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 |
|---|---|---|---|---|---|
| 5 | g.37153725_37153729del | CA559295466 | CPLANE1 | n.1372+14_1372+18del c.8373+14_8373+18del (n.8373+14_8373+18del) c.8211+14_8211+18del (n.8211+14_8211+18del) n.105+14_105+18del c.5385+14_5385+18del (n.5385+14_5385+18del) n.615+14_615+18del c.5409+14_5409+18del (n.5409+14_5409+18del) c.8370+14_8370+18del (n.8370+14_8370+18del) c.8262+14_8262+18del (n.8262+14_8262+18del) c.8244+14_8244+18del (n.8244+14_8244+18del) c.5016+14_5016+18del (n.5016+14_5016+18del) c.2946+14_2946+18del (n.2946+14_2946+18del) c.8319+14_8319+18del (n.8319+14_8319+18del) c.8265+14_8265+18del (n.8265+14_8265+18del) c.8055+14_8055+18del (n.8055+14_8055+18del) c.7701+14_7701+18del (n.7701+14_7701+18del) c.5598+14_5598+18del (n.5598+14_5598+18del) n.8548+14_8548+18del c.8184+14_8184+18del (n.8184+14_8184+18del) c.7380+14_7380+18del (n.7380+14_7380+18del) c.7185+14_7185+18del (n.7185+14_7185+18del) n.8542+14_8542+18del n.8488+14_8488+18del n.8597+14_8597+18del | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37153726_37153727delinsTA | CA1539650893 | CPLANE1 | n.1372+13_1372+14delinsTA c.8373+13_8373+14delinsTA (n.8373+13_8373+14delinsTA) c.8211+13_8211+14delinsTA (n.8211+13_8211+14delinsTA) n.105+13_105+14delinsTA c.5385+13_5385+14delinsTA (n.5385+13_5385+14delinsTA) n.615+13_615+14delinsTA c.5409+13_5409+14delinsTA (n.5409+13_5409+14delinsTA) c.8370+13_8370+14delinsTA (n.8370+13_8370+14delinsTA) c.8262+13_8262+14delinsTA (n.8262+13_8262+14delinsTA) c.8244+13_8244+14delinsTA (n.8244+13_8244+14delinsTA) c.5016+13_5016+14delinsTA (n.5016+13_5016+14delinsTA) c.2946+13_2946+14delinsTA (n.2946+13_2946+14delinsTA) c.8319+13_8319+14delinsTA (n.8319+13_8319+14delinsTA) c.8265+13_8265+14delinsTA (n.8265+13_8265+14delinsTA) c.8055+13_8055+14delinsTA (n.8055+13_8055+14delinsTA) c.7701+13_7701+14delinsTA (n.7701+13_7701+14delinsTA) c.5598+13_5598+14delinsTA (n.5598+13_5598+14delinsTA) n.8548+13_8548+14delinsTA c.8184+13_8184+14delinsTA (n.8184+13_8184+14delinsTA) c.7380+13_7380+14delinsTA (n.7380+13_7380+14delinsTA) c.7185+13_7185+14delinsTA (n.7185+13_7185+14delinsTA) n.8542+13_8542+14delinsTA n.8488+13_8488+14delinsTA n.8597+13_8597+14delinsTA | |
| 5 | g.37153729del | CA1539650896 | CPLANE1 | n.1372+13del c.8373+13del (n.8373+13del) c.8211+13del (n.8211+13del) n.105+13del c.5385+13del (n.5385+13del) n.615+13del c.5409+13del (n.5409+13del) c.8370+13del (n.8370+13del) c.8262+13del (n.8262+13del) c.8244+13del (n.8244+13del) c.5016+13del (n.5016+13del) c.2946+13del (n.2946+13del) c.8319+13del (n.8319+13del) c.8265+13del (n.8265+13del) c.8055+13del (n.8055+13del) c.7701+13del (n.7701+13del) c.5598+13del (n.5598+13del) n.8548+13del c.8184+13del (n.8184+13del) c.7380+13del (n.7380+13del) c.7185+13del (n.7185+13del) n.8542+13del n.8488+13del n.8597+13del | dbSNP |
| 5 | g.37153730G>C | CA3237814 | CPLANE1 | n.1372+10C>G c.8373+10C>G (n.8373+10C>G) c.8211+10C>G (n.8211+10C>G) n.105+10C>G c.5385+10C>G (n.5385+10C>G) n.615+10C>G c.5409+10C>G (n.5409+10C>G) c.8370+10C>G (n.8370+10C>G) c.8262+10C>G (n.8262+10C>G) c.8244+10C>G (n.8244+10C>G) c.5016+10C>G (n.5016+10C>G) c.2946+10C>G (n.2946+10C>G) c.8319+10C>G (n.8319+10C>G) c.8265+10C>G (n.8265+10C>G) c.8055+10C>G (n.8055+10C>G) c.7701+10C>G (n.7701+10C>G) c.5598+10C>G (n.5598+10C>G) n.8548+10C>G c.8184+10C>G (n.8184+10C>G) c.7380+10C>G (n.7380+10C>G) c.7185+10C>G (n.7185+10C>G) n.8542+10C>G n.8488+10C>G n.8597+10C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37153730G= | CA1539650899 | CPLANE1 | n.1372+10C= c.8373+10C= (n.8373+10C=) c.8211+10C= (n.8211+10C=) n.105+10C= c.5385+10C= (n.5385+10C=) n.615+10C= c.5409+10C= (n.5409+10C=) c.8370+10C= (n.8370+10C=) c.8262+10C= (n.8262+10C=) c.8244+10C= (n.8244+10C=) c.5016+10C= (n.5016+10C=) c.2946+10C= (n.2946+10C=) c.8319+10C= (n.8319+10C=) c.8265+10C= (n.8265+10C=) c.8055+10C= (n.8055+10C=) c.7701+10C= (n.7701+10C=) c.5598+10C= (n.5598+10C=) n.8548+10C= c.8184+10C= (n.8184+10C=) c.7380+10C= (n.7380+10C=) c.7185+10C= (n.7185+10C=) n.8542+10C= n.8488+10C= n.8597+10C= | |
| 5 | g.37153730G>T | CA2673584235 | CPLANE1 | n.1372+10C>A c.8373+10C>A (n.8373+10C>A) c.8211+10C>A (n.8211+10C>A) n.105+10C>A c.5385+10C>A (n.5385+10C>A) n.615+10C>A c.5409+10C>A (n.5409+10C>A) c.8370+10C>A (n.8370+10C>A) c.8262+10C>A (n.8262+10C>A) c.8244+10C>A (n.8244+10C>A) c.5016+10C>A (n.5016+10C>A) c.2946+10C>A (n.2946+10C>A) c.8319+10C>A (n.8319+10C>A) c.8265+10C>A (n.8265+10C>A) c.8055+10C>A (n.8055+10C>A) c.7701+10C>A (n.7701+10C>A) c.5598+10C>A (n.5598+10C>A) n.8548+10C>A c.8184+10C>A (n.8184+10C>A) c.7380+10C>A (n.7380+10C>A) c.7185+10C>A (n.7185+10C>A) n.8542+10C>A n.8488+10C>A n.8597+10C>A | gnomAD v4 |
| 5 | g.37153731G>A | CA1539650901 | CPLANE1 | n.1372+9C>T c.8373+9C>T (n.8373+9C>T) c.8211+9C>T (n.8211+9C>T) n.105+9C>T c.5385+9C>T (n.5385+9C>T) n.615+9C>T c.5409+9C>T (n.5409+9C>T) c.8370+9C>T (n.8370+9C>T) c.8262+9C>T (n.8262+9C>T) c.8244+9C>T (n.8244+9C>T) c.5016+9C>T (n.5016+9C>T) c.2946+9C>T (n.2946+9C>T) c.8319+9C>T (n.8319+9C>T) c.8265+9C>T (n.8265+9C>T) c.8055+9C>T (n.8055+9C>T) c.7701+9C>T (n.7701+9C>T) c.5598+9C>T (n.5598+9C>T) n.8548+9C>T c.8184+9C>T (n.8184+9C>T) c.7380+9C>T (n.7380+9C>T) c.7185+9C>T (n.7185+9C>T) n.8542+9C>T n.8488+9C>T n.8597+9C>T | dbSNP gnomAD v4 |
| 5 | g.37153731G= | CA1539650900 | CPLANE1 | n.1372+9C= c.8373+9C= (n.8373+9C=) c.8211+9C= (n.8211+9C=) n.105+9C= c.5385+9C= (n.5385+9C=) n.615+9C= c.5409+9C= (n.5409+9C=) c.8370+9C= (n.8370+9C=) c.8262+9C= (n.8262+9C=) c.8244+9C= (n.8244+9C=) c.5016+9C= (n.5016+9C=) c.2946+9C= (n.2946+9C=) c.8319+9C= (n.8319+9C=) c.8265+9C= (n.8265+9C=) c.8055+9C= (n.8055+9C=) c.7701+9C= (n.7701+9C=) c.5598+9C= (n.5598+9C=) n.8548+9C= c.8184+9C= (n.8184+9C=) c.7380+9C= (n.7380+9C=) c.7185+9C= (n.7185+9C=) n.8542+9C= n.8488+9C= n.8597+9C= | |
| 5 | g.37153733A= | CA1539650902 | CPLANE1 | n.1372+7T= c.8373+7T= (n.8373+7T=) c.8211+7T= (n.8211+7T=) n.105+7T= c.5385+7T= (n.5385+7T=) n.615+7T= c.5409+7T= (n.5409+7T=) c.8370+7T= (n.8370+7T=) c.8262+7T= (n.8262+7T=) c.8244+7T= (n.8244+7T=) c.5016+7T= (n.5016+7T=) c.2946+7T= (n.2946+7T=) c.8319+7T= (n.8319+7T=) c.8265+7T= (n.8265+7T=) c.8055+7T= (n.8055+7T=) c.7701+7T= (n.7701+7T=) c.5598+7T= (n.5598+7T=) n.8548+7T= c.8184+7T= (n.8184+7T=) c.7380+7T= (n.7380+7T=) c.7185+7T= (n.7185+7T=) n.8542+7T= n.8488+7T= n.8597+7T= | |
| 5 | g.37153733A>C | CA810306211 | CPLANE1 | n.1372+7T>G c.8373+7T>G (n.8373+7T>G) c.8211+7T>G (n.8211+7T>G) n.105+7T>G c.5385+7T>G (n.5385+7T>G) n.615+7T>G c.5409+7T>G (n.5409+7T>G) c.8370+7T>G (n.8370+7T>G) c.8262+7T>G (n.8262+7T>G) c.8244+7T>G (n.8244+7T>G) c.5016+7T>G (n.5016+7T>G) c.2946+7T>G (n.2946+7T>G) c.8319+7T>G (n.8319+7T>G) c.8265+7T>G (n.8265+7T>G) c.8055+7T>G (n.8055+7T>G) c.7701+7T>G (n.7701+7T>G) c.5598+7T>G (n.5598+7T>G) n.8548+7T>G c.8184+7T>G (n.8184+7T>G) c.7380+7T>G (n.7380+7T>G) c.7185+7T>G (n.7185+7T>G) n.8542+7T>G n.8488+7T>G n.8597+7T>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37153735T>C | CA2673584236 | CPLANE1 | n.1372+5A>G c.8373+5A>G (n.8373+5A>G) c.8211+5A>G (n.8211+5A>G) n.105+5A>G c.5385+5A>G (n.5385+5A>G) n.615+5A>G c.5409+5A>G (n.5409+5A>G) c.8370+5A>G (n.8370+5A>G) c.8262+5A>G (n.8262+5A>G) c.8244+5A>G (n.8244+5A>G) c.5016+5A>G (n.5016+5A>G) c.2946+5A>G (n.2946+5A>G) c.8319+5A>G (n.8319+5A>G) c.8265+5A>G (n.8265+5A>G) c.8055+5A>G (n.8055+5A>G) c.7701+5A>G (n.7701+5A>G) c.5598+5A>G (n.5598+5A>G) n.8548+5A>G c.8184+5A>G (n.8184+5A>G) c.7380+5A>G (n.7380+5A>G) c.7185+5A>G (n.7185+5A>G) n.8542+5A>G n.8488+5A>G n.8597+5A>G | gnomAD v4 |
| 5 | g.37153736C= | CA1539650904 | CPLANE1 | n.1372+4G= c.8373+4G= (n.8373+4G=) c.8211+4G= (n.8211+4G=) n.105+4G= c.5385+4G= (n.5385+4G=) n.615+4G= c.5409+4G= (n.5409+4G=) c.8370+4G= (n.8370+4G=) c.8262+4G= (n.8262+4G=) c.8244+4G= (n.8244+4G=) c.5016+4G= (n.5016+4G=) c.2946+4G= (n.2946+4G=) c.8319+4G= (n.8319+4G=) c.8265+4G= (n.8265+4G=) c.8055+4G= (n.8055+4G=) c.7701+4G= (n.7701+4G=) c.5598+4G= (n.5598+4G=) n.8548+4G= c.8184+4G= (n.8184+4G=) c.7380+4G= (n.7380+4G=) c.7185+4G= (n.7185+4G=) n.8542+4G= n.8488+4G= n.8597+4G= | |
| 5 | g.37153736C>T | CA559295467 | CPLANE1 | n.1372+4G>A c.8373+4G>A (n.8373+4G>A) c.8211+4G>A (n.8211+4G>A) n.105+4G>A c.5385+4G>A (n.5385+4G>A) n.615+4G>A c.5409+4G>A (n.5409+4G>A) c.8370+4G>A (n.8370+4G>A) c.8262+4G>A (n.8262+4G>A) c.8244+4G>A (n.8244+4G>A) c.5016+4G>A (n.5016+4G>A) c.2946+4G>A (n.2946+4G>A) c.8319+4G>A (n.8319+4G>A) c.8265+4G>A (n.8265+4G>A) c.8055+4G>A (n.8055+4G>A) c.7701+4G>A (n.7701+4G>A) c.5598+4G>A (n.5598+4G>A) n.8548+4G>A c.8184+4G>A (n.8184+4G>A) c.7380+4G>A (n.7380+4G>A) c.7185+4G>A (n.7185+4G>A) n.8542+4G>A n.8488+4G>A n.8597+4G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37153737T>C | CA3237815 | CPLANE1 | n.1372+3A>G c.8373+3A>G (n.8373+3A>G) c.8211+3A>G (n.8211+3A>G) n.105+3A>G c.5385+3A>G (n.5385+3A>G) n.615+3A>G c.5409+3A>G (n.5409+3A>G) c.8370+3A>G (n.8370+3A>G) c.8262+3A>G (n.8262+3A>G) c.8244+3A>G (n.8244+3A>G) c.5016+3A>G (n.5016+3A>G) c.2946+3A>G (n.2946+3A>G) c.8319+3A>G (n.8319+3A>G) c.8265+3A>G (n.8265+3A>G) c.8055+3A>G (n.8055+3A>G) c.7701+3A>G (n.7701+3A>G) c.5598+3A>G (n.5598+3A>G) n.8548+3A>G c.8184+3A>G (n.8184+3A>G) c.7380+3A>G (n.7380+3A>G) c.7185+3A>G (n.7185+3A>G) n.8542+3A>G n.8488+3A>G n.8597+3A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37153737T= | CA1539650906 | CPLANE1 | n.1372+3A= c.8373+3A= (n.8373+3A=) c.8211+3A= (n.8211+3A=) n.105+3A= c.5385+3A= (n.5385+3A=) n.615+3A= c.5409+3A= (n.5409+3A=) c.8370+3A= (n.8370+3A=) c.8262+3A= (n.8262+3A=) c.8244+3A= (n.8244+3A=) c.5016+3A= (n.5016+3A=) c.2946+3A= (n.2946+3A=) c.8319+3A= (n.8319+3A=) c.8265+3A= (n.8265+3A=) c.8055+3A= (n.8055+3A=) c.7701+3A= (n.7701+3A=) c.5598+3A= (n.5598+3A=) n.8548+3A= c.8184+3A= (n.8184+3A=) c.7380+3A= (n.7380+3A=) c.7185+3A= (n.7185+3A=) n.8542+3A= n.8488+3A= n.8597+3A= | |
| 5 | g.37153738A>C | CA359473579 | CPLANE1 | n.1372+2T>G c.8373+2T>G (n.8373+2T>G) c.8211+2T>G (n.8211+2T>G) n.105+2T>G c.5385+2T>G (n.5385+2T>G) n.615+2T>G c.5409+2T>G (n.5409+2T>G) c.8370+2T>G (n.8370+2T>G) c.8262+2T>G (n.8262+2T>G) c.8244+2T>G (n.8244+2T>G) c.5016+2T>G (n.5016+2T>G) c.2946+2T>G (n.2946+2T>G) c.8319+2T>G (n.8319+2T>G) c.8265+2T>G (n.8265+2T>G) c.8055+2T>G (n.8055+2T>G) c.7701+2T>G (n.7701+2T>G) c.5598+2T>G (n.5598+2T>G) n.8548+2T>G c.8184+2T>G (n.8184+2T>G) c.7380+2T>G (n.7380+2T>G) c.7185+2T>G (n.7185+2T>G) n.8542+2T>G n.8488+2T>G n.8597+2T>G | |
| 5 | g.37153738A>G | CA359473580 | CPLANE1 | n.1372+2T>C c.8373+2T>C (n.8373+2T>C) c.8211+2T>C (n.8211+2T>C) n.105+2T>C c.5385+2T>C (n.5385+2T>C) n.615+2T>C c.5409+2T>C (n.5409+2T>C) c.8370+2T>C (n.8370+2T>C) c.8262+2T>C (n.8262+2T>C) c.8244+2T>C (n.8244+2T>C) c.5016+2T>C (n.5016+2T>C) c.2946+2T>C (n.2946+2T>C) c.8319+2T>C (n.8319+2T>C) c.8265+2T>C (n.8265+2T>C) c.8055+2T>C (n.8055+2T>C) c.7701+2T>C (n.7701+2T>C) c.5598+2T>C (n.5598+2T>C) n.8548+2T>C c.8184+2T>C (n.8184+2T>C) c.7380+2T>C (n.7380+2T>C) c.7185+2T>C (n.7185+2T>C) n.8542+2T>C n.8488+2T>C n.8597+2T>C | gnomAD v4 |
| 5 | g.37153738A>T | CA359473582 | CPLANE1 | n.1372+2T>A c.8373+2T>A (n.8373+2T>A) c.8211+2T>A (n.8211+2T>A) n.105+2T>A c.5385+2T>A (n.5385+2T>A) n.615+2T>A c.5409+2T>A (n.5409+2T>A) c.8370+2T>A (n.8370+2T>A) c.8262+2T>A (n.8262+2T>A) c.8244+2T>A (n.8244+2T>A) c.5016+2T>A (n.5016+2T>A) c.2946+2T>A (n.2946+2T>A) c.8319+2T>A (n.8319+2T>A) c.8265+2T>A (n.8265+2T>A) c.8055+2T>A (n.8055+2T>A) c.7701+2T>A (n.7701+2T>A) c.5598+2T>A (n.5598+2T>A) n.8548+2T>A c.8184+2T>A (n.8184+2T>A) c.7380+2T>A (n.7380+2T>A) c.7185+2T>A (n.7185+2T>A) n.8542+2T>A n.8488+2T>A n.8597+2T>A | |
| 5 | g.37153739C>A | CA359473584 | CPLANE1 | n.1372+1G>T c.8373+1G>T (n.8373+1G>T) c.8211+1G>T (n.8211+1G>T) n.105+1G>T c.5385+1G>T (n.5385+1G>T) n.615+1G>T c.5409+1G>T (n.5409+1G>T) c.8370+1G>T (n.8370+1G>T) c.8262+1G>T (n.8262+1G>T) c.8244+1G>T (n.8244+1G>T) c.5016+1G>T (n.5016+1G>T) c.2946+1G>T (n.2946+1G>T) c.8319+1G>T (n.8319+1G>T) c.8265+1G>T (n.8265+1G>T) c.8055+1G>T (n.8055+1G>T) c.7701+1G>T (n.7701+1G>T) c.5598+1G>T (n.5598+1G>T) n.8548+1G>T c.8184+1G>T (n.8184+1G>T) c.7380+1G>T (n.7380+1G>T) c.7185+1G>T (n.7185+1G>T) n.8542+1G>T n.8488+1G>T n.8597+1G>T | dbSNP |
| 5 | g.37153739C= | CA1539650910 | CPLANE1 | n.1372+1G= c.8373+1G= (n.8373+1G=) c.8211+1G= (n.8211+1G=) n.105+1G= c.5385+1G= (n.5385+1G=) n.615+1G= c.5409+1G= (n.5409+1G=) c.8370+1G= (n.8370+1G=) c.8262+1G= (n.8262+1G=) c.8244+1G= (n.8244+1G=) c.5016+1G= (n.5016+1G=) c.2946+1G= (n.2946+1G=) c.8319+1G= (n.8319+1G=) c.8265+1G= (n.8265+1G=) c.8055+1G= (n.8055+1G=) c.7701+1G= (n.7701+1G=) c.5598+1G= (n.5598+1G=) n.8548+1G= c.8184+1G= (n.8184+1G=) c.7380+1G= (n.7380+1G=) c.7185+1G= (n.7185+1G=) n.8542+1G= n.8488+1G= n.8597+1G= | |
| 5 | g.37153739C>G | CA359473586 | CPLANE1 | n.1372+1G>C c.8373+1G>C (n.8373+1G>C) c.8211+1G>C (n.8211+1G>C) n.105+1G>C c.5385+1G>C (n.5385+1G>C) n.615+1G>C c.5409+1G>C (n.5409+1G>C) c.8370+1G>C (n.8370+1G>C) c.8262+1G>C (n.8262+1G>C) c.8244+1G>C (n.8244+1G>C) c.5016+1G>C (n.5016+1G>C) c.2946+1G>C (n.2946+1G>C) c.8319+1G>C (n.8319+1G>C) c.8265+1G>C (n.8265+1G>C) c.8055+1G>C (n.8055+1G>C) c.7701+1G>C (n.7701+1G>C) c.5598+1G>C (n.5598+1G>C) n.8548+1G>C c.8184+1G>C (n.8184+1G>C) c.7380+1G>C (n.7380+1G>C) c.7185+1G>C (n.7185+1G>C) n.8542+1G>C n.8488+1G>C n.8597+1G>C | |
| 5 | g.37153739C>T | CA359473587 | CPLANE1 | n.1372+1G>A c.8373+1G>A (n.8373+1G>A) c.8211+1G>A (n.8211+1G>A) n.105+1G>A c.5385+1G>A (n.5385+1G>A) n.615+1G>A c.5409+1G>A (n.5409+1G>A) c.8370+1G>A (n.8370+1G>A) c.8262+1G>A (n.8262+1G>A) c.8244+1G>A (n.8244+1G>A) c.5016+1G>A (n.5016+1G>A) c.2946+1G>A (n.2946+1G>A) c.8319+1G>A (n.8319+1G>A) c.8265+1G>A (n.8265+1G>A) c.8055+1G>A (n.8055+1G>A) c.7701+1G>A (n.7701+1G>A) c.5598+1G>A (n.5598+1G>A) n.8548+1G>A c.8184+1G>A (n.8184+1G>A) c.7380+1G>A (n.7380+1G>A) c.7185+1G>A (n.7185+1G>A) n.8542+1G>A n.8488+1G>A n.8597+1G>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37153740C>A | CA359473588 | CPLANE1 | n.1372G>T c.8373G>T (p.Lys2791Asn) c.8211G>T (p.Lys2737Asn) n.105G>T c.5385G>T (p.Lys1795Asn) n.615G>T c.1487G>T c.5409G>T (p.Lys1803Asn) c.8370G>T (p.Lys2790Asn) c.8262G>T (p.Lys2754Asn) c.8244G>T (p.Lys2748Asn) c.5016G>T (p.Lys1672Asn) c.2946G>T (p.Lys982Asn) c.8319G>T (p.Lys2773Asn) c.8265G>T (p.Lys2755Asn) c.8055G>T (p.Lys2685Asn) c.7701G>T (p.Lys2567Asn) c.5598G>T (p.Lys1866Asn) n.8548G>T c.8184G>T (p.Lys2728Asn) c.7380G>T (p.Lys2460Asn) c.7185G>T (p.Lys2395Asn) n.8542G>T n.8488G>T n.8597G>T | |
| 5 | g.37153740C= | CA1539650913 | CPLANE1 | n.1372G= c.8373G= (p.Lys2791=) c.8211G= (p.Lys2737=) n.105G= c.5385G= (p.Lys1795=) n.615G= c.1487G= c.5409G= (p.Lys1803=) c.8370G= (p.Lys2790=) c.8262G= (p.Lys2754=) c.8244G= (p.Lys2748=) c.5016G= (p.Lys1672=) c.2946G= (p.Lys982=) c.8319G= (p.Lys2773=) c.8265G= (p.Lys2755=) c.8055G= (p.Lys2685=) c.7701G= (p.Lys2567=) c.5598G= (p.Lys1866=) n.8548G= c.8184G= (p.Lys2728=) c.7380G= (p.Lys2460=) c.7185G= (p.Lys2395=) n.8542G= n.8488G= n.8597G= | |
| 5 | g.37153740C>G | CA359473589 | CPLANE1 | n.1372G>C c.8373G>C (p.Lys2791Asn) c.8211G>C (p.Lys2737Asn) n.105G>C c.5385G>C (p.Lys1795Asn) n.615G>C c.1487G>C c.5409G>C (p.Lys1803Asn) c.8370G>C (p.Lys2790Asn) c.8262G>C (p.Lys2754Asn) c.8244G>C (p.Lys2748Asn) c.5016G>C (p.Lys1672Asn) c.2946G>C (p.Lys982Asn) c.8319G>C (p.Lys2773Asn) c.8265G>C (p.Lys2755Asn) c.8055G>C (p.Lys2685Asn) c.7701G>C (p.Lys2567Asn) c.5598G>C (p.Lys1866Asn) n.8548G>C c.8184G>C (p.Lys2728Asn) c.7380G>C (p.Lys2460Asn) c.7185G>C (p.Lys2395Asn) n.8542G>C n.8488G>C n.8597G>C | |
| 5 | g.37153740C>T | CA444096580 | CPLANE1 | n.1372G>A c.8373G>A (p.Lys2791=) c.8211G>A (p.Lys2737=) n.105G>A c.5385G>A (p.Lys1795=) n.615G>A c.1487G>A c.5409G>A (p.Lys1803=) c.8370G>A (p.Lys2790=) c.8262G>A (p.Lys2754=) c.8244G>A (p.Lys2748=) c.5016G>A (p.Lys1672=) c.2946G>A (p.Lys982=) c.8319G>A (p.Lys2773=) c.8265G>A (p.Lys2755=) c.8055G>A (p.Lys2685=) c.7701G>A (p.Lys2567=) c.5598G>A (p.Lys1866=) n.8548G>A c.8184G>A (p.Lys2728=) c.7380G>A (p.Lys2460=) c.7185G>A (p.Lys2395=) n.8542G>A n.8488G>A n.8597G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37153741T>A | CA359473590 | CPLANE1 | n.1371A>T c.8372A>T (p.Lys2791Met) c.8210A>T (p.Lys2737Met) n.104A>T c.5384A>T (p.Lys1795Met) n.614A>T c.1486A>T c.5408A>T (p.Lys1803Met) c.8369A>T (p.Lys2790Met) c.8261A>T (p.Lys2754Met) c.8243A>T (p.Lys2748Met) c.5015A>T (p.Lys1672Met) c.2945A>T (p.Lys982Met) c.8318A>T (p.Lys2773Met) c.8264A>T (p.Lys2755Met) c.8054A>T (p.Lys2685Met) c.7700A>T (p.Lys2567Met) c.5597A>T (p.Lys1866Met) n.8547A>T c.8183A>T (p.Lys2728Met) c.7379A>T (p.Lys2460Met) c.7184A>T (p.Lys2395Met) n.8541A>T n.8487A>T n.8596A>T | |
| 5 | g.37153741T>C | CA359473591 | CPLANE1 | n.1371A>G c.8372A>G (p.Lys2791Arg) c.8210A>G (p.Lys2737Arg) n.104A>G c.5384A>G (p.Lys1795Arg) n.614A>G c.1486A>G c.5408A>G (p.Lys1803Arg) c.8369A>G (p.Lys2790Arg) c.8261A>G (p.Lys2754Arg) c.8243A>G (p.Lys2748Arg) c.5015A>G (p.Lys1672Arg) c.2945A>G (p.Lys982Arg) c.8318A>G (p.Lys2773Arg) c.8264A>G (p.Lys2755Arg) c.8054A>G (p.Lys2685Arg) c.7700A>G (p.Lys2567Arg) c.5597A>G (p.Lys1866Arg) n.8547A>G c.8183A>G (p.Lys2728Arg) c.7379A>G (p.Lys2460Arg) c.7184A>G (p.Lys2395Arg) n.8541A>G n.8487A>G n.8596A>G | |
| 5 | g.37153741T>G | CA359473592 | CPLANE1 | n.1371A>C c.8372A>C (p.Lys2791Thr) c.8210A>C (p.Lys2737Thr) n.104A>C c.5384A>C (p.Lys1795Thr) n.614A>C c.1486A>C c.5408A>C (p.Lys1803Thr) c.8369A>C (p.Lys2790Thr) c.8261A>C (p.Lys2754Thr) c.8243A>C (p.Lys2748Thr) c.5015A>C (p.Lys1672Thr) c.2945A>C (p.Lys982Thr) c.8318A>C (p.Lys2773Thr) c.8264A>C (p.Lys2755Thr) c.8054A>C (p.Lys2685Thr) c.7700A>C (p.Lys2567Thr) c.5597A>C (p.Lys1866Thr) n.8547A>C c.8183A>C (p.Lys2728Thr) c.7379A>C (p.Lys2460Thr) c.7184A>C (p.Lys2395Thr) n.8541A>C n.8487A>C n.8596A>C | |
| 5 | g.37153742T>A | CA359473595 | CPLANE1 | n.1370A>T c.8371A>T (p.Lys2791Ter) c.8209A>T (p.Lys2737Ter) n.103A>T c.5383A>T (p.Lys1795Ter) n.613A>T c.1485A>T c.5407A>T (p.Lys1803Ter) c.8368A>T (p.Lys2790Ter) c.8260A>T (p.Lys2754Ter) c.8242A>T (p.Lys2748Ter) c.5014A>T (p.Lys1672Ter) c.2944A>T (p.Lys982Ter) c.8317A>T (p.Lys2773Ter) c.8263A>T (p.Lys2755Ter) c.8053A>T (p.Lys2685Ter) c.7699A>T (p.Lys2567Ter) c.5596A>T (p.Lys1866Ter) n.8546A>T c.8182A>T (p.Lys2728Ter) c.7378A>T (p.Lys2460Ter) c.7183A>T (p.Lys2395Ter) n.8540A>T n.8486A>T n.8595A>T | |
| 5 | g.37153742T>C | CA359473594 | CPLANE1 | n.1370A>G c.8371A>G (p.Lys2791Glu) c.8209A>G (p.Lys2737Glu) n.103A>G c.5383A>G (p.Lys1795Glu) n.613A>G c.1485A>G c.5407A>G (p.Lys1803Glu) c.8368A>G (p.Lys2790Glu) c.8260A>G (p.Lys2754Glu) c.8242A>G (p.Lys2748Glu) c.5014A>G (p.Lys1672Glu) c.2944A>G (p.Lys982Glu) c.8317A>G (p.Lys2773Glu) c.8263A>G (p.Lys2755Glu) c.8053A>G (p.Lys2685Glu) c.7699A>G (p.Lys2567Glu) c.5596A>G (p.Lys1866Glu) n.8546A>G c.8182A>G (p.Lys2728Glu) c.7378A>G (p.Lys2460Glu) c.7183A>G (p.Lys2395Glu) n.8540A>G n.8486A>G n.8595A>G | |
| 5 | g.37153742T>G | CA359473593 | CPLANE1 | n.1370A>C c.8371A>C (p.Lys2791Gln) c.8209A>C (p.Lys2737Gln) n.103A>C c.5383A>C (p.Lys1795Gln) n.613A>C c.1485A>C c.5407A>C (p.Lys1803Gln) c.8368A>C (p.Lys2790Gln) c.8260A>C (p.Lys2754Gln) c.8242A>C (p.Lys2748Gln) c.5014A>C (p.Lys1672Gln) c.2944A>C (p.Lys982Gln) c.8317A>C (p.Lys2773Gln) c.8263A>C (p.Lys2755Gln) c.8053A>C (p.Lys2685Gln) c.7699A>C (p.Lys2567Gln) c.5596A>C (p.Lys1866Gln) n.8546A>C c.8182A>C (p.Lys2728Gln) c.7378A>C (p.Lys2460Gln) c.7183A>C (p.Lys2395Gln) n.8540A>C n.8486A>C n.8595A>C | |
| 5 | g.37153743A>C | CA359473596 | CPLANE1 | n.1369T>G c.8370T>G (p.Asp2790Glu) c.8208T>G (p.Asp2736Glu) n.102T>G c.5382T>G (p.Asp1794Glu) n.612T>G c.1484T>G c.5406T>G (p.Asp1802Glu) c.8367T>G (p.Asp2789Glu) c.8259T>G (p.Asp2753Glu) c.8241T>G (p.Asp2747Glu) c.5013T>G (p.Asp1671Glu) c.2943T>G (p.Asp981Glu) c.8316T>G (p.Asp2772Glu) c.8262T>G (p.Asp2754Glu) c.8052T>G (p.Asp2684Glu) c.7698T>G (p.Asp2566Glu) c.5595T>G (p.Asp1865Glu) n.8545T>G c.8181T>G (p.Asp2727Glu) c.7377T>G (p.Asp2459Glu) c.7182T>G (p.Asp2394Glu) n.8539T>G n.8485T>G n.8594T>G | |
| 5 | g.37153743A>G | CA444096581 | CPLANE1 | n.1369T>C c.8370T>C (p.Asp2790=) c.8208T>C (p.Asp2736=) n.102T>C c.5382T>C (p.Asp1794=) n.612T>C c.1484T>C c.5406T>C (p.Asp1802=) c.8367T>C (p.Asp2789=) c.8259T>C (p.Asp2753=) c.8241T>C (p.Asp2747=) c.5013T>C (p.Asp1671=) c.2943T>C (p.Asp981=) c.8316T>C (p.Asp2772=) c.8262T>C (p.Asp2754=) c.8052T>C (p.Asp2684=) c.7698T>C (p.Asp2566=) c.5595T>C (p.Asp1865=) n.8545T>C c.8181T>C (p.Asp2727=) c.7377T>C (p.Asp2459=) c.7182T>C (p.Asp2394=) n.8539T>C n.8485T>C n.8594T>C | |
| 5 | g.37153743A>T | CA359473597 | CPLANE1 | n.1369T>A c.8370T>A (p.Asp2790Glu) c.8208T>A (p.Asp2736Glu) n.102T>A c.5382T>A (p.Asp1794Glu) n.612T>A c.1484T>A c.5406T>A (p.Asp1802Glu) c.8367T>A (p.Asp2789Glu) c.8259T>A (p.Asp2753Glu) c.8241T>A (p.Asp2747Glu) c.5013T>A (p.Asp1671Glu) c.2943T>A (p.Asp981Glu) c.8316T>A (p.Asp2772Glu) c.8262T>A (p.Asp2754Glu) c.8052T>A (p.Asp2684Glu) c.7698T>A (p.Asp2566Glu) c.5595T>A (p.Asp1865Glu) n.8545T>A c.8181T>A (p.Asp2727Glu) c.7377T>A (p.Asp2459Glu) c.7182T>A (p.Asp2394Glu) n.8539T>A n.8485T>A n.8594T>A | |
| 5 | g.37153744T>A | CA359473598 | CPLANE1 | n.1368A>T c.8369A>T (p.Asp2790Val) c.8207A>T (p.Asp2736Val) n.101A>T c.5381A>T (p.Asp1794Val) n.611A>T c.1483A>T c.5405A>T (p.Asp1802Val) c.8366A>T (p.Asp2789Val) c.8258A>T (p.Asp2753Val) c.8240A>T (p.Asp2747Val) c.5012A>T (p.Asp1671Val) c.2942A>T (p.Asp981Val) c.8315A>T (p.Asp2772Val) c.8261A>T (p.Asp2754Val) c.8051A>T (p.Asp2684Val) c.7697A>T (p.Asp2566Val) c.5594A>T (p.Asp1865Val) n.8544A>T c.8180A>T (p.Asp2727Val) c.7376A>T (p.Asp2459Val) c.7181A>T (p.Asp2394Val) n.8538A>T n.8484A>T n.8593A>T | |
| 5 | g.37153744T>C | CA359473599 | CPLANE1 | n.1368A>G c.8369A>G (p.Asp2790Gly) c.8207A>G (p.Asp2736Gly) n.101A>G c.5381A>G (p.Asp1794Gly) n.611A>G c.1483A>G c.5405A>G (p.Asp1802Gly) c.8366A>G (p.Asp2789Gly) c.8258A>G (p.Asp2753Gly) c.8240A>G (p.Asp2747Gly) c.5012A>G (p.Asp1671Gly) c.2942A>G (p.Asp981Gly) c.8315A>G (p.Asp2772Gly) c.8261A>G (p.Asp2754Gly) c.8051A>G (p.Asp2684Gly) c.7697A>G (p.Asp2566Gly) c.5594A>G (p.Asp1865Gly) n.8544A>G c.8180A>G (p.Asp2727Gly) c.7376A>G (p.Asp2459Gly) c.7181A>G (p.Asp2394Gly) n.8538A>G n.8484A>G n.8593A>G | gnomAD v4 |
| 5 | g.37153744T>G | CA359473600 | CPLANE1 | n.1368A>C c.8369A>C (p.Asp2790Ala) c.8207A>C (p.Asp2736Ala) n.101A>C c.5381A>C (p.Asp1794Ala) n.611A>C c.1483A>C c.5405A>C (p.Asp1802Ala) c.8366A>C (p.Asp2789Ala) c.8258A>C (p.Asp2753Ala) c.8240A>C (p.Asp2747Ala) c.5012A>C (p.Asp1671Ala) c.2942A>C (p.Asp981Ala) c.8315A>C (p.Asp2772Ala) c.8261A>C (p.Asp2754Ala) c.8051A>C (p.Asp2684Ala) c.7697A>C (p.Asp2566Ala) c.5594A>C (p.Asp1865Ala) n.8544A>C c.8180A>C (p.Asp2727Ala) c.7376A>C (p.Asp2459Ala) c.7181A>C (p.Asp2394Ala) n.8538A>C n.8484A>C n.8593A>C | |
| 5 | g.37153745C>A | CA359473601 | CPLANE1 | n.1367G>T c.8368G>T (p.Asp2790Tyr) c.8206G>T (p.Asp2736Tyr) n.100G>T c.5380G>T (p.Asp1794Tyr) n.610G>T c.1482G>T c.5404G>T (p.Asp1802Tyr) c.8365G>T (p.Asp2789Tyr) c.8257G>T (p.Asp2753Tyr) c.8239G>T (p.Asp2747Tyr) c.5011G>T (p.Asp1671Tyr) c.2941G>T (p.Asp981Tyr) c.8314G>T (p.Asp2772Tyr) c.8260G>T (p.Asp2754Tyr) c.8050G>T (p.Asp2684Tyr) c.7696G>T (p.Asp2566Tyr) c.5593G>T (p.Asp1865Tyr) n.8543G>T c.8179G>T (p.Asp2727Tyr) c.7375G>T (p.Asp2459Tyr) c.7180G>T (p.Asp2394Tyr) n.8537G>T n.8483G>T n.8592G>T | |
