Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.36219806_36219810delinsGTTAC | CA1846328199 | CLTA,GNE | c.1909+28_1909+32delinsGTAAC (n.1909+28_1909+32delinsGTAAC) c.1639+28_1639+32delinsGTAAC (n.1639+28_1639+32delinsGTAAC) c.1816+28_1816+32delinsGTAAC (n.1816+28_1816+32delinsGTAAC) c.1594+28_1594+32delinsGTAAC (n.1594+28_1594+32delinsGTAAC) c.485+15627_485+15631delinsGTTAC (n.485+15627_485+15631delinsGTTAC) c.1486+28_1486+32delinsGTAAC (n.1486+28_1486+32delinsGTAAC) c.1801+28_1801+32delinsGTAAC (n.1801+28_1801+32delinsGTAAC) c.1756+28_1756+32delinsGTAAC (n.1756+28_1756+32delinsGTAAC) c.1663+28_1663+32delinsGTAAC (n.1663+28_1663+32delinsGTAAC) | |
9 | g.36219810_36219813del | CA5056415 | CLTA,GNE | c.1909+28_1909+31del (n.1909+28_1909+31del) c.1639+28_1639+31del (n.1639+28_1639+31del) c.1816+28_1816+31del (n.1816+28_1816+31del) c.1594+28_1594+31del (n.1594+28_1594+31del) c.485+15631_485+15634del (n.485+15631_485+15634del) c.1486+28_1486+31del (n.1486+28_1486+31del) c.1801+28_1801+31del (n.1801+28_1801+31del) c.1756+28_1756+31del (n.1756+28_1756+31del) c.1663+28_1663+31del (n.1663+28_1663+31del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36219809A= | CA1846328211 | CLTA,GNE | c.1909+29T= (n.1909+29T=) c.1639+29T= (n.1639+29T=) c.1816+29T= (n.1816+29T=) c.1594+29T= (n.1594+29T=) c.485+15630A= (n.485+15630A=) c.1486+29T= (n.1486+29T=) c.1801+29T= (n.1801+29T=) c.1756+29T= (n.1756+29T=) c.1663+29T= (n.1663+29T=) | |
9 | g.36219809A>G | CA5056417 | CLTA,GNE | c.1909+29T>C (n.1909+29T>C) c.1639+29T>C (n.1639+29T>C) c.1816+29T>C (n.1816+29T>C) c.1594+29T>C (n.1594+29T>C) c.485+15630A>G (n.485+15630A>G) c.1486+29T>C (n.1486+29T>C) c.1801+29T>C (n.1801+29T>C) c.1756+29T>C (n.1756+29T>C) c.1663+29T>C (n.1663+29T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36219809A>T | CA2579338422 | CLTA,GNE | c.1909+29T>A (n.1909+29T>A) c.1639+29T>A (n.1639+29T>A) c.1816+29T>A (n.1816+29T>A) c.1594+29T>A (n.1594+29T>A) c.485+15630A>T (n.485+15630A>T) c.1486+29T>A (n.1486+29T>A) c.1801+29T>A (n.1801+29T>A) c.1756+29T>A (n.1756+29T>A) c.1663+29T>A (n.1663+29T>A) | gnomAD v4 |
9 | g.36219810C= | CA1846328247 | CLTA,GNE | c.1909+28G= (n.1909+28G=) c.1639+28G= (n.1639+28G=) c.1816+28G= (n.1816+28G=) c.1594+28G= (n.1594+28G=) c.485+15631C= (n.485+15631C=) c.1486+28G= (n.1486+28G=) c.1801+28G= (n.1801+28G=) c.1756+28G= (n.1756+28G=) c.1663+28G= (n.1663+28G=) | |
