839=) c.6720C>T (p.Ser2240=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585780G>A | CA362695296 | DSP | c.7189G>A (p.Gly2397Arg) c.8518G>A (p.Gly2840Arg) c.6721G>A (p.Gly2241Arg) | ClinVar dbSNP |
6 | g.7585780G>C | CA362695295 | DSP | c.7189G>C (p.Gly2397Arg) c.8518G>C (p.Gly2840Arg) c.6721G>C (p.Gly2241Arg) | |
6 | g.7585780G= | CA1608615864 | DSP | c.7189G= (p.Gly2397=) c.8518G= (p.Gly2840=) c.6721G= (p.Gly2241=) | |
6 | g.7585780G>T | CA052690 | DSP | c.7189G>T (p.Gly2397Trp) c.8518G>T (p.Gly2840Trp) c.6721G>T (p.Gly2241Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7585788_7585799dup | CA1608615861 | DSP | c.7197_7208dup (p.Arg2403_Arg2404insSerGlySerArg) c.8526_8537dup (p.Arg2846_Arg2847insSerGlySerArg) c.6729_6740dup (p.Arg2247_Arg2248insSerGlySerArg) | dbSNP |
6 | g.7585788_7585799del | CA2677222188 | DSP | c.7197_7208del (p.Ser2400_Arg2403del) c.8526_8537del (p.Ser2843_Arg2846del) c.6729_6740del (p.Ser2244_Arg2247del) | gnomAD v4 |
6 | g.7585781G>A | CA362695299 | DSP | c.7190G>A (p.Gly2397Glu) c.8519G>A (p.Gly2840Glu) c.6722G>A (p.Gly2241Glu) | ClinVar dbSNP |
6 | g.7585781G>C | CA362695297 | DSP | c.7190G>C (p.Gly2397Ala) c.8519G>C (p.Gly2840Ala) c.6722G>C (p.Gly2241Ala) | |
6 | g.7585781G= | CA1608615870 | DSP | c.7190G= (p.Gly2397=) c.8519G= (p.Gly2840=) c.6722G= (p.Gly2241=) | |
6 | g.7585781G>T | CA362695298 | DSP | c.7190G>T (p.Gly2397Val) c.8519G>T (p.Gly2840Val) c.6722G>T (p.Gly2241Val) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585782G>A | CA448531269 | DSP | c.7191G>A (p.Gly2397=) c.8520G>A (p.Gly2840=) c.6723G>A (p.Gly2241=) | |
6 | g.7585782G>C | CA448531270 | DSP | c.7191G>C (p.Gly2397=) c.8520G>C (p.Gly2840=) c.6723G>C (p.Gly2241=) | |
6 | g.7585782G>T | CA448531271 | DSP | c.7191G>T (p.Gly2397=) c.8520G>T (p.Gly2840=) c.6723G>T (p.Gly2241=) | gnomAD v4 |
6 | g.7585783T>A | CA362695300 | DSP | c.7192T>A (p.Ser2398Thr) c.8521T>A (p.Ser2841Thr) c.6724T>A (p.Ser2242Thr) | |
6 | g.7585783T>C | CA362695301 | DSP | c.7192T>C (p.Ser2398Pro) c.8521T>C (p.Ser2841Pro) c.6724T>C (p.Ser2242Pro) | |
6 | g.7585783T>G | CA362695302 | DSP | c.7192T>G (p.Ser2398Ala) c.8521T>G (p.Ser2841Ala) c.6724T>G (p.Ser2242Ala) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.7585783T= | CA1608615900 | DSP | c.7192T= (p.Ser2398=) c.8521T= (p.Ser2841=) c.6724T= (p.Ser2242=) | |
6 | g.7585784C>A | CA362695303 | DSP | c.7193C>A (p.Ser2398Tyr) c.8522C>A (p.Ser2841Tyr) c.6725C>A (p.Ser2242Tyr) | |
6 | g.7585784C>G | CA362695304 | DSP | c.7193C>G (p.Ser2398Cys) c.8522C>G (p.Ser2841Cys) c.6725C>G (p.Ser2242Cys) | |
6 | g.7585784C>T | CA362695305 | DSP | c.7193C>T (p.Ser2398Phe) c.8522C>T (p.Ser2841Phe) c.6725C>T (p.Ser2242Phe) | |