| 5 | g.37153745C>G | CA359473602 | CPLANE1 | n.1367G>C c.8368G>C (p.Asp2790His) c.8206G>C (p.Asp2736His) n.100G>C c.5380G>C (p.Asp1794His) n.610G>C c.1482G>C c.5404G>C (p.Asp1802His) c.8365G>C (p.Asp2789His) c.8257G>C (p.Asp2753His) c.8239G>C (p.Asp2747His) c.5011G>C (p.Asp1671His) c.2941G>C (p.Asp981His) c.8314G>C (p.Asp2772His) c.8260G>C (p.Asp2754His) c.8050G>C (p.Asp2684His) c.7696G>C (p.Asp2566His) c.5593G>C (p.Asp1865His) n.8543G>C c.8179G>C (p.Asp2727His) c.7375G>C (p.Asp2459His) c.7180G>C (p.Asp2394His) n.8537G>C n.8483G>C n.8592G>C | |
| 5 | g.37153745C>T | CA359473603 | CPLANE1 | n.1367G>A c.8368G>A (p.Asp2790Asn) c.8206G>A (p.Asp2736Asn) n.100G>A c.5380G>A (p.Asp1794Asn) n.610G>A c.1482G>A c.5404G>A (p.Asp1802Asn) c.8365G>A (p.Asp2789Asn) c.8257G>A (p.Asp2753Asn) c.8239G>A (p.Asp2747Asn) c.5011G>A (p.Asp1671Asn) c.2941G>A (p.Asp981Asn) c.8314G>A (p.Asp2772Asn) c.8260G>A (p.Asp2754Asn) c.8050G>A (p.Asp2684Asn) c.7696G>A (p.Asp2566Asn) c.5593G>A (p.Asp1865Asn) n.8543G>A c.8179G>A (p.Asp2727Asn) c.7375G>A (p.Asp2459Asn) c.7180G>A (p.Asp2394Asn) n.8537G>A n.8483G>A n.8592G>A | |
| 5 | g.37153746A>C | CA359473604 | CPLANE1 | n.1366T>G c.8367T>G (p.Cys2789Trp) c.8205T>G (p.Cys2735Trp) n.99T>G c.5379T>G (p.Cys1793Trp) n.609T>G c.1481T>G c.5403T>G (p.Cys1801Trp) c.8364T>G (p.Cys2788Trp) c.8256T>G (p.Cys2752Trp) c.8238T>G (p.Cys2746Trp) c.5010T>G (p.Cys1670Trp) c.2940T>G (p.Cys980Trp) c.8313T>G (p.Cys2771Trp) c.8259T>G (p.Cys2753Trp) c.8049T>G (p.Cys2683Trp) c.7695T>G (p.Cys2565Trp) c.5592T>G (p.Cys1864Trp) n.8542T>G c.8178T>G (p.Cys2726Trp) c.7374T>G (p.Cys2458Trp) c.7179T>G (p.Cys2393Trp) n.8536T>G n.8482T>G n.8591T>G | |
| 5 | g.37153746A>G | CA444096583 | CPLANE1 | n.1366T>C c.8367T>C (p.Cys2789=) c.8205T>C (p.Cys2735=) n.99T>C c.5379T>C (p.Cys1793=) n.609T>C c.1481T>C c.5403T>C (p.Cys1801=) c.8364T>C (p.Cys2788=) c.8256T>C (p.Cys2752=) c.8238T>C (p.Cys2746=) c.5010T>C (p.Cys1670=) c.2940T>C (p.Cys980=) c.8313T>C (p.Cys2771=) c.8259T>C (p.Cys2753=) c.8049T>C (p.Cys2683=) c.7695T>C (p.Cys2565=) c.5592T>C (p.Cys1864=) n.8542T>C c.8178T>C (p.Cys2726=) c.7374T>C (p.Cys2458=) c.7179T>C (p.Cys2393=) n.8536T>C n.8482T>C n.8591T>C | |
| 5 | g.37153746A>T | CA359473605 | CPLANE1 | n.1366T>A c.8367T>A (p.Cys2789Ter) c.8205T>A (p.Cys2735Ter) n.99T>A c.5379T>A (p.Cys1793Ter) n.609T>A c.1481T>A c.5403T>A (p.Cys1801Ter) c.8364T>A (p.Cys2788Ter) c.8256T>A (p.Cys2752Ter) c.8238T>A (p.Cys2746Ter) c.5010T>A (p.Cys1670Ter) c.2940T>A (p.Cys980Ter) c.8313T>A (p.Cys2771Ter) c.8259T>A (p.Cys2753Ter) c.8049T>A (p.Cys2683Ter) c.7695T>A (p.Cys2565Ter) c.5592T>A (p.Cys1864Ter) n.8542T>A c.8178T>A (p.Cys2726Ter) c.7374T>A (p.Cys2458Ter) c.7179T>A (p.Cys2393Ter) n.8536T>A n.8482T>A n.8591T>A | |
| 5 | g.37153747C>A | CA359473606 | CPLANE1 | n.1365G>T c.8366G>T (p.Cys2789Phe) c.8204G>T (p.Cys2735Phe) n.98G>T c.5378G>T (p.Cys1793Phe) n.608G>T c.1480G>T c.5402G>T (p.Cys1801Phe) c.8363G>T (p.Cys2788Phe) c.8255G>T (p.Cys2752Phe) c.8237G>T (p.Cys2746Phe) c.5009G>T (p.Cys1670Phe) c.2939G>T (p.Cys980Phe) c.8312G>T (p.Cys2771Phe) c.8258G>T (p.Cys2753Phe) c.8048G>T (p.Cys2683Phe) c.7694G>T (p.Cys2565Phe) c.5591G>T (p.Cys1864Phe) n.8541G>T c.8177G>T (p.Cys2726Phe) c.7373G>T (p.Cys2458Phe) c.7178G>T (p.Cys2393Phe) n.8535G>T n.8481G>T n.8590G>T | dbSNP |
| 5 | g.37153747C= | CA1539650916 | CPLANE1 | n.1365G= c.8366G= (p.Cys2789=) c.8204G= (p.Cys2735=) n.98G= c.5378G= (p.Cys1793=) n.608G= c.1480G= c.5402G= (p.Cys1801=) c.8363G= (p.Cys2788=) c.8255G= (p.Cys2752=) c.8237G= (p.Cys2746=) c.5009G= (p.Cys1670=) c.2939G= (p.Cys980=) c.8312G= (p.Cys2771=) c.8258G= (p.Cys2753=) c.8048G= (p.Cys2683=) c.7694G= (p.Cys2565=) c.5591G= (p.Cys1864=) n.8541G= c.8177G= (p.Cys2726=) c.7373G= (p.Cys2458=) c.7178G= (p.Cys2393=) n.8535G= n.8481G= n.8590G= | |
| 5 | g.37153747C>G | CA3237816 | CPLANE1 | n.1365G>C c.8366G>C (p.Cys2789Ser) c.8204G>C (p.Cys2735Ser) n.98G>C c.5378G>C (p.Cys1793Ser) n.608G>C c.1480G>C c.5402G>C (p.Cys1801Ser) c.8363G>C (p.Cys2788Ser) c.8255G>C (p.Cys2752Ser) c.8237G>C (p.Cys2746Ser) c.5009G>C (p.Cys1670Ser) c.2939G>C (p.Cys980Ser) c.8312G>C (p.Cys2771Ser) c.8258G>C (p.Cys2753Ser) c.8048G>C (p.Cys2683Ser) c.7694G>C (p.Cys2565Ser) c.5591G>C (p.Cys1864Ser) n.8541G>C c.8177G>C (p.Cys2726Ser) c.7373G>C (p.Cys2458Ser) c.7178G>C (p.Cys2393Ser) n.8535G>C n.8481G>C n.8590G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37153747C>T | CA359473607 | CPLANE1 | n.1365G>A c.8366G>A (p.Cys2789Tyr) c.8204G>A (p.Cys2735Tyr) n.98G>A c.5378G>A (p.Cys1793Tyr) n.608G>A c.1480G>A c.5402G>A (p.Cys1801Tyr) c.8363G>A (p.Cys2788Tyr) c.8255G>A (p.Cys2752Tyr) c.8237G>A (p.Cys2746Tyr) c.5009G>A (p.Cys1670Tyr) c.2939G>A (p.Cys980Tyr) c.8312G>A (p.Cys2771Tyr) c.8258G>A (p.Cys2753Tyr) c.8048G>A (p.Cys2683Tyr) c.7694G>A (p.Cys2565Tyr) c.5591G>A (p.Cys1864Tyr) n.8541G>A c.8177G>A (p.Cys2726Tyr) c.7373G>A (p.Cys2458Tyr) c.7178G>A (p.Cys2393Tyr) n.8535G>A n.8481G>A n.8590G>A | |
| 5 | g.37153748A= | CA1539650921 | CPLANE1 | n.1364T= c.8365T= (p.Cys2789=) c.8203T= (p.Cys2735=) n.97T= c.5377T= (p.Cys1793=) n.607T= c.1479T= c.5401T= (p.Cys1801=) c.8362T= (p.Cys2788=) c.8254T= (p.Cys2752=) c.8236T= (p.Cys2746=) c.5008T= (p.Cys1670=) c.2938T= (p.Cys980=) c.8311T= (p.Cys2771=) c.8257T= (p.Cys2753=) c.8047T= (p.Cys2683=) c.7693T= (p.Cys2565=) c.5590T= (p.Cys1864=) n.8540T= c.8176T= (p.Cys2726=) c.7372T= (p.Cys2458=) c.7177T= (p.Cys2393=) n.8534T= n.8480T= n.8589T= | |
| 5 | g.37153748A>C | CA359473608 | CPLANE1 | n.1364T>G c.8365T>G (p.Cys2789Gly) c.8203T>G (p.Cys2735Gly) n.97T>G c.5377T>G (p.Cys1793Gly) n.607T>G c.1479T>G c.5401T>G (p.Cys1801Gly) c.8362T>G (p.Cys2788Gly) c.8254T>G (p.Cys2752Gly) c.8236T>G (p.Cys2746Gly) c.5008T>G (p.Cys1670Gly) c.2938T>G (p.Cys980Gly) c.8311T>G (p.Cys2771Gly) c.8257T>G (p.Cys2753Gly) c.8047T>G (p.Cys2683Gly) c.7693T>G (p.Cys2565Gly) c.5590T>G (p.Cys1864Gly) n.8540T>G c.8176T>G (p.Cys2726Gly) c.7372T>G (p.Cys2458Gly) c.7177T>G (p.Cys2393Gly) n.8534T>G n.8480T>G n.8589T>G | |
| 5 | g.37153748A>G | CA359473609 | CPLANE1 | n.1364T>C c.8365T>C (p.Cys2789Arg) c.8203T>C (p.Cys2735Arg) n.97T>C c.5377T>C (p.Cys1793Arg) n.607T>C c.1479T>C c.5401T>C (p.Cys1801Arg) c.8362T>C (p.Cys2788Arg) c.8254T>C (p.Cys2752Arg) c.8236T>C (p.Cys2746Arg) c.5008T>C (p.Cys1670Arg) c.2938T>C (p.Cys980Arg) c.8311T>C (p.Cys2771Arg) c.8257T>C (p.Cys2753Arg) c.8047T>C (p.Cys2683Arg) c.7693T>C (p.Cys2565Arg) c.5590T>C (p.Cys1864Arg) n.8540T>C c.8176T>C (p.Cys2726Arg) c.7372T>C (p.Cys2458Arg) c.7177T>C (p.Cys2393Arg) n.8534T>C n.8480T>C n.8589T>C | dbSNP |
| 5 | g.37153748A>T | CA359473610 | CPLANE1 | n.1364T>A c.8365T>A (p.Cys2789Ser) c.8203T>A (p.Cys2735Ser) n.97T>A c.5377T>A (p.Cys1793Ser) n.607T>A c.1479T>A c.5401T>A (p.Cys1801Ser) c.8362T>A (p.Cys2788Ser) c.8254T>A (p.Cys2752Ser) c.8236T>A (p.Cys2746Ser) c.5008T>A (p.Cys1670Ser) c.2938T>A (p.Cys980Ser) c.8311T>A (p.Cys2771Ser) c.8257T>A (p.Cys2753Ser) c.8047T>A (p.Cys2683Ser) c.7693T>A (p.Cys2565Ser) c.5590T>A (p.Cys1864Ser) n.8540T>A c.8176T>A (p.Cys2726Ser) c.7372T>A (p.Cys2458Ser) c.7177T>A (p.Cys2393Ser) n.8534T>A n.8480T>A n.8589T>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37153749A>C | CA359473611 | CPLANE1 | n.1363T>G c.8364T>G (p.His2788Gln) c.8202T>G (p.His2734Gln) n.96T>G c.5376T>G (p.His1792Gln) n.606T>G c.1478T>G c.5400T>G (p.His1800Gln) c.8361T>G (p.His2787Gln) c.8253T>G (p.His2751Gln) c.8235T>G (p.His2745Gln) c.5007T>G (p.His1669Gln) c.2937T>G (p.His979Gln) c.8310T>G (p.His2770Gln) c.8256T>G (p.His2752Gln) c.8046T>G (p.His2682Gln) c.7692T>G (p.His2564Gln) c.5589T>G (p.His1863Gln) n.8539T>G c.8175T>G (p.His2725Gln) c.7371T>G (p.His2457Gln) c.7176T>G (p.His2392Gln) n.8533T>G n.8479T>G n.8588T>G | |
| 5 | g.37153749A>G | CA444096586 | CPLANE1 | n.1363T>C c.8364T>C (p.His2788=) c.8202T>C (p.His2734=) n.96T>C c.5376T>C (p.His1792=) n.606T>C c.1478T>C c.5400T>C (p.His1800=) c.8361T>C (p.His2787=) c.8253T>C (p.His2751=) c.8235T>C (p.His2745=) c.5007T>C (p.His1669=) c.2937T>C (p.His979=) c.8310T>C (p.His2770=) c.8256T>C (p.His2752=) c.8046T>C (p.His2682=) c.7692T>C (p.His2564=) c.5589T>C (p.His1863=) n.8539T>C c.8175T>C (p.His2725=) c.7371T>C (p.His2457=) c.7176T>C (p.His2392=) n.8533T>C n.8479T>C n.8588T>C | gnomAD v4 |
| 5 | g.37153749A>T | CA359473612 | CPLANE1 | n.1363T>A c.8364T>A (p.His2788Gln) c.8202T>A (p.His2734Gln) n.96T>A c.5376T>A (p.His1792Gln) n.606T>A c.1478T>A c.5400T>A (p.His1800Gln) c.8361T>A (p.His2787Gln) c.8253T>A (p.His2751Gln) c.8235T>A (p.His2745Gln) c.5007T>A (p.His1669Gln) c.2937T>A (p.His979Gln) c.8310T>A (p.His2770Gln) c.8256T>A (p.His2752Gln) c.8046T>A (p.His2682Gln) c.7692T>A (p.His2564Gln) c.5589T>A (p.His1863Gln) n.8539T>A c.8175T>A (p.His2725Gln) c.7371T>A (p.His2457Gln) c.7176T>A (p.His2392Gln) n.8533T>A n.8479T>A n.8588T>A | |
| 5 | g.37153750T>A | CA359473613 | CPLANE1 | n.1362A>T c.8363A>T (p.His2788Leu) c.8201A>T (p.His2734Leu) n.95A>T c.5375A>T (p.His1792Leu) n.605A>T c.1477A>T c.5399A>T (p.His1800Leu) c.8360A>T (p.His2787Leu) c.8252A>T (p.His2751Leu) c.8234A>T (p.His2745Leu) c.5006A>T (p.His1669Leu) c.2936A>T (p.His979Leu) c.8309A>T (p.His2770Leu) c.8255A>T (p.His2752Leu) c.8045A>T (p.His2682Leu) c.7691A>T (p.His2564Leu) c.5588A>T (p.His1863Leu) n.8538A>T c.8174A>T (p.His2725Leu) c.7370A>T (p.His2457Leu) c.7175A>T (p.His2392Leu) n.8532A>T n.8478A>T n.8587A>T | |
| 5 | g.37153750T>C | CA3237817 | CPLANE1 | n.1362A>G c.8363A>G (p.His2788Arg) c.8201A>G (p.His2734Arg) n.95A>G c.5375A>G (p.His1792Arg) n.605A>G c.1477A>G c.5399A>G (p.His1800Arg) c.8360A>G (p.His2787Arg) c.8252A>G (p.His2751Arg) c.8234A>G (p.His2745Arg) c.5006A>G (p.His1669Arg) c.2936A>G (p.His979Arg) c.8309A>G (p.His2770Arg) c.8255A>G (p.His2752Arg) c.8045A>G (p.His2682Arg) c.7691A>G (p.His2564Arg) c.5588A>G (p.His1863Arg) n.8538A>G c.8174A>G (p.His2725Arg) c.7370A>G (p.His2457Arg) c.7175A>G (p.His2392Arg) n.8532A>G n.8478A>G n.8587A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37153750T>G | CA359473614 | CPLANE1 | n.1362A>C c.8363A>C (p.His2788Pro) c.8201A>C (p.His2734Pro) n.95A>C c.5375A>C (p.His1792Pro) n.605A>C c.1477A>C c.5399A>C (p.His1800Pro) c.8360A>C (p.His2787Pro) c.8252A>C (p.His2751Pro) c.8234A>C (p.His2745Pro) c.5006A>C (p.His1669Pro) c.2936A>C (p.His979Pro) c.8309A>C (p.His2770Pro) c.8255A>C (p.His2752Pro) c.8045A>C (p.His2682Pro) c.7691A>C (p.His2564Pro) c.5588A>C (p.His1863Pro) n.8538A>C c.8174A>C (p.His2725Pro) c.7370A>C (p.His2457Pro) c.7175A>C (p.His2392Pro) n.8532A>C n.8478A>C n.8587A>C | |
| 5 | g.37153750T= | CA1539650927 | CPLANE1 | n.1362A= c.8363A= (p.His2788=) c.8201A= (p.His2734=) n.95A= c.5375A= (p.His1792=) n.605A= c.1477A= c.5399A= (p.His1800=) c.8360A= (p.His2787=) c.8252A= (p.His2751=) c.8234A= (p.His2745=) c.5006A= (p.His1669=) c.2936A= (p.His979=) c.8309A= (p.His2770=) c.8255A= (p.His2752=) c.8045A= (p.His2682=) c.7691A= (p.His2564=) c.5588A= (p.His1863=) n.8538A= c.8174A= (p.His2725=) c.7370A= (p.His2457=) c.7175A= (p.His2392=) n.8532A= n.8478A= n.8587A= | |
| 5 | g.37153751G>A | CA117042782 | CPLANE1 | n.1361C>T c.8362C>T (p.His2788Tyr) c.8200C>T (p.His2734Tyr) n.94C>T c.5374C>T (p.His1792Tyr) n.604C>T c.1476C>T c.5398C>T (p.His1800Tyr) c.8359C>T (p.His2787Tyr) c.8251C>T (p.His2751Tyr) c.8233C>T (p.His2745Tyr) c.5005C>T (p.His1669Tyr) c.2935C>T (p.His979Tyr) c.8308C>T (p.His2770Tyr) c.8254C>T (p.His2752Tyr) c.8044C>T (p.His2682Tyr) c.7690C>T (p.His2564Tyr) c.5587C>T (p.His1863Tyr) n.8537C>T c.8173C>T (p.His2725Tyr) c.7369C>T (p.His2457Tyr) c.7174C>T (p.His2392Tyr) n.8531C>T n.8477C>T n.8586C>T | dbSNP |
| 5 | g.37153751G>C | CA359473615 | CPLANE1 | n.1361C>G c.8362C>G (p.His2788Asp) c.8200C>G (p.His2734Asp) n.94C>G c.5374C>G (p.His1792Asp) n.604C>G c.1476C>G c.5398C>G (p.His1800Asp) c.8359C>G (p.His2787Asp) c.8251C>G (p.His2751Asp) c.8233C>G (p.His2745Asp) c.5005C>G (p.His1669Asp) c.2935C>G (p.His979Asp) c.8308C>G (p.His2770Asp) c.8254C>G (p.His2752Asp) c.8044C>G (p.His2682Asp) c.7690C>G (p.His2564Asp) c.5587C>G (p.His1863Asp) n.8537C>G c.8173C>G (p.His2725Asp) c.7369C>G (p.His2457Asp) c.7174C>G (p.His2392Asp) n.8531C>G n.8477C>G n.8586C>G | |
| 5 | g.37153751G= | CA1539650929 | CPLANE1 | n.1361C= c.8362C= (p.His2788=) c.8200C= (p.His2734=) n.94C= c.5374C= (p.His1792=) n.604C= c.1476C= c.5398C= (p.His1800=) c.8359C= (p.His2787=) c.8251C= (p.His2751=) c.8233C= (p.His2745=) c.5005C= (p.His1669=) c.2935C= (p.His979=) c.8308C= (p.His2770=) c.8254C= (p.His2752=) c.8044C= (p.His2682=) c.7690C= (p.His2564=) c.5587C= (p.His1863=) n.8537C= c.8173C= (p.His2725=) c.7369C= (p.His2457=) c.7174C= (p.His2392=) n.8531C= n.8477C= n.8586C= | |
| 5 | g.37153751G>T | CA359473616 | CPLANE1 | n.1361C>A c.8362C>A (p.His2788Asn) c.8200C>A (p.His2734Asn) n.94C>A c.5374C>A (p.His1792Asn) n.604C>A c.1476C>A c.5398C>A (p.His1800Asn) c.8359C>A (p.His2787Asn) c.8251C>A (p.His2751Asn) c.8233C>A (p.His2745Asn) c.5005C>A (p.His1669Asn) c.2935C>A (p.His979Asn) c.8308C>A (p.His2770Asn) c.8254C>A (p.His2752Asn) c.8044C>A (p.His2682Asn) c.7690C>A (p.His2564Asn) c.5587C>A (p.His1863Asn) n.8537C>A c.8173C>A (p.His2725Asn) c.7369C>A (p.His2457Asn) c.7174C>A (p.His2392Asn) n.8531C>A n.8477C>A n.8586C>A | |
| 5 | g.37153752T>A | CA444096587 | CPLANE1 | n.1360A>T c.8361A>T (p.Leu2787=) c.8199A>T (p.Leu2733=) n.93A>T c.5373A>T (p.Leu1791=) n.603A>T c.1475A>T c.5397A>T (p.Leu1799=) c.8358A>T (p.Leu2786=) c.8250A>T (p.Leu2750=) c.8232A>T (p.Leu2744=) c.5004A>T (p.Leu1668=) c.2934A>T (p.Leu978=) c.8307A>T (p.Leu2769=) c.8253A>T (p.Leu2751=) c.8043A>T (p.Leu2681=) c.7689A>T (p.Leu2563=) c.5586A>T (p.Leu1862=) n.8536A>T c.8172A>T (p.Leu2724=) c.7368A>T (p.Leu2456=) c.7173A>T (p.Leu2391=) n.8530A>T n.8476A>T n.8585A>T | |
| 5 | g.37153752T>C | CA444096588 | CPLANE1 | n.1360A>G c.8361A>G (p.Leu2787=) c.8199A>G (p.Leu2733=) n.93A>G c.5373A>G (p.Leu1791=) n.603A>G c.1475A>G c.5397A>G (p.Leu1799=) c.8358A>G (p.Leu2786=) c.8250A>G (p.Leu2750=) c.8232A>G (p.Leu2744=) c.5004A>G (p.Leu1668=) c.2934A>G (p.Leu978=) c.8307A>G (p.Leu2769=) c.8253A>G (p.Leu2751=) c.8043A>G (p.Leu2681=) c.7689A>G (p.Leu2563=) c.5586A>G (p.Leu1862=) n.8536A>G c.8172A>G (p.Leu2724=) c.7368A>G (p.Leu2456=) c.7173A>G (p.Leu2391=) n.8530A>G n.8476A>G n.8585A>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37153752T>G | CA444096589 | CPLANE1 | n.1360A>C c.8361A>C (p.Leu2787=) c.8199A>C (p.Leu2733=) n.93A>C c.5373A>C (p.Leu1791=) n.603A>C c.1475A>C c.5397A>C (p.Leu1799=) c.8358A>C (p.Leu2786=) c.8250A>C (p.Leu2750=) c.8232A>C (p.Leu2744=) c.5004A>C (p.Leu1668=) c.2934A>C (p.Leu978=) c.8307A>C (p.Leu2769=) c.8253A>C (p.Leu2751=) c.8043A>C (p.Leu2681=) c.7689A>C (p.Leu2563=) c.5586A>C (p.Leu1862=) n.8536A>C c.8172A>C (p.Leu2724=) c.7368A>C (p.Leu2456=) c.7173A>C (p.Leu2391=) n.8530A>C n.8476A>C n.8585A>C | |
| 5 | g.37153752T= | CA1539650932 | CPLANE1 | n.1360A= c.8361A= (p.Leu2787=) c.8199A= (p.Leu2733=) n.93A= c.5373A= (p.Leu1791=) n.603A= c.1475A= c.5397A= (p.Leu1799=) c.8358A= (p.Leu2786=) c.8250A= (p.Leu2750=) c.8232A= (p.Leu2744=) c.5004A= (p.Leu1668=) c.2934A= (p.Leu978=) c.8307A= (p.Leu2769=) c.8253A= (p.Leu2751=) c.8043A= (p.Leu2681=) c.7689A= (p.Leu2563=) c.5586A= (p.Leu1862=) n.8536A= c.8172A= (p.Leu2724=) c.7368A= (p.Leu2456=) c.7173A= (p.Leu2391=) n.8530A= n.8476A= n.8585A= | |
| 5 | g.37153753A>C | CA359473617 | CPLANE1 | n.1359T>G c.8360T>G (p.Leu2787Arg) c.8198T>G (p.Leu2733Arg) n.92T>G c.5372T>G (p.Leu1791Arg) n.602T>G c.1474T>G c.5396T>G (p.Leu1799Arg) c.8357T>G (p.Leu2786Arg) c.8249T>G (p.Leu2750Arg) c.8231T>G (p.Leu2744Arg) c.5003T>G (p.Leu1668Arg) c.2933T>G (p.Leu978Arg) c.8306T>G (p.Leu2769Arg) c.8252T>G (p.Leu2751Arg) c.8042T>G (p.Leu2681Arg) c.7688T>G (p.Leu2563Arg) c.5585T>G (p.Leu1862Arg) n.8535T>G c.8171T>G (p.Leu2724Arg) c.7367T>G (p.Leu2456Arg) c.7172T>G (p.Leu2391Arg) n.8529T>G n.8475T>G n.8584T>G | |
| 5 | g.37153753A>G | CA359473618 | CPLANE1 | n.1359T>C c.8360T>C (p.Leu2787Pro) c.8198T>C (p.Leu2733Pro) n.92T>C c.5372T>C (p.Leu1791Pro) n.602T>C c.1474T>C c.5396T>C (p.Leu1799Pro) c.8357T>C (p.Leu2786Pro) c.8249T>C (p.Leu2750Pro) c.8231T>C (p.Leu2744Pro) c.5003T>C (p.Leu1668Pro) c.2933T>C (p.Leu978Pro) c.8306T>C (p.Leu2769Pro) c.8252T>C (p.Leu2751Pro) c.8042T>C (p.Leu2681Pro) c.7688T>C (p.Leu2563Pro) c.5585T>C (p.Leu1862Pro) n.8535T>C c.8171T>C (p.Leu2724Pro) c.7367T>C (p.Leu2456Pro) c.7172T>C (p.Leu2391Pro) n.8529T>C n.8475T>C n.8584T>C | |
| 5 | g.37153753A>T | CA359473619 | CPLANE1 | n.1359T>A c.8360T>A (p.Leu2787Gln) c.8198T>A (p.Leu2733Gln) n.92T>A c.5372T>A (p.Leu1791Gln) n.602T>A c.1474T>A c.5396T>A (p.Leu1799Gln) c.8357T>A (p.Leu2786Gln) c.8249T>A (p.Leu2750Gln) c.8231T>A (p.Leu2744Gln) c.5003T>A (p.Leu1668Gln) c.2933T>A (p.Leu978Gln) c.8306T>A (p.Leu2769Gln) c.8252T>A (p.Leu2751Gln) c.8042T>A (p.Leu2681Gln) c.7688T>A (p.Leu2563Gln) c.5585T>A (p.Leu1862Gln) n.8535T>A c.8171T>A (p.Leu2724Gln) c.7367T>A (p.Leu2456Gln) c.7172T>A (p.Leu2391Gln) n.8529T>A n.8475T>A n.8584T>A | |
| 5 | g.37153754G>A | CA3237819 | CPLANE1 | n.1358C>T c.8359C>T (p.Leu2787=) c.8197C>T (p.Leu2733=) n.91C>T c.5371C>T (p.Leu1791=) n.601C>T c.1473C>T c.5395C>T (p.Leu1799=) c.8356C>T (p.Leu2786=) c.8248C>T (p.Leu2750=) c.8230C>T (p.Leu2744=) c.5002C>T (p.Leu1668=) c.2932C>T (p.Leu978=) c.8305C>T (p.Leu2769=) c.8251C>T (p.Leu2751=) c.8041C>T (p.Leu2681=) c.7687C>T (p.Leu2563=) c.5584C>T (p.Leu1862=) n.8534C>T c.8170C>T (p.Leu2724=) c.7366C>T (p.Leu2456=) c.7171C>T (p.Leu2391=) n.8528C>T n.8474C>T n.8583C>T | dbSNP ExAC gnomAD v2 |
| 5 | g.37153754G>C | CA3237818 | CPLANE1 | n.1358C>G c.8359C>G (p.Leu2787Val) c.8197C>G (p.Leu2733Val) n.91C>G c.5371C>G (p.Leu1791Val) n.601C>G c.1473C>G c.5395C>G (p.Leu1799Val) c.8356C>G (p.Leu2786Val) c.8248C>G (p.Leu2750Val) c.8230C>G (p.Leu2744Val) c.5002C>G (p.Leu1668Val) c.2932C>G (p.Leu978Val) c.8305C>G (p.Leu2769Val) c.8251C>G (p.Leu2751Val) c.8041C>G (p.Leu2681Val) c.7687C>G (p.Leu2563Val) c.5584C>G (p.Leu1862Val) n.8534C>G c.8170C>G (p.Leu2724Val) c.7366C>G (p.Leu2456Val) c.7171C>G (p.Leu2391Val) n.8528C>G n.8474C>G n.8583C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37153754G= | CA1539650936 | CPLANE1 | n.1358C= c.8359C= (p.Leu2787=) c.8197C= (p.Leu2733=) n.91C= c.5371C= (p.Leu1791=) n.601C= c.1473C= c.5395C= (p.Leu1799=) c.8356C= (p.Leu2786=) c.8248C= (p.Leu2750=) c.8230C= (p.Leu2744=) c.5002C= (p.Leu1668=) c.2932C= (p.Leu978=) c.8305C= (p.Leu2769=) c.8251C= (p.Leu2751=) c.8041C= (p.Leu2681=) c.7687C= (p.Leu2563=) c.5584C= (p.Leu1862=) n.8534C= c.8170C= (p.Leu2724=) c.7366C= (p.Leu2456=) c.7171C= (p.Leu2391=) n.8528C= n.8474C= n.8583C= | |
| 5 | g.37153754G>T | CA359473620 | CPLANE1 | n.1358C>A c.8359C>A (p.Leu2787Ile) c.8197C>A (p.Leu2733Ile) n.91C>A c.5371C>A (p.Leu1791Ile) n.601C>A c.1473C>A c.5395C>A (p.Leu1799Ile) c.8356C>A (p.Leu2786Ile) c.8248C>A (p.Leu2750Ile) c.8230C>A (p.Leu2744Ile) c.5002C>A (p.Leu1668Ile) c.2932C>A (p.Leu978Ile) c.8305C>A (p.Leu2769Ile) c.8251C>A (p.Leu2751Ile) c.8041C>A (p.Leu2681Ile) c.7687C>A (p.Leu2563Ile) c.5584C>A (p.Leu1862Ile) n.8534C>A c.8170C>A (p.Leu2724Ile) c.7366C>A (p.Leu2456Ile) c.7171C>A (p.Leu2391Ile) n.8528C>A n.8474C>A n.8583C>A | gnomAD v4 |
| 5 | g.37153755A= | CA1539650940 | CPLANE1 | n.1357T= c.8358T= (p.Asp2786=) c.8196T= (p.Asp2732=) n.90T= c.5370T= (p.Asp1790=) n.600T= c.1472T= c.5394T= (p.Asp1798=) c.8355T= (p.Asp2785=) c.8247T= (p.Asp2749=) c.8229T= (p.Asp2743=) c.5001T= (p.Asp1667=) c.2931T= (p.Asp977=) c.8304T= (p.Asp2768=) c.8250T= (p.Asp2750=) c.8040T= (p.Asp2680=) c.7686T= (p.Asp2562=) c.5583T= (p.Asp1861=) n.8533T= c.8169T= (p.Asp2723=) c.7365T= (p.Asp2455=) c.7170T= (p.Asp2390=) n.8527T= n.8473T= n.8582T= | |
| 5 | g.37153755A>C | CA359473621 | CPLANE1 | n.1357T>G c.8358T>G (p.Asp2786Glu) c.8196T>G (p.Asp2732Glu) n.90T>G c.5370T>G (p.Asp1790Glu) n.600T>G c.1472T>G c.5394T>G (p.Asp1798Glu) c.8355T>G (p.Asp2785Glu) c.8247T>G (p.Asp2749Glu) c.8229T>G (p.Asp2743Glu) c.5001T>G (p.Asp1667Glu) c.2931T>G (p.Asp977Glu) c.8304T>G (p.Asp2768Glu) c.8250T>G (p.Asp2750Glu) c.8040T>G (p.Asp2680Glu) c.7686T>G (p.Asp2562Glu) c.5583T>G (p.Asp1861Glu) n.8533T>G c.8169T>G (p.Asp2723Glu) c.7365T>G (p.Asp2455Glu) c.7170T>G (p.Asp2390Glu) n.8527T>G n.8473T>G n.8582T>G | dbSNP gnomAD v4 |
| 5 | g.37153755A>G | CA444096592 | CPLANE1 | n.1357T>C c.8358T>C (p.Asp2786=) c.8196T>C (p.Asp2732=) n.90T>C c.5370T>C (p.Asp1790=) n.600T>C c.1472T>C c.5394T>C (p.Asp1798=) c.8355T>C (p.Asp2785=) c.8247T>C (p.Asp2749=) c.8229T>C (p.Asp2743=) c.5001T>C (p.Asp1667=) c.2931T>C (p.Asp977=) c.8304T>C (p.Asp2768=) c.8250T>C (p.Asp2750=) c.8040T>C (p.Asp2680=) c.7686T>C (p.Asp2562=) c.5583T>C (p.Asp1861=) n.8533T>C c.8169T>C (p.Asp2723=) c.7365T>C (p.Asp2455=) c.7170T>C (p.Asp2390=) n.8527T>C n.8473T>C n.8582T>C | |
| 5 | g.37153755A>T | CA359473622 | CPLANE1 | n.1357T>A c.8358T>A (p.Asp2786Glu) c.8196T>A (p.Asp2732Glu) n.90T>A c.5370T>A (p.Asp1790Glu) n.600T>A c.1472T>A c.5394T>A (p.Asp1798Glu) c.8355T>A (p.Asp2785Glu) c.8247T>A (p.Asp2749Glu) c.8229T>A (p.Asp2743Glu) c.5001T>A (p.Asp1667Glu) c.2931T>A (p.Asp977Glu) c.8304T>A (p.Asp2768Glu) c.8250T>A (p.Asp2750Glu) c.8040T>A (p.Asp2680Glu) c.7686T>A (p.Asp2562Glu) c.5583T>A (p.Asp1861Glu) n.8533T>A c.8169T>A (p.Asp2723Glu) c.7365T>A (p.Asp2455Glu) c.7170T>A (p.Asp2390Glu) n.8527T>A n.8473T>A n.8582T>A | |
| 5 | g.37153756T>A | CA359473623 | CPLANE1 | n.1356A>T c.8357A>T (p.Asp2786Val) c.8195A>T (p.Asp2732Val) n.89A>T c.5369A>T (p.Asp1790Val) n.599A>T c.1471A>T c.5393A>T (p.Asp1798Val) c.8354A>T (p.Asp2785Val) c.8246A>T (p.Asp2749Val) c.8228A>T (p.Asp2743Val) c.5000A>T (p.Asp1667Val) c.2930A>T (p.Asp977Val) c.8303A>T (p.Asp2768Val) c.8249A>T (p.Asp2750Val) c.8039A>T (p.Asp2680Val) c.7685A>T (p.Asp2562Val) c.5582A>T (p.Asp1861Val) n.8532A>T c.8168A>T (p.Asp2723Val) c.7364A>T (p.Asp2455Val) c.7169A>T (p.Asp2390Val) n.8526A>T n.8472A>T n.8581A>T | |
| 5 | g.37153756T>C | CA359473624 | CPLANE1 | n.1356A>G c.8357A>G (p.Asp2786Gly) c.8195A>G (p.Asp2732Gly) n.89A>G c.5369A>G (p.Asp1790Gly) n.599A>G c.1471A>G c.5393A>G (p.Asp1798Gly) c.8354A>G (p.Asp2785Gly) c.8246A>G (p.Asp2749Gly) c.8228A>G (p.Asp2743Gly) c.5000A>G (p.Asp1667Gly) c.2930A>G (p.Asp977Gly) c.8303A>G (p.Asp2768Gly) c.8249A>G (p.Asp2750Gly) c.8039A>G (p.Asp2680Gly) c.7685A>G (p.Asp2562Gly) c.5582A>G (p.Asp1861Gly) n.8532A>G c.8168A>G (p.Asp2723Gly) c.7364A>G (p.Asp2455Gly) c.7169A>G (p.Asp2390Gly) n.8526A>G n.8472A>G n.8581A>G | COSMIC COSMIC |
| 5 | g.37153756T>G | CA359473625 | CPLANE1 | n.1356A>C c.8357A>C (p.Asp2786Ala) c.8195A>C (p.Asp2732Ala) n.89A>C c.5369A>C (p.Asp1790Ala) n.599A>C c.1471A>C c.5393A>C (p.Asp1798Ala) c.8354A>C (p.Asp2785Ala) c.8246A>C (p.Asp2749Ala) c.8228A>C (p.Asp2743Ala) c.5000A>C (p.Asp1667Ala) c.2930A>C (p.Asp977Ala) c.8303A>C (p.Asp2768Ala) c.8249A>C (p.Asp2750Ala) c.8039A>C (p.Asp2680Ala) c.7685A>C (p.Asp2562Ala) c.5582A>C (p.Asp1861Ala) n.8532A>C c.8168A>C (p.Asp2723Ala) c.7364A>C (p.Asp2455Ala) c.7169A>C (p.Asp2390Ala) n.8526A>C n.8472A>C n.8581A>C | dbSNP |
