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.178784105C>A | CA349494978 | TTN | c.2740G>T (p.Glu914Ter) c.2602G>T (p.Glu868Ter) c.2788G>T (p.Glu930Ter) c.2647G>T (p.Glu883Ter) c.2785G>T (p.Glu929Ter) c.2743G>T (p.Glu915Ter) | |
| 2 | g.178784105C>G | CA349494981 | TTN | c.2740G>C (p.Glu914Gln) c.2602G>C (p.Glu868Gln) c.2788G>C (p.Glu930Gln) c.2647G>C (p.Glu883Gln) c.2785G>C (p.Glu929Gln) c.2743G>C (p.Glu915Gln) | |
| 2 | g.178784105C>T | CA349494983 | TTN | c.2740G>A (p.Glu914Lys) c.2602G>A (p.Glu868Lys) c.2788G>A (p.Glu930Lys) c.2647G>A (p.Glu883Lys) c.2785G>A (p.Glu929Lys) c.2743G>A (p.Glu915Lys) | |
| 2 | g.178784106T>A | CA349494990 | TTN | c.2739A>T (p.Glu913Asp) c.2601A>T (p.Glu867Asp) c.2787A>T (p.Glu929Asp) c.2646A>T (p.Glu882Asp) c.2784A>T (p.Glu928Asp) c.2742A>T (p.Glu914Asp) | |
| 2 | g.178784106T>C | CA430111747 | TTN | c.2739A>G (p.Glu913=) c.2601A>G (p.Glu867=) c.2787A>G (p.Glu929=) c.2646A>G (p.Glu882=) c.2784A>G (p.Glu928=) c.2742A>G (p.Glu914=) | gnomAD v4 |
| 2 | g.178784106T>G | CA349494987 | TTN | c.2739A>C (p.Glu913Asp) c.2601A>C (p.Glu867Asp) c.2787A>C (p.Glu929Asp) c.2646A>C (p.Glu882Asp) c.2784A>C (p.Glu928Asp) c.2742A>C (p.Glu914Asp) | |
| 2 | g.178784107T>A | CA349494995 | TTN | c.2738A>T (p.Glu913Val) c.2600A>T (p.Glu867Val) c.2786A>T (p.Glu929Val) c.2645A>T (p.Glu882Val) c.2783A>T (p.Glu928Val) c.2741A>T (p.Glu914Val) | |
| 2 | g.178784107T>C | CA349495000 | TTN | c.2738A>G (p.Glu913Gly) c.2600A>G (p.Glu867Gly) c.2786A>G (p.Glu929Gly) c.2645A>G (p.Glu882Gly) c.2783A>G (p.Glu928Gly) c.2741A>G (p.Glu914Gly) | |
| 2 | g.178784107T>G | CA349495002 | TTN | c.2738A>C (p.Glu913Ala) c.2600A>C (p.Glu867Ala) c.2786A>C (p.Glu929Ala) c.2645A>C (p.Glu882Ala) c.2783A>C (p.Glu928Ala) c.2741A>C (p.Glu914Ala) | |
| 2 | g.178784108C>A | CA349495004 | TTN | c.2737G>T (p.Glu913Ter) c.2599G>T (p.Glu867Ter) c.2785G>T (p.Glu929Ter) c.2644G>T (p.Glu882Ter) c.2782G>T (p.Glu928Ter) c.2740G>T (p.Glu914Ter) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178784108C= | CA1310620808 | TTN | c.2737G= (p.Glu913=) c.2599G= (p.Glu867=) c.2785G= (p.Glu929=) c.2644G= (p.Glu882=) c.2782G= (p.Glu928=) c.2740G= (p.Glu914=) | |
| 2 | g.178784108C>G | CA349495006 | TTN | c.2737G>C (p.Glu913Gln) c.2599G>C (p.Glu867Gln) c.2785G>C (p.Glu929Gln) c.2644G>C (p.Glu882Gln) c.2782G>C (p.Glu928Gln) c.2740G>C (p.Glu914Gln) | |