6 | g.7585785C>A | CA448531272 | DSP | c.7194C>A (p.Ser2398=) c.8523C>A (p.Ser2841=) c.6726C>A (p.Ser2242=) | |
6 | g.7585785C>G | CA448531273 | DSP | c.7194C>G (p.Ser2398=) c.8523C>G (p.Ser2841=) c.6726C>G (p.Ser2242=) | |
6 | g.7585785C>T | CA448531274 | DSP | c.7194C>T (p.Ser2398=) c.8523C>T (p.Ser2841=) c.6726C>T (p.Ser2242=) | gnomAD v4 |
6 | g.7585786C>A | CA362695306 | DSP | c.7195C>A (p.Arg2399Ser) c.8524C>A (p.Arg2842Ser) c.6727C>A (p.Arg2243Ser) | |
6 | g.7585786C= | CA1608615915 | DSP | c.7195C= (p.Arg2399=) c.8524C= (p.Arg2842=) c.6727C= (p.Arg2243=) | |
6 | g.7585786C>G | CA362695307 | DSP | c.7195C>G (p.Arg2399Gly) c.8524C>G (p.Arg2842Gly) c.6727C>G (p.Arg2243Gly) | ClinVar |
6 | g.7585786C>T | CA16612075 | DSP | c.7195C>T (p.Arg2399Cys) c.8524C>T (p.Arg2842Cys) c.6727C>T (p.Arg2243Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.7585787G>A | CA362695308 | DSP | c.7196G>A (p.Arg2399His) c.8525G>A (p.Arg2842His) c.6728G>A (p.Arg2243His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7585787G>C | CA362695309 | DSP | c.7196G>C (p.Arg2399Pro) c.8525G>C (p.Arg2842Pro) c.6728G>C (p.Arg2243Pro) | |
6 | g.7585787G= | CA1608615923 | DSP | c.7196G= (p.Arg2399=) c.8525G= (p.Arg2842=) c.6728G= (p.Arg2243=) | |
6 | g.7585787G>T | CA362695310 | DSP | c.7196G>T (p.Arg2399Leu) c.8525G>T (p.Arg2842Leu) c.6728G>T (p.Arg2243Leu) | ClinVar dbSNP |
6 | g.7585788C>A | CA448531275 | DSP | c.7197C>A (p.Arg2399=) c.8526C>A (p.Arg2842=) c.6729C>A (p.Arg2243=) | |
6 | g.7585788C= | CA1608615931 | DSP | c.7197C= (p.Arg2399=) c.8526C= (p.Arg2842=) c.6729C= (p.Arg2243=) | |
6 | g.7585788C>G | CA133978248 | DSP | c.7197C>G (p.Arg2399=) c.8526C>G (p.Arg2842=) c.6729C>G (p.Arg2243=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.7585788C>T | CA448531276 | DSP | c.7197C>T (p.Arg2399=) c.8526C>T (p.Arg2842=) c.6729C>T (p.Arg2243=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7585788_7585800delinsCAGTGGGTCCCGG | CA1608615936 | DSP | c.7197_7209delinsCAGTGGGTCCCGG (p.Arg2399=) c.8526_8538delinsCAGTGGGTCCCGG (p.Arg2842=) c.6729_6741delinsCAGTGGGTCCCGG (p.Arg2243=) | |
6 | g.7585789A= | CA1608615967 | DSP | c.7198A= (p.Ser2400=) c.8527A= (p.Ser2843=) c.6730A= (p.Ser2244=) | |
6 | g.7585789A>C | CA362695311 | DSP | c.7198A>C (p.Ser2400Arg) c.8527A>C (p.Ser2843Arg) c.6730A>C (p.Ser2244Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585789A>G | CA362695312 | DSP | c.7198A>G (p.Ser2400Gly) c.8527A>G (p.Ser2843Gly) c.6730A>G (p.Ser2244Gly) | |
6 | g.7585789A>T | CA362695313 | DSP | c.7198A>T (p.Ser2400Cys) c.8527A>T (p.Ser2843Cys) c.6730A>T (p.Ser2244Cys) | dbSNP |
6 | g.7585791_7585802del | CA007705 | DSP | c.7200_7211del (p.Ser2400_Arg2403del) c.8529_8540del (p.Ser2843_Arg2846del) c.6732_6743del (p.Ser2244_Arg2247del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585790G>A | CA362695314 | DSP | c.7199G>A (p.Ser2400Asn) c.8528G>A (p.Ser2843Asn) c.6731G>A (p.Ser2244Asn) | |