| 5 | g.37153756T= | CA1539650945 | CPLANE1 | n.1356A= c.8357A= (p.Asp2786=) c.8195A= (p.Asp2732=) n.89A= c.5369A= (p.Asp1790=) n.599A= c.1471A= c.5393A= (p.Asp1798=) c.8354A= (p.Asp2785=) c.8246A= (p.Asp2749=) c.8228A= (p.Asp2743=) c.5000A= (p.Asp1667=) c.2930A= (p.Asp977=) c.8303A= (p.Asp2768=) c.8249A= (p.Asp2750=) c.8039A= (p.Asp2680=) c.7685A= (p.Asp2562=) c.5582A= (p.Asp1861=) n.8532A= c.8168A= (p.Asp2723=) c.7364A= (p.Asp2455=) c.7169A= (p.Asp2390=) n.8526A= n.8472A= n.8581A= | |
| 5 | g.37153757C>A | CA359473626 | CPLANE1 | n.1355G>T c.8356G>T (p.Asp2786Tyr) c.8194G>T (p.Asp2732Tyr) n.88G>T c.5368G>T (p.Asp1790Tyr) n.598G>T c.1470G>T c.5392G>T (p.Asp1798Tyr) c.8353G>T (p.Asp2785Tyr) c.8245G>T (p.Asp2749Tyr) c.8227G>T (p.Asp2743Tyr) c.4999G>T (p.Asp1667Tyr) c.2929G>T (p.Asp977Tyr) c.8302G>T (p.Asp2768Tyr) c.8248G>T (p.Asp2750Tyr) c.8038G>T (p.Asp2680Tyr) c.7684G>T (p.Asp2562Tyr) c.5581G>T (p.Asp1861Tyr) n.8531G>T c.8167G>T (p.Asp2723Tyr) c.7363G>T (p.Asp2455Tyr) c.7168G>T (p.Asp2390Tyr) n.8525G>T n.8471G>T n.8580G>T | gnomAD v4 |
| 5 | g.37153757C>G | CA359473627 | CPLANE1 | n.1355G>C c.8356G>C (p.Asp2786His) c.8194G>C (p.Asp2732His) n.88G>C c.5368G>C (p.Asp1790His) n.598G>C c.1470G>C c.5392G>C (p.Asp1798His) c.8353G>C (p.Asp2785His) c.8245G>C (p.Asp2749His) c.8227G>C (p.Asp2743His) c.4999G>C (p.Asp1667His) c.2929G>C (p.Asp977His) c.8302G>C (p.Asp2768His) c.8248G>C (p.Asp2750His) c.8038G>C (p.Asp2680His) c.7684G>C (p.Asp2562His) c.5581G>C (p.Asp1861His) n.8531G>C c.8167G>C (p.Asp2723His) c.7363G>C (p.Asp2455His) c.7168G>C (p.Asp2390His) n.8525G>C n.8471G>C n.8580G>C | |
| 5 | g.37153757C>T | CA359473628 | CPLANE1 | n.1355G>A c.8356G>A (p.Asp2786Asn) c.8194G>A (p.Asp2732Asn) n.88G>A c.5368G>A (p.Asp1790Asn) n.598G>A c.1470G>A c.5392G>A (p.Asp1798Asn) c.8353G>A (p.Asp2785Asn) c.8245G>A (p.Asp2749Asn) c.8227G>A (p.Asp2743Asn) c.4999G>A (p.Asp1667Asn) c.2929G>A (p.Asp977Asn) c.8302G>A (p.Asp2768Asn) c.8248G>A (p.Asp2750Asn) c.8038G>A (p.Asp2680Asn) c.7684G>A (p.Asp2562Asn) c.5581G>A (p.Asp1861Asn) n.8531G>A c.8167G>A (p.Asp2723Asn) c.7363G>A (p.Asp2455Asn) c.7168G>A (p.Asp2390Asn) n.8525G>A n.8471G>A n.8580G>A | |
| 5 | g.37153758T>A | CA444096594 | CPLANE1 | n.1354A>T c.8355A>T (p.Leu2785=) c.8193A>T (p.Leu2731=) n.87A>T c.5367A>T (p.Leu1789=) n.597A>T c.1469A>T c.5391A>T (p.Leu1797=) c.8352A>T (p.Leu2784=) c.8244A>T (p.Leu2748=) c.8226A>T (p.Leu2742=) c.4998A>T (p.Leu1666=) c.2928A>T (p.Leu976=) c.8301A>T (p.Leu2767=) c.8247A>T (p.Leu2749=) c.8037A>T (p.Leu2679=) c.7683A>T (p.Leu2561=) c.5580A>T (p.Leu1860=) n.8530A>T c.8166A>T (p.Leu2722=) c.7362A>T (p.Leu2454=) c.7167A>T (p.Leu2389=) n.8524A>T n.8470A>T n.8579A>T | |
| 5 | g.37153758T>C | CA444096595 | CPLANE1 | n.1354A>G c.8355A>G (p.Leu2785=) c.8193A>G (p.Leu2731=) n.87A>G c.5367A>G (p.Leu1789=) n.597A>G c.1469A>G c.5391A>G (p.Leu1797=) c.8352A>G (p.Leu2784=) c.8244A>G (p.Leu2748=) c.8226A>G (p.Leu2742=) c.4998A>G (p.Leu1666=) c.2928A>G (p.Leu976=) c.8301A>G (p.Leu2767=) c.8247A>G (p.Leu2749=) c.8037A>G (p.Leu2679=) c.7683A>G (p.Leu2561=) c.5580A>G (p.Leu1860=) n.8530A>G c.8166A>G (p.Leu2722=) c.7362A>G (p.Leu2454=) c.7167A>G (p.Leu2389=) n.8524A>G n.8470A>G n.8579A>G | |
| 5 | g.37153758T>G | CA444096596 | CPLANE1 | n.1354A>C c.8355A>C (p.Leu2785=) c.8193A>C (p.Leu2731=) n.87A>C c.5367A>C (p.Leu1789=) n.597A>C c.1469A>C c.5391A>C (p.Leu1797=) c.8352A>C (p.Leu2784=) c.8244A>C (p.Leu2748=) c.8226A>C (p.Leu2742=) c.4998A>C (p.Leu1666=) c.2928A>C (p.Leu976=) c.8301A>C (p.Leu2767=) c.8247A>C (p.Leu2749=) c.8037A>C (p.Leu2679=) c.7683A>C (p.Leu2561=) c.5580A>C (p.Leu1860=) n.8530A>C c.8166A>C (p.Leu2722=) c.7362A>C (p.Leu2454=) c.7167A>C (p.Leu2389=) n.8524A>C n.8470A>C n.8579A>C | |
| 5 | g.37153758_37153759insCGGTGGTCGCCGT | CA2765914092 | CPLANE1 | n.1354_1355insCGGCGACCACCGA c.8355_8356insCGGCGACCACCGA (p.Asp2786ArgfsTer9) c.8193_8194insCGGCGACCACCGA (p.Asp2732ArgfsTer9) n.87_88insCGGCGACCACCGA c.5367_5368insCGGCGACCACCGA (p.Asp1790ArgfsTer9) n.597_598insCGGCGACCACCGA c.1469_1470insCGGCGACCACCGA c.5391_5392insCGGCGACCACCGA (p.Asp1798ArgfsTer9) c.8352_8353insCGGCGACCACCGA (p.Asp2785ArgfsTer9) c.8244_8245insCGGCGACCACCGA (p.Asp2749ArgfsTer9) c.8226_8227insCGGCGACCACCGA (p.Asp2743ArgfsTer9) c.4998_4999insCGGCGACCACCGA (p.Asp1667ArgfsTer9) c.2928_2929insCGGCGACCACCGA (p.Asp977ArgfsTer9) c.8301_8302insCGGCGACCACCGA (p.Asp2768ArgfsTer9) c.8247_8248insCGGCGACCACCGA (p.Asp2750ArgfsTer9) c.8037_8038insCGGCGACCACCGA (p.Asp2680ArgfsTer9) c.7683_7684insCGGCGACCACCGA (p.Asp2562ArgfsTer9) c.5580_5581insCGGCGACCACCGA (p.Asp1861ArgfsTer9) n.8530_8531insCGGCGACCACCGA c.8166_8167insCGGCGACCACCGA (p.Asp2723ArgfsTer9) c.7362_7363insCGGCGACCACCGA (p.Asp2455ArgfsTer9) c.7167_7168insCGGCGACCACCGA (p.Asp2390ArgfsTer9) n.8524_8525insCGGCGACCACCGA n.8470_8471insCGGCGACCACCGA n.8579_8580insCGGCGACCACCGA | |
| 5 | g.37153759A>C | CA359473631 | CPLANE1 | n.1353T>G c.8354T>G (p.Leu2785Arg) c.8192T>G (p.Leu2731Arg) n.86T>G c.5366T>G (p.Leu1789Arg) n.596T>G c.1468T>G c.5390T>G (p.Leu1797Arg) c.8351T>G (p.Leu2784Arg) c.8243T>G (p.Leu2748Arg) c.8225T>G (p.Leu2742Arg) c.4997T>G (p.Leu1666Arg) c.2927T>G (p.Leu976Arg) c.8300T>G (p.Leu2767Arg) c.8246T>G (p.Leu2749Arg) c.8036T>G (p.Leu2679Arg) c.7682T>G (p.Leu2561Arg) c.5579T>G (p.Leu1860Arg) n.8529T>G c.8165T>G (p.Leu2722Arg) c.7361T>G (p.Leu2454Arg) c.7166T>G (p.Leu2389Arg) n.8523T>G n.8469T>G n.8578T>G | |
| 5 | g.37153759A>G | CA359473629 | CPLANE1 | n.1353T>C c.8354T>C (p.Leu2785Pro) c.8192T>C (p.Leu2731Pro) n.86T>C c.5366T>C (p.Leu1789Pro) n.596T>C c.1468T>C c.5390T>C (p.Leu1797Pro) c.8351T>C (p.Leu2784Pro) c.8243T>C (p.Leu2748Pro) c.8225T>C (p.Leu2742Pro) c.4997T>C (p.Leu1666Pro) c.2927T>C (p.Leu976Pro) c.8300T>C (p.Leu2767Pro) c.8246T>C (p.Leu2749Pro) c.8036T>C (p.Leu2679Pro) c.7682T>C (p.Leu2561Pro) c.5579T>C (p.Leu1860Pro) n.8529T>C c.8165T>C (p.Leu2722Pro) c.7361T>C (p.Leu2454Pro) c.7166T>C (p.Leu2389Pro) n.8523T>C n.8469T>C n.8578T>C | dbSNP |
| 5 | g.37153759A>T | CA359473630 | CPLANE1 | n.1353T>A c.8354T>A (p.Leu2785Gln) c.8192T>A (p.Leu2731Gln) n.86T>A c.5366T>A (p.Leu1789Gln) n.596T>A c.1468T>A c.5390T>A (p.Leu1797Gln) c.8351T>A (p.Leu2784Gln) c.8243T>A (p.Leu2748Gln) c.8225T>A (p.Leu2742Gln) c.4997T>A (p.Leu1666Gln) c.2927T>A (p.Leu976Gln) c.8300T>A (p.Leu2767Gln) c.8246T>A (p.Leu2749Gln) c.8036T>A (p.Leu2679Gln) c.7682T>A (p.Leu2561Gln) c.5579T>A (p.Leu1860Gln) n.8529T>A c.8165T>A (p.Leu2722Gln) c.7361T>A (p.Leu2454Gln) c.7166T>A (p.Leu2389Gln) n.8523T>A n.8469T>A n.8578T>A | |
| 5 | g.37153760G>A | CA444096597 | CPLANE1 | n.1352C>T c.8353C>T (p.Leu2785=) c.8191C>T (p.Leu2731=) n.85C>T c.5365C>T (p.Leu1789=) n.595C>T c.1467C>T c.5389C>T (p.Leu1797=) c.8350C>T (p.Leu2784=) c.8242C>T (p.Leu2748=) c.8224C>T (p.Leu2742=) c.4996C>T (p.Leu1666=) c.2926C>T (p.Leu976=) c.8299C>T (p.Leu2767=) c.8245C>T (p.Leu2749=) c.8035C>T (p.Leu2679=) c.7681C>T (p.Leu2561=) c.5578C>T (p.Leu1860=) n.8528C>T c.8164C>T (p.Leu2722=) c.7360C>T (p.Leu2454=) c.7165C>T (p.Leu2389=) n.8522C>T n.8468C>T n.8577C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37153760G>C | CA3237820 | CPLANE1 | n.1352C>G c.8353C>G (p.Leu2785Val) c.8191C>G (p.Leu2731Val) n.85C>G c.5365C>G (p.Leu1789Val) n.595C>G c.1467C>G c.5389C>G (p.Leu1797Val) c.8350C>G (p.Leu2784Val) c.8242C>G (p.Leu2748Val) c.8224C>G (p.Leu2742Val) c.4996C>G (p.Leu1666Val) c.2926C>G (p.Leu976Val) c.8299C>G (p.Leu2767Val) c.8245C>G (p.Leu2749Val) c.8035C>G (p.Leu2679Val) c.7681C>G (p.Leu2561Val) c.5578C>G (p.Leu1860Val) n.8528C>G c.8164C>G (p.Leu2722Val) c.7360C>G (p.Leu2454Val) c.7165C>G (p.Leu2389Val) n.8522C>G n.8468C>G n.8577C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37153760G= | CA1539650953 | CPLANE1 | n.1352C= c.8353C= (p.Leu2785=) c.8191C= (p.Leu2731=) n.85C= c.5365C= (p.Leu1789=) n.595C= c.1467C= c.5389C= (p.Leu1797=) c.8350C= (p.Leu2784=) c.8242C= (p.Leu2748=) c.8224C= (p.Leu2742=) c.4996C= (p.Leu1666=) c.2926C= (p.Leu976=) c.8299C= (p.Leu2767=) c.8245C= (p.Leu2749=) c.8035C= (p.Leu2679=) c.7681C= (p.Leu2561=) c.5578C= (p.Leu1860=) n.8528C= c.8164C= (p.Leu2722=) c.7360C= (p.Leu2454=) c.7165C= (p.Leu2389=) n.8522C= n.8468C= n.8577C= | |
| 5 | g.37153760G>T | CA359473632 | CPLANE1 | n.1352C>A c.8353C>A (p.Leu2785Ile) c.8191C>A (p.Leu2731Ile) n.85C>A c.5365C>A (p.Leu1789Ile) n.595C>A c.1467C>A c.5389C>A (p.Leu1797Ile) c.8350C>A (p.Leu2784Ile) c.8242C>A (p.Leu2748Ile) c.8224C>A (p.Leu2742Ile) c.4996C>A (p.Leu1666Ile) c.2926C>A (p.Leu976Ile) c.8299C>A (p.Leu2767Ile) c.8245C>A (p.Leu2749Ile) c.8035C>A (p.Leu2679Ile) c.7681C>A (p.Leu2561Ile) c.5578C>A (p.Leu1860Ile) n.8528C>A c.8164C>A (p.Leu2722Ile) c.7360C>A (p.Leu2454Ile) c.7165C>A (p.Leu2389Ile) n.8522C>A n.8468C>A n.8577C>A | gnomAD v4 |
| 5 | g.37153761C>A | CA359473633 | CPLANE1 | n.1351G>T c.8352G>T (p.Met2784Ile) c.8190G>T (p.Met2730Ile) n.84G>T c.5364G>T (p.Met1788Ile) n.594G>T c.1466G>T c.5388G>T (p.Met1796Ile) c.8349G>T (p.Met2783Ile) c.8241G>T (p.Met2747Ile) c.8223G>T (p.Met2741Ile) c.4995G>T (p.Met1665Ile) c.2925G>T (p.Met975Ile) c.8298G>T (p.Met2766Ile) c.8244G>T (p.Met2748Ile) c.8034G>T (p.Met2678Ile) c.7680G>T (p.Met2560Ile) c.5577G>T (p.Met1859Ile) n.8527G>T c.8163G>T (p.Met2721Ile) c.7359G>T (p.Met2453Ile) c.7164G>T (p.Met2388Ile) n.8521G>T n.8467G>T n.8576G>T | |
| 5 | g.37153761C= | CA1539650958 | CPLANE1 | n.1351G= c.8352G= (p.Met2784=) c.8190G= (p.Met2730=) n.84G= c.5364G= (p.Met1788=) n.594G= c.1466G= c.5388G= (p.Met1796=) c.8349G= (p.Met2783=) c.8241G= (p.Met2747=) c.8223G= (p.Met2741=) c.4995G= (p.Met1665=) c.2925G= (p.Met975=) c.8298G= (p.Met2766=) c.8244G= (p.Met2748=) c.8034G= (p.Met2678=) c.7680G= (p.Met2560=) c.5577G= (p.Met1859=) n.8527G= c.8163G= (p.Met2721=) c.7359G= (p.Met2453=) c.7164G= (p.Met2388=) n.8521G= n.8467G= n.8576G= | |
| 5 | g.37153761C>G | CA359473634 | CPLANE1 | n.1351G>C c.8352G>C (p.Met2784Ile) c.8190G>C (p.Met2730Ile) n.84G>C c.5364G>C (p.Met1788Ile) n.594G>C c.1466G>C c.5388G>C (p.Met1796Ile) c.8349G>C (p.Met2783Ile) c.8241G>C (p.Met2747Ile) c.8223G>C (p.Met2741Ile) c.4995G>C (p.Met1665Ile) c.2925G>C (p.Met975Ile) c.8298G>C (p.Met2766Ile) c.8244G>C (p.Met2748Ile) c.8034G>C (p.Met2678Ile) c.7680G>C (p.Met2560Ile) c.5577G>C (p.Met1859Ile) n.8527G>C c.8163G>C (p.Met2721Ile) c.7359G>C (p.Met2453Ile) c.7164G>C (p.Met2388Ile) n.8521G>C n.8467G>C n.8576G>C | |
| 5 | g.37153761C>T | CA3237821 | CPLANE1 | n.1351G>A c.8352G>A (p.Met2784Ile) c.8190G>A (p.Met2730Ile) n.84G>A c.5364G>A (p.Met1788Ile) n.594G>A c.1466G>A c.5388G>A (p.Met1796Ile) c.8349G>A (p.Met2783Ile) c.8241G>A (p.Met2747Ile) c.8223G>A (p.Met2741Ile) c.4995G>A (p.Met1665Ile) c.2925G>A (p.Met975Ile) c.8298G>A (p.Met2766Ile) c.8244G>A (p.Met2748Ile) c.8034G>A (p.Met2678Ile) c.7680G>A (p.Met2560Ile) c.5577G>A (p.Met1859Ile) n.8527G>A c.8163G>A (p.Met2721Ile) c.7359G>A (p.Met2453Ile) c.7164G>A (p.Met2388Ile) n.8521G>A n.8467G>A n.8576G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37153762A>C | CA359473635 | CPLANE1 | n.1350T>G c.8351T>G (p.Met2784Arg) c.8189T>G (p.Met2730Arg) n.83T>G c.5363T>G (p.Met1788Arg) n.593T>G c.1465T>G c.5387T>G (p.Met1796Arg) c.8348T>G (p.Met2783Arg) c.8240T>G (p.Met2747Arg) c.8222T>G (p.Met2741Arg) c.4994T>G (p.Met1665Arg) c.2924T>G (p.Met975Arg) c.8297T>G (p.Met2766Arg) c.8243T>G (p.Met2748Arg) c.8033T>G (p.Met2678Arg) c.7679T>G (p.Met2560Arg) c.5576T>G (p.Met1859Arg) n.8526T>G c.8162T>G (p.Met2721Arg) c.7358T>G (p.Met2453Arg) c.7163T>G (p.Met2388Arg) n.8520T>G n.8466T>G n.8575T>G | |
| 5 | g.37153762A>G | CA359473637 | CPLANE1 | n.1350T>C c.8351T>C (p.Met2784Thr) c.8189T>C (p.Met2730Thr) n.83T>C c.5363T>C (p.Met1788Thr) n.593T>C c.1465T>C c.5387T>C (p.Met1796Thr) c.8348T>C (p.Met2783Thr) c.8240T>C (p.Met2747Thr) c.8222T>C (p.Met2741Thr) c.4994T>C (p.Met1665Thr) c.2924T>C (p.Met975Thr) c.8297T>C (p.Met2766Thr) c.8243T>C (p.Met2748Thr) c.8033T>C (p.Met2678Thr) c.7679T>C (p.Met2560Thr) c.5576T>C (p.Met1859Thr) n.8526T>C c.8162T>C (p.Met2721Thr) c.7358T>C (p.Met2453Thr) c.7163T>C (p.Met2388Thr) n.8520T>C n.8466T>C n.8575T>C | |
| 5 | g.37153762A>T | CA359473636 | CPLANE1 | n.1350T>A c.8351T>A (p.Met2784Lys) c.8189T>A (p.Met2730Lys) n.83T>A c.5363T>A (p.Met1788Lys) n.593T>A c.1465T>A c.5387T>A (p.Met1796Lys) c.8348T>A (p.Met2783Lys) c.8240T>A (p.Met2747Lys) c.8222T>A (p.Met2741Lys) c.4994T>A (p.Met1665Lys) c.2924T>A (p.Met975Lys) c.8297T>A (p.Met2766Lys) c.8243T>A (p.Met2748Lys) c.8033T>A (p.Met2678Lys) c.7679T>A (p.Met2560Lys) c.5576T>A (p.Met1859Lys) n.8526T>A c.8162T>A (p.Met2721Lys) c.7358T>A (p.Met2453Lys) c.7163T>A (p.Met2388Lys) n.8520T>A n.8466T>A n.8575T>A | |
| 5 | g.37153763T>A | CA359473638 | CPLANE1 | n.1349A>T c.8350A>T (p.Met2784Leu) c.8188A>T (p.Met2730Leu) n.82A>T c.5362A>T (p.Met1788Leu) n.592A>T c.1464A>T c.5386A>T (p.Met1796Leu) c.8347A>T (p.Met2783Leu) c.8239A>T (p.Met2747Leu) c.8221A>T (p.Met2741Leu) c.4993A>T (p.Met1665Leu) c.2923A>T (p.Met975Leu) c.8296A>T (p.Met2766Leu) c.8242A>T (p.Met2748Leu) c.8032A>T (p.Met2678Leu) c.7678A>T (p.Met2560Leu) c.5575A>T (p.Met1859Leu) n.8525A>T c.8161A>T (p.Met2721Leu) c.7357A>T (p.Met2453Leu) c.7162A>T (p.Met2388Leu) n.8519A>T n.8465A>T n.8574A>T | dbSNP |
| 5 | g.37153763T>C | CA359473639 | CPLANE1 | n.1349A>G c.8350A>G (p.Met2784Val) c.8188A>G (p.Met2730Val) n.82A>G c.5362A>G (p.Met1788Val) n.592A>G c.1464A>G c.5386A>G (p.Met1796Val) c.8347A>G (p.Met2783Val) c.8239A>G (p.Met2747Val) c.8221A>G (p.Met2741Val) c.4993A>G (p.Met1665Val) c.2923A>G (p.Met975Val) c.8296A>G (p.Met2766Val) c.8242A>G (p.Met2748Val) c.8032A>G (p.Met2678Val) c.7678A>G (p.Met2560Val) c.5575A>G (p.Met1859Val) n.8525A>G c.8161A>G (p.Met2721Val) c.7357A>G (p.Met2453Val) c.7162A>G (p.Met2388Val) n.8519A>G n.8465A>G n.8574A>G | |
| 5 | g.37153763T>G | CA359473640 | CPLANE1 | n.1349A>C c.8350A>C (p.Met2784Leu) c.8188A>C (p.Met2730Leu) n.82A>C c.5362A>C (p.Met1788Leu) n.592A>C c.1464A>C c.5386A>C (p.Met1796Leu) c.8347A>C (p.Met2783Leu) c.8239A>C (p.Met2747Leu) c.8221A>C (p.Met2741Leu) c.4993A>C (p.Met1665Leu) c.2923A>C (p.Met975Leu) c.8296A>C (p.Met2766Leu) c.8242A>C (p.Met2748Leu) c.8032A>C (p.Met2678Leu) c.7678A>C (p.Met2560Leu) c.5575A>C (p.Met1859Leu) n.8525A>C c.8161A>C (p.Met2721Leu) c.7357A>C (p.Met2453Leu) c.7162A>C (p.Met2388Leu) n.8519A>C n.8465A>C n.8574A>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37153764T>A | CA359473641 | CPLANE1 | n.1348A>T c.8349A>T (p.Glu2783Asp) c.8187A>T (p.Glu2729Asp) n.81A>T c.5361A>T (p.Glu1787Asp) n.591A>T c.1463A>T c.5385A>T (p.Glu1795Asp) c.8346A>T (p.Glu2782Asp) c.8238A>T (p.Glu2746Asp) c.8220A>T (p.Glu2740Asp) c.4992A>T (p.Glu1664Asp) c.2922A>T (p.Glu974Asp) c.8295A>T (p.Glu2765Asp) c.8241A>T (p.Glu2747Asp) c.8031A>T (p.Glu2677Asp) c.7677A>T (p.Glu2559Asp) c.5574A>T (p.Glu1858Asp) n.8524A>T c.8160A>T (p.Glu2720Asp) c.7356A>T (p.Glu2452Asp) c.7161A>T (p.Glu2387Asp) n.8518A>T n.8464A>T n.8573A>T | |
| 5 | g.37153764T>C | CA444096599 | CPLANE1 | n.1348A>G c.8349A>G (p.Glu2783=) c.8187A>G (p.Glu2729=) n.81A>G c.5361A>G (p.Glu1787=) n.591A>G c.1463A>G c.5385A>G (p.Glu1795=) c.8346A>G (p.Glu2782=) c.8238A>G (p.Glu2746=) c.8220A>G (p.Glu2740=) c.4992A>G (p.Glu1664=) c.2922A>G (p.Glu974=) c.8295A>G (p.Glu2765=) c.8241A>G (p.Glu2747=) c.8031A>G (p.Glu2677=) c.7677A>G (p.Glu2559=) c.5574A>G (p.Glu1858=) n.8524A>G c.8160A>G (p.Glu2720=) c.7356A>G (p.Glu2452=) c.7161A>G (p.Glu2387=) n.8518A>G n.8464A>G n.8573A>G | |
| 5 | g.37153764T>G | CA359473642 | CPLANE1 | n.1348A>C c.8349A>C (p.Glu2783Asp) c.8187A>C (p.Glu2729Asp) n.81A>C c.5361A>C (p.Glu1787Asp) n.591A>C c.1463A>C c.5385A>C (p.Glu1795Asp) c.8346A>C (p.Glu2782Asp) c.8238A>C (p.Glu2746Asp) c.8220A>C (p.Glu2740Asp) c.4992A>C (p.Glu1664Asp) c.2922A>C (p.Glu974Asp) c.8295A>C (p.Glu2765Asp) c.8241A>C (p.Glu2747Asp) c.8031A>C (p.Glu2677Asp) c.7677A>C (p.Glu2559Asp) c.5574A>C (p.Glu1858Asp) n.8524A>C c.8160A>C (p.Glu2720Asp) c.7356A>C (p.Glu2452Asp) c.7161A>C (p.Glu2387Asp) n.8518A>C n.8464A>C n.8573A>C | |
| 5 | g.37153765T>A | CA359473643 | CPLANE1 | n.1347A>T c.8348A>T (p.Glu2783Val) c.8186A>T (p.Glu2729Val) n.80A>T c.5360A>T (p.Glu1787Val) n.590A>T c.1462A>T c.5384A>T (p.Glu1795Val) c.8345A>T (p.Glu2782Val) c.8237A>T (p.Glu2746Val) c.8219A>T (p.Glu2740Val) c.4991A>T (p.Glu1664Val) c.2921A>T (p.Glu974Val) c.8294A>T (p.Glu2765Val) c.8240A>T (p.Glu2747Val) c.8030A>T (p.Glu2677Val) c.7676A>T (p.Glu2559Val) c.5573A>T (p.Glu1858Val) n.8523A>T c.8159A>T (p.Glu2720Val) c.7355A>T (p.Glu2452Val) c.7160A>T (p.Glu2387Val) n.8517A>T n.8463A>T n.8572A>T | gnomAD v4 |
| 5 | g.37153765T>C | CA359473644 | CPLANE1 | n.1347A>G c.8348A>G (p.Glu2783Gly) c.8186A>G (p.Glu2729Gly) n.80A>G c.5360A>G (p.Glu1787Gly) n.590A>G c.1462A>G c.5384A>G (p.Glu1795Gly) c.8345A>G (p.Glu2782Gly) c.8237A>G (p.Glu2746Gly) c.8219A>G (p.Glu2740Gly) c.4991A>G (p.Glu1664Gly) c.2921A>G (p.Glu974Gly) c.8294A>G (p.Glu2765Gly) c.8240A>G (p.Glu2747Gly) c.8030A>G (p.Glu2677Gly) c.7676A>G (p.Glu2559Gly) c.5573A>G (p.Glu1858Gly) n.8523A>G c.8159A>G (p.Glu2720Gly) c.7355A>G (p.Glu2452Gly) c.7160A>G (p.Glu2387Gly) n.8517A>G n.8463A>G n.8572A>G | |
| 5 | g.37153765T>G | CA359473645 | CPLANE1 | n.1347A>C c.8348A>C (p.Glu2783Ala) c.8186A>C (p.Glu2729Ala) n.80A>C c.5360A>C (p.Glu1787Ala) n.590A>C c.1462A>C c.5384A>C (p.Glu1795Ala) c.8345A>C (p.Glu2782Ala) c.8237A>C (p.Glu2746Ala) c.8219A>C (p.Glu2740Ala) c.4991A>C (p.Glu1664Ala) c.2921A>C (p.Glu974Ala) c.8294A>C (p.Glu2765Ala) c.8240A>C (p.Glu2747Ala) c.8030A>C (p.Glu2677Ala) c.7676A>C (p.Glu2559Ala) c.5573A>C (p.Glu1858Ala) n.8523A>C c.8159A>C (p.Glu2720Ala) c.7355A>C (p.Glu2452Ala) c.7160A>C (p.Glu2387Ala) n.8517A>C n.8463A>C n.8572A>C | |
| 5 | g.37153766C>A | CA359473646 | CPLANE1 | n.1346G>T c.8347G>T (p.Glu2783Ter) c.8185G>T (p.Glu2729Ter) n.79G>T c.5359G>T (p.Glu1787Ter) n.589G>T c.1461G>T c.5383G>T (p.Glu1795Ter) c.8344G>T (p.Glu2782Ter) c.8236G>T (p.Glu2746Ter) c.8218G>T (p.Glu2740Ter) c.4990G>T (p.Glu1664Ter) c.2920G>T (p.Glu974Ter) c.8293G>T (p.Glu2765Ter) c.8239G>T (p.Glu2747Ter) c.8029G>T (p.Glu2677Ter) c.7675G>T (p.Glu2559Ter) c.5572G>T (p.Glu1858Ter) n.8522G>T c.8158G>T (p.Glu2720Ter) c.7354G>T (p.Glu2452Ter) c.7159G>T (p.Glu2387Ter) n.8516G>T n.8462G>T n.8571G>T | |
| 5 | g.37153766C>G | CA359473647 | CPLANE1 | n.1346G>C c.8347G>C (p.Glu2783Gln) c.8185G>C (p.Glu2729Gln) n.79G>C c.5359G>C (p.Glu1787Gln) n.589G>C c.1461G>C c.5383G>C (p.Glu1795Gln) c.8344G>C (p.Glu2782Gln) c.8236G>C (p.Glu2746Gln) c.8218G>C (p.Glu2740Gln) c.4990G>C (p.Glu1664Gln) c.2920G>C (p.Glu974Gln) c.8293G>C (p.Glu2765Gln) c.8239G>C (p.Glu2747Gln) c.8029G>C (p.Glu2677Gln) c.7675G>C (p.Glu2559Gln) c.5572G>C (p.Glu1858Gln) n.8522G>C c.8158G>C (p.Glu2720Gln) c.7354G>C (p.Glu2452Gln) c.7159G>C (p.Glu2387Gln) n.8516G>C n.8462G>C n.8571G>C | |
| 5 | g.37153766C>T | CA359473648 | CPLANE1 | n.1346G>A c.8347G>A (p.Glu2783Lys) c.8185G>A (p.Glu2729Lys) n.79G>A c.5359G>A (p.Glu1787Lys) n.589G>A c.1461G>A c.5383G>A (p.Glu1795Lys) c.8344G>A (p.Glu2782Lys) c.8236G>A (p.Glu2746Lys) c.8218G>A (p.Glu2740Lys) c.4990G>A (p.Glu1664Lys) c.2920G>A (p.Glu974Lys) c.8293G>A (p.Glu2765Lys) c.8239G>A (p.Glu2747Lys) c.8029G>A (p.Glu2677Lys) c.7675G>A (p.Glu2559Lys) c.5572G>A (p.Glu1858Lys) n.8522G>A c.8158G>A (p.Glu2720Lys) c.7354G>A (p.Glu2452Lys) c.7159G>A (p.Glu2387Lys) n.8516G>A n.8462G>A n.8571G>A | |
| 5 | g.37153767A>C | CA444096601 | CPLANE1 | n.1345T>G c.8346T>G (p.Pro2782=) c.8184T>G (p.Pro2728=) n.78T>G c.5358T>G (p.Pro1786=) n.588T>G c.1460T>G c.5382T>G (p.Pro1794=) c.8343T>G (p.Pro2781=) c.8235T>G (p.Pro2745=) c.8217T>G (p.Pro2739=) c.4989T>G (p.Pro1663=) c.2919T>G (p.Pro973=) c.8292T>G (p.Pro2764=) c.8238T>G (p.Pro2746=) c.8028T>G (p.Pro2676=) c.7674T>G (p.Pro2558=) c.5571T>G (p.Pro1857=) n.8521T>G c.8157T>G (p.Pro2719=) c.7353T>G (p.Pro2451=) c.7158T>G (p.Pro2386=) n.8515T>G n.8461T>G n.8570T>G | |
| 5 | g.37153767A>G | CA444096602 | CPLANE1 | n.1345T>C c.8346T>C (p.Pro2782=) c.8184T>C (p.Pro2728=) n.78T>C c.5358T>C (p.Pro1786=) n.588T>C c.1460T>C c.5382T>C (p.Pro1794=) c.8343T>C (p.Pro2781=) c.8235T>C (p.Pro2745=) c.8217T>C (p.Pro2739=) c.4989T>C (p.Pro1663=) c.2919T>C (p.Pro973=) c.8292T>C (p.Pro2764=) c.8238T>C (p.Pro2746=) c.8028T>C (p.Pro2676=) c.7674T>C (p.Pro2558=) c.5571T>C (p.Pro1857=) n.8521T>C c.8157T>C (p.Pro2719=) c.7353T>C (p.Pro2451=) c.7158T>C (p.Pro2386=) n.8515T>C n.8461T>C n.8570T>C | |
| 5 | g.37153767A>T | CA444096604 | CPLANE1 | n.1345T>A c.8346T>A (p.Pro2782=) c.8184T>A (p.Pro2728=) n.78T>A c.5358T>A (p.Pro1786=) n.588T>A c.1460T>A c.5382T>A (p.Pro1794=) c.8343T>A (p.Pro2781=) c.8235T>A (p.Pro2745=) c.8217T>A (p.Pro2739=) c.4989T>A (p.Pro1663=) c.2919T>A (p.Pro973=) c.8292T>A (p.Pro2764=) c.8238T>A (p.Pro2746=) c.8028T>A (p.Pro2676=) c.7674T>A (p.Pro2558=) c.5571T>A (p.Pro1857=) n.8521T>A c.8157T>A (p.Pro2719=) c.7353T>A (p.Pro2451=) c.7158T>A (p.Pro2386=) n.8515T>A n.8461T>A n.8570T>A | |
| 5 | g.37153768G>A | CA359473649 | CPLANE1 | n.1344C>T c.8345C>T (p.Pro2782Leu) c.8183C>T (p.Pro2728Leu) n.77C>T c.5357C>T (p.Pro1786Leu) n.587C>T c.1459C>T c.5381C>T (p.Pro1794Leu) c.8342C>T (p.Pro2781Leu) c.8234C>T (p.Pro2745Leu) c.8216C>T (p.Pro2739Leu) c.4988C>T (p.Pro1663Leu) c.2918C>T (p.Pro973Leu) c.8291C>T (p.Pro2764Leu) c.8237C>T (p.Pro2746Leu) c.8027C>T (p.Pro2676Leu) c.7673C>T (p.Pro2558Leu) c.5570C>T (p.Pro1857Leu) n.8520C>T c.8156C>T (p.Pro2719Leu) c.7352C>T (p.Pro2451Leu) c.7157C>T (p.Pro2386Leu) n.8514C>T n.8460C>T n.8569C>T | |
| 5 | g.37153768G>C | CA359473651 | CPLANE1 | n.1344C>G c.8345C>G (p.Pro2782Arg) c.8183C>G (p.Pro2728Arg) n.77C>G c.5357C>G (p.Pro1786Arg) n.587C>G c.1459C>G c.5381C>G (p.Pro1794Arg) c.8342C>G (p.Pro2781Arg) c.8234C>G (p.Pro2745Arg) c.8216C>G (p.Pro2739Arg) c.4988C>G (p.Pro1663Arg) c.2918C>G (p.Pro973Arg) c.8291C>G (p.Pro2764Arg) c.8237C>G (p.Pro2746Arg) c.8027C>G (p.Pro2676Arg) c.7673C>G (p.Pro2558Arg) c.5570C>G (p.Pro1857Arg) n.8520C>G c.8156C>G (p.Pro2719Arg) c.7352C>G (p.Pro2451Arg) c.7157C>G (p.Pro2386Arg) n.8514C>G n.8460C>G n.8569C>G | gnomAD v4 |
| 5 | g.37153768G>T | CA359473650 | CPLANE1 | n.1344C>A c.8345C>A (p.Pro2782His) c.8183C>A (p.Pro2728His) n.77C>A c.5357C>A (p.Pro1786His) n.587C>A c.1459C>A c.5381C>A (p.Pro1794His) c.8342C>A (p.Pro2781His) c.8234C>A (p.Pro2745His) c.8216C>A (p.Pro2739His) c.4988C>A (p.Pro1663His) c.2918C>A (p.Pro973His) c.8291C>A (p.Pro2764His) c.8237C>A (p.Pro2746His) c.8027C>A (p.Pro2676His) c.7673C>A (p.Pro2558His) c.5570C>A (p.Pro1857His) n.8520C>A c.8156C>A (p.Pro2719His) c.7352C>A (p.Pro2451His) c.7157C>A (p.Pro2386His) n.8514C>A n.8460C>A n.8569C>A | |
| 5 | g.37153768_37153776del | CA2765914093 | CPLANE1 | n.1336_1344del c.8337_8345del (p.Pro2780_Pro2782del) c.8175_8183del (p.Pro2726_Pro2728del) n.69_77del c.5349_5357del (p.Pro1784_Pro1786del) n.579_587del c.1451_1459del c.5373_5381del (p.Pro1792_Pro1794del) c.8334_8342del (p.Pro2779_Pro2781del) c.8226_8234del (p.Pro2743_Pro2745del) c.8208_8216del (p.Pro2737_Pro2739del) c.4980_4988del (p.Pro1661_Pro1663del) c.2910_2918del (p.Pro971_Pro973del) c.8283_8291del (p.Pro2762_Pro2764del) c.8229_8237del (p.Pro2744_Pro2746del) c.8019_8027del (p.Pro2674_Pro2676del) c.7665_7673del (p.Pro2556_Pro2558del) c.5562_5570del (p.Pro1855_Pro1857del) n.8512_8520del c.8148_8156del (p.Pro2717_Pro2719del) c.7344_7352del (p.Pro2449_Pro2451del) c.7149_7157del (p.Pro2384_Pro2386del) n.8506_8514del n.8452_8460del n.8561_8569del | |
