Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.37125235C>A | CA3237622 | CPLANE1 | n.1966G>T c.8958+9G>T (n.8958+9G>T) n.819+9G>T c.8796+9G>T (n.8796+9G>T) c.5970+9G>T (n.5970+9G>T) n.4139+9G>T n.342-3451G>T c.5994+9G>T (n.5994+9G>T) c.8955+9G>T (n.8955+9G>T) c.8847+9G>T (n.8847+9G>T) c.8829+9G>T (n.8829+9G>T) c.5601+9G>T (n.5601+9G>T) c.3531+9G>T (n.3531+9G>T) c.8904+9G>T (n.8904+9G>T) c.8850+9G>T (n.8850+9G>T) c.8640+9G>T (n.8640+9G>T) c.8286+9G>T (n.8286+9G>T) c.6183+9G>T (n.6183+9G>T) n.9133+9G>T c.8769+9G>T (n.8769+9G>T) c.7965+9G>T (n.7965+9G>T) c.7770+9G>T (n.7770+9G>T) n.9182+9G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37125235C= | CA1539667563 | CPLANE1 | n.1966G= c.8958+9G= (n.8958+9G=) n.819+9G= c.8796+9G= (n.8796+9G=) c.5970+9G= (n.5970+9G=) n.4139+9G= n.342-3451G= c.5994+9G= (n.5994+9G=) c.8955+9G= (n.8955+9G=) c.8847+9G= (n.8847+9G=) c.8829+9G= (n.8829+9G=) c.5601+9G= (n.5601+9G=) c.3531+9G= (n.3531+9G=) c.8904+9G= (n.8904+9G=) c.8850+9G= (n.8850+9G=) c.8640+9G= (n.8640+9G=) c.8286+9G= (n.8286+9G=) c.6183+9G= (n.6183+9G=) n.9133+9G= c.8769+9G= (n.8769+9G=) c.7965+9G= (n.7965+9G=) c.7770+9G= (n.7770+9G=) n.9182+9G= | |
5 | g.37125237G>C | CA2673580095 | CPLANE1 | n.1964C>G c.8958+7C>G (n.8958+7C>G) n.819+7C>G c.8796+7C>G (n.8796+7C>G) c.5970+7C>G (n.5970+7C>G) n.4139+7C>G n.342-3453C>G c.5994+7C>G (n.5994+7C>G) c.8955+7C>G (n.8955+7C>G) c.8847+7C>G (n.8847+7C>G) c.8829+7C>G (n.8829+7C>G) c.5601+7C>G (n.5601+7C>G) c.3531+7C>G (n.3531+7C>G) c.8904+7C>G (n.8904+7C>G) c.8850+7C>G (n.8850+7C>G) c.8640+7C>G (n.8640+7C>G) c.8286+7C>G (n.8286+7C>G) c.6183+7C>G (n.6183+7C>G) n.9133+7C>G c.8769+7C>G (n.8769+7C>G) c.7965+7C>G (n.7965+7C>G) c.7770+7C>G (n.7770+7C>G) n.9182+7C>G | gnomAD v4 |
5 | g.37125238A>G | CA2708563489 | CPLANE1 | n.1963T>C c.8958+6T>C (n.8958+6T>C) n.819+6T>C c.8796+6T>C (n.8796+6T>C) c.5970+6T>C (n.5970+6T>C) n.4139+6T>C n.342-3454T>C c.5994+6T>C (n.5994+6T>C) c.8955+6T>C (n.8955+6T>C) c.8847+6T>C (n.8847+6T>C) c.8829+6T>C (n.8829+6T>C) c.5601+6T>C (n.5601+6T>C) c.3531+6T>C (n.3531+6T>C) c.8904+6T>C (n.8904+6T>C) c.8850+6T>C (n.8850+6T>C) c.8640+6T>C (n.8640+6T>C) c.8286+6T>C (n.8286+6T>C) c.6183+6T>C (n.6183+6T>C) n.9133+6T>C c.8769+6T>C (n.8769+6T>C) c.7965+6T>C (n.7965+6T>C) c.7770+6T>C (n.7770+6T>C) n.9182+6T>C | dbSNP |
5 | g.37125240T>C | CA2578290371 | CPLANE1 | n.1961A>G c.8958+4A>G (n.8958+4A>G) n.819+4A>G c.8796+4A>G (n.8796+4A>G) c.5970+4A>G (n.5970+4A>G) n.4139+4A>G n.342-3456A>G c.5994+4A>G (n.5994+4A>G) c.8955+4A>G (n.8955+4A>G) c.8847+4A>G (n.8847+4A>G) c.8829+4A>G (n.8829+4A>G) c.5601+4A>G (n.5601+4A>G) c.3531+4A>G (n.3531+4A>G) c.8904+4A>G (n.8904+4A>G) c.8850+4A>G (n.8850+4A>G) c.8640+4A>G (n.8640+4A>G) c.8286+4A>G (n.8286+4A>G) c.6183+4A>G (n.6183+4A>G) n.9133+4A>G c.8769+4A>G (n.8769+4A>G) c.7965+4A>G (n.7965+4A>G) c.7770+4A>G (n.7770+4A>G) n.9182+4A>G | ClinVar gnomAD v4 |
5 | g.37125240T>G | CA245783 | CPLANE1 | n.1961A>C c.8958+4A>C (n.8958+4A>C) n.819+4A>C c.8796+4A>C (n.8796+4A>C) c.5970+4A>C (n.5970+4A>C) n.4139+4A>C n.342-3456A>C c.5994+4A>C (n.5994+4A>C) c.8955+4A>C (n.8955+4A>C) c.8847+4A>C (n.8847+4A>C) c.8829+4A>C (n.8829+4A>C) c.5601+4A>C (n.5601+4A>C) c.3531+4A>C (n.3531+4A>C) c.8904+4A>C (n.8904+4A>C) c.8850+4A>C (n.8850+4A>C) c.8640+4A>C (n.8640+4A>C) c.8286+4A>C (n.8286+4A>C) c.6183+4A>C (n.6183+4A>C) n.9133+4A>C c.8769+4A>C (n.8769+4A>C) c.7965+4A>C (n.7965+4A>C) c.7770+4A>C (n.7770+4A>C) n.9182+4A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37125240T= | CA1539667567 | CPLANE1 | n.1961A= c.8958+4A= (n.8958+4A=) n.819+4A= c.8796+4A= (n.8796+4A=) c.5970+4A= (n.5970+4A=) n.4139+4A= n.342-3456A= c.5994+4A= (n.5994+4A=) c.8955+4A= (n.8955+4A=) c.8847+4A= (n.8847+4A=) c.8829+4A= (n.8829+4A=) c.5601+4A= (n.5601+4A=) c.3531+4A= (n.3531+4A=) c.8904+4A= (n.8904+4A=) c.8850+4A= (n.8850+4A=) c.8640+4A= (n.8640+4A=) c.8286+4A= (n.8286+4A=) c.6183+4A= (n.6183+4A=) n.9133+4A= c.8769+4A= (n.8769+4A=) c.7965+4A= (n.7965+4A=) c.7770+4A= (n.7770+4A=) n.9182+4A= | |
5 | g.37125241T>G | CA3237623 | CPLANE1 | n.1960A>C c.8958+3A>C (n.8958+3A>C) n.819+3A>C c.8796+3A>C (n.8796+3A>C) c.5970+3A>C (n.5970+3A>C) n.4139+3A>C n.342-3457A>C c.5994+3A>C (n.5994+3A>C) c.8955+3A>C (n.8955+3A>C) c.8847+3A>C (n.8847+3A>C) c.8829+3A>C (n.8829+3A>C) c.5601+3A>C (n.5601+3A>C) c.3531+3A>C (n.3531+3A>C) c.8904+3A>C (n.8904+3A>C) c.8850+3A>C (n.8850+3A>C) c.8640+3A>C (n.8640+3A>C) c.8286+3A>C (n.8286+3A>C) c.6183+3A>C (n.6183+3A>C) n.9133+3A>C c.8769+3A>C (n.8769+3A>C) c.7965+3A>C (n.7965+3A>C) c.7770+3A>C (n.7770+3A>C) n.9182+3A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37125241T= | CA1539667568 | CPLANE1 | n.1960A= c.8958+3A= (n.8958+3A=) n.819+3A= c.8796+3A= (n.8796+3A=) c.5970+3A= (n.5970+3A=) n.4139+3A= n.342-3457A= c.5994+3A= (n.5994+3A=) c.8955+3A= (n.8955+3A=) c.8847+3A= (n.8847+3A=) c.8829+3A= (n.8829+3A=) c.5601+3A= (n.5601+3A=) c.3531+3A= (n.3531+3A=) c.8904+3A= (n.8904+3A=) c.8850+3A= (n.8850+3A=) c.8640+3A= (n.8640+3A=) c.8286+3A= (n.8286+3A=) c.6183+3A= (n.6183+3A=) n.9133+3A= c.8769+3A= (n.8769+3A=) c.7965+3A= (n.7965+3A=) c.7770+3A= (n.7770+3A=) n.9182+3A= | |
5 | g.37125242A>C | CA359498254 | CPLANE1 | n.1959T>G c.8958+2T>G (n.8958+2T>G) n.819+2T>G c.8796+2T>G (n.8796+2T>G) c.5970+2T>G (n.5970+2T>G) n.4139+2T>G n.342-3458T>G c.5994+2T>G (n.5994+2T>G) c.8955+2T>G (n.8955+2T>G) c.8847+2T>G (n.8847+2T>G) c.8829+2T>G (n.8829+2T>G) c.5601+2T>G (n.5601+2T>G) c.3531+2T>G (n.3531+2T>G) c.8904+2T>G (n.8904+2T>G) c.8850+2T>G (n.8850+2T>G) c.8640+2T>G (n.8640+2T>G) c.8286+2T>G (n.8286+2T>G) c.6183+2T>G (n.6183+2T>G) n.9133+2T>G c.8769+2T>G (n.8769+2T>G) c.7965+2T>G (n.7965+2T>G) c.7770+2T>G (n.7770+2T>G) n.9182+2T>G | |
5 | g.37125242A>G | CA359498259 | CPLANE1 | n.1959T>C c.8958+2T>C (n.8958+2T>C) n.819+2T>C c.8796+2T>C (n.8796+2T>C) c.5970+2T>C (n.5970+2T>C) n.4139+2T>C n.342-3458T>C c.5994+2T>C (n.5994+2T>C) c.8955+2T>C (n.8955+2T>C) c.8847+2T>C (n.8847+2T>C) c.8829+2T>C (n.8829+2T>C) c.5601+2T>C (n.5601+2T>C) c.3531+2T>C (n.3531+2T>C) c.8904+2T>C (n.8904+2T>C) c.8850+2T>C (n.8850+2T>C) c.8640+2T>C (n.8640+2T>C) c.8286+2T>C (n.8286+2T>C) c.6183+2T>C (n.6183+2T>C) n.9133+2T>C c.8769+2T>C (n.8769+2T>C) c.7965+2T>C (n.7965+2T>C) c.7770+2T>C (n.7770+2T>C) n.9182+2T>C | |
5 | g.37125242A>T | CA359498263 | CPLANE1 | n.1959T>A c.8958+2T>A (n.8958+2T>A) n.819+2T>A c.8796+2T>A (n.8796+2T>A) c.5970+2T>A (n.5970+2T>A) n.4139+2T>A n.342-3458T>A c.5994+2T>A (n.5994+2T>A) c.8955+2T>A (n.8955+2T>A) c.8847+2T>A (n.8847+2T>A) c.8829+2T>A (n.8829+2T>A) c.5601+2T>A (n.5601+2T>A) c.3531+2T>A (n.3531+2T>A) c.8904+2T>A (n.8904+2T>A) c.8850+2T>A (n.8850+2T>A) c.8640+2T>A (n.8640+2T>A) c.8286+2T>A (n.8286+2T>A) c.6183+2T>A (n.6183+2T>A) n.9133+2T>A c.8769+2T>A (n.8769+2T>A) c.7965+2T>A (n.7965+2T>A) c.7770+2T>A (n.7770+2T>A) n.9182+2T>A | |
5 | g.37125242dup | CA2673580096 | CPLANE1 | n.1959dup c.8958+2dup (n.8958+2dup) n.819+2dup c.8796+2dup (n.8796+2dup) c.5970+2dup (n.5970+2dup) n.4139+2dup n.342-3458dup c.5994+2dup (n.5994+2dup) c.8955+2dup (n.8955+2dup) c.8847+2dup (n.8847+2dup) c.8829+2dup (n.8829+2dup) c.5601+2dup (n.5601+2dup) c.3531+2dup (n.3531+2dup) c.8904+2dup (n.8904+2dup) c.8850+2dup (n.8850+2dup) c.8640+2dup (n.8640+2dup) c.8286+2dup (n.8286+2dup) c.6183+2dup (n.6183+2dup) n.9133+2dup c.8769+2dup (n.8769+2dup) c.7965+2dup (n.7965+2dup) c.7770+2dup (n.7770+2dup) n.9182+2dup | gnomAD v4 |
5 | g.37125243C>A | CA359498271 | CPLANE1 | n.1958G>T c.8958+1G>T (n.8958+1G>T) n.819+1G>T c.8796+1G>T (n.8796+1G>T) c.5970+1G>T (n.5970+1G>T) n.4139+1G>T n.342-3459G>T c.5994+1G>T (n.5994+1G>T) c.8955+1G>T (n.8955+1G>T) c.8847+1G>T (n.8847+1G>T) c.8829+1G>T (n.8829+1G>T) c.5601+1G>T (n.5601+1G>T) c.3531+1G>T (n.3531+1G>T) c.8904+1G>T (n.8904+1G>T) c.8850+1G>T (n.8850+1G>T) c.8640+1G>T (n.8640+1G>T) c.8286+1G>T (n.8286+1G>T) c.6183+1G>T (n.6183+1G>T) n.9133+1G>T c.8769+1G>T (n.8769+1G>T) c.7965+1G>T (n.7965+1G>T) c.7770+1G>T (n.7770+1G>T) n.9182+1G>T | |
5 | g.37125243C>G | CA359498273 | CPLANE1 | n.1958G>C c.8958+1G>C (n.8958+1G>C) n.819+1G>C c.8796+1G>C (n.8796+1G>C) c.5970+1G>C (n.5970+1G>C) n.4139+1G>C n.342-3459G>C c.5994+1G>C (n.5994+1G>C) c.8955+1G>C (n.8955+1G>C) c.8847+1G>C (n.8847+1G>C) c.8829+1G>C (n.8829+1G>C) c.5601+1G>C (n.5601+1G>C) c.3531+1G>C (n.3531+1G>C) c.8904+1G>C (n.8904+1G>C) c.8850+1G>C (n.8850+1G>C) c.8640+1G>C (n.8640+1G>C) c.8286+1G>C (n.8286+1G>C) c.6183+1G>C (n.6183+1G>C) n.9133+1G>C c.8769+1G>C (n.8769+1G>C) c.7965+1G>C (n.7965+1G>C) c.7770+1G>C (n.7770+1G>C) n.9182+1G>C | |
5 | g.37125243C>T | CA359498279 | CPLANE1 | n.1958G>A c.8958+1G>A (n.8958+1G>A) n.819+1G>A c.8796+1G>A (n.8796+1G>A) c.5970+1G>A (n.5970+1G>A) n.4139+1G>A n.342-3459G>A c.5994+1G>A (n.5994+1G>A) c.8955+1G>A (n.8955+1G>A) c.8847+1G>A (n.8847+1G>A) c.8829+1G>A (n.8829+1G>A) c.5601+1G>A (n.5601+1G>A) c.3531+1G>A (n.3531+1G>A) c.8904+1G>A (n.8904+1G>A) c.8850+1G>A (n.8850+1G>A) c.8640+1G>A (n.8640+1G>A) c.8286+1G>A (n.8286+1G>A) c.6183+1G>A (n.6183+1G>A) n.9133+1G>A c.8769+1G>A (n.8769+1G>A) c.7965+1G>A (n.7965+1G>A) c.7770+1G>A (n.7770+1G>A) n.9182+1G>A | |
5 | g.37125244T>A | CA443921975 | CPLANE1 | n.1957A>T c.8958A>T (p.Pro2986=) n.819A>T c.8796A>T (p.Pro2932=) c.5970A>T (n.5970A>T) n.4139A>T n.342-3460A>T c.5994A>T (p.Pro1998=) c.8955A>T (p.Pro2985=) c.8847A>T (p.Pro2949=) c.8829A>T (p.Pro2943=) c.5601A>T (p.Pro1867=) c.3531A>T (p.Pro1177=) c.8904A>T (p.Pro2968=) c.8850A>T (p.Pro2950=) c.8640A>T (p.Pro2880=) c.8286A>T (p.Pro2762=) c.6183A>T (p.Pro2061=) n.9133A>T c.8769A>T (p.Pro2923=) c.7965A>T (p.Pro2655=) c.7770A>T (p.Pro2590=) n.9182A>T | |
5 | g.37125244T>C | CA3237624 | CPLANE1 | n.1957A>G c.8958A>G (p.Pro2986=) n.819A>G c.8796A>G (p.Pro2932=) c.5970A>G (n.5970A>G) n.4139A>G n.342-3460A>G c.5994A>G (p.Pro1998=) c.8955A>G (p.Pro2985=) c.8847A>G (p.Pro2949=) c.8829A>G (p.Pro2943=) c.5601A>G (p.Pro1867=) c.3531A>G (p.Pro1177=) c.8904A>G (p.Pro2968=) c.8850A>G (p.Pro2950=) c.8640A>G (p.Pro2880=) c.8286A>G (p.Pro2762=) c.6183A>G (p.Pro2061=) n.9133A>G c.8769A>G (p.Pro2923=) c.7965A>G (p.Pro2655=) c.7770A>G (p.Pro2590=) n.9182A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37125244T>G | CA443921976 | CPLANE1 | n.1957A>C c.8958A>C (p.Pro2986=) n.819A>C c.8796A>C (p.Pro2932=) c.5970A>C (n.5970A>C) n.4139A>C n.342-3460A>C c.5994A>C (p.Pro1998=) c.8955A>C (p.Pro2985=) c.8847A>C (p.Pro2949=) c.8829A>C (p.Pro2943=) c.5601A>C (p.Pro1867=) c.3531A>C (p.Pro1177=) c.8904A>C (p.Pro2968=) c.8850A>C (p.Pro2950=) c.8640A>C (p.Pro2880=) c.8286A>C (p.Pro2762=) c.6183A>C (p.Pro2061=) n.9133A>C c.8769A>C (p.Pro2923=) c.7965A>C (p.Pro2655=) c.7770A>C (p.Pro2590=) n.9182A>C | |
5 | g.37125244T= | CA1539667570 | CPLANE1 | n.1957A= c.8958A= (p.Pro2986=) n.819A= c.8796A= (p.Pro2932=) c.5970A= (n.5970A=) n.4139A= n.342-3460A= c.5994A= (p.Pro1998=) c.8955A= (p.Pro2985=) c.8847A= (p.Pro2949=) c.8829A= (p.Pro2943=) c.5601A= (p.Pro1867=) c.3531A= (p.Pro1177=) c.8904A= (p.Pro2968=) c.8850A= (p.Pro2950=) c.8640A= (p.Pro2880=) c.8286A= (p.Pro2762=) c.6183A= (p.Pro2061=) n.9133A= c.8769A= (p.Pro2923=) c.7965A= (p.Pro2655=) c.7770A= (p.Pro2590=) n.9182A= | |
5 | g.37125245G>A | CA3237625 | CPLANE1 | n.1956C>T c.8957C>T (p.Pro2986Leu) n.818C>T c.8795C>T (p.Pro2932Leu) c.5969C>T (n.5969C>T) n.4138C>T n.342-3461C>T c.5993C>T (p.Pro1998Leu) c.8954C>T (p.Pro2985Leu) c.8846C>T (p.Pro2949Leu) c.8828C>T (p.Pro2943Leu) c.5600C>T (p.Pro1867Leu) c.3530C>T (p.Pro1177Leu) c.8903C>T (p.Pro2968Leu) c.8849C>T (p.Pro2950Leu) c.8639C>T (p.Pro2880Leu) c.8285C>T (p.Pro2762Leu) c.6182C>T (p.Pro2061Leu) n.9132C>T c.8768C>T (p.Pro2923Leu) c.7964C>T (p.Pro2655Leu) c.7769C>T (p.Pro2590Leu) n.9181C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37125245G>C | CA359498289 | CPLANE1 | n.1956C>G c.8957C>G (p.Pro2986Arg) n.818C>G c.8795C>G (p.Pro2932Arg) c.5969C>G (n.5969C>G) n.4138C>G n.342-3461C>G c.5993C>G (p.Pro1998Arg) c.8954C>G (p.Pro2985Arg) c.8846C>G (p.Pro2949Arg) c.8828C>G (p.Pro2943Arg) c.5600C>G (p.Pro1867Arg) c.3530C>G (p.Pro1177Arg) c.8903C>G (p.Pro2968Arg) c.8849C>G (p.Pro2950Arg) c.8639C>G (p.Pro2880Arg) c.8285C>G (p.Pro2762Arg) c.6182C>G (p.Pro2061Arg) n.9132C>G c.8768C>G (p.Pro2923Arg) c.7964C>G (p.Pro2655Arg) c.7769C>G (p.Pro2590Arg) n.9181C>G | |
5 | g.37125245G= | CA1539667572 | CPLANE1 | n.1956C= c.8957C= (p.Pro2986=) n.818C= c.8795C= (p.Pro2932=) c.5969C= (n.5969C=) n.4138C= n.342-3461C= c.5993C= (p.Pro1998=) c.8954C= (p.Pro2985=) c.8846C= (p.Pro2949=) c.8828C= (p.Pro2943=) c.5600C= (p.Pro1867=) c.3530C= (p.Pro1177=) c.8903C= (p.Pro2968=) c.8849C= (p.Pro2950=) c.8639C= (p.Pro2880=) c.8285C= (p.Pro2762=) c.6182C= (p.Pro2061=) n.9132C= c.8768C= (p.Pro2923=) c.7964C= (p.Pro2655=) c.7769C= (p.Pro2590=) n.9181C= | |
5 | g.37125245G>T | CA359498293 | CPLANE1 | n.1956C>A c.8957C>A (p.Pro2986Gln) n.818C>A c.8795C>A (p.Pro2932Gln) c.5969C>A (n.5969C>A) n.4138C>A n.342-3461C>A c.5993C>A (p.Pro1998Gln) c.8954C>A (p.Pro2985Gln) c.8846C>A (p.Pro2949Gln) c.8828C>A (p.Pro2943Gln) c.5600C>A (p.Pro1867Gln) c.3530C>A (p.Pro1177Gln) c.8903C>A (p.Pro2968Gln) c.8849C>A (p.Pro2950Gln) c.8639C>A (p.Pro2880Gln) c.8285C>A (p.Pro2762Gln) c.6182C>A (p.Pro2061Gln) n.9132C>A c.8768C>A (p.Pro2923Gln) c.7964C>A (p.Pro2655Gln) c.7769C>A (p.Pro2590Gln) n.9181C>A | |
5 | g.37125246G>A | CA359498302 | CPLANE1 | n.1955C>T c.8956C>T (p.Pro2986Ser) n.817C>T c.8794C>T (p.Pro2932Ser) c.5968C>T (n.5968C>T) n.4137C>T n.342-3462C>T c.5992C>T (p.Pro1998Ser) c.8953C>T (p.Pro2985Ser) c.8845C>T (p.Pro2949Ser) c.8827C>T (p.Pro2943Ser) c.5599C>T (p.Pro1867Ser) c.3529C>T (p.Pro1177Ser) c.8902C>T (p.Pro2968Ser) c.8848C>T (p.Pro2950Ser) c.8638C>T (p.Pro2880Ser) c.8284C>T (p.Pro2762Ser) c.6181C>T (p.Pro2061Ser) n.9131C>T c.8767C>T (p.Pro2923Ser) c.7963C>T (p.Pro2655Ser) c.7768C>T (p.Pro2590Ser) n.9180C>T | |
5 | g.37125246G>C | CA359498299 | CPLANE1 | n.1955C>G c.8956C>G (p.Pro2986Ala) n.817C>G c.8794C>G (p.Pro2932Ala) c.5968C>G (n.5968C>G) n.4137C>G n.342-3462C>G c.5992C>G (p.Pro1998Ala) c.8953C>G (p.Pro2985Ala) c.8845C>G (p.Pro2949Ala) c.8827C>G (p.Pro2943Ala) c.5599C>G (p.Pro1867Ala) c.3529C>G (p.Pro1177Ala) c.8902C>G (p.Pro2968Ala) c.8848C>G (p.Pro2950Ala) c.8638C>G (p.Pro2880Ala) c.8284C>G (p.Pro2762Ala) c.6181C>G (p.Pro2061Ala) n.9131C>G c.8767C>G (p.Pro2923Ala) c.7963C>G (p.Pro2655Ala) c.7768C>G (p.Pro2590Ala) n.9180C>G | |
5 | g.37125246G>T | CA359498295 | CPLANE1 | n.1955C>A c.8956C>A (p.Pro2986Thr) n.817C>A c.8794C>A (p.Pro2932Thr) c.5968C>A (n.5968C>A) n.4137C>A n.342-3462C>A c.5992C>A (p.Pro1998Thr) c.8953C>A (p.Pro2985Thr) c.8845C>A (p.Pro2949Thr) c.8827C>A (p.Pro2943Thr) c.5599C>A (p.Pro1867Thr) c.3529C>A (p.Pro1177Thr) c.8902C>A (p.Pro2968Thr) c.8848C>A (p.Pro2950Thr) c.8638C>A (p.Pro2880Thr) c.8284C>A (p.Pro2762Thr) c.6181C>A (p.Pro2061Thr) n.9131C>A c.8767C>A (p.Pro2923Thr) c.7963C>A (p.Pro2655Thr) c.7768C>A (p.Pro2590Thr) n.9180C>A | |
5 | g.37125247A>C | CA359498309 | CPLANE1 | n.1954T>G c.8955T>G (p.Asn2985Lys) n.816T>G c.8793T>G (p.Asn2931Lys) c.5967T>G (n.5967T>G) n.4136T>G n.342-3463T>G c.5991T>G (p.Asn1997Lys) c.8952T>G (p.Asn2984Lys) c.8844T>G (p.Asn2948Lys) c.8826T>G (p.Asn2942Lys) c.5598T>G (p.Asn1866Lys) c.3528T>G (p.Asn1176Lys) c.8901T>G (p.Asn2967Lys) c.8847T>G (p.Asn2949Lys) c.8637T>G (p.Asn2879Lys) c.8283T>G (p.Asn2761Lys) c.6180T>G (p.Asn2060Lys) n.9130T>G c.8766T>G (p.Asn2922Lys) c.7962T>G (p.Asn2654Lys) c.7767T>G (p.Asn2589Lys) n.9179T>G | |
5 | g.37125247A>G | CA443921977 | CPLANE1 | n.1954T>C c.8955T>C (p.Asn2985=) n.816T>C c.8793T>C (p.Asn2931=) c.5967T>C (n.5967T>C) n.4136T>C n.342-3463T>C c.5991T>C (p.Asn1997=) c.8952T>C (p.Asn2984=) c.8844T>C (p.Asn2948=) c.8826T>C (p.Asn2942=) c.5598T>C (p.Asn1866=) c.3528T>C (p.Asn1176=) c.8901T>C (p.Asn2967=) c.8847T>C (p.Asn2949=) c.8637T>C (p.Asn2879=) c.8283T>C (p.Asn2761=) c.6180T>C (p.Asn2060=) n.9130T>C c.8766T>C (p.Asn2922=) c.7962T>C (p.Asn2654=) c.7767T>C (p.Asn2589=) n.9179T>C | |
5 | g.37125247A>T | CA359498314 | CPLANE1 | n.1954T>A c.8955T>A (p.Asn2985Lys) n.816T>A c.8793T>A (p.Asn2931Lys) c.5967T>A (n.5967T>A) n.4136T>A n.342-3463T>A c.5991T>A (p.Asn1997Lys) c.8952T>A (p.Asn2984Lys) c.8844T>A (p.Asn2948Lys) c.8826T>A (p.Asn2942Lys) c.5598T>A (p.Asn1866Lys) c.3528T>A (p.Asn1176Lys) c.8901T>A (p.Asn2967Lys) c.8847T>A (p.Asn2949Lys) c.8637T>A (p.Asn2879Lys) c.8283T>A (p.Asn2761Lys) c.6180T>A (p.Asn2060Lys) n.9130T>A c.8766T>A (p.Asn2922Lys) c.7962T>A (p.Asn2654Lys) c.7767T>A (p.Asn2589Lys) n.9179T>A | |
5 | g.37125248T>A | CA359498319 | CPLANE1 | n.1953A>T c.8954A>T (p.Asn2985Ile) n.815A>T c.8792A>T (p.Asn2931Ile) c.5966A>T (n.5966A>T) n.4135A>T n.342-3464A>T c.5990A>T (p.Asn1997Ile) c.8951A>T (p.Asn2984Ile) c.8843A>T (p.Asn2948Ile) c.8825A>T (p.Asn2942Ile) c.5597A>T (p.Asn1866Ile) c.3527A>T (p.Asn1176Ile) c.8900A>T (p.Asn2967Ile) c.8846A>T (p.Asn2949Ile) c.8636A>T (p.Asn2879Ile) c.8282A>T (p.Asn2761Ile) c.6179A>T (p.Asn2060Ile) n.9129A>T c.8765A>T (p.Asn2922Ile) c.7961A>T (p.Asn2654Ile) c.7766A>T (p.Asn2589Ile) n.9178A>T | |
5 | g.37125248T>C | CA3237626 | CPLANE1 | n.1953A>G c.8954A>G (p.Asn2985Ser) n.815A>G c.8792A>G (p.Asn2931Ser) c.5966A>G (n.5966A>G) n.4135A>G n.342-3464A>G c.5990A>G (p.Asn1997Ser) c.8951A>G (p.Asn2984Ser) c.8843A>G (p.Asn2948Ser) c.8825A>G (p.Asn2942Ser) c.5597A>G (p.Asn1866Ser) c.3527A>G (p.Asn1176Ser) c.8900A>G (p.Asn2967Ser) c.8846A>G (p.Asn2949Ser) c.8636A>G (p.Asn2879Ser) c.8282A>G (p.Asn2761Ser) c.6179A>G (p.Asn2060Ser) n.9129A>G c.8765A>G (p.Asn2922Ser) c.7961A>G (p.Asn2654Ser) c.7766A>G (p.Asn2589Ser) n.9178A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37125248T>G | CA359498320 | CPLANE1 | n.1953A>C c.8954A>C (p.Asn2985Thr) n.815A>C c.8792A>C (p.Asn2931Thr) c.5966A>C (n.5966A>C) n.4135A>C n.342-3464A>C c.5990A>C (p.Asn1997Thr) c.8951A>C (p.Asn2984Thr) c.8843A>C (p.Asn2948Thr) c.8825A>C (p.Asn2942Thr) c.5597A>C (p.Asn1866Thr) c.3527A>C (p.Asn1176Thr) c.8900A>C (p.Asn2967Thr) c.8846A>C (p.Asn2949Thr) c.8636A>C (p.Asn2879Thr) c.8282A>C (p.Asn2761Thr) c.6179A>C (p.Asn2060Thr) n.9129A>C c.8765A>C (p.Asn2922Thr) c.7961A>C (p.Asn2654Thr) c.7766A>C (p.Asn2589Thr) n.9178A>C | |
5 | g.37125248T= | CA1539667574 | CPLANE1 | n.1953A= c.8954A= (p.Asn2985=) n.815A= c.8792A= (p.Asn2931=) c.5966A= (n.5966A=) n.4135A= n.342-3464A= c.5990A= (p.Asn1997=) c.8951A= (p.Asn2984=) c.8843A= (p.Asn2948=) c.8825A= (p.Asn2942=) c.5597A= (p.Asn1866=) c.3527A= (p.Asn1176=) c.8900A= (p.Asn2967=) c.8846A= (p.Asn2949=) c.8636A= (p.Asn2879=) c.8282A= (p.Asn2761=) c.6179A= (p.Asn2060=) n.9129A= c.8765A= (p.Asn2922=) c.7961A= (p.Asn2654=) c.7766A= (p.Asn2589=) n.9178A= | |
5 | g.37125249T>A | CA359498321 | CPLANE1 | n.1952A>T c.8953A>T (p.Asn2985Tyr) n.814A>T c.8791A>T (p.Asn2931Tyr) c.5965A>T (n.5965A>T) n.4134A>T n.342-3465A>T c.5989A>T (p.Asn1997Tyr) c.8950A>T (p.Asn2984Tyr) c.8842A>T (p.Asn2948Tyr) c.8824A>T (p.Asn2942Tyr) c.5596A>T (p.Asn1866Tyr) c.3526A>T (p.Asn1176Tyr) c.8899A>T (p.Asn2967Tyr) c.8845A>T (p.Asn2949Tyr) c.8635A>T (p.Asn2879Tyr) c.8281A>T (p.Asn2761Tyr) c.6178A>T (p.Asn2060Tyr) n.9128A>T c.8764A>T (p.Asn2922Tyr) c.7960A>T (p.Asn2654Tyr) c.7765A>T (p.Asn2589Tyr) n.9177A>T | |
5 | g.37125249T>C | CA359498323 | CPLANE1 | n.1952A>G c.8953A>G (p.Asn2985Asp) n.814A>G c.8791A>G (p.Asn2931Asp) c.5965A>G (n.5965A>G) n.4134A>G n.342-3465A>G c.5989A>G (p.Asn1997Asp) c.8950A>G (p.Asn2984Asp) c.8842A>G (p.Asn2948Asp) c.8824A>G (p.Asn2942Asp) c.5596A>G (p.Asn1866Asp) c.3526A>G (p.Asn1176Asp) c.8899A>G (p.Asn2967Asp) c.8845A>G (p.Asn2949Asp) c.8635A>G (p.Asn2879Asp) c.8281A>G (p.Asn2761Asp) c.6178A>G (p.Asn2060Asp) n.9128A>G c.8764A>G (p.Asn2922Asp) c.7960A>G (p.Asn2654Asp) c.7765A>G (p.Asn2589Asp) n.9177A>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37125249T>G | CA359498325 | CPLANE1 | n.1952A>C c.8953A>C (p.Asn2985His) n.814A>C c.8791A>C (p.Asn2931His) c.5965A>C (n.5965A>C) n.4134A>C n.342-3465A>C c.5989A>C (p.Asn1997His) c.8950A>C (p.Asn2984His) c.8842A>C (p.Asn2948His) c.8824A>C (p.Asn2942His) c.5596A>C (p.Asn1866His) c.3526A>C (p.Asn1176His) c.8899A>C (p.Asn2967His) c.8845A>C (p.Asn2949His) c.8635A>C (p.Asn2879His) c.8281A>C (p.Asn2761His) c.6178A>C (p.Asn2060His) n.9128A>C c.8764A>C (p.Asn2922His) c.7960A>C (p.Asn2654His) c.7765A>C (p.Asn2589His) n.9177A>C | |
5 | g.37125249T= | CA1539667576 | CPLANE1 | n.1952A= c.8953A= (p.Asn2985=) n.814A= c.8791A= (p.Asn2931=) c.5965A= (n.5965A=) n.4134A= n.342-3465A= c.5989A= (p.Asn1997=) c.8950A= (p.Asn2984=) c.8842A= (p.Asn2948=) c.8824A= (p.Asn2942=) c.5596A= (p.Asn1866=) c.3526A= (p.Asn1176=) c.8899A= (p.Asn2967=) c.8845A= (p.Asn2949=) c.8635A= (p.Asn2879=) c.8281A= (p.Asn2761=) c.6178A= (p.Asn2060=) n.9128A= c.8764A= (p.Asn2922=) c.7960A= (p.Asn2654=) c.7765A= (p.Asn2589=) n.9177A= | |
5 | g.37125250G>A | CA3237627 | CPLANE1 | n.1951C>T c.8952C>T (p.Ser2984=) n.813C>T c.8790C>T (p.Ser2930=) c.5964C>T (n.5964C>T) n.4133C>T n.342-3466C>T c.5988C>T (p.Ser1996=) c.8949C>T (p.Ser2983=) c.8841C>T (p.Ser2947=) c.8823C>T (p.Ser2941=) c.5595C>T (p.Ser1865=) c.3525C>T (p.Ser1175=) c.8898C>T (p.Ser2966=) c.8844C>T (p.Ser2948=) c.8634C>T (p.Ser2878=) c.8280C>T (p.Ser2760=) c.6177C>T (p.Ser2059=) n.9127C>T c.8763C>T (p.Ser2921=) c.7959C>T (p.Ser2653=) c.7764C>T (p.Ser2588=) n.9176C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37125250G>C | CA359498332 | CPLANE1 | n.1951C>G c.8952C>G (p.Ser2984Arg) n.813C>G c.8790C>G (p.Ser2930Arg) c.5964C>G (n.5964C>G) n.4133C>G n.342-3466C>G c.5988C>G (p.Ser1996Arg) c.8949C>G (p.Ser2983Arg) c.8841C>G (p.Ser2947Arg) c.8823C>G (p.Ser2941Arg) c.5595C>G (p.Ser1865Arg) c.3525C>G (p.Ser1175Arg) c.8898C>G (p.Ser2966Arg) c.8844C>G (p.Ser2948Arg) c.8634C>G (p.Ser2878Arg) c.8280C>G (p.Ser2760Arg) c.6177C>G (p.Ser2059Arg) n.9127C>G c.8763C>G (p.Ser2921Arg) c.7959C>G (p.Ser2653Arg) c.7764C>G (p.Ser2588Arg) n.9176C>G | |
5 | g.37125250G= | CA1539667578 | CPLANE1 | n.1951C= c.8952C= (p.Ser2984=) n.813C= c.8790C= (p.Ser2930=) c.5964C= (n.5964C=) n.4133C= n.342-3466C= c.5988C= (p.Ser1996=) c.8949C= (p.Ser2983=) c.8841C= (p.Ser2947=) c.8823C= (p.Ser2941=) c.5595C= (p.Ser1865=) c.3525C= (p.Ser1175=) c.8898C= (p.Ser2966=) c.8844C= (p.Ser2948=) c.8634C= (p.Ser2878=) c.8280C= (p.Ser2760=) c.6177C= (p.Ser2059=) n.9127C= c.8763C= (p.Ser2921=) c.7959C= (p.Ser2653=) c.7764C= (p.Ser2588=) n.9176C= | |
5 | g.37125250G>T | CA359498335 | CPLANE1 | n.1951C>A c.8952C>A (p.Ser2984Arg) n.813C>A c.8790C>A (p.Ser2930Arg) c.5964C>A (n.5964C>A) n.4133C>A n.342-3466C>A c.5988C>A (p.Ser1996Arg) c.8949C>A (p.Ser2983Arg) c.8841C>A (p.Ser2947Arg) c.8823C>A (p.Ser2941Arg) c.5595C>A (p.Ser1865Arg) c.3525C>A (p.Ser1175Arg) c.8898C>A (p.Ser2966Arg) c.8844C>A (p.Ser2948Arg) c.8634C>A (p.Ser2878Arg) c.8280C>A (p.Ser2760Arg) c.6177C>A (p.Ser2059Arg) n.9127C>A c.8763C>A (p.Ser2921Arg) c.7959C>A (p.Ser2653Arg) c.7764C>A (p.Ser2588Arg) n.9176C>A | |