6 | g.7585790G>C | CA362695315 | DSP | c.7199G>C (p.Ser2400Thr) c.8528G>C (p.Ser2843Thr) c.6731G>C (p.Ser2244Thr) | |
6 | g.7585790G= | CA1608615976 | DSP | c.7199G= (p.Ser2400=) c.8528G= (p.Ser2843=) c.6731G= (p.Ser2244=) | |
6 | g.7585790G>T | CA362695316 | DSP | c.7199G>T (p.Ser2400Ile) c.8528G>T (p.Ser2843Ile) c.6731G>T (p.Ser2244Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585791T>A | CA362695317 | DSP | c.7200T>A (p.Ser2400Arg) c.8529T>A (p.Ser2843Arg) c.6732T>A (p.Ser2244Arg) | |
6 | g.7585791T>C | CA052709 | DSP | c.7200T>C (p.Ser2400=) c.8529T>C (p.Ser2843=) c.6732T>C (p.Ser2244=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585791T>G | CA362695318 | DSP | c.7200T>G (p.Ser2400Arg) c.8529T>G (p.Ser2843Arg) c.6732T>G (p.Ser2244Arg) | gnomAD v4 |
6 | g.7585791T= | CA1608615984 | DSP | c.7200T= (p.Ser2400=) c.8529T= (p.Ser2843=) c.6732T= (p.Ser2244=) | |
6 | g.7585792G>A | CA362695319 | DSP | c.7201G>A (p.Gly2401Arg) c.8530G>A (p.Gly2844Arg) c.6733G>A (p.Gly2245Arg) | gnomAD v4 |
6 | g.7585792G>C | CA362695320 | DSP | c.7201G>C (p.Gly2401Arg) c.8530G>C (p.Gly2844Arg) c.6733G>C (p.Gly2245Arg) | |
6 | g.7585792G>T | CA362695321 | DSP | c.7201G>T (p.Gly2401Trp) c.8530G>T (p.Gly2844Trp) c.6733G>T (p.Gly2245Trp) | COSMIC |
6 | g.7585793G>A | CA362695322 | DSP | c.7202G>A (p.Gly2401Glu) c.8531G>A (p.Gly2844Glu) c.6734G>A (p.Gly2245Glu) | |
6 | g.7585793G>C | CA052732 | DSP | c.7202G>C (p.Gly2401Ala) c.8531G>C (p.Gly2844Ala) c.6734G>C (p.Gly2245Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585793G= | CA1608616000 | DSP | c.7202G= (p.Gly2401=) c.8531G= (p.Gly2844=) c.6734G= (p.Gly2245=) | |
6 | g.7585793G>T | CA007722 | DSP | c.7202G>T (p.Gly2401Val) c.8531G>T (p.Gly2844Val) c.6734G>T (p.Gly2245Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585794G>A | CA448531279 | DSP | c.7203G>A (p.Gly2401=) c.8532G>A (p.Gly2844=) c.6735G>A (p.Gly2245=) | |
6 | g.7585794G>C | CA448531277 | DSP | c.7203G>C (p.Gly2401=) c.8532G>C (p.Gly2844=) c.6735G>C (p.Gly2245=) | |
6 | g.7585794G>T | CA448531278 | DSP | c.7203G>T (p.Gly2401=) c.8532G>T (p.Gly2844=) c.6735G>T (p.Gly2245=) | gnomAD v4 |
6 | g.7585795T>A | CA362695323 | DSP | c.7204T>A (p.Ser2402Thr) c.8533T>A (p.Ser2845Thr) c.6736T>A (p.Ser2246Thr) | dbSNP |
6 | g.7585795T>C | CA362695325 | DSP | c.7204T>C (p.Ser2402Pro) c.8533T>C (p.Ser2845Pro) c.6736T>C (p.Ser2246Pro) | gnomAD v4 |
6 | g.7585795T>G | CA362695324 | DSP | c.7204T>G (p.Ser2402Ala) c.8533T>G (p.Ser2845Ala) c.6736T>G (p.Ser2246Ala) | |
6 | g.7585795T= | CA1608616006 | DSP | c.7204T= (p.Ser2402=) c.8533T= (p.Ser2845=) c.6736T= (p.Ser2246=) | |