| 5 | g.37153769G>A | CA359473652 | CPLANE1 | n.1343C>T c.8344C>T (p.Pro2782Ser) c.8182C>T (p.Pro2728Ser) n.76C>T c.5356C>T (p.Pro1786Ser) n.586C>T c.1458C>T c.5380C>T (p.Pro1794Ser) c.8341C>T (p.Pro2781Ser) c.8233C>T (p.Pro2745Ser) c.8215C>T (p.Pro2739Ser) c.4987C>T (p.Pro1663Ser) c.2917C>T (p.Pro973Ser) c.8290C>T (p.Pro2764Ser) c.8236C>T (p.Pro2746Ser) c.8026C>T (p.Pro2676Ser) c.7672C>T (p.Pro2558Ser) c.5569C>T (p.Pro1857Ser) n.8519C>T c.8155C>T (p.Pro2719Ser) c.7351C>T (p.Pro2451Ser) c.7156C>T (p.Pro2386Ser) n.8513C>T n.8459C>T n.8568C>T | |
| 5 | g.37153769G>C | CA359473653 | CPLANE1 | n.1343C>G c.8344C>G (p.Pro2782Ala) c.8182C>G (p.Pro2728Ala) n.76C>G c.5356C>G (p.Pro1786Ala) n.586C>G c.1458C>G c.5380C>G (p.Pro1794Ala) c.8341C>G (p.Pro2781Ala) c.8233C>G (p.Pro2745Ala) c.8215C>G (p.Pro2739Ala) c.4987C>G (p.Pro1663Ala) c.2917C>G (p.Pro973Ala) c.8290C>G (p.Pro2764Ala) c.8236C>G (p.Pro2746Ala) c.8026C>G (p.Pro2676Ala) c.7672C>G (p.Pro2558Ala) c.5569C>G (p.Pro1857Ala) n.8519C>G c.8155C>G (p.Pro2719Ala) c.7351C>G (p.Pro2451Ala) c.7156C>G (p.Pro2386Ala) n.8513C>G n.8459C>G n.8568C>G | |
| 5 | g.37153769G= | CA1539650967 | CPLANE1 | n.1343C= c.8344C= (p.Pro2782=) c.8182C= (p.Pro2728=) n.76C= c.5356C= (p.Pro1786=) n.586C= c.1458C= c.5380C= (p.Pro1794=) c.8341C= (p.Pro2781=) c.8233C= (p.Pro2745=) c.8215C= (p.Pro2739=) c.4987C= (p.Pro1663=) c.2917C= (p.Pro973=) c.8290C= (p.Pro2764=) c.8236C= (p.Pro2746=) c.8026C= (p.Pro2676=) c.7672C= (p.Pro2558=) c.5569C= (p.Pro1857=) n.8519C= c.8155C= (p.Pro2719=) c.7351C= (p.Pro2451=) c.7156C= (p.Pro2386=) n.8513C= n.8459C= n.8568C= | |
| 5 | g.37153769G>T | CA171466 | CPLANE1 | n.1343C>A c.8344C>A (p.Pro2782Thr) c.8182C>A (p.Pro2728Thr) n.76C>A c.5356C>A (p.Pro1786Thr) n.586C>A c.1458C>A c.5380C>A (p.Pro1794Thr) c.8341C>A (p.Pro2781Thr) c.8233C>A (p.Pro2745Thr) c.8215C>A (p.Pro2739Thr) c.4987C>A (p.Pro1663Thr) c.2917C>A (p.Pro973Thr) c.8290C>A (p.Pro2764Thr) c.8236C>A (p.Pro2746Thr) c.8026C>A (p.Pro2676Thr) c.7672C>A (p.Pro2558Thr) c.5569C>A (p.Pro1857Thr) n.8519C>A c.8155C>A (p.Pro2719Thr) c.7351C>A (p.Pro2451Thr) c.7156C>A (p.Pro2386Thr) n.8513C>A n.8459C>A n.8568C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37153770C>A | CA359473654 | CPLANE1 | n.1342G>T c.8343G>T (p.Lys2781Asn) c.8181G>T (p.Lys2727Asn) n.75G>T c.5355G>T (p.Lys1785Asn) n.585G>T c.1457G>T c.5379G>T (p.Lys1793Asn) c.8340G>T (p.Lys2780Asn) c.8232G>T (p.Lys2744Asn) c.8214G>T (p.Lys2738Asn) c.4986G>T (p.Lys1662Asn) c.2916G>T (p.Lys972Asn) c.8289G>T (p.Lys2763Asn) c.8235G>T (p.Lys2745Asn) c.8025G>T (p.Lys2675Asn) c.7671G>T (p.Lys2557Asn) c.5568G>T (p.Lys1856Asn) n.8518G>T c.8154G>T (p.Lys2718Asn) c.7350G>T (p.Lys2450Asn) c.7155G>T (p.Lys2385Asn) n.8512G>T n.8458G>T n.8567G>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37153770C= | CA1539650975 | CPLANE1 | n.1342G= c.8343G= (p.Lys2781=) c.8181G= (p.Lys2727=) n.75G= c.5355G= (p.Lys1785=) n.585G= c.1457G= c.5379G= (p.Lys1793=) c.8340G= (p.Lys2780=) c.8232G= (p.Lys2744=) c.8214G= (p.Lys2738=) c.4986G= (p.Lys1662=) c.2916G= (p.Lys972=) c.8289G= (p.Lys2763=) c.8235G= (p.Lys2745=) c.8025G= (p.Lys2675=) c.7671G= (p.Lys2557=) c.5568G= (p.Lys1856=) n.8518G= c.8154G= (p.Lys2718=) c.7350G= (p.Lys2450=) c.7155G= (p.Lys2385=) n.8512G= n.8458G= n.8567G= | |
| 5 | g.37153770C>G | CA359473655 | CPLANE1 | n.1342G>C c.8343G>C (p.Lys2781Asn) c.8181G>C (p.Lys2727Asn) n.75G>C c.5355G>C (p.Lys1785Asn) n.585G>C c.1457G>C c.5379G>C (p.Lys1793Asn) c.8340G>C (p.Lys2780Asn) c.8232G>C (p.Lys2744Asn) c.8214G>C (p.Lys2738Asn) c.4986G>C (p.Lys1662Asn) c.2916G>C (p.Lys972Asn) c.8289G>C (p.Lys2763Asn) c.8235G>C (p.Lys2745Asn) c.8025G>C (p.Lys2675Asn) c.7671G>C (p.Lys2557Asn) c.5568G>C (p.Lys1856Asn) n.8518G>C c.8154G>C (p.Lys2718Asn) c.7350G>C (p.Lys2450Asn) c.7155G>C (p.Lys2385Asn) n.8512G>C n.8458G>C n.8567G>C | |
| 5 | g.37153770C>T | CA444096605 | CPLANE1 | n.1342G>A c.8343G>A (p.Lys2781=) c.8181G>A (p.Lys2727=) n.75G>A c.5355G>A (p.Lys1785=) n.585G>A c.1457G>A c.5379G>A (p.Lys1793=) c.8340G>A (p.Lys2780=) c.8232G>A (p.Lys2744=) c.8214G>A (p.Lys2738=) c.4986G>A (p.Lys1662=) c.2916G>A (p.Lys972=) c.8289G>A (p.Lys2763=) c.8235G>A (p.Lys2745=) c.8025G>A (p.Lys2675=) c.7671G>A (p.Lys2557=) c.5568G>A (p.Lys1856=) n.8518G>A c.8154G>A (p.Lys2718=) c.7350G>A (p.Lys2450=) c.7155G>A (p.Lys2385=) n.8512G>A n.8458G>A n.8567G>A | gnomAD v4 |
| 5 | g.37153771T>A | CA359473656 | CPLANE1 | n.1341A>T c.8342A>T (p.Lys2781Met) c.8180A>T (p.Lys2727Met) n.74A>T c.5354A>T (p.Lys1785Met) n.584A>T c.1456A>T c.5378A>T (p.Lys1793Met) c.8339A>T (p.Lys2780Met) c.8231A>T (p.Lys2744Met) c.8213A>T (p.Lys2738Met) c.4985A>T (p.Lys1662Met) c.2915A>T (p.Lys972Met) c.8288A>T (p.Lys2763Met) c.8234A>T (p.Lys2745Met) c.8024A>T (p.Lys2675Met) c.7670A>T (p.Lys2557Met) c.5567A>T (p.Lys1856Met) n.8517A>T c.8153A>T (p.Lys2718Met) c.7349A>T (p.Lys2450Met) c.7154A>T (p.Lys2385Met) n.8511A>T n.8457A>T n.8566A>T | |
| 5 | g.37153771T>C | CA359473658 | CPLANE1 | n.1341A>G c.8342A>G (p.Lys2781Arg) c.8180A>G (p.Lys2727Arg) n.74A>G c.5354A>G (p.Lys1785Arg) n.584A>G c.1456A>G c.5378A>G (p.Lys1793Arg) c.8339A>G (p.Lys2780Arg) c.8231A>G (p.Lys2744Arg) c.8213A>G (p.Lys2738Arg) c.4985A>G (p.Lys1662Arg) c.2915A>G (p.Lys972Arg) c.8288A>G (p.Lys2763Arg) c.8234A>G (p.Lys2745Arg) c.8024A>G (p.Lys2675Arg) c.7670A>G (p.Lys2557Arg) c.5567A>G (p.Lys1856Arg) n.8517A>G c.8153A>G (p.Lys2718Arg) c.7349A>G (p.Lys2450Arg) c.7154A>G (p.Lys2385Arg) n.8511A>G n.8457A>G n.8566A>G | |
| 5 | g.37153771T>G | CA359473657 | CPLANE1 | n.1341A>C c.8342A>C (p.Lys2781Thr) c.8180A>C (p.Lys2727Thr) n.74A>C c.5354A>C (p.Lys1785Thr) n.584A>C c.1456A>C c.5378A>C (p.Lys1793Thr) c.8339A>C (p.Lys2780Thr) c.8231A>C (p.Lys2744Thr) c.8213A>C (p.Lys2738Thr) c.4985A>C (p.Lys1662Thr) c.2915A>C (p.Lys972Thr) c.8288A>C (p.Lys2763Thr) c.8234A>C (p.Lys2745Thr) c.8024A>C (p.Lys2675Thr) c.7670A>C (p.Lys2557Thr) c.5567A>C (p.Lys1856Thr) n.8517A>C c.8153A>C (p.Lys2718Thr) c.7349A>C (p.Lys2450Thr) c.7154A>C (p.Lys2385Thr) n.8511A>C n.8457A>C n.8566A>C | |
| 5 | g.37153772T>A | CA359473659 | CPLANE1 | n.1340A>T c.8341A>T (p.Lys2781Ter) c.8179A>T (p.Lys2727Ter) n.73A>T c.5353A>T (p.Lys1785Ter) n.583A>T c.1455A>T c.5377A>T (p.Lys1793Ter) c.8338A>T (p.Lys2780Ter) c.8230A>T (p.Lys2744Ter) c.8212A>T (p.Lys2738Ter) c.4984A>T (p.Lys1662Ter) c.2914A>T (p.Lys972Ter) c.8287A>T (p.Lys2763Ter) c.8233A>T (p.Lys2745Ter) c.8023A>T (p.Lys2675Ter) c.7669A>T (p.Lys2557Ter) c.5566A>T (p.Lys1856Ter) n.8516A>T c.8152A>T (p.Lys2718Ter) c.7348A>T (p.Lys2450Ter) c.7153A>T (p.Lys2385Ter) n.8510A>T n.8456A>T n.8565A>T | |
| 5 | g.37153772T>C | CA359473660 | CPLANE1 | n.1340A>G c.8341A>G (p.Lys2781Glu) c.8179A>G (p.Lys2727Glu) n.73A>G c.5353A>G (p.Lys1785Glu) n.583A>G c.1455A>G c.5377A>G (p.Lys1793Glu) c.8338A>G (p.Lys2780Glu) c.8230A>G (p.Lys2744Glu) c.8212A>G (p.Lys2738Glu) c.4984A>G (p.Lys1662Glu) c.2914A>G (p.Lys972Glu) c.8287A>G (p.Lys2763Glu) c.8233A>G (p.Lys2745Glu) c.8023A>G (p.Lys2675Glu) c.7669A>G (p.Lys2557Glu) c.5566A>G (p.Lys1856Glu) n.8516A>G c.8152A>G (p.Lys2718Glu) c.7348A>G (p.Lys2450Glu) c.7153A>G (p.Lys2385Glu) n.8510A>G n.8456A>G n.8565A>G | |
| 5 | g.37153772T>G | CA359473661 | CPLANE1 | n.1340A>C c.8341A>C (p.Lys2781Gln) c.8179A>C (p.Lys2727Gln) n.73A>C c.5353A>C (p.Lys1785Gln) n.583A>C c.1455A>C c.5377A>C (p.Lys1793Gln) c.8338A>C (p.Lys2780Gln) c.8230A>C (p.Lys2744Gln) c.8212A>C (p.Lys2738Gln) c.4984A>C (p.Lys1662Gln) c.2914A>C (p.Lys972Gln) c.8287A>C (p.Lys2763Gln) c.8233A>C (p.Lys2745Gln) c.8023A>C (p.Lys2675Gln) c.7669A>C (p.Lys2557Gln) c.5566A>C (p.Lys1856Gln) n.8516A>C c.8152A>C (p.Lys2718Gln) c.7348A>C (p.Lys2450Gln) c.7153A>C (p.Lys2385Gln) n.8510A>C n.8456A>C n.8565A>C | |
| 5 | g.37153773G>A | CA444096610 | CPLANE1 | n.1339C>T c.8340C>T (p.Pro2780=) c.8178C>T (p.Pro2726=) n.72C>T c.5352C>T (p.Pro1784=) n.582C>T c.1454C>T c.5376C>T (p.Pro1792=) c.8337C>T (p.Pro2779=) c.8229C>T (p.Pro2743=) c.8211C>T (p.Pro2737=) c.4983C>T (p.Pro1661=) c.2913C>T (p.Pro971=) c.8286C>T (p.Pro2762=) c.8232C>T (p.Pro2744=) c.8022C>T (p.Pro2674=) c.7668C>T (p.Pro2556=) c.5565C>T (p.Pro1855=) n.8515C>T c.8151C>T (p.Pro2717=) c.7347C>T (p.Pro2449=) c.7152C>T (p.Pro2384=) n.8509C>T n.8455C>T n.8564C>T | dbSNP gnomAD v4 |
| 5 | g.37153773G>C | CA444096611 | CPLANE1 | n.1339C>G c.8340C>G (p.Pro2780=) c.8178C>G (p.Pro2726=) n.72C>G c.5352C>G (p.Pro1784=) n.582C>G c.1454C>G c.5376C>G (p.Pro1792=) c.8337C>G (p.Pro2779=) c.8229C>G (p.Pro2743=) c.8211C>G (p.Pro2737=) c.4983C>G (p.Pro1661=) c.2913C>G (p.Pro971=) c.8286C>G (p.Pro2762=) c.8232C>G (p.Pro2744=) c.8022C>G (p.Pro2674=) c.7668C>G (p.Pro2556=) c.5565C>G (p.Pro1855=) n.8515C>G c.8151C>G (p.Pro2717=) c.7347C>G (p.Pro2449=) c.7152C>G (p.Pro2384=) n.8509C>G n.8455C>G n.8564C>G | gnomAD v4 |
| 5 | g.37153773G>T | CA444096612 | CPLANE1 | n.1339C>A c.8340C>A (p.Pro2780=) c.8178C>A (p.Pro2726=) n.72C>A c.5352C>A (p.Pro1784=) n.582C>A c.1454C>A c.5376C>A (p.Pro1792=) c.8337C>A (p.Pro2779=) c.8229C>A (p.Pro2743=) c.8211C>A (p.Pro2737=) c.4983C>A (p.Pro1661=) c.2913C>A (p.Pro971=) c.8286C>A (p.Pro2762=) c.8232C>A (p.Pro2744=) c.8022C>A (p.Pro2674=) c.7668C>A (p.Pro2556=) c.5565C>A (p.Pro1855=) n.8515C>A c.8151C>A (p.Pro2717=) c.7347C>A (p.Pro2449=) c.7152C>A (p.Pro2384=) n.8509C>A n.8455C>A n.8564C>A | |
| 5 | g.37153774G>A | CA359473662 | CPLANE1 | n.1338C>T c.8339C>T (p.Pro2780Leu) c.8177C>T (p.Pro2726Leu) n.71C>T c.5351C>T (p.Pro1784Leu) n.581C>T c.1453C>T c.5375C>T (p.Pro1792Leu) c.8336C>T (p.Pro2779Leu) c.8228C>T (p.Pro2743Leu) c.8210C>T (p.Pro2737Leu) c.4982C>T (p.Pro1661Leu) c.2912C>T (p.Pro971Leu) c.8285C>T (p.Pro2762Leu) c.8231C>T (p.Pro2744Leu) c.8021C>T (p.Pro2674Leu) c.7667C>T (p.Pro2556Leu) c.5564C>T (p.Pro1855Leu) n.8514C>T c.8150C>T (p.Pro2717Leu) c.7346C>T (p.Pro2449Leu) c.7151C>T (p.Pro2384Leu) n.8508C>T n.8454C>T n.8563C>T | gnomAD v4 |
| 5 | g.37153774G>C | CA359473663 | CPLANE1 | n.1338C>G c.8339C>G (p.Pro2780Arg) c.8177C>G (p.Pro2726Arg) n.71C>G c.5351C>G (p.Pro1784Arg) n.581C>G c.1453C>G c.5375C>G (p.Pro1792Arg) c.8336C>G (p.Pro2779Arg) c.8228C>G (p.Pro2743Arg) c.8210C>G (p.Pro2737Arg) c.4982C>G (p.Pro1661Arg) c.2912C>G (p.Pro971Arg) c.8285C>G (p.Pro2762Arg) c.8231C>G (p.Pro2744Arg) c.8021C>G (p.Pro2674Arg) c.7667C>G (p.Pro2556Arg) c.5564C>G (p.Pro1855Arg) n.8514C>G c.8150C>G (p.Pro2717Arg) c.7346C>G (p.Pro2449Arg) c.7151C>G (p.Pro2384Arg) n.8508C>G n.8454C>G n.8563C>G | |
| 5 | g.37153774G>T | CA359473664 | CPLANE1 | n.1338C>A c.8339C>A (p.Pro2780His) c.8177C>A (p.Pro2726His) n.71C>A c.5351C>A (p.Pro1784His) n.581C>A c.1453C>A c.5375C>A (p.Pro1792His) c.8336C>A (p.Pro2779His) c.8228C>A (p.Pro2743His) c.8210C>A (p.Pro2737His) c.4982C>A (p.Pro1661His) c.2912C>A (p.Pro971His) c.8285C>A (p.Pro2762His) c.8231C>A (p.Pro2744His) c.8021C>A (p.Pro2674His) c.7667C>A (p.Pro2556His) c.5564C>A (p.Pro1855His) n.8514C>A c.8150C>A (p.Pro2717His) c.7346C>A (p.Pro2449His) c.7151C>A (p.Pro2384His) n.8508C>A n.8454C>A n.8563C>A | |
| 5 | g.37153775G>A | CA359473665 | CPLANE1 | n.1337C>T c.8338C>T (p.Pro2780Ser) c.8176C>T (p.Pro2726Ser) n.70C>T c.5350C>T (p.Pro1784Ser) n.580C>T c.1452C>T c.5374C>T (p.Pro1792Ser) c.8335C>T (p.Pro2779Ser) c.8227C>T (p.Pro2743Ser) c.8209C>T (p.Pro2737Ser) c.4981C>T (p.Pro1661Ser) c.2911C>T (p.Pro971Ser) c.8284C>T (p.Pro2762Ser) c.8230C>T (p.Pro2744Ser) c.8020C>T (p.Pro2674Ser) c.7666C>T (p.Pro2556Ser) c.5563C>T (p.Pro1855Ser) n.8513C>T c.8149C>T (p.Pro2717Ser) c.7345C>T (p.Pro2449Ser) c.7150C>T (p.Pro2384Ser) n.8507C>T n.8453C>T n.8562C>T | |
| 5 | g.37153775G>C | CA359473666 | CPLANE1 | n.1337C>G c.8338C>G (p.Pro2780Ala) c.8176C>G (p.Pro2726Ala) n.70C>G c.5350C>G (p.Pro1784Ala) n.580C>G c.1452C>G c.5374C>G (p.Pro1792Ala) c.8335C>G (p.Pro2779Ala) c.8227C>G (p.Pro2743Ala) c.8209C>G (p.Pro2737Ala) c.4981C>G (p.Pro1661Ala) c.2911C>G (p.Pro971Ala) c.8284C>G (p.Pro2762Ala) c.8230C>G (p.Pro2744Ala) c.8020C>G (p.Pro2674Ala) c.7666C>G (p.Pro2556Ala) c.5563C>G (p.Pro1855Ala) n.8513C>G c.8149C>G (p.Pro2717Ala) c.7345C>G (p.Pro2449Ala) c.7150C>G (p.Pro2384Ala) n.8507C>G n.8453C>G n.8562C>G | |
| 5 | g.37153775G>T | CA359473667 | CPLANE1 | n.1337C>A c.8338C>A (p.Pro2780Thr) c.8176C>A (p.Pro2726Thr) n.70C>A c.5350C>A (p.Pro1784Thr) n.580C>A c.1452C>A c.5374C>A (p.Pro1792Thr) c.8335C>A (p.Pro2779Thr) c.8227C>A (p.Pro2743Thr) c.8209C>A (p.Pro2737Thr) c.4981C>A (p.Pro1661Thr) c.2911C>A (p.Pro971Thr) c.8284C>A (p.Pro2762Thr) c.8230C>A (p.Pro2744Thr) c.8020C>A (p.Pro2674Thr) c.7666C>A (p.Pro2556Thr) c.5563C>A (p.Pro1855Thr) n.8513C>A c.8149C>A (p.Pro2717Thr) c.7345C>A (p.Pro2449Thr) c.7150C>A (p.Pro2384Thr) n.8507C>A n.8453C>A n.8562C>A | |
| 5 | g.37153776G>A | CA444096614 | CPLANE1 | n.1336C>T c.8337C>T (p.Phe2779=) c.8175C>T (p.Phe2725=) n.69C>T c.5349C>T (p.Phe1783=) n.579C>T c.1451C>T c.5373C>T (p.Phe1791=) c.8334C>T (p.Phe2778=) c.8226C>T (p.Phe2742=) c.8208C>T (p.Phe2736=) c.4980C>T (p.Phe1660=) c.2910C>T (p.Phe970=) c.8283C>T (p.Phe2761=) c.8229C>T (p.Phe2743=) c.8019C>T (p.Phe2673=) c.7665C>T (p.Phe2555=) c.5562C>T (p.Phe1854=) n.8512C>T c.8148C>T (p.Phe2716=) c.7344C>T (p.Phe2448=) c.7149C>T (p.Phe2383=) n.8506C>T n.8452C>T n.8561C>T | |
| 5 | g.37153776G>C | CA359473668 | CPLANE1 | n.1336C>G c.8337C>G (p.Phe2779Leu) c.8175C>G (p.Phe2725Leu) n.69C>G c.5349C>G (p.Phe1783Leu) n.579C>G c.1451C>G c.5373C>G (p.Phe1791Leu) c.8334C>G (p.Phe2778Leu) c.8226C>G (p.Phe2742Leu) c.8208C>G (p.Phe2736Leu) c.4980C>G (p.Phe1660Leu) c.2910C>G (p.Phe970Leu) c.8283C>G (p.Phe2761Leu) c.8229C>G (p.Phe2743Leu) c.8019C>G (p.Phe2673Leu) c.7665C>G (p.Phe2555Leu) c.5562C>G (p.Phe1854Leu) n.8512C>G c.8148C>G (p.Phe2716Leu) c.7344C>G (p.Phe2448Leu) c.7149C>G (p.Phe2383Leu) n.8506C>G n.8452C>G n.8561C>G | |
| 5 | g.37153776G>T | CA359473669 | CPLANE1 | n.1336C>A c.8337C>A (p.Phe2779Leu) c.8175C>A (p.Phe2725Leu) n.69C>A c.5349C>A (p.Phe1783Leu) n.579C>A c.1451C>A c.5373C>A (p.Phe1791Leu) c.8334C>A (p.Phe2778Leu) c.8226C>A (p.Phe2742Leu) c.8208C>A (p.Phe2736Leu) c.4980C>A (p.Phe1660Leu) c.2910C>A (p.Phe970Leu) c.8283C>A (p.Phe2761Leu) c.8229C>A (p.Phe2743Leu) c.8019C>A (p.Phe2673Leu) c.7665C>A (p.Phe2555Leu) c.5562C>A (p.Phe1854Leu) n.8512C>A c.8148C>A (p.Phe2716Leu) c.7344C>A (p.Phe2448Leu) c.7149C>A (p.Phe2383Leu) n.8506C>A n.8452C>A n.8561C>A | COSMIC COSMIC |
| 5 | g.37153777A>C | CA359473672 | CPLANE1 | n.1335T>G c.8336T>G (p.Phe2779Cys) c.8174T>G (p.Phe2725Cys) n.68T>G c.5348T>G (p.Phe1783Cys) n.578T>G c.1450T>G c.5372T>G (p.Phe1791Cys) c.8333T>G (p.Phe2778Cys) c.8225T>G (p.Phe2742Cys) c.8207T>G (p.Phe2736Cys) c.4979T>G (p.Phe1660Cys) c.2909T>G (p.Phe970Cys) c.8282T>G (p.Phe2761Cys) c.8228T>G (p.Phe2743Cys) c.8018T>G (p.Phe2673Cys) c.7664T>G (p.Phe2555Cys) c.5561T>G (p.Phe1854Cys) n.8511T>G c.8147T>G (p.Phe2716Cys) c.7343T>G (p.Phe2448Cys) c.7148T>G (p.Phe2383Cys) n.8505T>G n.8451T>G n.8560T>G | |
| 5 | g.37153777A>G | CA359473670 | CPLANE1 | n.1335T>C c.8336T>C (p.Phe2779Ser) c.8174T>C (p.Phe2725Ser) n.68T>C c.5348T>C (p.Phe1783Ser) n.578T>C c.1450T>C c.5372T>C (p.Phe1791Ser) c.8333T>C (p.Phe2778Ser) c.8225T>C (p.Phe2742Ser) c.8207T>C (p.Phe2736Ser) c.4979T>C (p.Phe1660Ser) c.2909T>C (p.Phe970Ser) c.8282T>C (p.Phe2761Ser) c.8228T>C (p.Phe2743Ser) c.8018T>C (p.Phe2673Ser) c.7664T>C (p.Phe2555Ser) c.5561T>C (p.Phe1854Ser) n.8511T>C c.8147T>C (p.Phe2716Ser) c.7343T>C (p.Phe2448Ser) c.7148T>C (p.Phe2383Ser) n.8505T>C n.8451T>C n.8560T>C | ClinVar gnomAD v4 |
| 5 | g.37153777A>T | CA359473671 | CPLANE1 | n.1335T>A c.8336T>A (p.Phe2779Tyr) c.8174T>A (p.Phe2725Tyr) n.68T>A c.5348T>A (p.Phe1783Tyr) n.578T>A c.1450T>A c.5372T>A (p.Phe1791Tyr) c.8333T>A (p.Phe2778Tyr) c.8225T>A (p.Phe2742Tyr) c.8207T>A (p.Phe2736Tyr) c.4979T>A (p.Phe1660Tyr) c.2909T>A (p.Phe970Tyr) c.8282T>A (p.Phe2761Tyr) c.8228T>A (p.Phe2743Tyr) c.8018T>A (p.Phe2673Tyr) c.7664T>A (p.Phe2555Tyr) c.5561T>A (p.Phe1854Tyr) n.8511T>A c.8147T>A (p.Phe2716Tyr) c.7343T>A (p.Phe2448Tyr) c.7148T>A (p.Phe2383Tyr) n.8505T>A n.8451T>A n.8560T>A | |
| 5 | g.37153778A>C | CA359473673 | CPLANE1 | n.1334T>G c.8335T>G (p.Phe2779Val) c.8173T>G (p.Phe2725Val) n.67T>G c.5347T>G (p.Phe1783Val) n.577T>G c.1449T>G c.5371T>G (p.Phe1791Val) c.8332T>G (p.Phe2778Val) c.8224T>G (p.Phe2742Val) c.8206T>G (p.Phe2736Val) c.4978T>G (p.Phe1660Val) c.2908T>G (p.Phe970Val) c.8281T>G (p.Phe2761Val) c.8227T>G (p.Phe2743Val) c.8017T>G (p.Phe2673Val) c.7663T>G (p.Phe2555Val) c.5560T>G (p.Phe1854Val) n.8510T>G c.8146T>G (p.Phe2716Val) c.7342T>G (p.Phe2448Val) c.7147T>G (p.Phe2383Val) n.8504T>G n.8450T>G n.8559T>G | |
| 5 | g.37153778A>G | CA359473674 | CPLANE1 | n.1334T>C c.8335T>C (p.Phe2779Leu) c.8173T>C (p.Phe2725Leu) n.67T>C c.5347T>C (p.Phe1783Leu) n.577T>C c.1449T>C c.5371T>C (p.Phe1791Leu) c.8332T>C (p.Phe2778Leu) c.8224T>C (p.Phe2742Leu) c.8206T>C (p.Phe2736Leu) c.4978T>C (p.Phe1660Leu) c.2908T>C (p.Phe970Leu) c.8281T>C (p.Phe2761Leu) c.8227T>C (p.Phe2743Leu) c.8017T>C (p.Phe2673Leu) c.7663T>C (p.Phe2555Leu) c.5560T>C (p.Phe1854Leu) n.8510T>C c.8146T>C (p.Phe2716Leu) c.7342T>C (p.Phe2448Leu) c.7147T>C (p.Phe2383Leu) n.8504T>C n.8450T>C n.8559T>C | |
| 5 | g.37153778A>T | CA359473675 | CPLANE1 | n.1334T>A c.8335T>A (p.Phe2779Ile) c.8173T>A (p.Phe2725Ile) n.67T>A c.5347T>A (p.Phe1783Ile) n.577T>A c.1449T>A c.5371T>A (p.Phe1791Ile) c.8332T>A (p.Phe2778Ile) c.8224T>A (p.Phe2742Ile) c.8206T>A (p.Phe2736Ile) c.4978T>A (p.Phe1660Ile) c.2908T>A (p.Phe970Ile) c.8281T>A (p.Phe2761Ile) c.8227T>A (p.Phe2743Ile) c.8017T>A (p.Phe2673Ile) c.7663T>A (p.Phe2555Ile) c.5560T>A (p.Phe1854Ile) n.8510T>A c.8146T>A (p.Phe2716Ile) c.7342T>A (p.Phe2448Ile) c.7147T>A (p.Phe2383Ile) n.8504T>A n.8450T>A n.8559T>A | |
| 5 | g.37153779A= | CA1539650980 | CPLANE1 | n.1333T= c.8334T= (p.Asp2778=) c.8172T= (p.Asp2724=) n.66T= c.5346T= (p.Asp1782=) n.576T= c.1448T= c.5370T= (p.Asp1790=) c.8331T= (p.Asp2777=) c.8223T= (p.Asp2741=) c.8205T= (p.Asp2735=) c.4977T= (p.Asp1659=) c.2907T= (p.Asp969=) c.8280T= (p.Asp2760=) c.8226T= (p.Asp2742=) c.8016T= (p.Asp2672=) c.7662T= (p.Asp2554=) c.5559T= (p.Asp1853=) n.8509T= c.8145T= (p.Asp2715=) c.7341T= (p.Asp2447=) c.7146T= (p.Asp2382=) n.8503T= n.8449T= n.8558T= | |
| 5 | g.37153779A>C | CA359473676 | CPLANE1 | n.1333T>G c.8334T>G (p.Asp2778Glu) c.8172T>G (p.Asp2724Glu) n.66T>G c.5346T>G (p.Asp1782Glu) n.576T>G c.1448T>G c.5370T>G (p.Asp1790Glu) c.8331T>G (p.Asp2777Glu) c.8223T>G (p.Asp2741Glu) c.8205T>G (p.Asp2735Glu) c.4977T>G (p.Asp1659Glu) c.2907T>G (p.Asp969Glu) c.8280T>G (p.Asp2760Glu) c.8226T>G (p.Asp2742Glu) c.8016T>G (p.Asp2672Glu) c.7662T>G (p.Asp2554Glu) c.5559T>G (p.Asp1853Glu) n.8509T>G c.8145T>G (p.Asp2715Glu) c.7341T>G (p.Asp2447Glu) c.7146T>G (p.Asp2382Glu) n.8503T>G n.8449T>G n.8558T>G | |
| 5 | g.37153779A>G | CA444096617 | CPLANE1 | n.1333T>C c.8334T>C (p.Asp2778=) c.8172T>C (p.Asp2724=) n.66T>C c.5346T>C (p.Asp1782=) n.576T>C c.1448T>C c.5370T>C (p.Asp1790=) c.8331T>C (p.Asp2777=) c.8223T>C (p.Asp2741=) c.8205T>C (p.Asp2735=) c.4977T>C (p.Asp1659=) c.2907T>C (p.Asp969=) c.8280T>C (p.Asp2760=) c.8226T>C (p.Asp2742=) c.8016T>C (p.Asp2672=) c.7662T>C (p.Asp2554=) c.5559T>C (p.Asp1853=) n.8509T>C c.8145T>C (p.Asp2715=) c.7341T>C (p.Asp2447=) c.7146T>C (p.Asp2382=) n.8503T>C n.8449T>C n.8558T>C | |
| 5 | g.37153779A>T | CA359473677 | CPLANE1 | n.1333T>A c.8334T>A (p.Asp2778Glu) c.8172T>A (p.Asp2724Glu) n.66T>A c.5346T>A (p.Asp1782Glu) n.576T>A c.1448T>A c.5370T>A (p.Asp1790Glu) c.8331T>A (p.Asp2777Glu) c.8223T>A (p.Asp2741Glu) c.8205T>A (p.Asp2735Glu) c.4977T>A (p.Asp1659Glu) c.2907T>A (p.Asp969Glu) c.8280T>A (p.Asp2760Glu) c.8226T>A (p.Asp2742Glu) c.8016T>A (p.Asp2672Glu) c.7662T>A (p.Asp2554Glu) c.5559T>A (p.Asp1853Glu) n.8509T>A c.8145T>A (p.Asp2715Glu) c.7341T>A (p.Asp2447Glu) c.7146T>A (p.Asp2382Glu) n.8503T>A n.8449T>A n.8558T>A | dbSNP gnomAD v4 |
| 5 | g.37153780T>A | CA359473678 | CPLANE1 | n.1332A>T c.8333A>T (p.Asp2778Val) c.8171A>T (p.Asp2724Val) n.65A>T c.5345A>T (p.Asp1782Val) n.575A>T c.1447A>T c.5369A>T (p.Asp1790Val) c.8330A>T (p.Asp2777Val) c.8222A>T (p.Asp2741Val) c.8204A>T (p.Asp2735Val) c.4976A>T (p.Asp1659Val) c.2906A>T (p.Asp969Val) c.8279A>T (p.Asp2760Val) c.8225A>T (p.Asp2742Val) c.8015A>T (p.Asp2672Val) c.7661A>T (p.Asp2554Val) c.5558A>T (p.Asp1853Val) n.8508A>T c.8144A>T (p.Asp2715Val) c.7340A>T (p.Asp2447Val) c.7145A>T (p.Asp2382Val) n.8502A>T n.8448A>T n.8557A>T | |
| 5 | g.37153780T>C | CA359473679 | CPLANE1 | n.1332A>G c.8333A>G (p.Asp2778Gly) c.8171A>G (p.Asp2724Gly) n.65A>G c.5345A>G (p.Asp1782Gly) n.575A>G c.1447A>G c.5369A>G (p.Asp1790Gly) c.8330A>G (p.Asp2777Gly) c.8222A>G (p.Asp2741Gly) c.8204A>G (p.Asp2735Gly) c.4976A>G (p.Asp1659Gly) c.2906A>G (p.Asp969Gly) c.8279A>G (p.Asp2760Gly) c.8225A>G (p.Asp2742Gly) c.8015A>G (p.Asp2672Gly) c.7661A>G (p.Asp2554Gly) c.5558A>G (p.Asp1853Gly) n.8508A>G c.8144A>G (p.Asp2715Gly) c.7340A>G (p.Asp2447Gly) c.7145A>G (p.Asp2382Gly) n.8502A>G n.8448A>G n.8557A>G | |
| 5 | g.37153780T>G | CA359473680 | CPLANE1 | n.1332A>C c.8333A>C (p.Asp2778Ala) c.8171A>C (p.Asp2724Ala) n.65A>C c.5345A>C (p.Asp1782Ala) n.575A>C c.1447A>C c.5369A>C (p.Asp1790Ala) c.8330A>C (p.Asp2777Ala) c.8222A>C (p.Asp2741Ala) c.8204A>C (p.Asp2735Ala) c.4976A>C (p.Asp1659Ala) c.2906A>C (p.Asp969Ala) c.8279A>C (p.Asp2760Ala) c.8225A>C (p.Asp2742Ala) c.8015A>C (p.Asp2672Ala) c.7661A>C (p.Asp2554Ala) c.5558A>C (p.Asp1853Ala) n.8508A>C c.8144A>C (p.Asp2715Ala) c.7340A>C (p.Asp2447Ala) c.7145A>C (p.Asp2382Ala) n.8502A>C n.8448A>C n.8557A>C | |
| 5 | g.37153780_37153783del | CA2765914094 | CPLANE1 | n.1329_1332del c.8330_8333del (p.Gln2777LeufsTer8) c.8168_8171del (p.Gln2723LeufsTer8) n.62_65del c.5342_5345del (p.Gln1781LeufsTer8) n.572_575del c.1444_1447del c.5366_5369del (p.Gln1789LeufsTer8) c.8327_8330del (p.Gln2776LeufsTer8) c.8219_8222del (p.Gln2740LeufsTer8) c.8201_8204del (p.Gln2734LeufsTer8) c.4973_4976del (p.Gln1658LeufsTer8) c.2903_2906del (p.Gln968LeufsTer8) c.8276_8279del (p.Gln2759LeufsTer8) c.8222_8225del (p.Gln2741LeufsTer8) c.8012_8015del (p.Gln2671LeufsTer8) c.7658_7661del (p.Gln2553LeufsTer8) c.5555_5558del (p.Gln1852LeufsTer8) n.8505_8508del c.8141_8144del (p.Gln2714LeufsTer8) c.7337_7340del (p.Gln2446LeufsTer8) c.7142_7145del (p.Gln2381LeufsTer8) n.8499_8502del n.8445_8448del n.8554_8557del | |
| 5 | g.37153781C>A | CA359473681 | CPLANE1 | n.1331G>T c.8332G>T (p.Asp2778Tyr) c.8170G>T (p.Asp2724Tyr) n.64G>T c.5344G>T (p.Asp1782Tyr) n.574G>T c.1446G>T c.5368G>T (p.Asp1790Tyr) c.8329G>T (p.Asp2777Tyr) c.8221G>T (p.Asp2741Tyr) c.8203G>T (p.Asp2735Tyr) c.4975G>T (p.Asp1659Tyr) c.2905G>T (p.Asp969Tyr) c.8278G>T (p.Asp2760Tyr) c.8224G>T (p.Asp2742Tyr) c.8014G>T (p.Asp2672Tyr) c.7660G>T (p.Asp2554Tyr) c.5557G>T (p.Asp1853Tyr) n.8507G>T c.8143G>T (p.Asp2715Tyr) c.7339G>T (p.Asp2447Tyr) c.7144G>T (p.Asp2382Tyr) n.8501G>T n.8447G>T n.8556G>T | |