5 | g.37125251C>A | CA359498340 | CPLANE1 | n.1950G>T c.8951G>T (p.Ser2984Ile) n.812G>T c.8789G>T (p.Ser2930Ile) c.5963G>T (n.5963G>T) n.4132G>T n.342-3467G>T c.5987G>T (p.Ser1996Ile) c.8948G>T (p.Ser2983Ile) c.8840G>T (p.Ser2947Ile) c.8822G>T (p.Ser2941Ile) c.5594G>T (p.Ser1865Ile) c.3524G>T (p.Ser1175Ile) c.8897G>T (p.Ser2966Ile) c.8843G>T (p.Ser2948Ile) c.8633G>T (p.Ser2878Ile) c.8279G>T (p.Ser2760Ile) c.6176G>T (p.Ser2059Ile) n.9126G>T c.8762G>T (p.Ser2921Ile) c.7958G>T (p.Ser2653Ile) c.7763G>T (p.Ser2588Ile) n.9175G>T | |
5 | g.37125251C= | CA1539667580 | CPLANE1 | n.1950G= c.8951G= (p.Ser2984=) n.812G= c.8789G= (p.Ser2930=) c.5963G= (n.5963G=) n.4132G= n.342-3467G= c.5987G= (p.Ser1996=) c.8948G= (p.Ser2983=) c.8840G= (p.Ser2947=) c.8822G= (p.Ser2941=) c.5594G= (p.Ser1865=) c.3524G= (p.Ser1175=) c.8897G= (p.Ser2966=) c.8843G= (p.Ser2948=) c.8633G= (p.Ser2878=) c.8279G= (p.Ser2760=) c.6176G= (p.Ser2059=) n.9126G= c.8762G= (p.Ser2921=) c.7958G= (p.Ser2653=) c.7763G= (p.Ser2588=) n.9175G= | |
5 | g.37125251C>G | CA359498344 | CPLANE1 | n.1950G>C c.8951G>C (p.Ser2984Thr) n.812G>C c.8789G>C (p.Ser2930Thr) c.5963G>C (n.5963G>C) n.4132G>C n.342-3467G>C c.5987G>C (p.Ser1996Thr) c.8948G>C (p.Ser2983Thr) c.8840G>C (p.Ser2947Thr) c.8822G>C (p.Ser2941Thr) c.5594G>C (p.Ser1865Thr) c.3524G>C (p.Ser1175Thr) c.8897G>C (p.Ser2966Thr) c.8843G>C (p.Ser2948Thr) c.8633G>C (p.Ser2878Thr) c.8279G>C (p.Ser2760Thr) c.6176G>C (p.Ser2059Thr) n.9126G>C c.8762G>C (p.Ser2921Thr) c.7958G>C (p.Ser2653Thr) c.7763G>C (p.Ser2588Thr) n.9175G>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37125251C>T | CA359498353 | CPLANE1 | n.1950G>A c.8951G>A (p.Ser2984Asn) n.812G>A c.8789G>A (p.Ser2930Asn) c.5963G>A (n.5963G>A) n.4132G>A n.342-3467G>A c.5987G>A (p.Ser1996Asn) c.8948G>A (p.Ser2983Asn) c.8840G>A (p.Ser2947Asn) c.8822G>A (p.Ser2941Asn) c.5594G>A (p.Ser1865Asn) c.3524G>A (p.Ser1175Asn) c.8897G>A (p.Ser2966Asn) c.8843G>A (p.Ser2948Asn) c.8633G>A (p.Ser2878Asn) c.8279G>A (p.Ser2760Asn) c.6176G>A (p.Ser2059Asn) n.9126G>A c.8762G>A (p.Ser2921Asn) c.7958G>A (p.Ser2653Asn) c.7763G>A (p.Ser2588Asn) n.9175G>A | |
5 | g.37125252T>A | CA359498378 | CPLANE1 | n.1949A>T c.8950A>T (p.Ser2984Cys) n.811A>T c.8788A>T (p.Ser2930Cys) c.5962A>T (n.5962A>T) n.4131A>T n.342-3468A>T c.5986A>T (p.Ser1996Cys) c.8947A>T (p.Ser2983Cys) c.8839A>T (p.Ser2947Cys) c.8821A>T (p.Ser2941Cys) c.5593A>T (p.Ser1865Cys) c.3523A>T (p.Ser1175Cys) c.8896A>T (p.Ser2966Cys) c.8842A>T (p.Ser2948Cys) c.8632A>T (p.Ser2878Cys) c.8278A>T (p.Ser2760Cys) c.6175A>T (p.Ser2059Cys) n.9125A>T c.8761A>T (p.Ser2921Cys) c.7957A>T (p.Ser2653Cys) c.7762A>T (p.Ser2588Cys) n.9174A>T | |
5 | g.37125252T>C | CA359498371 | CPLANE1 | n.1949A>G c.8950A>G (p.Ser2984Gly) n.811A>G c.8788A>G (p.Ser2930Gly) c.5962A>G (n.5962A>G) n.4131A>G n.342-3468A>G c.5986A>G (p.Ser1996Gly) c.8947A>G (p.Ser2983Gly) c.8839A>G (p.Ser2947Gly) c.8821A>G (p.Ser2941Gly) c.5593A>G (p.Ser1865Gly) c.3523A>G (p.Ser1175Gly) c.8896A>G (p.Ser2966Gly) c.8842A>G (p.Ser2948Gly) c.8632A>G (p.Ser2878Gly) c.8278A>G (p.Ser2760Gly) c.6175A>G (p.Ser2059Gly) n.9125A>G c.8761A>G (p.Ser2921Gly) c.7957A>G (p.Ser2653Gly) c.7762A>G (p.Ser2588Gly) n.9174A>G | |
5 | g.37125252T>G | CA359498359 | CPLANE1 | n.1949A>C c.8950A>C (p.Ser2984Arg) n.811A>C c.8788A>C (p.Ser2930Arg) c.5962A>C (n.5962A>C) n.4131A>C n.342-3468A>C c.5986A>C (p.Ser1996Arg) c.8947A>C (p.Ser2983Arg) c.8839A>C (p.Ser2947Arg) c.8821A>C (p.Ser2941Arg) c.5593A>C (p.Ser1865Arg) c.3523A>C (p.Ser1175Arg) c.8896A>C (p.Ser2966Arg) c.8842A>C (p.Ser2948Arg) c.8632A>C (p.Ser2878Arg) c.8278A>C (p.Ser2760Arg) c.6175A>C (p.Ser2059Arg) n.9125A>C c.8761A>C (p.Ser2921Arg) c.7957A>C (p.Ser2653Arg) c.7762A>C (p.Ser2588Arg) n.9174A>C | |
5 | g.37125253T>A | CA359498381 | CPLANE1 | n.1948A>T c.8949A>T (p.Arg2983Ser) n.810A>T c.8787A>T (p.Arg2929Ser) c.5961A>T (n.5961A>T) n.4130A>T n.342-3469A>T c.5985A>T (p.Arg1995Ser) c.8946A>T (p.Arg2982Ser) c.8838A>T (p.Arg2946Ser) c.8820A>T (p.Arg2940Ser) c.5592A>T (p.Arg1864Ser) c.3522A>T (p.Arg1174Ser) c.8895A>T (p.Arg2965Ser) c.8841A>T (p.Arg2947Ser) c.8631A>T (p.Arg2877Ser) c.8277A>T (p.Arg2759Ser) c.6174A>T (p.Arg2058Ser) n.9124A>T c.8760A>T (p.Arg2920Ser) c.7956A>T (p.Arg2652Ser) c.7761A>T (p.Arg2587Ser) n.9173A>T | |
5 | g.37125253T>C | CA443921978 | CPLANE1 | n.1948A>G c.8949A>G (p.Arg2983=) n.810A>G c.8787A>G (p.Arg2929=) c.5961A>G (n.5961A>G) n.4130A>G n.342-3469A>G c.5985A>G (p.Arg1995=) c.8946A>G (p.Arg2982=) c.8838A>G (p.Arg2946=) c.8820A>G (p.Arg2940=) c.5592A>G (p.Arg1864=) c.3522A>G (p.Arg1174=) c.8895A>G (p.Arg2965=) c.8841A>G (p.Arg2947=) c.8631A>G (p.Arg2877=) c.8277A>G (p.Arg2759=) c.6174A>G (p.Arg2058=) n.9124A>G c.8760A>G (p.Arg2920=) c.7956A>G (p.Arg2652=) c.7761A>G (p.Arg2587=) n.9173A>G | |
5 | g.37125253T>G | CA359498382 | CPLANE1 | n.1948A>C c.8949A>C (p.Arg2983Ser) n.810A>C c.8787A>C (p.Arg2929Ser) c.5961A>C (n.5961A>C) n.4130A>C n.342-3469A>C c.5985A>C (p.Arg1995Ser) c.8946A>C (p.Arg2982Ser) c.8838A>C (p.Arg2946Ser) c.8820A>C (p.Arg2940Ser) c.5592A>C (p.Arg1864Ser) c.3522A>C (p.Arg1174Ser) c.8895A>C (p.Arg2965Ser) c.8841A>C (p.Arg2947Ser) c.8631A>C (p.Arg2877Ser) c.8277A>C (p.Arg2759Ser) c.6174A>C (p.Arg2058Ser) n.9124A>C c.8760A>C (p.Arg2920Ser) c.7956A>C (p.Arg2652Ser) c.7761A>C (p.Arg2587Ser) n.9173A>C | |
5 | g.37125254C>A | CA359498383 | CPLANE1 | n.1947G>T c.8948G>T (p.Arg2983Ile) n.809G>T c.8786G>T (p.Arg2929Ile) c.5960G>T (n.5960G>T) n.4129G>T n.342-3470G>T c.5984G>T (p.Arg1995Ile) c.8945G>T (p.Arg2982Ile) c.8837G>T (p.Arg2946Ile) c.8819G>T (p.Arg2940Ile) c.5591G>T (p.Arg1864Ile) c.3521G>T (p.Arg1174Ile) c.8894G>T (p.Arg2965Ile) c.8840G>T (p.Arg2947Ile) c.8630G>T (p.Arg2877Ile) c.8276G>T (p.Arg2759Ile) c.6173G>T (p.Arg2058Ile) n.9123G>T c.8759G>T (p.Arg2920Ile) c.7955G>T (p.Arg2652Ile) c.7760G>T (p.Arg2587Ile) n.9172G>T | |
5 | g.37125254C>G | CA359498387 | CPLANE1 | n.1947G>C c.8948G>C (p.Arg2983Thr) n.809G>C c.8786G>C (p.Arg2929Thr) c.5960G>C (n.5960G>C) n.4129G>C n.342-3470G>C c.5984G>C (p.Arg1995Thr) c.8945G>C (p.Arg2982Thr) c.8837G>C (p.Arg2946Thr) c.8819G>C (p.Arg2940Thr) c.5591G>C (p.Arg1864Thr) c.3521G>C (p.Arg1174Thr) c.8894G>C (p.Arg2965Thr) c.8840G>C (p.Arg2947Thr) c.8630G>C (p.Arg2877Thr) c.8276G>C (p.Arg2759Thr) c.6173G>C (p.Arg2058Thr) n.9123G>C c.8759G>C (p.Arg2920Thr) c.7955G>C (p.Arg2652Thr) c.7760G>C (p.Arg2587Thr) n.9172G>C | |
5 | g.37125254C>T | CA359498390 | CPLANE1 | n.1947G>A c.8948G>A (p.Arg2983Lys) n.809G>A c.8786G>A (p.Arg2929Lys) c.5960G>A (n.5960G>A) n.4129G>A n.342-3470G>A c.5984G>A (p.Arg1995Lys) c.8945G>A (p.Arg2982Lys) c.8837G>A (p.Arg2946Lys) c.8819G>A (p.Arg2940Lys) c.5591G>A (p.Arg1864Lys) c.3521G>A (p.Arg1174Lys) c.8894G>A (p.Arg2965Lys) c.8840G>A (p.Arg2947Lys) c.8630G>A (p.Arg2877Lys) c.8276G>A (p.Arg2759Lys) c.6173G>A (p.Arg2058Lys) n.9123G>A c.8759G>A (p.Arg2920Lys) c.7955G>A (p.Arg2652Lys) c.7760G>A (p.Arg2587Lys) n.9172G>A | gnomAD v4 |
5 | g.37125254_37125271delinsCTGGGACAGAAAGGATCA | CA1539667582 | CPLANE1 | n.1930_1947delinsTGATCCTTTCTGTCCCAG c.8931_8948delinsTGATCCTTTCTGTCCCAG (p.His2977=) n.792_809delinsTGATCCTTTCTGTCCCAG c.8769_8786delinsTGATCCTTTCTGTCCCAG (p.His2923=) c.5943_5960delinsTGATCCTTTCTGTCCCAG (n.5943_5960delinsTGATCCTTTCTGTCCCAG) n.4112_4129delinsTGATCCTTTCTGTCCCAG n.342-3487_342-3470delinsTGATCCTTTCTGTCCCAG c.5967_5984delinsTGATCCTTTCTGTCCCAG (p.His1989=) c.8928_8945delinsTGATCCTTTCTGTCCCAG (p.His2976=) c.8820_8837delinsTGATCCTTTCTGTCCCAG (p.His2940=) c.8802_8819delinsTGATCCTTTCTGTCCCAG (p.His2934=) c.5574_5591delinsTGATCCTTTCTGTCCCAG (p.His1858=) c.3504_3521delinsTGATCCTTTCTGTCCCAG (p.His1168=) c.8877_8894delinsTGATCCTTTCTGTCCCAG (p.His2959=) c.8823_8840delinsTGATCCTTTCTGTCCCAG (p.His2941=) c.8613_8630delinsTGATCCTTTCTGTCCCAG (p.His2871=) c.8259_8276delinsTGATCCTTTCTGTCCCAG (p.His2753=) c.6156_6173delinsTGATCCTTTCTGTCCCAG (p.His2052=) n.9106_9123delinsTGATCCTTTCTGTCCCAG c.8742_8759delinsTGATCCTTTCTGTCCCAG (p.His2914=) c.7938_7955delinsTGATCCTTTCTGTCCCAG (p.His2646=) c.7743_7760delinsTGATCCTTTCTGTCCCAG (p.His2581=) n.9155_9172delinsTGATCCTTTCTGTCCCAG | |
5 | g.37125255T>A | CA359498396 | CPLANE1 | n.1946A>T c.8947A>T (p.Arg2983Ter) n.808A>T c.8785A>T (p.Arg2929Ter) c.5959A>T (n.5959A>T) n.4128A>T n.342-3471A>T c.5983A>T (p.Arg1995Ter) c.8944A>T (p.Arg2982Ter) c.8836A>T (p.Arg2946Ter) c.8818A>T (p.Arg2940Ter) c.5590A>T (p.Arg1864Ter) c.3520A>T (p.Arg1174Ter) c.8893A>T (p.Arg2965Ter) c.8839A>T (p.Arg2947Ter) c.8629A>T (p.Arg2877Ter) c.8275A>T (p.Arg2759Ter) c.6172A>T (p.Arg2058Ter) n.9122A>T c.8758A>T (p.Arg2920Ter) c.7954A>T (p.Arg2652Ter) c.7759A>T (p.Arg2587Ter) n.9171A>T | ClinVar dbSNP |
5 | g.37125255T>C | CA359498398 | CPLANE1 | n.1946A>G c.8947A>G (p.Arg2983Gly) n.808A>G c.8785A>G (p.Arg2929Gly) c.5959A>G (n.5959A>G) n.4128A>G n.342-3471A>G c.5983A>G (p.Arg1995Gly) c.8944A>G (p.Arg2982Gly) c.8836A>G (p.Arg2946Gly) c.8818A>G (p.Arg2940Gly) c.5590A>G (p.Arg1864Gly) c.3520A>G (p.Arg1174Gly) c.8893A>G (p.Arg2965Gly) c.8839A>G (p.Arg2947Gly) c.8629A>G (p.Arg2877Gly) c.8275A>G (p.Arg2759Gly) c.6172A>G (p.Arg2058Gly) n.9122A>G c.8758A>G (p.Arg2920Gly) c.7954A>G (p.Arg2652Gly) c.7759A>G (p.Arg2587Gly) n.9171A>G | dbSNP |
5 | g.37125255T>G | CA443921979 | CPLANE1 | n.1946A>C c.8947A>C (p.Arg2983=) n.808A>C c.8785A>C (p.Arg2929=) c.5959A>C (n.5959A>C) n.4128A>C n.342-3471A>C c.5983A>C (p.Arg1995=) c.8944A>C (p.Arg2982=) c.8836A>C (p.Arg2946=) c.8818A>C (p.Arg2940=) c.5590A>C (p.Arg1864=) c.3520A>C (p.Arg1174=) c.8893A>C (p.Arg2965=) c.8839A>C (p.Arg2947=) c.8629A>C (p.Arg2877=) c.8275A>C (p.Arg2759=) c.6172A>C (p.Arg2058=) n.9122A>C c.8758A>C (p.Arg2920=) c.7954A>C (p.Arg2652=) c.7759A>C (p.Arg2587=) n.9171A>C | |
5 | g.37125255T= | CA1539667584 | CPLANE1 | n.1946A= c.8947A= (p.Arg2983=) n.808A= c.8785A= (p.Arg2929=) c.5959A= (n.5959A=) n.4128A= n.342-3471A= c.5983A= (p.Arg1995=) c.8944A= (p.Arg2982=) c.8836A= (p.Arg2946=) c.8818A= (p.Arg2940=) c.5590A= (p.Arg1864=) c.3520A= (p.Arg1174=) c.8893A= (p.Arg2965=) c.8839A= (p.Arg2947=) c.8629A= (p.Arg2877=) c.8275A= (p.Arg2759=) c.6172A= (p.Arg2058=) n.9122A= c.8758A= (p.Arg2920=) c.7954A= (p.Arg2652=) c.7759A= (p.Arg2587=) n.9171A= | |
5 | g.37125257_37125273del | CA559295394 | CPLANE1 | n.1930_1946del c.8931_8947del (p.His2977GlnfsTer21) n.792_808del c.8769_8785del (p.His2923GlnfsTer21) c.5943_5959del (n.5943_5959del) n.4112_4128del n.342-3487_342-3471del c.5967_5983del (p.His1989GlnfsTer21) c.8928_8944del (p.His2976GlnfsTer21) c.8820_8836del (p.His2940GlnfsTer21) c.8802_8818del (p.His2934GlnfsTer21) c.5574_5590del (p.His1858GlnfsTer21) c.3504_3520del (p.His1168GlnfsTer21) c.8877_8893del (p.His2959GlnfsTer21) c.8823_8839del (p.His2941GlnfsTer21) c.8613_8629del (p.His2871GlnfsTer21) c.8259_8275del (p.His2753GlnfsTer21) c.6156_6172del (p.His2052GlnfsTer21) n.9106_9122del c.8742_8758del (p.His2914GlnfsTer21) c.7938_7954del (p.His2646GlnfsTer21) c.7743_7759del (p.His2581GlnfsTer21) n.9155_9171del | dbSNP gnomAD v2 |
5 | g.37125256G>A | CA443921980 | CPLANE1 | n.1945C>T c.8946C>T (p.Pro2982=) n.807C>T c.8784C>T (p.Pro2928=) c.5958C>T (n.5958C>T) n.4127C>T n.342-3472C>T c.5982C>T (p.Pro1994=) c.8943C>T (p.Pro2981=) c.8835C>T (p.Pro2945=) c.8817C>T (p.Pro2939=) c.5589C>T (p.Pro1863=) c.3519C>T (p.Pro1173=) c.8892C>T (p.Pro2964=) c.8838C>T (p.Pro2946=) c.8628C>T (p.Pro2876=) c.8274C>T (p.Pro2758=) c.6171C>T (p.Pro2057=) n.9121C>T c.8757C>T (p.Pro2919=) c.7953C>T (p.Pro2651=) c.7758C>T (p.Pro2586=) n.9170C>T | |
5 | g.37125256G>C | CA443921981 | CPLANE1 | n.1945C>G c.8946C>G (p.Pro2982=) n.807C>G c.8784C>G (p.Pro2928=) c.5958C>G (n.5958C>G) n.4127C>G n.342-3472C>G c.5982C>G (p.Pro1994=) c.8943C>G (p.Pro2981=) c.8835C>G (p.Pro2945=) c.8817C>G (p.Pro2939=) c.5589C>G (p.Pro1863=) c.3519C>G (p.Pro1173=) c.8892C>G (p.Pro2964=) c.8838C>G (p.Pro2946=) c.8628C>G (p.Pro2876=) c.8274C>G (p.Pro2758=) c.6171C>G (p.Pro2057=) n.9121C>G c.8757C>G (p.Pro2919=) c.7953C>G (p.Pro2651=) c.7758C>G (p.Pro2586=) n.9170C>G | |
5 | g.37125256G>T | CA443921982 | CPLANE1 | n.1945C>A c.8946C>A (p.Pro2982=) n.807C>A c.8784C>A (p.Pro2928=) c.5958C>A (n.5958C>A) n.4127C>A n.342-3472C>A c.5982C>A (p.Pro1994=) c.8943C>A (p.Pro2981=) c.8835C>A (p.Pro2945=) c.8817C>A (p.Pro2939=) c.5589C>A (p.Pro1863=) c.3519C>A (p.Pro1173=) c.8892C>A (p.Pro2964=) c.8838C>A (p.Pro2946=) c.8628C>A (p.Pro2876=) c.8274C>A (p.Pro2758=) c.6171C>A (p.Pro2057=) n.9121C>A c.8757C>A (p.Pro2919=) c.7953C>A (p.Pro2651=) c.7758C>A (p.Pro2586=) n.9170C>A | |
5 | g.37125257G>A | CA359498408 | CPLANE1 | n.1944C>T c.8945C>T (p.Pro2982Leu) n.806C>T c.8783C>T (p.Pro2928Leu) c.5957C>T (n.5957C>T) n.4126C>T n.342-3473C>T c.5981C>T (p.Pro1994Leu) c.8942C>T (p.Pro2981Leu) c.8834C>T (p.Pro2945Leu) c.8816C>T (p.Pro2939Leu) c.5588C>T (p.Pro1863Leu) c.3518C>T (p.Pro1173Leu) c.8891C>T (p.Pro2964Leu) c.8837C>T (p.Pro2946Leu) c.8627C>T (p.Pro2876Leu) c.8273C>T (p.Pro2758Leu) c.6170C>T (p.Pro2057Leu) n.9120C>T c.8756C>T (p.Pro2919Leu) c.7952C>T (p.Pro2651Leu) c.7757C>T (p.Pro2586Leu) n.9169C>T | |
5 | g.37125257G>C | CA359498400 | CPLANE1 | n.1944C>G c.8945C>G (p.Pro2982Arg) n.806C>G c.8783C>G (p.Pro2928Arg) c.5957C>G (n.5957C>G) n.4126C>G n.342-3473C>G c.5981C>G (p.Pro1994Arg) c.8942C>G (p.Pro2981Arg) c.8834C>G (p.Pro2945Arg) c.8816C>G (p.Pro2939Arg) c.5588C>G (p.Pro1863Arg) c.3518C>G (p.Pro1173Arg) c.8891C>G (p.Pro2964Arg) c.8837C>G (p.Pro2946Arg) c.8627C>G (p.Pro2876Arg) c.8273C>G (p.Pro2758Arg) c.6170C>G (p.Pro2057Arg) n.9120C>G c.8756C>G (p.Pro2919Arg) c.7952C>G (p.Pro2651Arg) c.7757C>G (p.Pro2586Arg) n.9169C>G | |
5 | g.37125257G>T | CA359498404 | CPLANE1 | n.1944C>A c.8945C>A (p.Pro2982His) n.806C>A c.8783C>A (p.Pro2928His) c.5957C>A (n.5957C>A) n.4126C>A n.342-3473C>A c.5981C>A (p.Pro1994His) c.8942C>A (p.Pro2981His) c.8834C>A (p.Pro2945His) c.8816C>A (p.Pro2939His) c.5588C>A (p.Pro1863His) c.3518C>A (p.Pro1173His) c.8891C>A (p.Pro2964His) c.8837C>A (p.Pro2946His) c.8627C>A (p.Pro2876His) c.8273C>A (p.Pro2758His) c.6170C>A (p.Pro2057His) n.9120C>A c.8756C>A (p.Pro2919His) c.7952C>A (p.Pro2651His) c.7757C>A (p.Pro2586His) n.9169C>A | |
5 | g.37125258G>A | CA359498414 | CPLANE1 | n.1943C>T c.8944C>T (p.Pro2982Ser) n.805C>T c.8782C>T (p.Pro2928Ser) c.5956C>T (n.5956C>T) n.4125C>T n.342-3474C>T c.5980C>T (p.Pro1994Ser) c.8941C>T (p.Pro2981Ser) c.8833C>T (p.Pro2945Ser) c.8815C>T (p.Pro2939Ser) c.5587C>T (p.Pro1863Ser) c.3517C>T (p.Pro1173Ser) c.8890C>T (p.Pro2964Ser) c.8836C>T (p.Pro2946Ser) c.8626C>T (p.Pro2876Ser) c.8272C>T (p.Pro2758Ser) c.6169C>T (p.Pro2057Ser) n.9119C>T c.8755C>T (p.Pro2919Ser) c.7951C>T (p.Pro2651Ser) c.7756C>T (p.Pro2586Ser) n.9168C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37125258G>C | CA359498417 | CPLANE1 | n.1943C>G c.8944C>G (p.Pro2982Ala) n.805C>G c.8782C>G (p.Pro2928Ala) c.5956C>G (n.5956C>G) n.4125C>G n.342-3474C>G c.5980C>G (p.Pro1994Ala) c.8941C>G (p.Pro2981Ala) c.8833C>G (p.Pro2945Ala) c.8815C>G (p.Pro2939Ala) c.5587C>G (p.Pro1863Ala) c.3517C>G (p.Pro1173Ala) c.8890C>G (p.Pro2964Ala) c.8836C>G (p.Pro2946Ala) c.8626C>G (p.Pro2876Ala) c.8272C>G (p.Pro2758Ala) c.6169C>G (p.Pro2057Ala) n.9119C>G c.8755C>G (p.Pro2919Ala) c.7951C>G (p.Pro2651Ala) c.7756C>G (p.Pro2586Ala) n.9168C>G | |
5 | g.37125258G= | CA1539667587 | CPLANE1 | n.1943C= c.8944C= (p.Pro2982=) n.805C= c.8782C= (p.Pro2928=) c.5956C= (n.5956C=) n.4125C= n.342-3474C= c.5980C= (p.Pro1994=) c.8941C= (p.Pro2981=) c.8833C= (p.Pro2945=) c.8815C= (p.Pro2939=) c.5587C= (p.Pro1863=) c.3517C= (p.Pro1173=) c.8890C= (p.Pro2964=) c.8836C= (p.Pro2946=) c.8626C= (p.Pro2876=) c.8272C= (p.Pro2758=) c.6169C= (p.Pro2057=) n.9119C= c.8755C= (p.Pro2919=) c.7951C= (p.Pro2651=) c.7756C= (p.Pro2586=) n.9168C= | |
5 | g.37125258G>T | CA359498418 | CPLANE1 | n.1943C>A c.8944C>A (p.Pro2982Thr) n.805C>A c.8782C>A (p.Pro2928Thr) c.5956C>A (n.5956C>A) n.4125C>A n.342-3474C>A c.5980C>A (p.Pro1994Thr) c.8941C>A (p.Pro2981Thr) c.8833C>A (p.Pro2945Thr) c.8815C>A (p.Pro2939Thr) c.5587C>A (p.Pro1863Thr) c.3517C>A (p.Pro1173Thr) c.8890C>A (p.Pro2964Thr) c.8836C>A (p.Pro2946Thr) c.8626C>A (p.Pro2876Thr) c.8272C>A (p.Pro2758Thr) c.6169C>A (p.Pro2057Thr) n.9119C>A c.8755C>A (p.Pro2919Thr) c.7951C>A (p.Pro2651Thr) c.7756C>A (p.Pro2586Thr) n.9168C>A | gnomAD v4 |
5 | g.37125259A>C | CA359498420 | CPLANE1 | n.1942T>G c.8943T>G (p.Cys2981Trp) n.804T>G c.8781T>G (p.Cys2927Trp) c.5955T>G (n.5955T>G) n.4124T>G n.342-3475T>G c.5979T>G (p.Cys1993Trp) c.8940T>G (p.Cys2980Trp) c.8832T>G (p.Cys2944Trp) c.8814T>G (p.Cys2938Trp) c.5586T>G (p.Cys1862Trp) c.3516T>G (p.Cys1172Trp) c.8889T>G (p.Cys2963Trp) c.8835T>G (p.Cys2945Trp) c.8625T>G (p.Cys2875Trp) c.8271T>G (p.Cys2757Trp) c.6168T>G (p.Cys2056Trp) n.9118T>G c.8754T>G (p.Cys2918Trp) c.7950T>G (p.Cys2650Trp) c.7755T>G (p.Cys2585Trp) n.9167T>G | |
5 | g.37125259A>G | CA443921983 | CPLANE1 | n.1942T>C c.8943T>C (p.Cys2981=) n.804T>C c.8781T>C (p.Cys2927=) c.5955T>C (n.5955T>C) n.4124T>C n.342-3475T>C c.5979T>C (p.Cys1993=) c.8940T>C (p.Cys2980=) c.8832T>C (p.Cys2944=) c.8814T>C (p.Cys2938=) c.5586T>C (p.Cys1862=) c.3516T>C (p.Cys1172=) c.8889T>C (p.Cys2963=) c.8835T>C (p.Cys2945=) c.8625T>C (p.Cys2875=) c.8271T>C (p.Cys2757=) c.6168T>C (p.Cys2056=) n.9118T>C c.8754T>C (p.Cys2918=) c.7950T>C (p.Cys2650=) c.7755T>C (p.Cys2585=) n.9167T>C | |
5 | g.37125259A>T | CA359498421 | CPLANE1 | n.1942T>A c.8943T>A (p.Cys2981Ter) n.804T>A c.8781T>A (p.Cys2927Ter) c.5955T>A (n.5955T>A) n.4124T>A n.342-3475T>A c.5979T>A (p.Cys1993Ter) c.8940T>A (p.Cys2980Ter) c.8832T>A (p.Cys2944Ter) c.8814T>A (p.Cys2938Ter) c.5586T>A (p.Cys1862Ter) c.3516T>A (p.Cys1172Ter) c.8889T>A (p.Cys2963Ter) c.8835T>A (p.Cys2945Ter) c.8625T>A (p.Cys2875Ter) c.8271T>A (p.Cys2757Ter) c.6168T>A (p.Cys2056Ter) n.9118T>A c.8754T>A (p.Cys2918Ter) c.7950T>A (p.Cys2650Ter) c.7755T>A (p.Cys2585Ter) n.9167T>A | |
5 | g.37125260C>A | CA359498424 | CPLANE1 | n.1941G>T c.8942G>T (p.Cys2981Phe) n.803G>T c.8780G>T (p.Cys2927Phe) c.5954G>T (n.5954G>T) n.4123G>T n.342-3476G>T c.5978G>T (p.Cys1993Phe) c.8939G>T (p.Cys2980Phe) c.8831G>T (p.Cys2944Phe) c.8813G>T (p.Cys2938Phe) c.5585G>T (p.Cys1862Phe) c.3515G>T (p.Cys1172Phe) c.8888G>T (p.Cys2963Phe) c.8834G>T (p.Cys2945Phe) c.8624G>T (p.Cys2875Phe) c.8270G>T (p.Cys2757Phe) c.6167G>T (p.Cys2056Phe) n.9117G>T c.8753G>T (p.Cys2918Phe) c.7949G>T (p.Cys2650Phe) c.7754G>T (p.Cys2585Phe) n.9166G>T | |
5 | g.37125260C>G | CA359498432 | CPLANE1 | n.1941G>C c.8942G>C (p.Cys2981Ser) n.803G>C c.8780G>C (p.Cys2927Ser) c.5954G>C (n.5954G>C) n.4123G>C n.342-3476G>C c.5978G>C (p.Cys1993Ser) c.8939G>C (p.Cys2980Ser) c.8831G>C (p.Cys2944Ser) c.8813G>C (p.Cys2938Ser) c.5585G>C (p.Cys1862Ser) c.3515G>C (p.Cys1172Ser) c.8888G>C (p.Cys2963Ser) c.8834G>C (p.Cys2945Ser) c.8624G>C (p.Cys2875Ser) c.8270G>C (p.Cys2757Ser) c.6167G>C (p.Cys2056Ser) n.9117G>C c.8753G>C (p.Cys2918Ser) c.7949G>C (p.Cys2650Ser) c.7754G>C (p.Cys2585Ser) n.9166G>C | |
5 | g.37125260C>T | CA359498430 | CPLANE1 | n.1941G>A c.8942G>A (p.Cys2981Tyr) n.803G>A c.8780G>A (p.Cys2927Tyr) c.5954G>A (n.5954G>A) n.4123G>A n.342-3476G>A c.5978G>A (p.Cys1993Tyr) c.8939G>A (p.Cys2980Tyr) c.8831G>A (p.Cys2944Tyr) c.8813G>A (p.Cys2938Tyr) c.5585G>A (p.Cys1862Tyr) c.3515G>A (p.Cys1172Tyr) c.8888G>A (p.Cys2963Tyr) c.8834G>A (p.Cys2945Tyr) c.8624G>A (p.Cys2875Tyr) c.8270G>A (p.Cys2757Tyr) c.6167G>A (p.Cys2056Tyr) n.9117G>A c.8753G>A (p.Cys2918Tyr) c.7949G>A (p.Cys2650Tyr) c.7754G>A (p.Cys2585Tyr) n.9166G>A | |
5 | g.37125261A>C | CA359498434 | CPLANE1 | n.1940T>G c.8941T>G (p.Cys2981Gly) n.802T>G c.8779T>G (p.Cys2927Gly) c.5953T>G (n.5953T>G) n.4122T>G n.342-3477T>G c.5977T>G (p.Cys1993Gly) c.8938T>G (p.Cys2980Gly) c.8830T>G (p.Cys2944Gly) c.8812T>G (p.Cys2938Gly) c.5584T>G (p.Cys1862Gly) c.3514T>G (p.Cys1172Gly) c.8887T>G (p.Cys2963Gly) c.8833T>G (p.Cys2945Gly) c.8623T>G (p.Cys2875Gly) c.8269T>G (p.Cys2757Gly) c.6166T>G (p.Cys2056Gly) n.9116T>G c.8752T>G (p.Cys2918Gly) c.7948T>G (p.Cys2650Gly) c.7753T>G (p.Cys2585Gly) n.9165T>G | |
5 | g.37125261A>G | CA359498435 | CPLANE1 | n.1940T>C c.8941T>C (p.Cys2981Arg) n.802T>C c.8779T>C (p.Cys2927Arg) c.5953T>C (n.5953T>C) n.4122T>C n.342-3477T>C c.5977T>C (p.Cys1993Arg) c.8938T>C (p.Cys2980Arg) c.8830T>C (p.Cys2944Arg) c.8812T>C (p.Cys2938Arg) c.5584T>C (p.Cys1862Arg) c.3514T>C (p.Cys1172Arg) c.8887T>C (p.Cys2963Arg) c.8833T>C (p.Cys2945Arg) c.8623T>C (p.Cys2875Arg) c.8269T>C (p.Cys2757Arg) c.6166T>C (p.Cys2056Arg) n.9116T>C c.8752T>C (p.Cys2918Arg) c.7948T>C (p.Cys2650Arg) c.7753T>C (p.Cys2585Arg) n.9165T>C | |
5 | g.37125261A>T | CA359498438 | CPLANE1 | n.1940T>A c.8941T>A (p.Cys2981Ser) n.802T>A c.8779T>A (p.Cys2927Ser) c.5953T>A (n.5953T>A) n.4122T>A n.342-3477T>A c.5977T>A (p.Cys1993Ser) c.8938T>A (p.Cys2980Ser) c.8830T>A (p.Cys2944Ser) c.8812T>A (p.Cys2938Ser) c.5584T>A (p.Cys1862Ser) c.3514T>A (p.Cys1172Ser) c.8887T>A (p.Cys2963Ser) c.8833T>A (p.Cys2945Ser) c.8623T>A (p.Cys2875Ser) c.8269T>A (p.Cys2757Ser) c.6166T>A (p.Cys2056Ser) n.9116T>A c.8752T>A (p.Cys2918Ser) c.7948T>A (p.Cys2650Ser) c.7753T>A (p.Cys2585Ser) n.9165T>A | |
5 | g.37125262del | CA645544871 | CPLANE1 | n.1939del c.8940del (p.Cys2981ValfsTer9) n.801del c.8778del (p.Cys2927ValfsTer9) c.5952del (n.5952del) n.4121del n.342-3478del c.5976del (p.Cys1993ValfsTer9) c.8937del (p.Cys2980ValfsTer9) c.8829del (p.Cys2944ValfsTer9) c.8811del (p.Cys2938ValfsTer9) c.5583del (p.Cys1862ValfsTer9) c.3513del (p.Cys1172ValfsTer9) c.8886del (p.Cys2963ValfsTer9) c.8832del (p.Cys2945ValfsTer9) c.8622del (p.Cys2875ValfsTer9) c.8268del (p.Cys2757ValfsTer9) c.6165del (p.Cys2056ValfsTer9) n.9115del c.8751del (p.Cys2918ValfsTer9) c.7947del (p.Cys2650ValfsTer9) c.7752del (p.Cys2585ValfsTer9) n.9164del | COSMIC COSMIC |
5 | g.37125262G>A | CA443921984 | CPLANE1 | n.1939C>T c.8940C>T (p.Phe2980=) n.801C>T c.8778C>T (p.Phe2926=) c.5952C>T (n.5952C>T) n.4121C>T n.342-3478C>T c.5976C>T (p.Phe1992=) c.8937C>T (p.Phe2979=) c.8829C>T (p.Phe2943=) c.8811C>T (p.Phe2937=) c.5583C>T (p.Phe1861=) c.3513C>T (p.Phe1171=) c.8886C>T (p.Phe2962=) c.8832C>T (p.Phe2944=) c.8622C>T (p.Phe2874=) c.8268C>T (p.Phe2756=) c.6165C>T (p.Phe2055=) n.9115C>T c.8751C>T (p.Phe2917=) c.7947C>T (p.Phe2649=) c.7752C>T (p.Phe2584=) n.9164C>T | |
5 | g.37125262G>C | CA359498440 | CPLANE1 | n.1939C>G c.8940C>G (p.Phe2980Leu) n.801C>G c.8778C>G (p.Phe2926Leu) c.5952C>G (n.5952C>G) n.4121C>G n.342-3478C>G c.5976C>G (p.Phe1992Leu) c.8937C>G (p.Phe2979Leu) c.8829C>G (p.Phe2943Leu) c.8811C>G (p.Phe2937Leu) c.5583C>G (p.Phe1861Leu) c.3513C>G (p.Phe1171Leu) c.8886C>G (p.Phe2962Leu) c.8832C>G (p.Phe2944Leu) c.8622C>G (p.Phe2874Leu) c.8268C>G (p.Phe2756Leu) c.6165C>G (p.Phe2055Leu) n.9115C>G c.8751C>G (p.Phe2917Leu) c.7947C>G (p.Phe2649Leu) c.7752C>G (p.Phe2584Leu) n.9164C>G | |