6 | g.7585796C>A | CA362695326 | DSP | c.7205C>A (p.Ser2402Tyr) c.8534C>A (p.Ser2845Tyr) c.6737C>A (p.Ser2246Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585796C= | CA1608616010 | DSP | c.7205C= (p.Ser2402=) c.8534C= (p.Ser2845=) c.6737C= (p.Ser2246=) | |
6 | g.7585796C>G | CA362695327 | DSP | c.7205C>G (p.Ser2402Cys) c.8534C>G (p.Ser2845Cys) c.6737C>G (p.Ser2246Cys) | |
6 | g.7585796C>T | CA362695328 | DSP | c.7205C>T (p.Ser2402Phe) c.8534C>T (p.Ser2845Phe) c.6737C>T (p.Ser2246Phe) | |
6 | g.7585797C>A | CA448531280 | DSP | c.7206C>A (p.Ser2402=) c.8535C>A (p.Ser2845=) c.6738C>A (p.Ser2246=) | |
6 | g.7585797C= | CA1608616017 | DSP | c.7206C= (p.Ser2402=) c.8535C= (p.Ser2845=) c.6738C= (p.Ser2246=) | |
6 | g.7585797C>G | CA448531282 | DSP | c.7206C>G (p.Ser2402=) c.8535C>G (p.Ser2845=) c.6738C>G (p.Ser2246=) | |
6 | g.7585797C>T | CA448531281 | DSP | c.7206C>T (p.Ser2402=) c.8535C>T (p.Ser2845=) c.6738C>T (p.Ser2246=) | dbSNP |
6 | g.7585798C>A | CA448531283 | DSP | c.7207C>A (p.Arg2403=) c.8536C>A (p.Arg2846=) c.6739C>A (p.Arg2247=) | |
6 | g.7585798C= | CA1608616021 | DSP | c.7207C= (p.Arg2403=) c.8536C= (p.Arg2846=) c.6739C= (p.Arg2247=) | |
6 | g.7585798C>G | CA007730 | DSP | c.7207C>G (p.Arg2403Gly) c.8536C>G (p.Arg2846Gly) c.6739C>G (p.Arg2247Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585798C>T | CA362695329 | DSP | c.7207C>T (p.Arg2403Trp) c.8536C>T (p.Arg2846Trp) c.6739C>T (p.Arg2247Trp) | ClinVar gnomAD v4 |
6 | g.7585799G>A | CA052753 | DSP | c.7208G>A (p.Arg2403Gln) c.8537G>A (p.Arg2846Gln) c.6740G>A (p.Arg2247Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7585799G>C | CA362695330 | DSP | c.7208G>C (p.Arg2403Pro) c.8537G>C (p.Arg2846Pro) c.6740G>C (p.Arg2247Pro) | |
6 | g.7585799G= | CA1608616024 | DSP | c.7208G= (p.Arg2403=) c.8537G= (p.Arg2846=) c.6740G= (p.Arg2247=) | |
6 | g.7585799G>T | CA362695331 | DSP | c.7208G>T (p.Arg2403Leu) c.8537G>T (p.Arg2846Leu) c.6740G>T (p.Arg2247Leu) | |
6 | g.7585800G>A | CA448531284 | DSP | c.7209G>A (p.Arg2403=) c.8538G>A (p.Arg2846=) c.6741G>A (p.Arg2247=) | |
6 | g.7585800G>C | CA448531285 | DSP | c.7209G>C (p.Arg2403=) c.8538G>C (p.Arg2846=) c.6741G>C (p.Arg2247=) | dbSNP |
6 | g.7585800G= | CA1608616027 | DSP | c.7209G= (p.Arg2403=) c.8538G= (p.Arg2846=) c.6741G= (p.Arg2247=) | |
6 | g.7585800G>T | CA448531286 | DSP | c.7209G>T (p.Arg2403=) c.8538G>T (p.Arg2846=) c.6741G>T (p.Arg2247=) | |
6 | g.7585801A= | CA1608616031 | DSP | c.7210A= (p.Arg2404=) c.8539A= (p.Arg2847=) c.6742A= (p.Arg2248=) | |
6 | g.7585801A>C | CA133978309 | DSP | c.7210A>C (p.Arg2404=) c.8539A>C (p.Arg2847=) c.6742A>C (p.Arg2248=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585801A>G | CA362695332 | DSP | c.7210A>G (p.Arg2404Gly) c.8539A>G (p.Arg2847Gly) c.6742A>G (p.Arg2248Gly) | |