| 5 | g.37153781C>G | CA359473682 | CPLANE1 | n.1331G>C c.8332G>C (p.Asp2778His) c.8170G>C (p.Asp2724His) n.64G>C c.5344G>C (p.Asp1782His) n.574G>C c.1446G>C c.5368G>C (p.Asp1790His) c.8329G>C (p.Asp2777His) c.8221G>C (p.Asp2741His) c.8203G>C (p.Asp2735His) c.4975G>C (p.Asp1659His) c.2905G>C (p.Asp969His) c.8278G>C (p.Asp2760His) c.8224G>C (p.Asp2742His) c.8014G>C (p.Asp2672His) c.7660G>C (p.Asp2554His) c.5557G>C (p.Asp1853His) n.8507G>C c.8143G>C (p.Asp2715His) c.7339G>C (p.Asp2447His) c.7144G>C (p.Asp2382His) n.8501G>C n.8447G>C n.8556G>C | |
| 5 | g.37153781C>T | CA359473683 | CPLANE1 | n.1331G>A c.8332G>A (p.Asp2778Asn) c.8170G>A (p.Asp2724Asn) n.64G>A c.5344G>A (p.Asp1782Asn) n.574G>A c.1446G>A c.5368G>A (p.Asp1790Asn) c.8329G>A (p.Asp2777Asn) c.8221G>A (p.Asp2741Asn) c.8203G>A (p.Asp2735Asn) c.4975G>A (p.Asp1659Asn) c.2905G>A (p.Asp969Asn) c.8278G>A (p.Asp2760Asn) c.8224G>A (p.Asp2742Asn) c.8014G>A (p.Asp2672Asn) c.7660G>A (p.Asp2554Asn) c.5557G>A (p.Asp1853Asn) n.8507G>A c.8143G>A (p.Asp2715Asn) c.7339G>A (p.Asp2447Asn) c.7144G>A (p.Asp2382Asn) n.8501G>A n.8447G>A n.8556G>A | |
| 5 | g.37153782C>A | CA359473684 | CPLANE1 | n.1330G>T c.8331G>T (p.Gln2777His) c.8169G>T (p.Gln2723His) n.63G>T c.5343G>T (p.Gln1781His) n.573G>T c.1445G>T c.5367G>T (p.Gln1789His) c.8328G>T (p.Gln2776His) c.8220G>T (p.Gln2740His) c.8202G>T (p.Gln2734His) c.4974G>T (p.Gln1658His) c.2904G>T (p.Gln968His) c.8277G>T (p.Gln2759His) c.8223G>T (p.Gln2741His) c.8013G>T (p.Gln2671His) c.7659G>T (p.Gln2553His) c.5556G>T (p.Gln1852His) n.8506G>T c.8142G>T (p.Gln2714His) c.7338G>T (p.Gln2446His) c.7143G>T (p.Gln2381His) n.8500G>T n.8446G>T n.8555G>T | |
| 5 | g.37153782C>G | CA359473685 | CPLANE1 | n.1330G>C c.8331G>C (p.Gln2777His) c.8169G>C (p.Gln2723His) n.63G>C c.5343G>C (p.Gln1781His) n.573G>C c.1445G>C c.5367G>C (p.Gln1789His) c.8328G>C (p.Gln2776His) c.8220G>C (p.Gln2740His) c.8202G>C (p.Gln2734His) c.4974G>C (p.Gln1658His) c.2904G>C (p.Gln968His) c.8277G>C (p.Gln2759His) c.8223G>C (p.Gln2741His) c.8013G>C (p.Gln2671His) c.7659G>C (p.Gln2553His) c.5556G>C (p.Gln1852His) n.8506G>C c.8142G>C (p.Gln2714His) c.7338G>C (p.Gln2446His) c.7143G>C (p.Gln2381His) n.8500G>C n.8446G>C n.8555G>C | |
| 5 | g.37153782C>T | CA444096619 | CPLANE1 | n.1330G>A c.8331G>A (p.Gln2777=) c.8169G>A (p.Gln2723=) n.63G>A c.5343G>A (p.Gln1781=) n.573G>A c.1445G>A c.5367G>A (p.Gln1789=) c.8328G>A (p.Gln2776=) c.8220G>A (p.Gln2740=) c.8202G>A (p.Gln2734=) c.4974G>A (p.Gln1658=) c.2904G>A (p.Gln968=) c.8277G>A (p.Gln2759=) c.8223G>A (p.Gln2741=) c.8013G>A (p.Gln2671=) c.7659G>A (p.Gln2553=) c.5556G>A (p.Gln1852=) n.8506G>A c.8142G>A (p.Gln2714=) c.7338G>A (p.Gln2446=) c.7143G>A (p.Gln2381=) n.8500G>A n.8446G>A n.8555G>A | |
| 5 | g.37153783T>A | CA359473686 | CPLANE1 | n.1329A>T c.8330A>T (p.Gln2777Leu) c.8168A>T (p.Gln2723Leu) n.62A>T c.5342A>T (p.Gln1781Leu) n.572A>T c.1444A>T c.5366A>T (p.Gln1789Leu) c.8327A>T (p.Gln2776Leu) c.8219A>T (p.Gln2740Leu) c.8201A>T (p.Gln2734Leu) c.4973A>T (p.Gln1658Leu) c.2903A>T (p.Gln968Leu) c.8276A>T (p.Gln2759Leu) c.8222A>T (p.Gln2741Leu) c.8012A>T (p.Gln2671Leu) c.7658A>T (p.Gln2553Leu) c.5555A>T (p.Gln1852Leu) n.8505A>T c.8141A>T (p.Gln2714Leu) c.7337A>T (p.Gln2446Leu) c.7142A>T (p.Gln2381Leu) n.8499A>T n.8445A>T n.8554A>T | |
| 5 | g.37153783T>C | CA359473687 | CPLANE1 | n.1329A>G c.8330A>G (p.Gln2777Arg) c.8168A>G (p.Gln2723Arg) n.62A>G c.5342A>G (p.Gln1781Arg) n.572A>G c.1444A>G c.5366A>G (p.Gln1789Arg) c.8327A>G (p.Gln2776Arg) c.8219A>G (p.Gln2740Arg) c.8201A>G (p.Gln2734Arg) c.4973A>G (p.Gln1658Arg) c.2903A>G (p.Gln968Arg) c.8276A>G (p.Gln2759Arg) c.8222A>G (p.Gln2741Arg) c.8012A>G (p.Gln2671Arg) c.7658A>G (p.Gln2553Arg) c.5555A>G (p.Gln1852Arg) n.8505A>G c.8141A>G (p.Gln2714Arg) c.7337A>G (p.Gln2446Arg) c.7142A>G (p.Gln2381Arg) n.8499A>G n.8445A>G n.8554A>G | dbSNP gnomAD v4 |
| 5 | g.37153783T>G | CA359473688 | CPLANE1 | n.1329A>C c.8330A>C (p.Gln2777Pro) c.8168A>C (p.Gln2723Pro) n.62A>C c.5342A>C (p.Gln1781Pro) n.572A>C c.1444A>C c.5366A>C (p.Gln1789Pro) c.8327A>C (p.Gln2776Pro) c.8219A>C (p.Gln2740Pro) c.8201A>C (p.Gln2734Pro) c.4973A>C (p.Gln1658Pro) c.2903A>C (p.Gln968Pro) c.8276A>C (p.Gln2759Pro) c.8222A>C (p.Gln2741Pro) c.8012A>C (p.Gln2671Pro) c.7658A>C (p.Gln2553Pro) c.5555A>C (p.Gln1852Pro) n.8505A>C c.8141A>C (p.Gln2714Pro) c.7337A>C (p.Gln2446Pro) c.7142A>C (p.Gln2381Pro) n.8499A>C n.8445A>C n.8554A>C | |
| 5 | g.37153783T= | CA1539650986 | CPLANE1 | n.1329A= c.8330A= (p.Gln2777=) c.8168A= (p.Gln2723=) n.62A= c.5342A= (p.Gln1781=) n.572A= c.1444A= c.5366A= (p.Gln1789=) c.8327A= (p.Gln2776=) c.8219A= (p.Gln2740=) c.8201A= (p.Gln2734=) c.4973A= (p.Gln1658=) c.2903A= (p.Gln968=) c.8276A= (p.Gln2759=) c.8222A= (p.Gln2741=) c.8012A= (p.Gln2671=) c.7658A= (p.Gln2553=) c.5555A= (p.Gln1852=) n.8505A= c.8141A= (p.Gln2714=) c.7337A= (p.Gln2446=) c.7142A= (p.Gln2381=) n.8499A= n.8445A= n.8554A= | |
| 5 | g.37153784G>A | CA279445 | CPLANE1 | n.1328C>T c.8329C>T (p.Gln2777Ter) c.8167C>T (p.Gln2723Ter) n.61C>T c.5341C>T (p.Gln1781Ter) n.571C>T c.1443C>T c.5365C>T (p.Gln1789Ter) c.8326C>T (p.Gln2776Ter) c.8218C>T (p.Gln2740Ter) c.8200C>T (p.Gln2734Ter) c.4972C>T (p.Gln1658Ter) c.2902C>T (p.Gln968Ter) c.8275C>T (p.Gln2759Ter) c.8221C>T (p.Gln2741Ter) c.8011C>T (p.Gln2671Ter) c.7657C>T (p.Gln2553Ter) c.5554C>T (p.Gln1852Ter) n.8504C>T c.8140C>T (p.Gln2714Ter) c.7336C>T (p.Gln2446Ter) c.7141C>T (p.Gln2381Ter) n.8498C>T n.8444C>T n.8553C>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.37153784G>C | CA359473689 | CPLANE1 | n.1328C>G c.8329C>G (p.Gln2777Glu) c.8167C>G (p.Gln2723Glu) n.61C>G c.5341C>G (p.Gln1781Glu) n.571C>G c.1443C>G c.5365C>G (p.Gln1789Glu) c.8326C>G (p.Gln2776Glu) c.8218C>G (p.Gln2740Glu) c.8200C>G (p.Gln2734Glu) c.4972C>G (p.Gln1658Glu) c.2902C>G (p.Gln968Glu) c.8275C>G (p.Gln2759Glu) c.8221C>G (p.Gln2741Glu) c.8011C>G (p.Gln2671Glu) c.7657C>G (p.Gln2553Glu) c.5554C>G (p.Gln1852Glu) n.8504C>G c.8140C>G (p.Gln2714Glu) c.7336C>G (p.Gln2446Glu) c.7141C>G (p.Gln2381Glu) n.8498C>G n.8444C>G n.8553C>G | |
| 5 | g.37153784G= | CA1539650989 | CPLANE1 | n.1328C= c.8329C= (p.Gln2777=) c.8167C= (p.Gln2723=) n.61C= c.5341C= (p.Gln1781=) n.571C= c.1443C= c.5365C= (p.Gln1789=) c.8326C= (p.Gln2776=) c.8218C= (p.Gln2740=) c.8200C= (p.Gln2734=) c.4972C= (p.Gln1658=) c.2902C= (p.Gln968=) c.8275C= (p.Gln2759=) c.8221C= (p.Gln2741=) c.8011C= (p.Gln2671=) c.7657C= (p.Gln2553=) c.5554C= (p.Gln1852=) n.8504C= c.8140C= (p.Gln2714=) c.7336C= (p.Gln2446=) c.7141C= (p.Gln2381=) n.8498C= n.8444C= n.8553C= | |
| 5 | g.37153784G>T | CA359473690 | CPLANE1 | n.1328C>A c.8329C>A (p.Gln2777Lys) c.8167C>A (p.Gln2723Lys) n.61C>A c.5341C>A (p.Gln1781Lys) n.571C>A c.1443C>A c.5365C>A (p.Gln1789Lys) c.8326C>A (p.Gln2776Lys) c.8218C>A (p.Gln2740Lys) c.8200C>A (p.Gln2734Lys) c.4972C>A (p.Gln1658Lys) c.2902C>A (p.Gln968Lys) c.8275C>A (p.Gln2759Lys) c.8221C>A (p.Gln2741Lys) c.8011C>A (p.Gln2671Lys) c.7657C>A (p.Gln2553Lys) c.5554C>A (p.Gln1852Lys) n.8504C>A c.8140C>A (p.Gln2714Lys) c.7336C>A (p.Gln2446Lys) c.7141C>A (p.Gln2381Lys) n.8498C>A n.8444C>A n.8553C>A | gnomAD v4 |
| 5 | g.37153785T>A | CA3237822 | CPLANE1 | n.1327A>T c.8328A>T (p.Glu2776Asp) c.8166A>T (p.Glu2722Asp) n.60A>T c.5340A>T (p.Glu1780Asp) n.570A>T c.1442A>T c.5364A>T (p.Glu1788Asp) c.8325A>T (p.Glu2775Asp) c.8217A>T (p.Glu2739Asp) c.8199A>T (p.Glu2733Asp) c.4971A>T (p.Glu1657Asp) c.2901A>T (p.Glu967Asp) c.8274A>T (p.Glu2758Asp) c.8220A>T (p.Glu2740Asp) c.8010A>T (p.Glu2670Asp) c.7656A>T (p.Glu2552Asp) c.5553A>T (p.Glu1851Asp) n.8503A>T c.8139A>T (p.Glu2713Asp) c.7335A>T (p.Glu2445Asp) c.7140A>T (p.Glu2380Asp) n.8497A>T n.8443A>T n.8552A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37153785T>C | CA444096620 | CPLANE1 | n.1327A>G c.8328A>G (p.Glu2776=) c.8166A>G (p.Glu2722=) n.60A>G c.5340A>G (p.Glu1780=) n.570A>G c.1442A>G c.5364A>G (p.Glu1788=) c.8325A>G (p.Glu2775=) c.8217A>G (p.Glu2739=) c.8199A>G (p.Glu2733=) c.4971A>G (p.Glu1657=) c.2901A>G (p.Glu967=) c.8274A>G (p.Glu2758=) c.8220A>G (p.Glu2740=) c.8010A>G (p.Glu2670=) c.7656A>G (p.Glu2552=) c.5553A>G (p.Glu1851=) n.8503A>G c.8139A>G (p.Glu2713=) c.7335A>G (p.Glu2445=) c.7140A>G (p.Glu2380=) n.8497A>G n.8443A>G n.8552A>G | |
| 5 | g.37153785T>G | CA359473691 | CPLANE1 | n.1327A>C c.8328A>C (p.Glu2776Asp) c.8166A>C (p.Glu2722Asp) n.60A>C c.5340A>C (p.Glu1780Asp) n.570A>C c.1442A>C c.5364A>C (p.Glu1788Asp) c.8325A>C (p.Glu2775Asp) c.8217A>C (p.Glu2739Asp) c.8199A>C (p.Glu2733Asp) c.4971A>C (p.Glu1657Asp) c.2901A>C (p.Glu967Asp) c.8274A>C (p.Glu2758Asp) c.8220A>C (p.Glu2740Asp) c.8010A>C (p.Glu2670Asp) c.7656A>C (p.Glu2552Asp) c.5553A>C (p.Glu1851Asp) n.8503A>C c.8139A>C (p.Glu2713Asp) c.7335A>C (p.Glu2445Asp) c.7140A>C (p.Glu2380Asp) n.8497A>C n.8443A>C n.8552A>C | |
| 5 | g.37153785T= | CA1539651004 | CPLANE1 | n.1327A= c.8328A= (p.Glu2776=) c.8166A= (p.Glu2722=) n.60A= c.5340A= (p.Glu1780=) n.570A= c.1442A= c.5364A= (p.Glu1788=) c.8325A= (p.Glu2775=) c.8217A= (p.Glu2739=) c.8199A= (p.Glu2733=) c.4971A= (p.Glu1657=) c.2901A= (p.Glu967=) c.8274A= (p.Glu2758=) c.8220A= (p.Glu2740=) c.8010A= (p.Glu2670=) c.7656A= (p.Glu2552=) c.5553A= (p.Glu1851=) n.8503A= c.8139A= (p.Glu2713=) c.7335A= (p.Glu2445=) c.7140A= (p.Glu2380=) n.8497A= n.8443A= n.8552A= | |
| 5 | g.37153785_37153787delinsAAA | CA891862888 | CPLANE1 | n.1325_1327delinsTTT c.8326_8328delinsTTT (p.Glu2776Phe) c.8164_8166delinsTTT (p.Glu2722Phe) n.58_60delinsTTT c.5338_5340delinsTTT (p.Glu1780Phe) n.568_570delinsTTT c.1440_1442delinsTTT c.5362_5364delinsTTT (p.Glu1788Phe) c.8323_8325delinsTTT (p.Glu2775Phe) c.8215_8217delinsTTT (p.Glu2739Phe) c.8197_8199delinsTTT (p.Glu2733Phe) c.4969_4971delinsTTT (p.Glu1657Phe) c.2899_2901delinsTTT (p.Glu967Phe) c.8272_8274delinsTTT (p.Glu2758Phe) c.8218_8220delinsTTT (p.Glu2740Phe) c.8008_8010delinsTTT (p.Glu2670Phe) c.7654_7656delinsTTT (p.Glu2552Phe) c.5551_5553delinsTTT (p.Glu1851Phe) n.8501_8503delinsTTT c.8137_8139delinsTTT (p.Glu2713Phe) c.7333_7335delinsTTT (p.Glu2445Phe) c.7138_7140delinsTTT (p.Glu2380Phe) n.8495_8497delinsTTT n.8441_8443delinsTTT n.8550_8552delinsTTT | ClinVar dbSNP |
| 5 | g.37153785_37153787delinsTTC | CA1539651003 | CPLANE1 | n.1325_1327delinsGAA c.8326_8328delinsGAA (p.Glu2776=) c.8164_8166delinsGAA (p.Glu2722=) n.58_60delinsGAA c.5338_5340delinsGAA (p.Glu1780=) n.568_570delinsGAA c.1440_1442delinsGAA c.5362_5364delinsGAA (p.Glu1788=) c.8323_8325delinsGAA (p.Glu2775=) c.8215_8217delinsGAA (p.Glu2739=) c.8197_8199delinsGAA (p.Glu2733=) c.4969_4971delinsGAA (p.Glu1657=) c.2899_2901delinsGAA (p.Glu967=) c.8272_8274delinsGAA (p.Glu2758=) c.8218_8220delinsGAA (p.Glu2740=) c.8008_8010delinsGAA (p.Glu2670=) c.7654_7656delinsGAA (p.Glu2552=) c.5551_5553delinsGAA (p.Glu1851=) n.8501_8503delinsGAA c.8137_8139delinsGAA (p.Glu2713=) c.7333_7335delinsGAA (p.Glu2445=) c.7138_7140delinsGAA (p.Glu2380=) n.8495_8497delinsGAA n.8441_8443delinsGAA n.8550_8552delinsGAA | |
| 5 | g.37153786T>A | CA3237823 | CPLANE1 | n.1326A>T c.8327A>T (p.Glu2776Val) c.8165A>T (p.Glu2722Val) n.59A>T c.5339A>T (p.Glu1780Val) n.569A>T c.1441A>T c.5363A>T (p.Glu1788Val) c.8324A>T (p.Glu2775Val) c.8216A>T (p.Glu2739Val) c.8198A>T (p.Glu2733Val) c.4970A>T (p.Glu1657Val) c.2900A>T (p.Glu967Val) c.8273A>T (p.Glu2758Val) c.8219A>T (p.Glu2740Val) c.8009A>T (p.Glu2670Val) c.7655A>T (p.Glu2552Val) c.5552A>T (p.Glu1851Val) n.8502A>T c.8138A>T (p.Glu2713Val) c.7334A>T (p.Glu2445Val) c.7139A>T (p.Glu2380Val) n.8496A>T n.8442A>T n.8551A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37153786T>C | CA359473692 | CPLANE1 | n.1326A>G c.8327A>G (p.Glu2776Gly) c.8165A>G (p.Glu2722Gly) n.59A>G c.5339A>G (p.Glu1780Gly) n.569A>G c.1441A>G c.5363A>G (p.Glu1788Gly) c.8324A>G (p.Glu2775Gly) c.8216A>G (p.Glu2739Gly) c.8198A>G (p.Glu2733Gly) c.4970A>G (p.Glu1657Gly) c.2900A>G (p.Glu967Gly) c.8273A>G (p.Glu2758Gly) c.8219A>G (p.Glu2740Gly) c.8009A>G (p.Glu2670Gly) c.7655A>G (p.Glu2552Gly) c.5552A>G (p.Glu1851Gly) n.8502A>G c.8138A>G (p.Glu2713Gly) c.7334A>G (p.Glu2445Gly) c.7139A>G (p.Glu2380Gly) n.8496A>G n.8442A>G n.8551A>G | |
| 5 | g.37153786T>G | CA359473693 | CPLANE1 | n.1326A>C c.8327A>C (p.Glu2776Ala) c.8165A>C (p.Glu2722Ala) n.59A>C c.5339A>C (p.Glu1780Ala) n.569A>C c.1441A>C c.5363A>C (p.Glu1788Ala) c.8324A>C (p.Glu2775Ala) c.8216A>C (p.Glu2739Ala) c.8198A>C (p.Glu2733Ala) c.4970A>C (p.Glu1657Ala) c.2900A>C (p.Glu967Ala) c.8273A>C (p.Glu2758Ala) c.8219A>C (p.Glu2740Ala) c.8009A>C (p.Glu2670Ala) c.7655A>C (p.Glu2552Ala) c.5552A>C (p.Glu1851Ala) n.8502A>C c.8138A>C (p.Glu2713Ala) c.7334A>C (p.Glu2445Ala) c.7139A>C (p.Glu2380Ala) n.8496A>C n.8442A>C n.8551A>C | |
| 5 | g.37153786T= | CA1539651007 | CPLANE1 | n.1326A= c.8327A= (p.Glu2776=) c.8165A= (p.Glu2722=) n.59A= c.5339A= (p.Glu1780=) n.569A= c.1441A= c.5363A= (p.Glu1788=) c.8324A= (p.Glu2775=) c.8216A= (p.Glu2739=) c.8198A= (p.Glu2733=) c.4970A= (p.Glu1657=) c.2900A= (p.Glu967=) c.8273A= (p.Glu2758=) c.8219A= (p.Glu2740=) c.8009A= (p.Glu2670=) c.7655A= (p.Glu2552=) c.5552A= (p.Glu1851=) n.8502A= c.8138A= (p.Glu2713=) c.7334A= (p.Glu2445=) c.7139A= (p.Glu2380=) n.8496A= n.8442A= n.8551A= | |
| 5 | g.37153787C>A | CA3237824 | CPLANE1 | n.1325G>T c.8326G>T (p.Glu2776Ter) c.8164G>T (p.Glu2722Ter) n.58G>T c.5338G>T (p.Glu1780Ter) n.568G>T c.1440G>T c.5362G>T (p.Glu1788Ter) c.8323G>T (p.Glu2775Ter) c.8215G>T (p.Glu2739Ter) c.8197G>T (p.Glu2733Ter) c.4969G>T (p.Glu1657Ter) c.2899G>T (p.Glu967Ter) c.8272G>T (p.Glu2758Ter) c.8218G>T (p.Glu2740Ter) c.8008G>T (p.Glu2670Ter) c.7654G>T (p.Glu2552Ter) c.5551G>T (p.Glu1851Ter) n.8501G>T c.8137G>T (p.Glu2713Ter) c.7333G>T (p.Glu2445Ter) c.7138G>T (p.Glu2380Ter) n.8495G>T n.8441G>T n.8550G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37153787C= | CA1539651010 | CPLANE1 | n.1325G= c.8326G= (p.Glu2776=) c.8164G= (p.Glu2722=) n.58G= c.5338G= (p.Glu1780=) n.568G= c.1440G= c.5362G= (p.Glu1788=) c.8323G= (p.Glu2775=) c.8215G= (p.Glu2739=) c.8197G= (p.Glu2733=) c.4969G= (p.Glu1657=) c.2899G= (p.Glu967=) c.8272G= (p.Glu2758=) c.8218G= (p.Glu2740=) c.8008G= (p.Glu2670=) c.7654G= (p.Glu2552=) c.5551G= (p.Glu1851=) n.8501G= c.8137G= (p.Glu2713=) c.7333G= (p.Glu2445=) c.7138G= (p.Glu2380=) n.8495G= n.8441G= n.8550G= | |
| 5 | g.37153787C>G | CA359473697 | CPLANE1 | n.1325G>C c.8326G>C (p.Glu2776Gln) c.8164G>C (p.Glu2722Gln) n.58G>C c.5338G>C (p.Glu1780Gln) n.568G>C c.1440G>C c.5362G>C (p.Glu1788Gln) c.8323G>C (p.Glu2775Gln) c.8215G>C (p.Glu2739Gln) c.8197G>C (p.Glu2733Gln) c.4969G>C (p.Glu1657Gln) c.2899G>C (p.Glu967Gln) c.8272G>C (p.Glu2758Gln) c.8218G>C (p.Glu2740Gln) c.8008G>C (p.Glu2670Gln) c.7654G>C (p.Glu2552Gln) c.5551G>C (p.Glu1851Gln) n.8501G>C c.8137G>C (p.Glu2713Gln) c.7333G>C (p.Glu2445Gln) c.7138G>C (p.Glu2380Gln) n.8495G>C n.8441G>C n.8550G>C | |
| 5 | g.37153787C>T | CA359473695 | CPLANE1 | n.1325G>A c.8326G>A (p.Glu2776Lys) c.8164G>A (p.Glu2722Lys) n.58G>A c.5338G>A (p.Glu1780Lys) n.568G>A c.1440G>A c.5362G>A (p.Glu1788Lys) c.8323G>A (p.Glu2775Lys) c.8215G>A (p.Glu2739Lys) c.8197G>A (p.Glu2733Lys) c.4969G>A (p.Glu1657Lys) c.2899G>A (p.Glu967Lys) c.8272G>A (p.Glu2758Lys) c.8218G>A (p.Glu2740Lys) c.8008G>A (p.Glu2670Lys) c.7654G>A (p.Glu2552Lys) c.5551G>A (p.Glu1851Lys) n.8501G>A c.8137G>A (p.Glu2713Lys) c.7333G>A (p.Glu2445Lys) c.7138G>A (p.Glu2380Lys) n.8495G>A n.8441G>A n.8550G>A | |
| 5 | g.37153788T>A | CA444096622 | CPLANE1 | n.1324A>T c.8325A>T (p.Ile2775=) c.8163A>T (p.Ile2721=) n.57A>T c.5337A>T (p.Ile1779=) n.567A>T c.1439A>T c.5361A>T (p.Ile1787=) c.8322A>T (p.Ile2774=) c.8214A>T (p.Ile2738=) c.8196A>T (p.Ile2732=) c.4968A>T (p.Ile1656=) c.2898A>T (p.Ile966=) c.8271A>T (p.Ile2757=) c.8217A>T (p.Ile2739=) c.8007A>T (p.Ile2669=) c.7653A>T (p.Ile2551=) c.5550A>T (p.Ile1850=) n.8500A>T c.8136A>T (p.Ile2712=) c.7332A>T (p.Ile2444=) c.7137A>T (p.Ile2379=) n.8494A>T n.8440A>T n.8549A>T | |
| 5 | g.37153788T>C | CA359473699 | CPLANE1 | n.1324A>G c.8325A>G (p.Ile2775Met) c.8163A>G (p.Ile2721Met) n.57A>G c.5337A>G (p.Ile1779Met) n.567A>G c.1439A>G c.5361A>G (p.Ile1787Met) c.8322A>G (p.Ile2774Met) c.8214A>G (p.Ile2738Met) c.8196A>G (p.Ile2732Met) c.4968A>G (p.Ile1656Met) c.2898A>G (p.Ile966Met) c.8271A>G (p.Ile2757Met) c.8217A>G (p.Ile2739Met) c.8007A>G (p.Ile2669Met) c.7653A>G (p.Ile2551Met) c.5550A>G (p.Ile1850Met) n.8500A>G c.8136A>G (p.Ile2712Met) c.7332A>G (p.Ile2444Met) c.7137A>G (p.Ile2379Met) n.8494A>G n.8440A>G n.8549A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37153788T>G | CA444096623 | CPLANE1 | n.1324A>C c.8325A>C (p.Ile2775=) c.8163A>C (p.Ile2721=) n.57A>C c.5337A>C (p.Ile1779=) n.567A>C c.1439A>C c.5361A>C (p.Ile1787=) c.8322A>C (p.Ile2774=) c.8214A>C (p.Ile2738=) c.8196A>C (p.Ile2732=) c.4968A>C (p.Ile1656=) c.2898A>C (p.Ile966=) c.8271A>C (p.Ile2757=) c.8217A>C (p.Ile2739=) c.8007A>C (p.Ile2669=) c.7653A>C (p.Ile2551=) c.5550A>C (p.Ile1850=) n.8500A>C c.8136A>C (p.Ile2712=) c.7332A>C (p.Ile2444=) c.7137A>C (p.Ile2379=) n.8494A>C n.8440A>C n.8549A>C | |
| 5 | g.37153788T= | CA1539651014 | CPLANE1 | n.1324A= c.8325A= (p.Ile2775=) c.8163A= (p.Ile2721=) n.57A= c.5337A= (p.Ile1779=) n.567A= c.1439A= c.5361A= (p.Ile1787=) c.8322A= (p.Ile2774=) c.8214A= (p.Ile2738=) c.8196A= (p.Ile2732=) c.4968A= (p.Ile1656=) c.2898A= (p.Ile966=) c.8271A= (p.Ile2757=) c.8217A= (p.Ile2739=) c.8007A= (p.Ile2669=) c.7653A= (p.Ile2551=) c.5550A= (p.Ile1850=) n.8500A= c.8136A= (p.Ile2712=) c.7332A= (p.Ile2444=) c.7137A= (p.Ile2379=) n.8494A= n.8440A= n.8549A= | |
| 5 | g.37153789A>C | CA359473701 | CPLANE1 | n.1323T>G c.8324T>G (p.Ile2775Arg) c.8162T>G (p.Ile2721Arg) n.56T>G c.5336T>G (p.Ile1779Arg) n.566T>G c.1438T>G c.5360T>G (p.Ile1787Arg) c.8321T>G (p.Ile2774Arg) c.8213T>G (p.Ile2738Arg) c.8195T>G (p.Ile2732Arg) c.4967T>G (p.Ile1656Arg) c.2897T>G (p.Ile966Arg) c.8270T>G (p.Ile2757Arg) c.8216T>G (p.Ile2739Arg) c.8006T>G (p.Ile2669Arg) c.7652T>G (p.Ile2551Arg) c.5549T>G (p.Ile1850Arg) n.8499T>G c.8135T>G (p.Ile2712Arg) c.7331T>G (p.Ile2444Arg) c.7136T>G (p.Ile2379Arg) n.8493T>G n.8439T>G n.8548T>G | |
| 5 | g.37153789A>G | CA359473702 | CPLANE1 | n.1323T>C c.8324T>C (p.Ile2775Thr) c.8162T>C (p.Ile2721Thr) n.56T>C c.5336T>C (p.Ile1779Thr) n.566T>C c.1438T>C c.5360T>C (p.Ile1787Thr) c.8321T>C (p.Ile2774Thr) c.8213T>C (p.Ile2738Thr) c.8195T>C (p.Ile2732Thr) c.4967T>C (p.Ile1656Thr) c.2897T>C (p.Ile966Thr) c.8270T>C (p.Ile2757Thr) c.8216T>C (p.Ile2739Thr) c.8006T>C (p.Ile2669Thr) c.7652T>C (p.Ile2551Thr) c.5549T>C (p.Ile1850Thr) n.8499T>C c.8135T>C (p.Ile2712Thr) c.7331T>C (p.Ile2444Thr) c.7136T>C (p.Ile2379Thr) n.8493T>C n.8439T>C n.8548T>C | gnomAD v4 |
| 5 | g.37153789A>T | CA359473704 | CPLANE1 | n.1323T>A c.8324T>A (p.Ile2775Lys) c.8162T>A (p.Ile2721Lys) n.56T>A c.5336T>A (p.Ile1779Lys) n.566T>A c.1438T>A c.5360T>A (p.Ile1787Lys) c.8321T>A (p.Ile2774Lys) c.8213T>A (p.Ile2738Lys) c.8195T>A (p.Ile2732Lys) c.4967T>A (p.Ile1656Lys) c.2897T>A (p.Ile966Lys) c.8270T>A (p.Ile2757Lys) c.8216T>A (p.Ile2739Lys) c.8006T>A (p.Ile2669Lys) c.7652T>A (p.Ile2551Lys) c.5549T>A (p.Ile1850Lys) n.8499T>A c.8135T>A (p.Ile2712Lys) c.7331T>A (p.Ile2444Lys) c.7136T>A (p.Ile2379Lys) n.8493T>A n.8439T>A n.8548T>A | |
| 5 | g.37153790T>A | CA359473706 | CPLANE1 | n.1322A>T c.8323A>T (p.Ile2775Leu) c.8161A>T (p.Ile2721Leu) n.55A>T c.5335A>T (p.Ile1779Leu) n.565A>T c.1437A>T c.5359A>T (p.Ile1787Leu) c.8320A>T (p.Ile2774Leu) c.8212A>T (p.Ile2738Leu) c.8194A>T (p.Ile2732Leu) c.4966A>T (p.Ile1656Leu) c.2896A>T (p.Ile966Leu) c.8269A>T (p.Ile2757Leu) c.8215A>T (p.Ile2739Leu) c.8005A>T (p.Ile2669Leu) c.7651A>T (p.Ile2551Leu) c.5548A>T (p.Ile1850Leu) n.8498A>T c.8134A>T (p.Ile2712Leu) c.7330A>T (p.Ile2444Leu) c.7135A>T (p.Ile2379Leu) n.8492A>T n.8438A>T n.8547A>T | |
| 5 | g.37153790T>C | CA3237825 | CPLANE1 | n.1322A>G c.8323A>G (p.Ile2775Val) c.8161A>G (p.Ile2721Val) n.55A>G c.5335A>G (p.Ile1779Val) n.565A>G c.1437A>G c.5359A>G (p.Ile1787Val) c.8320A>G (p.Ile2774Val) c.8212A>G (p.Ile2738Val) c.8194A>G (p.Ile2732Val) c.4966A>G (p.Ile1656Val) c.2896A>G (p.Ile966Val) c.8269A>G (p.Ile2757Val) c.8215A>G (p.Ile2739Val) c.8005A>G (p.Ile2669Val) c.7651A>G (p.Ile2551Val) c.5548A>G (p.Ile1850Val) n.8498A>G c.8134A>G (p.Ile2712Val) c.7330A>G (p.Ile2444Val) c.7135A>G (p.Ile2379Val) n.8492A>G n.8438A>G n.8547A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37153790T>G | CA359473707 | CPLANE1 | n.1322A>C c.8323A>C (p.Ile2775Leu) c.8161A>C (p.Ile2721Leu) n.55A>C c.5335A>C (p.Ile1779Leu) n.565A>C c.1437A>C c.5359A>C (p.Ile1787Leu) c.8320A>C (p.Ile2774Leu) c.8212A>C (p.Ile2738Leu) c.8194A>C (p.Ile2732Leu) c.4966A>C (p.Ile1656Leu) c.2896A>C (p.Ile966Leu) c.8269A>C (p.Ile2757Leu) c.8215A>C (p.Ile2739Leu) c.8005A>C (p.Ile2669Leu) c.7651A>C (p.Ile2551Leu) c.5548A>C (p.Ile1850Leu) n.8498A>C c.8134A>C (p.Ile2712Leu) c.7330A>C (p.Ile2444Leu) c.7135A>C (p.Ile2379Leu) n.8492A>C n.8438A>C n.8547A>C | |
| 5 | g.37153790T= | CA1539651019 | CPLANE1 | n.1322A= c.8323A= (p.Ile2775=) c.8161A= (p.Ile2721=) n.55A= c.5335A= (p.Ile1779=) n.565A= c.1437A= c.5359A= (p.Ile1787=) c.8320A= (p.Ile2774=) c.8212A= (p.Ile2738=) c.8194A= (p.Ile2732=) c.4966A= (p.Ile1656=) c.2896A= (p.Ile966=) c.8269A= (p.Ile2757=) c.8215A= (p.Ile2739=) c.8005A= (p.Ile2669=) c.7651A= (p.Ile2551=) c.5548A= (p.Ile1850=) n.8498A= c.8134A= (p.Ile2712=) c.7330A= (p.Ile2444=) c.7135A= (p.Ile2379=) n.8492A= n.8438A= n.8547A= | |
| 5 | g.37153791G>A | CA3237826 | CPLANE1 | n.1321C>T c.8322C>T (p.Asn2774=) c.8160C>T (p.Asn2720=) n.54C>T c.5334C>T (p.Asn1778=) n.564C>T c.1436C>T c.5358C>T (p.Asn1786=) c.8319C>T (p.Asn2773=) c.8211C>T (p.Asn2737=) c.8193C>T (p.Asn2731=) c.4965C>T (p.Asn1655=) c.2895C>T (p.Asn965=) c.8268C>T (p.Asn2756=) c.8214C>T (p.Asn2738=) c.8004C>T (p.Asn2668=) c.7650C>T (p.Asn2550=) c.5547C>T (p.Asn1849=) n.8497C>T c.8133C>T (p.Asn2711=) c.7329C>T (p.Asn2443=) c.7134C>T (p.Asn2378=) n.8491C>T n.8437C>T n.8546C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37153791G>C | CA359473710 | CPLANE1 | n.1321C>G c.8322C>G (p.Asn2774Lys) c.8160C>G (p.Asn2720Lys) n.54C>G c.5334C>G (p.Asn1778Lys) n.564C>G c.1436C>G c.5358C>G (p.Asn1786Lys) c.8319C>G (p.Asn2773Lys) c.8211C>G (p.Asn2737Lys) c.8193C>G (p.Asn2731Lys) c.4965C>G (p.Asn1655Lys) c.2895C>G (p.Asn965Lys) c.8268C>G (p.Asn2756Lys) c.8214C>G (p.Asn2738Lys) c.8004C>G (p.Asn2668Lys) c.7650C>G (p.Asn2550Lys) c.5547C>G (p.Asn1849Lys) n.8497C>G c.8133C>G (p.Asn2711Lys) c.7329C>G (p.Asn2443Lys) c.7134C>G (p.Asn2378Lys) n.8491C>G n.8437C>G n.8546C>G | |
| 5 | g.37153791G= | CA1539651023 | CPLANE1 | n.1321C= c.8322C= (p.Asn2774=) c.8160C= (p.Asn2720=) n.54C= c.5334C= (p.Asn1778=) n.564C= c.1436C= c.5358C= (p.Asn1786=) c.8319C= (p.Asn2773=) c.8211C= (p.Asn2737=) c.8193C= (p.Asn2731=) c.4965C= (p.Asn1655=) c.2895C= (p.Asn965=) c.8268C= (p.Asn2756=) c.8214C= (p.Asn2738=) c.8004C= (p.Asn2668=) c.7650C= (p.Asn2550=) c.5547C= (p.Asn1849=) n.8497C= c.8133C= (p.Asn2711=) c.7329C= (p.Asn2443=) c.7134C= (p.Asn2378=) n.8491C= n.8437C= n.8546C= | |
| 5 | g.37153791G>T | CA359473712 | CPLANE1 | n.1321C>A c.8322C>A (p.Asn2774Lys) c.8160C>A (p.Asn2720Lys) n.54C>A c.5334C>A (p.Asn1778Lys) n.564C>A c.1436C>A c.5358C>A (p.Asn1786Lys) c.8319C>A (p.Asn2773Lys) c.8211C>A (p.Asn2737Lys) c.8193C>A (p.Asn2731Lys) c.4965C>A (p.Asn1655Lys) c.2895C>A (p.Asn965Lys) c.8268C>A (p.Asn2756Lys) c.8214C>A (p.Asn2738Lys) c.8004C>A (p.Asn2668Lys) c.7650C>A (p.Asn2550Lys) c.5547C>A (p.Asn1849Lys) n.8497C>A c.8133C>A (p.Asn2711Lys) c.7329C>A (p.Asn2443Lys) c.7134C>A (p.Asn2378Lys) n.8491C>A n.8437C>A n.8546C>A | |
