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 |
|---|---|---|---|---|---|
| 1 | g.102989563_102989571del | CA2573051324 | COL11A1 | c.2344_2352del (p.Glu782_Gly784del) c.2227_2235del (p.Glu743_Gly745del) c.2380_2388del (p.Glu794_Gly796del) c.1996_2004del (p.Glu666_Gly668del) c.1662_1670del c.577_585del (p.Glu193_Gly195del) c.-85_-77del (n.-85_-77del) n.2742_2750del n.2662_2670del c.2497_2505del (p.Glu833_Gly835del) c.2491_2499del (p.Glu831_Gly833del) c.895_903del (p.Glu299_Gly301del) n.2688_2696del | ClinVar dbSNP |
| 1 | g.102989562C>A | CA341167159 | COL11A1 | c.2350G>T (p.Gly784Cys) c.2233G>T (p.Gly745Cys) c.2386G>T (p.Gly796Cys) c.2002G>T (p.Gly668Cys) c.1668G>T c.583G>T (p.Gly195Cys) c.-79G>T (n.-79G>T) n.2748G>T n.2668G>T c.2503G>T (p.Gly835Cys) c.2497G>T (p.Gly833Cys) c.901G>T (p.Gly301Cys) n.2694G>T | |
| 1 | g.102989562C= | CA1144228916 | COL11A1 | c.2350G= (p.Gly784=) c.2233G= (p.Gly745=) c.2386G= (p.Gly796=) c.2002G= (p.Gly668=) c.1668G= c.583G= (p.Gly195=) c.-79G= (n.-79G=) n.2748G= n.2668G= c.2503G= (p.Gly835=) c.2497G= (p.Gly833=) c.901G= (p.Gly301=) n.2694G= | |
| 1 | g.102989562C>G | CA128539 | COL11A1 | c.2350G>C (p.Gly784Arg) c.2233G>C (p.Gly745Arg) c.2386G>C (p.Gly796Arg) c.2002G>C (p.Gly668Arg) c.1668G>C c.583G>C (p.Gly195Arg) c.-79G>C (n.-79G>C) n.2748G>C n.2668G>C c.2503G>C (p.Gly835Arg) c.2497G>C (p.Gly833Arg) c.901G>C (p.Gly301Arg) n.2694G>C | ClinVar dbSNP |
| 1 | g.102989562C>T | CA341167162 | COL11A1 | c.2350G>A (p.Gly784Ser) c.2233G>A (p.Gly745Ser) c.2386G>A (p.Gly796Ser) c.2002G>A (p.Gly668Ser) c.1668G>A c.583G>A (p.Gly195Ser) c.-79G>A (n.-79G>A) n.2748G>A n.2668G>A c.2503G>A (p.Gly835Ser) c.2497G>A (p.Gly833Ser) c.901G>A (p.Gly301Ser) n.2694G>A | |
| 1 | g.102989563A= | CA1185276618 | COL11A1 | c.2349T= (p.Asp783=) c.2232T= (p.Asp744=) c.2385T= (p.Asp795=) c.2001T= (p.Asp667=) c.1667T= c.582T= (p.Asp194=) c.-80T= (n.-80T=) n.2747T= n.2667T= c.2502T= (p.Asp834=) c.2496T= (p.Asp832=) c.900T= (p.Asp300=) n.2693T= | |
| 1 | g.102989563A>C | CA341167164 | COL11A1 | c.2349T>G (p.Asp783Glu) c.2232T>G (p.Asp744Glu) c.2385T>G (p.Asp795Glu) c.2001T>G (p.Asp667Glu) c.1667T>G c.582T>G (p.Asp194Glu) c.-80T>G (n.-80T>G) n.2747T>G n.2667T>G c.2502T>G (p.Asp834Glu) c.2496T>G (p.Asp832Glu) c.900T>G (p.Asp300Glu) n.2693T>G | |