9 | g.36219810C>T | CA5056418 | CLTA,GNE | c.1909+28G>A (n.1909+28G>A) c.1639+28G>A (n.1639+28G>A) c.1816+28G>A (n.1816+28G>A) c.1594+28G>A (n.1594+28G>A) c.485+15631C>T (n.485+15631C>T) c.1486+28G>A (n.1486+28G>A) c.1801+28G>A (n.1801+28G>A) c.1756+28G>A (n.1756+28G>A) c.1663+28G>A (n.1663+28G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36219813A>G | CA2689944930 | CLTA,GNE | c.1909+25T>C (n.1909+25T>C) c.1639+25T>C (n.1639+25T>C) c.1816+25T>C (n.1816+25T>C) c.1594+25T>C (n.1594+25T>C) c.485+15634A>G (n.485+15634A>G) c.1486+25T>C (n.1486+25T>C) c.1801+25T>C (n.1801+25T>C) c.1756+25T>C (n.1756+25T>C) c.1663+25T>C (n.1663+25T>C) | gnomAD v4 |
9 | g.36219813A>T | CA2579338423 | CLTA,GNE | c.1909+25T>A (n.1909+25T>A) c.1639+25T>A (n.1639+25T>A) c.1816+25T>A (n.1816+25T>A) c.1594+25T>A (n.1594+25T>A) c.485+15634A>T (n.485+15634A>T) c.1486+25T>A (n.1486+25T>A) c.1801+25T>A (n.1801+25T>A) c.1756+25T>A (n.1756+25T>A) c.1663+25T>A (n.1663+25T>A) | |
9 | g.36219816T>C | CA863603898 | CLTA,GNE | c.1909+22A>G (n.1909+22A>G) c.1639+22A>G (n.1639+22A>G) c.1816+22A>G (n.1816+22A>G) c.1594+22A>G (n.1594+22A>G) c.485+15637T>C (n.485+15637T>C) c.1486+22A>G (n.1486+22A>G) c.1801+22A>G (n.1801+22A>G) c.1756+22A>G (n.1756+22A>G) c.1663+22A>G (n.1663+22A>G) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36219816T= | CA1846328250 | CLTA,GNE | c.1909+22A= (n.1909+22A=) c.1639+22A= (n.1639+22A=) c.1816+22A= (n.1816+22A=) c.1594+22A= (n.1594+22A=) c.485+15637T= (n.485+15637T=) c.1486+22A= (n.1486+22A=) c.1801+22A= (n.1801+22A=) c.1756+22A= (n.1756+22A=) c.1663+22A= (n.1663+22A=) | |
9 | g.36219818C>T | CA2689944931 | CLTA,GNE | c.1909+20G>A (n.1909+20G>A) c.1639+20G>A (n.1639+20G>A) c.1816+20G>A (n.1816+20G>A) c.1594+20G>A (n.1594+20G>A) c.485+15639C>T (n.485+15639C>T) c.1486+20G>A (n.1486+20G>A) c.1801+20G>A (n.1801+20G>A) c.1756+20G>A (n.1756+20G>A) c.1663+20G>A (n.1663+20G>A) | gnomAD v4 |
9 | g.36219820C= | CA1846328254 | CLTA,GNE | c.1909+18G= (n.1909+18G=) c.1639+18G= (n.1639+18G=) c.1816+18G= (n.1816+18G=) c.1594+18G= (n.1594+18G=) c.485+15641C= (n.485+15641C=) c.1486+18G= (n.1486+18G=) c.1801+18G= (n.1801+18G=) c.1756+18G= (n.1756+18G=) c.1663+18G= (n.1663+18G=) | |
9 | g.36219820C>G | CA2689944932 | CLTA,GNE | c.1909+18G>C (n.1909+18G>C) c.1639+18G>C (n.1639+18G>C) c.1816+18G>C (n.1816+18G>C) c.1594+18G>C (n.1594+18G>C) c.485+15641C>G (n.485+15641C>G) c.1486+18G>C (n.1486+18G>C) c.1801+18G>C (n.1801+18G>C) c.1756+18G>C (n.1756+18G>C) c.1663+18G>C (n.1663+18G>C) | gnomAD v4 |
9 | g.36219820C>T | CA5056419 | CLTA,GNE | c.1909+18G>A (n.1909+18G>A) c.1639+18G>A (n.1639+18G>A) c.1816+18G>A (n.1816+18G>A) c.1594+18G>A (n.1594+18G>A) c.485+15641C>T (n.485+15641C>T) c.1486+18G>A (n.1486+18G>A) c.1801+18G>A (n.1801+18G>A) c.1756+18G>A (n.1756+18G>A) c.1663+18G>A (n.1663+18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36219821G>A | CA5056420 | CLTA,GNE | c.1909+17C>T (n.1909+17C>T) c.1639+17C>T (n.1639+17C>T) c.1816+17C>T (n.1816+17C>T) c.1594+17C>T (n.1594+17C>T) c.485+15642G>A (n.485+15642G>A) c.1486+17C>T (n.1486+17C>T) c.1801+17C>T (n.1801+17C>T) c.1756+17C>T (n.1756+17C>T) c.1663+17C>T (n.1663+17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36219821G= | CA1846328260 | CLTA,GNE | c.1909+17C= (n.1909+17C=) c.1639+17C= (n.1639+17C=) c.1816+17C= (n.1816+17C=) c.1594+17C= (n.1594+17C=) c.485+15642G= (n.485+15642G=) c.1486+17C= (n.1486+17C=) c.1801+17C= (n.1801+17C=) c.1756+17C= (n.1756+17C=) c.1663+17C= (n.1663+17C=) | |
9 | g.36219821G>T | CA2579338424 | CLTA,GNE | c.1909+17C>A (n.1909+17C>A) c.1639+17C>A (n.1639+17C>A) c.1816+17C>A (n.1816+17C>A) c.1594+17C>A (n.1594+17C>A) c.485+15642G>T (n.485+15642G>T) c.1486+17C>A (n.1486+17C>A) c.1801+17C>A (n.1801+17C>A) c.1756+17C>A (n.1756+17C>A) c.1663+17C>A (n.1663+17C>A) | gnomAD v4 |
9 | g.36219823G>A | CA2689944944 | CLTA,GNE | c.1909+15C>T (n.1909+15C>T) c.1639+15C>T (n.1639+15C>T) c.1816+15C>T (n.1816+15C>T) c.1594+15C>T (n.1594+15C>T) c.485+15644G>A (n.485+15644G>A) c.1486+15C>T (n.1486+15C>T) c.1801+15C>T (n.1801+15C>T) c.1756+15C>T (n.1756+15C>T) c.1663+15C>T (n.1663+15C>T) | dbSNP gnomAD v4 |
9 | g.36219823G>C | CA2689944945 | CLTA,GNE | c.1909+15C>G (n.1909+15C>G) c.1639+15C>G (n.1639+15C>G) c.1816+15C>G (n.1816+15C>G) c.1594+15C>G (n.1594+15C>G) c.485+15644G>C (n.485+15644G>C) c.1486+15C>G (n.1486+15C>G) c.1801+15C>G (n.1801+15C>G) c.1756+15C>G (n.1756+15C>G) c.1663+15C>G (n.1663+15C>G) | ClinVar gnomAD v4 |
9 | g.36219824A>G | CA2579338425 | CLTA,GNE | c.1909+14T>C (n.1909+14T>C) c.1639+14T>C (n.1639+14T>C) c.1816+14T>C (n.1816+14T>C) c.1594+14T>C (n.1594+14T>C) c.485+15645A>G (n.485+15645A>G) c.1486+14T>C (n.1486+14T>C) c.1801+14T>C (n.1801+14T>C) c.1756+14T>C (n.1756+14T>C) c.1663+14T>C (n.1663+14T>C) | |
9 | g.36219826_36219827delinsAG | CA1846328266 | CLTA,GNE | c.1909+11_1909+12delinsCT (n.1909+11_1909+12delinsCT) c.1639+11_1639+12delinsCT (n.1639+11_1639+12delinsCT) c.1816+11_1816+12delinsCT (n.1816+11_1816+12delinsCT) c.1594+11_1594+12delinsCT (n.1594+11_1594+12delinsCT) c.485+15647_485+15648delinsAG (n.485+15647_485+15648delinsAG) c.1486+11_1486+12delinsCT (n.1486+11_1486+12delinsCT) c.1801+11_1801+12delinsCT (n.1801+11_1801+12delinsCT) c.1756+11_1756+12delinsCT (n.1756+11_1756+12delinsCT) c.1663+11_1663+12delinsCT (n.1663+11_1663+12delinsCT) | |
9 | g.36219829del | CA10630083 | CLTA,GNE | c.1909+11del (n.1909+11del) c.1639+11del (n.1639+11del) c.1816+11del (n.1816+11del) c.1594+11del (n.1594+11del) c.485+15650del (n.485+15650del) c.1486+11del (n.1486+11del) c.1801+11del (n.1801+11del) c.1756+11del (n.1756+11del) c.1663+11del (n.1663+11del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.36219828G>A | CA658797200 | CLTA,GNE | c.1909+10C>T (n.1909+10C>T) c.1639+10C>T (n.1639+10C>T) c.1816+10C>T (n.1816+10C>T) c.1594+10C>T (n.1594+10C>T) c.485+15649G>A (n.485+15649G>A) c.1486+10C>T (n.1486+10C>T) c.1801+10C>T (n.1801+10C>T) c.1756+10C>T (n.1756+10C>T) c.1663+10C>T (n.1663+10C>T) | ClinVar dbSNP |