| 5 | g.37153792T>A | CA359473713 | CPLANE1 | n.1320A>T c.8321A>T (p.Asn2774Ile) c.8159A>T (p.Asn2720Ile) n.53A>T c.5333A>T (p.Asn1778Ile) n.563A>T c.1435A>T c.5357A>T (p.Asn1786Ile) c.8318A>T (p.Asn2773Ile) c.8210A>T (p.Asn2737Ile) c.8192A>T (p.Asn2731Ile) c.4964A>T (p.Asn1655Ile) c.2894A>T (p.Asn965Ile) c.8267A>T (p.Asn2756Ile) c.8213A>T (p.Asn2738Ile) c.8003A>T (p.Asn2668Ile) c.7649A>T (p.Asn2550Ile) c.5546A>T (p.Asn1849Ile) n.8496A>T c.8132A>T (p.Asn2711Ile) c.7328A>T (p.Asn2443Ile) c.7133A>T (p.Asn2378Ile) n.8490A>T n.8436A>T n.8545A>T | |
| 5 | g.37153792T>C | CA359473715 | CPLANE1 | n.1320A>G c.8321A>G (p.Asn2774Ser) c.8159A>G (p.Asn2720Ser) n.53A>G c.5333A>G (p.Asn1778Ser) n.563A>G c.1435A>G c.5357A>G (p.Asn1786Ser) c.8318A>G (p.Asn2773Ser) c.8210A>G (p.Asn2737Ser) c.8192A>G (p.Asn2731Ser) c.4964A>G (p.Asn1655Ser) c.2894A>G (p.Asn965Ser) c.8267A>G (p.Asn2756Ser) c.8213A>G (p.Asn2738Ser) c.8003A>G (p.Asn2668Ser) c.7649A>G (p.Asn2550Ser) c.5546A>G (p.Asn1849Ser) n.8496A>G c.8132A>G (p.Asn2711Ser) c.7328A>G (p.Asn2443Ser) c.7133A>G (p.Asn2378Ser) n.8490A>G n.8436A>G n.8545A>G | |
| 5 | g.37153792T>G | CA359473716 | CPLANE1 | n.1320A>C c.8321A>C (p.Asn2774Thr) c.8159A>C (p.Asn2720Thr) n.53A>C c.5333A>C (p.Asn1778Thr) n.563A>C c.1435A>C c.5357A>C (p.Asn1786Thr) c.8318A>C (p.Asn2773Thr) c.8210A>C (p.Asn2737Thr) c.8192A>C (p.Asn2731Thr) c.4964A>C (p.Asn1655Thr) c.2894A>C (p.Asn965Thr) c.8267A>C (p.Asn2756Thr) c.8213A>C (p.Asn2738Thr) c.8003A>C (p.Asn2668Thr) c.7649A>C (p.Asn2550Thr) c.5546A>C (p.Asn1849Thr) n.8496A>C c.8132A>C (p.Asn2711Thr) c.7328A>C (p.Asn2443Thr) c.7133A>C (p.Asn2378Thr) n.8490A>C n.8436A>C n.8545A>C | |
| 5 | g.37153793T>A | CA359473720 | CPLANE1 | n.1319A>T c.8320A>T (p.Asn2774Tyr) c.8158A>T (p.Asn2720Tyr) n.52A>T c.5332A>T (p.Asn1778Tyr) n.562A>T c.1434A>T c.5356A>T (p.Asn1786Tyr) c.8317A>T (p.Asn2773Tyr) c.8209A>T (p.Asn2737Tyr) c.8191A>T (p.Asn2731Tyr) c.4963A>T (p.Asn1655Tyr) c.2893A>T (p.Asn965Tyr) c.8266A>T (p.Asn2756Tyr) c.8212A>T (p.Asn2738Tyr) c.8002A>T (p.Asn2668Tyr) c.7648A>T (p.Asn2550Tyr) c.5545A>T (p.Asn1849Tyr) n.8495A>T c.8131A>T (p.Asn2711Tyr) c.7327A>T (p.Asn2443Tyr) c.7132A>T (p.Asn2378Tyr) n.8489A>T n.8435A>T n.8544A>T | |
| 5 | g.37153793T>C | CA359473721 | CPLANE1 | n.1319A>G c.8320A>G (p.Asn2774Asp) c.8158A>G (p.Asn2720Asp) n.52A>G c.5332A>G (p.Asn1778Asp) n.562A>G c.1434A>G c.5356A>G (p.Asn1786Asp) c.8317A>G (p.Asn2773Asp) c.8209A>G (p.Asn2737Asp) c.8191A>G (p.Asn2731Asp) c.4963A>G (p.Asn1655Asp) c.2893A>G (p.Asn965Asp) c.8266A>G (p.Asn2756Asp) c.8212A>G (p.Asn2738Asp) c.8002A>G (p.Asn2668Asp) c.7648A>G (p.Asn2550Asp) c.5545A>G (p.Asn1849Asp) n.8495A>G c.8131A>G (p.Asn2711Asp) c.7327A>G (p.Asn2443Asp) c.7132A>G (p.Asn2378Asp) n.8489A>G n.8435A>G n.8544A>G | dbSNP |
| 5 | g.37153793T>G | CA359473718 | CPLANE1 | n.1319A>C c.8320A>C (p.Asn2774His) c.8158A>C (p.Asn2720His) n.52A>C c.5332A>C (p.Asn1778His) n.562A>C c.1434A>C c.5356A>C (p.Asn1786His) c.8317A>C (p.Asn2773His) c.8209A>C (p.Asn2737His) c.8191A>C (p.Asn2731His) c.4963A>C (p.Asn1655His) c.2893A>C (p.Asn965His) c.8266A>C (p.Asn2756His) c.8212A>C (p.Asn2738His) c.8002A>C (p.Asn2668His) c.7648A>C (p.Asn2550His) c.5545A>C (p.Asn1849His) n.8495A>C c.8131A>C (p.Asn2711His) c.7327A>C (p.Asn2443His) c.7132A>C (p.Asn2378His) n.8489A>C n.8435A>C n.8544A>C | |
| 5 | g.37153793T= | CA1539651028 | CPLANE1 | n.1319A= c.8320A= (p.Asn2774=) c.8158A= (p.Asn2720=) n.52A= c.5332A= (p.Asn1778=) n.562A= c.1434A= c.5356A= (p.Asn1786=) c.8317A= (p.Asn2773=) c.8209A= (p.Asn2737=) c.8191A= (p.Asn2731=) c.4963A= (p.Asn1655=) c.2893A= (p.Asn965=) c.8266A= (p.Asn2756=) c.8212A= (p.Asn2738=) c.8002A= (p.Asn2668=) c.7648A= (p.Asn2550=) c.5545A= (p.Asn1849=) n.8495A= c.8131A= (p.Asn2711=) c.7327A= (p.Asn2443=) c.7132A= (p.Asn2378=) n.8489A= n.8435A= n.8544A= | |
| 5 | g.37153794T>A | CA359473725 | CPLANE1 | n.1318A>T c.8319A>T (p.Glu2773Asp) c.8157A>T (p.Glu2719Asp) n.51A>T c.5331A>T (p.Glu1777Asp) n.561A>T c.1433A>T c.5355A>T (p.Glu1785Asp) c.8316A>T (p.Glu2772Asp) c.8208A>T (p.Glu2736Asp) c.8190A>T (p.Glu2730Asp) c.4962A>T (p.Glu1654Asp) c.2892A>T (p.Glu964Asp) c.8265A>T (p.Glu2755Asp) c.8211A>T (p.Glu2737Asp) c.8001A>T (p.Glu2667Asp) c.7647A>T (p.Glu2549Asp) c.5544A>T (p.Glu1848Asp) n.8494A>T c.8130A>T (p.Glu2710Asp) c.7326A>T (p.Glu2442Asp) c.7131A>T (p.Glu2377Asp) n.8488A>T n.8434A>T n.8543A>T | |
| 5 | g.37153794T>C | CA444096628 | CPLANE1 | n.1318A>G c.8319A>G (p.Glu2773=) c.8157A>G (p.Glu2719=) n.51A>G c.5331A>G (p.Glu1777=) n.561A>G c.1433A>G c.5355A>G (p.Glu1785=) c.8316A>G (p.Glu2772=) c.8208A>G (p.Glu2736=) c.8190A>G (p.Glu2730=) c.4962A>G (p.Glu1654=) c.2892A>G (p.Glu964=) c.8265A>G (p.Glu2755=) c.8211A>G (p.Glu2737=) c.8001A>G (p.Glu2667=) c.7647A>G (p.Glu2549=) c.5544A>G (p.Glu1848=) n.8494A>G c.8130A>G (p.Glu2710=) c.7326A>G (p.Glu2442=) c.7131A>G (p.Glu2377=) n.8488A>G n.8434A>G n.8543A>G | |
| 5 | g.37153794T>G | CA359473723 | CPLANE1 | n.1318A>C c.8319A>C (p.Glu2773Asp) c.8157A>C (p.Glu2719Asp) n.51A>C c.5331A>C (p.Glu1777Asp) n.561A>C c.1433A>C c.5355A>C (p.Glu1785Asp) c.8316A>C (p.Glu2772Asp) c.8208A>C (p.Glu2736Asp) c.8190A>C (p.Glu2730Asp) c.4962A>C (p.Glu1654Asp) c.2892A>C (p.Glu964Asp) c.8265A>C (p.Glu2755Asp) c.8211A>C (p.Glu2737Asp) c.8001A>C (p.Glu2667Asp) c.7647A>C (p.Glu2549Asp) c.5544A>C (p.Glu1848Asp) n.8494A>C c.8130A>C (p.Glu2710Asp) c.7326A>C (p.Glu2442Asp) c.7131A>C (p.Glu2377Asp) n.8488A>C n.8434A>C n.8543A>C | |
| 5 | g.37153795T>A | CA359473726 | CPLANE1 | n.1317A>T c.8318A>T (p.Glu2773Val) c.8156A>T (p.Glu2719Val) n.50A>T c.5330A>T (p.Glu1777Val) n.560A>T c.1432A>T c.5354A>T (p.Glu1785Val) c.8315A>T (p.Glu2772Val) c.8207A>T (p.Glu2736Val) c.8189A>T (p.Glu2730Val) c.4961A>T (p.Glu1654Val) c.2891A>T (p.Glu964Val) c.8264A>T (p.Glu2755Val) c.8210A>T (p.Glu2737Val) c.8000A>T (p.Glu2667Val) c.7646A>T (p.Glu2549Val) c.5543A>T (p.Glu1848Val) n.8493A>T c.8129A>T (p.Glu2710Val) c.7325A>T (p.Glu2442Val) c.7130A>T (p.Glu2377Val) n.8487A>T n.8433A>T n.8542A>T | |
| 5 | g.37153795T>C | CA359473728 | CPLANE1 | n.1317A>G c.8318A>G (p.Glu2773Gly) c.8156A>G (p.Glu2719Gly) n.50A>G c.5330A>G (p.Glu1777Gly) n.560A>G c.1432A>G c.5354A>G (p.Glu1785Gly) c.8315A>G (p.Glu2772Gly) c.8207A>G (p.Glu2736Gly) c.8189A>G (p.Glu2730Gly) c.4961A>G (p.Glu1654Gly) c.2891A>G (p.Glu964Gly) c.8264A>G (p.Glu2755Gly) c.8210A>G (p.Glu2737Gly) c.8000A>G (p.Glu2667Gly) c.7646A>G (p.Glu2549Gly) c.5543A>G (p.Glu1848Gly) n.8493A>G c.8129A>G (p.Glu2710Gly) c.7325A>G (p.Glu2442Gly) c.7130A>G (p.Glu2377Gly) n.8487A>G n.8433A>G n.8542A>G | |
| 5 | g.37153795T>G | CA359473729 | CPLANE1 | n.1317A>C c.8318A>C (p.Glu2773Ala) c.8156A>C (p.Glu2719Ala) n.50A>C c.5330A>C (p.Glu1777Ala) n.560A>C c.1432A>C c.5354A>C (p.Glu1785Ala) c.8315A>C (p.Glu2772Ala) c.8207A>C (p.Glu2736Ala) c.8189A>C (p.Glu2730Ala) c.4961A>C (p.Glu1654Ala) c.2891A>C (p.Glu964Ala) c.8264A>C (p.Glu2755Ala) c.8210A>C (p.Glu2737Ala) c.8000A>C (p.Glu2667Ala) c.7646A>C (p.Glu2549Ala) c.5543A>C (p.Glu1848Ala) n.8493A>C c.8129A>C (p.Glu2710Ala) c.7325A>C (p.Glu2442Ala) c.7130A>C (p.Glu2377Ala) n.8487A>C n.8433A>C n.8542A>C | |
| 5 | g.37153796C>A | CA359473730 | CPLANE1 | n.1316G>T c.8317G>T (p.Glu2773Ter) c.8155G>T (p.Glu2719Ter) n.49G>T c.5329G>T (p.Glu1777Ter) n.559G>T c.1431G>T c.5353G>T (p.Glu1785Ter) c.8314G>T (p.Glu2772Ter) c.8206G>T (p.Glu2736Ter) c.8188G>T (p.Glu2730Ter) c.4960G>T (p.Glu1654Ter) c.2890G>T (p.Glu964Ter) c.8263G>T (p.Glu2755Ter) c.8209G>T (p.Glu2737Ter) c.7999G>T (p.Glu2667Ter) c.7645G>T (p.Glu2549Ter) c.5542G>T (p.Glu1848Ter) n.8492G>T c.8128G>T (p.Glu2710Ter) c.7324G>T (p.Glu2442Ter) c.7129G>T (p.Glu2377Ter) n.8486G>T n.8432G>T n.8541G>T | |
| 5 | g.37153796C= | CA1539651032 | CPLANE1 | n.1316G= c.8317G= (p.Glu2773=) c.8155G= (p.Glu2719=) n.49G= c.5329G= (p.Glu1777=) n.559G= c.1431G= c.5353G= (p.Glu1785=) c.8314G= (p.Glu2772=) c.8206G= (p.Glu2736=) c.8188G= (p.Glu2730=) c.4960G= (p.Glu1654=) c.2890G= (p.Glu964=) c.8263G= (p.Glu2755=) c.8209G= (p.Glu2737=) c.7999G= (p.Glu2667=) c.7645G= (p.Glu2549=) c.5542G= (p.Glu1848=) n.8492G= c.8128G= (p.Glu2710=) c.7324G= (p.Glu2442=) c.7129G= (p.Glu2377=) n.8486G= n.8432G= n.8541G= | |
| 5 | g.37153796C>G | CA359473732 | CPLANE1 | n.1316G>C c.8317G>C (p.Glu2773Gln) c.8155G>C (p.Glu2719Gln) n.49G>C c.5329G>C (p.Glu1777Gln) n.559G>C c.1431G>C c.5353G>C (p.Glu1785Gln) c.8314G>C (p.Glu2772Gln) c.8206G>C (p.Glu2736Gln) c.8188G>C (p.Glu2730Gln) c.4960G>C (p.Glu1654Gln) c.2890G>C (p.Glu964Gln) c.8263G>C (p.Glu2755Gln) c.8209G>C (p.Glu2737Gln) c.7999G>C (p.Glu2667Gln) c.7645G>C (p.Glu2549Gln) c.5542G>C (p.Glu1848Gln) n.8492G>C c.8128G>C (p.Glu2710Gln) c.7324G>C (p.Glu2442Gln) c.7129G>C (p.Glu2377Gln) n.8486G>C n.8432G>C n.8541G>C | |
| 5 | g.37153796C>T | CA359473733 | CPLANE1 | n.1316G>A c.8317G>A (p.Glu2773Lys) c.8155G>A (p.Glu2719Lys) n.49G>A c.5329G>A (p.Glu1777Lys) n.559G>A c.1431G>A c.5353G>A (p.Glu1785Lys) c.8314G>A (p.Glu2772Lys) c.8206G>A (p.Glu2736Lys) c.8188G>A (p.Glu2730Lys) c.4960G>A (p.Glu1654Lys) c.2890G>A (p.Glu964Lys) c.8263G>A (p.Glu2755Lys) c.8209G>A (p.Glu2737Lys) c.7999G>A (p.Glu2667Lys) c.7645G>A (p.Glu2549Lys) c.5542G>A (p.Glu1848Lys) n.8492G>A c.8128G>A (p.Glu2710Lys) c.7324G>A (p.Glu2442Lys) c.7129G>A (p.Glu2377Lys) n.8486G>A n.8432G>A n.8541G>A | dbSNP gnomAD v2 |
| 5 | g.37153797A>C | CA444096629 | CPLANE1 | n.1315T>G c.8316T>G (p.Ala2772=) c.8154T>G (p.Ala2718=) n.48T>G c.5328T>G (p.Ala1776=) n.558T>G c.1430T>G c.5352T>G (p.Ala1784=) c.8313T>G (p.Ala2771=) c.8205T>G (p.Ala2735=) c.8187T>G (p.Ala2729=) c.4959T>G (p.Ala1653=) c.2889T>G (p.Ala963=) c.8262T>G (p.Ala2754=) c.8208T>G (p.Ala2736=) c.7998T>G (p.Ala2666=) c.7644T>G (p.Ala2548=) c.5541T>G (p.Ala1847=) n.8491T>G c.8127T>G (p.Ala2709=) c.7323T>G (p.Ala2441=) c.7128T>G (p.Ala2376=) n.8485T>G n.8431T>G n.8540T>G | |
| 5 | g.37153797A>G | CA444096630 | CPLANE1 | n.1315T>C c.8316T>C (p.Ala2772=) c.8154T>C (p.Ala2718=) n.48T>C c.5328T>C (p.Ala1776=) n.558T>C c.1430T>C c.5352T>C (p.Ala1784=) c.8313T>C (p.Ala2771=) c.8205T>C (p.Ala2735=) c.8187T>C (p.Ala2729=) c.4959T>C (p.Ala1653=) c.2889T>C (p.Ala963=) c.8262T>C (p.Ala2754=) c.8208T>C (p.Ala2736=) c.7998T>C (p.Ala2666=) c.7644T>C (p.Ala2548=) c.5541T>C (p.Ala1847=) n.8491T>C c.8127T>C (p.Ala2709=) c.7323T>C (p.Ala2441=) c.7128T>C (p.Ala2376=) n.8485T>C n.8431T>C n.8540T>C | gnomAD v4 |
| 5 | g.37153797A>T | CA444096631 | CPLANE1 | n.1315T>A c.8316T>A (p.Ala2772=) c.8154T>A (p.Ala2718=) n.48T>A c.5328T>A (p.Ala1776=) n.558T>A c.1430T>A c.5352T>A (p.Ala1784=) c.8313T>A (p.Ala2771=) c.8205T>A (p.Ala2735=) c.8187T>A (p.Ala2729=) c.4959T>A (p.Ala1653=) c.2889T>A (p.Ala963=) c.8262T>A (p.Ala2754=) c.8208T>A (p.Ala2736=) c.7998T>A (p.Ala2666=) c.7644T>A (p.Ala2548=) c.5541T>A (p.Ala1847=) n.8491T>A c.8127T>A (p.Ala2709=) c.7323T>A (p.Ala2441=) c.7128T>A (p.Ala2376=) n.8485T>A n.8431T>A n.8540T>A | |
| 5 | g.37153798G>A | CA359473734 | CPLANE1 | n.1314C>T c.8315C>T (p.Ala2772Val) c.8153C>T (p.Ala2718Val) n.47C>T c.5327C>T (p.Ala1776Val) n.557C>T c.1429C>T c.5351C>T (p.Ala1784Val) c.8312C>T (p.Ala2771Val) c.8204C>T (p.Ala2735Val) c.8186C>T (p.Ala2729Val) c.4958C>T (p.Ala1653Val) c.2888C>T (p.Ala963Val) c.8261C>T (p.Ala2754Val) c.8207C>T (p.Ala2736Val) c.7997C>T (p.Ala2666Val) c.7643C>T (p.Ala2548Val) c.5540C>T (p.Ala1847Val) n.8490C>T c.8126C>T (p.Ala2709Val) c.7322C>T (p.Ala2441Val) c.7127C>T (p.Ala2376Val) n.8484C>T n.8430C>T n.8539C>T | |
| 5 | g.37153798G>C | CA359473737 | CPLANE1 | n.1314C>G c.8315C>G (p.Ala2772Gly) c.8153C>G (p.Ala2718Gly) n.47C>G c.5327C>G (p.Ala1776Gly) n.557C>G c.1429C>G c.5351C>G (p.Ala1784Gly) c.8312C>G (p.Ala2771Gly) c.8204C>G (p.Ala2735Gly) c.8186C>G (p.Ala2729Gly) c.4958C>G (p.Ala1653Gly) c.2888C>G (p.Ala963Gly) c.8261C>G (p.Ala2754Gly) c.8207C>G (p.Ala2736Gly) c.7997C>G (p.Ala2666Gly) c.7643C>G (p.Ala2548Gly) c.5540C>G (p.Ala1847Gly) n.8490C>G c.8126C>G (p.Ala2709Gly) c.7322C>G (p.Ala2441Gly) c.7127C>G (p.Ala2376Gly) n.8484C>G n.8430C>G n.8539C>G | |
| 5 | g.37153798G>T | CA359473736 | CPLANE1 | n.1314C>A c.8315C>A (p.Ala2772Asp) c.8153C>A (p.Ala2718Asp) n.47C>A c.5327C>A (p.Ala1776Asp) n.557C>A c.1429C>A c.5351C>A (p.Ala1784Asp) c.8312C>A (p.Ala2771Asp) c.8204C>A (p.Ala2735Asp) c.8186C>A (p.Ala2729Asp) c.4958C>A (p.Ala1653Asp) c.2888C>A (p.Ala963Asp) c.8261C>A (p.Ala2754Asp) c.8207C>A (p.Ala2736Asp) c.7997C>A (p.Ala2666Asp) c.7643C>A (p.Ala2548Asp) c.5540C>A (p.Ala1847Asp) n.8490C>A c.8126C>A (p.Ala2709Asp) c.7322C>A (p.Ala2441Asp) c.7127C>A (p.Ala2376Asp) n.8484C>A n.8430C>A n.8539C>A | |
| 5 | g.37153799C>A | CA359473739 | CPLANE1 | n.1313G>T c.8314G>T (p.Ala2772Ser) c.8152G>T (p.Ala2718Ser) n.46G>T c.5326G>T (p.Ala1776Ser) n.556G>T c.1428G>T c.5350G>T (p.Ala1784Ser) c.8311G>T (p.Ala2771Ser) c.8203G>T (p.Ala2735Ser) c.8185G>T (p.Ala2729Ser) c.4957G>T (p.Ala1653Ser) c.2887G>T (p.Ala963Ser) c.8260G>T (p.Ala2754Ser) c.8206G>T (p.Ala2736Ser) c.7996G>T (p.Ala2666Ser) c.7642G>T (p.Ala2548Ser) c.5539G>T (p.Ala1847Ser) n.8489G>T c.8125G>T (p.Ala2709Ser) c.7321G>T (p.Ala2441Ser) c.7126G>T (p.Ala2376Ser) n.8483G>T n.8429G>T n.8538G>T | |
| 5 | g.37153799C= | CA1539651034 | CPLANE1 | n.1313G= c.8314G= (p.Ala2772=) c.8152G= (p.Ala2718=) n.46G= c.5326G= (p.Ala1776=) n.556G= c.1428G= c.5350G= (p.Ala1784=) c.8311G= (p.Ala2771=) c.8203G= (p.Ala2735=) c.8185G= (p.Ala2729=) c.4957G= (p.Ala1653=) c.2887G= (p.Ala963=) c.8260G= (p.Ala2754=) c.8206G= (p.Ala2736=) c.7996G= (p.Ala2666=) c.7642G= (p.Ala2548=) c.5539G= (p.Ala1847=) n.8489G= c.8125G= (p.Ala2709=) c.7321G= (p.Ala2441=) c.7126G= (p.Ala2376=) n.8483G= n.8429G= n.8538G= | |
| 5 | g.37153799C>G | CA359473741 | CPLANE1 | n.1313G>C c.8314G>C (p.Ala2772Pro) c.8152G>C (p.Ala2718Pro) n.46G>C c.5326G>C (p.Ala1776Pro) n.556G>C c.1428G>C c.5350G>C (p.Ala1784Pro) c.8311G>C (p.Ala2771Pro) c.8203G>C (p.Ala2735Pro) c.8185G>C (p.Ala2729Pro) c.4957G>C (p.Ala1653Pro) c.2887G>C (p.Ala963Pro) c.8260G>C (p.Ala2754Pro) c.8206G>C (p.Ala2736Pro) c.7996G>C (p.Ala2666Pro) c.7642G>C (p.Ala2548Pro) c.5539G>C (p.Ala1847Pro) n.8489G>C c.8125G>C (p.Ala2709Pro) c.7321G>C (p.Ala2441Pro) c.7126G>C (p.Ala2376Pro) n.8483G>C n.8429G>C n.8538G>C | |
| 5 | g.37153799C>T | CA3237827 | CPLANE1 | n.1313G>A c.8314G>A (p.Ala2772Thr) c.8152G>A (p.Ala2718Thr) n.46G>A c.5326G>A (p.Ala1776Thr) n.556G>A c.1428G>A c.5350G>A (p.Ala1784Thr) c.8311G>A (p.Ala2771Thr) c.8203G>A (p.Ala2735Thr) c.8185G>A (p.Ala2729Thr) c.4957G>A (p.Ala1653Thr) c.2887G>A (p.Ala963Thr) c.8260G>A (p.Ala2754Thr) c.8206G>A (p.Ala2736Thr) c.7996G>A (p.Ala2666Thr) c.7642G>A (p.Ala2548Thr) c.5539G>A (p.Ala1847Thr) n.8489G>A c.8125G>A (p.Ala2709Thr) c.7321G>A (p.Ala2441Thr) c.7126G>A (p.Ala2376Thr) n.8483G>A n.8429G>A n.8538G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37153800A>C | CA359473743 | CPLANE1 | n.1312T>G c.8313T>G (p.Ile2771Met) c.8151T>G (p.Ile2717Met) n.45T>G c.5325T>G (p.Ile1775Met) n.555T>G c.1427T>G c.5349T>G (p.Ile1783Met) c.8310T>G (p.Ile2770Met) c.8202T>G (p.Ile2734Met) c.8184T>G (p.Ile2728Met) c.4956T>G (p.Ile1652Met) c.2886T>G (p.Ile962Met) c.8259T>G (p.Ile2753Met) c.8205T>G (p.Ile2735Met) c.7995T>G (p.Ile2665Met) c.7641T>G (p.Ile2547Met) c.5538T>G (p.Ile1846Met) n.8488T>G c.8124T>G (p.Ile2708Met) c.7320T>G (p.Ile2440Met) c.7125T>G (p.Ile2375Met) n.8482T>G n.8428T>G n.8537T>G | |
| 5 | g.37153800A>G | CA444096633 | CPLANE1 | n.1312T>C c.8313T>C (p.Ile2771=) c.8151T>C (p.Ile2717=) n.45T>C c.5325T>C (p.Ile1775=) n.555T>C c.1427T>C c.5349T>C (p.Ile1783=) c.8310T>C (p.Ile2770=) c.8202T>C (p.Ile2734=) c.8184T>C (p.Ile2728=) c.4956T>C (p.Ile1652=) c.2886T>C (p.Ile962=) c.8259T>C (p.Ile2753=) c.8205T>C (p.Ile2735=) c.7995T>C (p.Ile2665=) c.7641T>C (p.Ile2547=) c.5538T>C (p.Ile1846=) n.8488T>C c.8124T>C (p.Ile2708=) c.7320T>C (p.Ile2440=) c.7125T>C (p.Ile2375=) n.8482T>C n.8428T>C n.8537T>C | |
| 5 | g.37153800A>T | CA444096634 | CPLANE1 | n.1312T>A c.8313T>A (p.Ile2771=) c.8151T>A (p.Ile2717=) n.45T>A c.5325T>A (p.Ile1775=) n.555T>A c.1427T>A c.5349T>A (p.Ile1783=) c.8310T>A (p.Ile2770=) c.8202T>A (p.Ile2734=) c.8184T>A (p.Ile2728=) c.4956T>A (p.Ile1652=) c.2886T>A (p.Ile962=) c.8259T>A (p.Ile2753=) c.8205T>A (p.Ile2735=) c.7995T>A (p.Ile2665=) c.7641T>A (p.Ile2547=) c.5538T>A (p.Ile1846=) n.8488T>A c.8124T>A (p.Ile2708=) c.7320T>A (p.Ile2440=) c.7125T>A (p.Ile2375=) n.8482T>A n.8428T>A n.8537T>A | |
| 5 | g.37153801A>C | CA359473745 | CPLANE1 | n.1311T>G c.8312T>G (p.Ile2771Ser) c.8150T>G (p.Ile2717Ser) n.44T>G c.5324T>G (p.Ile1775Ser) n.554T>G c.1426T>G c.5348T>G (p.Ile1783Ser) c.8309T>G (p.Ile2770Ser) c.8201T>G (p.Ile2734Ser) c.8183T>G (p.Ile2728Ser) c.4955T>G (p.Ile1652Ser) c.2885T>G (p.Ile962Ser) c.8258T>G (p.Ile2753Ser) c.8204T>G (p.Ile2735Ser) c.7994T>G (p.Ile2665Ser) c.7640T>G (p.Ile2547Ser) c.5537T>G (p.Ile1846Ser) n.8487T>G c.8123T>G (p.Ile2708Ser) c.7319T>G (p.Ile2440Ser) c.7124T>G (p.Ile2375Ser) n.8481T>G n.8427T>G n.8536T>G | |
| 5 | g.37153801A>G | CA359473748 | CPLANE1 | n.1311T>C c.8312T>C (p.Ile2771Thr) c.8150T>C (p.Ile2717Thr) n.44T>C c.5324T>C (p.Ile1775Thr) n.554T>C c.1426T>C c.5348T>C (p.Ile1783Thr) c.8309T>C (p.Ile2770Thr) c.8201T>C (p.Ile2734Thr) c.8183T>C (p.Ile2728Thr) c.4955T>C (p.Ile1652Thr) c.2885T>C (p.Ile962Thr) c.8258T>C (p.Ile2753Thr) c.8204T>C (p.Ile2735Thr) c.7994T>C (p.Ile2665Thr) c.7640T>C (p.Ile2547Thr) c.5537T>C (p.Ile1846Thr) n.8487T>C c.8123T>C (p.Ile2708Thr) c.7319T>C (p.Ile2440Thr) c.7124T>C (p.Ile2375Thr) n.8481T>C n.8427T>C n.8536T>C | |
| 5 | g.37153801A>T | CA359473746 | CPLANE1 | n.1311T>A c.8312T>A (p.Ile2771Asn) c.8150T>A (p.Ile2717Asn) n.44T>A c.5324T>A (p.Ile1775Asn) n.554T>A c.1426T>A c.5348T>A (p.Ile1783Asn) c.8309T>A (p.Ile2770Asn) c.8201T>A (p.Ile2734Asn) c.8183T>A (p.Ile2728Asn) c.4955T>A (p.Ile1652Asn) c.2885T>A (p.Ile962Asn) c.8258T>A (p.Ile2753Asn) c.8204T>A (p.Ile2735Asn) c.7994T>A (p.Ile2665Asn) c.7640T>A (p.Ile2547Asn) c.5537T>A (p.Ile1846Asn) n.8487T>A c.8123T>A (p.Ile2708Asn) c.7319T>A (p.Ile2440Asn) c.7124T>A (p.Ile2375Asn) n.8481T>A n.8427T>A n.8536T>A | |
| 5 | g.37153802T>A | CA359473750 | CPLANE1 | n.1310A>T c.8311A>T (p.Ile2771Phe) c.8149A>T (p.Ile2717Phe) n.43A>T c.5323A>T (p.Ile1775Phe) n.553A>T c.1425A>T c.5347A>T (p.Ile1783Phe) c.8308A>T (p.Ile2770Phe) c.8200A>T (p.Ile2734Phe) c.8182A>T (p.Ile2728Phe) c.4954A>T (p.Ile1652Phe) c.2884A>T (p.Ile962Phe) c.8257A>T (p.Ile2753Phe) c.8203A>T (p.Ile2735Phe) c.7993A>T (p.Ile2665Phe) c.7639A>T (p.Ile2547Phe) c.5536A>T (p.Ile1846Phe) n.8486A>T c.8122A>T (p.Ile2708Phe) c.7318A>T (p.Ile2440Phe) c.7123A>T (p.Ile2375Phe) n.8480A>T n.8426A>T n.8535A>T | |
| 5 | g.37153802T>C | CA359473752 | CPLANE1 | n.1310A>G c.8311A>G (p.Ile2771Val) c.8149A>G (p.Ile2717Val) n.43A>G c.5323A>G (p.Ile1775Val) n.553A>G c.1425A>G c.5347A>G (p.Ile1783Val) c.8308A>G (p.Ile2770Val) c.8200A>G (p.Ile2734Val) c.8182A>G (p.Ile2728Val) c.4954A>G (p.Ile1652Val) c.2884A>G (p.Ile962Val) c.8257A>G (p.Ile2753Val) c.8203A>G (p.Ile2735Val) c.7993A>G (p.Ile2665Val) c.7639A>G (p.Ile2547Val) c.5536A>G (p.Ile1846Val) n.8486A>G c.8122A>G (p.Ile2708Val) c.7318A>G (p.Ile2440Val) c.7123A>G (p.Ile2375Val) n.8480A>G n.8426A>G n.8535A>G | |
| 5 | g.37153802T>G | CA359473753 | CPLANE1 | n.1310A>C c.8311A>C (p.Ile2771Leu) c.8149A>C (p.Ile2717Leu) n.43A>C c.5323A>C (p.Ile1775Leu) n.553A>C c.1425A>C c.5347A>C (p.Ile1783Leu) c.8308A>C (p.Ile2770Leu) c.8200A>C (p.Ile2734Leu) c.8182A>C (p.Ile2728Leu) c.4954A>C (p.Ile1652Leu) c.2884A>C (p.Ile962Leu) c.8257A>C (p.Ile2753Leu) c.8203A>C (p.Ile2735Leu) c.7993A>C (p.Ile2665Leu) c.7639A>C (p.Ile2547Leu) c.5536A>C (p.Ile1846Leu) n.8486A>C c.8122A>C (p.Ile2708Leu) c.7318A>C (p.Ile2440Leu) c.7123A>C (p.Ile2375Leu) n.8480A>C n.8426A>C n.8535A>C | |
| 5 | g.37153803G>A | CA444096637 | CPLANE1 | n.1309C>T c.8310C>T (p.Asn2770=) c.8148C>T (p.Asn2716=) n.42C>T c.5322C>T (p.Asn1774=) n.552C>T c.1424C>T c.5346C>T (p.Asn1782=) c.8307C>T (p.Asn2769=) c.8199C>T (p.Asn2733=) c.8181C>T (p.Asn2727=) c.4953C>T (p.Asn1651=) c.2883C>T (p.Asn961=) c.8256C>T (p.Asn2752=) c.8202C>T (p.Asn2734=) c.7992C>T (p.Asn2664=) c.7638C>T (p.Asn2546=) c.5535C>T (p.Asn1845=) n.8485C>T c.8121C>T (p.Asn2707=) c.7317C>T (p.Asn2439=) c.7122C>T (p.Asn2374=) n.8479C>T n.8425C>T n.8534C>T | |
| 5 | g.37153803G>C | CA359473755 | CPLANE1 | n.1309C>G c.8310C>G (p.Asn2770Lys) c.8148C>G (p.Asn2716Lys) n.42C>G c.5322C>G (p.Asn1774Lys) n.552C>G c.1424C>G c.5346C>G (p.Asn1782Lys) c.8307C>G (p.Asn2769Lys) c.8199C>G (p.Asn2733Lys) c.8181C>G (p.Asn2727Lys) c.4953C>G (p.Asn1651Lys) c.2883C>G (p.Asn961Lys) c.8256C>G (p.Asn2752Lys) c.8202C>G (p.Asn2734Lys) c.7992C>G (p.Asn2664Lys) c.7638C>G (p.Asn2546Lys) c.5535C>G (p.Asn1845Lys) n.8485C>G c.8121C>G (p.Asn2707Lys) c.7317C>G (p.Asn2439Lys) c.7122C>G (p.Asn2374Lys) n.8479C>G n.8425C>G n.8534C>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37153803G= | CA1539651036 | CPLANE1 | n.1309C= c.8310C= (p.Asn2770=) c.8148C= (p.Asn2716=) n.42C= c.5322C= (p.Asn1774=) n.552C= c.1424C= c.5346C= (p.Asn1782=) c.8307C= (p.Asn2769=) c.8199C= (p.Asn2733=) c.8181C= (p.Asn2727=) c.4953C= (p.Asn1651=) c.2883C= (p.Asn961=) c.8256C= (p.Asn2752=) c.8202C= (p.Asn2734=) c.7992C= (p.Asn2664=) c.7638C= (p.Asn2546=) c.5535C= (p.Asn1845=) n.8485C= c.8121C= (p.Asn2707=) c.7317C= (p.Asn2439=) c.7122C= (p.Asn2374=) n.8479C= n.8425C= n.8534C= | |
| 5 | g.37153803G>T | CA359473756 | CPLANE1 | n.1309C>A c.8310C>A (p.Asn2770Lys) c.8148C>A (p.Asn2716Lys) n.42C>A c.5322C>A (p.Asn1774Lys) n.552C>A c.1424C>A c.5346C>A (p.Asn1782Lys) c.8307C>A (p.Asn2769Lys) c.8199C>A (p.Asn2733Lys) c.8181C>A (p.Asn2727Lys) c.4953C>A (p.Asn1651Lys) c.2883C>A (p.Asn961Lys) c.8256C>A (p.Asn2752Lys) c.8202C>A (p.Asn2734Lys) c.7992C>A (p.Asn2664Lys) c.7638C>A (p.Asn2546Lys) c.5535C>A (p.Asn1845Lys) n.8485C>A c.8121C>A (p.Asn2707Lys) c.7317C>A (p.Asn2439Lys) c.7122C>A (p.Asn2374Lys) n.8479C>A n.8425C>A n.8534C>A | |
| 5 | g.37153804T>A | CA359473758 | CPLANE1 | n.1308A>T c.8309A>T (p.Asn2770Ile) c.8147A>T (p.Asn2716Ile) n.41A>T c.5321A>T (p.Asn1774Ile) n.551A>T c.1423A>T c.5345A>T (p.Asn1782Ile) c.8306A>T (p.Asn2769Ile) c.8198A>T (p.Asn2733Ile) c.8180A>T (p.Asn2727Ile) c.4952A>T (p.Asn1651Ile) c.2882A>T (p.Asn961Ile) c.8255A>T (p.Asn2752Ile) c.8201A>T (p.Asn2734Ile) c.7991A>T (p.Asn2664Ile) c.7637A>T (p.Asn2546Ile) c.5534A>T (p.Asn1845Ile) n.8484A>T c.8120A>T (p.Asn2707Ile) c.7316A>T (p.Asn2439Ile) c.7121A>T (p.Asn2374Ile) n.8478A>T n.8424A>T n.8533A>T | |
| 5 | g.37153804T>C | CA359473760 | CPLANE1 | n.1308A>G c.8309A>G (p.Asn2770Ser) c.8147A>G (p.Asn2716Ser) n.41A>G c.5321A>G (p.Asn1774Ser) n.551A>G c.1423A>G c.5345A>G (p.Asn1782Ser) c.8306A>G (p.Asn2769Ser) c.8198A>G (p.Asn2733Ser) c.8180A>G (p.Asn2727Ser) c.4952A>G (p.Asn1651Ser) c.2882A>G (p.Asn961Ser) c.8255A>G (p.Asn2752Ser) c.8201A>G (p.Asn2734Ser) c.7991A>G (p.Asn2664Ser) c.7637A>G (p.Asn2546Ser) c.5534A>G (p.Asn1845Ser) n.8484A>G c.8120A>G (p.Asn2707Ser) c.7316A>G (p.Asn2439Ser) c.7121A>G (p.Asn2374Ser) n.8478A>G n.8424A>G n.8533A>G | |