| 1 | g.102989563A>G | CA974458 | COL11A1 | c.2349T>C (p.Asp783=) c.2232T>C (p.Asp744=) c.2385T>C (p.Asp795=) c.2001T>C (p.Asp667=) c.1667T>C c.582T>C (p.Asp194=) c.-80T>C (n.-80T>C) n.2747T>C n.2667T>C c.2502T>C (p.Asp834=) c.2496T>C (p.Asp832=) c.900T>C (p.Asp300=) n.2693T>C | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.102989563A>T | CA341167166 | COL11A1 | c.2349T>A (p.Asp783Glu) c.2232T>A (p.Asp744Glu) c.2385T>A (p.Asp795Glu) c.2001T>A (p.Asp667Glu) c.1667T>A c.582T>A (p.Asp194Glu) c.-80T>A (n.-80T>A) n.2747T>A n.2667T>A c.2502T>A (p.Asp834Glu) c.2496T>A (p.Asp832Glu) c.900T>A (p.Asp300Glu) n.2693T>A | gnomAD v4 |
| 1 | g.102989564T>A | CA341167169 | COL11A1 | c.2348A>T (p.Asp783Val) c.2231A>T (p.Asp744Val) c.2384A>T (p.Asp795Val) c.2000A>T (p.Asp667Val) c.1666A>T c.581A>T (p.Asp194Val) c.-81A>T (n.-81A>T) n.2746A>T n.2666A>T c.2501A>T (p.Asp834Val) c.2495A>T (p.Asp832Val) c.899A>T (p.Asp300Val) n.2692A>T | |
| 1 | g.102989564T>C | CA341167170 | COL11A1 | c.2348A>G (p.Asp783Gly) c.2231A>G (p.Asp744Gly) c.2384A>G (p.Asp795Gly) c.2000A>G (p.Asp667Gly) c.1666A>G c.581A>G (p.Asp194Gly) c.-81A>G (n.-81A>G) n.2746A>G n.2666A>G c.2501A>G (p.Asp834Gly) c.2495A>G (p.Asp832Gly) c.899A>G (p.Asp300Gly) n.2692A>G | |
| 1 | g.102989564T>G | CA341167172 | COL11A1 | c.2348A>C (p.Asp783Ala) c.2231A>C (p.Asp744Ala) c.2384A>C (p.Asp795Ala) c.2000A>C (p.Asp667Ala) c.1666A>C c.581A>C (p.Asp194Ala) c.-81A>C (n.-81A>C) n.2746A>C n.2666A>C c.2501A>C (p.Asp834Ala) c.2495A>C (p.Asp832Ala) c.899A>C (p.Asp300Ala) n.2692A>C | |
| 1 | g.102989565C>A | CA341167175 | COL11A1 | c.2347G>T (p.Asp783Tyr) c.2230G>T (p.Asp744Tyr) c.2383G>T (p.Asp795Tyr) c.1999G>T (p.Asp667Tyr) c.1665G>T c.580G>T (p.Asp194Tyr) c.-82G>T (n.-82G>T) n.2745G>T n.2665G>T c.2500G>T (p.Asp834Tyr) c.2494G>T (p.Asp832Tyr) c.898G>T (p.Asp300Tyr) n.2691G>T | |
| 1 | g.102989565C= | CA1185276619 | COL11A1 | c.2347G= (p.Asp783=) c.2230G= (p.Asp744=) c.2383G= (p.Asp795=) c.1999G= (p.Asp667=) c.1665G= c.580G= (p.Asp194=) c.-82G= (n.-82G=) n.2745G= n.2665G= c.2500G= (p.Asp834=) c.2494G= (p.Asp832=) c.898G= (p.Asp300=) n.2691G= | |
| 1 | g.102989565C>G | CA341167177 | COL11A1 | c.2347G>C (p.Asp783His) c.2230G>C (p.Asp744His) c.2383G>C (p.Asp795His) c.1999G>C (p.Asp667His) c.1665G>C c.580G>C (p.Asp194His) c.-82G>C (n.-82G>C) n.2745G>C n.2665G>C c.2500G>C (p.Asp834His) c.2494G>C (p.Asp832His) c.898G>C (p.Asp300His) n.2691G>C | |