| 2 | g.178784108C>T | CA60982429 | TTN | c.2737G>A (p.Glu913Lys) c.2599G>A (p.Glu867Lys) c.2785G>A (p.Glu929Lys) c.2644G>A (p.Glu882Lys) c.2782G>A (p.Glu928Lys) c.2740G>A (p.Glu914Lys) | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178784109A= | CA1310620809 | TTN | c.2736T= (p.Arg912=) c.2598T= (p.Arg866=) c.2784T= (p.Arg928=) c.2643T= (p.Arg881=) c.2781T= (p.Arg927=) c.2739T= (p.Arg913=) | |
| 2 | g.178784109A>C | CA430111753 | TTN | c.2736T>G (p.Arg912=) c.2598T>G (p.Arg866=) c.2784T>G (p.Arg928=) c.2643T>G (p.Arg881=) c.2781T>G (p.Arg927=) c.2739T>G (p.Arg913=) | |
| 2 | g.178784109A>G | CA430111752 | TTN | c.2736T>C (p.Arg912=) c.2598T>C (p.Arg866=) c.2784T>C (p.Arg928=) c.2643T>C (p.Arg881=) c.2781T>C (p.Arg927=) c.2739T>C (p.Arg913=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178784109A>T | CA430111751 | TTN | c.2736T>A (p.Arg912=) c.2598T>A (p.Arg866=) c.2784T>A (p.Arg928=) c.2643T>A (p.Arg881=) c.2781T>A (p.Arg927=) c.2739T>A (p.Arg913=) | |
| 2 | g.178784110C>A | CA349495010 | TTN | c.2735G>T (p.Arg912Leu) c.2597G>T (p.Arg866Leu) c.2783G>T (p.Arg928Leu) c.2642G>T (p.Arg881Leu) c.2780G>T (p.Arg927Leu) c.2738G>T (p.Arg913Leu) | ClinVar |
| 2 | g.178784110C= | CA1310620810 | TTN | c.2735G= (p.Arg912=) c.2597G= (p.Arg866=) c.2783G= (p.Arg928=) c.2642G= (p.Arg881=) c.2780G= (p.Arg927=) c.2738G= (p.Arg913=) | |
| 2 | g.178784110C>G | CA349495015 | TTN | c.2735G>C (p.Arg912Pro) c.2597G>C (p.Arg866Pro) c.2783G>C (p.Arg928Pro) c.2642G>C (p.Arg881Pro) c.2780G>C (p.Arg927Pro) c.2738G>C (p.Arg913Pro) | gnomAD v4 |
| 2 | g.178784110C>T | CA2005749 | TTN | c.2735G>A (p.Arg912His) c.2597G>A (p.Arg866His) c.2783G>A (p.Arg928His) c.2642G>A (p.Arg881His) c.2780G>A (p.Arg927His) c.2738G>A (p.Arg913His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178784111G>A | CA310526 | TTN | c.2734C>T (p.Arg912Cys) c.2596C>T (p.Arg866Cys) c.2782C>T (p.Arg928Cys) c.2641C>T (p.Arg881Cys) c.2779C>T (p.Arg927Cys) c.2737C>T (p.Arg913Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178784111G>C | CA349495022 | TTN | c.2734C>G (p.Arg912Gly) c.2596C>G (p.Arg866Gly) c.2782C>G (p.Arg928Gly) c.2641C>G (p.Arg881Gly) c.2779C>G (p.Arg927Gly) c.2737C>G (p.Arg913Gly) | |
| 2 | g.178784111G= | CA1310620811 | TTN | c.2734C= (p.Arg912=) c.2596C= (p.Arg866=) c.2782C= (p.Arg928=) c.2641C= (p.Arg881=) c.2779C= (p.Arg927=) c.2737C= (p.Arg913=) | |
| 2 | g.178784111G>T | CA349495025 | TTN | c.2734C>A (p.Arg912Ser) c.2596C>A (p.Arg866Ser) c.2782C>A (p.Arg928Ser) c.2641C>A (p.Arg881Ser) c.2779C>A (p.Arg927Ser) c.2737C>A (p.Arg913Ser) | dbSNP gnomAD v2 |