9 | g.36219828G= | CA1846328284 | CLTA,GNE | c.1909+10C= (n.1909+10C=) c.1639+10C= (n.1639+10C=) c.1816+10C= (n.1816+10C=) c.1594+10C= (n.1594+10C=) c.485+15649G= (n.485+15649G=) c.1486+10C= (n.1486+10C=) c.1801+10C= (n.1801+10C=) c.1756+10C= (n.1756+10C=) c.1663+10C= (n.1663+10C=) | |
9 | g.36219829G>A | CA2783549381 | CLTA,GNE | c.1909+9C>T (n.1909+9C>T) c.1639+9C>T (n.1639+9C>T) c.1816+9C>T (n.1816+9C>T) c.1594+9C>T (n.1594+9C>T) c.485+15650G>A (n.485+15650G>A) c.1486+9C>T (n.1486+9C>T) c.1801+9C>T (n.1801+9C>T) c.1756+9C>T (n.1756+9C>T) c.1663+9C>T (n.1663+9C>T) | |
9 | g.36219829G= | CA1846328288 | CLTA,GNE | c.1909+9C= (n.1909+9C=) c.1639+9C= (n.1639+9C=) c.1816+9C= (n.1816+9C=) c.1594+9C= (n.1594+9C=) c.485+15650G= (n.485+15650G=) c.1486+9C= (n.1486+9C=) c.1801+9C= (n.1801+9C=) c.1756+9C= (n.1756+9C=) c.1663+9C= (n.1663+9C=) | |
9 | g.36219829G>T | CA587786758 | CLTA,GNE | c.1909+9C>A (n.1909+9C>A) c.1639+9C>A (n.1639+9C>A) c.1816+9C>A (n.1816+9C>A) c.1594+9C>A (n.1594+9C>A) c.485+15650G>T (n.485+15650G>T) c.1486+9C>A (n.1486+9C>A) c.1801+9C>A (n.1801+9C>A) c.1756+9C>A (n.1756+9C>A) c.1663+9C>A (n.1663+9C>A) | ClinVar dbSNP gnomAD v2 |
9 | g.36219830A= | CA1846328291 | CLTA,GNE | c.1909+8T= (n.1909+8T=) c.1639+8T= (n.1639+8T=) c.1816+8T= (n.1816+8T=) c.1594+8T= (n.1594+8T=) c.485+15651A= (n.485+15651A=) c.1486+8T= (n.1486+8T=) c.1801+8T= (n.1801+8T=) c.1756+8T= (n.1756+8T=) c.1663+8T= (n.1663+8T=) | |
9 | g.36219830A>C | CA1123242772 | CLTA,GNE | c.1909+8T>G (n.1909+8T>G) c.1639+8T>G (n.1639+8T>G) c.1816+8T>G (n.1816+8T>G) c.1594+8T>G (n.1594+8T>G) c.485+15651A>C (n.485+15651A>C) c.1486+8T>G (n.1486+8T>G) c.1801+8T>G (n.1801+8T>G) c.1756+8T>G (n.1756+8T>G) c.1663+8T>G (n.1663+8T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.36219831C>T | CA2740095470 | CLTA,GNE | c.1909+7G>A (n.1909+7G>A) c.1639+7G>A (n.1639+7G>A) c.1816+7G>A (n.1816+7G>A) c.1594+7G>A (n.1594+7G>A) c.485+15652C>T (n.485+15652C>T) c.1486+7G>A (n.1486+7G>A) c.1801+7G>A (n.1801+7G>A) c.1756+7G>A (n.1756+7G>A) c.1663+7G>A (n.1663+7G>A) | ClinVar |
9 | g.36219831_36219835delinsCACCA | CA1846328296 | CLTA,GNE | c.1909+3_1909+7delinsTGGTG (n.1909+3_1909+7delinsTGGTG) c.1639+3_1639+7delinsTGGTG (n.1639+3_1639+7delinsTGGTG) c.1816+3_1816+7delinsTGGTG (n.1816+3_1816+7delinsTGGTG) c.1594+3_1594+7delinsTGGTG (n.1594+3_1594+7delinsTGGTG) c.485+15652_485+15656delinsCACCA (n.485+15652_485+15656delinsCACCA) c.1486+3_1486+7delinsTGGTG (n.1486+3_1486+7delinsTGGTG) c.1801+3_1801+7delinsTGGTG (n.1801+3_1801+7delinsTGGTG) c.1756+3_1756+7delinsTGGTG (n.1756+3_1756+7delinsTGGTG) c.1663+3_1663+7delinsTGGTG (n.1663+3_1663+7delinsTGGTG) | |