| 1 | g.102989565C>T | CA341167179 | COL11A1 | c.2347G>A (p.Asp783Asn) c.2230G>A (p.Asp744Asn) c.2383G>A (p.Asp795Asn) c.1999G>A (p.Asp667Asn) c.1665G>A c.580G>A (p.Asp194Asn) c.-82G>A (n.-82G>A) n.2745G>A n.2665G>A c.2500G>A (p.Asp834Asn) c.2494G>A (p.Asp832Asn) c.898G>A (p.Asp300Asn) n.2691G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.102989566T>A | CA974459 | COL11A1 | c.2346A>T (p.Glu782Asp) c.2229A>T (p.Glu743Asp) c.2382A>T (p.Glu794Asp) c.1998A>T (p.Glu666Asp) c.1664A>T c.579A>T (p.Glu193Asp) c.-83A>T (n.-83A>T) n.2744A>T n.2664A>T c.2499A>T (p.Glu833Asp) c.2493A>T (p.Glu831Asp) c.897A>T (p.Glu299Asp) n.2690A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.102989566T>C | CA419203655 | COL11A1 | c.2346A>G (p.Glu782=) c.2229A>G (p.Glu743=) c.2382A>G (p.Glu794=) c.1998A>G (p.Glu666=) c.1664A>G c.579A>G (p.Glu193=) c.-83A>G (n.-83A>G) n.2744A>G n.2664A>G c.2499A>G (p.Glu833=) c.2493A>G (p.Glu831=) c.897A>G (p.Glu299=) n.2690A>G | gnomAD v4 |
| 1 | g.102989566T>G | CA341167182 | COL11A1 | c.2346A>C (p.Glu782Asp) c.2229A>C (p.Glu743Asp) c.2382A>C (p.Glu794Asp) c.1998A>C (p.Glu666Asp) c.1664A>C c.579A>C (p.Glu193Asp) c.-83A>C (n.-83A>C) n.2744A>C n.2664A>C c.2499A>C (p.Glu833Asp) c.2493A>C (p.Glu831Asp) c.897A>C (p.Glu299Asp) n.2690A>C | |
| 1 | g.102989566T= | CA1185276620 | COL11A1 | c.2346A= (p.Glu782=) c.2229A= (p.Glu743=) c.2382A= (p.Glu794=) c.1998A= (p.Glu666=) c.1664A= c.579A= (p.Glu193=) c.-83A= (n.-83A=) n.2744A= n.2664A= c.2499A= (p.Glu833=) c.2493A= (p.Glu831=) c.897A= (p.Glu299=) n.2690A= | |
| 1 | g.102989567T>A | CA341167185 | COL11A1 | c.2345A>T (p.Glu782Val) c.2228A>T (p.Glu743Val) c.2381A>T (p.Glu794Val) c.1997A>T (p.Glu666Val) c.1663A>T c.578A>T (p.Glu193Val) c.-84A>T (n.-84A>T) n.2743A>T n.2663A>T c.2498A>T (p.Glu833Val) c.2492A>T (p.Glu831Val) c.896A>T (p.Glu299Val) n.2689A>T | |
| 1 | g.102989567T>C | CA27707486 | COL11A1 | c.2345A>G (p.Glu782Gly) c.2228A>G (p.Glu743Gly) c.2381A>G (p.Glu794Gly) c.1997A>G (p.Glu666Gly) c.1663A>G c.578A>G (p.Glu193Gly) c.-84A>G (n.-84A>G) n.2743A>G n.2663A>G c.2498A>G (p.Glu833Gly) c.2492A>G (p.Glu831Gly) c.896A>G (p.Glu299Gly) n.2689A>G | dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.102989567T>G | CA341167186 | COL11A1 | c.2345A>C (p.Glu782Ala) c.2228A>C (p.Glu743Ala) c.2381A>C (p.Glu794Ala) c.1997A>C (p.Glu666Ala) c.1663A>C c.578A>C (p.Glu193Ala) c.-84A>C (n.-84A>C) n.2743A>C n.2663A>C c.2498A>C (p.Glu833Ala) c.2492A>C (p.Glu831Ala) c.896A>C (p.Glu299Ala) n.2689A>C | |
