Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47337433_47337445delinsCGCC | CA2695212750 | MYBPC3 | c.2548_2560delinsGGCG (p.Asn850_Met854delinsGlyVal) c.*53_*65delinsGGCG (n.*53_*65delinsGGCG) c.2530_2542delinsGGCG (p.Asn844_Met848delinsGlyVal) c.2467_2479delinsGGCG (p.Asn823_Met827delinsGlyVal) | |
11 | g.47337440_47337448dup | CA2613400913 | MYBPC3 | c.2545_2553dup (p.Ala851_Ile852insValAsnAla) c.*50_*58dup (n.*50_*58dup) c.2527_2535dup (p.Ala845_Ile846insValAsnAla) c.2464_2472dup (p.Ala824_Ile825insValAsnAla) | gnomAD v4 |
11 | g.47337445_47337453dup | CA2739270431 | MYBPC3 | c.2544_2552dup (p.Ala851_Ile852insValAsnAla) c.*49_*57dup (n.*49_*57dup) c.2526_2534dup (p.Ala845_Ile846insValAsnAla) c.2463_2471dup (p.Ala824_Ile825insValAsnAla) | ClinVar |
11 | g.47337444_47337446del | CA2697548559 | MYBPC3 | c.2548_2550del (p.Asn850del) c.*53_*55del (n.*53_*55del) c.2530_2532del (p.Asn844del) c.2467_2469del (p.Asn823del) | ClinVar |
11 | g.47337443_47337448delinsATGA | CA2580084284 | MYBPC3 | c.2545_2550delinsTCAT (p.Val849SerfsTer?) c.*50_*55delinsTCAT (n.*50_*55delinsTCAT) c.2527_2532delinsTCAT (p.Val843SerfsTer?) c.2464_2469delinsTCAT (p.Val822SerfsTer?) | ClinVar |
11 | g.47337444T>A | CA012604 | MYBPC3 | c.2549A>T (p.Asn850Ile) c.*54A>T (n.*54A>T) c.2531A>T (p.Asn844Ile) c.2468A>T (p.Asn823Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47337444T>C | CA380318150 | MYBPC3 | c.2549A>G (p.Asn850Ser) c.*54A>G (n.*54A>G) c.2531A>G (p.Asn844Ser) c.2468A>G (p.Asn823Ser) | gnomAD v4 |
11 | g.47337444T>G | CA380318151 | MYBPC3 | c.2549A>C (p.Asn850Thr) c.*54A>C (n.*54A>C) c.2531A>C (p.Asn844Thr) c.2468A>C (p.Asn823Thr) | |
11 | g.47337444T= | CA1969339874 | MYBPC3 | c.2549A= (p.Asn850=) c.*54A= (n.*54A=) c.2531A= (p.Asn844=) c.2468A= (p.Asn823=) | |
11 | g.47337445T>A | CA380318152 | MYBPC3 | c.2548A>T (p.Asn850Tyr) c.*53A>T (n.*53A>T) c.2530A>T (p.Asn844Tyr) c.2467A>T (p.Asn823Tyr) | |
11 | g.47337445T>C | CA380318153 | MYBPC3 | c.2548A>G (p.Asn850Asp) c.*53A>G (n.*53A>G) c.2530A>G (p.Asn844Asp) c.2467A>G (p.Asn823Asp) | |
11 | g.47337445T>G | CA380318154 | MYBPC3 | c.2548A>C (p.Asn850His) c.*53A>C (n.*53A>C) c.2530A>C (p.Asn844His) c.2467A>C (p.Asn823His) | ClinVar dbSNP |
11 | g.47337446del | CA2613400957 | MYBPC3 | c.2547del (p.Asn850ThrfsTer29) c.*52del (n.*52del) c.2529del (p.Asn844ThrfsTer29) c.2466del (p.Asn823ThrfsTer29) | gnomAD v4 |
11 | g.47337446G>A | CA012598 | MYBPC3 | c.2547C>T (p.Val849=) c.*52C>T (n.*52C>T) c.2529C>T (p.Val843=) c.2466C>T (p.Val822=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337446G>C | CA474429559 | MYBPC3 | c.2547C>G (p.Val849=) c.*52C>G (n.*52C>G) c.2529C>G (p.Val843=) c.2466C>G (p.Val822=) | |
11 | g.47337446G= | CA1969339878 | MYBPC3 | c.2547C= (p.Val849=) c.*52C= (n.*52C=) c.2529C= (p.Val843=) c.2466C= (p.Val822=) | |