5 | g.37125262G>T | CA359498462 | CPLANE1 | n.1939C>A c.8940C>A (p.Phe2980Leu) n.801C>A c.8778C>A (p.Phe2926Leu) c.5952C>A (n.5952C>A) n.4121C>A n.342-3478C>A c.5976C>A (p.Phe1992Leu) c.8937C>A (p.Phe2979Leu) c.8829C>A (p.Phe2943Leu) c.8811C>A (p.Phe2937Leu) c.5583C>A (p.Phe1861Leu) c.3513C>A (p.Phe1171Leu) c.8886C>A (p.Phe2962Leu) c.8832C>A (p.Phe2944Leu) c.8622C>A (p.Phe2874Leu) c.8268C>A (p.Phe2756Leu) c.6165C>A (p.Phe2055Leu) n.9115C>A c.8751C>A (p.Phe2917Leu) c.7947C>A (p.Phe2649Leu) c.7752C>A (p.Phe2584Leu) n.9164C>A | |
5 | g.37125263A>C | CA359498467 | CPLANE1 | n.1938T>G c.8939T>G (p.Phe2980Cys) n.800T>G c.8777T>G (p.Phe2926Cys) c.5951T>G (n.5951T>G) n.4120T>G n.342-3479T>G c.5975T>G (p.Phe1992Cys) c.8936T>G (p.Phe2979Cys) c.8828T>G (p.Phe2943Cys) c.8810T>G (p.Phe2937Cys) c.5582T>G (p.Phe1861Cys) c.3512T>G (p.Phe1171Cys) c.8885T>G (p.Phe2962Cys) c.8831T>G (p.Phe2944Cys) c.8621T>G (p.Phe2874Cys) c.8267T>G (p.Phe2756Cys) c.6164T>G (p.Phe2055Cys) n.9114T>G c.8750T>G (p.Phe2917Cys) c.7946T>G (p.Phe2649Cys) c.7751T>G (p.Phe2584Cys) n.9163T>G | |
5 | g.37125263A>G | CA359498468 | CPLANE1 | n.1938T>C c.8939T>C (p.Phe2980Ser) n.800T>C c.8777T>C (p.Phe2926Ser) c.5951T>C (n.5951T>C) n.4120T>C n.342-3479T>C c.5975T>C (p.Phe1992Ser) c.8936T>C (p.Phe2979Ser) c.8828T>C (p.Phe2943Ser) c.8810T>C (p.Phe2937Ser) c.5582T>C (p.Phe1861Ser) c.3512T>C (p.Phe1171Ser) c.8885T>C (p.Phe2962Ser) c.8831T>C (p.Phe2944Ser) c.8621T>C (p.Phe2874Ser) c.8267T>C (p.Phe2756Ser) c.6164T>C (p.Phe2055Ser) n.9114T>C c.8750T>C (p.Phe2917Ser) c.7946T>C (p.Phe2649Ser) c.7751T>C (p.Phe2584Ser) n.9163T>C | |
5 | g.37125263A>T | CA359498469 | CPLANE1 | n.1938T>A c.8939T>A (p.Phe2980Tyr) n.800T>A c.8777T>A (p.Phe2926Tyr) c.5951T>A (n.5951T>A) n.4120T>A n.342-3479T>A c.5975T>A (p.Phe1992Tyr) c.8936T>A (p.Phe2979Tyr) c.8828T>A (p.Phe2943Tyr) c.8810T>A (p.Phe2937Tyr) c.5582T>A (p.Phe1861Tyr) c.3512T>A (p.Phe1171Tyr) c.8885T>A (p.Phe2962Tyr) c.8831T>A (p.Phe2944Tyr) c.8621T>A (p.Phe2874Tyr) c.8267T>A (p.Phe2756Tyr) c.6164T>A (p.Phe2055Tyr) n.9114T>A c.8750T>A (p.Phe2917Tyr) c.7946T>A (p.Phe2649Tyr) c.7751T>A (p.Phe2584Tyr) n.9163T>A | |
5 | g.37125264A>C | CA359498472 | CPLANE1 | n.1937T>G c.8938T>G (p.Phe2980Val) n.799T>G c.8776T>G (p.Phe2926Val) c.5950T>G (n.5950T>G) n.4119T>G n.342-3480T>G c.5974T>G (p.Phe1992Val) c.8935T>G (p.Phe2979Val) c.8827T>G (p.Phe2943Val) c.8809T>G (p.Phe2937Val) c.5581T>G (p.Phe1861Val) c.3511T>G (p.Phe1171Val) c.8884T>G (p.Phe2962Val) c.8830T>G (p.Phe2944Val) c.8620T>G (p.Phe2874Val) c.8266T>G (p.Phe2756Val) c.6163T>G (p.Phe2055Val) n.9113T>G c.8749T>G (p.Phe2917Val) c.7945T>G (p.Phe2649Val) c.7750T>G (p.Phe2584Val) n.9162T>G | gnomAD v4 |
5 | g.37125264A>G | CA359498475 | CPLANE1 | n.1937T>C c.8938T>C (p.Phe2980Leu) n.799T>C c.8776T>C (p.Phe2926Leu) c.5950T>C (n.5950T>C) n.4119T>C n.342-3480T>C c.5974T>C (p.Phe1992Leu) c.8935T>C (p.Phe2979Leu) c.8827T>C (p.Phe2943Leu) c.8809T>C (p.Phe2937Leu) c.5581T>C (p.Phe1861Leu) c.3511T>C (p.Phe1171Leu) c.8884T>C (p.Phe2962Leu) c.8830T>C (p.Phe2944Leu) c.8620T>C (p.Phe2874Leu) c.8266T>C (p.Phe2756Leu) c.6163T>C (p.Phe2055Leu) n.9113T>C c.8749T>C (p.Phe2917Leu) c.7945T>C (p.Phe2649Leu) c.7750T>C (p.Phe2584Leu) n.9162T>C | |
5 | g.37125264A>T | CA359498477 | CPLANE1 | n.1937T>A c.8938T>A (p.Phe2980Ile) n.799T>A c.8776T>A (p.Phe2926Ile) c.5950T>A (n.5950T>A) n.4119T>A n.342-3480T>A c.5974T>A (p.Phe1992Ile) c.8935T>A (p.Phe2979Ile) c.8827T>A (p.Phe2943Ile) c.8809T>A (p.Phe2937Ile) c.5581T>A (p.Phe1861Ile) c.3511T>A (p.Phe1171Ile) c.8884T>A (p.Phe2962Ile) c.8830T>A (p.Phe2944Ile) c.8620T>A (p.Phe2874Ile) c.8266T>A (p.Phe2756Ile) c.6163T>A (p.Phe2055Ile) n.9113T>A c.8749T>A (p.Phe2917Ile) c.7945T>A (p.Phe2649Ile) c.7750T>A (p.Phe2584Ile) n.9162T>A | |
5 | g.37125265A= | CA1539667589 | CPLANE1 | n.1936T= c.8937T= (p.Pro2979=) n.798T= c.8775T= (p.Pro2925=) c.5949T= (n.5949T=) n.4118T= n.342-3481T= c.5973T= (p.Pro1991=) c.8934T= (p.Pro2978=) c.8826T= (p.Pro2942=) c.8808T= (p.Pro2936=) c.5580T= (p.Pro1860=) c.3510T= (p.Pro1170=) c.8883T= (p.Pro2961=) c.8829T= (p.Pro2943=) c.8619T= (p.Pro2873=) c.8265T= (p.Pro2755=) c.6162T= (p.Pro2054=) n.9112T= c.8748T= (p.Pro2916=) c.7944T= (p.Pro2648=) c.7749T= (p.Pro2583=) n.9161T= | |
5 | g.37125265A>C | CA443921987 | CPLANE1 | n.1936T>G c.8937T>G (p.Pro2979=) n.798T>G c.8775T>G (p.Pro2925=) c.5949T>G (n.5949T>G) n.4118T>G n.342-3481T>G c.5973T>G (p.Pro1991=) c.8934T>G (p.Pro2978=) c.8826T>G (p.Pro2942=) c.8808T>G (p.Pro2936=) c.5580T>G (p.Pro1860=) c.3510T>G (p.Pro1170=) c.8883T>G (p.Pro2961=) c.8829T>G (p.Pro2943=) c.8619T>G (p.Pro2873=) c.8265T>G (p.Pro2755=) c.6162T>G (p.Pro2054=) n.9112T>G c.8748T>G (p.Pro2916=) c.7944T>G (p.Pro2648=) c.7749T>G (p.Pro2583=) n.9161T>G | |
5 | g.37125265A>G | CA443921986 | CPLANE1 | n.1936T>C c.8937T>C (p.Pro2979=) n.798T>C c.8775T>C (p.Pro2925=) c.5949T>C (n.5949T>C) n.4118T>C n.342-3481T>C c.5973T>C (p.Pro1991=) c.8934T>C (p.Pro2978=) c.8826T>C (p.Pro2942=) c.8808T>C (p.Pro2936=) c.5580T>C (p.Pro1860=) c.3510T>C (p.Pro1170=) c.8883T>C (p.Pro2961=) c.8829T>C (p.Pro2943=) c.8619T>C (p.Pro2873=) c.8265T>C (p.Pro2755=) c.6162T>C (p.Pro2054=) n.9112T>C c.8748T>C (p.Pro2916=) c.7944T>C (p.Pro2648=) c.7749T>C (p.Pro2583=) n.9161T>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37125265A>T | CA443921985 | CPLANE1 | n.1936T>A c.8937T>A (p.Pro2979=) n.798T>A c.8775T>A (p.Pro2925=) c.5949T>A (n.5949T>A) n.4118T>A n.342-3481T>A c.5973T>A (p.Pro1991=) c.8934T>A (p.Pro2978=) c.8826T>A (p.Pro2942=) c.8808T>A (p.Pro2936=) c.5580T>A (p.Pro1860=) c.3510T>A (p.Pro1170=) c.8883T>A (p.Pro2961=) c.8829T>A (p.Pro2943=) c.8619T>A (p.Pro2873=) c.8265T>A (p.Pro2755=) c.6162T>A (p.Pro2054=) n.9112T>A c.8748T>A (p.Pro2916=) c.7944T>A (p.Pro2648=) c.7749T>A (p.Pro2583=) n.9161T>A | |
5 | g.37125266G>A | CA359498487 | CPLANE1 | n.1935C>T c.8936C>T (p.Pro2979Leu) n.797C>T c.8774C>T (p.Pro2925Leu) c.5948C>T (n.5948C>T) n.4117C>T n.342-3482C>T c.5972C>T (p.Pro1991Leu) c.8933C>T (p.Pro2978Leu) c.8825C>T (p.Pro2942Leu) c.8807C>T (p.Pro2936Leu) c.5579C>T (p.Pro1860Leu) c.3509C>T (p.Pro1170Leu) c.8882C>T (p.Pro2961Leu) c.8828C>T (p.Pro2943Leu) c.8618C>T (p.Pro2873Leu) c.8264C>T (p.Pro2755Leu) c.6161C>T (p.Pro2054Leu) n.9111C>T c.8747C>T (p.Pro2916Leu) c.7943C>T (p.Pro2648Leu) c.7748C>T (p.Pro2583Leu) n.9160C>T | COSMIC COSMIC |
5 | g.37125266G>C | CA359498510 | CPLANE1 | n.1935C>G c.8936C>G (p.Pro2979Arg) n.797C>G c.8774C>G (p.Pro2925Arg) c.5948C>G (n.5948C>G) n.4117C>G n.342-3482C>G c.5972C>G (p.Pro1991Arg) c.8933C>G (p.Pro2978Arg) c.8825C>G (p.Pro2942Arg) c.8807C>G (p.Pro2936Arg) c.5579C>G (p.Pro1860Arg) c.3509C>G (p.Pro1170Arg) c.8882C>G (p.Pro2961Arg) c.8828C>G (p.Pro2943Arg) c.8618C>G (p.Pro2873Arg) c.8264C>G (p.Pro2755Arg) c.6161C>G (p.Pro2054Arg) n.9111C>G c.8747C>G (p.Pro2916Arg) c.7943C>G (p.Pro2648Arg) c.7748C>G (p.Pro2583Arg) n.9160C>G | |
5 | g.37125266G= | CA1539667591 | CPLANE1 | n.1935C= c.8936C= (p.Pro2979=) n.797C= c.8774C= (p.Pro2925=) c.5948C= (n.5948C=) n.4117C= n.342-3482C= c.5972C= (p.Pro1991=) c.8933C= (p.Pro2978=) c.8825C= (p.Pro2942=) c.8807C= (p.Pro2936=) c.5579C= (p.Pro1860=) c.3509C= (p.Pro1170=) c.8882C= (p.Pro2961=) c.8828C= (p.Pro2943=) c.8618C= (p.Pro2873=) c.8264C= (p.Pro2755=) c.6161C= (p.Pro2054=) n.9111C= c.8747C= (p.Pro2916=) c.7943C= (p.Pro2648=) c.7748C= (p.Pro2583=) n.9160C= | |
5 | g.37125266G>T | CA117059131 | CPLANE1 | n.1935C>A c.8936C>A (p.Pro2979His) n.797C>A c.8774C>A (p.Pro2925His) c.5948C>A (n.5948C>A) n.4117C>A n.342-3482C>A c.5972C>A (p.Pro1991His) c.8933C>A (p.Pro2978His) c.8825C>A (p.Pro2942His) c.8807C>A (p.Pro2936His) c.5579C>A (p.Pro1860His) c.3509C>A (p.Pro1170His) c.8882C>A (p.Pro2961His) c.8828C>A (p.Pro2943His) c.8618C>A (p.Pro2873His) c.8264C>A (p.Pro2755His) c.6161C>A (p.Pro2054His) n.9111C>A c.8747C>A (p.Pro2916His) c.7943C>A (p.Pro2648His) c.7748C>A (p.Pro2583His) n.9160C>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37125267G>A | CA359498527 | CPLANE1 | n.1934C>T c.8935C>T (p.Pro2979Ser) n.796C>T c.8773C>T (p.Pro2925Ser) c.5947C>T (n.5947C>T) n.4116C>T n.342-3483C>T c.5971C>T (p.Pro1991Ser) c.8932C>T (p.Pro2978Ser) c.8824C>T (p.Pro2942Ser) c.8806C>T (p.Pro2936Ser) c.5578C>T (p.Pro1860Ser) c.3508C>T (p.Pro1170Ser) c.8881C>T (p.Pro2961Ser) c.8827C>T (p.Pro2943Ser) c.8617C>T (p.Pro2873Ser) c.8263C>T (p.Pro2755Ser) c.6160C>T (p.Pro2054Ser) n.9110C>T c.8746C>T (p.Pro2916Ser) c.7942C>T (p.Pro2648Ser) c.7747C>T (p.Pro2583Ser) n.9159C>T | COSMIC COSMIC |
5 | g.37125267G>C | CA359498553 | CPLANE1 | n.1934C>G c.8935C>G (p.Pro2979Ala) n.796C>G c.8773C>G (p.Pro2925Ala) c.5947C>G (n.5947C>G) n.4116C>G n.342-3483C>G c.5971C>G (p.Pro1991Ala) c.8932C>G (p.Pro2978Ala) c.8824C>G (p.Pro2942Ala) c.8806C>G (p.Pro2936Ala) c.5578C>G (p.Pro1860Ala) c.3508C>G (p.Pro1170Ala) c.8881C>G (p.Pro2961Ala) c.8827C>G (p.Pro2943Ala) c.8617C>G (p.Pro2873Ala) c.8263C>G (p.Pro2755Ala) c.6160C>G (p.Pro2054Ala) n.9110C>G c.8746C>G (p.Pro2916Ala) c.7942C>G (p.Pro2648Ala) c.7747C>G (p.Pro2583Ala) n.9159C>G | |
5 | g.37125267G>T | CA359498539 | CPLANE1 | n.1934C>A c.8935C>A (p.Pro2979Thr) n.796C>A c.8773C>A (p.Pro2925Thr) c.5947C>A (n.5947C>A) n.4116C>A n.342-3483C>A c.5971C>A (p.Pro1991Thr) c.8932C>A (p.Pro2978Thr) c.8824C>A (p.Pro2942Thr) c.8806C>A (p.Pro2936Thr) c.5578C>A (p.Pro1860Thr) c.3508C>A (p.Pro1170Thr) c.8881C>A (p.Pro2961Thr) c.8827C>A (p.Pro2943Thr) c.8617C>A (p.Pro2873Thr) c.8263C>A (p.Pro2755Thr) c.6160C>A (p.Pro2054Thr) n.9110C>A c.8746C>A (p.Pro2916Thr) c.7942C>A (p.Pro2648Thr) c.7747C>A (p.Pro2583Thr) n.9159C>A | |
5 | g.37125268A>C | CA359498561 | CPLANE1 | n.1933T>G c.8934T>G (p.Asp2978Glu) n.795T>G c.8772T>G (p.Asp2924Glu) c.5946T>G (n.5946T>G) n.4115T>G n.342-3484T>G c.5970T>G (p.Asp1990Glu) c.8931T>G (p.Asp2977Glu) c.8823T>G (p.Asp2941Glu) c.8805T>G (p.Asp2935Glu) c.5577T>G (p.Asp1859Glu) c.3507T>G (p.Asp1169Glu) c.8880T>G (p.Asp2960Glu) c.8826T>G (p.Asp2942Glu) c.8616T>G (p.Asp2872Glu) c.8262T>G (p.Asp2754Glu) c.6159T>G (p.Asp2053Glu) n.9109T>G c.8745T>G (p.Asp2915Glu) c.7941T>G (p.Asp2647Glu) c.7746T>G (p.Asp2582Glu) n.9158T>G | |
5 | g.37125268A>G | CA443921988 | CPLANE1 | n.1933T>C c.8934T>C (p.Asp2978=) n.795T>C c.8772T>C (p.Asp2924=) c.5946T>C (n.5946T>C) n.4115T>C n.342-3484T>C c.5970T>C (p.Asp1990=) c.8931T>C (p.Asp2977=) c.8823T>C (p.Asp2941=) c.8805T>C (p.Asp2935=) c.5577T>C (p.Asp1859=) c.3507T>C (p.Asp1169=) c.8880T>C (p.Asp2960=) c.8826T>C (p.Asp2942=) c.8616T>C (p.Asp2872=) c.8262T>C (p.Asp2754=) c.6159T>C (p.Asp2053=) n.9109T>C c.8745T>C (p.Asp2915=) c.7941T>C (p.Asp2647=) c.7746T>C (p.Asp2582=) n.9158T>C | |
5 | g.37125268A>T | CA359498565 | CPLANE1 | n.1933T>A c.8934T>A (p.Asp2978Glu) n.795T>A c.8772T>A (p.Asp2924Glu) c.5946T>A (n.5946T>A) n.4115T>A n.342-3484T>A c.5970T>A (p.Asp1990Glu) c.8931T>A (p.Asp2977Glu) c.8823T>A (p.Asp2941Glu) c.8805T>A (p.Asp2935Glu) c.5577T>A (p.Asp1859Glu) c.3507T>A (p.Asp1169Glu) c.8880T>A (p.Asp2960Glu) c.8826T>A (p.Asp2942Glu) c.8616T>A (p.Asp2872Glu) c.8262T>A (p.Asp2754Glu) c.6159T>A (p.Asp2053Glu) n.9109T>A c.8745T>A (p.Asp2915Glu) c.7941T>A (p.Asp2647Glu) c.7746T>A (p.Asp2582Glu) n.9158T>A | |
5 | g.37125269T>A | CA359498577 | CPLANE1 | n.1932A>T c.8933A>T (p.Asp2978Val) n.794A>T c.8771A>T (p.Asp2924Val) c.5945A>T (n.5945A>T) n.4114A>T n.342-3485A>T c.5969A>T (p.Asp1990Val) c.8930A>T (p.Asp2977Val) c.8822A>T (p.Asp2941Val) c.8804A>T (p.Asp2935Val) c.5576A>T (p.Asp1859Val) c.3506A>T (p.Asp1169Val) c.8879A>T (p.Asp2960Val) c.8825A>T (p.Asp2942Val) c.8615A>T (p.Asp2872Val) c.8261A>T (p.Asp2754Val) c.6158A>T (p.Asp2053Val) n.9108A>T c.8744A>T (p.Asp2915Val) c.7940A>T (p.Asp2647Val) c.7745A>T (p.Asp2582Val) n.9157A>T | |
5 | g.37125269T>C | CA359498581 | CPLANE1 | n.1932A>G c.8933A>G (p.Asp2978Gly) n.794A>G c.8771A>G (p.Asp2924Gly) c.5945A>G (n.5945A>G) n.4114A>G n.342-3485A>G c.5969A>G (p.Asp1990Gly) c.8930A>G (p.Asp2977Gly) c.8822A>G (p.Asp2941Gly) c.8804A>G (p.Asp2935Gly) c.5576A>G (p.Asp1859Gly) c.3506A>G (p.Asp1169Gly) c.8879A>G (p.Asp2960Gly) c.8825A>G (p.Asp2942Gly) c.8615A>G (p.Asp2872Gly) c.8261A>G (p.Asp2754Gly) c.6158A>G (p.Asp2053Gly) n.9108A>G c.8744A>G (p.Asp2915Gly) c.7940A>G (p.Asp2647Gly) c.7745A>G (p.Asp2582Gly) n.9157A>G | |
5 | g.37125269T>G | CA359498582 | CPLANE1 | n.1932A>C c.8933A>C (p.Asp2978Ala) n.794A>C c.8771A>C (p.Asp2924Ala) c.5945A>C (n.5945A>C) n.4114A>C n.342-3485A>C c.5969A>C (p.Asp1990Ala) c.8930A>C (p.Asp2977Ala) c.8822A>C (p.Asp2941Ala) c.8804A>C (p.Asp2935Ala) c.5576A>C (p.Asp1859Ala) c.3506A>C (p.Asp1169Ala) c.8879A>C (p.Asp2960Ala) c.8825A>C (p.Asp2942Ala) c.8615A>C (p.Asp2872Ala) c.8261A>C (p.Asp2754Ala) c.6158A>C (p.Asp2053Ala) n.9108A>C c.8744A>C (p.Asp2915Ala) c.7940A>C (p.Asp2647Ala) c.7745A>C (p.Asp2582Ala) n.9157A>C | |
5 | g.37125270C>A | CA359498583 | CPLANE1 | n.1931G>T c.8932G>T (p.Asp2978Tyr) n.793G>T c.8770G>T (p.Asp2924Tyr) c.5944G>T (n.5944G>T) n.4113G>T n.342-3486G>T c.5968G>T (p.Asp1990Tyr) c.8929G>T (p.Asp2977Tyr) c.8821G>T (p.Asp2941Tyr) c.8803G>T (p.Asp2935Tyr) c.5575G>T (p.Asp1859Tyr) c.3505G>T (p.Asp1169Tyr) c.8878G>T (p.Asp2960Tyr) c.8824G>T (p.Asp2942Tyr) c.8614G>T (p.Asp2872Tyr) c.8260G>T (p.Asp2754Tyr) c.6157G>T (p.Asp2053Tyr) n.9107G>T c.8743G>T (p.Asp2915Tyr) c.7939G>T (p.Asp2647Tyr) c.7744G>T (p.Asp2582Tyr) n.9156G>T | |
5 | g.37125270C= | CA1539667593 | CPLANE1 | n.1931G= c.8932G= (p.Asp2978=) n.793G= c.8770G= (p.Asp2924=) c.5944G= (n.5944G=) n.4113G= n.342-3486G= c.5968G= (p.Asp1990=) c.8929G= (p.Asp2977=) c.8821G= (p.Asp2941=) c.8803G= (p.Asp2935=) c.5575G= (p.Asp1859=) c.3505G= (p.Asp1169=) c.8878G= (p.Asp2960=) c.8824G= (p.Asp2942=) c.8614G= (p.Asp2872=) c.8260G= (p.Asp2754=) c.6157G= (p.Asp2053=) n.9107G= c.8743G= (p.Asp2915=) c.7939G= (p.Asp2647=) c.7744G= (p.Asp2582=) n.9156G= | |
5 | g.37125270C>G | CA359498584 | CPLANE1 | n.1931G>C c.8932G>C (p.Asp2978His) n.793G>C c.8770G>C (p.Asp2924His) c.5944G>C (n.5944G>C) n.4113G>C n.342-3486G>C c.5968G>C (p.Asp1990His) c.8929G>C (p.Asp2977His) c.8821G>C (p.Asp2941His) c.8803G>C (p.Asp2935His) c.5575G>C (p.Asp1859His) c.3505G>C (p.Asp1169His) c.8878G>C (p.Asp2960His) c.8824G>C (p.Asp2942His) c.8614G>C (p.Asp2872His) c.8260G>C (p.Asp2754His) c.6157G>C (p.Asp2053His) n.9107G>C c.8743G>C (p.Asp2915His) c.7939G>C (p.Asp2647His) c.7744G>C (p.Asp2582His) n.9156G>C | |
5 | g.37125270C>T | CA117059132 | CPLANE1 | n.1931G>A c.8932G>A (p.Asp2978Asn) n.793G>A c.8770G>A (p.Asp2924Asn) c.5944G>A (n.5944G>A) n.4113G>A n.342-3486G>A c.5968G>A (p.Asp1990Asn) c.8929G>A (p.Asp2977Asn) c.8821G>A (p.Asp2941Asn) c.8803G>A (p.Asp2935Asn) c.5575G>A (p.Asp1859Asn) c.3505G>A (p.Asp1169Asn) c.8878G>A (p.Asp2960Asn) c.8824G>A (p.Asp2942Asn) c.8614G>A (p.Asp2872Asn) c.8260G>A (p.Asp2754Asn) c.6157G>A (p.Asp2053Asn) n.9107G>A c.8743G>A (p.Asp2915Asn) c.7939G>A (p.Asp2647Asn) c.7744G>A (p.Asp2582Asn) n.9156G>A | dbSNP gnomAD v4 |
5 | g.37125271A= | CA1539667595 | CPLANE1 | n.1930T= c.8931T= (p.His2977=) n.792T= c.8769T= (p.His2923=) c.5943T= (n.5943T=) n.4112T= n.342-3487T= c.5967T= (p.His1989=) c.8928T= (p.His2976=) c.8820T= (p.His2940=) c.8802T= (p.His2934=) c.5574T= (p.His1858=) c.3504T= (p.His1168=) c.8877T= (p.His2959=) c.8823T= (p.His2941=) c.8613T= (p.His2871=) c.8259T= (p.His2753=) c.6156T= (p.His2052=) n.9106T= c.8742T= (p.His2914=) c.7938T= (p.His2646=) c.7743T= (p.His2581=) n.9155T= | |
5 | g.37125271A>C | CA359498585 | CPLANE1 | n.1930T>G c.8931T>G (p.His2977Gln) n.792T>G c.8769T>G (p.His2923Gln) c.5943T>G (n.5943T>G) n.4112T>G n.342-3487T>G c.5967T>G (p.His1989Gln) c.8928T>G (p.His2976Gln) c.8820T>G (p.His2940Gln) c.8802T>G (p.His2934Gln) c.5574T>G (p.His1858Gln) c.3504T>G (p.His1168Gln) c.8877T>G (p.His2959Gln) c.8823T>G (p.His2941Gln) c.8613T>G (p.His2871Gln) c.8259T>G (p.His2753Gln) c.6156T>G (p.His2052Gln) n.9106T>G c.8742T>G (p.His2914Gln) c.7938T>G (p.His2646Gln) c.7743T>G (p.His2581Gln) n.9155T>G | |
5 | g.37125271A>G | CA443921989 | CPLANE1 | n.1930T>C c.8931T>C (p.His2977=) n.792T>C c.8769T>C (p.His2923=) c.5943T>C (n.5943T>C) n.4112T>C n.342-3487T>C c.5967T>C (p.His1989=) c.8928T>C (p.His2976=) c.8820T>C (p.His2940=) c.8802T>C (p.His2934=) c.5574T>C (p.His1858=) c.3504T>C (p.His1168=) c.8877T>C (p.His2959=) c.8823T>C (p.His2941=) c.8613T>C (p.His2871=) c.8259T>C (p.His2753=) c.6156T>C (p.His2052=) n.9106T>C c.8742T>C (p.His2914=) c.7938T>C (p.His2646=) c.7743T>C (p.His2581=) n.9155T>C | dbSNP gnomAD v4 |
5 | g.37125271A>T | CA359498587 | CPLANE1 | n.1930T>A c.8931T>A (p.His2977Gln) n.792T>A c.8769T>A (p.His2923Gln) c.5943T>A (n.5943T>A) n.4112T>A n.342-3487T>A c.5967T>A (p.His1989Gln) c.8928T>A (p.His2976Gln) c.8820T>A (p.His2940Gln) c.8802T>A (p.His2934Gln) c.5574T>A (p.His1858Gln) c.3504T>A (p.His1168Gln) c.8877T>A (p.His2959Gln) c.8823T>A (p.His2941Gln) c.8613T>A (p.His2871Gln) c.8259T>A (p.His2753Gln) c.6156T>A (p.His2052Gln) n.9106T>A c.8742T>A (p.His2914Gln) c.7938T>A (p.His2646Gln) c.7743T>A (p.His2581Gln) n.9155T>A | |
5 | g.37125272T>A | CA359498600 | CPLANE1 | n.1929A>T c.8930A>T (p.His2977Leu) n.791A>T c.8768A>T (p.His2923Leu) c.5942A>T (n.5942A>T) n.4111A>T n.342-3488A>T c.5966A>T (p.His1989Leu) c.8927A>T (p.His2976Leu) c.8819A>T (p.His2940Leu) c.8801A>T (p.His2934Leu) c.5573A>T (p.His1858Leu) c.3503A>T (p.His1168Leu) c.8876A>T (p.His2959Leu) c.8822A>T (p.His2941Leu) c.8612A>T (p.His2871Leu) c.8258A>T (p.His2753Leu) c.6155A>T (p.His2052Leu) n.9105A>T c.8741A>T (p.His2914Leu) c.7937A>T (p.His2646Leu) c.7742A>T (p.His2581Leu) n.9154A>T | |
5 | g.37125272T>C | CA3237628 | CPLANE1 | n.1929A>G c.8930A>G (p.His2977Arg) n.791A>G c.8768A>G (p.His2923Arg) c.5942A>G (n.5942A>G) n.4111A>G n.342-3488A>G c.5966A>G (p.His1989Arg) c.8927A>G (p.His2976Arg) c.8819A>G (p.His2940Arg) c.8801A>G (p.His2934Arg) c.5573A>G (p.His1858Arg) c.3503A>G (p.His1168Arg) c.8876A>G (p.His2959Arg) c.8822A>G (p.His2941Arg) c.8612A>G (p.His2871Arg) c.8258A>G (p.His2753Arg) c.6155A>G (p.His2052Arg) n.9105A>G c.8741A>G (p.His2914Arg) c.7937A>G (p.His2646Arg) c.7742A>G (p.His2581Arg) n.9154A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37125272T>G | CA359498590 | CPLANE1 | n.1929A>C c.8930A>C (p.His2977Pro) n.791A>C c.8768A>C (p.His2923Pro) c.5942A>C (n.5942A>C) n.4111A>C n.342-3488A>C c.5966A>C (p.His1989Pro) c.8927A>C (p.His2976Pro) c.8819A>C (p.His2940Pro) c.8801A>C (p.His2934Pro) c.5573A>C (p.His1858Pro) c.3503A>C (p.His1168Pro) c.8876A>C (p.His2959Pro) c.8822A>C (p.His2941Pro) c.8612A>C (p.His2871Pro) c.8258A>C (p.His2753Pro) c.6155A>C (p.His2052Pro) n.9105A>C c.8741A>C (p.His2914Pro) c.7937A>C (p.His2646Pro) c.7742A>C (p.His2581Pro) n.9154A>C | |
5 | g.37125272T= | CA1539667597 | CPLANE1 | n.1929A= c.8930A= (p.His2977=) n.791A= c.8768A= (p.His2923=) c.5942A= (n.5942A=) n.4111A= n.342-3488A= c.5966A= (p.His1989=) c.8927A= (p.His2976=) c.8819A= (p.His2940=) c.8801A= (p.His2934=) c.5573A= (p.His1858=) c.3503A= (p.His1168=) c.8876A= (p.His2959=) c.8822A= (p.His2941=) c.8612A= (p.His2871=) c.8258A= (p.His2753=) c.6155A= (p.His2052=) n.9105A= c.8741A= (p.His2914=) c.7937A= (p.His2646=) c.7742A= (p.His2581=) n.9154A= | |
5 | g.37125273_37125277del | CA2673580097 | CPLANE1 | n.1925_1929del c.8926_8930del (p.Glu2976Ter) n.787_791del c.8764_8768del (p.Glu2922Ter) c.5938_5942del (n.5938_5942del) n.4107_4111del n.342-3492_342-3488del c.5962_5966del (p.Glu1988Ter) c.8923_8927del (p.Glu2975Ter) c.8815_8819del (p.Glu2939Ter) c.8797_8801del (p.Glu2933Ter) c.5569_5573del (p.Glu1857Ter) c.3499_3503del (p.Glu1167Ter) c.8872_8876del (p.Glu2958Ter) c.8818_8822del (p.Glu2940Ter) c.8608_8612del (p.Glu2870Ter) c.8254_8258del (p.Glu2752Ter) c.6151_6155del (p.Glu2051Ter) n.9101_9105del c.8737_8741del (p.Glu2913Ter) c.7933_7937del (p.Glu2645Ter) c.7738_7742del (p.Glu2580Ter) n.9150_9154del | gnomAD v4 |
5 | g.37125273G>A | CA3237629 | CPLANE1 | n.1928C>T c.8929C>T (p.His2977Tyr) n.790C>T c.8767C>T (p.His2923Tyr) c.5941C>T (n.5941C>T) n.4110C>T n.342-3489C>T c.5965C>T (p.His1989Tyr) c.8926C>T (p.His2976Tyr) c.8818C>T (p.His2940Tyr) c.8800C>T (p.His2934Tyr) c.5572C>T (p.His1858Tyr) c.3502C>T (p.His1168Tyr) c.8875C>T (p.His2959Tyr) c.8821C>T (p.His2941Tyr) c.8611C>T (p.His2871Tyr) c.8257C>T (p.His2753Tyr) c.6154C>T (p.His2052Tyr) n.9104C>T c.8740C>T (p.His2914Tyr) c.7936C>T (p.His2646Tyr) c.7741C>T (p.His2581Tyr) n.9153C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37125273G>C | CA359498607 | CPLANE1 | n.1928C>G c.8929C>G (p.His2977Asp) n.790C>G c.8767C>G (p.His2923Asp) c.5941C>G (n.5941C>G) n.4110C>G n.342-3489C>G c.5965C>G (p.His1989Asp) c.8926C>G (p.His2976Asp) c.8818C>G (p.His2940Asp) c.8800C>G (p.His2934Asp) c.5572C>G (p.His1858Asp) c.3502C>G (p.His1168Asp) c.8875C>G (p.His2959Asp) c.8821C>G (p.His2941Asp) c.8611C>G (p.His2871Asp) c.8257C>G (p.His2753Asp) c.6154C>G (p.His2052Asp) n.9104C>G c.8740C>G (p.His2914Asp) c.7936C>G (p.His2646Asp) c.7741C>G (p.His2581Asp) n.9153C>G | |
5 | g.37125273G= | CA1539667599 | CPLANE1 | n.1928C= c.8929C= (p.His2977=) n.790C= c.8767C= (p.His2923=) c.5941C= (n.5941C=) n.4110C= n.342-3489C= c.5965C= (p.His1989=) c.8926C= (p.His2976=) c.8818C= (p.His2940=) c.8800C= (p.His2934=) c.5572C= (p.His1858=) c.3502C= (p.His1168=) c.8875C= (p.His2959=) c.8821C= (p.His2941=) c.8611C= (p.His2871=) c.8257C= (p.His2753=) c.6154C= (p.His2052=) n.9104C= c.8740C= (p.His2914=) c.7936C= (p.His2646=) c.7741C= (p.His2581=) n.9153C= | |
5 | g.37125273G>T | CA359498609 | CPLANE1 | n.1928C>A c.8929C>A (p.His2977Asn) n.790C>A c.8767C>A (p.His2923Asn) c.5941C>A (n.5941C>A) n.4110C>A n.342-3489C>A c.5965C>A (p.His1989Asn) c.8926C>A (p.His2976Asn) c.8818C>A (p.His2940Asn) c.8800C>A (p.His2934Asn) c.5572C>A (p.His1858Asn) c.3502C>A (p.His1168Asn) c.8875C>A (p.His2959Asn) c.8821C>A (p.His2941Asn) c.8611C>A (p.His2871Asn) c.8257C>A (p.His2753Asn) c.6154C>A (p.His2052Asn) n.9104C>A c.8740C>A (p.His2914Asn) c.7936C>A (p.His2646Asn) c.7741C>A (p.His2581Asn) n.9153C>A | |
5 | g.37125274T>A | CA359498612 | CPLANE1 | n.1927A>T c.8928A>T (p.Glu2976Asp) n.789A>T c.8766A>T (p.Glu2922Asp) c.5940A>T (n.5940A>T) n.4109A>T n.342-3490A>T c.5964A>T (p.Glu1988Asp) c.8925A>T (p.Glu2975Asp) c.8817A>T (p.Glu2939Asp) c.8799A>T (p.Glu2933Asp) c.5571A>T (p.Glu1857Asp) c.3501A>T (p.Glu1167Asp) c.8874A>T (p.Glu2958Asp) c.8820A>T (p.Glu2940Asp) c.8610A>T (p.Glu2870Asp) c.8256A>T (p.Glu2752Asp) c.6153A>T (p.Glu2051Asp) n.9103A>T c.8739A>T (p.Glu2913Asp) c.7935A>T (p.Glu2645Asp) c.7740A>T (p.Glu2580Asp) n.9152A>T | |