| 1 | g.102989567T= | CA1185276621 | COL11A1 | c.2345A= (p.Glu782=) c.2228A= (p.Glu743=) c.2381A= (p.Glu794=) c.1997A= (p.Glu666=) c.1663A= c.578A= (p.Glu193=) c.-84A= (n.-84A=) n.2743A= n.2663A= c.2498A= (p.Glu833=) c.2492A= (p.Glu831=) c.896A= (p.Glu299=) n.2689A= | |
| 1 | g.102989568C>A | CA341167187 | COL11A1 | c.2344G>T (p.Glu782Ter) c.2227G>T (p.Glu743Ter) c.2380G>T (p.Glu794Ter) c.1996G>T (p.Glu666Ter) c.1662G>T c.577G>T (p.Glu193Ter) c.-85G>T (n.-85G>T) n.2742G>T n.2662G>T c.2497G>T (p.Glu833Ter) c.2491G>T (p.Glu831Ter) c.895G>T (p.Glu299Ter) n.2688G>T | |
| 1 | g.102989568C= | CA1185276622 | COL11A1 | c.2344G= (p.Glu782=) c.2227G= (p.Glu743=) c.2380G= (p.Glu794=) c.1996G= (p.Glu666=) c.1662G= c.577G= (p.Glu193=) c.-85G= (n.-85G=) n.2742G= n.2662G= c.2497G= (p.Glu833=) c.2491G= (p.Glu831=) c.895G= (p.Glu299=) n.2688G= | |
| 1 | g.102989568C>G | CA341167189 | COL11A1 | c.2344G>C (p.Glu782Gln) c.2227G>C (p.Glu743Gln) c.2380G>C (p.Glu794Gln) c.1996G>C (p.Glu666Gln) c.1662G>C c.577G>C (p.Glu193Gln) c.-85G>C (n.-85G>C) n.2742G>C n.2662G>C c.2497G>C (p.Glu833Gln) c.2491G>C (p.Glu831Gln) c.895G>C (p.Glu299Gln) n.2688G>C | |
| 1 | g.102989568C>T | CA341167188 | COL11A1 | c.2344G>A (p.Glu782Lys) c.2227G>A (p.Glu743Lys) c.2380G>A (p.Glu794Lys) c.1996G>A (p.Glu666Lys) c.1662G>A c.577G>A (p.Glu193Lys) c.-85G>A (n.-85G>A) n.2742G>A n.2662G>A c.2497G>A (p.Glu833Lys) c.2491G>A (p.Glu831Lys) c.895G>A (p.Glu299Lys) n.2688G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.102989569A= | CA1185276623 | COL11A1 | c.2343T= (p.Gly781=) c.2226T= (p.Gly742=) c.2379T= (p.Gly793=) c.1995T= (p.Gly665=) c.1661T= c.576T= (p.Gly192=) c.-86T= (n.-86T=) n.2741T= n.2661T= c.2496T= (p.Gly832=) c.2490T= (p.Gly830=) c.894T= (p.Gly298=) n.2687T= | |
| 1 | g.102989569A>C | CA419203665 | COL11A1 | c.2343T>G (p.Gly781=) c.2226T>G (p.Gly742=) c.2379T>G (p.Gly793=) c.1995T>G (p.Gly665=) c.1661T>G c.576T>G (p.Gly192=) c.-86T>G (n.-86T>G) n.2741T>G n.2661T>G c.2496T>G (p.Gly832=) c.2490T>G (p.Gly830=) c.894T>G (p.Gly298=) n.2687T>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.102989569A>G | CA419203667 | COL11A1 | c.2343T>C (p.Gly781=) c.2226T>C (p.Gly742=) c.2379T>C (p.Gly793=) c.1995T>C (p.Gly665=) c.1661T>C c.576T>C (p.Gly192=) c.-86T>C (n.-86T>C) n.2741T>C n.2661T>C c.2496T>C (p.Gly832=) c.2490T>C (p.Gly830=) c.894T>C (p.Gly298=) n.2687T>C | gnomAD v4 |