| 2 | g.178784112G>A | CA430111757 | TTN | c.2733C>T (p.Val911=) c.2595C>T (p.Val865=) c.2781C>T (p.Val927=) c.2640C>T (p.Val880=) c.2778C>T (p.Val926=) c.2736C>T (p.Val912=) | ClinVar dbSNP |
| 2 | g.178784112G>C | CA430111758 | TTN | c.2733C>G (p.Val911=) c.2595C>G (p.Val865=) c.2781C>G (p.Val927=) c.2640C>G (p.Val880=) c.2778C>G (p.Val926=) c.2736C>G (p.Val912=) | |
| 2 | g.178784112G= | CA1310620812 | TTN | c.2733C= (p.Val911=) c.2595C= (p.Val865=) c.2781C= (p.Val927=) c.2640C= (p.Val880=) c.2778C= (p.Val926=) c.2736C= (p.Val912=) | |
| 2 | g.178784112G>T | CA430111759 | TTN | c.2733C>A (p.Val911=) c.2595C>A (p.Val865=) c.2781C>A (p.Val927=) c.2640C>A (p.Val880=) c.2778C>A (p.Val926=) c.2736C>A (p.Val912=) | dbSNP |
| 2 | g.178784113A>C | CA349495032 | TTN | c.2732T>G (p.Val911Gly) c.2594T>G (p.Val865Gly) c.2780T>G (p.Val927Gly) c.2639T>G (p.Val880Gly) c.2777T>G (p.Val926Gly) c.2735T>G (p.Val912Gly) | |
| 2 | g.178784113A>G | CA349495036 | TTN | c.2732T>C (p.Val911Ala) c.2594T>C (p.Val865Ala) c.2780T>C (p.Val927Ala) c.2639T>C (p.Val880Ala) c.2777T>C (p.Val926Ala) c.2735T>C (p.Val912Ala) | |
| 2 | g.178784113A>T | CA349495029 | TTN | c.2732T>A (p.Val911Asp) c.2594T>A (p.Val865Asp) c.2780T>A (p.Val927Asp) c.2639T>A (p.Val880Asp) c.2777T>A (p.Val926Asp) c.2735T>A (p.Val912Asp) | |
| 2 | g.178784114C>A | CA349495043 | TTN | c.2731G>T (p.Val911Phe) c.2593G>T (p.Val865Phe) c.2779G>T (p.Val927Phe) c.2638G>T (p.Val880Phe) c.2776G>T (p.Val926Phe) c.2734G>T (p.Val912Phe) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178784114C= | CA1310620813 | TTN | c.2731G= (p.Val911=) c.2593G= (p.Val865=) c.2779G= (p.Val927=) c.2638G= (p.Val880=) c.2776G= (p.Val926=) c.2734G= (p.Val912=) | |
| 2 | g.178784114C>G | CA349495046 | TTN | c.2731G>C (p.Val911Leu) c.2593G>C (p.Val865Leu) c.2779G>C (p.Val927Leu) c.2638G>C (p.Val880Leu) c.2776G>C (p.Val926Leu) c.2734G>C (p.Val912Leu) | |
| 2 | g.178784114C>T | CA139343 | TTN | c.2731G>A (p.Val911Ile) c.2593G>A (p.Val865Ile) c.2779G>A (p.Val927Ile) c.2638G>A (p.Val880Ile) c.2776G>A (p.Val926Ile) c.2734G>A (p.Val912Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178784115G>A | CA2005750 | TTN | c.2730C>T (p.Thr910=) c.2592C>T (p.Thr864=) c.2778C>T (p.Thr926=) c.2637C>T (p.Thr879=) c.2775C>T (p.Thr925=) c.2733C>T (p.Thr911=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178784115G>C | CA430111761 | TTN | c.2730C>G (p.Thr910=) c.2592C>G (p.Thr864=) c.2778C>G (p.Thr926=) c.2637C>G (p.Thr879=) c.2775C>G (p.Thr925=) c.2733C>G (p.Thr911=) | gnomAD v4 |