6 | g.7585801A>T | CA362695333 | DSP | c.7210A>T (p.Arg2404Ter) c.8539A>T (p.Arg2847Ter) c.6742A>T (p.Arg2248Ter) | |
6 | g.7585802G>A | CA362695336 | DSP | c.7211G>A (p.Arg2404Lys) c.8540G>A (p.Arg2847Lys) c.6743G>A (p.Arg2248Lys) | dbSNP |
6 | g.7585802G>C | CA362695335 | DSP | c.7211G>C (p.Arg2404Thr) c.8540G>C (p.Arg2847Thr) c.6743G>C (p.Arg2248Thr) | |
6 | g.7585802G= | CA1608616034 | DSP | c.7211G= (p.Arg2404=) c.8540G= (p.Arg2847=) c.6743G= (p.Arg2248=) | |
6 | g.7585802G>T | CA362695334 | DSP | c.7211G>T (p.Arg2404Ile) c.8540G>T (p.Arg2847Ile) c.6743G>T (p.Arg2248Ile) | |
6 | g.7585803A>C | CA362695337 | DSP | c.7212A>C (p.Arg2404Ser) c.8541A>C (p.Arg2847Ser) c.6744A>C (p.Arg2248Ser) | |
6 | g.7585803A>G | CA448531287 | DSP | c.7212A>G (p.Arg2404=) c.8541A>G (p.Arg2847=) c.6744A>G (p.Arg2248=) | |
6 | g.7585803A>T | CA362695338 | DSP | c.7212A>T (p.Arg2404Ser) c.8541A>T (p.Arg2847Ser) c.6744A>T (p.Arg2248Ser) | |
6 | g.7585804G>A | CA362695339 | DSP | c.7213G>A (p.Gly2405Arg) c.8542G>A (p.Gly2848Arg) c.6745G>A (p.Gly2249Arg) | gnomAD v4 |
6 | g.7585804G>C | CA362695340 | DSP | c.7213G>C (p.Gly2405Arg) c.8542G>C (p.Gly2848Arg) c.6745G>C (p.Gly2249Arg) | |
6 | g.7585804G>T | CA362695341 | DSP | c.7213G>T (p.Gly2405Ter) c.8542G>T (p.Gly2848Ter) c.6745G>T (p.Gly2249Ter) | |
6 | g.7585805G>A | CA362695342 | DSP | c.7214G>A (p.Gly2405Glu) c.8543G>A (p.Gly2848Glu) c.6746G>A (p.Gly2249Glu) | gnomAD v4 COSMIC |
6 | g.7585805G>C | CA362695343 | DSP | c.7214G>C (p.Gly2405Ala) c.8543G>C (p.Gly2848Ala) c.6746G>C (p.Gly2249Ala) | |
6 | g.7585805G>T | CA362695344 | DSP | c.7214G>T (p.Gly2405Val) c.8543G>T (p.Gly2848Val) c.6746G>T (p.Gly2249Val) | |
6 | g.7585806A= | CA1608616041 | DSP | c.7215A= (p.Gly2405=) c.8544A= (p.Gly2848=) c.6747A= (p.Gly2249=) | |
6 | g.7585806A>C | CA052766 | DSP | c.7215A>C (p.Gly2405=) c.8544A>C (p.Gly2848=) c.6747A>C (p.Gly2249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585806A>G | CA448531288 | DSP | c.7215A>G (p.Gly2405=) c.8544A>G (p.Gly2848=) c.6747A>G (p.Gly2249=) | |
6 | g.7585806A>T | CA448531289 | DSP | c.7215A>T (p.Gly2405=) c.8544A>T (p.Gly2848=) c.6747A>T (p.Gly2249=) | ClinVar gnomAD v4 |
6 | g.7585807A>C | CA362695345 | DSP | c.7216A>C (p.Ser2406Arg) c.8545A>C (p.Ser2849Arg) c.6748A>C (p.Ser2250Arg) | |
6 | g.7585807A>G | CA362695346 | DSP | c.7216A>G (p.Ser2406Gly) c.8545A>G (p.Ser2849Gly) c.6748A>G (p.Ser2250Gly) | |
6 | g.7585807A>T | CA362695347 | DSP | c.7216A>T (p.Ser2406Cys) c.8545A>T (p.Ser2849Cys) c.6748A>T (p.Ser2250Cys) | |
6 | g.7585808G>A | CA362695350 | DSP | c.7217G>A (p.Ser2406Asn) c.8546G>A (p.Ser2849Asn) c.6749G>A (p.Ser2250Asn) | |