| 1 | g.102989569A>T | CA419203669 | COL11A1 | c.2343T>A (p.Gly781=) c.2226T>A (p.Gly742=) c.2379T>A (p.Gly793=) c.1995T>A (p.Gly665=) c.1661T>A c.576T>A (p.Gly192=) c.-86T>A (n.-86T>A) n.2741T>A n.2661T>A c.2496T>A (p.Gly832=) c.2490T>A (p.Gly830=) c.894T>A (p.Gly298=) n.2687T>A | |
| 1 | g.102989570C>A | CA341167190 | COL11A1 | c.2342G>T (p.Gly781Val) c.2225G>T (p.Gly742Val) c.2378G>T (p.Gly793Val) c.1994G>T (p.Gly665Val) c.1660G>T c.575G>T (p.Gly192Val) c.-87G>T (n.-87G>T) n.2740G>T n.2660G>T c.2495G>T (p.Gly832Val) c.2489G>T (p.Gly830Val) c.893G>T (p.Gly298Val) n.2686G>T | |
| 1 | g.102989570C>G | CA341167192 | COL11A1 | c.2342G>C (p.Gly781Ala) c.2225G>C (p.Gly742Ala) c.2378G>C (p.Gly793Ala) c.1994G>C (p.Gly665Ala) c.1660G>C c.575G>C (p.Gly192Ala) c.-87G>C (n.-87G>C) n.2740G>C n.2660G>C c.2495G>C (p.Gly832Ala) c.2489G>C (p.Gly830Ala) c.893G>C (p.Gly298Ala) n.2686G>C | |
| 1 | g.102989570C>T | CA341167191 | COL11A1 | c.2342G>A (p.Gly781Asp) c.2225G>A (p.Gly742Asp) c.2378G>A (p.Gly793Asp) c.1994G>A (p.Gly665Asp) c.1660G>A c.575G>A (p.Gly192Asp) c.-87G>A (n.-87G>A) n.2740G>A n.2660G>A c.2495G>A (p.Gly832Asp) c.2489G>A (p.Gly830Asp) c.893G>A (p.Gly298Asp) n.2686G>A | |
| 1 | g.102989571C>A | CA341167193 | COL11A1 | c.2341G>T (p.Gly781Cys) c.2224G>T (p.Gly742Cys) c.2377G>T (p.Gly793Cys) c.1993G>T (p.Gly665Cys) c.1659G>T c.574G>T (p.Gly192Cys) c.-88G>T (n.-88G>T) n.2739G>T n.2659G>T c.2494G>T (p.Gly832Cys) c.2488G>T (p.Gly830Cys) c.892G>T (p.Gly298Cys) n.2685G>T | |
| 1 | g.102989571C>G | CA341167195 | COL11A1 | c.2341G>C (p.Gly781Arg) c.2224G>C (p.Gly742Arg) c.2377G>C (p.Gly793Arg) c.1993G>C (p.Gly665Arg) c.1659G>C c.574G>C (p.Gly192Arg) c.-88G>C (n.-88G>C) n.2739G>C n.2659G>C c.2494G>C (p.Gly832Arg) c.2488G>C (p.Gly830Arg) c.892G>C (p.Gly298Arg) n.2685G>C | |
| 1 | g.102989571C>T | CA341167194 | COL11A1 | c.2341G>A (p.Gly781Ser) c.2224G>A (p.Gly742Ser) c.2377G>A (p.Gly793Ser) c.1993G>A (p.Gly665Ser) c.1659G>A c.574G>A (p.Gly192Ser) c.-88G>A (n.-88G>A) n.2739G>A n.2659G>A c.2494G>A (p.Gly832Ser) c.2488G>A (p.Gly830Ser) c.892G>A (p.Gly298Ser) n.2685G>A | COSMIC COSMIC |