| 5 | g.37153804T>G | CA359473761 | CPLANE1 | n.1308A>C c.8309A>C (p.Asn2770Thr) c.8147A>C (p.Asn2716Thr) n.41A>C c.5321A>C (p.Asn1774Thr) n.551A>C c.1423A>C c.5345A>C (p.Asn1782Thr) c.8306A>C (p.Asn2769Thr) c.8198A>C (p.Asn2733Thr) c.8180A>C (p.Asn2727Thr) c.4952A>C (p.Asn1651Thr) c.2882A>C (p.Asn961Thr) c.8255A>C (p.Asn2752Thr) c.8201A>C (p.Asn2734Thr) c.7991A>C (p.Asn2664Thr) c.7637A>C (p.Asn2546Thr) c.5534A>C (p.Asn1845Thr) n.8484A>C c.8120A>C (p.Asn2707Thr) c.7316A>C (p.Asn2439Thr) c.7121A>C (p.Asn2374Thr) n.8478A>C n.8424A>C n.8533A>C | |
| 5 | g.37153805T>A | CA359473763 | CPLANE1 | n.1307A>T c.8308A>T (p.Asn2770Tyr) c.8146A>T (p.Asn2716Tyr) n.40A>T c.5320A>T (p.Asn1774Tyr) n.550A>T c.1422A>T c.5344A>T (p.Asn1782Tyr) c.8305A>T (p.Asn2769Tyr) c.8197A>T (p.Asn2733Tyr) c.8179A>T (p.Asn2727Tyr) c.4951A>T (p.Asn1651Tyr) c.2881A>T (p.Asn961Tyr) c.8254A>T (p.Asn2752Tyr) c.8200A>T (p.Asn2734Tyr) c.7990A>T (p.Asn2664Tyr) c.7636A>T (p.Asn2546Tyr) c.5533A>T (p.Asn1845Tyr) n.8483A>T c.8119A>T (p.Asn2707Tyr) c.7315A>T (p.Asn2439Tyr) c.7120A>T (p.Asn2374Tyr) n.8477A>T n.8423A>T n.8532A>T | |
| 5 | g.37153805T>C | CA359473765 | CPLANE1 | n.1307A>G c.8308A>G (p.Asn2770Asp) c.8146A>G (p.Asn2716Asp) n.40A>G c.5320A>G (p.Asn1774Asp) n.550A>G c.1422A>G c.5344A>G (p.Asn1782Asp) c.8305A>G (p.Asn2769Asp) c.8197A>G (p.Asn2733Asp) c.8179A>G (p.Asn2727Asp) c.4951A>G (p.Asn1651Asp) c.2881A>G (p.Asn961Asp) c.8254A>G (p.Asn2752Asp) c.8200A>G (p.Asn2734Asp) c.7990A>G (p.Asn2664Asp) c.7636A>G (p.Asn2546Asp) c.5533A>G (p.Asn1845Asp) n.8483A>G c.8119A>G (p.Asn2707Asp) c.7315A>G (p.Asn2439Asp) c.7120A>G (p.Asn2374Asp) n.8477A>G n.8423A>G n.8532A>G | |
| 5 | g.37153805T>G | CA359473766 | CPLANE1 | n.1307A>C c.8308A>C (p.Asn2770His) c.8146A>C (p.Asn2716His) n.40A>C c.5320A>C (p.Asn1774His) n.550A>C c.1422A>C c.5344A>C (p.Asn1782His) c.8305A>C (p.Asn2769His) c.8197A>C (p.Asn2733His) c.8179A>C (p.Asn2727His) c.4951A>C (p.Asn1651His) c.2881A>C (p.Asn961His) c.8254A>C (p.Asn2752His) c.8200A>C (p.Asn2734His) c.7990A>C (p.Asn2664His) c.7636A>C (p.Asn2546His) c.5533A>C (p.Asn1845His) n.8483A>C c.8119A>C (p.Asn2707His) c.7315A>C (p.Asn2439His) c.7120A>C (p.Asn2374His) n.8477A>C n.8423A>C n.8532A>C | |
| 5 | g.37153806C>A | CA359473770 | CPLANE1 | n.1306G>T c.8307G>T (p.Gln2769His) c.8145G>T (p.Gln2715His) n.39G>T c.5319G>T (p.Gln1773His) n.549G>T c.1421G>T c.5343G>T (p.Gln1781His) c.8304G>T (p.Gln2768His) c.8196G>T (p.Gln2732His) c.8178G>T (p.Gln2726His) c.4950G>T (p.Gln1650His) c.2880G>T (p.Gln960His) c.8253G>T (p.Gln2751His) c.8199G>T (p.Gln2733His) c.7989G>T (p.Gln2663His) c.7635G>T (p.Gln2545His) c.5532G>T (p.Gln1844His) n.8482G>T c.8118G>T (p.Gln2706His) c.7314G>T (p.Gln2438His) c.7119G>T (p.Gln2373His) n.8476G>T n.8422G>T n.8531G>T | |
| 5 | g.37153806C>G | CA359473768 | CPLANE1 | n.1306G>C c.8307G>C (p.Gln2769His) c.8145G>C (p.Gln2715His) n.39G>C c.5319G>C (p.Gln1773His) n.549G>C c.1421G>C c.5343G>C (p.Gln1781His) c.8304G>C (p.Gln2768His) c.8196G>C (p.Gln2732His) c.8178G>C (p.Gln2726His) c.4950G>C (p.Gln1650His) c.2880G>C (p.Gln960His) c.8253G>C (p.Gln2751His) c.8199G>C (p.Gln2733His) c.7989G>C (p.Gln2663His) c.7635G>C (p.Gln2545His) c.5532G>C (p.Gln1844His) n.8482G>C c.8118G>C (p.Gln2706His) c.7314G>C (p.Gln2438His) c.7119G>C (p.Gln2373His) n.8476G>C n.8422G>C n.8531G>C | |
| 5 | g.37153806C>T | CA444096640 | CPLANE1 | n.1306G>A c.8307G>A (p.Gln2769=) c.8145G>A (p.Gln2715=) n.39G>A c.5319G>A (p.Gln1773=) n.549G>A c.1421G>A c.5343G>A (p.Gln1781=) c.8304G>A (p.Gln2768=) c.8196G>A (p.Gln2732=) c.8178G>A (p.Gln2726=) c.4950G>A (p.Gln1650=) c.2880G>A (p.Gln960=) c.8253G>A (p.Gln2751=) c.8199G>A (p.Gln2733=) c.7989G>A (p.Gln2663=) c.7635G>A (p.Gln2545=) c.5532G>A (p.Gln1844=) n.8482G>A c.8118G>A (p.Gln2706=) c.7314G>A (p.Gln2438=) c.7119G>A (p.Gln2373=) n.8476G>A n.8422G>A n.8531G>A | |
| 5 | g.37153807T>A | CA359473772 | CPLANE1 | n.1305A>T c.8306A>T (p.Gln2769Leu) c.8144A>T (p.Gln2715Leu) n.38A>T c.5318A>T (p.Gln1773Leu) n.548A>T c.1420A>T c.5342A>T (p.Gln1781Leu) c.8303A>T (p.Gln2768Leu) c.8195A>T (p.Gln2732Leu) c.8177A>T (p.Gln2726Leu) c.4949A>T (p.Gln1650Leu) c.2879A>T (p.Gln960Leu) c.8252A>T (p.Gln2751Leu) c.8198A>T (p.Gln2733Leu) c.7988A>T (p.Gln2663Leu) c.7634A>T (p.Gln2545Leu) c.5531A>T (p.Gln1844Leu) n.8481A>T c.8117A>T (p.Gln2706Leu) c.7313A>T (p.Gln2438Leu) c.7118A>T (p.Gln2373Leu) n.8475A>T n.8421A>T n.8530A>T | |
| 5 | g.37153807T>C | CA359473775 | CPLANE1 | n.1305A>G c.8306A>G (p.Gln2769Arg) c.8144A>G (p.Gln2715Arg) n.38A>G c.5318A>G (p.Gln1773Arg) n.548A>G c.1420A>G c.5342A>G (p.Gln1781Arg) c.8303A>G (p.Gln2768Arg) c.8195A>G (p.Gln2732Arg) c.8177A>G (p.Gln2726Arg) c.4949A>G (p.Gln1650Arg) c.2879A>G (p.Gln960Arg) c.8252A>G (p.Gln2751Arg) c.8198A>G (p.Gln2733Arg) c.7988A>G (p.Gln2663Arg) c.7634A>G (p.Gln2545Arg) c.5531A>G (p.Gln1844Arg) n.8481A>G c.8117A>G (p.Gln2706Arg) c.7313A>G (p.Gln2438Arg) c.7118A>G (p.Gln2373Arg) n.8475A>G n.8421A>G n.8530A>G | dbSNP |
| 5 | g.37153807T>G | CA359473773 | CPLANE1 | n.1305A>C c.8306A>C (p.Gln2769Pro) c.8144A>C (p.Gln2715Pro) n.38A>C c.5318A>C (p.Gln1773Pro) n.548A>C c.1420A>C c.5342A>C (p.Gln1781Pro) c.8303A>C (p.Gln2768Pro) c.8195A>C (p.Gln2732Pro) c.8177A>C (p.Gln2726Pro) c.4949A>C (p.Gln1650Pro) c.2879A>C (p.Gln960Pro) c.8252A>C (p.Gln2751Pro) c.8198A>C (p.Gln2733Pro) c.7988A>C (p.Gln2663Pro) c.7634A>C (p.Gln2545Pro) c.5531A>C (p.Gln1844Pro) n.8481A>C c.8117A>C (p.Gln2706Pro) c.7313A>C (p.Gln2438Pro) c.7118A>C (p.Gln2373Pro) n.8475A>C n.8421A>C n.8530A>C | |
| 5 | g.37153807T= | CA1539651039 | CPLANE1 | n.1305A= c.8306A= (p.Gln2769=) c.8144A= (p.Gln2715=) n.38A= c.5318A= (p.Gln1773=) n.548A= c.1420A= c.5342A= (p.Gln1781=) c.8303A= (p.Gln2768=) c.8195A= (p.Gln2732=) c.8177A= (p.Gln2726=) c.4949A= (p.Gln1650=) c.2879A= (p.Gln960=) c.8252A= (p.Gln2751=) c.8198A= (p.Gln2733=) c.7988A= (p.Gln2663=) c.7634A= (p.Gln2545=) c.5531A= (p.Gln1844=) n.8481A= c.8117A= (p.Gln2706=) c.7313A= (p.Gln2438=) c.7118A= (p.Gln2373=) n.8475A= n.8421A= n.8530A= | |
| 5 | g.37153808G>A | CA359473777 | CPLANE1 | n.1304C>T c.8305C>T (p.Gln2769Ter) c.8143C>T (p.Gln2715Ter) n.37C>T c.5317C>T (p.Gln1773Ter) n.547C>T c.1419C>T c.5341C>T (p.Gln1781Ter) c.8302C>T (p.Gln2768Ter) c.8194C>T (p.Gln2732Ter) c.8176C>T (p.Gln2726Ter) c.4948C>T (p.Gln1650Ter) c.2878C>T (p.Gln960Ter) c.8251C>T (p.Gln2751Ter) c.8197C>T (p.Gln2733Ter) c.7987C>T (p.Gln2663Ter) c.7633C>T (p.Gln2545Ter) c.5530C>T (p.Gln1844Ter) n.8480C>T c.8116C>T (p.Gln2706Ter) c.7312C>T (p.Gln2438Ter) c.7117C>T (p.Gln2373Ter) n.8474C>T n.8420C>T n.8529C>T | gnomAD v4 |
| 5 | g.37153808G>C | CA359473778 | CPLANE1 | n.1304C>G c.8305C>G (p.Gln2769Glu) c.8143C>G (p.Gln2715Glu) n.37C>G c.5317C>G (p.Gln1773Glu) n.547C>G c.1419C>G c.5341C>G (p.Gln1781Glu) c.8302C>G (p.Gln2768Glu) c.8194C>G (p.Gln2732Glu) c.8176C>G (p.Gln2726Glu) c.4948C>G (p.Gln1650Glu) c.2878C>G (p.Gln960Glu) c.8251C>G (p.Gln2751Glu) c.8197C>G (p.Gln2733Glu) c.7987C>G (p.Gln2663Glu) c.7633C>G (p.Gln2545Glu) c.5530C>G (p.Gln1844Glu) n.8480C>G c.8116C>G (p.Gln2706Glu) c.7312C>G (p.Gln2438Glu) c.7117C>G (p.Gln2373Glu) n.8474C>G n.8420C>G n.8529C>G | |
| 5 | g.37153808G= | CA1539651042 | CPLANE1 | n.1304C= c.8305C= (p.Gln2769=) c.8143C= (p.Gln2715=) n.37C= c.5317C= (p.Gln1773=) n.547C= c.1419C= c.5341C= (p.Gln1781=) c.8302C= (p.Gln2768=) c.8194C= (p.Gln2732=) c.8176C= (p.Gln2726=) c.4948C= (p.Gln1650=) c.2878C= (p.Gln960=) c.8251C= (p.Gln2751=) c.8197C= (p.Gln2733=) c.7987C= (p.Gln2663=) c.7633C= (p.Gln2545=) c.5530C= (p.Gln1844=) n.8480C= c.8116C= (p.Gln2706=) c.7312C= (p.Gln2438=) c.7117C= (p.Gln2373=) n.8474C= n.8420C= n.8529C= | |
| 5 | g.37153808G>T | CA359473780 | CPLANE1 | n.1304C>A c.8305C>A (p.Gln2769Lys) c.8143C>A (p.Gln2715Lys) n.37C>A c.5317C>A (p.Gln1773Lys) n.547C>A c.1419C>A c.5341C>A (p.Gln1781Lys) c.8302C>A (p.Gln2768Lys) c.8194C>A (p.Gln2732Lys) c.8176C>A (p.Gln2726Lys) c.4948C>A (p.Gln1650Lys) c.2878C>A (p.Gln960Lys) c.8251C>A (p.Gln2751Lys) c.8197C>A (p.Gln2733Lys) c.7987C>A (p.Gln2663Lys) c.7633C>A (p.Gln2545Lys) c.5530C>A (p.Gln1844Lys) n.8480C>A c.8116C>A (p.Gln2706Lys) c.7312C>A (p.Gln2438Lys) c.7117C>A (p.Gln2373Lys) n.8474C>A n.8420C>A n.8529C>A | |
| 5 | g.37153809T>A | CA444096643 | CPLANE1 | n.1303A>T c.8304A>T (p.Ile2768=) c.8142A>T (p.Ile2714=) n.36A>T c.5316A>T (p.Ile1772=) n.546A>T c.1418A>T c.5340A>T (p.Ile1780=) c.8301A>T (p.Ile2767=) c.8193A>T (p.Ile2731=) c.8175A>T (p.Ile2725=) c.4947A>T (p.Ile1649=) c.2877A>T (p.Ile959=) c.8250A>T (p.Ile2750=) c.8196A>T (p.Ile2732=) c.7986A>T (p.Ile2662=) c.7632A>T (p.Ile2544=) c.5529A>T (p.Ile1843=) n.8479A>T c.8115A>T (p.Ile2705=) c.7311A>T (p.Ile2437=) c.7116A>T (p.Ile2372=) n.8473A>T n.8419A>T n.8528A>T | |
| 5 | g.37153809T>C | CA359473783 | CPLANE1 | n.1303A>G c.8304A>G (p.Ile2768Met) c.8142A>G (p.Ile2714Met) n.36A>G c.5316A>G (p.Ile1772Met) n.546A>G c.1418A>G c.5340A>G (p.Ile1780Met) c.8301A>G (p.Ile2767Met) c.8193A>G (p.Ile2731Met) c.8175A>G (p.Ile2725Met) c.4947A>G (p.Ile1649Met) c.2877A>G (p.Ile959Met) c.8250A>G (p.Ile2750Met) c.8196A>G (p.Ile2732Met) c.7986A>G (p.Ile2662Met) c.7632A>G (p.Ile2544Met) c.5529A>G (p.Ile1843Met) n.8479A>G c.8115A>G (p.Ile2705Met) c.7311A>G (p.Ile2437Met) c.7116A>G (p.Ile2372Met) n.8473A>G n.8419A>G n.8528A>G | dbSNP gnomAD v4 |
| 5 | g.37153809T>G | CA444096644 | CPLANE1 | n.1303A>C c.8304A>C (p.Ile2768=) c.8142A>C (p.Ile2714=) n.36A>C c.5316A>C (p.Ile1772=) n.546A>C c.1418A>C c.5340A>C (p.Ile1780=) c.8301A>C (p.Ile2767=) c.8193A>C (p.Ile2731=) c.8175A>C (p.Ile2725=) c.4947A>C (p.Ile1649=) c.2877A>C (p.Ile959=) c.8250A>C (p.Ile2750=) c.8196A>C (p.Ile2732=) c.7986A>C (p.Ile2662=) c.7632A>C (p.Ile2544=) c.5529A>C (p.Ile1843=) n.8479A>C c.8115A>C (p.Ile2705=) c.7311A>C (p.Ile2437=) c.7116A>C (p.Ile2372=) n.8473A>C n.8419A>C n.8528A>C | |
| 5 | g.37153809T= | CA1539651046 | CPLANE1 | n.1303A= c.8304A= (p.Ile2768=) c.8142A= (p.Ile2714=) n.36A= c.5316A= (p.Ile1772=) n.546A= c.1418A= c.5340A= (p.Ile1780=) c.8301A= (p.Ile2767=) c.8193A= (p.Ile2731=) c.8175A= (p.Ile2725=) c.4947A= (p.Ile1649=) c.2877A= (p.Ile959=) c.8250A= (p.Ile2750=) c.8196A= (p.Ile2732=) c.7986A= (p.Ile2662=) c.7632A= (p.Ile2544=) c.5529A= (p.Ile1843=) n.8479A= c.8115A= (p.Ile2705=) c.7311A= (p.Ile2437=) c.7116A= (p.Ile2372=) n.8473A= n.8419A= n.8528A= | |
| 5 | g.37153810_37153812dup | CA1539651045 | CPLANE1 | n.1301_1303dup c.8302_8304dup (p.Ile2768_Gln2769insIle) c.8140_8142dup (p.Ile2714_Gln2715insIle) n.34_36dup c.5314_5316dup (p.Ile1772_Gln1773insIle) n.544_546dup c.1416_1418dup c.5338_5340dup (p.Ile1780_Gln1781insIle) c.8299_8301dup (p.Ile2767_Gln2768insIle) c.8191_8193dup (p.Ile2731_Gln2732insIle) c.8173_8175dup (p.Ile2725_Gln2726insIle) c.4945_4947dup (p.Ile1649_Gln1650insIle) c.2875_2877dup (p.Ile959_Gln960insIle) c.8248_8250dup (p.Ile2750_Gln2751insIle) c.8194_8196dup (p.Ile2732_Gln2733insIle) c.7984_7986dup (p.Ile2662_Gln2663insIle) c.7630_7632dup (p.Ile2544_Gln2545insIle) c.5527_5529dup (p.Ile1843_Gln1844insIle) n.8477_8479dup c.8113_8115dup (p.Ile2705_Gln2706insIle) c.7309_7311dup (p.Ile2437_Gln2438insIle) c.7114_7116dup (p.Ile2372_Gln2373insIle) n.8471_8473dup n.8417_8419dup n.8526_8528dup | dbSNP |
| 5 | g.37153810A= | CA1539651051 | CPLANE1 | n.1302T= c.8303T= (p.Ile2768=) c.8141T= (p.Ile2714=) n.35T= c.5315T= (p.Ile1772=) n.545T= c.1417T= c.5339T= (p.Ile1780=) c.8300T= (p.Ile2767=) c.8192T= (p.Ile2731=) c.8174T= (p.Ile2725=) c.4946T= (p.Ile1649=) c.2876T= (p.Ile959=) c.8249T= (p.Ile2750=) c.8195T= (p.Ile2732=) c.7985T= (p.Ile2662=) c.7631T= (p.Ile2544=) c.5528T= (p.Ile1843=) n.8478T= c.8114T= (p.Ile2705=) c.7310T= (p.Ile2437=) c.7115T= (p.Ile2372=) n.8472T= n.8418T= n.8527T= | |
| 5 | g.37153810A>C | CA359473784 | CPLANE1 | n.1302T>G c.8303T>G (p.Ile2768Arg) c.8141T>G (p.Ile2714Arg) n.35T>G c.5315T>G (p.Ile1772Arg) n.545T>G c.1417T>G c.5339T>G (p.Ile1780Arg) c.8300T>G (p.Ile2767Arg) c.8192T>G (p.Ile2731Arg) c.8174T>G (p.Ile2725Arg) c.4946T>G (p.Ile1649Arg) c.2876T>G (p.Ile959Arg) c.8249T>G (p.Ile2750Arg) c.8195T>G (p.Ile2732Arg) c.7985T>G (p.Ile2662Arg) c.7631T>G (p.Ile2544Arg) c.5528T>G (p.Ile1843Arg) n.8478T>G c.8114T>G (p.Ile2705Arg) c.7310T>G (p.Ile2437Arg) c.7115T>G (p.Ile2372Arg) n.8472T>G n.8418T>G n.8527T>G | |
| 5 | g.37153810A>G | CA359473786 | CPLANE1 | n.1302T>C c.8303T>C (p.Ile2768Thr) c.8141T>C (p.Ile2714Thr) n.35T>C c.5315T>C (p.Ile1772Thr) n.545T>C c.1417T>C c.5339T>C (p.Ile1780Thr) c.8300T>C (p.Ile2767Thr) c.8192T>C (p.Ile2731Thr) c.8174T>C (p.Ile2725Thr) c.4946T>C (p.Ile1649Thr) c.2876T>C (p.Ile959Thr) c.8249T>C (p.Ile2750Thr) c.8195T>C (p.Ile2732Thr) c.7985T>C (p.Ile2662Thr) c.7631T>C (p.Ile2544Thr) c.5528T>C (p.Ile1843Thr) n.8478T>C c.8114T>C (p.Ile2705Thr) c.7310T>C (p.Ile2437Thr) c.7115T>C (p.Ile2372Thr) n.8472T>C n.8418T>C n.8527T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37153810A>T | CA359473787 | CPLANE1 | n.1302T>A c.8303T>A (p.Ile2768Lys) c.8141T>A (p.Ile2714Lys) n.35T>A c.5315T>A (p.Ile1772Lys) n.545T>A c.1417T>A c.5339T>A (p.Ile1780Lys) c.8300T>A (p.Ile2767Lys) c.8192T>A (p.Ile2731Lys) c.8174T>A (p.Ile2725Lys) c.4946T>A (p.Ile1649Lys) c.2876T>A (p.Ile959Lys) c.8249T>A (p.Ile2750Lys) c.8195T>A (p.Ile2732Lys) c.7985T>A (p.Ile2662Lys) c.7631T>A (p.Ile2544Lys) c.5528T>A (p.Ile1843Lys) n.8478T>A c.8114T>A (p.Ile2705Lys) c.7310T>A (p.Ile2437Lys) c.7115T>A (p.Ile2372Lys) n.8472T>A n.8418T>A n.8527T>A | |
| 5 | g.37153811T>A | CA359473789 | CPLANE1 | n.1301A>T c.8302A>T (p.Ile2768Leu) c.8140A>T (p.Ile2714Leu) n.34A>T c.5314A>T (p.Ile1772Leu) n.544A>T c.1416A>T c.5338A>T (p.Ile1780Leu) c.8299A>T (p.Ile2767Leu) c.8191A>T (p.Ile2731Leu) c.8173A>T (p.Ile2725Leu) c.4945A>T (p.Ile1649Leu) c.2875A>T (p.Ile959Leu) c.8248A>T (p.Ile2750Leu) c.8194A>T (p.Ile2732Leu) c.7984A>T (p.Ile2662Leu) c.7630A>T (p.Ile2544Leu) c.5527A>T (p.Ile1843Leu) n.8477A>T c.8113A>T (p.Ile2705Leu) c.7309A>T (p.Ile2437Leu) c.7114A>T (p.Ile2372Leu) n.8471A>T n.8417A>T n.8526A>T | |
| 5 | g.37153811T>C | CA3237828 | CPLANE1 | n.1301A>G c.8302A>G (p.Ile2768Val) c.8140A>G (p.Ile2714Val) n.34A>G c.5314A>G (p.Ile1772Val) n.544A>G c.1416A>G c.5338A>G (p.Ile1780Val) c.8299A>G (p.Ile2767Val) c.8191A>G (p.Ile2731Val) c.8173A>G (p.Ile2725Val) c.4945A>G (p.Ile1649Val) c.2875A>G (p.Ile959Val) c.8248A>G (p.Ile2750Val) c.8194A>G (p.Ile2732Val) c.7984A>G (p.Ile2662Val) c.7630A>G (p.Ile2544Val) c.5527A>G (p.Ile1843Val) n.8477A>G c.8113A>G (p.Ile2705Val) c.7309A>G (p.Ile2437Val) c.7114A>G (p.Ile2372Val) n.8471A>G n.8417A>G n.8526A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37153811T>G | CA359473791 | CPLANE1 | n.1301A>C c.8302A>C (p.Ile2768Leu) c.8140A>C (p.Ile2714Leu) n.34A>C c.5314A>C (p.Ile1772Leu) n.544A>C c.1416A>C c.5338A>C (p.Ile1780Leu) c.8299A>C (p.Ile2767Leu) c.8191A>C (p.Ile2731Leu) c.8173A>C (p.Ile2725Leu) c.4945A>C (p.Ile1649Leu) c.2875A>C (p.Ile959Leu) c.8248A>C (p.Ile2750Leu) c.8194A>C (p.Ile2732Leu) c.7984A>C (p.Ile2662Leu) c.7630A>C (p.Ile2544Leu) c.5527A>C (p.Ile1843Leu) n.8477A>C c.8113A>C (p.Ile2705Leu) c.7309A>C (p.Ile2437Leu) c.7114A>C (p.Ile2372Leu) n.8471A>C n.8417A>C n.8526A>C | |
| 5 | g.37153811T= | CA1539651057 | CPLANE1 | n.1301A= c.8302A= (p.Ile2768=) c.8140A= (p.Ile2714=) n.34A= c.5314A= (p.Ile1772=) n.544A= c.1416A= c.5338A= (p.Ile1780=) c.8299A= (p.Ile2767=) c.8191A= (p.Ile2731=) c.8173A= (p.Ile2725=) c.4945A= (p.Ile1649=) c.2875A= (p.Ile959=) c.8248A= (p.Ile2750=) c.8194A= (p.Ile2732=) c.7984A= (p.Ile2662=) c.7630A= (p.Ile2544=) c.5527A= (p.Ile1843=) n.8477A= c.8113A= (p.Ile2705=) c.7309A= (p.Ile2437=) c.7114A= (p.Ile2372=) n.8471A= n.8417A= n.8526A= | |
| 5 | g.37153812T>A | CA444096647 | CPLANE1 | n.1300A>T c.8301A>T (p.Ala2767=) c.8139A>T (p.Ala2713=) n.33A>T c.5313A>T (p.Ala1771=) n.543A>T c.1415A>T c.5337A>T (p.Ala1779=) c.8298A>T (p.Ala2766=) c.8190A>T (p.Ala2730=) c.8172A>T (p.Ala2724=) c.4944A>T (p.Ala1648=) c.2874A>T (p.Ala958=) c.8247A>T (p.Ala2749=) c.8193A>T (p.Ala2731=) c.7983A>T (p.Ala2661=) c.7629A>T (p.Ala2543=) c.5526A>T (p.Ala1842=) n.8476A>T c.8112A>T (p.Ala2704=) c.7308A>T (p.Ala2436=) c.7113A>T (p.Ala2371=) n.8470A>T n.8416A>T n.8525A>T | |
| 5 | g.37153812T>C | CA444096646 | CPLANE1 | n.1300A>G c.8301A>G (p.Ala2767=) c.8139A>G (p.Ala2713=) n.33A>G c.5313A>G (p.Ala1771=) n.543A>G c.1415A>G c.5337A>G (p.Ala1779=) c.8298A>G (p.Ala2766=) c.8190A>G (p.Ala2730=) c.8172A>G (p.Ala2724=) c.4944A>G (p.Ala1648=) c.2874A>G (p.Ala958=) c.8247A>G (p.Ala2749=) c.8193A>G (p.Ala2731=) c.7983A>G (p.Ala2661=) c.7629A>G (p.Ala2543=) c.5526A>G (p.Ala1842=) n.8476A>G c.8112A>G (p.Ala2704=) c.7308A>G (p.Ala2436=) c.7113A>G (p.Ala2371=) n.8470A>G n.8416A>G n.8525A>G | gnomAD v4 |
| 5 | g.37153812T>G | CA3237829 | CPLANE1 | n.1300A>C c.8301A>C (p.Ala2767=) c.8139A>C (p.Ala2713=) n.33A>C c.5313A>C (p.Ala1771=) n.543A>C c.1415A>C c.5337A>C (p.Ala1779=) c.8298A>C (p.Ala2766=) c.8190A>C (p.Ala2730=) c.8172A>C (p.Ala2724=) c.4944A>C (p.Ala1648=) c.2874A>C (p.Ala958=) c.8247A>C (p.Ala2749=) c.8193A>C (p.Ala2731=) c.7983A>C (p.Ala2661=) c.7629A>C (p.Ala2543=) c.5526A>C (p.Ala1842=) n.8476A>C c.8112A>C (p.Ala2704=) c.7308A>C (p.Ala2436=) c.7113A>C (p.Ala2371=) n.8470A>C n.8416A>C n.8525A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37153812T= | CA1539651065 | CPLANE1 | n.1300A= c.8301A= (p.Ala2767=) c.8139A= (p.Ala2713=) n.33A= c.5313A= (p.Ala1771=) n.543A= c.1415A= c.5337A= (p.Ala1779=) c.8298A= (p.Ala2766=) c.8190A= (p.Ala2730=) c.8172A= (p.Ala2724=) c.4944A= (p.Ala1648=) c.2874A= (p.Ala958=) c.8247A= (p.Ala2749=) c.8193A= (p.Ala2731=) c.7983A= (p.Ala2661=) c.7629A= (p.Ala2543=) c.5526A= (p.Ala1842=) n.8476A= c.8112A= (p.Ala2704=) c.7308A= (p.Ala2436=) c.7113A= (p.Ala2371=) n.8470A= n.8416A= n.8525A= | |
| 5 | g.37153813G>A | CA359473797 | CPLANE1 | n.1299C>T c.8300C>T (p.Ala2767Val) c.8138C>T (p.Ala2713Val) n.32C>T c.5312C>T (p.Ala1771Val) n.542C>T c.1414C>T c.5336C>T (p.Ala1779Val) c.8297C>T (p.Ala2766Val) c.8189C>T (p.Ala2730Val) c.8171C>T (p.Ala2724Val) c.4943C>T (p.Ala1648Val) c.2873C>T (p.Ala958Val) c.8246C>T (p.Ala2749Val) c.8192C>T (p.Ala2731Val) c.7982C>T (p.Ala2661Val) c.7628C>T (p.Ala2543Val) c.5525C>T (p.Ala1842Val) n.8475C>T c.8111C>T (p.Ala2704Val) c.7307C>T (p.Ala2436Val) c.7112C>T (p.Ala2371Val) n.8469C>T n.8415C>T n.8524C>T | |
| 5 | g.37153813G>C | CA359473796 | CPLANE1 | n.1299C>G c.8300C>G (p.Ala2767Gly) c.8138C>G (p.Ala2713Gly) n.32C>G c.5312C>G (p.Ala1771Gly) n.542C>G c.1414C>G c.5336C>G (p.Ala1779Gly) c.8297C>G (p.Ala2766Gly) c.8189C>G (p.Ala2730Gly) c.8171C>G (p.Ala2724Gly) c.4943C>G (p.Ala1648Gly) c.2873C>G (p.Ala958Gly) c.8246C>G (p.Ala2749Gly) c.8192C>G (p.Ala2731Gly) c.7982C>G (p.Ala2661Gly) c.7628C>G (p.Ala2543Gly) c.5525C>G (p.Ala1842Gly) n.8475C>G c.8111C>G (p.Ala2704Gly) c.7307C>G (p.Ala2436Gly) c.7112C>G (p.Ala2371Gly) n.8469C>G n.8415C>G n.8524C>G | |
| 5 | g.37153813G>T | CA359473794 | CPLANE1 | n.1299C>A c.8300C>A (p.Ala2767Glu) c.8138C>A (p.Ala2713Glu) n.32C>A c.5312C>A (p.Ala1771Glu) n.542C>A c.1414C>A c.5336C>A (p.Ala1779Glu) c.8297C>A (p.Ala2766Glu) c.8189C>A (p.Ala2730Glu) c.8171C>A (p.Ala2724Glu) c.4943C>A (p.Ala1648Glu) c.2873C>A (p.Ala958Glu) c.8246C>A (p.Ala2749Glu) c.8192C>A (p.Ala2731Glu) c.7982C>A (p.Ala2661Glu) c.7628C>A (p.Ala2543Glu) c.5525C>A (p.Ala1842Glu) n.8475C>A c.8111C>A (p.Ala2704Glu) c.7307C>A (p.Ala2436Glu) c.7112C>A (p.Ala2371Glu) n.8469C>A n.8415C>A n.8524C>A | |
| 5 | g.37153814C>A | CA359473799 | CPLANE1 | n.1298G>T c.8299G>T (p.Ala2767Ser) c.8137G>T (p.Ala2713Ser) n.31G>T c.5311G>T (p.Ala1771Ser) n.541G>T c.1413G>T c.5335G>T (p.Ala1779Ser) c.8296G>T (p.Ala2766Ser) c.8188G>T (p.Ala2730Ser) c.8170G>T (p.Ala2724Ser) c.4942G>T (p.Ala1648Ser) c.2872G>T (p.Ala958Ser) c.8245G>T (p.Ala2749Ser) c.8191G>T (p.Ala2731Ser) c.7981G>T (p.Ala2661Ser) c.7627G>T (p.Ala2543Ser) c.5524G>T (p.Ala1842Ser) n.8474G>T c.8110G>T (p.Ala2704Ser) c.7306G>T (p.Ala2436Ser) c.7111G>T (p.Ala2371Ser) n.8468G>T n.8414G>T n.8523G>T | |
| 5 | g.37153814C>G | CA359473801 | CPLANE1 | n.1298G>C c.8299G>C (p.Ala2767Pro) c.8137G>C (p.Ala2713Pro) n.31G>C c.5311G>C (p.Ala1771Pro) n.541G>C c.1413G>C c.5335G>C (p.Ala1779Pro) c.8296G>C (p.Ala2766Pro) c.8188G>C (p.Ala2730Pro) c.8170G>C (p.Ala2724Pro) c.4942G>C (p.Ala1648Pro) c.2872G>C (p.Ala958Pro) c.8245G>C (p.Ala2749Pro) c.8191G>C (p.Ala2731Pro) c.7981G>C (p.Ala2661Pro) c.7627G>C (p.Ala2543Pro) c.5524G>C (p.Ala1842Pro) n.8474G>C c.8110G>C (p.Ala2704Pro) c.7306G>C (p.Ala2436Pro) c.7111G>C (p.Ala2371Pro) n.8468G>C n.8414G>C n.8523G>C | |
| 5 | g.37153814C>T | CA359473803 | CPLANE1 | n.1298G>A c.8299G>A (p.Ala2767Thr) c.8137G>A (p.Ala2713Thr) n.31G>A c.5311G>A (p.Ala1771Thr) n.541G>A c.1413G>A c.5335G>A (p.Ala1779Thr) c.8296G>A (p.Ala2766Thr) c.8188G>A (p.Ala2730Thr) c.8170G>A (p.Ala2724Thr) c.4942G>A (p.Ala1648Thr) c.2872G>A (p.Ala958Thr) c.8245G>A (p.Ala2749Thr) c.8191G>A (p.Ala2731Thr) c.7981G>A (p.Ala2661Thr) c.7627G>A (p.Ala2543Thr) c.5524G>A (p.Ala1842Thr) n.8474G>A c.8110G>A (p.Ala2704Thr) c.7306G>A (p.Ala2436Thr) c.7111G>A (p.Ala2371Thr) n.8468G>A n.8414G>A n.8523G>A | |
| 5 | g.37153815T>A | CA444096651 | CPLANE1 | n.1297A>T c.8298A>T (p.Leu2766=) c.8136A>T (p.Leu2712=) n.30A>T c.5310A>T (p.Leu1770=) n.540A>T c.1412A>T c.5334A>T (p.Leu1778=) c.8295A>T (p.Leu2765=) c.8187A>T (p.Leu2729=) c.8169A>T (p.Leu2723=) c.4941A>T (p.Leu1647=) c.2871A>T (p.Leu957=) c.8244A>T (p.Leu2748=) c.8190A>T (p.Leu2730=) c.7980A>T (p.Leu2660=) c.7626A>T (p.Leu2542=) c.5523A>T (p.Leu1841=) n.8473A>T c.8109A>T (p.Leu2703=) c.7305A>T (p.Leu2435=) c.7110A>T (p.Leu2370=) n.8467A>T n.8413A>T n.8522A>T | |
| 5 | g.37153815T>C | CA444096650 | CPLANE1 | n.1297A>G c.8298A>G (p.Leu2766=) c.8136A>G (p.Leu2712=) n.30A>G c.5310A>G (p.Leu1770=) n.540A>G c.1412A>G c.5334A>G (p.Leu1778=) c.8295A>G (p.Leu2765=) c.8187A>G (p.Leu2729=) c.8169A>G (p.Leu2723=) c.4941A>G (p.Leu1647=) c.2871A>G (p.Leu957=) c.8244A>G (p.Leu2748=) c.8190A>G (p.Leu2730=) c.7980A>G (p.Leu2660=) c.7626A>G (p.Leu2542=) c.5523A>G (p.Leu1841=) n.8473A>G c.8109A>G (p.Leu2703=) c.7305A>G (p.Leu2435=) c.7110A>G (p.Leu2370=) n.8467A>G n.8413A>G n.8522A>G | |
| 5 | g.37153815T>G | CA444096649 | CPLANE1 | n.1297A>C c.8298A>C (p.Leu2766=) c.8136A>C (p.Leu2712=) n.30A>C c.5310A>C (p.Leu1770=) n.540A>C c.1412A>C c.5334A>C (p.Leu1778=) c.8295A>C (p.Leu2765=) c.8187A>C (p.Leu2729=) c.8169A>C (p.Leu2723=) c.4941A>C (p.Leu1647=) c.2871A>C (p.Leu957=) c.8244A>C (p.Leu2748=) c.8190A>C (p.Leu2730=) c.7980A>C (p.Leu2660=) c.7626A>C (p.Leu2542=) c.5523A>C (p.Leu1841=) n.8473A>C c.8109A>C (p.Leu2703=) c.7305A>C (p.Leu2435=) c.7110A>C (p.Leu2370=) n.8467A>C n.8413A>C n.8522A>C | |
| 5 | g.37153816A>C | CA359473804 | CPLANE1 | n.1296T>G c.8297T>G (p.Leu2766Arg) c.8135T>G (p.Leu2712Arg) n.29T>G c.5309T>G (p.Leu1770Arg) n.539T>G c.1411T>G c.5333T>G (p.Leu1778Arg) c.8294T>G (p.Leu2765Arg) c.8186T>G (p.Leu2729Arg) c.8168T>G (p.Leu2723Arg) c.4940T>G (p.Leu1647Arg) c.2870T>G (p.Leu957Arg) c.8243T>G (p.Leu2748Arg) c.8189T>G (p.Leu2730Arg) c.7979T>G (p.Leu2660Arg) c.7625T>G (p.Leu2542Arg) c.5522T>G (p.Leu1841Arg) n.8472T>G c.8108T>G (p.Leu2703Arg) c.7304T>G (p.Leu2435Arg) c.7109T>G (p.Leu2370Arg) n.8466T>G n.8412T>G n.8521T>G | |