5 | g.37125274T>C | CA3237630 | CPLANE1 | n.1927A>G c.8928A>G (p.Glu2976=) n.789A>G c.8766A>G (p.Glu2922=) c.5940A>G (n.5940A>G) n.4109A>G n.342-3490A>G c.5964A>G (p.Glu1988=) c.8925A>G (p.Glu2975=) c.8817A>G (p.Glu2939=) c.8799A>G (p.Glu2933=) c.5571A>G (p.Glu1857=) c.3501A>G (p.Glu1167=) c.8874A>G (p.Glu2958=) c.8820A>G (p.Glu2940=) c.8610A>G (p.Glu2870=) c.8256A>G (p.Glu2752=) c.6153A>G (p.Glu2051=) n.9103A>G c.8739A>G (p.Glu2913=) c.7935A>G (p.Glu2645=) c.7740A>G (p.Glu2580=) n.9152A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37125274T>G | CA359498615 | CPLANE1 | n.1927A>C c.8928A>C (p.Glu2976Asp) n.789A>C c.8766A>C (p.Glu2922Asp) c.5940A>C (n.5940A>C) n.4109A>C n.342-3490A>C c.5964A>C (p.Glu1988Asp) c.8925A>C (p.Glu2975Asp) c.8817A>C (p.Glu2939Asp) c.8799A>C (p.Glu2933Asp) c.5571A>C (p.Glu1857Asp) c.3501A>C (p.Glu1167Asp) c.8874A>C (p.Glu2958Asp) c.8820A>C (p.Glu2940Asp) c.8610A>C (p.Glu2870Asp) c.8256A>C (p.Glu2752Asp) c.6153A>C (p.Glu2051Asp) n.9103A>C c.8739A>C (p.Glu2913Asp) c.7935A>C (p.Glu2645Asp) c.7740A>C (p.Glu2580Asp) n.9152A>C | |
5 | g.37125274T= | CA1539667601 | CPLANE1 | n.1927A= c.8928A= (p.Glu2976=) n.789A= c.8766A= (p.Glu2922=) c.5940A= (n.5940A=) n.4109A= n.342-3490A= c.5964A= (p.Glu1988=) c.8925A= (p.Glu2975=) c.8817A= (p.Glu2939=) c.8799A= (p.Glu2933=) c.5571A= (p.Glu1857=) c.3501A= (p.Glu1167=) c.8874A= (p.Glu2958=) c.8820A= (p.Glu2940=) c.8610A= (p.Glu2870=) c.8256A= (p.Glu2752=) c.6153A= (p.Glu2051=) n.9103A= c.8739A= (p.Glu2913=) c.7935A= (p.Glu2645=) c.7740A= (p.Glu2580=) n.9152A= | |
5 | g.37125275T>A | CA359498621 | CPLANE1 | n.1926A>T c.8927A>T (p.Glu2976Val) n.788A>T c.8765A>T (p.Glu2922Val) c.5939A>T (n.5939A>T) n.4108A>T n.342-3491A>T c.5963A>T (p.Glu1988Val) c.8924A>T (p.Glu2975Val) c.8816A>T (p.Glu2939Val) c.8798A>T (p.Glu2933Val) c.5570A>T (p.Glu1857Val) c.3500A>T (p.Glu1167Val) c.8873A>T (p.Glu2958Val) c.8819A>T (p.Glu2940Val) c.8609A>T (p.Glu2870Val) c.8255A>T (p.Glu2752Val) c.6152A>T (p.Glu2051Val) n.9102A>T c.8738A>T (p.Glu2913Val) c.7934A>T (p.Glu2645Val) c.7739A>T (p.Glu2580Val) n.9151A>T | |
5 | g.37125275T>C | CA359498622 | CPLANE1 | n.1926A>G c.8927A>G (p.Glu2976Gly) n.788A>G c.8765A>G (p.Glu2922Gly) c.5939A>G (n.5939A>G) n.4108A>G n.342-3491A>G c.5963A>G (p.Glu1988Gly) c.8924A>G (p.Glu2975Gly) c.8816A>G (p.Glu2939Gly) c.8798A>G (p.Glu2933Gly) c.5570A>G (p.Glu1857Gly) c.3500A>G (p.Glu1167Gly) c.8873A>G (p.Glu2958Gly) c.8819A>G (p.Glu2940Gly) c.8609A>G (p.Glu2870Gly) c.8255A>G (p.Glu2752Gly) c.6152A>G (p.Glu2051Gly) n.9102A>G c.8738A>G (p.Glu2913Gly) c.7934A>G (p.Glu2645Gly) c.7739A>G (p.Glu2580Gly) n.9151A>G | |
5 | g.37125275T>G | CA359498623 | CPLANE1 | n.1926A>C c.8927A>C (p.Glu2976Ala) n.788A>C c.8765A>C (p.Glu2922Ala) c.5939A>C (n.5939A>C) n.4108A>C n.342-3491A>C c.5963A>C (p.Glu1988Ala) c.8924A>C (p.Glu2975Ala) c.8816A>C (p.Glu2939Ala) c.8798A>C (p.Glu2933Ala) c.5570A>C (p.Glu1857Ala) c.3500A>C (p.Glu1167Ala) c.8873A>C (p.Glu2958Ala) c.8819A>C (p.Glu2940Ala) c.8609A>C (p.Glu2870Ala) c.8255A>C (p.Glu2752Ala) c.6152A>C (p.Glu2051Ala) n.9102A>C c.8738A>C (p.Glu2913Ala) c.7934A>C (p.Glu2645Ala) c.7739A>C (p.Glu2580Ala) n.9151A>C | |
5 | g.37125276C>A | CA359498625 | CPLANE1 | n.1925G>T c.8926G>T (p.Glu2976Ter) n.787G>T c.8764G>T (p.Glu2922Ter) c.5938G>T (n.5938G>T) n.4107G>T n.342-3492G>T c.5962G>T (p.Glu1988Ter) c.8923G>T (p.Glu2975Ter) c.8815G>T (p.Glu2939Ter) c.8797G>T (p.Glu2933Ter) c.5569G>T (p.Glu1857Ter) c.3499G>T (p.Glu1167Ter) c.8872G>T (p.Glu2958Ter) c.8818G>T (p.Glu2940Ter) c.8608G>T (p.Glu2870Ter) c.8254G>T (p.Glu2752Ter) c.6151G>T (p.Glu2051Ter) n.9101G>T c.8737G>T (p.Glu2913Ter) c.7933G>T (p.Glu2645Ter) c.7738G>T (p.Glu2580Ter) n.9150G>T | |
5 | g.37125276C= | CA1539667604 | CPLANE1 | n.1925G= c.8926G= (p.Glu2976=) n.787G= c.8764G= (p.Glu2922=) c.5938G= (n.5938G=) n.4107G= n.342-3492G= c.5962G= (p.Glu1988=) c.8923G= (p.Glu2975=) c.8815G= (p.Glu2939=) c.8797G= (p.Glu2933=) c.5569G= (p.Glu1857=) c.3499G= (p.Glu1167=) c.8872G= (p.Glu2958=) c.8818G= (p.Glu2940=) c.8608G= (p.Glu2870=) c.8254G= (p.Glu2752=) c.6151G= (p.Glu2051=) n.9101G= c.8737G= (p.Glu2913=) c.7933G= (p.Glu2645=) c.7738G= (p.Glu2580=) n.9150G= | |
5 | g.37125276C>G | CA359498629 | CPLANE1 | n.1925G>C c.8926G>C (p.Glu2976Gln) n.787G>C c.8764G>C (p.Glu2922Gln) c.5938G>C (n.5938G>C) n.4107G>C n.342-3492G>C c.5962G>C (p.Glu1988Gln) c.8923G>C (p.Glu2975Gln) c.8815G>C (p.Glu2939Gln) c.8797G>C (p.Glu2933Gln) c.5569G>C (p.Glu1857Gln) c.3499G>C (p.Glu1167Gln) c.8872G>C (p.Glu2958Gln) c.8818G>C (p.Glu2940Gln) c.8608G>C (p.Glu2870Gln) c.8254G>C (p.Glu2752Gln) c.6151G>C (p.Glu2051Gln) n.9101G>C c.8737G>C (p.Glu2913Gln) c.7933G>C (p.Glu2645Gln) c.7738G>C (p.Glu2580Gln) n.9150G>C | |
5 | g.37125276C>T | CA359498634 | CPLANE1 | n.1925G>A c.8926G>A (p.Glu2976Lys) n.787G>A c.8764G>A (p.Glu2922Lys) c.5938G>A (n.5938G>A) n.4107G>A n.342-3492G>A c.5962G>A (p.Glu1988Lys) c.8923G>A (p.Glu2975Lys) c.8815G>A (p.Glu2939Lys) c.8797G>A (p.Glu2933Lys) c.5569G>A (p.Glu1857Lys) c.3499G>A (p.Glu1167Lys) c.8872G>A (p.Glu2958Lys) c.8818G>A (p.Glu2940Lys) c.8608G>A (p.Glu2870Lys) c.8254G>A (p.Glu2752Lys) c.6151G>A (p.Glu2051Lys) n.9101G>A c.8737G>A (p.Glu2913Lys) c.7933G>A (p.Glu2645Lys) c.7738G>A (p.Glu2580Lys) n.9150G>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37125277T>A | CA359498641 | CPLANE1 | n.1924A>T c.8925A>T (p.Gln2975His) n.786A>T c.8763A>T (p.Gln2921His) c.5937A>T (n.5937A>T) n.4106A>T n.342-3493A>T c.5961A>T (p.Gln1987His) c.8922A>T (p.Gln2974His) c.8814A>T (p.Gln2938His) c.8796A>T (p.Gln2932His) c.5568A>T (p.Gln1856His) c.3498A>T (p.Gln1166His) c.8871A>T (p.Gln2957His) c.8817A>T (p.Gln2939His) c.8607A>T (p.Gln2869His) c.8253A>T (p.Gln2751His) c.6150A>T (p.Gln2050His) n.9100A>T c.8736A>T (p.Gln2912His) c.7932A>T (p.Gln2644His) c.7737A>T (p.Gln2579His) n.9149A>T | |
5 | g.37125277T>C | CA443921990 | CPLANE1 | n.1924A>G c.8925A>G (p.Gln2975=) n.786A>G c.8763A>G (p.Gln2921=) c.5937A>G (n.5937A>G) n.4106A>G n.342-3493A>G c.5961A>G (p.Gln1987=) c.8922A>G (p.Gln2974=) c.8814A>G (p.Gln2938=) c.8796A>G (p.Gln2932=) c.5568A>G (p.Gln1856=) c.3498A>G (p.Gln1166=) c.8871A>G (p.Gln2957=) c.8817A>G (p.Gln2939=) c.8607A>G (p.Gln2869=) c.8253A>G (p.Gln2751=) c.6150A>G (p.Gln2050=) n.9100A>G c.8736A>G (p.Gln2912=) c.7932A>G (p.Gln2644=) c.7737A>G (p.Gln2579=) n.9149A>G | |
5 | g.37125277T>G | CA359498638 | CPLANE1 | n.1924A>C c.8925A>C (p.Gln2975His) n.786A>C c.8763A>C (p.Gln2921His) c.5937A>C (n.5937A>C) n.4106A>C n.342-3493A>C c.5961A>C (p.Gln1987His) c.8922A>C (p.Gln2974His) c.8814A>C (p.Gln2938His) c.8796A>C (p.Gln2932His) c.5568A>C (p.Gln1856His) c.3498A>C (p.Gln1166His) c.8871A>C (p.Gln2957His) c.8817A>C (p.Gln2939His) c.8607A>C (p.Gln2869His) c.8253A>C (p.Gln2751His) c.6150A>C (p.Gln2050His) n.9100A>C c.8736A>C (p.Gln2912His) c.7932A>C (p.Gln2644His) c.7737A>C (p.Gln2579His) n.9149A>C | |
5 | g.37125278T>A | CA359498642 | CPLANE1 | n.1923A>T c.8924A>T (p.Gln2975Leu) n.785A>T c.8762A>T (p.Gln2921Leu) c.5936A>T (n.5936A>T) n.4105A>T n.342-3494A>T c.5960A>T (p.Gln1987Leu) c.8921A>T (p.Gln2974Leu) c.8813A>T (p.Gln2938Leu) c.8795A>T (p.Gln2932Leu) c.5567A>T (p.Gln1856Leu) c.3497A>T (p.Gln1166Leu) c.8870A>T (p.Gln2957Leu) c.8816A>T (p.Gln2939Leu) c.8606A>T (p.Gln2869Leu) c.8252A>T (p.Gln2751Leu) c.6149A>T (p.Gln2050Leu) n.9099A>T c.8735A>T (p.Gln2912Leu) c.7931A>T (p.Gln2644Leu) c.7736A>T (p.Gln2579Leu) n.9148A>T | |
5 | g.37125278T>C | CA117059156 | CPLANE1 | n.1923A>G c.8924A>G (p.Gln2975Arg) n.785A>G c.8762A>G (p.Gln2921Arg) c.5936A>G (n.5936A>G) n.4105A>G n.342-3494A>G c.5960A>G (p.Gln1987Arg) c.8921A>G (p.Gln2974Arg) c.8813A>G (p.Gln2938Arg) c.8795A>G (p.Gln2932Arg) c.5567A>G (p.Gln1856Arg) c.3497A>G (p.Gln1166Arg) c.8870A>G (p.Gln2957Arg) c.8816A>G (p.Gln2939Arg) c.8606A>G (p.Gln2869Arg) c.8252A>G (p.Gln2751Arg) c.6149A>G (p.Gln2050Arg) n.9099A>G c.8735A>G (p.Gln2912Arg) c.7931A>G (p.Gln2644Arg) c.7736A>G (p.Gln2579Arg) n.9148A>G | ClinVar dbSNP gnomAD v4 |
5 | g.37125278T>G | CA359498648 | CPLANE1 | n.1923A>C c.8924A>C (p.Gln2975Pro) n.785A>C c.8762A>C (p.Gln2921Pro) c.5936A>C (n.5936A>C) n.4105A>C n.342-3494A>C c.5960A>C (p.Gln1987Pro) c.8921A>C (p.Gln2974Pro) c.8813A>C (p.Gln2938Pro) c.8795A>C (p.Gln2932Pro) c.5567A>C (p.Gln1856Pro) c.3497A>C (p.Gln1166Pro) c.8870A>C (p.Gln2957Pro) c.8816A>C (p.Gln2939Pro) c.8606A>C (p.Gln2869Pro) c.8252A>C (p.Gln2751Pro) c.6149A>C (p.Gln2050Pro) n.9099A>C c.8735A>C (p.Gln2912Pro) c.7931A>C (p.Gln2644Pro) c.7736A>C (p.Gln2579Pro) n.9148A>C | |
5 | g.37125278T= | CA1539667605 | CPLANE1 | n.1923A= c.8924A= (p.Gln2975=) n.785A= c.8762A= (p.Gln2921=) c.5936A= (n.5936A=) n.4105A= n.342-3494A= c.5960A= (p.Gln1987=) c.8921A= (p.Gln2974=) c.8813A= (p.Gln2938=) c.8795A= (p.Gln2932=) c.5567A= (p.Gln1856=) c.3497A= (p.Gln1166=) c.8870A= (p.Gln2957=) c.8816A= (p.Gln2939=) c.8606A= (p.Gln2869=) c.8252A= (p.Gln2751=) c.6149A= (p.Gln2050=) n.9099A= c.8735A= (p.Gln2912=) c.7931A= (p.Gln2644=) c.7736A= (p.Gln2579=) n.9148A= | |
5 | g.37125279G>A | CA359498651 | CPLANE1 | n.1922C>T c.8923C>T (p.Gln2975Ter) n.784C>T c.8761C>T (p.Gln2921Ter) c.5935C>T (n.5935C>T) n.4104C>T n.342-3495C>T c.5959C>T (p.Gln1987Ter) c.8920C>T (p.Gln2974Ter) c.8812C>T (p.Gln2938Ter) c.8794C>T (p.Gln2932Ter) c.5566C>T (p.Gln1856Ter) c.3496C>T (p.Gln1166Ter) c.8869C>T (p.Gln2957Ter) c.8815C>T (p.Gln2939Ter) c.8605C>T (p.Gln2869Ter) c.8251C>T (p.Gln2751Ter) c.6148C>T (p.Gln2050Ter) n.9098C>T c.8734C>T (p.Gln2912Ter) c.7930C>T (p.Gln2644Ter) c.7735C>T (p.Gln2579Ter) n.9147C>T | |
5 | g.37125279G>C | CA359498656 | CPLANE1 | n.1922C>G c.8923C>G (p.Gln2975Glu) n.784C>G c.8761C>G (p.Gln2921Glu) c.5935C>G (n.5935C>G) n.4104C>G n.342-3495C>G c.5959C>G (p.Gln1987Glu) c.8920C>G (p.Gln2974Glu) c.8812C>G (p.Gln2938Glu) c.8794C>G (p.Gln2932Glu) c.5566C>G (p.Gln1856Glu) c.3496C>G (p.Gln1166Glu) c.8869C>G (p.Gln2957Glu) c.8815C>G (p.Gln2939Glu) c.8605C>G (p.Gln2869Glu) c.8251C>G (p.Gln2751Glu) c.6148C>G (p.Gln2050Glu) n.9098C>G c.8734C>G (p.Gln2912Glu) c.7930C>G (p.Gln2644Glu) c.7735C>G (p.Gln2579Glu) n.9147C>G | |
5 | g.37125279G>T | CA359498662 | CPLANE1 | n.1922C>A c.8923C>A (p.Gln2975Lys) n.784C>A c.8761C>A (p.Gln2921Lys) c.5935C>A (n.5935C>A) n.4104C>A n.342-3495C>A c.5959C>A (p.Gln1987Lys) c.8920C>A (p.Gln2974Lys) c.8812C>A (p.Gln2938Lys) c.8794C>A (p.Gln2932Lys) c.5566C>A (p.Gln1856Lys) c.3496C>A (p.Gln1166Lys) c.8869C>A (p.Gln2957Lys) c.8815C>A (p.Gln2939Lys) c.8605C>A (p.Gln2869Lys) c.8251C>A (p.Gln2751Lys) c.6148C>A (p.Gln2050Lys) n.9098C>A c.8734C>A (p.Gln2912Lys) c.7930C>A (p.Gln2644Lys) c.7735C>A (p.Gln2579Lys) n.9147C>A | |
5 | g.37125280C>A | CA3237631 | CPLANE1 | n.1921G>T c.8922G>T (p.Gly2974=) n.783G>T c.8760G>T (p.Gly2920=) c.5934G>T (n.5934G>T) n.4103G>T n.342-3496G>T c.5958G>T (p.Gly1986=) c.8919G>T (p.Gly2973=) c.8811G>T (p.Gly2937=) c.8793G>T (p.Gly2931=) c.5565G>T (p.Gly1855=) c.3495G>T (p.Gly1165=) c.8868G>T (p.Gly2956=) c.8814G>T (p.Gly2938=) c.8604G>T (p.Gly2868=) c.8250G>T (p.Gly2750=) c.6147G>T (p.Gly2049=) n.9097G>T c.8733G>T (p.Gly2911=) c.7929G>T (p.Gly2643=) c.7734G>T (p.Gly2578=) n.9146G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.37125280C= | CA1539667607 | CPLANE1 | n.1921G= c.8922G= (p.Gly2974=) n.783G= c.8760G= (p.Gly2920=) c.5934G= (n.5934G=) n.4103G= n.342-3496G= c.5958G= (p.Gly1986=) c.8919G= (p.Gly2973=) c.8811G= (p.Gly2937=) c.8793G= (p.Gly2931=) c.5565G= (p.Gly1855=) c.3495G= (p.Gly1165=) c.8868G= (p.Gly2956=) c.8814G= (p.Gly2938=) c.8604G= (p.Gly2868=) c.8250G= (p.Gly2750=) c.6147G= (p.Gly2049=) n.9097G= c.8733G= (p.Gly2911=) c.7929G= (p.Gly2643=) c.7734G= (p.Gly2578=) n.9146G= | |
5 | g.37125280C>G | CA3237632 | CPLANE1 | n.1921G>C c.8922G>C (p.Gly2974=) n.783G>C c.8760G>C (p.Gly2920=) c.5934G>C (n.5934G>C) n.4103G>C n.342-3496G>C c.5958G>C (p.Gly1986=) c.8919G>C (p.Gly2973=) c.8811G>C (p.Gly2937=) c.8793G>C (p.Gly2931=) c.5565G>C (p.Gly1855=) c.3495G>C (p.Gly1165=) c.8868G>C (p.Gly2956=) c.8814G>C (p.Gly2938=) c.8604G>C (p.Gly2868=) c.8250G>C (p.Gly2750=) c.6147G>C (p.Gly2049=) n.9097G>C c.8733G>C (p.Gly2911=) c.7929G>C (p.Gly2643=) c.7734G>C (p.Gly2578=) n.9146G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37125280C>T | CA443921991 | CPLANE1 | n.1921G>A c.8922G>A (p.Gly2974=) n.783G>A c.8760G>A (p.Gly2920=) c.5934G>A (n.5934G>A) n.4103G>A n.342-3496G>A c.5958G>A (p.Gly1986=) c.8919G>A (p.Gly2973=) c.8811G>A (p.Gly2937=) c.8793G>A (p.Gly2931=) c.5565G>A (p.Gly1855=) c.3495G>A (p.Gly1165=) c.8868G>A (p.Gly2956=) c.8814G>A (p.Gly2938=) c.8604G>A (p.Gly2868=) c.8250G>A (p.Gly2750=) c.6147G>A (p.Gly2049=) n.9097G>A c.8733G>A (p.Gly2911=) c.7929G>A (p.Gly2643=) c.7734G>A (p.Gly2578=) n.9146G>A | gnomAD v4 |
5 | g.37125281C>A | CA359498672 | CPLANE1 | n.1920G>T c.8921G>T (p.Gly2974Val) n.782G>T c.8759G>T (p.Gly2920Val) c.5933G>T (n.5933G>T) n.4102G>T n.342-3497G>T c.5957G>T (p.Gly1986Val) c.8918G>T (p.Gly2973Val) c.8810G>T (p.Gly2937Val) c.8792G>T (p.Gly2931Val) c.5564G>T (p.Gly1855Val) c.3494G>T (p.Gly1165Val) c.8867G>T (p.Gly2956Val) c.8813G>T (p.Gly2938Val) c.8603G>T (p.Gly2868Val) c.8249G>T (p.Gly2750Val) c.6146G>T (p.Gly2049Val) n.9096G>T c.8732G>T (p.Gly2911Val) c.7928G>T (p.Gly2643Val) c.7733G>T (p.Gly2578Val) n.9145G>T | dbSNP gnomAD v2 |
5 | g.37125281C= | CA1539667612 | CPLANE1 | n.1920G= c.8921G= (p.Gly2974=) n.782G= c.8759G= (p.Gly2920=) c.5933G= (n.5933G=) n.4102G= n.342-3497G= c.5957G= (p.Gly1986=) c.8918G= (p.Gly2973=) c.8810G= (p.Gly2937=) c.8792G= (p.Gly2931=) c.5564G= (p.Gly1855=) c.3494G= (p.Gly1165=) c.8867G= (p.Gly2956=) c.8813G= (p.Gly2938=) c.8603G= (p.Gly2868=) c.8249G= (p.Gly2750=) c.6146G= (p.Gly2049=) n.9096G= c.8732G= (p.Gly2911=) c.7928G= (p.Gly2643=) c.7733G= (p.Gly2578=) n.9145G= | |
5 | g.37125281C>G | CA359498675 | CPLANE1 | n.1920G>C c.8921G>C (p.Gly2974Ala) n.782G>C c.8759G>C (p.Gly2920Ala) c.5933G>C (n.5933G>C) n.4102G>C n.342-3497G>C c.5957G>C (p.Gly1986Ala) c.8918G>C (p.Gly2973Ala) c.8810G>C (p.Gly2937Ala) c.8792G>C (p.Gly2931Ala) c.5564G>C (p.Gly1855Ala) c.3494G>C (p.Gly1165Ala) c.8867G>C (p.Gly2956Ala) c.8813G>C (p.Gly2938Ala) c.8603G>C (p.Gly2868Ala) c.8249G>C (p.Gly2750Ala) c.6146G>C (p.Gly2049Ala) n.9096G>C c.8732G>C (p.Gly2911Ala) c.7928G>C (p.Gly2643Ala) c.7733G>C (p.Gly2578Ala) n.9145G>C | |
5 | g.37125281C>T | CA117059185 | CPLANE1 | n.1920G>A c.8921G>A (p.Gly2974Glu) n.782G>A c.8759G>A (p.Gly2920Glu) c.5933G>A (n.5933G>A) n.4102G>A n.342-3497G>A c.5957G>A (p.Gly1986Glu) c.8918G>A (p.Gly2973Glu) c.8810G>A (p.Gly2937Glu) c.8792G>A (p.Gly2931Glu) c.5564G>A (p.Gly1855Glu) c.3494G>A (p.Gly1165Glu) c.8867G>A (p.Gly2956Glu) c.8813G>A (p.Gly2938Glu) c.8603G>A (p.Gly2868Glu) c.8249G>A (p.Gly2750Glu) c.6146G>A (p.Gly2049Glu) n.9096G>A c.8732G>A (p.Gly2911Glu) c.7928G>A (p.Gly2643Glu) c.7733G>A (p.Gly2578Glu) n.9145G>A | ClinVar dbSNP gnomAD v4 |
5 | g.37125282C>A | CA359498688 | CPLANE1 | n.1919G>T c.8920G>T (p.Gly2974Trp) n.781G>T c.8758G>T (p.Gly2920Trp) c.5932G>T (n.5932G>T) n.4101G>T n.342-3498G>T c.5956G>T (p.Gly1986Trp) c.8917G>T (p.Gly2973Trp) c.8809G>T (p.Gly2937Trp) c.8791G>T (p.Gly2931Trp) c.5563G>T (p.Gly1855Trp) c.3493G>T (p.Gly1165Trp) c.8866G>T (p.Gly2956Trp) c.8812G>T (p.Gly2938Trp) c.8602G>T (p.Gly2868Trp) c.8248G>T (p.Gly2750Trp) c.6145G>T (p.Gly2049Trp) n.9095G>T c.8731G>T (p.Gly2911Trp) c.7927G>T (p.Gly2643Trp) c.7732G>T (p.Gly2578Trp) n.9144G>T | |
5 | g.37125282C>G | CA359498702 | CPLANE1 | n.1919G>C c.8920G>C (p.Gly2974Arg) n.781G>C c.8758G>C (p.Gly2920Arg) c.5932G>C (n.5932G>C) n.4101G>C n.342-3498G>C c.5956G>C (p.Gly1986Arg) c.8917G>C (p.Gly2973Arg) c.8809G>C (p.Gly2937Arg) c.8791G>C (p.Gly2931Arg) c.5563G>C (p.Gly1855Arg) c.3493G>C (p.Gly1165Arg) c.8866G>C (p.Gly2956Arg) c.8812G>C (p.Gly2938Arg) c.8602G>C (p.Gly2868Arg) c.8248G>C (p.Gly2750Arg) c.6145G>C (p.Gly2049Arg) n.9095G>C c.8731G>C (p.Gly2911Arg) c.7927G>C (p.Gly2643Arg) c.7732G>C (p.Gly2578Arg) n.9144G>C | |
5 | g.37125282C>T | CA359498705 | CPLANE1 | n.1919G>A c.8920G>A (p.Gly2974Arg) n.781G>A c.8758G>A (p.Gly2920Arg) c.5932G>A (n.5932G>A) n.4101G>A n.342-3498G>A c.5956G>A (p.Gly1986Arg) c.8917G>A (p.Gly2973Arg) c.8809G>A (p.Gly2937Arg) c.8791G>A (p.Gly2931Arg) c.5563G>A (p.Gly1855Arg) c.3493G>A (p.Gly1165Arg) c.8866G>A (p.Gly2956Arg) c.8812G>A (p.Gly2938Arg) c.8602G>A (p.Gly2868Arg) c.8248G>A (p.Gly2750Arg) c.6145G>A (p.Gly2049Arg) n.9095G>A c.8731G>A (p.Gly2911Arg) c.7927G>A (p.Gly2643Arg) c.7732G>A (p.Gly2578Arg) n.9144G>A | |
5 | g.37125283T>A | CA359498708 | CPLANE1 | n.1918A>T c.8919A>T (p.Arg2973Ser) n.780A>T c.8757A>T (p.Arg2919Ser) c.5931A>T (n.5931A>T) n.4100A>T n.342-3499A>T c.5955A>T (p.Arg1985Ser) c.8916A>T (p.Arg2972Ser) c.8808A>T (p.Arg2936Ser) c.8790A>T (p.Arg2930Ser) c.5562A>T (p.Arg1854Ser) c.3492A>T (p.Arg1164Ser) c.8865A>T (p.Arg2955Ser) c.8811A>T (p.Arg2937Ser) c.8601A>T (p.Arg2867Ser) c.8247A>T (p.Arg2749Ser) c.6144A>T (p.Arg2048Ser) n.9094A>T c.8730A>T (p.Arg2910Ser) c.7926A>T (p.Arg2642Ser) c.7731A>T (p.Arg2577Ser) n.9143A>T | |
5 | g.37125283T>C | CA443921992 | CPLANE1 | n.1918A>G c.8919A>G (p.Arg2973=) n.780A>G c.8757A>G (p.Arg2919=) c.5931A>G (n.5931A>G) n.4100A>G n.342-3499A>G c.5955A>G (p.Arg1985=) c.8916A>G (p.Arg2972=) c.8808A>G (p.Arg2936=) c.8790A>G (p.Arg2930=) c.5562A>G (p.Arg1854=) c.3492A>G (p.Arg1164=) c.8865A>G (p.Arg2955=) c.8811A>G (p.Arg2937=) c.8601A>G (p.Arg2867=) c.8247A>G (p.Arg2749=) c.6144A>G (p.Arg2048=) n.9094A>G c.8730A>G (p.Arg2910=) c.7926A>G (p.Arg2642=) c.7731A>G (p.Arg2577=) n.9143A>G | |
5 | g.37125283T>G | CA359498717 | CPLANE1 | n.1918A>C c.8919A>C (p.Arg2973Ser) n.780A>C c.8757A>C (p.Arg2919Ser) c.5931A>C (n.5931A>C) n.4100A>C n.342-3499A>C c.5955A>C (p.Arg1985Ser) c.8916A>C (p.Arg2972Ser) c.8808A>C (p.Arg2936Ser) c.8790A>C (p.Arg2930Ser) c.5562A>C (p.Arg1854Ser) c.3492A>C (p.Arg1164Ser) c.8865A>C (p.Arg2955Ser) c.8811A>C (p.Arg2937Ser) c.8601A>C (p.Arg2867Ser) c.8247A>C (p.Arg2749Ser) c.6144A>C (p.Arg2048Ser) n.9094A>C c.8730A>C (p.Arg2910Ser) c.7926A>C (p.Arg2642Ser) c.7731A>C (p.Arg2577Ser) n.9143A>C | |
5 | g.37125284C>A | CA359498733 | CPLANE1 | n.1917G>T c.8918G>T (p.Arg2973Ile) n.779G>T c.8756G>T (p.Arg2919Ile) c.5930G>T (n.5930G>T) n.4099G>T n.342-3500G>T c.5954G>T (p.Arg1985Ile) c.8915G>T (p.Arg2972Ile) c.8807G>T (p.Arg2936Ile) c.8789G>T (p.Arg2930Ile) c.5561G>T (p.Arg1854Ile) c.3491G>T (p.Arg1164Ile) c.8864G>T (p.Arg2955Ile) c.8810G>T (p.Arg2937Ile) c.8600G>T (p.Arg2867Ile) c.8246G>T (p.Arg2749Ile) c.6143G>T (p.Arg2048Ile) n.9093G>T c.8729G>T (p.Arg2910Ile) c.7925G>T (p.Arg2642Ile) c.7730G>T (p.Arg2577Ile) n.9142G>T | |
5 | g.37125284C>G | CA359498734 | CPLANE1 | n.1917G>C c.8918G>C (p.Arg2973Thr) n.779G>C c.8756G>C (p.Arg2919Thr) c.5930G>C (n.5930G>C) n.4099G>C n.342-3500G>C c.5954G>C (p.Arg1985Thr) c.8915G>C (p.Arg2972Thr) c.8807G>C (p.Arg2936Thr) c.8789G>C (p.Arg2930Thr) c.5561G>C (p.Arg1854Thr) c.3491G>C (p.Arg1164Thr) c.8864G>C (p.Arg2955Thr) c.8810G>C (p.Arg2937Thr) c.8600G>C (p.Arg2867Thr) c.8246G>C (p.Arg2749Thr) c.6143G>C (p.Arg2048Thr) n.9093G>C c.8729G>C (p.Arg2910Thr) c.7925G>C (p.Arg2642Thr) c.7730G>C (p.Arg2577Thr) n.9142G>C | |
5 | g.37125284C>T | CA359498743 | CPLANE1 | n.1917G>A c.8918G>A (p.Arg2973Lys) n.779G>A c.8756G>A (p.Arg2919Lys) c.5930G>A (n.5930G>A) n.4099G>A n.342-3500G>A c.5954G>A (p.Arg1985Lys) c.8915G>A (p.Arg2972Lys) c.8807G>A (p.Arg2936Lys) c.8789G>A (p.Arg2930Lys) c.5561G>A (p.Arg1854Lys) c.3491G>A (p.Arg1164Lys) c.8864G>A (p.Arg2955Lys) c.8810G>A (p.Arg2937Lys) c.8600G>A (p.Arg2867Lys) c.8246G>A (p.Arg2749Lys) c.6143G>A (p.Arg2048Lys) n.9093G>A c.8729G>A (p.Arg2910Lys) c.7925G>A (p.Arg2642Lys) c.7730G>A (p.Arg2577Lys) n.9142G>A | |
5 | g.37125285T>A | CA359498746 | CPLANE1 | n.1916A>T c.8917A>T (p.Arg2973Ter) n.778A>T c.8755A>T (p.Arg2919Ter) c.5929A>T (n.5929A>T) n.4098A>T n.342-3501A>T c.5953A>T (p.Arg1985Ter) c.8914A>T (p.Arg2972Ter) c.8806A>T (p.Arg2936Ter) c.8788A>T (p.Arg2930Ter) c.5560A>T (p.Arg1854Ter) c.3490A>T (p.Arg1164Ter) c.8863A>T (p.Arg2955Ter) c.8809A>T (p.Arg2937Ter) c.8599A>T (p.Arg2867Ter) c.8245A>T (p.Arg2749Ter) c.6142A>T (p.Arg2048Ter) n.9092A>T c.8728A>T (p.Arg2910Ter) c.7924A>T (p.Arg2642Ter) c.7729A>T (p.Arg2577Ter) n.9141A>T | |
5 | g.37125285T>C | CA359498749 | CPLANE1 | n.1916A>G c.8917A>G (p.Arg2973Gly) n.778A>G c.8755A>G (p.Arg2919Gly) c.5929A>G (n.5929A>G) n.4098A>G n.342-3501A>G c.5953A>G (p.Arg1985Gly) c.8914A>G (p.Arg2972Gly) c.8806A>G (p.Arg2936Gly) c.8788A>G (p.Arg2930Gly) c.5560A>G (p.Arg1854Gly) c.3490A>G (p.Arg1164Gly) c.8863A>G (p.Arg2955Gly) c.8809A>G (p.Arg2937Gly) c.8599A>G (p.Arg2867Gly) c.8245A>G (p.Arg2749Gly) c.6142A>G (p.Arg2048Gly) n.9092A>G c.8728A>G (p.Arg2910Gly) c.7924A>G (p.Arg2642Gly) c.7729A>G (p.Arg2577Gly) n.9141A>G | |
5 | g.37125285T>G | CA443921993 | CPLANE1 | n.1916A>C c.8917A>C (p.Arg2973=) n.778A>C c.8755A>C (p.Arg2919=) c.5929A>C (n.5929A>C) n.4098A>C n.342-3501A>C c.5953A>C (p.Arg1985=) c.8914A>C (p.Arg2972=) c.8806A>C (p.Arg2936=) c.8788A>C (p.Arg2930=) c.5560A>C (p.Arg1854=) c.3490A>C (p.Arg1164=) c.8863A>C (p.Arg2955=) c.8809A>C (p.Arg2937=) c.8599A>C (p.Arg2867=) c.8245A>C (p.Arg2749=) c.6142A>C (p.Arg2048=) n.9092A>C c.8728A>C (p.Arg2910=) c.7924A>C (p.Arg2642=) c.7729A>C (p.Arg2577=) n.9141A>C | |
5 | g.37125286C>A | CA359498752 | CPLANE1 | n.1915G>T c.8916G>T (p.Lys2972Asn) n.777G>T c.8754G>T (p.Lys2918Asn) c.5928G>T (n.5928G>T) n.4097G>T n.342-3502G>T c.5952G>T (p.Lys1984Asn) c.8913G>T (p.Lys2971Asn) c.8805G>T (p.Lys2935Asn) c.8787G>T (p.Lys2929Asn) c.5559G>T (p.Lys1853Asn) c.3489G>T (p.Lys1163Asn) c.8862G>T (p.Lys2954Asn) c.8808G>T (p.Lys2936Asn) c.8598G>T (p.Lys2866Asn) c.8244G>T (p.Lys2748Asn) c.6141G>T (p.Lys2047Asn) n.9091G>T c.8727G>T (p.Lys2909Asn) c.7923G>T (p.Lys2641Asn) c.7728G>T (p.Lys2576Asn) n.9140G>T | |
5 | g.37125286C>G | CA359498753 | CPLANE1 | n.1915G>C c.8916G>C (p.Lys2972Asn) n.777G>C c.8754G>C (p.Lys2918Asn) c.5928G>C (n.5928G>C) n.4097G>C n.342-3502G>C c.5952G>C (p.Lys1984Asn) c.8913G>C (p.Lys2971Asn) c.8805G>C (p.Lys2935Asn) c.8787G>C (p.Lys2929Asn) c.5559G>C (p.Lys1853Asn) c.3489G>C (p.Lys1163Asn) c.8862G>C (p.Lys2954Asn) c.8808G>C (p.Lys2936Asn) c.8598G>C (p.Lys2866Asn) c.8244G>C (p.Lys2748Asn) c.6141G>C (p.Lys2047Asn) n.9091G>C c.8727G>C (p.Lys2909Asn) c.7923G>C (p.Lys2641Asn) c.7728G>C (p.Lys2576Asn) n.9140G>C | COSMIC COSMIC |
5 | g.37125286C>T | CA443921994 | CPLANE1 | n.1915G>A c.8916G>A (p.Lys2972=) n.777G>A c.8754G>A (p.Lys2918=) c.5928G>A (n.5928G>A) n.4097G>A n.342-3502G>A c.5952G>A (p.Lys1984=) c.8913G>A (p.Lys2971=) c.8805G>A (p.Lys2935=) c.8787G>A (p.Lys2929=) c.5559G>A (p.Lys1853=) c.3489G>A (p.Lys1163=) c.8862G>A (p.Lys2954=) c.8808G>A (p.Lys2936=) c.8598G>A (p.Lys2866=) c.8244G>A (p.Lys2748=) c.6141G>A (p.Lys2047=) n.9091G>A c.8727G>A (p.Lys2909=) c.7923G>A (p.Lys2641=) c.7728G>A (p.Lys2576=) n.9140G>A | |