| 1 | g.102989572C>A | CA341167196 | COL11A1 | c.2341-1G>T (n.2341-1G>T) c.2224-1G>T (n.2224-1G>T) c.2377-1G>T (n.2377-1G>T) c.1993-1G>T (n.1993-1G>T) c.1659-1G>T c.574-1G>T (n.574-1G>T) c.-88-1G>T (n.-88-1G>T) n.2739-1G>T n.2659-1G>T c.2494-1G>T (n.2494-1G>T) c.2488-1G>T (n.2488-1G>T) c.892-1G>T (n.892-1G>T) n.2685-1G>T | COSMIC COSMIC |
| 1 | g.102989572C>G | CA341167198 | COL11A1 | c.2341-1G>C (n.2341-1G>C) c.2224-1G>C (n.2224-1G>C) c.2377-1G>C (n.2377-1G>C) c.1993-1G>C (n.1993-1G>C) c.1659-1G>C c.574-1G>C (n.574-1G>C) c.-88-1G>C (n.-88-1G>C) n.2739-1G>C n.2659-1G>C c.2494-1G>C (n.2494-1G>C) c.2488-1G>C (n.2488-1G>C) c.892-1G>C (n.892-1G>C) n.2685-1G>C | |
| 1 | g.102989572C>T | CA341167197 | COL11A1 | c.2341-1G>A (n.2341-1G>A) c.2224-1G>A (n.2224-1G>A) c.2377-1G>A (n.2377-1G>A) c.1993-1G>A (n.1993-1G>A) c.1659-1G>A c.574-1G>A (n.574-1G>A) c.-88-1G>A (n.-88-1G>A) n.2739-1G>A n.2659-1G>A c.2494-1G>A (n.2494-1G>A) c.2488-1G>A (n.2488-1G>A) c.892-1G>A (n.892-1G>A) n.2685-1G>A | |
| 1 | g.102989573T>A | CA341167199 | COL11A1 | c.2341-2A>T (n.2341-2A>T) c.2224-2A>T (n.2224-2A>T) c.2377-2A>T (n.2377-2A>T) c.1993-2A>T (n.1993-2A>T) c.1659-2A>T c.574-2A>T (n.574-2A>T) c.-88-2A>T (n.-88-2A>T) n.2739-2A>T n.2659-2A>T c.2494-2A>T (n.2494-2A>T) c.2488-2A>T (n.2488-2A>T) c.892-2A>T (n.892-2A>T) n.2685-2A>T | |
| 1 | g.102989573T>C | CA341167201 | COL11A1 | c.2341-2A>G (n.2341-2A>G) c.2224-2A>G (n.2224-2A>G) c.2377-2A>G (n.2377-2A>G) c.1993-2A>G (n.1993-2A>G) c.1659-2A>G c.574-2A>G (n.574-2A>G) c.-88-2A>G (n.-88-2A>G) n.2739-2A>G n.2659-2A>G c.2494-2A>G (n.2494-2A>G) c.2488-2A>G (n.2488-2A>G) c.892-2A>G (n.892-2A>G) n.2685-2A>G | |
| 1 | g.102989573T>G | CA341167200 | COL11A1 | c.2341-2A>C (n.2341-2A>C) c.2224-2A>C (n.2224-2A>C) c.2377-2A>C (n.2377-2A>C) c.1993-2A>C (n.1993-2A>C) c.1659-2A>C c.574-2A>C (n.574-2A>C) c.-88-2A>C (n.-88-2A>C) n.2739-2A>C n.2659-2A>C c.2494-2A>C (n.2494-2A>C) c.2488-2A>C (n.2488-2A>C) c.892-2A>C (n.892-2A>C) n.2685-2A>C | |
| 1 | g.102989573_102989579delinsTAAAACA | CA1185276624 | COL11A1 | c.2341-8_2341-2delinsTGTTTTA (n.2341-8_2341-2delinsTGTTTTA) c.2224-8_2224-2delinsTGTTTTA (n.2224-8_2224-2delinsTGTTTTA) c.2377-8_2377-2delinsTGTTTTA (n.2377-8_2377-2delinsTGTTTTA) c.1993-8_1993-2delinsTGTTTTA (n.1993-8_1993-2delinsTGTTTTA) c.1659-8_1659-2delinsTGTTTTA c.574-8_574-2delinsTGTTTTA (n.574-8_574-2delinsTGTTTTA) c.-88-8_-88-2delinsTGTTTTA (n.-88-8_-88-2delinsTGTTTTA) n.2739-8_2739-2delinsTGTTTTA n.2659-8_2659-2delinsTGTTTTA c.2494-8_2494-2delinsTGTTTTA (n.2494-8_2494-2delinsTGTTTTA) c.2488-8_2488-2delinsTGTTTTA (n.2488-8_2488-2delinsTGTTTTA) c.892-8_892-2delinsTGTTTTA (n.892-8_892-2delinsTGTTTTA) n.2685-8_2685-2delinsTGTTTTA | |