6 | g.7585808G>C | CA362695349 | DSP | c.7217G>C (p.Ser2406Thr) c.8546G>C (p.Ser2849Thr) c.6749G>C (p.Ser2250Thr) | |
6 | g.7585808G>T | CA362695348 | DSP | c.7217G>T (p.Ser2406Ile) c.8546G>T (p.Ser2849Ile) c.6749G>T (p.Ser2250Ile) | gnomAD v4 |
6 | g.7585809C>A | CA362695351 | DSP | c.7218C>A (p.Ser2406Arg) c.8547C>A (p.Ser2849Arg) c.6750C>A (p.Ser2250Arg) | |
6 | g.7585809C= | CA1608616046 | DSP | c.7218C= (p.Ser2406=) c.8547C= (p.Ser2849=) c.6750C= (p.Ser2250=) | |
6 | g.7585809C>G | CA362695352 | DSP | c.7218C>G (p.Ser2406Arg) c.8547C>G (p.Ser2849Arg) c.6750C>G (p.Ser2250Arg) | gnomAD v4 |
6 | g.7585809C>T | CA448531290 | DSP | c.7218C>T (p.Ser2406=) c.8547C>T (p.Ser2849=) c.6750C>T (p.Ser2250=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.7585810T>A | CA362695353 | DSP | c.7219T>A (p.Phe2407Ile) c.8548T>A (p.Phe2850Ile) c.6751T>A (p.Phe2251Ile) | |
6 | g.7585810T>C | CA362695354 | DSP | c.7219T>C (p.Phe2407Leu) c.8548T>C (p.Phe2850Leu) c.6751T>C (p.Phe2251Leu) | gnomAD v4 |
6 | g.7585810T>G | CA362695355 | DSP | c.7219T>G (p.Phe2407Val) c.8548T>G (p.Phe2850Val) c.6751T>G (p.Phe2251Val) | |
6 | g.7585811T>A | CA362695356 | DSP | c.7220T>A (p.Phe2407Tyr) c.8549T>A (p.Phe2850Tyr) c.6752T>A (p.Phe2251Tyr) | |
6 | g.7585811T>C | CA362695357 | DSP | c.7220T>C (p.Phe2407Ser) c.8549T>C (p.Phe2850Ser) c.6752T>C (p.Phe2251Ser) | |
6 | g.7585811T>G | CA362695358 | DSP | c.7220T>G (p.Phe2407Cys) c.8549T>G (p.Phe2850Cys) c.6752T>G (p.Phe2251Cys) | |
6 | g.7585812T>A | CA362695359 | DSP | c.7221T>A (p.Phe2407Leu) c.8550T>A (p.Phe2850Leu) c.6753T>A (p.Phe2251Leu) | |
6 | g.7585812T>C | CA448531291 | DSP | c.7221T>C (p.Phe2407=) c.8550T>C (p.Phe2850=) c.6753T>C (p.Phe2251=) | |
6 | g.7585812T>G | CA362695360 | DSP | c.7221T>G (p.Phe2407Leu) c.8550T>G (p.Phe2850Leu) c.6753T>G (p.Phe2251Leu) | |
6 | g.7585813G>A | CA362695361 | DSP | c.7222G>A (p.Asp2408Asn) c.8551G>A (p.Asp2851Asn) c.6754G>A (p.Asp2252Asn) | gnomAD v4 |
6 | g.7585813G>C | CA362695362 | DSP | c.7222G>C (p.Asp2408His) c.8551G>C (p.Asp2851His) c.6754G>C (p.Asp2252His) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585813G= | CA1608616050 | DSP | c.7222G= (p.Asp2408=) c.8551G= (p.Asp2851=) c.6754G= (p.Asp2252=) | |
6 | g.7585813G>T | CA362695363 | DSP | c.7222G>T (p.Asp2408Tyr) c.8551G>T (p.Asp2851Tyr) c.6754G>T (p.Asp2252Tyr) | |
6 | g.7585814A= | CA1608616059 | DSP | c.7223A= (p.Asp2408=) c.8552A= (p.Asp2851=) c.6755A= (p.Asp2252=) | |
6 | g.7585814A>C | CA362695366 | DSP | c.7223A>C (p.Asp2408Ala) c.8552A>C (p.Asp2851Ala) c.6755A>C (p.Asp2252Ala) | |
6 | g.7585814A>G | CA362695364 | DSP | c.7223A>G (p.Asp2408Gly) c.8552A>G (p.Asp2851Gly) c.6755A>G (p.Asp2252Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7585814A>T | CA362695365 | DSP | c.7223A>T (p.Asp2408Val) c.8552A>T (p.Asp2851Val) c.6755A>T (p.Asp2252Val) | |