11 | g.47337446G>T | CA474429558 | MYBPC3 | c.2547C>A (p.Val849=) c.*52C>A (n.*52C>A) c.2529C>A (p.Val843=) c.2466C>A (p.Val822=) | |
11 | g.47337446_47337447delinsAC | CA891842472 | MYBPC3 | c.2546_2547delinsGT (p.Val849Gly) c.*51_*52delinsGT (n.*51_*52delinsGT) c.2528_2529delinsGT (p.Val843Gly) c.2465_2466delinsGT (p.Val822Gly) | ClinVar dbSNP |
11 | g.47337446_47337447delinsGA | CA1969339879 | MYBPC3 | c.2546_2547delinsTC (p.Val849=) c.*51_*52delinsTC (n.*51_*52delinsTC) c.2528_2529delinsTC (p.Val843=) c.2465_2466delinsTC (p.Val822=) | |
11 | g.47337447_47337450del | CA2613400963 | MYBPC3 | c.2544_2547del (p.Val849ThrfsTer29) c.*49_*52del (n.*49_*52del) c.2526_2529del (p.Val843ThrfsTer29) c.2463_2466del (p.Val822ThrfsTer29) | gnomAD v4 |
11 | g.47337446_47337453delinsA | CA915940853 | MYBPC3 | c.2540_2547delinsT (p.Tyr847LeufsTer30) c.*45_*52delinsT (n.*45_*52delinsT) c.2522_2529delinsT (p.Tyr841LeufsTer30) c.2459_2466delinsT (p.Tyr820LeufsTer30) | |
11 | g.47337447A= | CA1969339881 | MYBPC3 | c.2546T= (p.Val849=) c.*51T= (n.*51T=) c.2528T= (p.Val843=) c.2465T= (p.Val822=) | |
11 | g.47337447A>C | CA380318155 | MYBPC3 | c.2546T>G (p.Val849Gly) c.*51T>G (n.*51T>G) c.2528T>G (p.Val843Gly) c.2465T>G (p.Val822Gly) | |
11 | g.47337447A>G | CA078803 | MYBPC3 | c.2546T>C (p.Val849Ala) c.*51T>C (n.*51T>C) c.2528T>C (p.Val843Ala) c.2465T>C (p.Val822Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47337447A>T | CA380318156 | MYBPC3 | c.2546T>A (p.Val849Asp) c.*51T>A (n.*51T>A) c.2528T>A (p.Val843Asp) c.2465T>A (p.Val822Asp) | |
11 | g.47337448C>A | CA380318157 | MYBPC3 | c.2545G>T (p.Val849Phe) c.*50G>T (n.*50G>T) c.2527G>T (p.Val843Phe) c.2464G>T (p.Val822Phe) | |
11 | g.47337448C= | CA1969339883 | MYBPC3 | c.2545G= (p.Val849=) c.*50G= (n.*50G=) c.2527G= (p.Val843=) c.2464G= (p.Val822=) | |
11 | g.47337448C>G | CA380318158 | MYBPC3 | c.2545G>C (p.Val849Leu) c.*50G>C (n.*50G>C) c.2527G>C (p.Val843Leu) c.2464G>C (p.Val822Leu) | ClinVar dbSNP |
11 | g.47337448C>T | CA380318159 | MYBPC3 | c.2545G>A (p.Val849Ile) c.*50G>A (n.*50G>A) c.2527G>A (p.Val843Ile) c.2464G>A (p.Val822Ile) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47337449del | CA2695212753 | MYBPC3 | c.2545del (p.Val849SerfsTer30) c.*50del (n.*50del) c.2527del (p.Val843SerfsTer30) c.2464del (p.Val822SerfsTer30) | |
11 | g.47337449C>A | CA474429560 | MYBPC3 | c.2544G>T (p.Ala848=) c.*49G>T (n.*49G>T) c.2526G>T (p.Ala842=) c.2463G>T (p.Ala821=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47337449C= | CA1969339885 | MYBPC3 | c.2544G= (p.Ala848=) c.*49G= (n.*49G=) c.2526G= (p.Ala842=) c.2463G= (p.Ala821=) | |
11 | g.47337449C>G | CA474429561 | MYBPC3 | c.2544G>C (p.Ala848=) c.*49G>C (n.*49G>C) c.2526G>C (p.Ala842=) c.2463G>C (p.Ala821=) | |