| 1 | g.102989578_102989587del | CA2580060760 | COL11A1 | c.2341-11_2341-2del (n.2341-11_2341-2del) c.2224-11_2224-2del (n.2224-11_2224-2del) c.2377-11_2377-2del (n.2377-11_2377-2del) c.1993-11_1993-2del (n.1993-11_1993-2del) c.1659-11_1659-2del c.574-11_574-2del (n.574-11_574-2del) c.-88-11_-88-2del (n.-88-11_-88-2del) n.2739-11_2739-2del n.2659-11_2659-2del c.2494-11_2494-2del (n.2494-11_2494-2del) c.2488-11_2488-2del (n.2488-11_2488-2del) c.892-11_892-2del (n.892-11_892-2del) n.2685-11_2685-2del | ClinVar |
| 1 | g.102989574A= | CA1149149396 | COL11A1 | c.2341-3T= (n.2341-3T=) c.2224-3T= (n.2224-3T=) c.2377-3T= (n.2377-3T=) c.1993-3T= (n.1993-3T=) c.1659-3T= c.574-3T= (n.574-3T=) c.-88-3T= (n.-88-3T=) n.2739-3T= n.2659-3T= c.2494-3T= (n.2494-3T=) c.2488-3T= (n.2488-3T=) c.892-3T= (n.892-3T=) n.2685-3T= | |
| 1 | g.102989574A>G | CA974461 | COL11A1 | c.2341-3T>C (n.2341-3T>C) c.2224-3T>C (n.2224-3T>C) c.2377-3T>C (n.2377-3T>C) c.1993-3T>C (n.1993-3T>C) c.1659-3T>C c.574-3T>C (n.574-3T>C) c.-88-3T>C (n.-88-3T>C) n.2739-3T>C n.2659-3T>C c.2494-3T>C (n.2494-3T>C) c.2488-3T>C (n.2488-3T>C) c.892-3T>C (n.892-3T>C) n.2685-3T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.102989574A>T | CA974462 | COL11A1 | c.2341-3T>A (n.2341-3T>A) c.2224-3T>A (n.2224-3T>A) c.2377-3T>A (n.2377-3T>A) c.1993-3T>A (n.1993-3T>A) c.1659-3T>A c.574-3T>A (n.574-3T>A) c.-88-3T>A (n.-88-3T>A) n.2739-3T>A n.2659-3T>A c.2494-3T>A (n.2494-3T>A) c.2488-3T>A (n.2488-3T>A) c.892-3T>A (n.892-3T>A) n.2685-3T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.102989576_102989577del | CA2696709926 | COL11A1 | c.2341-4_2341-3del (n.2341-4_2341-3del) c.2224-4_2224-3del (n.2224-4_2224-3del) c.2377-4_2377-3del (n.2377-4_2377-3del) c.1993-4_1993-3del (n.1993-4_1993-3del) c.1659-4_1659-3del c.574-4_574-3del (n.574-4_574-3del) c.-88-4_-88-3del (n.-88-4_-88-3del) n.2739-4_2739-3del n.2659-4_2659-3del c.2494-4_2494-3del (n.2494-4_2494-3del) c.2488-4_2488-3del (n.2488-4_2488-3del) c.892-4_892-3del (n.892-4_892-3del) n.2685-4_2685-3del | dbSNP |