6 | g.7585815C>A | CA362695367 | DSP | c.7224C>A (p.Asp2408Glu) c.8553C>A (p.Asp2851Glu) c.6756C>A (p.Asp2252Glu) | gnomAD v4 |
6 | g.7585815C= | CA1608616062 | DSP | c.7224C= (p.Asp2408=) c.8553C= (p.Asp2851=) c.6756C= (p.Asp2252=) | |
6 | g.7585815C>G | CA362695368 | DSP | c.7224C>G (p.Asp2408Glu) c.8553C>G (p.Asp2851Glu) c.6756C>G (p.Asp2252Glu) | |
6 | g.7585815C>T | CA448531292 | DSP | c.7224C>T (p.Asp2408=) c.8553C>T (p.Asp2851=) c.6756C>T (p.Asp2252=) | ClinVar dbSNP gnomAD v4 |
6 | g.7585816_7585817dup | CA2825001491 | DSP | c.7225_7226dup (p.Thr2410ProfsTer?) c.8554_8555dup (p.Thr2853ProfsTer?) c.6757_6758dup (p.Thr2254ProfsTer?) | ClinVar |
6 | g.7585816G>A | CA362695369 | DSP | c.7225G>A (p.Ala2409Thr) c.8554G>A (p.Ala2852Thr) c.6757G>A (p.Ala2253Thr) | gnomAD v4 COSMIC |
6 | g.7585816G>C | CA362695370 | DSP | c.7225G>C (p.Ala2409Pro) c.8554G>C (p.Ala2852Pro) c.6757G>C (p.Ala2253Pro) | |
6 | g.7585816G>T | CA362695371 | DSP | c.7225G>T (p.Ala2409Ser) c.8554G>T (p.Ala2852Ser) c.6757G>T (p.Ala2253Ser) | |
6 | g.7585817C>A | CA362695372 | DSP | c.7226C>A (p.Ala2409Asp) c.8555C>A (p.Ala2852Asp) c.6758C>A (p.Ala2253Asp) | |
6 | g.7585817C>G | CA362695373 | DSP | c.7226C>G (p.Ala2409Gly) c.8555C>G (p.Ala2852Gly) c.6758C>G (p.Ala2253Gly) | |
6 | g.7585817C>T | CA362695374 | DSP | c.7226C>T (p.Ala2409Val) c.8555C>T (p.Ala2852Val) c.6758C>T (p.Ala2253Val) | |
6 | g.7585818C>A | CA448531293 | DSP | c.7227C>A (p.Ala2409=) c.8556C>A (p.Ala2852=) c.6759C>A (p.Ala2253=) | |
6 | g.7585818C= | CA1608616076 | DSP | c.7227C= (p.Ala2409=) c.8556C= (p.Ala2852=) c.6759C= (p.Ala2253=) | |
6 | g.7585818C>G | CA448531294 | DSP | c.7227C>G (p.Ala2409=) c.8556C>G (p.Ala2852=) c.6759C>G (p.Ala2253=) | |
6 | g.7585818C>T | CA448531295 | DSP | c.7227C>T (p.Ala2409=) c.8556C>T (p.Ala2852=) c.6759C>T (p.Ala2253=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7585819A= | CA1608616080 | DSP | c.7228A= (p.Thr2410=) c.8557A= (p.Thr2853=) c.6760A= (p.Thr2254=) | |
6 | g.7585819A>C | CA133978316 | DSP | c.7228A>C (p.Thr2410Pro) c.8557A>C (p.Thr2853Pro) c.6760A>C (p.Thr2254Pro) | dbSNP |
6 | g.7585819A>G | CA362695375 | DSP | c.7228A>G (p.Thr2410Ala) c.8557A>G (p.Thr2853Ala) c.6760A>G (p.Thr2254Ala) | |
6 | g.7585819A>T | CA362695376 | DSP | c.7228A>T (p.Thr2410Ser) c.8557A>T (p.Thr2853Ser) c.6760A>T (p.Thr2254Ser) | gnomAD v4 |
6 | g.7585820C>A | CA362695379 | DSP | c.7229C>A (p.Thr2410Lys) c.8558C>A (p.Thr2853Lys) c.6761C>A (p.Thr2254Lys) | |
6 | g.7585820C>G | CA362695378 | DSP | c.7229C>G (p.Thr2410Arg) c.8558C>G (p.Thr2853Arg) c.6761C>G (p.Thr2254Arg) | gnomAD v4 |