5 | g.37125287T>A | CA359498756 | CPLANE1 | n.1914A>T c.8915A>T (p.Lys2972Met) n.776A>T c.8753A>T (p.Lys2918Met) c.5927A>T (n.5927A>T) n.4096A>T n.342-3503A>T c.5951A>T (p.Lys1984Met) c.8912A>T (p.Lys2971Met) c.8804A>T (p.Lys2935Met) c.8786A>T (p.Lys2929Met) c.5558A>T (p.Lys1853Met) c.3488A>T (p.Lys1163Met) c.8861A>T (p.Lys2954Met) c.8807A>T (p.Lys2936Met) c.8597A>T (p.Lys2866Met) c.8243A>T (p.Lys2748Met) c.6140A>T (p.Lys2047Met) n.9090A>T c.8726A>T (p.Lys2909Met) c.7922A>T (p.Lys2641Met) c.7727A>T (p.Lys2576Met) n.9139A>T | |
5 | g.37125287T>C | CA359498757 | CPLANE1 | n.1914A>G c.8915A>G (p.Lys2972Arg) n.776A>G c.8753A>G (p.Lys2918Arg) c.5927A>G (n.5927A>G) n.4096A>G n.342-3503A>G c.5951A>G (p.Lys1984Arg) c.8912A>G (p.Lys2971Arg) c.8804A>G (p.Lys2935Arg) c.8786A>G (p.Lys2929Arg) c.5558A>G (p.Lys1853Arg) c.3488A>G (p.Lys1163Arg) c.8861A>G (p.Lys2954Arg) c.8807A>G (p.Lys2936Arg) c.8597A>G (p.Lys2866Arg) c.8243A>G (p.Lys2748Arg) c.6140A>G (p.Lys2047Arg) n.9090A>G c.8726A>G (p.Lys2909Arg) c.7922A>G (p.Lys2641Arg) c.7727A>G (p.Lys2576Arg) n.9139A>G | |
5 | g.37125287T>G | CA359498758 | CPLANE1 | n.1914A>C c.8915A>C (p.Lys2972Thr) n.776A>C c.8753A>C (p.Lys2918Thr) c.5927A>C (n.5927A>C) n.4096A>C n.342-3503A>C c.5951A>C (p.Lys1984Thr) c.8912A>C (p.Lys2971Thr) c.8804A>C (p.Lys2935Thr) c.8786A>C (p.Lys2929Thr) c.5558A>C (p.Lys1853Thr) c.3488A>C (p.Lys1163Thr) c.8861A>C (p.Lys2954Thr) c.8807A>C (p.Lys2936Thr) c.8597A>C (p.Lys2866Thr) c.8243A>C (p.Lys2748Thr) c.6140A>C (p.Lys2047Thr) n.9090A>C c.8726A>C (p.Lys2909Thr) c.7922A>C (p.Lys2641Thr) c.7727A>C (p.Lys2576Thr) n.9139A>C | |
5 | g.37125288T>A | CA359498759 | CPLANE1 | n.1913A>T c.8914A>T (p.Lys2972Ter) n.775A>T c.8752A>T (p.Lys2918Ter) c.5926A>T (n.5926A>T) n.4095A>T n.342-3504A>T c.5950A>T (p.Lys1984Ter) c.8911A>T (p.Lys2971Ter) c.8803A>T (p.Lys2935Ter) c.8785A>T (p.Lys2929Ter) c.5557A>T (p.Lys1853Ter) c.3487A>T (p.Lys1163Ter) c.8860A>T (p.Lys2954Ter) c.8806A>T (p.Lys2936Ter) c.8596A>T (p.Lys2866Ter) c.8242A>T (p.Lys2748Ter) c.6139A>T (p.Lys2047Ter) n.9089A>T c.8725A>T (p.Lys2909Ter) c.7921A>T (p.Lys2641Ter) c.7726A>T (p.Lys2576Ter) n.9138A>T | |
5 | g.37125288T>C | CA359498760 | CPLANE1 | n.1913A>G c.8914A>G (p.Lys2972Glu) n.775A>G c.8752A>G (p.Lys2918Glu) c.5926A>G (n.5926A>G) n.4095A>G n.342-3504A>G c.5950A>G (p.Lys1984Glu) c.8911A>G (p.Lys2971Glu) c.8803A>G (p.Lys2935Glu) c.8785A>G (p.Lys2929Glu) c.5557A>G (p.Lys1853Glu) c.3487A>G (p.Lys1163Glu) c.8860A>G (p.Lys2954Glu) c.8806A>G (p.Lys2936Glu) c.8596A>G (p.Lys2866Glu) c.8242A>G (p.Lys2748Glu) c.6139A>G (p.Lys2047Glu) n.9089A>G c.8725A>G (p.Lys2909Glu) c.7921A>G (p.Lys2641Glu) c.7726A>G (p.Lys2576Glu) n.9138A>G | |
5 | g.37125288T>G | CA359498761 | CPLANE1 | n.1913A>C c.8914A>C (p.Lys2972Gln) n.775A>C c.8752A>C (p.Lys2918Gln) c.5926A>C (n.5926A>C) n.4095A>C n.342-3504A>C c.5950A>C (p.Lys1984Gln) c.8911A>C (p.Lys2971Gln) c.8803A>C (p.Lys2935Gln) c.8785A>C (p.Lys2929Gln) c.5557A>C (p.Lys1853Gln) c.3487A>C (p.Lys1163Gln) c.8860A>C (p.Lys2954Gln) c.8806A>C (p.Lys2936Gln) c.8596A>C (p.Lys2866Gln) c.8242A>C (p.Lys2748Gln) c.6139A>C (p.Lys2047Gln) n.9089A>C c.8725A>C (p.Lys2909Gln) c.7921A>C (p.Lys2641Gln) c.7726A>C (p.Lys2576Gln) n.9138A>C | |
5 | g.37125289T>A | CA359498766 | CPLANE1 | n.1912A>T c.8913A>T (p.Glu2971Asp) n.774A>T c.8751A>T (p.Glu2917Asp) c.5925A>T (n.5925A>T) n.4094A>T n.342-3505A>T c.5949A>T (p.Glu1983Asp) c.8910A>T (p.Glu2970Asp) c.8802A>T (p.Glu2934Asp) c.8784A>T (p.Glu2928Asp) c.5556A>T (p.Glu1852Asp) c.3486A>T (p.Glu1162Asp) c.8859A>T (p.Glu2953Asp) c.8805A>T (p.Glu2935Asp) c.8595A>T (p.Glu2865Asp) c.8241A>T (p.Glu2747Asp) c.6138A>T (p.Glu2046Asp) n.9088A>T c.8724A>T (p.Glu2908Asp) c.7920A>T (p.Glu2640Asp) c.7725A>T (p.Glu2575Asp) n.9137A>T | |
5 | g.37125289T>C | CA443921995 | CPLANE1 | n.1912A>G c.8913A>G (p.Glu2971=) n.774A>G c.8751A>G (p.Glu2917=) c.5925A>G (n.5925A>G) n.4094A>G n.342-3505A>G c.5949A>G (p.Glu1983=) c.8910A>G (p.Glu2970=) c.8802A>G (p.Glu2934=) c.8784A>G (p.Glu2928=) c.5556A>G (p.Glu1852=) c.3486A>G (p.Glu1162=) c.8859A>G (p.Glu2953=) c.8805A>G (p.Glu2935=) c.8595A>G (p.Glu2865=) c.8241A>G (p.Glu2747=) c.6138A>G (p.Glu2046=) n.9088A>G c.8724A>G (p.Glu2908=) c.7920A>G (p.Glu2640=) c.7725A>G (p.Glu2575=) n.9137A>G | |
5 | g.37125289T>G | CA359498763 | CPLANE1 | n.1912A>C c.8913A>C (p.Glu2971Asp) n.774A>C c.8751A>C (p.Glu2917Asp) c.5925A>C (n.5925A>C) n.4094A>C n.342-3505A>C c.5949A>C (p.Glu1983Asp) c.8910A>C (p.Glu2970Asp) c.8802A>C (p.Glu2934Asp) c.8784A>C (p.Glu2928Asp) c.5556A>C (p.Glu1852Asp) c.3486A>C (p.Glu1162Asp) c.8859A>C (p.Glu2953Asp) c.8805A>C (p.Glu2935Asp) c.8595A>C (p.Glu2865Asp) c.8241A>C (p.Glu2747Asp) c.6138A>C (p.Glu2046Asp) n.9088A>C c.8724A>C (p.Glu2908Asp) c.7920A>C (p.Glu2640Asp) c.7725A>C (p.Glu2575Asp) n.9137A>C | |
5 | g.37125290T>A | CA359498770 | CPLANE1 | n.1911A>T c.8912A>T (p.Glu2971Val) n.773A>T c.8750A>T (p.Glu2917Val) c.5924A>T (n.5924A>T) n.4093A>T n.342-3506A>T c.5948A>T (p.Glu1983Val) c.8909A>T (p.Glu2970Val) c.8801A>T (p.Glu2934Val) c.8783A>T (p.Glu2928Val) c.5555A>T (p.Glu1852Val) c.3485A>T (p.Glu1162Val) c.8858A>T (p.Glu2953Val) c.8804A>T (p.Glu2935Val) c.8594A>T (p.Glu2865Val) c.8240A>T (p.Glu2747Val) c.6137A>T (p.Glu2046Val) n.9087A>T c.8723A>T (p.Glu2908Val) c.7919A>T (p.Glu2640Val) c.7724A>T (p.Glu2575Val) n.9136A>T | |
5 | g.37125290T>C | CA359498773 | CPLANE1 | n.1911A>G c.8912A>G (p.Glu2971Gly) n.773A>G c.8750A>G (p.Glu2917Gly) c.5924A>G (n.5924A>G) n.4093A>G n.342-3506A>G c.5948A>G (p.Glu1983Gly) c.8909A>G (p.Glu2970Gly) c.8801A>G (p.Glu2934Gly) c.8783A>G (p.Glu2928Gly) c.5555A>G (p.Glu1852Gly) c.3485A>G (p.Glu1162Gly) c.8858A>G (p.Glu2953Gly) c.8804A>G (p.Glu2935Gly) c.8594A>G (p.Glu2865Gly) c.8240A>G (p.Glu2747Gly) c.6137A>G (p.Glu2046Gly) n.9087A>G c.8723A>G (p.Glu2908Gly) c.7919A>G (p.Glu2640Gly) c.7724A>G (p.Glu2575Gly) n.9136A>G | gnomAD v4 |
5 | g.37125290T>G | CA359498772 | CPLANE1 | n.1911A>C c.8912A>C (p.Glu2971Ala) n.773A>C c.8750A>C (p.Glu2917Ala) c.5924A>C (n.5924A>C) n.4093A>C n.342-3506A>C c.5948A>C (p.Glu1983Ala) c.8909A>C (p.Glu2970Ala) c.8801A>C (p.Glu2934Ala) c.8783A>C (p.Glu2928Ala) c.5555A>C (p.Glu1852Ala) c.3485A>C (p.Glu1162Ala) c.8858A>C (p.Glu2953Ala) c.8804A>C (p.Glu2935Ala) c.8594A>C (p.Glu2865Ala) c.8240A>C (p.Glu2747Ala) c.6137A>C (p.Glu2046Ala) n.9087A>C c.8723A>C (p.Glu2908Ala) c.7919A>C (p.Glu2640Ala) c.7724A>C (p.Glu2575Ala) n.9136A>C | |
5 | g.37125291C>A | CA359498774 | CPLANE1 | n.1910G>T c.8911G>T (p.Glu2971Ter) n.772G>T c.8749G>T (p.Glu2917Ter) c.5923G>T (n.5923G>T) n.4092G>T n.342-3507G>T c.5947G>T (p.Glu1983Ter) c.8908G>T (p.Glu2970Ter) c.8800G>T (p.Glu2934Ter) c.8782G>T (p.Glu2928Ter) c.5554G>T (p.Glu1852Ter) c.3484G>T (p.Glu1162Ter) c.8857G>T (p.Glu2953Ter) c.8803G>T (p.Glu2935Ter) c.8593G>T (p.Glu2865Ter) c.8239G>T (p.Glu2747Ter) c.6136G>T (p.Glu2046Ter) n.9086G>T c.8722G>T (p.Glu2908Ter) c.7918G>T (p.Glu2640Ter) c.7723G>T (p.Glu2575Ter) n.9135G>T | |
5 | g.37125291C= | CA1539667613 | CPLANE1 | n.1910G= c.8911G= (p.Glu2971=) n.772G= c.8749G= (p.Glu2917=) c.5923G= (n.5923G=) n.4092G= n.342-3507G= c.5947G= (p.Glu1983=) c.8908G= (p.Glu2970=) c.8800G= (p.Glu2934=) c.8782G= (p.Glu2928=) c.5554G= (p.Glu1852=) c.3484G= (p.Glu1162=) c.8857G= (p.Glu2953=) c.8803G= (p.Glu2935=) c.8593G= (p.Glu2865=) c.8239G= (p.Glu2747=) c.6136G= (p.Glu2046=) n.9086G= c.8722G= (p.Glu2908=) c.7918G= (p.Glu2640=) c.7723G= (p.Glu2575=) n.9135G= | |
5 | g.37125291C>G | CA359498776 | CPLANE1 | n.1910G>C c.8911G>C (p.Glu2971Gln) n.772G>C c.8749G>C (p.Glu2917Gln) c.5923G>C (n.5923G>C) n.4092G>C n.342-3507G>C c.5947G>C (p.Glu1983Gln) c.8908G>C (p.Glu2970Gln) c.8800G>C (p.Glu2934Gln) c.8782G>C (p.Glu2928Gln) c.5554G>C (p.Glu1852Gln) c.3484G>C (p.Glu1162Gln) c.8857G>C (p.Glu2953Gln) c.8803G>C (p.Glu2935Gln) c.8593G>C (p.Glu2865Gln) c.8239G>C (p.Glu2747Gln) c.6136G>C (p.Glu2046Gln) n.9086G>C c.8722G>C (p.Glu2908Gln) c.7918G>C (p.Glu2640Gln) c.7723G>C (p.Glu2575Gln) n.9135G>C | |
5 | g.37125291C>T | CA359498775 | CPLANE1 | n.1910G>A c.8911G>A (p.Glu2971Lys) n.772G>A c.8749G>A (p.Glu2917Lys) c.5923G>A (n.5923G>A) n.4092G>A n.342-3507G>A c.5947G>A (p.Glu1983Lys) c.8908G>A (p.Glu2970Lys) c.8800G>A (p.Glu2934Lys) c.8782G>A (p.Glu2928Lys) c.5554G>A (p.Glu1852Lys) c.3484G>A (p.Glu1162Lys) c.8857G>A (p.Glu2953Lys) c.8803G>A (p.Glu2935Lys) c.8593G>A (p.Glu2865Lys) c.8239G>A (p.Glu2747Lys) c.6136G>A (p.Glu2046Lys) n.9086G>A c.8722G>A (p.Glu2908Lys) c.7918G>A (p.Glu2640Lys) c.7723G>A (p.Glu2575Lys) n.9135G>A | dbSNP |
5 | g.37125292T>A | CA443921996 | CPLANE1 | n.1909A>T c.8910A>T (p.Ala2970=) n.771A>T c.8748A>T (p.Ala2916=) c.5922A>T (n.5922A>T) n.4091A>T n.342-3508A>T c.5946A>T (p.Ala1982=) c.8907A>T (p.Ala2969=) c.8799A>T (p.Ala2933=) c.8781A>T (p.Ala2927=) c.5553A>T (p.Ala1851=) c.3483A>T (p.Ala1161=) c.8856A>T (p.Ala2952=) c.8802A>T (p.Ala2934=) c.8592A>T (p.Ala2864=) c.8238A>T (p.Ala2746=) c.6135A>T (p.Ala2045=) n.9085A>T c.8721A>T (p.Ala2907=) c.7917A>T (p.Ala2639=) c.7722A>T (p.Ala2574=) n.9134A>T | |
5 | g.37125292T>C | CA443921998 | CPLANE1 | n.1909A>G c.8910A>G (p.Ala2970=) n.771A>G c.8748A>G (p.Ala2916=) c.5922A>G (n.5922A>G) n.4091A>G n.342-3508A>G c.5946A>G (p.Ala1982=) c.8907A>G (p.Ala2969=) c.8799A>G (p.Ala2933=) c.8781A>G (p.Ala2927=) c.5553A>G (p.Ala1851=) c.3483A>G (p.Ala1161=) c.8856A>G (p.Ala2952=) c.8802A>G (p.Ala2934=) c.8592A>G (p.Ala2864=) c.8238A>G (p.Ala2746=) c.6135A>G (p.Ala2045=) n.9085A>G c.8721A>G (p.Ala2907=) c.7917A>G (p.Ala2639=) c.7722A>G (p.Ala2574=) n.9134A>G | dbSNP |
5 | g.37125292T>G | CA443921999 | CPLANE1 | n.1909A>C c.8910A>C (p.Ala2970=) n.771A>C c.8748A>C (p.Ala2916=) c.5922A>C (n.5922A>C) n.4091A>C n.342-3508A>C c.5946A>C (p.Ala1982=) c.8907A>C (p.Ala2969=) c.8799A>C (p.Ala2933=) c.8781A>C (p.Ala2927=) c.5553A>C (p.Ala1851=) c.3483A>C (p.Ala1161=) c.8856A>C (p.Ala2952=) c.8802A>C (p.Ala2934=) c.8592A>C (p.Ala2864=) c.8238A>C (p.Ala2746=) c.6135A>C (p.Ala2045=) n.9085A>C c.8721A>C (p.Ala2907=) c.7917A>C (p.Ala2639=) c.7722A>C (p.Ala2574=) n.9134A>C | |
5 | g.37125292T= | CA1539667615 | CPLANE1 | n.1909A= c.8910A= (p.Ala2970=) n.771A= c.8748A= (p.Ala2916=) c.5922A= (n.5922A=) n.4091A= n.342-3508A= c.5946A= (p.Ala1982=) c.8907A= (p.Ala2969=) c.8799A= (p.Ala2933=) c.8781A= (p.Ala2927=) c.5553A= (p.Ala1851=) c.3483A= (p.Ala1161=) c.8856A= (p.Ala2952=) c.8802A= (p.Ala2934=) c.8592A= (p.Ala2864=) c.8238A= (p.Ala2746=) c.6135A= (p.Ala2045=) n.9085A= c.8721A= (p.Ala2907=) c.7917A= (p.Ala2639=) c.7722A= (p.Ala2574=) n.9134A= | |
5 | g.37125293G>A | CA359498778 | CPLANE1 | n.1908C>T c.8909C>T (p.Ala2970Val) n.770C>T c.8747C>T (p.Ala2916Val) c.5921C>T (n.5921C>T) n.4090C>T n.342-3509C>T c.5945C>T (p.Ala1982Val) c.8906C>T (p.Ala2969Val) c.8798C>T (p.Ala2933Val) c.8780C>T (p.Ala2927Val) c.5552C>T (p.Ala1851Val) c.3482C>T (p.Ala1161Val) c.8855C>T (p.Ala2952Val) c.8801C>T (p.Ala2934Val) c.8591C>T (p.Ala2864Val) c.8237C>T (p.Ala2746Val) c.6134C>T (p.Ala2045Val) n.9084C>T c.8720C>T (p.Ala2907Val) c.7916C>T (p.Ala2639Val) c.7721C>T (p.Ala2574Val) n.9133C>T | gnomAD v4 |
5 | g.37125293G>C | CA359498781 | CPLANE1 | n.1908C>G c.8909C>G (p.Ala2970Gly) n.770C>G c.8747C>G (p.Ala2916Gly) c.5921C>G (n.5921C>G) n.4090C>G n.342-3509C>G c.5945C>G (p.Ala1982Gly) c.8906C>G (p.Ala2969Gly) c.8798C>G (p.Ala2933Gly) c.8780C>G (p.Ala2927Gly) c.5552C>G (p.Ala1851Gly) c.3482C>G (p.Ala1161Gly) c.8855C>G (p.Ala2952Gly) c.8801C>G (p.Ala2934Gly) c.8591C>G (p.Ala2864Gly) c.8237C>G (p.Ala2746Gly) c.6134C>G (p.Ala2045Gly) n.9084C>G c.8720C>G (p.Ala2907Gly) c.7916C>G (p.Ala2639Gly) c.7721C>G (p.Ala2574Gly) n.9133C>G | ClinVar gnomAD v4 |
5 | g.37125293G= | CA1539667617 | CPLANE1 | n.1908C= c.8909C= (p.Ala2970=) n.770C= c.8747C= (p.Ala2916=) c.5921C= (n.5921C=) n.4090C= n.342-3509C= c.5945C= (p.Ala1982=) c.8906C= (p.Ala2969=) c.8798C= (p.Ala2933=) c.8780C= (p.Ala2927=) c.5552C= (p.Ala1851=) c.3482C= (p.Ala1161=) c.8855C= (p.Ala2952=) c.8801C= (p.Ala2934=) c.8591C= (p.Ala2864=) c.8237C= (p.Ala2746=) c.6134C= (p.Ala2045=) n.9084C= c.8720C= (p.Ala2907=) c.7916C= (p.Ala2639=) c.7721C= (p.Ala2574=) n.9133C= | |
5 | g.37125293G>T | CA359498784 | CPLANE1 | n.1908C>A c.8909C>A (p.Ala2970Glu) n.770C>A c.8747C>A (p.Ala2916Glu) c.5921C>A (n.5921C>A) n.4090C>A n.342-3509C>A c.5945C>A (p.Ala1982Glu) c.8906C>A (p.Ala2969Glu) c.8798C>A (p.Ala2933Glu) c.8780C>A (p.Ala2927Glu) c.5552C>A (p.Ala1851Glu) c.3482C>A (p.Ala1161Glu) c.8855C>A (p.Ala2952Glu) c.8801C>A (p.Ala2934Glu) c.8591C>A (p.Ala2864Glu) c.8237C>A (p.Ala2746Glu) c.6134C>A (p.Ala2045Glu) n.9084C>A c.8720C>A (p.Ala2907Glu) c.7916C>A (p.Ala2639Glu) c.7721C>A (p.Ala2574Glu) n.9133C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37125294C>A | CA359498786 | CPLANE1 | n.1907G>T c.8908G>T (p.Ala2970Ser) n.769G>T c.8746G>T (p.Ala2916Ser) c.5920G>T (n.5920G>T) n.4089G>T n.342-3510G>T c.5944G>T (p.Ala1982Ser) c.8905G>T (p.Ala2969Ser) c.8797G>T (p.Ala2933Ser) c.8779G>T (p.Ala2927Ser) c.5551G>T (p.Ala1851Ser) c.3481G>T (p.Ala1161Ser) c.8854G>T (p.Ala2952Ser) c.8800G>T (p.Ala2934Ser) c.8590G>T (p.Ala2864Ser) c.8236G>T (p.Ala2746Ser) c.6133G>T (p.Ala2045Ser) n.9083G>T c.8719G>T (p.Ala2907Ser) c.7915G>T (p.Ala2639Ser) c.7720G>T (p.Ala2574Ser) n.9132G>T | |
5 | g.37125294C= | CA1539667620 | CPLANE1 | n.1907G= c.8908G= (p.Ala2970=) n.769G= c.8746G= (p.Ala2916=) c.5920G= (n.5920G=) n.4089G= n.342-3510G= c.5944G= (p.Ala1982=) c.8905G= (p.Ala2969=) c.8797G= (p.Ala2933=) c.8779G= (p.Ala2927=) c.5551G= (p.Ala1851=) c.3481G= (p.Ala1161=) c.8854G= (p.Ala2952=) c.8800G= (p.Ala2934=) c.8590G= (p.Ala2864=) c.8236G= (p.Ala2746=) c.6133G= (p.Ala2045=) n.9083G= c.8719G= (p.Ala2907=) c.7915G= (p.Ala2639=) c.7720G= (p.Ala2574=) n.9132G= | |
5 | g.37125294C>G | CA359498790 | CPLANE1 | n.1907G>C c.8908G>C (p.Ala2970Pro) n.769G>C c.8746G>C (p.Ala2916Pro) c.5920G>C (n.5920G>C) n.4089G>C n.342-3510G>C c.5944G>C (p.Ala1982Pro) c.8905G>C (p.Ala2969Pro) c.8797G>C (p.Ala2933Pro) c.8779G>C (p.Ala2927Pro) c.5551G>C (p.Ala1851Pro) c.3481G>C (p.Ala1161Pro) c.8854G>C (p.Ala2952Pro) c.8800G>C (p.Ala2934Pro) c.8590G>C (p.Ala2864Pro) c.8236G>C (p.Ala2746Pro) c.6133G>C (p.Ala2045Pro) n.9083G>C c.8719G>C (p.Ala2907Pro) c.7915G>C (p.Ala2639Pro) c.7720G>C (p.Ala2574Pro) n.9132G>C | |
5 | g.37125294C>T | CA3237633 | CPLANE1 | n.1907G>A c.8908G>A (p.Ala2970Thr) n.769G>A c.8746G>A (p.Ala2916Thr) c.5920G>A (n.5920G>A) n.4089G>A n.342-3510G>A c.5944G>A (p.Ala1982Thr) c.8905G>A (p.Ala2969Thr) c.8797G>A (p.Ala2933Thr) c.8779G>A (p.Ala2927Thr) c.5551G>A (p.Ala1851Thr) c.3481G>A (p.Ala1161Thr) c.8854G>A (p.Ala2952Thr) c.8800G>A (p.Ala2934Thr) c.8590G>A (p.Ala2864Thr) c.8236G>A (p.Ala2746Thr) c.6133G>A (p.Ala2045Thr) n.9083G>A c.8719G>A (p.Ala2907Thr) c.7915G>A (p.Ala2639Thr) c.7720G>A (p.Ala2574Thr) n.9132G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37125295C>A | CA443922002 | CPLANE1 | n.1906G>T c.8907G>T (p.Leu2969=) n.768G>T c.8745G>T (p.Leu2915=) c.5919G>T (n.5919G>T) n.4088G>T n.342-3511G>T c.5943G>T (p.Leu1981=) c.8904G>T (p.Leu2968=) c.8796G>T (p.Leu2932=) c.8778G>T (p.Leu2926=) c.5550G>T (p.Leu1850=) c.3480G>T (p.Leu1160=) c.8853G>T (p.Leu2951=) c.8799G>T (p.Leu2933=) c.8589G>T (p.Leu2863=) c.8235G>T (p.Leu2745=) c.6132G>T (p.Leu2044=) n.9082G>T c.8718G>T (p.Leu2906=) c.7914G>T (p.Leu2638=) c.7719G>T (p.Leu2573=) n.9131G>T | |
5 | g.37125295C>G | CA443922000 | CPLANE1 | n.1906G>C c.8907G>C (p.Leu2969=) n.768G>C c.8745G>C (p.Leu2915=) c.5919G>C (n.5919G>C) n.4088G>C n.342-3511G>C c.5943G>C (p.Leu1981=) c.8904G>C (p.Leu2968=) c.8796G>C (p.Leu2932=) c.8778G>C (p.Leu2926=) c.5550G>C (p.Leu1850=) c.3480G>C (p.Leu1160=) c.8853G>C (p.Leu2951=) c.8799G>C (p.Leu2933=) c.8589G>C (p.Leu2863=) c.8235G>C (p.Leu2745=) c.6132G>C (p.Leu2044=) n.9082G>C c.8718G>C (p.Leu2906=) c.7914G>C (p.Leu2638=) c.7719G>C (p.Leu2573=) n.9131G>C | |
5 | g.37125295C>T | CA443922001 | CPLANE1 | n.1906G>A c.8907G>A (p.Leu2969=) n.768G>A c.8745G>A (p.Leu2915=) c.5919G>A (n.5919G>A) n.4088G>A n.342-3511G>A c.5943G>A (p.Leu1981=) c.8904G>A (p.Leu2968=) c.8796G>A (p.Leu2932=) c.8778G>A (p.Leu2926=) c.5550G>A (p.Leu1850=) c.3480G>A (p.Leu1160=) c.8853G>A (p.Leu2951=) c.8799G>A (p.Leu2933=) c.8589G>A (p.Leu2863=) c.8235G>A (p.Leu2745=) c.6132G>A (p.Leu2044=) n.9082G>A c.8718G>A (p.Leu2906=) c.7914G>A (p.Leu2638=) c.7719G>A (p.Leu2573=) n.9131G>A | |
5 | g.37125296A= | CA1539667622 | CPLANE1 | n.1905T= c.8906T= (p.Leu2969=) n.767T= c.8744T= (p.Leu2915=) c.5918T= (n.5918T=) n.4087T= n.342-3512T= c.5942T= (p.Leu1981=) c.8903T= (p.Leu2968=) c.8795T= (p.Leu2932=) c.8777T= (p.Leu2926=) c.5549T= (p.Leu1850=) c.3479T= (p.Leu1160=) c.8852T= (p.Leu2951=) c.8798T= (p.Leu2933=) c.8588T= (p.Leu2863=) c.8234T= (p.Leu2745=) c.6131T= (p.Leu2044=) n.9081T= c.8717T= (p.Leu2906=) c.7913T= (p.Leu2638=) c.7718T= (p.Leu2573=) n.9130T= | |
5 | g.37125296A>C | CA359498791 | CPLANE1 | n.1905T>G c.8906T>G (p.Leu2969Arg) n.767T>G c.8744T>G (p.Leu2915Arg) c.5918T>G (n.5918T>G) n.4087T>G n.342-3512T>G c.5942T>G (p.Leu1981Arg) c.8903T>G (p.Leu2968Arg) c.8795T>G (p.Leu2932Arg) c.8777T>G (p.Leu2926Arg) c.5549T>G (p.Leu1850Arg) c.3479T>G (p.Leu1160Arg) c.8852T>G (p.Leu2951Arg) c.8798T>G (p.Leu2933Arg) c.8588T>G (p.Leu2863Arg) c.8234T>G (p.Leu2745Arg) c.6131T>G (p.Leu2044Arg) n.9081T>G c.8717T>G (p.Leu2906Arg) c.7913T>G (p.Leu2638Arg) c.7718T>G (p.Leu2573Arg) n.9130T>G | gnomAD v4 |
5 | g.37125296A>G | CA359498792 | CPLANE1 | n.1905T>C c.8906T>C (p.Leu2969Pro) n.767T>C c.8744T>C (p.Leu2915Pro) c.5918T>C (n.5918T>C) n.4087T>C n.342-3512T>C c.5942T>C (p.Leu1981Pro) c.8903T>C (p.Leu2968Pro) c.8795T>C (p.Leu2932Pro) c.8777T>C (p.Leu2926Pro) c.5549T>C (p.Leu1850Pro) c.3479T>C (p.Leu1160Pro) c.8852T>C (p.Leu2951Pro) c.8798T>C (p.Leu2933Pro) c.8588T>C (p.Leu2863Pro) c.8234T>C (p.Leu2745Pro) c.6131T>C (p.Leu2044Pro) n.9081T>C c.8717T>C (p.Leu2906Pro) c.7913T>C (p.Leu2638Pro) c.7718T>C (p.Leu2573Pro) n.9130T>C | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37125296A>T | CA359498796 | CPLANE1 | n.1905T>A c.8906T>A (p.Leu2969Gln) n.767T>A c.8744T>A (p.Leu2915Gln) c.5918T>A (n.5918T>A) n.4087T>A n.342-3512T>A c.5942T>A (p.Leu1981Gln) c.8903T>A (p.Leu2968Gln) c.8795T>A (p.Leu2932Gln) c.8777T>A (p.Leu2926Gln) c.5549T>A (p.Leu1850Gln) c.3479T>A (p.Leu1160Gln) c.8852T>A (p.Leu2951Gln) c.8798T>A (p.Leu2933Gln) c.8588T>A (p.Leu2863Gln) c.8234T>A (p.Leu2745Gln) c.6131T>A (p.Leu2044Gln) n.9081T>A c.8717T>A (p.Leu2906Gln) c.7913T>A (p.Leu2638Gln) c.7718T>A (p.Leu2573Gln) n.9130T>A | |
5 | g.37125297G>A | CA443922003 | CPLANE1 | n.1904C>T c.8905C>T (p.Leu2969=) n.766C>T c.8743C>T (p.Leu2915=) c.5917C>T (n.5917C>T) n.4086C>T n.342-3513C>T c.5941C>T (p.Leu1981=) c.8902C>T (p.Leu2968=) c.8794C>T (p.Leu2932=) c.8776C>T (p.Leu2926=) c.5548C>T (p.Leu1850=) c.3478C>T (p.Leu1160=) c.8851C>T (p.Leu2951=) c.8797C>T (p.Leu2933=) c.8587C>T (p.Leu2863=) c.8233C>T (p.Leu2745=) c.6130C>T (p.Leu2044=) n.9080C>T c.8716C>T (p.Leu2906=) c.7912C>T (p.Leu2638=) c.7717C>T (p.Leu2573=) n.9129C>T | gnomAD v4 |
5 | g.37125297G>C | CA359498803 | CPLANE1 | n.1904C>G c.8905C>G (p.Leu2969Val) n.766C>G c.8743C>G (p.Leu2915Val) c.5917C>G (n.5917C>G) n.4086C>G n.342-3513C>G c.5941C>G (p.Leu1981Val) c.8902C>G (p.Leu2968Val) c.8794C>G (p.Leu2932Val) c.8776C>G (p.Leu2926Val) c.5548C>G (p.Leu1850Val) c.3478C>G (p.Leu1160Val) c.8851C>G (p.Leu2951Val) c.8797C>G (p.Leu2933Val) c.8587C>G (p.Leu2863Val) c.8233C>G (p.Leu2745Val) c.6130C>G (p.Leu2044Val) n.9080C>G c.8716C>G (p.Leu2906Val) c.7912C>G (p.Leu2638Val) c.7717C>G (p.Leu2573Val) n.9129C>G | |
5 | g.37125297G= | CA1539667624 | CPLANE1 | n.1904C= c.8905C= (p.Leu2969=) n.766C= c.8743C= (p.Leu2915=) c.5917C= (n.5917C=) n.4086C= n.342-3513C= c.5941C= (p.Leu1981=) c.8902C= (p.Leu2968=) c.8794C= (p.Leu2932=) c.8776C= (p.Leu2926=) c.5548C= (p.Leu1850=) c.3478C= (p.Leu1160=) c.8851C= (p.Leu2951=) c.8797C= (p.Leu2933=) c.8587C= (p.Leu2863=) c.8233C= (p.Leu2745=) c.6130C= (p.Leu2044=) n.9080C= c.8716C= (p.Leu2906=) c.7912C= (p.Leu2638=) c.7717C= (p.Leu2573=) n.9129C= | |
5 | g.37125297G>T | CA359498812 | CPLANE1 | n.1904C>A c.8905C>A (p.Leu2969Met) n.766C>A c.8743C>A (p.Leu2915Met) c.5917C>A (n.5917C>A) n.4086C>A n.342-3513C>A c.5941C>A (p.Leu1981Met) c.8902C>A (p.Leu2968Met) c.8794C>A (p.Leu2932Met) c.8776C>A (p.Leu2926Met) c.5548C>A (p.Leu1850Met) c.3478C>A (p.Leu1160Met) c.8851C>A (p.Leu2951Met) c.8797C>A (p.Leu2933Met) c.8587C>A (p.Leu2863Met) c.8233C>A (p.Leu2745Met) c.6130C>A (p.Leu2044Met) n.9080C>A c.8716C>A (p.Leu2906Met) c.7912C>A (p.Leu2638Met) c.7717C>A (p.Leu2573Met) n.9129C>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37125298C>A | CA359498814 | CPLANE1 | n.1903G>T c.8904G>T (p.Glu2968Asp) n.765G>T c.8742G>T (p.Glu2914Asp) c.5916G>T (n.5916G>T) n.4085G>T n.342-3514G>T c.5940G>T (p.Glu1980Asp) c.8901G>T (p.Glu2967Asp) c.8793G>T (p.Glu2931Asp) c.8775G>T (p.Glu2925Asp) c.5547G>T (p.Glu1849Asp) c.3477G>T (p.Glu1159Asp) c.8850G>T (p.Glu2950Asp) c.8796G>T (p.Glu2932Asp) c.8586G>T (p.Glu2862Asp) c.8232G>T (p.Glu2744Asp) c.6129G>T (p.Glu2043Asp) n.9079G>T c.8715G>T (p.Glu2905Asp) c.7911G>T (p.Glu2637Asp) c.7716G>T (p.Glu2572Asp) n.9128G>T | |
5 | g.37125298C>G | CA359498817 | CPLANE1 | n.1903G>C c.8904G>C (p.Glu2968Asp) n.765G>C c.8742G>C (p.Glu2914Asp) c.5916G>C (n.5916G>C) n.4085G>C n.342-3514G>C c.5940G>C (p.Glu1980Asp) c.8901G>C (p.Glu2967Asp) c.8793G>C (p.Glu2931Asp) c.8775G>C (p.Glu2925Asp) c.5547G>C (p.Glu1849Asp) c.3477G>C (p.Glu1159Asp) c.8850G>C (p.Glu2950Asp) c.8796G>C (p.Glu2932Asp) c.8586G>C (p.Glu2862Asp) c.8232G>C (p.Glu2744Asp) c.6129G>C (p.Glu2043Asp) n.9079G>C c.8715G>C (p.Glu2905Asp) c.7911G>C (p.Glu2637Asp) c.7716G>C (p.Glu2572Asp) n.9128G>C | |
5 | g.37125298C>T | CA443922005 | CPLANE1 | n.1903G>A c.8904G>A (p.Glu2968=) n.765G>A c.8742G>A (p.Glu2914=) c.5916G>A (n.5916G>A) n.4085G>A n.342-3514G>A c.5940G>A (p.Glu1980=) c.8901G>A (p.Glu2967=) c.8793G>A (p.Glu2931=) c.8775G>A (p.Glu2925=) c.5547G>A (p.Glu1849=) c.3477G>A (p.Glu1159=) c.8850G>A (p.Glu2950=) c.8796G>A (p.Glu2932=) c.8586G>A (p.Glu2862=) c.8232G>A (p.Glu2744=) c.6129G>A (p.Glu2043=) n.9079G>A c.8715G>A (p.Glu2905=) c.7911G>A (p.Glu2637=) c.7716G>A (p.Glu2572=) n.9128G>A | ClinVar |
5 | g.37125299T>A | CA359498830 | CPLANE1 | n.1902A>T c.8903A>T (p.Glu2968Val) n.764A>T c.8741A>T (p.Glu2914Val) c.5915A>T (n.5915A>T) n.4084A>T n.342-3515A>T c.5939A>T (p.Glu1980Val) c.8900A>T (p.Glu2967Val) c.8792A>T (p.Glu2931Val) c.8774A>T (p.Glu2925Val) c.5546A>T (p.Glu1849Val) c.3476A>T (p.Glu1159Val) c.8849A>T (p.Glu2950Val) c.8795A>T (p.Glu2932Val) c.8585A>T (p.Glu2862Val) c.8231A>T (p.Glu2744Val) c.6128A>T (p.Glu2043Val) n.9078A>T c.8714A>T (p.Glu2905Val) c.7910A>T (p.Glu2637Val) c.7715A>T (p.Glu2572Val) n.9127A>T | |