11 | g.47337449C>T | CA012593 | MYBPC3 | c.2544G>A (p.Ala848=) c.*49G>A (n.*49G>A) c.2526G>A (p.Ala842=) c.2463G>A (p.Ala821=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.47337449_47337450delinsCG | CA1969339887 | MYBPC3 | c.2543_2544delinsCG (p.Ala848=) c.*48_*49delinsCG (n.*48_*49delinsCG) c.2525_2526delinsCG (p.Ala842=) c.2462_2463delinsCG (p.Ala821=) | |
11 | g.47337451_47337452dup | CA913190269 | MYBPC3 | c.2543_2544dup (p.Val849ArgfsTer?) c.*48_*49dup (n.*48_*49dup) c.2525_2526dup (p.Val843ArgfsTer?) c.2462_2463dup (p.Val822ArgfsTer?) | ClinVar dbSNP |
11 | g.47337451_47337452del | CA2695212754 | MYBPC3 | c.2543_2544del (p.Ala848GlyfsTer?) c.*48_*49del (n.*48_*49del) c.2525_2526del (p.Ala842GlyfsTer?) c.2462_2463del (p.Ala821GlyfsTer?) | |
11 | g.47337450del | CA012582 | MYBPC3 | c.2543del (p.Ala848GlyfsTer?) c.*48del (n.*48del) c.2525del (p.Ala842GlyfsTer?) c.2462del (p.Ala821GlyfsTer?) | ClinVar dbSNP |
11 | g.47337450G>A | CA078799 | MYBPC3 | c.2543C>T (p.Ala848Val) c.*48C>T (n.*48C>T) c.2525C>T (p.Ala842Val) c.2462C>T (p.Ala821Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47337450G>C | CA012577 | MYBPC3 | c.2543C>G (p.Ala848Gly) c.*48C>G (n.*48C>G) c.2525C>G (p.Ala842Gly) c.2462C>G (p.Ala821Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47337450G= | CA1969339890 | MYBPC3 | c.2543C= (p.Ala848=) c.*48C= (n.*48C=) c.2525C= (p.Ala842=) c.2462C= (p.Ala821=) | |
11 | g.47337450G>T | CA349345 | MYBPC3 | c.2543C>A (p.Ala848Glu) c.*48C>A (n.*48C>A) c.2525C>A (p.Ala842Glu) c.2462C>A (p.Ala821Glu) | ClinVar dbSNP |
11 | g.47337450_47337451delinsCA | CA2573053508 | MYBPC3 | c.2542_2543delinsTG (p.Ala848Trp) c.*47_*48delinsTG (n.*47_*48delinsTG) c.2524_2525delinsTG (p.Ala842Trp) c.2461_2462delinsTG (p.Ala821Trp) | ClinVar dbSNP |
11 | g.47337451del | CA2695212755 | MYBPC3 | c.2542del (p.Ala848ArgfsTer?) c.*47del (n.*47del) c.2524del (p.Ala842ArgfsTer?) c.2461del (p.Ala821ArgfsTer?) | ClinVar |
11 | g.47337451C>A | CA380318161 | MYBPC3 | c.2542G>T (p.Ala848Ser) c.*47G>T (n.*47G>T) c.2524G>T (p.Ala842Ser) c.2461G>T (p.Ala821Ser) | ClinVar |
11 | g.47337451C= | CA1969339893 | MYBPC3 | c.2542G= (p.Ala848=) c.*47G= (n.*47G=) c.2524G= (p.Ala842=) c.2461G= (p.Ala821=) | |
11 | g.47337451C>G | CA380318160 | MYBPC3 | c.2542G>C (p.Ala848Pro) c.*47G>C (n.*47G>C) c.2524G>C (p.Ala842Pro) c.2461G>C (p.Ala821Pro) | ClinVar dbSNP |
11 | g.47337451C>T | CA078797 | MYBPC3 | c.2542G>A (p.Ala848Thr) c.*47G>A (n.*47G>A) c.2524G>A (p.Ala842Thr) c.2461G>A (p.Ala821Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47337452G>A | CA474429306 | MYBPC3 | c.2541C>T (p.Tyr847=) c.*46C>T (n.*46C>T) c.2523C>T (p.Tyr841=) c.2460C>T (p.Tyr820=) | ClinVar dbSNP gnomAD v4 |
11 | g.47337452G>C | CA012567 | MYBPC3 | c.2541C>G (p.Tyr847Ter) c.*46C>G (n.*46C>G) c.2523C>G (p.Tyr841Ter) c.2460C>G (p.Tyr820Ter) | ClinVar dbSNP gnomAD v4 |