| 5 | g.37153816A>G | CA359473805 | CPLANE1 | n.1296T>C c.8297T>C (p.Leu2766Pro) c.8135T>C (p.Leu2712Pro) n.29T>C c.5309T>C (p.Leu1770Pro) n.539T>C c.1411T>C c.5333T>C (p.Leu1778Pro) c.8294T>C (p.Leu2765Pro) c.8186T>C (p.Leu2729Pro) c.8168T>C (p.Leu2723Pro) c.4940T>C (p.Leu1647Pro) c.2870T>C (p.Leu957Pro) c.8243T>C (p.Leu2748Pro) c.8189T>C (p.Leu2730Pro) c.7979T>C (p.Leu2660Pro) c.7625T>C (p.Leu2542Pro) c.5522T>C (p.Leu1841Pro) n.8472T>C c.8108T>C (p.Leu2703Pro) c.7304T>C (p.Leu2435Pro) c.7109T>C (p.Leu2370Pro) n.8466T>C n.8412T>C n.8521T>C | gnomAD v4 |
| 5 | g.37153816A>T | CA359473807 | CPLANE1 | n.1296T>A c.8297T>A (p.Leu2766Gln) c.8135T>A (p.Leu2712Gln) n.29T>A c.5309T>A (p.Leu1770Gln) n.539T>A c.1411T>A c.5333T>A (p.Leu1778Gln) c.8294T>A (p.Leu2765Gln) c.8186T>A (p.Leu2729Gln) c.8168T>A (p.Leu2723Gln) c.4940T>A (p.Leu1647Gln) c.2870T>A (p.Leu957Gln) c.8243T>A (p.Leu2748Gln) c.8189T>A (p.Leu2730Gln) c.7979T>A (p.Leu2660Gln) c.7625T>A (p.Leu2542Gln) c.5522T>A (p.Leu1841Gln) n.8472T>A c.8108T>A (p.Leu2703Gln) c.7304T>A (p.Leu2435Gln) c.7109T>A (p.Leu2370Gln) n.8466T>A n.8412T>A n.8521T>A | |
| 5 | g.37153817G>A | CA444096652 | CPLANE1 | n.1295C>T c.8296C>T (p.Leu2766=) c.8134C>T (p.Leu2712=) n.28C>T c.5308C>T (p.Leu1770=) n.538C>T c.1410C>T c.5332C>T (p.Leu1778=) c.8293C>T (p.Leu2765=) c.8185C>T (p.Leu2729=) c.8167C>T (p.Leu2723=) c.4939C>T (p.Leu1647=) c.2869C>T (p.Leu957=) c.8242C>T (p.Leu2748=) c.8188C>T (p.Leu2730=) c.7978C>T (p.Leu2660=) c.7624C>T (p.Leu2542=) c.5521C>T (p.Leu1841=) n.8471C>T c.8107C>T (p.Leu2703=) c.7303C>T (p.Leu2435=) c.7108C>T (p.Leu2370=) n.8465C>T n.8411C>T n.8520C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.37153817G>C | CA359473808 | CPLANE1 | n.1295C>G c.8296C>G (p.Leu2766Val) c.8134C>G (p.Leu2712Val) n.28C>G c.5308C>G (p.Leu1770Val) n.538C>G c.1410C>G c.5332C>G (p.Leu1778Val) c.8293C>G (p.Leu2765Val) c.8185C>G (p.Leu2729Val) c.8167C>G (p.Leu2723Val) c.4939C>G (p.Leu1647Val) c.2869C>G (p.Leu957Val) c.8242C>G (p.Leu2748Val) c.8188C>G (p.Leu2730Val) c.7978C>G (p.Leu2660Val) c.7624C>G (p.Leu2542Val) c.5521C>G (p.Leu1841Val) n.8471C>G c.8107C>G (p.Leu2703Val) c.7303C>G (p.Leu2435Val) c.7108C>G (p.Leu2370Val) n.8465C>G n.8411C>G n.8520C>G | |
| 5 | g.37153817G= | CA1539651069 | CPLANE1 | n.1295C= c.8296C= (p.Leu2766=) c.8134C= (p.Leu2712=) n.28C= c.5308C= (p.Leu1770=) n.538C= c.1410C= c.5332C= (p.Leu1778=) c.8293C= (p.Leu2765=) c.8185C= (p.Leu2729=) c.8167C= (p.Leu2723=) c.4939C= (p.Leu1647=) c.2869C= (p.Leu957=) c.8242C= (p.Leu2748=) c.8188C= (p.Leu2730=) c.7978C= (p.Leu2660=) c.7624C= (p.Leu2542=) c.5521C= (p.Leu1841=) n.8471C= c.8107C= (p.Leu2703=) c.7303C= (p.Leu2435=) c.7108C= (p.Leu2370=) n.8465C= n.8411C= n.8520C= | |
| 5 | g.37153817G>T | CA359473810 | CPLANE1 | n.1295C>A c.8296C>A (p.Leu2766Ile) c.8134C>A (p.Leu2712Ile) n.28C>A c.5308C>A (p.Leu1770Ile) n.538C>A c.1410C>A c.5332C>A (p.Leu1778Ile) c.8293C>A (p.Leu2765Ile) c.8185C>A (p.Leu2729Ile) c.8167C>A (p.Leu2723Ile) c.4939C>A (p.Leu1647Ile) c.2869C>A (p.Leu957Ile) c.8242C>A (p.Leu2748Ile) c.8188C>A (p.Leu2730Ile) c.7978C>A (p.Leu2660Ile) c.7624C>A (p.Leu2542Ile) c.5521C>A (p.Leu1841Ile) n.8471C>A c.8107C>A (p.Leu2703Ile) c.7303C>A (p.Leu2435Ile) c.7108C>A (p.Leu2370Ile) n.8465C>A n.8411C>A n.8520C>A | |
| 5 | g.37153818C>A | CA3237830 | CPLANE1 | n.1294G>T c.8295G>T (p.Leu2765Phe) c.8133G>T (p.Leu2711Phe) n.27G>T c.5307G>T (p.Leu1769Phe) n.537G>T c.1409G>T c.5331G>T (p.Leu1777Phe) c.8292G>T (p.Leu2764Phe) c.8184G>T (p.Leu2728Phe) c.8166G>T (p.Leu2722Phe) c.4938G>T (p.Leu1646Phe) c.2868G>T (p.Leu956Phe) c.8241G>T (p.Leu2747Phe) c.8187G>T (p.Leu2729Phe) c.7977G>T (p.Leu2659Phe) c.7623G>T (p.Leu2541Phe) c.5520G>T (p.Leu1840Phe) n.8470G>T c.8106G>T (p.Leu2702Phe) c.7302G>T (p.Leu2434Phe) c.7107G>T (p.Leu2369Phe) n.8464G>T n.8410G>T n.8519G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37153818C= | CA1539651075 | CPLANE1 | n.1294G= c.8295G= (p.Leu2765=) c.8133G= (p.Leu2711=) n.27G= c.5307G= (p.Leu1769=) n.537G= c.1409G= c.5331G= (p.Leu1777=) c.8292G= (p.Leu2764=) c.8184G= (p.Leu2728=) c.8166G= (p.Leu2722=) c.4938G= (p.Leu1646=) c.2868G= (p.Leu956=) c.8241G= (p.Leu2747=) c.8187G= (p.Leu2729=) c.7977G= (p.Leu2659=) c.7623G= (p.Leu2541=) c.5520G= (p.Leu1840=) n.8470G= c.8106G= (p.Leu2702=) c.7302G= (p.Leu2434=) c.7107G= (p.Leu2369=) n.8464G= n.8410G= n.8519G= | |
| 5 | g.37153818C>G | CA359473812 | CPLANE1 | n.1294G>C c.8295G>C (p.Leu2765Phe) c.8133G>C (p.Leu2711Phe) n.27G>C c.5307G>C (p.Leu1769Phe) n.537G>C c.1409G>C c.5331G>C (p.Leu1777Phe) c.8292G>C (p.Leu2764Phe) c.8184G>C (p.Leu2728Phe) c.8166G>C (p.Leu2722Phe) c.4938G>C (p.Leu1646Phe) c.2868G>C (p.Leu956Phe) c.8241G>C (p.Leu2747Phe) c.8187G>C (p.Leu2729Phe) c.7977G>C (p.Leu2659Phe) c.7623G>C (p.Leu2541Phe) c.5520G>C (p.Leu1840Phe) n.8470G>C c.8106G>C (p.Leu2702Phe) c.7302G>C (p.Leu2434Phe) c.7107G>C (p.Leu2369Phe) n.8464G>C n.8410G>C n.8519G>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37153818C>T | CA444096654 | CPLANE1 | n.1294G>A c.8295G>A (p.Leu2765=) c.8133G>A (p.Leu2711=) n.27G>A c.5307G>A (p.Leu1769=) n.537G>A c.1409G>A c.5331G>A (p.Leu1777=) c.8292G>A (p.Leu2764=) c.8184G>A (p.Leu2728=) c.8166G>A (p.Leu2722=) c.4938G>A (p.Leu1646=) c.2868G>A (p.Leu956=) c.8241G>A (p.Leu2747=) c.8187G>A (p.Leu2729=) c.7977G>A (p.Leu2659=) c.7623G>A (p.Leu2541=) c.5520G>A (p.Leu1840=) n.8470G>A c.8106G>A (p.Leu2702=) c.7302G>A (p.Leu2434=) c.7107G>A (p.Leu2369=) n.8464G>A n.8410G>A n.8519G>A | |
| 5 | g.37153819A>C | CA359473813 | CPLANE1 | n.1293T>G c.8294T>G (p.Leu2765Trp) c.8132T>G (p.Leu2711Trp) n.26T>G c.5306T>G (p.Leu1769Trp) n.536T>G c.1408T>G c.5330T>G (p.Leu1777Trp) c.8291T>G (p.Leu2764Trp) c.8183T>G (p.Leu2728Trp) c.8165T>G (p.Leu2722Trp) c.4937T>G (p.Leu1646Trp) c.2867T>G (p.Leu956Trp) c.8240T>G (p.Leu2747Trp) c.8186T>G (p.Leu2729Trp) c.7976T>G (p.Leu2659Trp) c.7622T>G (p.Leu2541Trp) c.5519T>G (p.Leu1840Trp) n.8469T>G c.8105T>G (p.Leu2702Trp) c.7301T>G (p.Leu2434Trp) c.7106T>G (p.Leu2369Trp) n.8463T>G n.8409T>G n.8518T>G | |
| 5 | g.37153819A>G | CA359473815 | CPLANE1 | n.1293T>C c.8294T>C (p.Leu2765Ser) c.8132T>C (p.Leu2711Ser) n.26T>C c.5306T>C (p.Leu1769Ser) n.536T>C c.1408T>C c.5330T>C (p.Leu1777Ser) c.8291T>C (p.Leu2764Ser) c.8183T>C (p.Leu2728Ser) c.8165T>C (p.Leu2722Ser) c.4937T>C (p.Leu1646Ser) c.2867T>C (p.Leu956Ser) c.8240T>C (p.Leu2747Ser) c.8186T>C (p.Leu2729Ser) c.7976T>C (p.Leu2659Ser) c.7622T>C (p.Leu2541Ser) c.5519T>C (p.Leu1840Ser) n.8469T>C c.8105T>C (p.Leu2702Ser) c.7301T>C (p.Leu2434Ser) c.7106T>C (p.Leu2369Ser) n.8463T>C n.8409T>C n.8518T>C | |
| 5 | g.37153819A>T | CA359473816 | CPLANE1 | n.1293T>A c.8294T>A (p.Leu2765Ter) c.8132T>A (p.Leu2711Ter) n.26T>A c.5306T>A (p.Leu1769Ter) n.536T>A c.1408T>A c.5330T>A (p.Leu1777Ter) c.8291T>A (p.Leu2764Ter) c.8183T>A (p.Leu2728Ter) c.8165T>A (p.Leu2722Ter) c.4937T>A (p.Leu1646Ter) c.2867T>A (p.Leu956Ter) c.8240T>A (p.Leu2747Ter) c.8186T>A (p.Leu2729Ter) c.7976T>A (p.Leu2659Ter) c.7622T>A (p.Leu2541Ter) c.5519T>A (p.Leu1840Ter) n.8469T>A c.8105T>A (p.Leu2702Ter) c.7301T>A (p.Leu2434Ter) c.7106T>A (p.Leu2369Ter) n.8463T>A n.8409T>A n.8518T>A | |
| 5 | g.37153820A>C | CA359473818 | CPLANE1 | n.1292T>G c.8293T>G (p.Leu2765Val) c.8131T>G (p.Leu2711Val) n.25T>G c.5305T>G (p.Leu1769Val) n.535T>G c.1407T>G c.5329T>G (p.Leu1777Val) c.8290T>G (p.Leu2764Val) c.8182T>G (p.Leu2728Val) c.8164T>G (p.Leu2722Val) c.4936T>G (p.Leu1646Val) c.2866T>G (p.Leu956Val) c.8239T>G (p.Leu2747Val) c.8185T>G (p.Leu2729Val) c.7975T>G (p.Leu2659Val) c.7621T>G (p.Leu2541Val) c.5518T>G (p.Leu1840Val) n.8468T>G c.8104T>G (p.Leu2702Val) c.7300T>G (p.Leu2434Val) c.7105T>G (p.Leu2369Val) n.8462T>G n.8408T>G n.8517T>G | |
| 5 | g.37153820A>G | CA444096657 | CPLANE1 | n.1292T>C c.8293T>C (p.Leu2765=) c.8131T>C (p.Leu2711=) n.25T>C c.5305T>C (p.Leu1769=) n.535T>C c.1407T>C c.5329T>C (p.Leu1777=) c.8290T>C (p.Leu2764=) c.8182T>C (p.Leu2728=) c.8164T>C (p.Leu2722=) c.4936T>C (p.Leu1646=) c.2866T>C (p.Leu956=) c.8239T>C (p.Leu2747=) c.8185T>C (p.Leu2729=) c.7975T>C (p.Leu2659=) c.7621T>C (p.Leu2541=) c.5518T>C (p.Leu1840=) n.8468T>C c.8104T>C (p.Leu2702=) c.7300T>C (p.Leu2434=) c.7105T>C (p.Leu2369=) n.8462T>C n.8408T>C n.8517T>C | |
| 5 | g.37153820A>T | CA359473820 | CPLANE1 | n.1292T>A c.8293T>A (p.Leu2765Met) c.8131T>A (p.Leu2711Met) n.25T>A c.5305T>A (p.Leu1769Met) n.535T>A c.1407T>A c.5329T>A (p.Leu1777Met) c.8290T>A (p.Leu2764Met) c.8182T>A (p.Leu2728Met) c.8164T>A (p.Leu2722Met) c.4936T>A (p.Leu1646Met) c.2866T>A (p.Leu956Met) c.8239T>A (p.Leu2747Met) c.8185T>A (p.Leu2729Met) c.7975T>A (p.Leu2659Met) c.7621T>A (p.Leu2541Met) c.5518T>A (p.Leu1840Met) n.8468T>A c.8104T>A (p.Leu2702Met) c.7300T>A (p.Leu2434Met) c.7105T>A (p.Leu2369Met) n.8462T>A n.8408T>A n.8517T>A | |
| 5 | g.37153821C>A | CA359473821 | CPLANE1 | n.1291G>T c.8292G>T (p.Gln2764His) c.8130G>T (p.Gln2710His) n.24G>T c.5304G>T (p.Gln1768His) n.534G>T c.1406G>T c.5328G>T (p.Gln1776His) c.8289G>T (p.Gln2763His) c.8181G>T (p.Gln2727His) c.8163G>T (p.Gln2721His) c.4935G>T (p.Gln1645His) c.2865G>T (p.Gln955His) c.8238G>T (p.Gln2746His) c.8184G>T (p.Gln2728His) c.7974G>T (p.Gln2658His) c.7620G>T (p.Gln2540His) c.5517G>T (p.Gln1839His) n.8467G>T c.8103G>T (p.Gln2701His) c.7299G>T (p.Gln2433His) c.7104G>T (p.Gln2368His) n.8461G>T n.8407G>T n.8516G>T | |
| 5 | g.37153821C= | CA1539651084 | CPLANE1 | n.1291G= c.8292G= (p.Gln2764=) c.8130G= (p.Gln2710=) n.24G= c.5304G= (p.Gln1768=) n.534G= c.1406G= c.5328G= (p.Gln1776=) c.8289G= (p.Gln2763=) c.8181G= (p.Gln2727=) c.8163G= (p.Gln2721=) c.4935G= (p.Gln1645=) c.2865G= (p.Gln955=) c.8238G= (p.Gln2746=) c.8184G= (p.Gln2728=) c.7974G= (p.Gln2658=) c.7620G= (p.Gln2540=) c.5517G= (p.Gln1839=) n.8467G= c.8103G= (p.Gln2701=) c.7299G= (p.Gln2433=) c.7104G= (p.Gln2368=) n.8461G= n.8407G= n.8516G= | |
| 5 | g.37153821C>G | CA359473823 | CPLANE1 | n.1291G>C c.8292G>C (p.Gln2764His) c.8130G>C (p.Gln2710His) n.24G>C c.5304G>C (p.Gln1768His) n.534G>C c.1406G>C c.5328G>C (p.Gln1776His) c.8289G>C (p.Gln2763His) c.8181G>C (p.Gln2727His) c.8163G>C (p.Gln2721His) c.4935G>C (p.Gln1645His) c.2865G>C (p.Gln955His) c.8238G>C (p.Gln2746His) c.8184G>C (p.Gln2728His) c.7974G>C (p.Gln2658His) c.7620G>C (p.Gln2540His) c.5517G>C (p.Gln1839His) n.8467G>C c.8103G>C (p.Gln2701His) c.7299G>C (p.Gln2433His) c.7104G>C (p.Gln2368His) n.8461G>C n.8407G>C n.8516G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37153821C>T | CA3237831 | CPLANE1 | n.1291G>A c.8292G>A (p.Gln2764=) c.8130G>A (p.Gln2710=) n.24G>A c.5304G>A (p.Gln1768=) n.534G>A c.1406G>A c.5328G>A (p.Gln1776=) c.8289G>A (p.Gln2763=) c.8181G>A (p.Gln2727=) c.8163G>A (p.Gln2721=) c.4935G>A (p.Gln1645=) c.2865G>A (p.Gln955=) c.8238G>A (p.Gln2746=) c.8184G>A (p.Gln2728=) c.7974G>A (p.Gln2658=) c.7620G>A (p.Gln2540=) c.5517G>A (p.Gln1839=) n.8467G>A c.8103G>A (p.Gln2701=) c.7299G>A (p.Gln2433=) c.7104G>A (p.Gln2368=) n.8461G>A n.8407G>A n.8516G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37153822T>A | CA359473826 | CPLANE1 | n.1290A>T c.8291A>T (p.Gln2764Leu) c.8129A>T (p.Gln2710Leu) n.23A>T c.5303A>T (p.Gln1768Leu) n.533A>T c.1405A>T c.5327A>T (p.Gln1776Leu) c.8288A>T (p.Gln2763Leu) c.8180A>T (p.Gln2727Leu) c.8162A>T (p.Gln2721Leu) c.4934A>T (p.Gln1645Leu) c.2864A>T (p.Gln955Leu) c.8237A>T (p.Gln2746Leu) c.8183A>T (p.Gln2728Leu) c.7973A>T (p.Gln2658Leu) c.7619A>T (p.Gln2540Leu) c.5516A>T (p.Gln1839Leu) n.8466A>T c.8102A>T (p.Gln2701Leu) c.7298A>T (p.Gln2433Leu) c.7103A>T (p.Gln2368Leu) n.8460A>T n.8406A>T n.8515A>T | |
| 5 | g.37153822T>C | CA117042945 | CPLANE1 | n.1290A>G c.8291A>G (p.Gln2764Arg) c.8129A>G (p.Gln2710Arg) n.23A>G c.5303A>G (p.Gln1768Arg) n.533A>G c.1405A>G c.5327A>G (p.Gln1776Arg) c.8288A>G (p.Gln2763Arg) c.8180A>G (p.Gln2727Arg) c.8162A>G (p.Gln2721Arg) c.4934A>G (p.Gln1645Arg) c.2864A>G (p.Gln955Arg) c.8237A>G (p.Gln2746Arg) c.8183A>G (p.Gln2728Arg) c.7973A>G (p.Gln2658Arg) c.7619A>G (p.Gln2540Arg) c.5516A>G (p.Gln1839Arg) n.8466A>G c.8102A>G (p.Gln2701Arg) c.7298A>G (p.Gln2433Arg) c.7103A>G (p.Gln2368Arg) n.8460A>G n.8406A>G n.8515A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37153822T>G | CA3237832 | CPLANE1 | n.1290A>C c.8291A>C (p.Gln2764Pro) c.8129A>C (p.Gln2710Pro) n.23A>C c.5303A>C (p.Gln1768Pro) n.533A>C c.1405A>C c.5327A>C (p.Gln1776Pro) c.8288A>C (p.Gln2763Pro) c.8180A>C (p.Gln2727Pro) c.8162A>C (p.Gln2721Pro) c.4934A>C (p.Gln1645Pro) c.2864A>C (p.Gln955Pro) c.8237A>C (p.Gln2746Pro) c.8183A>C (p.Gln2728Pro) c.7973A>C (p.Gln2658Pro) c.7619A>C (p.Gln2540Pro) c.5516A>C (p.Gln1839Pro) n.8466A>C c.8102A>C (p.Gln2701Pro) c.7298A>C (p.Gln2433Pro) c.7103A>C (p.Gln2368Pro) n.8460A>C n.8406A>C n.8515A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37153822T= | CA1539651096 | CPLANE1 | n.1290A= c.8291A= (p.Gln2764=) c.8129A= (p.Gln2710=) n.23A= c.5303A= (p.Gln1768=) n.533A= c.1405A= c.5327A= (p.Gln1776=) c.8288A= (p.Gln2763=) c.8180A= (p.Gln2727=) c.8162A= (p.Gln2721=) c.4934A= (p.Gln1645=) c.2864A= (p.Gln955=) c.8237A= (p.Gln2746=) c.8183A= (p.Gln2728=) c.7973A= (p.Gln2658=) c.7619A= (p.Gln2540=) c.5516A= (p.Gln1839=) n.8466A= c.8102A= (p.Gln2701=) c.7298A= (p.Gln2433=) c.7103A= (p.Gln2368=) n.8460A= n.8406A= n.8515A= | |
| 5 | g.37153823G>A | CA359473828 | CPLANE1 | n.1289C>T c.8290C>T (p.Gln2764Ter) c.8128C>T (p.Gln2710Ter) n.22C>T c.5302C>T (p.Gln1768Ter) n.532C>T c.1404C>T c.5326C>T (p.Gln1776Ter) c.8287C>T (p.Gln2763Ter) c.8179C>T (p.Gln2727Ter) c.8161C>T (p.Gln2721Ter) c.4933C>T (p.Gln1645Ter) c.2863C>T (p.Gln955Ter) c.8236C>T (p.Gln2746Ter) c.8182C>T (p.Gln2728Ter) c.7972C>T (p.Gln2658Ter) c.7618C>T (p.Gln2540Ter) c.5515C>T (p.Gln1839Ter) n.8465C>T c.8101C>T (p.Gln2701Ter) c.7297C>T (p.Gln2433Ter) c.7102C>T (p.Gln2368Ter) n.8459C>T n.8405C>T n.8514C>T | |
| 5 | g.37153823G>C | CA359473829 | CPLANE1 | n.1289C>G c.8290C>G (p.Gln2764Glu) c.8128C>G (p.Gln2710Glu) n.22C>G c.5302C>G (p.Gln1768Glu) n.532C>G c.1404C>G c.5326C>G (p.Gln1776Glu) c.8287C>G (p.Gln2763Glu) c.8179C>G (p.Gln2727Glu) c.8161C>G (p.Gln2721Glu) c.4933C>G (p.Gln1645Glu) c.2863C>G (p.Gln955Glu) c.8236C>G (p.Gln2746Glu) c.8182C>G (p.Gln2728Glu) c.7972C>G (p.Gln2658Glu) c.7618C>G (p.Gln2540Glu) c.5515C>G (p.Gln1839Glu) n.8465C>G c.8101C>G (p.Gln2701Glu) c.7297C>G (p.Gln2433Glu) c.7102C>G (p.Gln2368Glu) n.8459C>G n.8405C>G n.8514C>G | |
| 5 | g.37153823G>T | CA359473831 | CPLANE1 | n.1289C>A c.8290C>A (p.Gln2764Lys) c.8128C>A (p.Gln2710Lys) n.22C>A c.5302C>A (p.Gln1768Lys) n.532C>A c.1404C>A c.5326C>A (p.Gln1776Lys) c.8287C>A (p.Gln2763Lys) c.8179C>A (p.Gln2727Lys) c.8161C>A (p.Gln2721Lys) c.4933C>A (p.Gln1645Lys) c.2863C>A (p.Gln955Lys) c.8236C>A (p.Gln2746Lys) c.8182C>A (p.Gln2728Lys) c.7972C>A (p.Gln2658Lys) c.7618C>A (p.Gln2540Lys) c.5515C>A (p.Gln1839Lys) n.8465C>A c.8101C>A (p.Gln2701Lys) c.7297C>A (p.Gln2433Lys) c.7102C>A (p.Gln2368Lys) n.8459C>A n.8405C>A n.8514C>A | |
| 5 | g.37153824C>A | CA359473833 | CPLANE1 | n.1288G>T c.8289G>T (p.Glu2763Asp) c.8127G>T (p.Glu2709Asp) n.21G>T c.5301G>T (p.Glu1767Asp) n.531G>T c.1403G>T c.5325G>T (p.Glu1775Asp) c.8286G>T (p.Glu2762Asp) c.8178G>T (p.Glu2726Asp) c.8160G>T (p.Glu2720Asp) c.4932G>T (p.Glu1644Asp) c.2862G>T (p.Glu954Asp) c.8235G>T (p.Glu2745Asp) c.8181G>T (p.Glu2727Asp) c.7971G>T (p.Glu2657Asp) c.7617G>T (p.Glu2539Asp) c.5514G>T (p.Glu1838Asp) n.8464G>T c.8100G>T (p.Glu2700Asp) c.7296G>T (p.Glu2432Asp) c.7101G>T (p.Glu2367Asp) n.8458G>T n.8404G>T n.8513G>T | |
| 5 | g.37153824C>G | CA359473834 | CPLANE1 | n.1288G>C c.8289G>C (p.Glu2763Asp) c.8127G>C (p.Glu2709Asp) n.21G>C c.5301G>C (p.Glu1767Asp) n.531G>C c.1403G>C c.5325G>C (p.Glu1775Asp) c.8286G>C (p.Glu2762Asp) c.8178G>C (p.Glu2726Asp) c.8160G>C (p.Glu2720Asp) c.4932G>C (p.Glu1644Asp) c.2862G>C (p.Glu954Asp) c.8235G>C (p.Glu2745Asp) c.8181G>C (p.Glu2727Asp) c.7971G>C (p.Glu2657Asp) c.7617G>C (p.Glu2539Asp) c.5514G>C (p.Glu1838Asp) n.8464G>C c.8100G>C (p.Glu2700Asp) c.7296G>C (p.Glu2432Asp) c.7101G>C (p.Glu2367Asp) n.8458G>C n.8404G>C n.8513G>C | |
| 5 | g.37153824C>T | CA444096661 | CPLANE1 | n.1288G>A c.8289G>A (p.Glu2763=) c.8127G>A (p.Glu2709=) n.21G>A c.5301G>A (p.Glu1767=) n.531G>A c.1403G>A c.5325G>A (p.Glu1775=) c.8286G>A (p.Glu2762=) c.8178G>A (p.Glu2726=) c.8160G>A (p.Glu2720=) c.4932G>A (p.Glu1644=) c.2862G>A (p.Glu954=) c.8235G>A (p.Glu2745=) c.8181G>A (p.Glu2727=) c.7971G>A (p.Glu2657=) c.7617G>A (p.Glu2539=) c.5514G>A (p.Glu1838=) n.8464G>A c.8100G>A (p.Glu2700=) c.7296G>A (p.Glu2432=) c.7101G>A (p.Glu2367=) n.8458G>A n.8404G>A n.8513G>A | |
| 5 | g.37153825_37153826dup | CA2673584237 | CPLANE1 | n.1287_1288dup c.8288_8289dup (p.Gln2764SerfsTer4) c.8126_8127dup (p.Gln2710SerfsTer4) n.20_21dup c.5300_5301dup (p.Gln1768SerfsTer4) n.530_531dup c.1402_1403dup c.5324_5325dup (p.Gln1776SerfsTer4) c.8285_8286dup (p.Gln2763SerfsTer4) c.8177_8178dup (p.Gln2727SerfsTer4) c.8159_8160dup (p.Gln2721SerfsTer4) c.4931_4932dup (p.Gln1645SerfsTer4) c.2861_2862dup (p.Gln955SerfsTer4) c.8234_8235dup (p.Gln2746SerfsTer4) c.8180_8181dup (p.Gln2728SerfsTer4) c.7970_7971dup (p.Gln2658SerfsTer4) c.7616_7617dup (p.Gln2540SerfsTer4) c.5513_5514dup (p.Gln1839SerfsTer4) n.8463_8464dup c.8099_8100dup (p.Gln2701SerfsTer4) c.7295_7296dup (p.Gln2433SerfsTer4) c.7100_7101dup (p.Gln2368SerfsTer4) n.8457_8458dup n.8403_8404dup n.8512_8513dup | gnomAD v4 |
| 5 | g.37153825T>A | CA359473836 | CPLANE1 | n.1287A>T c.8288A>T (p.Glu2763Val) c.8126A>T (p.Glu2709Val) n.20A>T c.5300A>T (p.Glu1767Val) n.530A>T c.1402A>T c.5324A>T (p.Glu1775Val) c.8285A>T (p.Glu2762Val) c.8177A>T (p.Glu2726Val) c.8159A>T (p.Glu2720Val) c.4931A>T (p.Glu1644Val) c.2861A>T (p.Glu954Val) c.8234A>T (p.Glu2745Val) c.8180A>T (p.Glu2727Val) c.7970A>T (p.Glu2657Val) c.7616A>T (p.Glu2539Val) c.5513A>T (p.Glu1838Val) n.8463A>T c.8099A>T (p.Glu2700Val) c.7295A>T (p.Glu2432Val) c.7100A>T (p.Glu2367Val) n.8457A>T n.8403A>T n.8512A>T | |
| 5 | g.37153825T>C | CA359473838 | CPLANE1 | n.1287A>G c.8288A>G (p.Glu2763Gly) c.8126A>G (p.Glu2709Gly) n.20A>G c.5300A>G (p.Glu1767Gly) n.530A>G c.1402A>G c.5324A>G (p.Glu1775Gly) c.8285A>G (p.Glu2762Gly) c.8177A>G (p.Glu2726Gly) c.8159A>G (p.Glu2720Gly) c.4931A>G (p.Glu1644Gly) c.2861A>G (p.Glu954Gly) c.8234A>G (p.Glu2745Gly) c.8180A>G (p.Glu2727Gly) c.7970A>G (p.Glu2657Gly) c.7616A>G (p.Glu2539Gly) c.5513A>G (p.Glu1838Gly) n.8463A>G c.8099A>G (p.Glu2700Gly) c.7295A>G (p.Glu2432Gly) c.7100A>G (p.Glu2367Gly) n.8457A>G n.8403A>G n.8512A>G | gnomAD v4 |
| 5 | g.37153825T>G | CA359473840 | CPLANE1 | n.1287A>C c.8288A>C (p.Glu2763Ala) c.8126A>C (p.Glu2709Ala) n.20A>C c.5300A>C (p.Glu1767Ala) n.530A>C c.1402A>C c.5324A>C (p.Glu1775Ala) c.8285A>C (p.Glu2762Ala) c.8177A>C (p.Glu2726Ala) c.8159A>C (p.Glu2720Ala) c.4931A>C (p.Glu1644Ala) c.2861A>C (p.Glu954Ala) c.8234A>C (p.Glu2745Ala) c.8180A>C (p.Glu2727Ala) c.7970A>C (p.Glu2657Ala) c.7616A>C (p.Glu2539Ala) c.5513A>C (p.Glu1838Ala) n.8463A>C c.8099A>C (p.Glu2700Ala) c.7295A>C (p.Glu2432Ala) c.7100A>C (p.Glu2367Ala) n.8457A>C n.8403A>C n.8512A>C | |
| 5 | g.37153826C>A | CA359473841 | CPLANE1 | n.1286G>T c.8287G>T (p.Glu2763Ter) c.8125G>T (p.Glu2709Ter) n.19G>T c.5299G>T (p.Glu1767Ter) n.529G>T c.1401G>T c.5323G>T (p.Glu1775Ter) c.8284G>T (p.Glu2762Ter) c.8176G>T (p.Glu2726Ter) c.8158G>T (p.Glu2720Ter) c.4930G>T (p.Glu1644Ter) c.2860G>T (p.Glu954Ter) c.8233G>T (p.Glu2745Ter) c.8179G>T (p.Glu2727Ter) c.7969G>T (p.Glu2657Ter) c.7615G>T (p.Glu2539Ter) c.5512G>T (p.Glu1838Ter) n.8462G>T c.8098G>T (p.Glu2700Ter) c.7294G>T (p.Glu2432Ter) c.7099G>T (p.Glu2367Ter) n.8456G>T n.8402G>T n.8511G>T | |
| 5 | g.37153826C= | CA1539651103 | CPLANE1 | n.1286G= c.8287G= (p.Glu2763=) c.8125G= (p.Glu2709=) n.19G= c.5299G= (p.Glu1767=) n.529G= c.1401G= c.5323G= (p.Glu1775=) c.8284G= (p.Glu2762=) c.8176G= (p.Glu2726=) c.8158G= (p.Glu2720=) c.4930G= (p.Glu1644=) c.2860G= (p.Glu954=) c.8233G= (p.Glu2745=) c.8179G= (p.Glu2727=) c.7969G= (p.Glu2657=) c.7615G= (p.Glu2539=) c.5512G= (p.Glu1838=) n.8462G= c.8098G= (p.Glu2700=) c.7294G= (p.Glu2432=) c.7099G= (p.Glu2367=) n.8456G= n.8402G= n.8511G= | |
| 5 | g.37153826C>G | CA359473843 | CPLANE1 | n.1286G>C c.8287G>C (p.Glu2763Gln) c.8125G>C (p.Glu2709Gln) n.19G>C c.5299G>C (p.Glu1767Gln) n.529G>C c.1401G>C c.5323G>C (p.Glu1775Gln) c.8284G>C (p.Glu2762Gln) c.8176G>C (p.Glu2726Gln) c.8158G>C (p.Glu2720Gln) c.4930G>C (p.Glu1644Gln) c.2860G>C (p.Glu954Gln) c.8233G>C (p.Glu2745Gln) c.8179G>C (p.Glu2727Gln) c.7969G>C (p.Glu2657Gln) c.7615G>C (p.Glu2539Gln) c.5512G>C (p.Glu1838Gln) n.8462G>C c.8098G>C (p.Glu2700Gln) c.7294G>C (p.Glu2432Gln) c.7099G>C (p.Glu2367Gln) n.8456G>C n.8402G>C n.8511G>C | |
| 5 | g.37153826C>T | CA3237833 | CPLANE1 | n.1286G>A c.8287G>A (p.Glu2763Lys) c.8125G>A (p.Glu2709Lys) n.19G>A c.5299G>A (p.Glu1767Lys) n.529G>A c.1401G>A c.5323G>A (p.Glu1775Lys) c.8284G>A (p.Glu2762Lys) c.8176G>A (p.Glu2726Lys) c.8158G>A (p.Glu2720Lys) c.4930G>A (p.Glu1644Lys) c.2860G>A (p.Glu954Lys) c.8233G>A (p.Glu2745Lys) c.8179G>A (p.Glu2727Lys) c.7969G>A (p.Glu2657Lys) c.7615G>A (p.Glu2539Lys) c.5512G>A (p.Glu1838Lys) n.8462G>A c.8098G>A (p.Glu2700Lys) c.7294G>A (p.Glu2432Lys) c.7099G>A (p.Glu2367Lys) n.8456G>A n.8402G>A n.8511G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.37153827G>A | CA171464 | CPLANE1 | n.1285C>T c.8286C>T (p.Asp2762=) c.8124C>T (p.Asp2708=) n.18C>T c.5298C>T (p.Asp1766=) n.528C>T c.1400C>T c.5322C>T (p.Asp1774=) c.8283C>T (p.Asp2761=) c.8175C>T (p.Asp2725=) c.8157C>T (p.Asp2719=) c.4929C>T (p.Asp1643=) c.2859C>T (p.Asp953=) c.8232C>T (p.Asp2744=) c.8178C>T (p.Asp2726=) c.7968C>T (p.Asp2656=) c.7614C>T (p.Asp2538=) c.5511C>T (p.Asp1837=) n.8461C>T c.8097C>T (p.Asp2699=) c.7293C>T (p.Asp2431=) c.7098C>T (p.Asp2366=) n.8455C>T n.8401C>T n.8510C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37153827G>C | CA359473845 | CPLANE1 | n.1285C>G c.8286C>G (p.Asp2762Glu) c.8124C>G (p.Asp2708Glu) n.18C>G c.5298C>G (p.Asp1766Glu) n.528C>G c.1400C>G c.5322C>G (p.Asp1774Glu) c.8283C>G (p.Asp2761Glu) c.8175C>G (p.Asp2725Glu) c.8157C>G (p.Asp2719Glu) c.4929C>G (p.Asp1643Glu) c.2859C>G (p.Asp953Glu) c.8232C>G (p.Asp2744Glu) c.8178C>G (p.Asp2726Glu) c.7968C>G (p.Asp2656Glu) c.7614C>G (p.Asp2538Glu) c.5511C>G (p.Asp1837Glu) n.8461C>G c.8097C>G (p.Asp2699Glu) c.7293C>G (p.Asp2431Glu) c.7098C>G (p.Asp2366Glu) n.8455C>G n.8401C>G n.8510C>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37153827G= | CA1539651113 | CPLANE1 | n.1285C= c.8286C= (p.Asp2762=) c.8124C= (p.Asp2708=) n.18C= c.5298C= (p.Asp1766=) n.528C= c.1400C= c.5322C= (p.Asp1774=) c.8283C= (p.Asp2761=) c.8175C= (p.Asp2725=) c.8157C= (p.Asp2719=) c.4929C= (p.Asp1643=) c.2859C= (p.Asp953=) c.8232C= (p.Asp2744=) c.8178C= (p.Asp2726=) c.7968C= (p.Asp2656=) c.7614C= (p.Asp2538=) c.5511C= (p.Asp1837=) n.8461C= c.8097C= (p.Asp2699=) c.7293C= (p.Asp2431=) c.7098C= (p.Asp2366=) n.8455C= n.8401C= n.8510C= | |
| 5 | g.37153827G>T | CA359473847 | CPLANE1 | n.1285C>A c.8286C>A (p.Asp2762Glu) c.8124C>A (p.Asp2708Glu) n.18C>A c.5298C>A (p.Asp1766Glu) n.528C>A c.1400C>A c.5322C>A (p.Asp1774Glu) c.8283C>A (p.Asp2761Glu) c.8175C>A (p.Asp2725Glu) c.8157C>A (p.Asp2719Glu) c.4929C>A (p.Asp1643Glu) c.2859C>A (p.Asp953Glu) c.8232C>A (p.Asp2744Glu) c.8178C>A (p.Asp2726Glu) c.7968C>A (p.Asp2656Glu) c.7614C>A (p.Asp2538Glu) c.5511C>A (p.Asp1837Glu) n.8461C>A c.8097C>A (p.Asp2699Glu) c.7293C>A (p.Asp2431Glu) c.7098C>A (p.Asp2366Glu) n.8455C>A n.8401C>A n.8510C>A |