5 | g.37125299T>C | CA359498827 | CPLANE1 | n.1902A>G c.8903A>G (p.Glu2968Gly) n.764A>G c.8741A>G (p.Glu2914Gly) c.5915A>G (n.5915A>G) n.4084A>G n.342-3515A>G c.5939A>G (p.Glu1980Gly) c.8900A>G (p.Glu2967Gly) c.8792A>G (p.Glu2931Gly) c.8774A>G (p.Glu2925Gly) c.5546A>G (p.Glu1849Gly) c.3476A>G (p.Glu1159Gly) c.8849A>G (p.Glu2950Gly) c.8795A>G (p.Glu2932Gly) c.8585A>G (p.Glu2862Gly) c.8231A>G (p.Glu2744Gly) c.6128A>G (p.Glu2043Gly) n.9078A>G c.8714A>G (p.Glu2905Gly) c.7910A>G (p.Glu2637Gly) c.7715A>G (p.Glu2572Gly) n.9127A>G | |
5 | g.37125299T>G | CA359498822 | CPLANE1 | n.1902A>C c.8903A>C (p.Glu2968Ala) n.764A>C c.8741A>C (p.Glu2914Ala) c.5915A>C (n.5915A>C) n.4084A>C n.342-3515A>C c.5939A>C (p.Glu1980Ala) c.8900A>C (p.Glu2967Ala) c.8792A>C (p.Glu2931Ala) c.8774A>C (p.Glu2925Ala) c.5546A>C (p.Glu1849Ala) c.3476A>C (p.Glu1159Ala) c.8849A>C (p.Glu2950Ala) c.8795A>C (p.Glu2932Ala) c.8585A>C (p.Glu2862Ala) c.8231A>C (p.Glu2744Ala) c.6128A>C (p.Glu2043Ala) n.9078A>C c.8714A>C (p.Glu2905Ala) c.7910A>C (p.Glu2637Ala) c.7715A>C (p.Glu2572Ala) n.9127A>C | |
5 | g.37125300C>A | CA359498834 | CPLANE1 | n.1901G>T c.8902G>T (p.Glu2968Ter) n.763G>T c.8740G>T (p.Glu2914Ter) c.5914G>T (n.5914G>T) n.4083G>T n.342-3516G>T c.5938G>T (p.Glu1980Ter) c.8899G>T (p.Glu2967Ter) c.8791G>T (p.Glu2931Ter) c.8773G>T (p.Glu2925Ter) c.5545G>T (p.Glu1849Ter) c.3475G>T (p.Glu1159Ter) c.8848G>T (p.Glu2950Ter) c.8794G>T (p.Glu2932Ter) c.8584G>T (p.Glu2862Ter) c.8230G>T (p.Glu2744Ter) c.6127G>T (p.Glu2043Ter) n.9077G>T c.8713G>T (p.Glu2905Ter) c.7909G>T (p.Glu2637Ter) c.7714G>T (p.Glu2572Ter) n.9126G>T | |
5 | g.37125300C>G | CA359498841 | CPLANE1 | n.1901G>C c.8902G>C (p.Glu2968Gln) n.763G>C c.8740G>C (p.Glu2914Gln) c.5914G>C (n.5914G>C) n.4083G>C n.342-3516G>C c.5938G>C (p.Glu1980Gln) c.8899G>C (p.Glu2967Gln) c.8791G>C (p.Glu2931Gln) c.8773G>C (p.Glu2925Gln) c.5545G>C (p.Glu1849Gln) c.3475G>C (p.Glu1159Gln) c.8848G>C (p.Glu2950Gln) c.8794G>C (p.Glu2932Gln) c.8584G>C (p.Glu2862Gln) c.8230G>C (p.Glu2744Gln) c.6127G>C (p.Glu2043Gln) n.9077G>C c.8713G>C (p.Glu2905Gln) c.7909G>C (p.Glu2637Gln) c.7714G>C (p.Glu2572Gln) n.9126G>C | |
5 | g.37125300C>T | CA359498845 | CPLANE1 | n.1901G>A c.8902G>A (p.Glu2968Lys) n.763G>A c.8740G>A (p.Glu2914Lys) c.5914G>A (n.5914G>A) n.4083G>A n.342-3516G>A c.5938G>A (p.Glu1980Lys) c.8899G>A (p.Glu2967Lys) c.8791G>A (p.Glu2931Lys) c.8773G>A (p.Glu2925Lys) c.5545G>A (p.Glu1849Lys) c.3475G>A (p.Glu1159Lys) c.8848G>A (p.Glu2950Lys) c.8794G>A (p.Glu2932Lys) c.8584G>A (p.Glu2862Lys) c.8230G>A (p.Glu2744Lys) c.6127G>A (p.Glu2043Lys) n.9077G>A c.8713G>A (p.Glu2905Lys) c.7909G>A (p.Glu2637Lys) c.7714G>A (p.Glu2572Lys) n.9126G>A | |
5 | g.37125301A= | CA1539667626 | CPLANE1 | n.1900T= c.8901T= (p.Asn2967=) n.762T= c.8739T= (p.Asn2913=) c.5913T= (n.5913T=) n.4082T= n.342-3517T= c.5937T= (p.Asn1979=) c.8898T= (p.Asn2966=) c.8790T= (p.Asn2930=) c.8772T= (p.Asn2924=) c.5544T= (p.Asn1848=) c.3474T= (p.Asn1158=) c.8847T= (p.Asn2949=) c.8793T= (p.Asn2931=) c.8583T= (p.Asn2861=) c.8229T= (p.Asn2743=) c.6126T= (p.Asn2042=) n.9076T= c.8712T= (p.Asn2904=) c.7908T= (p.Asn2636=) c.7713T= (p.Asn2571=) n.9125T= | |
5 | g.37125301A>C | CA359498852 | CPLANE1 | n.1900T>G c.8901T>G (p.Asn2967Lys) n.762T>G c.8739T>G (p.Asn2913Lys) c.5913T>G (n.5913T>G) n.4082T>G n.342-3517T>G c.5937T>G (p.Asn1979Lys) c.8898T>G (p.Asn2966Lys) c.8790T>G (p.Asn2930Lys) c.8772T>G (p.Asn2924Lys) c.5544T>G (p.Asn1848Lys) c.3474T>G (p.Asn1158Lys) c.8847T>G (p.Asn2949Lys) c.8793T>G (p.Asn2931Lys) c.8583T>G (p.Asn2861Lys) c.8229T>G (p.Asn2743Lys) c.6126T>G (p.Asn2042Lys) n.9076T>G c.8712T>G (p.Asn2904Lys) c.7908T>G (p.Asn2636Lys) c.7713T>G (p.Asn2571Lys) n.9125T>G | |
5 | g.37125301A>G | CA117059190 | CPLANE1 | n.1900T>C c.8901T>C (p.Asn2967=) n.762T>C c.8739T>C (p.Asn2913=) c.5913T>C (n.5913T>C) n.4082T>C n.342-3517T>C c.5937T>C (p.Asn1979=) c.8898T>C (p.Asn2966=) c.8790T>C (p.Asn2930=) c.8772T>C (p.Asn2924=) c.5544T>C (p.Asn1848=) c.3474T>C (p.Asn1158=) c.8847T>C (p.Asn2949=) c.8793T>C (p.Asn2931=) c.8583T>C (p.Asn2861=) c.8229T>C (p.Asn2743=) c.6126T>C (p.Asn2042=) n.9076T>C c.8712T>C (p.Asn2904=) c.7908T>C (p.Asn2636=) c.7713T>C (p.Asn2571=) n.9125T>C | dbSNP gnomAD v4 |
5 | g.37125301A>T | CA359498858 | CPLANE1 | n.1900T>A c.8901T>A (p.Asn2967Lys) n.762T>A c.8739T>A (p.Asn2913Lys) c.5913T>A (n.5913T>A) n.4082T>A n.342-3517T>A c.5937T>A (p.Asn1979Lys) c.8898T>A (p.Asn2966Lys) c.8790T>A (p.Asn2930Lys) c.8772T>A (p.Asn2924Lys) c.5544T>A (p.Asn1848Lys) c.3474T>A (p.Asn1158Lys) c.8847T>A (p.Asn2949Lys) c.8793T>A (p.Asn2931Lys) c.8583T>A (p.Asn2861Lys) c.8229T>A (p.Asn2743Lys) c.6126T>A (p.Asn2042Lys) n.9076T>A c.8712T>A (p.Asn2904Lys) c.7908T>A (p.Asn2636Lys) c.7713T>A (p.Asn2571Lys) n.9125T>A | |
5 | g.37125302T>A | CA359498861 | CPLANE1 | n.1899A>T c.8900A>T (p.Asn2967Ile) n.761A>T c.8738A>T (p.Asn2913Ile) c.5912A>T (n.5912A>T) n.4081A>T n.342-3518A>T c.5936A>T (p.Asn1979Ile) c.8897A>T (p.Asn2966Ile) c.8789A>T (p.Asn2930Ile) c.8771A>T (p.Asn2924Ile) c.5543A>T (p.Asn1848Ile) c.3473A>T (p.Asn1158Ile) c.8846A>T (p.Asn2949Ile) c.8792A>T (p.Asn2931Ile) c.8582A>T (p.Asn2861Ile) c.8228A>T (p.Asn2743Ile) c.6125A>T (p.Asn2042Ile) n.9075A>T c.8711A>T (p.Asn2904Ile) c.7907A>T (p.Asn2636Ile) c.7712A>T (p.Asn2571Ile) n.9124A>T | |
5 | g.37125302T>C | CA359498894 | CPLANE1 | n.1899A>G c.8900A>G (p.Asn2967Ser) n.761A>G c.8738A>G (p.Asn2913Ser) c.5912A>G (n.5912A>G) n.4081A>G n.342-3518A>G c.5936A>G (p.Asn1979Ser) c.8897A>G (p.Asn2966Ser) c.8789A>G (p.Asn2930Ser) c.8771A>G (p.Asn2924Ser) c.5543A>G (p.Asn1848Ser) c.3473A>G (p.Asn1158Ser) c.8846A>G (p.Asn2949Ser) c.8792A>G (p.Asn2931Ser) c.8582A>G (p.Asn2861Ser) c.8228A>G (p.Asn2743Ser) c.6125A>G (p.Asn2042Ser) n.9075A>G c.8711A>G (p.Asn2904Ser) c.7907A>G (p.Asn2636Ser) c.7712A>G (p.Asn2571Ser) n.9124A>G | |
5 | g.37125302T>G | CA359498903 | CPLANE1 | n.1899A>C c.8900A>C (p.Asn2967Thr) n.761A>C c.8738A>C (p.Asn2913Thr) c.5912A>C (n.5912A>C) n.4081A>C n.342-3518A>C c.5936A>C (p.Asn1979Thr) c.8897A>C (p.Asn2966Thr) c.8789A>C (p.Asn2930Thr) c.8771A>C (p.Asn2924Thr) c.5543A>C (p.Asn1848Thr) c.3473A>C (p.Asn1158Thr) c.8846A>C (p.Asn2949Thr) c.8792A>C (p.Asn2931Thr) c.8582A>C (p.Asn2861Thr) c.8228A>C (p.Asn2743Thr) c.6125A>C (p.Asn2042Thr) n.9075A>C c.8711A>C (p.Asn2904Thr) c.7907A>C (p.Asn2636Thr) c.7712A>C (p.Asn2571Thr) n.9124A>C | |
5 | g.37125303T>A | CA359498907 | CPLANE1 | n.1898A>T c.8899A>T (p.Asn2967Tyr) n.760A>T c.8737A>T (p.Asn2913Tyr) c.5911A>T (n.5911A>T) n.4080A>T n.342-3519A>T c.5935A>T (p.Asn1979Tyr) c.8896A>T (p.Asn2966Tyr) c.8788A>T (p.Asn2930Tyr) c.8770A>T (p.Asn2924Tyr) c.5542A>T (p.Asn1848Tyr) c.3472A>T (p.Asn1158Tyr) c.8845A>T (p.Asn2949Tyr) c.8791A>T (p.Asn2931Tyr) c.8581A>T (p.Asn2861Tyr) c.8227A>T (p.Asn2743Tyr) c.6124A>T (p.Asn2042Tyr) n.9074A>T c.8710A>T (p.Asn2904Tyr) c.7906A>T (p.Asn2636Tyr) c.7711A>T (p.Asn2571Tyr) n.9123A>T | |
5 | g.37125303T>C | CA359498911 | CPLANE1 | n.1898A>G c.8899A>G (p.Asn2967Asp) n.760A>G c.8737A>G (p.Asn2913Asp) c.5911A>G (n.5911A>G) n.4080A>G n.342-3519A>G c.5935A>G (p.Asn1979Asp) c.8896A>G (p.Asn2966Asp) c.8788A>G (p.Asn2930Asp) c.8770A>G (p.Asn2924Asp) c.5542A>G (p.Asn1848Asp) c.3472A>G (p.Asn1158Asp) c.8845A>G (p.Asn2949Asp) c.8791A>G (p.Asn2931Asp) c.8581A>G (p.Asn2861Asp) c.8227A>G (p.Asn2743Asp) c.6124A>G (p.Asn2042Asp) n.9074A>G c.8710A>G (p.Asn2904Asp) c.7906A>G (p.Asn2636Asp) c.7711A>G (p.Asn2571Asp) n.9123A>G | dbSNP gnomAD v4 |
5 | g.37125303T>G | CA359498916 | CPLANE1 | n.1898A>C c.8899A>C (p.Asn2967His) n.760A>C c.8737A>C (p.Asn2913His) c.5911A>C (n.5911A>C) n.4080A>C n.342-3519A>C c.5935A>C (p.Asn1979His) c.8896A>C (p.Asn2966His) c.8788A>C (p.Asn2930His) c.8770A>C (p.Asn2924His) c.5542A>C (p.Asn1848His) c.3472A>C (p.Asn1158His) c.8845A>C (p.Asn2949His) c.8791A>C (p.Asn2931His) c.8581A>C (p.Asn2861His) c.8227A>C (p.Asn2743His) c.6124A>C (p.Asn2042His) n.9074A>C c.8710A>C (p.Asn2904His) c.7906A>C (p.Asn2636His) c.7711A>C (p.Asn2571His) n.9123A>C | |
5 | g.37125303T= | CA1539667628 | CPLANE1 | n.1898A= c.8899A= (p.Asn2967=) n.760A= c.8737A= (p.Asn2913=) c.5911A= (n.5911A=) n.4080A= n.342-3519A= c.5935A= (p.Asn1979=) c.8896A= (p.Asn2966=) c.8788A= (p.Asn2930=) c.8770A= (p.Asn2924=) c.5542A= (p.Asn1848=) c.3472A= (p.Asn1158=) c.8845A= (p.Asn2949=) c.8791A= (p.Asn2931=) c.8581A= (p.Asn2861=) c.8227A= (p.Asn2743=) c.6124A= (p.Asn2042=) n.9074A= c.8710A= (p.Asn2904=) c.7906A= (p.Asn2636=) c.7711A= (p.Asn2571=) n.9123A= | |
5 | g.37125304T>A | CA359498920 | CPLANE1 | n.1897A>T c.8898A>T (p.Leu2966Phe) n.759A>T c.8736A>T (p.Leu2912Phe) c.5910A>T (n.5910A>T) n.4079A>T n.342-3520A>T c.5934A>T (p.Leu1978Phe) c.8895A>T (p.Leu2965Phe) c.8787A>T (p.Leu2929Phe) c.8769A>T (p.Leu2923Phe) c.5541A>T (p.Leu1847Phe) c.3471A>T (p.Leu1157Phe) c.8844A>T (p.Leu2948Phe) c.8790A>T (p.Leu2930Phe) c.8580A>T (p.Leu2860Phe) c.8226A>T (p.Leu2742Phe) c.6123A>T (p.Leu2041Phe) n.9073A>T c.8709A>T (p.Leu2903Phe) c.7905A>T (p.Leu2635Phe) c.7710A>T (p.Leu2570Phe) n.9122A>T | |
5 | g.37125304T>C | CA443922006 | CPLANE1 | n.1897A>G c.8898A>G (p.Leu2966=) n.759A>G c.8736A>G (p.Leu2912=) c.5910A>G (n.5910A>G) n.4079A>G n.342-3520A>G c.5934A>G (p.Leu1978=) c.8895A>G (p.Leu2965=) c.8787A>G (p.Leu2929=) c.8769A>G (p.Leu2923=) c.5541A>G (p.Leu1847=) c.3471A>G (p.Leu1157=) c.8844A>G (p.Leu2948=) c.8790A>G (p.Leu2930=) c.8580A>G (p.Leu2860=) c.8226A>G (p.Leu2742=) c.6123A>G (p.Leu2041=) n.9073A>G c.8709A>G (p.Leu2903=) c.7905A>G (p.Leu2635=) c.7710A>G (p.Leu2570=) n.9122A>G | |
5 | g.37125304T>G | CA359498936 | CPLANE1 | n.1897A>C c.8898A>C (p.Leu2966Phe) n.759A>C c.8736A>C (p.Leu2912Phe) c.5910A>C (n.5910A>C) n.4079A>C n.342-3520A>C c.5934A>C (p.Leu1978Phe) c.8895A>C (p.Leu2965Phe) c.8787A>C (p.Leu2929Phe) c.8769A>C (p.Leu2923Phe) c.5541A>C (p.Leu1847Phe) c.3471A>C (p.Leu1157Phe) c.8844A>C (p.Leu2948Phe) c.8790A>C (p.Leu2930Phe) c.8580A>C (p.Leu2860Phe) c.8226A>C (p.Leu2742Phe) c.6123A>C (p.Leu2041Phe) n.9073A>C c.8709A>C (p.Leu2903Phe) c.7905A>C (p.Leu2635Phe) c.7710A>C (p.Leu2570Phe) n.9122A>C | |
5 | g.37125305A>C | CA359498948 | CPLANE1 | n.1896T>G c.8897T>G (p.Leu2966Ter) n.758T>G c.8735T>G (p.Leu2912Ter) c.5909T>G (n.5909T>G) n.4078T>G n.342-3521T>G c.5933T>G (p.Leu1978Ter) c.8894T>G (p.Leu2965Ter) c.8786T>G (p.Leu2929Ter) c.8768T>G (p.Leu2923Ter) c.5540T>G (p.Leu1847Ter) c.3470T>G (p.Leu1157Ter) c.8843T>G (p.Leu2948Ter) c.8789T>G (p.Leu2930Ter) c.8579T>G (p.Leu2860Ter) c.8225T>G (p.Leu2742Ter) c.6122T>G (p.Leu2041Ter) n.9072T>G c.8708T>G (p.Leu2903Ter) c.7904T>G (p.Leu2635Ter) c.7709T>G (p.Leu2570Ter) n.9121T>G | |
5 | g.37125305A>G | CA359498945 | CPLANE1 | n.1896T>C c.8897T>C (p.Leu2966Ser) n.758T>C c.8735T>C (p.Leu2912Ser) c.5909T>C (n.5909T>C) n.4078T>C n.342-3521T>C c.5933T>C (p.Leu1978Ser) c.8894T>C (p.Leu2965Ser) c.8786T>C (p.Leu2929Ser) c.8768T>C (p.Leu2923Ser) c.5540T>C (p.Leu1847Ser) c.3470T>C (p.Leu1157Ser) c.8843T>C (p.Leu2948Ser) c.8789T>C (p.Leu2930Ser) c.8579T>C (p.Leu2860Ser) c.8225T>C (p.Leu2742Ser) c.6122T>C (p.Leu2041Ser) n.9072T>C c.8708T>C (p.Leu2903Ser) c.7904T>C (p.Leu2635Ser) c.7709T>C (p.Leu2570Ser) n.9121T>C | |
5 | g.37125305A>T | CA359498940 | CPLANE1 | n.1896T>A c.8897T>A (p.Leu2966Ter) n.758T>A c.8735T>A (p.Leu2912Ter) c.5909T>A (n.5909T>A) n.4078T>A n.342-3521T>A c.5933T>A (p.Leu1978Ter) c.8894T>A (p.Leu2965Ter) c.8786T>A (p.Leu2929Ter) c.8768T>A (p.Leu2923Ter) c.5540T>A (p.Leu1847Ter) c.3470T>A (p.Leu1157Ter) c.8843T>A (p.Leu2948Ter) c.8789T>A (p.Leu2930Ter) c.8579T>A (p.Leu2860Ter) c.8225T>A (p.Leu2742Ter) c.6122T>A (p.Leu2041Ter) n.9072T>A c.8708T>A (p.Leu2903Ter) c.7904T>A (p.Leu2635Ter) c.7709T>A (p.Leu2570Ter) n.9121T>A | |
5 | g.37125306A= | CA1539667629 | CPLANE1 | n.1895T= c.8896T= (p.Leu2966=) n.757T= c.8734T= (p.Leu2912=) c.5908T= (n.5908T=) n.4077T= n.342-3522T= c.5932T= (p.Leu1978=) c.8893T= (p.Leu2965=) c.8785T= (p.Leu2929=) c.8767T= (p.Leu2923=) c.5539T= (p.Leu1847=) c.3469T= (p.Leu1157=) c.8842T= (p.Leu2948=) c.8788T= (p.Leu2930=) c.8578T= (p.Leu2860=) c.8224T= (p.Leu2742=) c.6121T= (p.Leu2041=) n.9071T= c.8707T= (p.Leu2903=) c.7903T= (p.Leu2635=) c.7708T= (p.Leu2570=) n.9120T= | |
5 | g.37125306A>C | CA359498952 | CPLANE1 | n.1895T>G c.8896T>G (p.Leu2966Val) n.757T>G c.8734T>G (p.Leu2912Val) c.5908T>G (n.5908T>G) n.4077T>G n.342-3522T>G c.5932T>G (p.Leu1978Val) c.8893T>G (p.Leu2965Val) c.8785T>G (p.Leu2929Val) c.8767T>G (p.Leu2923Val) c.5539T>G (p.Leu1847Val) c.3469T>G (p.Leu1157Val) c.8842T>G (p.Leu2948Val) c.8788T>G (p.Leu2930Val) c.8578T>G (p.Leu2860Val) c.8224T>G (p.Leu2742Val) c.6121T>G (p.Leu2041Val) n.9071T>G c.8707T>G (p.Leu2903Val) c.7903T>G (p.Leu2635Val) c.7708T>G (p.Leu2570Val) n.9120T>G | |
5 | g.37125306A>G | CA117059194 | CPLANE1 | n.1895T>C c.8896T>C (p.Leu2966=) n.757T>C c.8734T>C (p.Leu2912=) c.5908T>C (n.5908T>C) n.4077T>C n.342-3522T>C c.5932T>C (p.Leu1978=) c.8893T>C (p.Leu2965=) c.8785T>C (p.Leu2929=) c.8767T>C (p.Leu2923=) c.5539T>C (p.Leu1847=) c.3469T>C (p.Leu1157=) c.8842T>C (p.Leu2948=) c.8788T>C (p.Leu2930=) c.8578T>C (p.Leu2860=) c.8224T>C (p.Leu2742=) c.6121T>C (p.Leu2041=) n.9071T>C c.8707T>C (p.Leu2903=) c.7903T>C (p.Leu2635=) c.7708T>C (p.Leu2570=) n.9120T>C | dbSNP gnomAD v4 |
5 | g.37125306A>T | CA359498963 | CPLANE1 | n.1895T>A c.8896T>A (p.Leu2966Ile) n.757T>A c.8734T>A (p.Leu2912Ile) c.5908T>A (n.5908T>A) n.4077T>A n.342-3522T>A c.5932T>A (p.Leu1978Ile) c.8893T>A (p.Leu2965Ile) c.8785T>A (p.Leu2929Ile) c.8767T>A (p.Leu2923Ile) c.5539T>A (p.Leu1847Ile) c.3469T>A (p.Leu1157Ile) c.8842T>A (p.Leu2948Ile) c.8788T>A (p.Leu2930Ile) c.8578T>A (p.Leu2860Ile) c.8224T>A (p.Leu2742Ile) c.6121T>A (p.Leu2041Ile) n.9071T>A c.8707T>A (p.Leu2903Ile) c.7903T>A (p.Leu2635Ile) c.7708T>A (p.Leu2570Ile) n.9120T>A | |
5 | g.37125307G>A | CA443922010 | CPLANE1 | n.1894C>T c.8895C>T (p.Tyr2965=) n.756C>T c.8733C>T (p.Tyr2911=) c.5907C>T (n.5907C>T) n.4076C>T n.342-3523C>T c.5931C>T (p.Tyr1977=) c.8892C>T (p.Tyr2964=) c.8784C>T (p.Tyr2928=) c.8766C>T (p.Tyr2922=) c.5538C>T (p.Tyr1846=) c.3468C>T (p.Tyr1156=) c.8841C>T (p.Tyr2947=) c.8787C>T (p.Tyr2929=) c.8577C>T (p.Tyr2859=) c.8223C>T (p.Tyr2741=) c.6120C>T (p.Tyr2040=) n.9070C>T c.8706C>T (p.Tyr2902=) c.7902C>T (p.Tyr2634=) c.7707C>T (p.Tyr2569=) n.9119C>T | gnomAD v4 |
5 | g.37125307G>C | CA359498973 | CPLANE1 | n.1894C>G c.8895C>G (p.Tyr2965Ter) n.756C>G c.8733C>G (p.Tyr2911Ter) c.5907C>G (n.5907C>G) n.4076C>G n.342-3523C>G c.5931C>G (p.Tyr1977Ter) c.8892C>G (p.Tyr2964Ter) c.8784C>G (p.Tyr2928Ter) c.8766C>G (p.Tyr2922Ter) c.5538C>G (p.Tyr1846Ter) c.3468C>G (p.Tyr1156Ter) c.8841C>G (p.Tyr2947Ter) c.8787C>G (p.Tyr2929Ter) c.8577C>G (p.Tyr2859Ter) c.8223C>G (p.Tyr2741Ter) c.6120C>G (p.Tyr2040Ter) n.9070C>G c.8706C>G (p.Tyr2902Ter) c.7902C>G (p.Tyr2634Ter) c.7707C>G (p.Tyr2569Ter) n.9119C>G | |
5 | g.37125307G>T | CA359498975 | CPLANE1 | n.1894C>A c.8895C>A (p.Tyr2965Ter) n.756C>A c.8733C>A (p.Tyr2911Ter) c.5907C>A (n.5907C>A) n.4076C>A n.342-3523C>A c.5931C>A (p.Tyr1977Ter) c.8892C>A (p.Tyr2964Ter) c.8784C>A (p.Tyr2928Ter) c.8766C>A (p.Tyr2922Ter) c.5538C>A (p.Tyr1846Ter) c.3468C>A (p.Tyr1156Ter) c.8841C>A (p.Tyr2947Ter) c.8787C>A (p.Tyr2929Ter) c.8577C>A (p.Tyr2859Ter) c.8223C>A (p.Tyr2741Ter) c.6120C>A (p.Tyr2040Ter) n.9070C>A c.8706C>A (p.Tyr2902Ter) c.7902C>A (p.Tyr2634Ter) c.7707C>A (p.Tyr2569Ter) n.9119C>A | gnomAD v4 |
5 | g.37125307_37125308dup | CA2739289739 | CPLANE1 | n.1893_1894dup c.8894_8895dup (p.Leu2966ThrfsTer2) n.755_756dup c.8732_8733dup (p.Leu2912ThrfsTer2) c.5906_5907dup (n.5906_5907dup) n.4075_4076dup n.342-3524_342-3523dup c.5930_5931dup (p.Leu1978ThrfsTer2) c.8891_8892dup (p.Leu2965ThrfsTer2) c.8783_8784dup (p.Leu2929ThrfsTer2) c.8765_8766dup (p.Leu2923ThrfsTer2) c.5537_5538dup (p.Leu1847ThrfsTer2) c.3467_3468dup (p.Leu1157ThrfsTer2) c.8840_8841dup (p.Leu2948ThrfsTer2) c.8786_8787dup (p.Leu2930ThrfsTer2) c.8576_8577dup (p.Leu2860ThrfsTer2) c.8222_8223dup (p.Leu2742ThrfsTer2) c.6119_6120dup (p.Leu2041ThrfsTer2) n.9069_9070dup c.8705_8706dup (p.Leu2903ThrfsTer2) c.7901_7902dup (p.Leu2635ThrfsTer2) c.7706_7707dup (p.Leu2570ThrfsTer2) n.9118_9119dup | |
5 | g.37125308T>A | CA359498981 | CPLANE1 | n.1893A>T c.8894A>T (p.Tyr2965Phe) n.755A>T c.8732A>T (p.Tyr2911Phe) c.5906A>T (n.5906A>T) n.4075A>T n.342-3524A>T c.5930A>T (p.Tyr1977Phe) c.8891A>T (p.Tyr2964Phe) c.8783A>T (p.Tyr2928Phe) c.8765A>T (p.Tyr2922Phe) c.5537A>T (p.Tyr1846Phe) c.3467A>T (p.Tyr1156Phe) c.8840A>T (p.Tyr2947Phe) c.8786A>T (p.Tyr2929Phe) c.8576A>T (p.Tyr2859Phe) c.8222A>T (p.Tyr2741Phe) c.6119A>T (p.Tyr2040Phe) n.9069A>T c.8705A>T (p.Tyr2902Phe) c.7901A>T (p.Tyr2634Phe) c.7706A>T (p.Tyr2569Phe) n.9118A>T | |
5 | g.37125308T>C | CA3237634 | CPLANE1 | n.1893A>G c.8894A>G (p.Tyr2965Cys) n.755A>G c.8732A>G (p.Tyr2911Cys) c.5906A>G (n.5906A>G) n.4075A>G n.342-3524A>G c.5930A>G (p.Tyr1977Cys) c.8891A>G (p.Tyr2964Cys) c.8783A>G (p.Tyr2928Cys) c.8765A>G (p.Tyr2922Cys) c.5537A>G (p.Tyr1846Cys) c.3467A>G (p.Tyr1156Cys) c.8840A>G (p.Tyr2947Cys) c.8786A>G (p.Tyr2929Cys) c.8576A>G (p.Tyr2859Cys) c.8222A>G (p.Tyr2741Cys) c.6119A>G (p.Tyr2040Cys) n.9069A>G c.8705A>G (p.Tyr2902Cys) c.7901A>G (p.Tyr2634Cys) c.7706A>G (p.Tyr2569Cys) n.9118A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37125308T>G | CA359498991 | CPLANE1 | n.1893A>C c.8894A>C (p.Tyr2965Ser) n.755A>C c.8732A>C (p.Tyr2911Ser) c.5906A>C (n.5906A>C) n.4075A>C n.342-3524A>C c.5930A>C (p.Tyr1977Ser) c.8891A>C (p.Tyr2964Ser) c.8783A>C (p.Tyr2928Ser) c.8765A>C (p.Tyr2922Ser) c.5537A>C (p.Tyr1846Ser) c.3467A>C (p.Tyr1156Ser) c.8840A>C (p.Tyr2947Ser) c.8786A>C (p.Tyr2929Ser) c.8576A>C (p.Tyr2859Ser) c.8222A>C (p.Tyr2741Ser) c.6119A>C (p.Tyr2040Ser) n.9069A>C c.8705A>C (p.Tyr2902Ser) c.7901A>C (p.Tyr2634Ser) c.7706A>C (p.Tyr2569Ser) n.9118A>C | |
5 | g.37125308T= | CA1539667632 | CPLANE1 | n.1893A= c.8894A= (p.Tyr2965=) n.755A= c.8732A= (p.Tyr2911=) c.5906A= (n.5906A=) n.4075A= n.342-3524A= c.5930A= (p.Tyr1977=) c.8891A= (p.Tyr2964=) c.8783A= (p.Tyr2928=) c.8765A= (p.Tyr2922=) c.5537A= (p.Tyr1846=) c.3467A= (p.Tyr1156=) c.8840A= (p.Tyr2947=) c.8786A= (p.Tyr2929=) c.8576A= (p.Tyr2859=) c.8222A= (p.Tyr2741=) c.6119A= (p.Tyr2040=) n.9069A= c.8705A= (p.Tyr2902=) c.7901A= (p.Tyr2634=) c.7706A= (p.Tyr2569=) n.9118A= | |
5 | g.37125309A>C | CA359498993 | CPLANE1 | n.1892T>G c.8893T>G (p.Tyr2965Asp) n.754T>G c.8731T>G (p.Tyr2911Asp) c.5905T>G (n.5905T>G) n.4074T>G n.342-3525T>G c.5929T>G (p.Tyr1977Asp) c.8890T>G (p.Tyr2964Asp) c.8782T>G (p.Tyr2928Asp) c.8764T>G (p.Tyr2922Asp) c.5536T>G (p.Tyr1846Asp) c.3466T>G (p.Tyr1156Asp) c.8839T>G (p.Tyr2947Asp) c.8785T>G (p.Tyr2929Asp) c.8575T>G (p.Tyr2859Asp) c.8221T>G (p.Tyr2741Asp) c.6118T>G (p.Tyr2040Asp) n.9068T>G c.8704T>G (p.Tyr2902Asp) c.7900T>G (p.Tyr2634Asp) c.7705T>G (p.Tyr2569Asp) n.9117T>G | |
5 | g.37125309A>G | CA359498996 | CPLANE1 | n.1892T>C c.8893T>C (p.Tyr2965His) n.754T>C c.8731T>C (p.Tyr2911His) c.5905T>C (n.5905T>C) n.4074T>C n.342-3525T>C c.5929T>C (p.Tyr1977His) c.8890T>C (p.Tyr2964His) c.8782T>C (p.Tyr2928His) c.8764T>C (p.Tyr2922His) c.5536T>C (p.Tyr1846His) c.3466T>C (p.Tyr1156His) c.8839T>C (p.Tyr2947His) c.8785T>C (p.Tyr2929His) c.8575T>C (p.Tyr2859His) c.8221T>C (p.Tyr2741His) c.6118T>C (p.Tyr2040His) n.9068T>C c.8704T>C (p.Tyr2902His) c.7900T>C (p.Tyr2634His) c.7705T>C (p.Tyr2569His) n.9117T>C | |
5 | g.37125309A>T | CA359498998 | CPLANE1 | n.1892T>A c.8893T>A (p.Tyr2965Asn) n.754T>A c.8731T>A (p.Tyr2911Asn) c.5905T>A (n.5905T>A) n.4074T>A n.342-3525T>A c.5929T>A (p.Tyr1977Asn) c.8890T>A (p.Tyr2964Asn) c.8782T>A (p.Tyr2928Asn) c.8764T>A (p.Tyr2922Asn) c.5536T>A (p.Tyr1846Asn) c.3466T>A (p.Tyr1156Asn) c.8839T>A (p.Tyr2947Asn) c.8785T>A (p.Tyr2929Asn) c.8575T>A (p.Tyr2859Asn) c.8221T>A (p.Tyr2741Asn) c.6118T>A (p.Tyr2040Asn) n.9068T>A c.8704T>A (p.Tyr2902Asn) c.7900T>A (p.Tyr2634Asn) c.7705T>A (p.Tyr2569Asn) n.9117T>A | |
5 | g.37125310C>A | CA359499003 | CPLANE1 | n.1891G>T c.8892G>T (p.Lys2964Asn) n.753G>T c.8730G>T (p.Lys2910Asn) c.5904G>T (n.5904G>T) n.4073G>T n.342-3526G>T c.5928G>T (p.Lys1976Asn) c.8889G>T (p.Lys2963Asn) c.8781G>T (p.Lys2927Asn) c.8763G>T (p.Lys2921Asn) c.5535G>T (p.Lys1845Asn) c.3465G>T (p.Lys1155Asn) c.8838G>T (p.Lys2946Asn) c.8784G>T (p.Lys2928Asn) c.8574G>T (p.Lys2858Asn) c.8220G>T (p.Lys2740Asn) c.6117G>T (p.Lys2039Asn) n.9067G>T c.8703G>T (p.Lys2901Asn) c.7899G>T (p.Lys2633Asn) c.7704G>T (p.Lys2568Asn) n.9116G>T | |
5 | g.37125310C= | CA1539667634 | CPLANE1 | n.1891G= c.8892G= (p.Lys2964=) n.753G= c.8730G= (p.Lys2910=) c.5904G= (n.5904G=) n.4073G= n.342-3526G= c.5928G= (p.Lys1976=) c.8889G= (p.Lys2963=) c.8781G= (p.Lys2927=) c.8763G= (p.Lys2921=) c.5535G= (p.Lys1845=) c.3465G= (p.Lys1155=) c.8838G= (p.Lys2946=) c.8784G= (p.Lys2928=) c.8574G= (p.Lys2858=) c.8220G= (p.Lys2740=) c.6117G= (p.Lys2039=) n.9067G= c.8703G= (p.Lys2901=) c.7899G= (p.Lys2633=) c.7704G= (p.Lys2568=) n.9116G= | |
5 | g.37125310C>G | CA359499004 | CPLANE1 | n.1891G>C c.8892G>C (p.Lys2964Asn) n.753G>C c.8730G>C (p.Lys2910Asn) c.5904G>C (n.5904G>C) n.4073G>C n.342-3526G>C c.5928G>C (p.Lys1976Asn) c.8889G>C (p.Lys2963Asn) c.8781G>C (p.Lys2927Asn) c.8763G>C (p.Lys2921Asn) c.5535G>C (p.Lys1845Asn) c.3465G>C (p.Lys1155Asn) c.8838G>C (p.Lys2946Asn) c.8784G>C (p.Lys2928Asn) c.8574G>C (p.Lys2858Asn) c.8220G>C (p.Lys2740Asn) c.6117G>C (p.Lys2039Asn) n.9067G>C c.8703G>C (p.Lys2901Asn) c.7899G>C (p.Lys2633Asn) c.7704G>C (p.Lys2568Asn) n.9116G>C | gnomAD v4 |
5 | g.37125310C>T | CA443922013 | CPLANE1 | n.1891G>A c.8892G>A (p.Lys2964=) n.753G>A c.8730G>A (p.Lys2910=) c.5904G>A (n.5904G>A) n.4073G>A n.342-3526G>A c.5928G>A (p.Lys1976=) c.8889G>A (p.Lys2963=) c.8781G>A (p.Lys2927=) c.8763G>A (p.Lys2921=) c.5535G>A (p.Lys1845=) c.3465G>A (p.Lys1155=) c.8838G>A (p.Lys2946=) c.8784G>A (p.Lys2928=) c.8574G>A (p.Lys2858=) c.8220G>A (p.Lys2740=) c.6117G>A (p.Lys2039=) n.9067G>A c.8703G>A (p.Lys2901=) c.7899G>A (p.Lys2633=) c.7704G>A (p.Lys2568=) n.9116G>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37125311T>A | CA359499010 | CPLANE1 | n.1890A>T c.8891A>T (p.Lys2964Met) n.752A>T c.8729A>T (p.Lys2910Met) c.5903A>T (n.5903A>T) n.4072A>T n.342-3527A>T c.5927A>T (p.Lys1976Met) c.8888A>T (p.Lys2963Met) c.8780A>T (p.Lys2927Met) c.8762A>T (p.Lys2921Met) c.5534A>T (p.Lys1845Met) c.3464A>T (p.Lys1155Met) c.8837A>T (p.Lys2946Met) c.8783A>T (p.Lys2928Met) c.8573A>T (p.Lys2858Met) c.8219A>T (p.Lys2740Met) c.6116A>T (p.Lys2039Met) n.9066A>T c.8702A>T (p.Lys2901Met) c.7898A>T (p.Lys2633Met) c.7703A>T (p.Lys2568Met) n.9115A>T | |
5 | g.37125311T>C | CA359499006 | CPLANE1 | n.1890A>G c.8891A>G (p.Lys2964Arg) n.752A>G c.8729A>G (p.Lys2910Arg) c.5903A>G (n.5903A>G) n.4072A>G n.342-3527A>G c.5927A>G (p.Lys1976Arg) c.8888A>G (p.Lys2963Arg) c.8780A>G (p.Lys2927Arg) c.8762A>G (p.Lys2921Arg) c.5534A>G (p.Lys1845Arg) c.3464A>G (p.Lys1155Arg) c.8837A>G (p.Lys2946Arg) c.8783A>G (p.Lys2928Arg) c.8573A>G (p.Lys2858Arg) c.8219A>G (p.Lys2740Arg) c.6116A>G (p.Lys2039Arg) n.9066A>G c.8702A>G (p.Lys2901Arg) c.7898A>G (p.Lys2633Arg) c.7703A>G (p.Lys2568Arg) n.9115A>G | |