6 | g.7585820C>T | CA362695377 | DSP | c.7229C>T (p.Thr2410Ile) c.8558C>T (p.Thr2853Ile) c.6761C>T (p.Thr2254Ile) | ClinVar |
6 | g.7585821A= | CA1608616088 | DSP | c.7230A= (p.Thr2410=) c.8559A= (p.Thr2853=) c.6762A= (p.Thr2254=) | |
6 | g.7585821A>C | CA448531296 | DSP | c.7230A>C (p.Thr2410=) c.8559A>C (p.Thr2853=) c.6762A>C (p.Thr2254=) | ClinVar dbSNP gnomAD v4 |
6 | g.7585821A>G | CA448531297 | DSP | c.7230A>G (p.Thr2410=) c.8559A>G (p.Thr2853=) c.6762A>G (p.Thr2254=) | ClinVar dbSNP |
6 | g.7585821A>T | CA448531298 | DSP | c.7230A>T (p.Thr2410=) c.8559A>T (p.Thr2853=) c.6762A>T (p.Thr2254=) | |
6 | g.7585822G>A | CA362695380 | DSP | c.7231G>A (p.Gly2411Arg) c.8560G>A (p.Gly2854Arg) c.6763G>A (p.Gly2255Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585822G>C | CA052774 | DSP | c.7231G>C (p.Gly2411Arg) c.8560G>C (p.Gly2854Arg) c.6763G>C (p.Gly2255Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7585822G= | CA1608616101 | DSP | c.7231G= (p.Gly2411=) c.8560G= (p.Gly2854=) c.6763G= (p.Gly2255=) | |
6 | g.7585822G>T | CA362695381 | DSP | c.7231G>T (p.Gly2411Trp) c.8560G>T (p.Gly2854Trp) c.6763G>T (p.Gly2255Trp) | |
6 | g.7585823G>A | CA133978331 | DSP | c.7232G>A (p.Gly2411Glu) c.8561G>A (p.Gly2854Glu) c.6764G>A (p.Gly2255Glu) | dbSNP |
6 | g.7585823G>C | CA362695382 | DSP | c.7232G>C (p.Gly2411Ala) c.8561G>C (p.Gly2854Ala) c.6764G>C (p.Gly2255Ala) | |
6 | g.7585823G= | CA1608616108 | DSP | c.7232G= (p.Gly2411=) c.8561G= (p.Gly2854=) c.6764G= (p.Gly2255=) | |
6 | g.7585823G>T | CA362695383 | DSP | c.7232G>T (p.Gly2411Val) c.8561G>T (p.Gly2854Val) c.6764G>T (p.Gly2255Val) | |
6 | g.7585824G>A | CA448531299 | DSP | c.7233G>A (p.Gly2411=) c.8562G>A (p.Gly2854=) c.6765G>A (p.Gly2255=) | |
6 | g.7585824G>C | CA448531300 | DSP | c.7233G>C (p.Gly2411=) c.8562G>C (p.Gly2854=) c.6765G>C (p.Gly2255=) | |
6 | g.7585824G>T | CA448531301 | DSP | c.7233G>T (p.Gly2411=) c.8562G>T (p.Gly2854=) c.6765G>T (p.Gly2255=) | |
6 | g.7585825A>C | CA362695384 | DSP | c.7234A>C (p.Asn2412His) c.8563A>C (p.Asn2855His) c.6766A>C (p.Asn2256His) | |
6 | g.7585825A>G | CA362695385 | DSP | c.7234A>G (p.Asn2412Asp) c.8563A>G (p.Asn2855Asp) c.6766A>G (p.Asn2256Asp) | gnomAD v4 |
6 | g.7585825A>T | CA362695386 | DSP | c.7234A>T (p.Asn2412Tyr) c.8563A>T (p.Asn2855Tyr) c.6766A>T (p.Asn2256Tyr) | |
6 | g.7585826A= | CA1608616114 | DSP | c.7235A= (p.Asn2412=) c.8564A= (p.Asn2855=) c.6767A= (p.Asn2256=) | |
6 | g.7585826A>C | CA362695388 | DSP | c.7235A>C (p.Asn2412Thr) c.8564A>C (p.Asn2855Thr) c.6767A>C (p.Asn2256Thr) | |
6 | g.7585826A>G | CA362695387 | DSP | c.7235A>G (p.Asn2412Ser) c.8564A>G (p.Asn2855Ser) c.6767A>G (p.Asn2256Ser) | |
6 | g.7585826A>T | CA052787 | DSP | c.7235A>T (p.Asn2412Ile) c.8564A>T (p.Asn2855Ile) c.6767A>T (p.Asn2256Ile) | dbSNP ExAC gnomAD v2 |