| 2 | g.178784115G= | CA1310620814 | TTN | c.2730C= (p.Thr910=) c.2592C= (p.Thr864=) c.2778C= (p.Thr926=) c.2637C= (p.Thr879=) c.2775C= (p.Thr925=) c.2733C= (p.Thr911=) | |
| 2 | g.178784115G>T | CA430111763 | TTN | c.2730C>A (p.Thr910=) c.2592C>A (p.Thr864=) c.2778C>A (p.Thr926=) c.2637C>A (p.Thr879=) c.2775C>A (p.Thr925=) c.2733C>A (p.Thr911=) | |
| 2 | g.178784116G>A | CA2005751 | TTN | c.2729C>T (p.Thr910Ile) c.2591C>T (p.Thr864Ile) c.2777C>T (p.Thr926Ile) c.2636C>T (p.Thr879Ile) c.2774C>T (p.Thr925Ile) c.2732C>T (p.Thr911Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178784116G>C | CA349495062 | TTN | c.2729C>G (p.Thr910Ser) c.2591C>G (p.Thr864Ser) c.2777C>G (p.Thr926Ser) c.2636C>G (p.Thr879Ser) c.2774C>G (p.Thr925Ser) c.2732C>G (p.Thr911Ser) | |
| 2 | g.178784116G= | CA1310620815 | TTN | c.2729C= (p.Thr910=) c.2591C= (p.Thr864=) c.2777C= (p.Thr926=) c.2636C= (p.Thr879=) c.2774C= (p.Thr925=) c.2732C= (p.Thr911=) | |
| 2 | g.178784116G>T | CA349495074 | TTN | c.2729C>A (p.Thr910Asn) c.2591C>A (p.Thr864Asn) c.2777C>A (p.Thr926Asn) c.2636C>A (p.Thr879Asn) c.2774C>A (p.Thr925Asn) c.2732C>A (p.Thr911Asn) | |
| 2 | g.178784117T>A | CA349495079 | TTN | c.2728A>T (p.Thr910Ser) c.2590A>T (p.Thr864Ser) c.2776A>T (p.Thr926Ser) c.2635A>T (p.Thr879Ser) c.2773A>T (p.Thr925Ser) c.2731A>T (p.Thr911Ser) | gnomAD v4 |
| 2 | g.178784117T>C | CA349495081 | TTN | c.2728A>G (p.Thr910Ala) c.2590A>G (p.Thr864Ala) c.2776A>G (p.Thr926Ala) c.2635A>G (p.Thr879Ala) c.2773A>G (p.Thr925Ala) c.2731A>G (p.Thr911Ala) | gnomAD v4 |
| 2 | g.178784117T>G | CA349495084 | TTN | c.2728A>C (p.Thr910Pro) c.2590A>C (p.Thr864Pro) c.2776A>C (p.Thr926Pro) c.2635A>C (p.Thr879Pro) c.2773A>C (p.Thr925Pro) c.2731A>C (p.Thr911Pro) | |
| 2 | g.178784118G>A | CA430111765 | TTN | c.2727C>T (p.Thr909=) c.2589C>T (p.Thr863=) c.2775C>T (p.Thr925=) c.2634C>T (p.Thr878=) c.2772C>T (p.Thr924=) c.2730C>T (p.Thr910=) | |
| 2 | g.178784118G>C | CA430111766 | TTN | c.2727C>G (p.Thr909=) c.2589C>G (p.Thr863=) c.2775C>G (p.Thr925=) c.2634C>G (p.Thr878=) c.2772C>G (p.Thr924=) c.2730C>G (p.Thr910=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178784118G= | CA1310620816 | TTN | c.2727C= (p.Thr909=) c.2589C= (p.Thr863=) c.2775C= (p.Thr925=) c.2634C= (p.Thr878=) c.2772C= (p.Thr924=) c.2730C= (p.Thr910=) |