5 | g.37125311T>G | CA359499005 | CPLANE1 | n.1890A>C c.8891A>C (p.Lys2964Thr) n.752A>C c.8729A>C (p.Lys2910Thr) c.5903A>C (n.5903A>C) n.4072A>C n.342-3527A>C c.5927A>C (p.Lys1976Thr) c.8888A>C (p.Lys2963Thr) c.8780A>C (p.Lys2927Thr) c.8762A>C (p.Lys2921Thr) c.5534A>C (p.Lys1845Thr) c.3464A>C (p.Lys1155Thr) c.8837A>C (p.Lys2946Thr) c.8783A>C (p.Lys2928Thr) c.8573A>C (p.Lys2858Thr) c.8219A>C (p.Lys2740Thr) c.6116A>C (p.Lys2039Thr) n.9066A>C c.8702A>C (p.Lys2901Thr) c.7898A>C (p.Lys2633Thr) c.7703A>C (p.Lys2568Thr) n.9115A>C | |
5 | g.37125312T>A | CA359499013 | CPLANE1 | n.1889A>T c.8890A>T (p.Lys2964Ter) n.751A>T c.8728A>T (p.Lys2910Ter) c.5902A>T (n.5902A>T) n.4071A>T n.342-3528A>T c.5926A>T (p.Lys1976Ter) c.8887A>T (p.Lys2963Ter) c.8779A>T (p.Lys2927Ter) c.8761A>T (p.Lys2921Ter) c.5533A>T (p.Lys1845Ter) c.3463A>T (p.Lys1155Ter) c.8836A>T (p.Lys2946Ter) c.8782A>T (p.Lys2928Ter) c.8572A>T (p.Lys2858Ter) c.8218A>T (p.Lys2740Ter) c.6115A>T (p.Lys2039Ter) n.9065A>T c.8701A>T (p.Lys2901Ter) c.7897A>T (p.Lys2633Ter) c.7702A>T (p.Lys2568Ter) n.9114A>T | |
5 | g.37125312T>C | CA359499018 | CPLANE1 | n.1889A>G c.8890A>G (p.Lys2964Glu) n.751A>G c.8728A>G (p.Lys2910Glu) c.5902A>G (n.5902A>G) n.4071A>G n.342-3528A>G c.5926A>G (p.Lys1976Glu) c.8887A>G (p.Lys2963Glu) c.8779A>G (p.Lys2927Glu) c.8761A>G (p.Lys2921Glu) c.5533A>G (p.Lys1845Glu) c.3463A>G (p.Lys1155Glu) c.8836A>G (p.Lys2946Glu) c.8782A>G (p.Lys2928Glu) c.8572A>G (p.Lys2858Glu) c.8218A>G (p.Lys2740Glu) c.6115A>G (p.Lys2039Glu) n.9065A>G c.8701A>G (p.Lys2901Glu) c.7897A>G (p.Lys2633Glu) c.7702A>G (p.Lys2568Glu) n.9114A>G | |
5 | g.37125312T>G | CA359499023 | CPLANE1 | n.1889A>C c.8890A>C (p.Lys2964Gln) n.751A>C c.8728A>C (p.Lys2910Gln) c.5902A>C (n.5902A>C) n.4071A>C n.342-3528A>C c.5926A>C (p.Lys1976Gln) c.8887A>C (p.Lys2963Gln) c.8779A>C (p.Lys2927Gln) c.8761A>C (p.Lys2921Gln) c.5533A>C (p.Lys1845Gln) c.3463A>C (p.Lys1155Gln) c.8836A>C (p.Lys2946Gln) c.8782A>C (p.Lys2928Gln) c.8572A>C (p.Lys2858Gln) c.8218A>C (p.Lys2740Gln) c.6115A>C (p.Lys2039Gln) n.9065A>C c.8701A>C (p.Lys2901Gln) c.7897A>C (p.Lys2633Gln) c.7702A>C (p.Lys2568Gln) n.9114A>C | |
5 | g.37125313T>A | CA443922015 | CPLANE1 | n.1888A>T c.8889A>T (p.Ala2963=) n.750A>T c.8727A>T (p.Ala2909=) c.5901A>T (n.5901A>T) n.4070A>T n.342-3529A>T c.5925A>T (p.Ala1975=) c.8886A>T (p.Ala2962=) c.8778A>T (p.Ala2926=) c.8760A>T (p.Ala2920=) c.5532A>T (p.Ala1844=) c.3462A>T (p.Ala1154=) c.8835A>T (p.Ala2945=) c.8781A>T (p.Ala2927=) c.8571A>T (p.Ala2857=) c.8217A>T (p.Ala2739=) c.6114A>T (p.Ala2038=) n.9064A>T c.8700A>T (p.Ala2900=) c.7896A>T (p.Ala2632=) c.7701A>T (p.Ala2567=) n.9113A>T | |
5 | g.37125313T>C | CA443922016 | CPLANE1 | n.1888A>G c.8889A>G (p.Ala2963=) n.750A>G c.8727A>G (p.Ala2909=) c.5901A>G (n.5901A>G) n.4070A>G n.342-3529A>G c.5925A>G (p.Ala1975=) c.8886A>G (p.Ala2962=) c.8778A>G (p.Ala2926=) c.8760A>G (p.Ala2920=) c.5532A>G (p.Ala1844=) c.3462A>G (p.Ala1154=) c.8835A>G (p.Ala2945=) c.8781A>G (p.Ala2927=) c.8571A>G (p.Ala2857=) c.8217A>G (p.Ala2739=) c.6114A>G (p.Ala2038=) n.9064A>G c.8700A>G (p.Ala2900=) c.7896A>G (p.Ala2632=) c.7701A>G (p.Ala2567=) n.9113A>G | |
5 | g.37125313T>G | CA443922017 | CPLANE1 | n.1888A>C c.8889A>C (p.Ala2963=) n.750A>C c.8727A>C (p.Ala2909=) c.5901A>C (n.5901A>C) n.4070A>C n.342-3529A>C c.5925A>C (p.Ala1975=) c.8886A>C (p.Ala2962=) c.8778A>C (p.Ala2926=) c.8760A>C (p.Ala2920=) c.5532A>C (p.Ala1844=) c.3462A>C (p.Ala1154=) c.8835A>C (p.Ala2945=) c.8781A>C (p.Ala2927=) c.8571A>C (p.Ala2857=) c.8217A>C (p.Ala2739=) c.6114A>C (p.Ala2038=) n.9064A>C c.8700A>C (p.Ala2900=) c.7896A>C (p.Ala2632=) c.7701A>C (p.Ala2567=) n.9113A>C | |
5 | g.37125314G>A | CA359499027 | CPLANE1 | n.1887C>T c.8888C>T (p.Ala2963Val) n.749C>T c.8726C>T (p.Ala2909Val) c.5900C>T (n.5900C>T) n.4069C>T n.342-3530C>T c.5924C>T (p.Ala1975Val) c.8885C>T (p.Ala2962Val) c.8777C>T (p.Ala2926Val) c.8759C>T (p.Ala2920Val) c.5531C>T (p.Ala1844Val) c.3461C>T (p.Ala1154Val) c.8834C>T (p.Ala2945Val) c.8780C>T (p.Ala2927Val) c.8570C>T (p.Ala2857Val) c.8216C>T (p.Ala2739Val) c.6113C>T (p.Ala2038Val) n.9063C>T c.8699C>T (p.Ala2900Val) c.7895C>T (p.Ala2632Val) c.7700C>T (p.Ala2567Val) n.9112C>T | |
5 | g.37125314G>C | CA359499035 | CPLANE1 | n.1887C>G c.8888C>G (p.Ala2963Gly) n.749C>G c.8726C>G (p.Ala2909Gly) c.5900C>G (n.5900C>G) n.4069C>G n.342-3530C>G c.5924C>G (p.Ala1975Gly) c.8885C>G (p.Ala2962Gly) c.8777C>G (p.Ala2926Gly) c.8759C>G (p.Ala2920Gly) c.5531C>G (p.Ala1844Gly) c.3461C>G (p.Ala1154Gly) c.8834C>G (p.Ala2945Gly) c.8780C>G (p.Ala2927Gly) c.8570C>G (p.Ala2857Gly) c.8216C>G (p.Ala2739Gly) c.6113C>G (p.Ala2038Gly) n.9063C>G c.8699C>G (p.Ala2900Gly) c.7895C>G (p.Ala2632Gly) c.7700C>G (p.Ala2567Gly) n.9112C>G | |
5 | g.37125314G>T | CA359499038 | CPLANE1 | n.1887C>A c.8888C>A (p.Ala2963Glu) n.749C>A c.8726C>A (p.Ala2909Glu) c.5900C>A (n.5900C>A) n.4069C>A n.342-3530C>A c.5924C>A (p.Ala1975Glu) c.8885C>A (p.Ala2962Glu) c.8777C>A (p.Ala2926Glu) c.8759C>A (p.Ala2920Glu) c.5531C>A (p.Ala1844Glu) c.3461C>A (p.Ala1154Glu) c.8834C>A (p.Ala2945Glu) c.8780C>A (p.Ala2927Glu) c.8570C>A (p.Ala2857Glu) c.8216C>A (p.Ala2739Glu) c.6113C>A (p.Ala2038Glu) n.9063C>A c.8699C>A (p.Ala2900Glu) c.7895C>A (p.Ala2632Glu) c.7700C>A (p.Ala2567Glu) n.9112C>A | |
5 | g.37125314_37125315delinsGC | CA1539667636 | CPLANE1 | n.1886_1887delinsGC c.8887_8888delinsGC (p.Ala2963=) n.748_749delinsGC c.8725_8726delinsGC (p.Ala2909=) c.5899_5900delinsGC (n.5899_5900delinsGC) n.4068_4069delinsGC n.342-3531_342-3530delinsGC c.5923_5924delinsGC (p.Ala1975=) c.8884_8885delinsGC (p.Ala2962=) c.8776_8777delinsGC (p.Ala2926=) c.8758_8759delinsGC (p.Ala2920=) c.5530_5531delinsGC (p.Ala1844=) c.3460_3461delinsGC (p.Ala1154=) c.8833_8834delinsGC (p.Ala2945=) c.8779_8780delinsGC (p.Ala2927=) c.8569_8570delinsGC (p.Ala2857=) c.8215_8216delinsGC (p.Ala2739=) c.6112_6113delinsGC (p.Ala2038=) n.9062_9063delinsGC c.8698_8699delinsGC (p.Ala2900=) c.7894_7895delinsGC (p.Ala2632=) c.7699_7700delinsGC (p.Ala2567=) n.9111_9112delinsGC | |
5 | g.37125315C>A | CA359499041 | CPLANE1 | n.1886G>T c.8887G>T (p.Ala2963Ser) n.748G>T c.8725G>T (p.Ala2909Ser) c.5899G>T (n.5899G>T) n.4068G>T n.342-3531G>T c.5923G>T (p.Ala1975Ser) c.8884G>T (p.Ala2962Ser) c.8776G>T (p.Ala2926Ser) c.8758G>T (p.Ala2920Ser) c.5530G>T (p.Ala1844Ser) c.3460G>T (p.Ala1154Ser) c.8833G>T (p.Ala2945Ser) c.8779G>T (p.Ala2927Ser) c.8569G>T (p.Ala2857Ser) c.8215G>T (p.Ala2739Ser) c.6112G>T (p.Ala2038Ser) n.9062G>T c.8698G>T (p.Ala2900Ser) c.7894G>T (p.Ala2632Ser) c.7699G>T (p.Ala2567Ser) n.9111G>T | |
5 | g.37125315C= | CA1539667640 | CPLANE1 | n.1886G= c.8887G= (p.Ala2963=) n.748G= c.8725G= (p.Ala2909=) c.5899G= (n.5899G=) n.4068G= n.342-3531G= c.5923G= (p.Ala1975=) c.8884G= (p.Ala2962=) c.8776G= (p.Ala2926=) c.8758G= (p.Ala2920=) c.5530G= (p.Ala1844=) c.3460G= (p.Ala1154=) c.8833G= (p.Ala2945=) c.8779G= (p.Ala2927=) c.8569G= (p.Ala2857=) c.8215G= (p.Ala2739=) c.6112G= (p.Ala2038=) n.9062G= c.8698G= (p.Ala2900=) c.7894G= (p.Ala2632=) c.7699G= (p.Ala2567=) n.9111G= | |
5 | g.37125315C>G | CA359499044 | CPLANE1 | n.1886G>C c.8887G>C (p.Ala2963Pro) n.748G>C c.8725G>C (p.Ala2909Pro) c.5899G>C (n.5899G>C) n.4068G>C n.342-3531G>C c.5923G>C (p.Ala1975Pro) c.8884G>C (p.Ala2962Pro) c.8776G>C (p.Ala2926Pro) c.8758G>C (p.Ala2920Pro) c.5530G>C (p.Ala1844Pro) c.3460G>C (p.Ala1154Pro) c.8833G>C (p.Ala2945Pro) c.8779G>C (p.Ala2927Pro) c.8569G>C (p.Ala2857Pro) c.8215G>C (p.Ala2739Pro) c.6112G>C (p.Ala2038Pro) n.9062G>C c.8698G>C (p.Ala2900Pro) c.7894G>C (p.Ala2632Pro) c.7699G>C (p.Ala2567Pro) n.9111G>C | |
5 | g.37125315C>T | CA359499045 | CPLANE1 | n.1886G>A c.8887G>A (p.Ala2963Thr) n.748G>A c.8725G>A (p.Ala2909Thr) c.5899G>A (n.5899G>A) n.4068G>A n.342-3531G>A c.5923G>A (p.Ala1975Thr) c.8884G>A (p.Ala2962Thr) c.8776G>A (p.Ala2926Thr) c.8758G>A (p.Ala2920Thr) c.5530G>A (p.Ala1844Thr) c.3460G>A (p.Ala1154Thr) c.8833G>A (p.Ala2945Thr) c.8779G>A (p.Ala2927Thr) c.8569G>A (p.Ala2857Thr) c.8215G>A (p.Ala2739Thr) c.6112G>A (p.Ala2038Thr) n.9062G>A c.8698G>A (p.Ala2900Thr) c.7894G>A (p.Ala2632Thr) c.7699G>A (p.Ala2567Thr) n.9111G>A | dbSNP |
5 | g.37125316del | CA277704 | CPLANE1 | n.1886del c.8887del (p.Ala2963GlnfsTer4) n.748del c.8725del (p.Ala2909GlnfsTer4) c.5899del (n.5899del) n.4068del n.342-3531del c.5923del (p.Ala1975GlnfsTer4) c.8884del (p.Ala2962GlnfsTer4) c.8776del (p.Ala2926GlnfsTer4) c.8758del (p.Ala2920GlnfsTer4) c.5530del (p.Ala1844GlnfsTer4) c.3460del (p.Ala1154GlnfsTer4) c.8833del (p.Ala2945GlnfsTer4) c.8779del (p.Ala2927GlnfsTer4) c.8569del (p.Ala2857GlnfsTer4) c.8215del (p.Ala2739GlnfsTer4) c.6112del (p.Ala2038GlnfsTer4) n.9062del c.8698del (p.Ala2900GlnfsTer4) c.7894del (p.Ala2632GlnfsTer4) c.7699del (p.Ala2567GlnfsTer4) n.9111del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37125316C>A | CA359499046 | CPLANE1 | n.1885G>T c.8886G>T (p.Met2962Ile) n.747G>T c.8724G>T (p.Met2908Ile) c.5898G>T (n.5898G>T) n.4067G>T n.342-3532G>T c.5922G>T (p.Met1974Ile) c.8883G>T (p.Met2961Ile) c.8775G>T (p.Met2925Ile) c.8757G>T (p.Met2919Ile) c.5529G>T (p.Met1843Ile) c.3459G>T (p.Met1153Ile) c.8832G>T (p.Met2944Ile) c.8778G>T (p.Met2926Ile) c.8568G>T (p.Met2856Ile) c.8214G>T (p.Met2738Ile) c.6111G>T (p.Met2037Ile) n.9061G>T c.8697G>T (p.Met2899Ile) c.7893G>T (p.Met2631Ile) c.7698G>T (p.Met2566Ile) n.9110G>T | |
5 | g.37125316C>G | CA359499047 | CPLANE1 | n.1885G>C c.8886G>C (p.Met2962Ile) n.747G>C c.8724G>C (p.Met2908Ile) c.5898G>C (n.5898G>C) n.4067G>C n.342-3532G>C c.5922G>C (p.Met1974Ile) c.8883G>C (p.Met2961Ile) c.8775G>C (p.Met2925Ile) c.8757G>C (p.Met2919Ile) c.5529G>C (p.Met1843Ile) c.3459G>C (p.Met1153Ile) c.8832G>C (p.Met2944Ile) c.8778G>C (p.Met2926Ile) c.8568G>C (p.Met2856Ile) c.8214G>C (p.Met2738Ile) c.6111G>C (p.Met2037Ile) n.9061G>C c.8697G>C (p.Met2899Ile) c.7893G>C (p.Met2631Ile) c.7698G>C (p.Met2566Ile) n.9110G>C | |
5 | g.37125316C>T | CA359499049 | CPLANE1 | n.1885G>A c.8886G>A (p.Met2962Ile) n.747G>A c.8724G>A (p.Met2908Ile) c.5898G>A (n.5898G>A) n.4067G>A n.342-3532G>A c.5922G>A (p.Met1974Ile) c.8883G>A (p.Met2961Ile) c.8775G>A (p.Met2925Ile) c.8757G>A (p.Met2919Ile) c.5529G>A (p.Met1843Ile) c.3459G>A (p.Met1153Ile) c.8832G>A (p.Met2944Ile) c.8778G>A (p.Met2926Ile) c.8568G>A (p.Met2856Ile) c.8214G>A (p.Met2738Ile) c.6111G>A (p.Met2037Ile) n.9061G>A c.8697G>A (p.Met2899Ile) c.7893G>A (p.Met2631Ile) c.7698G>A (p.Met2566Ile) n.9110G>A | |
5 | g.37125317A= | CA1539667642 | CPLANE1 | n.1884T= c.8885T= (p.Met2962=) n.746T= c.8723T= (p.Met2908=) c.5897T= (n.5897T=) n.4066T= n.342-3533T= c.5921T= (p.Met1974=) c.8882T= (p.Met2961=) c.8774T= (p.Met2925=) c.8756T= (p.Met2919=) c.5528T= (p.Met1843=) c.3458T= (p.Met1153=) c.8831T= (p.Met2944=) c.8777T= (p.Met2926=) c.8567T= (p.Met2856=) c.8213T= (p.Met2738=) c.6110T= (p.Met2037=) n.9060T= c.8696T= (p.Met2899=) c.7892T= (p.Met2631=) c.7697T= (p.Met2566=) n.9109T= | |
5 | g.37125317A>C | CA359499055 | CPLANE1 | n.1884T>G c.8885T>G (p.Met2962Arg) n.746T>G c.8723T>G (p.Met2908Arg) c.5897T>G (n.5897T>G) n.4066T>G n.342-3533T>G c.5921T>G (p.Met1974Arg) c.8882T>G (p.Met2961Arg) c.8774T>G (p.Met2925Arg) c.8756T>G (p.Met2919Arg) c.5528T>G (p.Met1843Arg) c.3458T>G (p.Met1153Arg) c.8831T>G (p.Met2944Arg) c.8777T>G (p.Met2926Arg) c.8567T>G (p.Met2856Arg) c.8213T>G (p.Met2738Arg) c.6110T>G (p.Met2037Arg) n.9060T>G c.8696T>G (p.Met2899Arg) c.7892T>G (p.Met2631Arg) c.7697T>G (p.Met2566Arg) n.9109T>G | |
5 | g.37125317A>G | CA3237635 | CPLANE1 | n.1884T>C c.8885T>C (p.Met2962Thr) n.746T>C c.8723T>C (p.Met2908Thr) c.5897T>C (n.5897T>C) n.4066T>C n.342-3533T>C c.5921T>C (p.Met1974Thr) c.8882T>C (p.Met2961Thr) c.8774T>C (p.Met2925Thr) c.8756T>C (p.Met2919Thr) c.5528T>C (p.Met1843Thr) c.3458T>C (p.Met1153Thr) c.8831T>C (p.Met2944Thr) c.8777T>C (p.Met2926Thr) c.8567T>C (p.Met2856Thr) c.8213T>C (p.Met2738Thr) c.6110T>C (p.Met2037Thr) n.9060T>C c.8696T>C (p.Met2899Thr) c.7892T>C (p.Met2631Thr) c.7697T>C (p.Met2566Thr) n.9109T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37125317A>T | CA359499051 | CPLANE1 | n.1884T>A c.8885T>A (p.Met2962Lys) n.746T>A c.8723T>A (p.Met2908Lys) c.5897T>A (n.5897T>A) n.4066T>A n.342-3533T>A c.5921T>A (p.Met1974Lys) c.8882T>A (p.Met2961Lys) c.8774T>A (p.Met2925Lys) c.8756T>A (p.Met2919Lys) c.5528T>A (p.Met1843Lys) c.3458T>A (p.Met1153Lys) c.8831T>A (p.Met2944Lys) c.8777T>A (p.Met2926Lys) c.8567T>A (p.Met2856Lys) c.8213T>A (p.Met2738Lys) c.6110T>A (p.Met2037Lys) n.9060T>A c.8696T>A (p.Met2899Lys) c.7892T>A (p.Met2631Lys) c.7697T>A (p.Met2566Lys) n.9109T>A | |
5 | g.37125318T>A | CA359499062 | CPLANE1 | n.1883A>T c.8884A>T (p.Met2962Leu) n.745A>T c.8722A>T (p.Met2908Leu) c.5896A>T (n.5896A>T) n.4065A>T n.342-3534A>T c.5920A>T (p.Met1974Leu) c.8881A>T (p.Met2961Leu) c.8773A>T (p.Met2925Leu) c.8755A>T (p.Met2919Leu) c.5527A>T (p.Met1843Leu) c.3457A>T (p.Met1153Leu) c.8830A>T (p.Met2944Leu) c.8776A>T (p.Met2926Leu) c.8566A>T (p.Met2856Leu) c.8212A>T (p.Met2738Leu) c.6109A>T (p.Met2037Leu) n.9059A>T c.8695A>T (p.Met2899Leu) c.7891A>T (p.Met2631Leu) c.7696A>T (p.Met2566Leu) n.9108A>T | gnomAD v4 |
5 | g.37125318T>C | CA359499068 | CPLANE1 | n.1883A>G c.8884A>G (p.Met2962Val) n.745A>G c.8722A>G (p.Met2908Val) c.5896A>G (n.5896A>G) n.4065A>G n.342-3534A>G c.5920A>G (p.Met1974Val) c.8881A>G (p.Met2961Val) c.8773A>G (p.Met2925Val) c.8755A>G (p.Met2919Val) c.5527A>G (p.Met1843Val) c.3457A>G (p.Met1153Val) c.8830A>G (p.Met2944Val) c.8776A>G (p.Met2926Val) c.8566A>G (p.Met2856Val) c.8212A>G (p.Met2738Val) c.6109A>G (p.Met2037Val) n.9059A>G c.8695A>G (p.Met2899Val) c.7891A>G (p.Met2631Val) c.7696A>G (p.Met2566Val) n.9108A>G | |
5 | g.37125318T>G | CA359499067 | CPLANE1 | n.1883A>C c.8884A>C (p.Met2962Leu) n.745A>C c.8722A>C (p.Met2908Leu) c.5896A>C (n.5896A>C) n.4065A>C n.342-3534A>C c.5920A>C (p.Met1974Leu) c.8881A>C (p.Met2961Leu) c.8773A>C (p.Met2925Leu) c.8755A>C (p.Met2919Leu) c.5527A>C (p.Met1843Leu) c.3457A>C (p.Met1153Leu) c.8830A>C (p.Met2944Leu) c.8776A>C (p.Met2926Leu) c.8566A>C (p.Met2856Leu) c.8212A>C (p.Met2738Leu) c.6109A>C (p.Met2037Leu) n.9059A>C c.8695A>C (p.Met2899Leu) c.7891A>C (p.Met2631Leu) c.7696A>C (p.Met2566Leu) n.9108A>C | |
5 | g.37125324_37125327del | CA645544872 | CPLANE1 | n.1880_1883del c.8881_8884del (p.Arg2961TrpfsTer5) n.742_745del c.8719_8722del (p.Arg2907TrpfsTer5) c.5893_5896del (n.5893_5896del) n.4062_4065del n.342-3537_342-3534del c.5917_5920del (p.Arg1973TrpfsTer5) c.8878_8881del (p.Arg2960TrpfsTer5) c.8770_8773del (p.Arg2924TrpfsTer5) c.8752_8755del (p.Arg2918TrpfsTer5) c.5524_5527del (p.Arg1842TrpfsTer5) c.3454_3457del (p.Arg1152TrpfsTer5) c.8827_8830del (p.Arg2943TrpfsTer5) c.8773_8776del (p.Arg2925TrpfsTer5) c.8563_8566del (p.Arg2855TrpfsTer5) c.8209_8212del (p.Arg2737TrpfsTer5) c.6106_6109del (p.Arg2036TrpfsTer5) n.9056_9059del c.8692_8695del (p.Arg2898TrpfsTer5) c.7888_7891del (p.Arg2630TrpfsTer5) c.7693_7696del (p.Arg2565TrpfsTer5) n.9105_9108del | COSMIC COSMIC |
5 | g.37125319T>A | CA359499071 | CPLANE1 | n.1882A>T c.8883A>T (p.Arg2961Ser) n.744A>T c.8721A>T (p.Arg2907Ser) c.5895A>T (n.5895A>T) n.4064A>T n.342-3535A>T c.5919A>T (p.Arg1973Ser) c.8880A>T (p.Arg2960Ser) c.8772A>T (p.Arg2924Ser) c.8754A>T (p.Arg2918Ser) c.5526A>T (p.Arg1842Ser) c.3456A>T (p.Arg1152Ser) c.8829A>T (p.Arg2943Ser) c.8775A>T (p.Arg2925Ser) c.8565A>T (p.Arg2855Ser) c.8211A>T (p.Arg2737Ser) c.6108A>T (p.Arg2036Ser) n.9058A>T c.8694A>T (p.Arg2898Ser) c.7890A>T (p.Arg2630Ser) c.7695A>T (p.Arg2565Ser) n.9107A>T | |
5 | g.37125319T>C | CA443922019 | CPLANE1 | n.1882A>G c.8883A>G (p.Arg2961=) n.744A>G c.8721A>G (p.Arg2907=) c.5895A>G (n.5895A>G) n.4064A>G n.342-3535A>G c.5919A>G (p.Arg1973=) c.8880A>G (p.Arg2960=) c.8772A>G (p.Arg2924=) c.8754A>G (p.Arg2918=) c.5526A>G (p.Arg1842=) c.3456A>G (p.Arg1152=) c.8829A>G (p.Arg2943=) c.8775A>G (p.Arg2925=) c.8565A>G (p.Arg2855=) c.8211A>G (p.Arg2737=) c.6108A>G (p.Arg2036=) n.9058A>G c.8694A>G (p.Arg2898=) c.7890A>G (p.Arg2630=) c.7695A>G (p.Arg2565=) n.9107A>G | |
5 | g.37125319T>G | CA359499074 | CPLANE1 | n.1882A>C c.8883A>C (p.Arg2961Ser) n.744A>C c.8721A>C (p.Arg2907Ser) c.5895A>C (n.5895A>C) n.4064A>C n.342-3535A>C c.5919A>C (p.Arg1973Ser) c.8880A>C (p.Arg2960Ser) c.8772A>C (p.Arg2924Ser) c.8754A>C (p.Arg2918Ser) c.5526A>C (p.Arg1842Ser) c.3456A>C (p.Arg1152Ser) c.8829A>C (p.Arg2943Ser) c.8775A>C (p.Arg2925Ser) c.8565A>C (p.Arg2855Ser) c.8211A>C (p.Arg2737Ser) c.6108A>C (p.Arg2036Ser) n.9058A>C c.8694A>C (p.Arg2898Ser) c.7890A>C (p.Arg2630Ser) c.7695A>C (p.Arg2565Ser) n.9107A>C | |
5 | g.37125320C>A | CA359499080 | CPLANE1 | n.1881G>T c.8882G>T (p.Arg2961Ile) n.743G>T c.8720G>T (p.Arg2907Ile) c.5894G>T (n.5894G>T) n.4063G>T n.342-3536G>T c.5918G>T (p.Arg1973Ile) c.8879G>T (p.Arg2960Ile) c.8771G>T (p.Arg2924Ile) c.8753G>T (p.Arg2918Ile) c.5525G>T (p.Arg1842Ile) c.3455G>T (p.Arg1152Ile) c.8828G>T (p.Arg2943Ile) c.8774G>T (p.Arg2925Ile) c.8564G>T (p.Arg2855Ile) c.8210G>T (p.Arg2737Ile) c.6107G>T (p.Arg2036Ile) n.9057G>T c.8693G>T (p.Arg2898Ile) c.7889G>T (p.Arg2630Ile) c.7694G>T (p.Arg2565Ile) n.9106G>T | |
5 | g.37125320C>G | CA359499082 | CPLANE1 | n.1881G>C c.8882G>C (p.Arg2961Thr) n.743G>C c.8720G>C (p.Arg2907Thr) c.5894G>C (n.5894G>C) n.4063G>C n.342-3536G>C c.5918G>C (p.Arg1973Thr) c.8879G>C (p.Arg2960Thr) c.8771G>C (p.Arg2924Thr) c.8753G>C (p.Arg2918Thr) c.5525G>C (p.Arg1842Thr) c.3455G>C (p.Arg1152Thr) c.8828G>C (p.Arg2943Thr) c.8774G>C (p.Arg2925Thr) c.8564G>C (p.Arg2855Thr) c.8210G>C (p.Arg2737Thr) c.6107G>C (p.Arg2036Thr) n.9057G>C c.8693G>C (p.Arg2898Thr) c.7889G>C (p.Arg2630Thr) c.7694G>C (p.Arg2565Thr) n.9106G>C | gnomAD v4 |
5 | g.37125320C>T | CA359499085 | CPLANE1 | n.1881G>A c.8882G>A (p.Arg2961Lys) n.743G>A c.8720G>A (p.Arg2907Lys) c.5894G>A (n.5894G>A) n.4063G>A n.342-3536G>A c.5918G>A (p.Arg1973Lys) c.8879G>A (p.Arg2960Lys) c.8771G>A (p.Arg2924Lys) c.8753G>A (p.Arg2918Lys) c.5525G>A (p.Arg1842Lys) c.3455G>A (p.Arg1152Lys) c.8828G>A (p.Arg2943Lys) c.8774G>A (p.Arg2925Lys) c.8564G>A (p.Arg2855Lys) c.8210G>A (p.Arg2737Lys) c.6107G>A (p.Arg2036Lys) n.9057G>A c.8693G>A (p.Arg2898Lys) c.7889G>A (p.Arg2630Lys) c.7694G>A (p.Arg2565Lys) n.9106G>A | |
5 | g.37125321T>A | CA359499087 | CPLANE1 | n.1880A>T c.8881A>T (p.Arg2961Ter) n.742A>T c.8719A>T (p.Arg2907Ter) c.5893A>T (n.5893A>T) n.4062A>T n.342-3537A>T c.5917A>T (p.Arg1973Ter) c.8878A>T (p.Arg2960Ter) c.8770A>T (p.Arg2924Ter) c.8752A>T (p.Arg2918Ter) c.5524A>T (p.Arg1842Ter) c.3454A>T (p.Arg1152Ter) c.8827A>T (p.Arg2943Ter) c.8773A>T (p.Arg2925Ter) c.8563A>T (p.Arg2855Ter) c.8209A>T (p.Arg2737Ter) c.6106A>T (p.Arg2036Ter) n.9056A>T c.8692A>T (p.Arg2898Ter) c.7888A>T (p.Arg2630Ter) c.7693A>T (p.Arg2565Ter) n.9105A>T | |
5 | g.37125321T>C | CA3237636 | CPLANE1 | n.1880A>G c.8881A>G (p.Arg2961Gly) n.742A>G c.8719A>G (p.Arg2907Gly) c.5893A>G (n.5893A>G) n.4062A>G n.342-3537A>G c.5917A>G (p.Arg1973Gly) c.8878A>G (p.Arg2960Gly) c.8770A>G (p.Arg2924Gly) c.8752A>G (p.Arg2918Gly) c.5524A>G (p.Arg1842Gly) c.3454A>G (p.Arg1152Gly) c.8827A>G (p.Arg2943Gly) c.8773A>G (p.Arg2925Gly) c.8563A>G (p.Arg2855Gly) c.8209A>G (p.Arg2737Gly) c.6106A>G (p.Arg2036Gly) n.9056A>G c.8692A>G (p.Arg2898Gly) c.7888A>G (p.Arg2630Gly) c.7693A>G (p.Arg2565Gly) n.9105A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37125321T>G | CA443922020 | CPLANE1 | n.1880A>C c.8881A>C (p.Arg2961=) n.742A>C c.8719A>C (p.Arg2907=) c.5893A>C (n.5893A>C) n.4062A>C n.342-3537A>C c.5917A>C (p.Arg1973=) c.8878A>C (p.Arg2960=) c.8770A>C (p.Arg2924=) c.8752A>C (p.Arg2918=) c.5524A>C (p.Arg1842=) c.3454A>C (p.Arg1152=) c.8827A>C (p.Arg2943=) c.8773A>C (p.Arg2925=) c.8563A>C (p.Arg2855=) c.8209A>C (p.Arg2737=) c.6106A>C (p.Arg2036=) n.9056A>C c.8692A>C (p.Arg2898=) c.7888A>C (p.Arg2630=) c.7693A>C (p.Arg2565=) n.9105A>C | |
5 | g.37125321T= | CA1539667644 | CPLANE1 | n.1880A= c.8881A= (p.Arg2961=) n.742A= c.8719A= (p.Arg2907=) c.5893A= (n.5893A=) n.4062A= n.342-3537A= c.5917A= (p.Arg1973=) c.8878A= (p.Arg2960=) c.8770A= (p.Arg2924=) c.8752A= (p.Arg2918=) c.5524A= (p.Arg1842=) c.3454A= (p.Arg1152=) c.8827A= (p.Arg2943=) c.8773A= (p.Arg2925=) c.8563A= (p.Arg2855=) c.8209A= (p.Arg2737=) c.6106A= (p.Arg2036=) n.9056A= c.8692A= (p.Arg2898=) c.7888A= (p.Arg2630=) c.7693A= (p.Arg2565=) n.9105A= | |
5 | g.37125323del | CA2673580098 | CPLANE1 | n.1880del c.8881del (p.Arg2961GlufsTer6) n.742del c.8719del (p.Arg2907GlufsTer6) c.5893del (n.5893del) n.4062del n.342-3537del c.5917del (p.Arg1973GlufsTer6) c.8878del (p.Arg2960GlufsTer6) c.8770del (p.Arg2924GlufsTer6) c.8752del (p.Arg2918GlufsTer6) c.5524del (p.Arg1842GlufsTer6) c.3454del (p.Arg1152GlufsTer6) c.8827del (p.Arg2943GlufsTer6) c.8773del (p.Arg2925GlufsTer6) c.8563del (p.Arg2855GlufsTer6) c.8209del (p.Arg2737GlufsTer6) c.6106del (p.Arg2036GlufsTer6) n.9056del c.8692del (p.Arg2898GlufsTer6) c.7888del (p.Arg2630GlufsTer6) c.7693del (p.Arg2565GlufsTer6) n.9105del | gnomAD v4 |
5 | g.37125322T>A | CA359499089 | CPLANE1 | n.1879A>T c.8880A>T (p.Glu2960Asp) n.741A>T c.8718A>T (p.Glu2906Asp) c.5892A>T (n.5892A>T) n.4061A>T n.342-3538A>T c.5916A>T (p.Glu1972Asp) c.8877A>T (p.Glu2959Asp) c.8769A>T (p.Glu2923Asp) c.8751A>T (p.Glu2917Asp) c.5523A>T (p.Glu1841Asp) c.3453A>T (p.Glu1151Asp) c.8826A>T (p.Glu2942Asp) c.8772A>T (p.Glu2924Asp) c.8562A>T (p.Glu2854Asp) c.8208A>T (p.Glu2736Asp) c.6105A>T (p.Glu2035Asp) n.9055A>T c.8691A>T (p.Glu2897Asp) c.7887A>T (p.Glu2629Asp) c.7692A>T (p.Glu2564Asp) n.9104A>T | |
5 | g.37125322T>C | CA443922021 | CPLANE1 | n.1879A>G c.8880A>G (p.Glu2960=) n.741A>G c.8718A>G (p.Glu2906=) c.5892A>G (n.5892A>G) n.4061A>G n.342-3538A>G c.5916A>G (p.Glu1972=) c.8877A>G (p.Glu2959=) c.8769A>G (p.Glu2923=) c.8751A>G (p.Glu2917=) c.5523A>G (p.Glu1841=) c.3453A>G (p.Glu1151=) c.8826A>G (p.Glu2942=) c.8772A>G (p.Glu2924=) c.8562A>G (p.Glu2854=) c.8208A>G (p.Glu2736=) c.6105A>G (p.Glu2035=) n.9055A>G c.8691A>G (p.Glu2897=) c.7887A>G (p.Glu2629=) c.7692A>G (p.Glu2564=) n.9104A>G | |
5 | g.37125322T>G | CA359499092 | CPLANE1 | n.1879A>C c.8880A>C (p.Glu2960Asp) n.741A>C c.8718A>C (p.Glu2906Asp) c.5892A>C (n.5892A>C) n.4061A>C n.342-3538A>C c.5916A>C (p.Glu1972Asp) c.8877A>C (p.Glu2959Asp) c.8769A>C (p.Glu2923Asp) c.8751A>C (p.Glu2917Asp) c.5523A>C (p.Glu1841Asp) c.3453A>C (p.Glu1151Asp) c.8826A>C (p.Glu2942Asp) c.8772A>C (p.Glu2924Asp) c.8562A>C (p.Glu2854Asp) c.8208A>C (p.Glu2736Asp) c.6105A>C (p.Glu2035Asp) n.9055A>C c.8691A>C (p.Glu2897Asp) c.7887A>C (p.Glu2629Asp) c.7692A>C (p.Glu2564Asp) n.9104A>C | |
5 | g.37125323T>A | CA359499095 | CPLANE1 | n.1878A>T c.8879A>T (p.Glu2960Val) n.740A>T c.8717A>T (p.Glu2906Val) c.5891A>T (n.5891A>T) n.4060A>T n.342-3539A>T c.5915A>T (p.Glu1972Val) c.8876A>T (p.Glu2959Val) c.8768A>T (p.Glu2923Val) c.8750A>T (p.Glu2917Val) c.5522A>T (p.Glu1841Val) c.3452A>T (p.Glu1151Val) c.8825A>T (p.Glu2942Val) c.8771A>T (p.Glu2924Val) c.8561A>T (p.Glu2854Val) c.8207A>T (p.Glu2736Val) c.6104A>T (p.Glu2035Val) n.9054A>T c.8690A>T (p.Glu2897Val) c.7886A>T (p.Glu2629Val) c.7691A>T (p.Glu2564Val) n.9103A>T | |
5 | g.37125323T>C | CA359499100 | CPLANE1 | n.1878A>G c.8879A>G (p.Glu2960Gly) n.740A>G c.8717A>G (p.Glu2906Gly) c.5891A>G (n.5891A>G) n.4060A>G n.342-3539A>G c.5915A>G (p.Glu1972Gly) c.8876A>G (p.Glu2959Gly) c.8768A>G (p.Glu2923Gly) c.8750A>G (p.Glu2917Gly) c.5522A>G (p.Glu1841Gly) c.3452A>G (p.Glu1151Gly) c.8825A>G (p.Glu2942Gly) c.8771A>G (p.Glu2924Gly) c.8561A>G (p.Glu2854Gly) c.8207A>G (p.Glu2736Gly) c.6104A>G (p.Glu2035Gly) n.9054A>G c.8690A>G (p.Glu2897Gly) c.7886A>G (p.Glu2629Gly) c.7691A>G (p.Glu2564Gly) n.9103A>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37125323T>G | CA359499102 | CPLANE1 | n.1878A>C c.8879A>C (p.Glu2960Ala) n.740A>C c.8717A>C (p.Glu2906Ala) c.5891A>C (n.5891A>C) n.4060A>C n.342-3539A>C c.5915A>C (p.Glu1972Ala) c.8876A>C (p.Glu2959Ala) c.8768A>C (p.Glu2923Ala) c.8750A>C (p.Glu2917Ala) c.5522A>C (p.Glu1841Ala) c.3452A>C (p.Glu1151Ala) c.8825A>C (p.Glu2942Ala) c.8771A>C (p.Glu2924Ala) c.8561A>C (p.Glu2854Ala) c.8207A>C (p.Glu2736Ala) c.6104A>C (p.Glu2035Ala) n.9054A>C c.8690A>C (p.Glu2897Ala) c.7886A>C (p.Glu2629Ala) c.7691A>C (p.Glu2564Ala) n.9103A>C | |
5 | g.37125323T= | CA1539667647 | CPLANE1 | n.1878A= c.8879A= (p.Glu2960=) n.740A= c.8717A= (p.Glu2906=) c.5891A= (n.5891A=) n.4060A= n.342-3539A= c.5915A= (p.Glu1972=) c.8876A= (p.Glu2959=) c.8768A= (p.Glu2923=) c.8750A= (p.Glu2917=) c.5522A= (p.Glu1841=) c.3452A= (p.Glu1151=) c.8825A= (p.Glu2942=) c.8771A= (p.Glu2924=) c.8561A= (p.Glu2854=) c.8207A= (p.Glu2736=) c.6104A= (p.Glu2035=) n.9054A= c.8690A= (p.Glu2897=) c.7886A= (p.Glu2629=) c.7691A= (p.Glu2564=) n.9103A= | |
5 | g.37125324C>A | CA279349 | CPLANE1 | n.1877G>T c.8878G>T (p.Glu2960Ter) n.739G>T c.8716G>T (p.Glu2906Ter) c.5890G>T (n.5890G>T) n.4059G>T n.342-3540G>T c.5914G>T (p.Glu1972Ter) c.8875G>T (p.Glu2959Ter) c.8767G>T (p.Glu2923Ter) c.8749G>T (p.Glu2917Ter) c.5521G>T (p.Glu1841Ter) c.3451G>T (p.Glu1151Ter) c.8824G>T (p.Glu2942Ter) c.8770G>T (p.Glu2924Ter) c.8560G>T (p.Glu2854Ter) c.8206G>T (p.Glu2736Ter) c.6103G>T (p.Glu2035Ter) n.9053G>T c.8689G>T (p.Glu2897Ter) c.7885G>T (p.Glu2629Ter) c.7690G>T (p.Glu2564Ter) n.9102G>T | ClinVar dbSNP COSMIC COSMIC |
5 | g.37125324C= | CA1539667650 | CPLANE1 | n.1877G= c.8878G= (p.Glu2960=) n.739G= c.8716G= (p.Glu2906=) c.5890G= (n.5890G=) n.4059G= n.342-3540G= c.5914G= (p.Glu1972=) c.8875G= (p.Glu2959=) c.8767G= (p.Glu2923=) c.8749G= (p.Glu2917=) c.5521G= (p.Glu1841=) c.3451G= (p.Glu1151=) c.8824G= (p.Glu2942=) c.8770G= (p.Glu2924=) c.8560G= (p.Glu2854=) c.8206G= (p.Glu2736=) c.6103G= (p.Glu2035=) n.9053G= c.8689G= (p.Glu2897=) c.7885G= (p.Glu2629=) c.7690G= (p.Glu2564=) n.9102G= | |
5 | g.37125324C>G | CA359499108 | CPLANE1 | n.1877G>C c.8878G>C (p.Glu2960Gln) n.739G>C c.8716G>C (p.Glu2906Gln) c.5890G>C (n.5890G>C) n.4059G>C n.342-3540G>C c.5914G>C (p.Glu1972Gln) c.8875G>C (p.Glu2959Gln) c.8767G>C (p.Glu2923Gln) c.8749G>C (p.Glu2917Gln) c.5521G>C (p.Glu1841Gln) c.3451G>C (p.Glu1151Gln) c.8824G>C (p.Glu2942Gln) c.8770G>C (p.Glu2924Gln) c.8560G>C (p.Glu2854Gln) c.8206G>C (p.Glu2736Gln) c.6103G>C (p.Glu2035Gln) n.9053G>C c.8689G>C (p.Glu2897Gln) c.7885G>C (p.Glu2629Gln) c.7690G>C (p.Glu2564Gln) n.9102G>C | |
5 | g.37125324C>T | CA359499116 | CPLANE1 | n.1877G>A c.8878G>A (p.Glu2960Lys) n.739G>A c.8716G>A (p.Glu2906Lys) c.5890G>A (n.5890G>A) n.4059G>A n.342-3540G>A c.5914G>A (p.Glu1972Lys) c.8875G>A (p.Glu2959Lys) c.8767G>A (p.Glu2923Lys) c.8749G>A (p.Glu2917Lys) c.5521G>A (p.Glu1841Lys) c.3451G>A (p.Glu1151Lys) c.8824G>A (p.Glu2942Lys) c.8770G>A (p.Glu2924Lys) c.8560G>A (p.Glu2854Lys) c.8206G>A (p.Glu2736Lys) c.6103G>A (p.Glu2035Lys) n.9053G>A c.8689G>A (p.Glu2897Lys) c.7885G>A (p.Glu2629Lys) c.7690G>A (p.Glu2564Lys) n.9102G>A | |
5 | g.37125325T>A | CA359499120 | CPLANE1 | n.1876A>T c.8877A>T (p.Lys2959Asn) n.738A>T c.8715A>T (p.Lys2905Asn) c.5889A>T (n.5889A>T) n.4058A>T n.342-3541A>T c.5913A>T (p.Lys1971Asn) c.8874A>T (p.Lys2958Asn) c.8766A>T (p.Lys2922Asn) c.8748A>T (p.Lys2916Asn) c.5520A>T (p.Lys1840Asn) c.3450A>T (p.Lys1150Asn) c.8823A>T (p.Lys2941Asn) c.8769A>T (p.Lys2923Asn) c.8559A>T (p.Lys2853Asn) c.8205A>T (p.Lys2735Asn) c.6102A>T (p.Lys2034Asn) n.9052A>T c.8688A>T (p.Lys2896Asn) c.7884A>T (p.Lys2628Asn) c.7689A>T (p.Lys2563Asn) n.9101A>T | |
5 | g.37125325T>C | CA443922023 | CPLANE1 | n.1876A>G c.8877A>G (p.Lys2959=) n.738A>G c.8715A>G (p.Lys2905=) c.5889A>G (n.5889A>G) n.4058A>G n.342-3541A>G c.5913A>G (p.Lys1971=) c.8874A>G (p.Lys2958=) c.8766A>G (p.Lys2922=) c.8748A>G (p.Lys2916=) c.5520A>G (p.Lys1840=) c.3450A>G (p.Lys1150=) c.8823A>G (p.Lys2941=) c.8769A>G (p.Lys2923=) c.8559A>G (p.Lys2853=) c.8205A>G (p.Lys2735=) c.6102A>G (p.Lys2034=) n.9052A>G c.8688A>G (p.Lys2896=) c.7884A>G (p.Lys2628=) c.7689A>G (p.Lys2563=) n.9101A>G | gnomAD v4 |
5 | g.37125325T>G | CA117059236 | CPLANE1 | n.1876A>C c.8877A>C (p.Lys2959Asn) n.738A>C c.8715A>C (p.Lys2905Asn) c.5889A>C (n.5889A>C) n.4058A>C n.342-3541A>C c.5913A>C (p.Lys1971Asn) c.8874A>C (p.Lys2958Asn) c.8766A>C (p.Lys2922Asn) c.8748A>C (p.Lys2916Asn) c.5520A>C (p.Lys1840Asn) c.3450A>C (p.Lys1150Asn) c.8823A>C (p.Lys2941Asn) c.8769A>C (p.Lys2923Asn) c.8559A>C (p.Lys2853Asn) c.8205A>C (p.Lys2735Asn) c.6102A>C (p.Lys2034Asn) n.9052A>C c.8688A>C (p.Lys2896Asn) c.7884A>C (p.Lys2628Asn) c.7689A>C (p.Lys2563Asn) n.9101A>C | dbSNP |
5 | g.37125325T= | CA1539667653 | CPLANE1 | n.1876A= c.8877A= (p.Lys2959=) n.738A= c.8715A= (p.Lys2905=) c.5889A= (n.5889A=) n.4058A= n.342-3541A= c.5913A= (p.Lys1971=) c.8874A= (p.Lys2958=) c.8766A= (p.Lys2922=) c.8748A= (p.Lys2916=) c.5520A= (p.Lys1840=) c.3450A= (p.Lys1150=) c.8823A= (p.Lys2941=) c.8769A= (p.Lys2923=) c.8559A= (p.Lys2853=) c.8205A= (p.Lys2735=) c.6102A= (p.Lys2034=) n.9052A= c.8688A= (p.Lys2896=) c.7884A= (p.Lys2628=) c.7689A= (p.Lys2563=) n.9101A= | |
5 | g.37125326T>A | CA359499126 | CPLANE1 | n.1875A>T c.8876A>T (p.Lys2959Ile) n.737A>T c.8714A>T (p.Lys2905Ile) c.5888A>T (n.5888A>T) n.4057A>T n.342-3542A>T c.5912A>T (p.Lys1971Ile) c.8873A>T (p.Lys2958Ile) c.8765A>T (p.Lys2922Ile) c.8747A>T (p.Lys2916Ile) c.5519A>T (p.Lys1840Ile) c.3449A>T (p.Lys1150Ile) c.8822A>T (p.Lys2941Ile) c.8768A>T (p.Lys2923Ile) c.8558A>T (p.Lys2853Ile) c.8204A>T (p.Lys2735Ile) c.6101A>T (p.Lys2034Ile) n.9051A>T c.8687A>T (p.Lys2896Ile) c.7883A>T (p.Lys2628Ile) c.7688A>T (p.Lys2563Ile) n.9100A>T | |
5 | g.37125326T>C | CA359499127 | CPLANE1 | n.1875A>G c.8876A>G (p.Lys2959Arg) n.737A>G c.8714A>G (p.Lys2905Arg) c.5888A>G (n.5888A>G) n.4057A>G n.342-3542A>G c.5912A>G (p.Lys1971Arg) c.8873A>G (p.Lys2958Arg) c.8765A>G (p.Lys2922Arg) c.8747A>G (p.Lys2916Arg) c.5519A>G (p.Lys1840Arg) c.3449A>G (p.Lys1150Arg) c.8822A>G (p.Lys2941Arg) c.8768A>G (p.Lys2923Arg) c.8558A>G (p.Lys2853Arg) c.8204A>G (p.Lys2735Arg) c.6101A>G (p.Lys2034Arg) n.9051A>G c.8687A>G (p.Lys2896Arg) c.7883A>G (p.Lys2628Arg) c.7688A>G (p.Lys2563Arg) n.9100A>G | |
5 | g.37125326T>G | CA359499133 | CPLANE1 | n.1875A>C c.8876A>C (p.Lys2959Thr) n.737A>C c.8714A>C (p.Lys2905Thr) c.5888A>C (n.5888A>C) n.4057A>C n.342-3542A>C c.5912A>C (p.Lys1971Thr) c.8873A>C (p.Lys2958Thr) c.8765A>C (p.Lys2922Thr) c.8747A>C (p.Lys2916Thr) c.5519A>C (p.Lys1840Thr) c.3449A>C (p.Lys1150Thr) c.8822A>C (p.Lys2941Thr) c.8768A>C (p.Lys2923Thr) c.8558A>C (p.Lys2853Thr) c.8204A>C (p.Lys2735Thr) c.6101A>C (p.Lys2034Thr) n.9051A>C c.8687A>C (p.Lys2896Thr) c.7883A>C (p.Lys2628Thr) c.7688A>C (p.Lys2563Thr) n.9100A>C | |
5 | g.37125327T>A | CA359499136 | CPLANE1 | n.1874A>T c.8875A>T (p.Lys2959Ter) n.736A>T c.8713A>T (p.Lys2905Ter) c.5887A>T (n.5887A>T) n.4056A>T n.342-3543A>T c.5911A>T (p.Lys1971Ter) c.8872A>T (p.Lys2958Ter) c.8764A>T (p.Lys2922Ter) c.8746A>T (p.Lys2916Ter) c.5518A>T (p.Lys1840Ter) c.3448A>T (p.Lys1150Ter) c.8821A>T (p.Lys2941Ter) c.8767A>T (p.Lys2923Ter) c.8557A>T (p.Lys2853Ter) c.8203A>T (p.Lys2735Ter) c.6100A>T (p.Lys2034Ter) n.9050A>T c.8686A>T (p.Lys2896Ter) c.7882A>T (p.Lys2628Ter) c.7687A>T (p.Lys2563Ter) n.9099A>T | |
5 | g.37125327T>C | CA359499143 | CPLANE1 | n.1874A>G c.8875A>G (p.Lys2959Glu) n.736A>G c.8713A>G (p.Lys2905Glu) c.5887A>G (n.5887A>G) n.4056A>G n.342-3543A>G c.5911A>G (p.Lys1971Glu) c.8872A>G (p.Lys2958Glu) c.8764A>G (p.Lys2922Glu) c.8746A>G (p.Lys2916Glu) c.5518A>G (p.Lys1840Glu) c.3448A>G (p.Lys1150Glu) c.8821A>G (p.Lys2941Glu) c.8767A>G (p.Lys2923Glu) c.8557A>G (p.Lys2853Glu) c.8203A>G (p.Lys2735Glu) c.6100A>G (p.Lys2034Glu) n.9050A>G c.8686A>G (p.Lys2896Glu) c.7882A>G (p.Lys2628Glu) c.7687A>G (p.Lys2563Glu) n.9099A>G | |
5 | g.37125327T>G | CA359499146 | CPLANE1 | n.1874A>C c.8875A>C (p.Lys2959Gln) n.736A>C c.8713A>C (p.Lys2905Gln) c.5887A>C (n.5887A>C) n.4056A>C n.342-3543A>C c.5911A>C (p.Lys1971Gln) c.8872A>C (p.Lys2958Gln) c.8764A>C (p.Lys2922Gln) c.8746A>C (p.Lys2916Gln) c.5518A>C (p.Lys1840Gln) c.3448A>C (p.Lys1150Gln) c.8821A>C (p.Lys2941Gln) c.8767A>C (p.Lys2923Gln) c.8557A>C (p.Lys2853Gln) c.8203A>C (p.Lys2735Gln) c.6100A>C (p.Lys2034Gln) n.9050A>C c.8686A>C (p.Lys2896Gln) c.7882A>C (p.Lys2628Gln) c.7687A>C (p.Lys2563Gln) n.9099A>C | |
5 | g.37125328T>A | CA443922025 | CPLANE1 | n.1873A>T c.8874A>T (p.Arg2958=) n.735A>T c.8712A>T (p.Arg2904=) c.5886A>T (n.5886A>T) n.4055A>T n.342-3544A>T c.5910A>T (p.Arg1970=) c.8871A>T (p.Arg2957=) c.8763A>T (p.Arg2921=) c.8745A>T (p.Arg2915=) c.5517A>T (p.Arg1839=) c.3447A>T (p.Arg1149=) c.8820A>T (p.Arg2940=) c.8766A>T (p.Arg2922=) c.8556A>T (p.Arg2852=) c.8202A>T (p.Arg2734=) c.6099A>T (p.Arg2033=) n.9049A>T c.8685A>T (p.Arg2895=) c.7881A>T (p.Arg2627=) c.7686A>T (p.Arg2562=) n.9098A>T | |
5 | g.37125328T>C | CA443922027 | CPLANE1 | n.1873A>G c.8874A>G (p.Arg2958=) n.735A>G c.8712A>G (p.Arg2904=) c.5886A>G (n.5886A>G) n.4055A>G n.342-3544A>G c.5910A>G (p.Arg1970=) c.8871A>G (p.Arg2957=) c.8763A>G (p.Arg2921=) c.8745A>G (p.Arg2915=) c.5517A>G (p.Arg1839=) c.3447A>G (p.Arg1149=) c.8820A>G (p.Arg2940=) c.8766A>G (p.Arg2922=) c.8556A>G (p.Arg2852=) c.8202A>G (p.Arg2734=) c.6099A>G (p.Arg2033=) n.9049A>G c.8685A>G (p.Arg2895=) c.7881A>G (p.Arg2627=) c.7686A>G (p.Arg2562=) n.9098A>G | ClinVar dbSNP gnomAD v4 |
5 | g.37125328T>G | CA443922026 | CPLANE1 | n.1873A>C c.8874A>C (p.Arg2958=) n.735A>C c.8712A>C (p.Arg2904=) c.5886A>C (n.5886A>C) n.4055A>C n.342-3544A>C c.5910A>C (p.Arg1970=) c.8871A>C (p.Arg2957=) c.8763A>C (p.Arg2921=) c.8745A>C (p.Arg2915=) c.5517A>C (p.Arg1839=) c.3447A>C (p.Arg1149=) c.8820A>C (p.Arg2940=) c.8766A>C (p.Arg2922=) c.8556A>C (p.Arg2852=) c.8202A>C (p.Arg2734=) c.6099A>C (p.Arg2033=) n.9049A>C c.8685A>C (p.Arg2895=) c.7881A>C (p.Arg2627=) c.7686A>C (p.Arg2562=) n.9098A>C | |
5 | g.37125329C>A | CA359499147 | CPLANE1 | n.1872G>T c.8873G>T (p.Arg2958Leu) n.734G>T c.8711G>T (p.Arg2904Leu) c.5885G>T (n.5885G>T) n.4054G>T n.342-3545G>T c.5909G>T (p.Arg1970Leu) c.8870G>T (p.Arg2957Leu) c.8762G>T (p.Arg2921Leu) c.8744G>T (p.Arg2915Leu) c.5516G>T (p.Arg1839Leu) c.3446G>T (p.Arg1149Leu) c.8819G>T (p.Arg2940Leu) c.8765G>T (p.Arg2922Leu) c.8555G>T (p.Arg2852Leu) c.8201G>T (p.Arg2734Leu) c.6098G>T (p.Arg2033Leu) n.9048G>T c.8684G>T (p.Arg2895Leu) c.7880G>T (p.Arg2627Leu) c.7685G>T (p.Arg2562Leu) n.9097G>T | |
5 | g.37125329C= | CA1539667655 | CPLANE1 | n.1872G= c.8873G= (p.Arg2958=) n.734G= c.8711G= (p.Arg2904=) c.5885G= (n.5885G=) n.4054G= n.342-3545G= c.5909G= (p.Arg1970=) c.8870G= (p.Arg2957=) c.8762G= (p.Arg2921=) c.8744G= (p.Arg2915=) c.5516G= (p.Arg1839=) c.3446G= (p.Arg1149=) c.8819G= (p.Arg2940=) c.8765G= (p.Arg2922=) c.8555G= (p.Arg2852=) c.8201G= (p.Arg2734=) c.6098G= (p.Arg2033=) n.9048G= c.8684G= (p.Arg2895=) c.7880G= (p.Arg2627=) c.7685G= (p.Arg2562=) n.9097G= | |
5 | g.37125329C>G | CA359499151 | CPLANE1 | n.1872G>C c.8873G>C (p.Arg2958Pro) n.734G>C c.8711G>C (p.Arg2904Pro) c.5885G>C (n.5885G>C) n.4054G>C n.342-3545G>C c.5909G>C (p.Arg1970Pro) c.8870G>C (p.Arg2957Pro) c.8762G>C (p.Arg2921Pro) c.8744G>C (p.Arg2915Pro) c.5516G>C (p.Arg1839Pro) c.3446G>C (p.Arg1149Pro) c.8819G>C (p.Arg2940Pro) c.8765G>C (p.Arg2922Pro) c.8555G>C (p.Arg2852Pro) c.8201G>C (p.Arg2734Pro) c.6098G>C (p.Arg2033Pro) n.9048G>C c.8684G>C (p.Arg2895Pro) c.7880G>C (p.Arg2627Pro) c.7685G>C (p.Arg2562Pro) n.9097G>C | |
5 | g.37125329C>T | CA3237637 | CPLANE1 | n.1872G>A c.8873G>A (p.Arg2958Gln) n.734G>A c.8711G>A (p.Arg2904Gln) c.5885G>A (n.5885G>A) n.4054G>A n.342-3545G>A c.5909G>A (p.Arg1970Gln) c.8870G>A (p.Arg2957Gln) c.8762G>A (p.Arg2921Gln) c.8744G>A (p.Arg2915Gln) c.5516G>A (p.Arg1839Gln) c.3446G>A (p.Arg1149Gln) c.8819G>A (p.Arg2940Gln) c.8765G>A (p.Arg2922Gln) c.8555G>A (p.Arg2852Gln) c.8201G>A (p.Arg2734Gln) c.6098G>A (p.Arg2033Gln) n.9048G>A c.8684G>A (p.Arg2895Gln) c.7880G>A (p.Arg2627Gln) c.7685G>A (p.Arg2562Gln) n.9097G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37125330G>A | CA277713 | CPLANE1 | n.1871C>T c.8872C>T (p.Arg2958Ter) n.733C>T c.8710C>T (p.Arg2904Ter) c.5884C>T (n.5884C>T) n.4053C>T n.342-3546C>T c.5908C>T (p.Arg1970Ter) c.8869C>T (p.Arg2957Ter) c.8761C>T (p.Arg2921Ter) c.8743C>T (p.Arg2915Ter) c.5515C>T (p.Arg1839Ter) c.3445C>T (p.Arg1149Ter) c.8818C>T (p.Arg2940Ter) c.8764C>T (p.Arg2922Ter) c.8554C>T (p.Arg2852Ter) c.8200C>T (p.Arg2734Ter) c.6097C>T (p.Arg2033Ter) n.9047C>T c.8683C>T (p.Arg2895Ter) c.7879C>T (p.Arg2627Ter) c.7684C>T (p.Arg2562Ter) n.9096C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37125330G>C | CA359499156 | CPLANE1 | n.1871C>G c.8872C>G (p.Arg2958Gly) n.733C>G c.8710C>G (p.Arg2904Gly) c.5884C>G (n.5884C>G) n.4053C>G n.342-3546C>G c.5908C>G (p.Arg1970Gly) c.8869C>G (p.Arg2957Gly) c.8761C>G (p.Arg2921Gly) c.8743C>G (p.Arg2915Gly) c.5515C>G (p.Arg1839Gly) c.3445C>G (p.Arg1149Gly) c.8818C>G (p.Arg2940Gly) c.8764C>G (p.Arg2922Gly) c.8554C>G (p.Arg2852Gly) c.8200C>G (p.Arg2734Gly) c.6097C>G (p.Arg2033Gly) n.9047C>G c.8683C>G (p.Arg2895Gly) c.7879C>G (p.Arg2627Gly) c.7684C>G (p.Arg2562Gly) n.9096C>G | |
5 | g.37125330G= | CA1539667657 | CPLANE1 | n.1871C= c.8872C= (p.Arg2958=) n.733C= c.8710C= (p.Arg2904=) c.5884C= (n.5884C=) n.4053C= n.342-3546C= c.5908C= (p.Arg1970=) c.8869C= (p.Arg2957=) c.8761C= (p.Arg2921=) c.8743C= (p.Arg2915=) c.5515C= (p.Arg1839=) c.3445C= (p.Arg1149=) c.8818C= (p.Arg2940=) c.8764C= (p.Arg2922=) c.8554C= (p.Arg2852=) c.8200C= (p.Arg2734=) c.6097C= (p.Arg2033=) n.9047C= c.8683C= (p.Arg2895=) c.7879C= (p.Arg2627=) c.7684C= (p.Arg2562=) n.9096C= | |
5 | g.37125330G>T | CA443922028 | CPLANE1 | n.1871C>A c.8872C>A (p.Arg2958=) n.733C>A c.8710C>A (p.Arg2904=) c.5884C>A (n.5884C>A) n.4053C>A n.342-3546C>A c.5908C>A (p.Arg1970=) c.8869C>A (p.Arg2957=) c.8761C>A (p.Arg2921=) c.8743C>A (p.Arg2915=) c.5515C>A (p.Arg1839=) c.3445C>A (p.Arg1149=) c.8818C>A (p.Arg2940=) c.8764C>A (p.Arg2922=) c.8554C>A (p.Arg2852=) c.8200C>A (p.Arg2734=) c.6097C>A (p.Arg2033=) n.9047C>A c.8683C>A (p.Arg2895=) c.7879C>A (p.Arg2627=) c.7684C>A (p.Arg2562=) n.9096C>A | dbSNP |
5 | g.37125331T>A | CA359499160 | CPLANE1 | n.1870A>T c.8871A>T (p.Lys2957Asn) n.732A>T c.8709A>T (p.Lys2903Asn) c.5883A>T (n.5883A>T) n.4052A>T n.342-3547A>T c.5907A>T (p.Lys1969Asn) c.8868A>T (p.Lys2956Asn) c.8760A>T (p.Lys2920Asn) c.8742A>T (p.Lys2914Asn) c.5514A>T (p.Lys1838Asn) c.3444A>T (p.Lys1148Asn) c.8817A>T (p.Lys2939Asn) c.8763A>T (p.Lys2921Asn) c.8553A>T (p.Lys2851Asn) c.8199A>T (p.Lys2733Asn) c.6096A>T (p.Lys2032Asn) n.9046A>T c.8682A>T (p.Lys2894Asn) c.7878A>T (p.Lys2626Asn) c.7683A>T (p.Lys2561Asn) n.9095A>T | |
5 | g.37125331T>C | CA443922029 | CPLANE1 | n.1870A>G c.8871A>G (p.Lys2957=) n.732A>G c.8709A>G (p.Lys2903=) c.5883A>G (n.5883A>G) n.4052A>G n.342-3547A>G c.5907A>G (p.Lys1969=) c.8868A>G (p.Lys2956=) c.8760A>G (p.Lys2920=) c.8742A>G (p.Lys2914=) c.5514A>G (p.Lys1838=) c.3444A>G (p.Lys1148=) c.8817A>G (p.Lys2939=) c.8763A>G (p.Lys2921=) c.8553A>G (p.Lys2851=) c.8199A>G (p.Lys2733=) c.6096A>G (p.Lys2032=) n.9046A>G c.8682A>G (p.Lys2894=) c.7878A>G (p.Lys2626=) c.7683A>G (p.Lys2561=) n.9095A>G | |
5 | g.37125331T>G | CA359499163 | CPLANE1 | n.1870A>C c.8871A>C (p.Lys2957Asn) n.732A>C c.8709A>C (p.Lys2903Asn) c.5883A>C (n.5883A>C) n.4052A>C n.342-3547A>C c.5907A>C (p.Lys1969Asn) c.8868A>C (p.Lys2956Asn) c.8760A>C (p.Lys2920Asn) c.8742A>C (p.Lys2914Asn) c.5514A>C (p.Lys1838Asn) c.3444A>C (p.Lys1148Asn) c.8817A>C (p.Lys2939Asn) c.8763A>C (p.Lys2921Asn) c.8553A>C (p.Lys2851Asn) c.8199A>C (p.Lys2733Asn) c.6096A>C (p.Lys2032Asn) n.9046A>C c.8682A>C (p.Lys2894Asn) c.7878A>C (p.Lys2626Asn) c.7683A>C (p.Lys2561Asn) n.9095A>C | |
5 | g.37125332T>A | CA359499166 | CPLANE1 | n.1869A>T c.8870A>T (p.Lys2957Ile) n.731A>T c.8708A>T (p.Lys2903Ile) c.5882A>T (n.5882A>T) n.4051A>T n.342-3548A>T c.5906A>T (p.Lys1969Ile) c.8867A>T (p.Lys2956Ile) c.8759A>T (p.Lys2920Ile) c.8741A>T (p.Lys2914Ile) c.5513A>T (p.Lys1838Ile) c.3443A>T (p.Lys1148Ile) c.8816A>T (p.Lys2939Ile) c.8762A>T (p.Lys2921Ile) c.8552A>T (p.Lys2851Ile) c.8198A>T (p.Lys2733Ile) c.6095A>T (p.Lys2032Ile) n.9045A>T c.8681A>T (p.Lys2894Ile) c.7877A>T (p.Lys2626Ile) c.7682A>T (p.Lys2561Ile) n.9094A>T | |
5 | g.37125332T>C | CA359499177 | CPLANE1 | n.1869A>G c.8870A>G (p.Lys2957Arg) n.731A>G c.8708A>G (p.Lys2903Arg) c.5882A>G (n.5882A>G) n.4051A>G n.342-3548A>G c.5906A>G (p.Lys1969Arg) c.8867A>G (p.Lys2956Arg) c.8759A>G (p.Lys2920Arg) c.8741A>G (p.Lys2914Arg) c.5513A>G (p.Lys1838Arg) c.3443A>G (p.Lys1148Arg) c.8816A>G (p.Lys2939Arg) c.8762A>G (p.Lys2921Arg) c.8552A>G (p.Lys2851Arg) c.8198A>G (p.Lys2733Arg) c.6095A>G (p.Lys2032Arg) n.9045A>G c.8681A>G (p.Lys2894Arg) c.7877A>G (p.Lys2626Arg) c.7682A>G (p.Lys2561Arg) n.9094A>G | ClinVar dbSNP gnomAD v4 |
5 | g.37125332T>G | CA359499181 | CPLANE1 | n.1869A>C c.8870A>C (p.Lys2957Thr) n.731A>C c.8708A>C (p.Lys2903Thr) c.5882A>C (n.5882A>C) n.4051A>C n.342-3548A>C c.5906A>C (p.Lys1969Thr) c.8867A>C (p.Lys2956Thr) c.8759A>C (p.Lys2920Thr) c.8741A>C (p.Lys2914Thr) c.5513A>C (p.Lys1838Thr) c.3443A>C (p.Lys1148Thr) c.8816A>C (p.Lys2939Thr) c.8762A>C (p.Lys2921Thr) c.8552A>C (p.Lys2851Thr) c.8198A>C (p.Lys2733Thr) c.6095A>C (p.Lys2032Thr) n.9045A>C c.8681A>C (p.Lys2894Thr) c.7877A>C (p.Lys2626Thr) c.7682A>C (p.Lys2561Thr) n.9094A>C | |
5 | g.37125333T>A | CA359499187 | CPLANE1 | n.1868A>T c.8869A>T (p.Lys2957Ter) n.730A>T c.8707A>T (p.Lys2903Ter) c.5881A>T (n.5881A>T) n.4050A>T n.342-3549A>T c.5905A>T (p.Lys1969Ter) c.8866A>T (p.Lys2956Ter) c.8758A>T (p.Lys2920Ter) c.8740A>T (p.Lys2914Ter) c.5512A>T (p.Lys1838Ter) c.3442A>T (p.Lys1148Ter) c.8815A>T (p.Lys2939Ter) c.8761A>T (p.Lys2921Ter) c.8551A>T (p.Lys2851Ter) c.8197A>T (p.Lys2733Ter) c.6094A>T (p.Lys2032Ter) n.9044A>T c.8680A>T (p.Lys2894Ter) c.7876A>T (p.Lys2626Ter) c.7681A>T (p.Lys2561Ter) n.9093A>T | |
5 | g.37125333T>C | CA359499189 | CPLANE1 | n.1868A>G c.8869A>G (p.Lys2957Glu) n.730A>G c.8707A>G (p.Lys2903Glu) c.5881A>G (n.5881A>G) n.4050A>G n.342-3549A>G c.5905A>G (p.Lys1969Glu) c.8866A>G (p.Lys2956Glu) c.8758A>G (p.Lys2920Glu) c.8740A>G (p.Lys2914Glu) c.5512A>G (p.Lys1838Glu) c.3442A>G (p.Lys1148Glu) c.8815A>G (p.Lys2939Glu) c.8761A>G (p.Lys2921Glu) c.8551A>G (p.Lys2851Glu) c.8197A>G (p.Lys2733Glu) c.6094A>G (p.Lys2032Glu) n.9044A>G c.8680A>G (p.Lys2894Glu) c.7876A>G (p.Lys2626Glu) c.7681A>G (p.Lys2561Glu) n.9093A>G | |
5 | g.37125333T>G | CA359499194 | CPLANE1 | n.1868A>C c.8869A>C (p.Lys2957Gln) n.730A>C c.8707A>C (p.Lys2903Gln) c.5881A>C (n.5881A>C) n.4050A>C n.342-3549A>C c.5905A>C (p.Lys1969Gln) c.8866A>C (p.Lys2956Gln) c.8758A>C (p.Lys2920Gln) c.8740A>C (p.Lys2914Gln) c.5512A>C (p.Lys1838Gln) c.3442A>C (p.Lys1148Gln) c.8815A>C (p.Lys2939Gln) c.8761A>C (p.Lys2921Gln) c.8551A>C (p.Lys2851Gln) c.8197A>C (p.Lys2733Gln) c.6094A>C (p.Lys2032Gln) n.9044A>C c.8680A>C (p.Lys2894Gln) c.7876A>C (p.Lys2626Gln) c.7681A>C (p.Lys2561Gln) n.9093A>C | |
5 | g.37125335_37125337del | CA2765912303 | CPLANE1 | n.1866_1868del c.8867_8869del (p.Arg2956del) n.728_730del c.8705_8707del (p.Arg2902del) c.5879_5881del (n.5879_5881del) n.4048_4050del n.342-3551_342-3549del c.5903_5905del (p.Arg1968del) c.8864_8866del (p.Arg2955del) c.8756_8758del (p.Arg2919del) c.8738_8740del (p.Arg2913del) c.5510_5512del (p.Arg1837del) c.3440_3442del (p.Arg1147del) c.8813_8815del (p.Arg2938del) c.8759_8761del (p.Arg2920del) c.8549_8551del (p.Arg2850del) c.8195_8197del (p.Arg2732del) c.6092_6094del (p.Arg2031del) n.9042_9044del c.8678_8680del (p.Arg2893del) c.7874_7876del (p.Arg2625del) c.7679_7681del (p.Arg2560del) n.9091_9093del | |
5 | g.37125334T>A | CA359499203 | CPLANE1 | n.1867A>T c.8868A>T (p.Arg2956Ser) n.729A>T c.8706A>T (p.Arg2902Ser) c.5880A>T (n.5880A>T) n.4049A>T n.342-3550A>T c.5904A>T (p.Arg1968Ser) c.8865A>T (p.Arg2955Ser) c.8757A>T (p.Arg2919Ser) c.8739A>T (p.Arg2913Ser) c.5511A>T (p.Arg1837Ser) c.3441A>T (p.Arg1147Ser) c.8814A>T (p.Arg2938Ser) c.8760A>T (p.Arg2920Ser) c.8550A>T (p.Arg2850Ser) c.8196A>T (p.Arg2732Ser) c.6093A>T (p.Arg2031Ser) n.9043A>T c.8679A>T (p.Arg2893Ser) c.7875A>T (p.Arg2625Ser) c.7680A>T (p.Arg2560Ser) n.9092A>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37125334T>C | CA443922031 | CPLANE1 | n.1867A>G c.8868A>G (p.Arg2956=) n.729A>G c.8706A>G (p.Arg2902=) c.5880A>G (n.5880A>G) n.4049A>G n.342-3550A>G c.5904A>G (p.Arg1968=) c.8865A>G (p.Arg2955=) c.8757A>G (p.Arg2919=) c.8739A>G (p.Arg2913=) c.5511A>G (p.Arg1837=) c.3441A>G (p.Arg1147=) c.8814A>G (p.Arg2938=) c.8760A>G (p.Arg2920=) c.8550A>G (p.Arg2850=) c.8196A>G (p.Arg2732=) c.6093A>G (p.Arg2031=) n.9043A>G c.8679A>G (p.Arg2893=) c.7875A>G (p.Arg2625=) c.7680A>G (p.Arg2560=) n.9092A>G | |
5 | g.37125334T>G | CA359499213 | CPLANE1 | n.1867A>C c.8868A>C (p.Arg2956Ser) n.729A>C c.8706A>C (p.Arg2902Ser) c.5880A>C (n.5880A>C) n.4049A>C n.342-3550A>C c.5904A>C (p.Arg1968Ser) c.8865A>C (p.Arg2955Ser) c.8757A>C (p.Arg2919Ser) c.8739A>C (p.Arg2913Ser) c.5511A>C (p.Arg1837Ser) c.3441A>C (p.Arg1147Ser) c.8814A>C (p.Arg2938Ser) c.8760A>C (p.Arg2920Ser) c.8550A>C (p.Arg2850Ser) c.8196A>C (p.Arg2732Ser) c.6093A>C (p.Arg2031Ser) n.9043A>C c.8679A>C (p.Arg2893Ser) c.7875A>C (p.Arg2625Ser) c.7680A>C (p.Arg2560Ser) n.9092A>C | |
5 | g.37125334T= | CA1539667660 | CPLANE1 | n.1867A= c.8868A= (p.Arg2956=) n.729A= c.8706A= (p.Arg2902=) c.5880A= (n.5880A=) n.4049A= n.342-3550A= c.5904A= (p.Arg1968=) c.8865A= (p.Arg2955=) c.8757A= (p.Arg2919=) c.8739A= (p.Arg2913=) c.5511A= (p.Arg1837=) c.3441A= (p.Arg1147=) c.8814A= (p.Arg2938=) c.8760A= (p.Arg2920=) c.8550A= (p.Arg2850=) c.8196A= (p.Arg2732=) c.6093A= (p.Arg2031=) n.9043A= c.8679A= (p.Arg2893=) c.7875A= (p.Arg2625=) c.7680A= (p.Arg2560=) n.9092A= |