9 | g.36219832A>G | CA2689944954 | CLTA,GNE | c.1909+6T>C (n.1909+6T>C) c.1639+6T>C (n.1639+6T>C) c.1816+6T>C (n.1816+6T>C) c.1594+6T>C (n.1594+6T>C) c.485+15653A>G (n.485+15653A>G) c.1486+6T>C (n.1486+6T>C) c.1801+6T>C (n.1801+6T>C) c.1756+6T>C (n.1756+6T>C) c.1663+6T>C (n.1663+6T>C) | gnomAD v4 |
9 | g.36219836_36219839del | CA916083045 | CLTA,GNE | c.1909+3_1909+6del c.1639+3_1639+6del c.1816+3_1816+6del c.1594+3_1594+6del c.485+15657_485+15660del (n.485+15657_485+15660del) c.1486+3_1486+6del c.1801+3_1801+6del c.1756+3_1756+6del c.1663+3_1663+6del | ClinVar dbSNP |
9 | g.36219833C>G | CA2689944959 | CLTA,GNE | c.1909+5G>C (n.1909+5G>C) c.1639+5G>C (n.1639+5G>C) c.1816+5G>C (n.1816+5G>C) c.1594+5G>C (n.1594+5G>C) c.485+15654C>G (n.485+15654C>G) c.1486+5G>C (n.1486+5G>C) c.1801+5G>C (n.1801+5G>C) c.1756+5G>C (n.1756+5G>C) c.1663+5G>C (n.1663+5G>C) | gnomAD v4 |
9 | g.36219833C>T | CA2499219906 | CLTA,GNE | c.1909+5G>A (n.1909+5G>A) c.1639+5G>A (n.1639+5G>A) c.1816+5G>A (n.1816+5G>A) c.1594+5G>A (n.1594+5G>A) c.485+15654C>T (n.485+15654C>T) c.1486+5G>A (n.1486+5G>A) c.1801+5G>A (n.1801+5G>A) c.1756+5G>A (n.1756+5G>A) c.1663+5G>A (n.1663+5G>A) | ClinVar dbSNP |
9 | g.36219834C>A | CA863603925 | CLTA,GNE | c.1909+4G>T (n.1909+4G>T) c.1639+4G>T (n.1639+4G>T) c.1816+4G>T (n.1816+4G>T) c.1594+4G>T (n.1594+4G>T) c.485+15655C>A (n.485+15655C>A) c.1486+4G>T (n.1486+4G>T) c.1801+4G>T (n.1801+4G>T) c.1756+4G>T (n.1756+4G>T) c.1663+4G>T (n.1663+4G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.36219834C= | CA1846328304 | CLTA,GNE | c.1909+4G= (n.1909+4G=) c.1639+4G= (n.1639+4G=) c.1816+4G= (n.1816+4G=) c.1594+4G= (n.1594+4G=) c.485+15655C= (n.485+15655C=) c.1486+4G= (n.1486+4G=) c.1801+4G= (n.1801+4G=) c.1756+4G= (n.1756+4G=) c.1663+4G= (n.1663+4G=) | |
9 | g.36219834C>G | CA5056421 | CLTA,GNE | c.1909+4G>C (n.1909+4G>C) c.1639+4G>C (n.1639+4G>C) c.1816+4G>C (n.1816+4G>C) c.1594+4G>C (n.1594+4G>C) c.485+15655C>G (n.485+15655C>G) c.1486+4G>C (n.1486+4G>C) c.1801+4G>C (n.1801+4G>C) c.1756+4G>C (n.1756+4G>C) c.1663+4G>C (n.1663+4G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36219835A>G | CA2689944967 | CLTA,GNE | c.1909+3T>C (n.1909+3T>C) c.1639+3T>C (n.1639+3T>C) c.1816+3T>C (n.1816+3T>C) c.1594+3T>C (n.1594+3T>C) c.485+15656A>G (n.485+15656A>G) c.1486+3T>C (n.1486+3T>C) c.1801+3T>C (n.1801+3T>C) c.1756+3T>C (n.1756+3T>C) c.1663+3T>C (n.1663+3T>C) | gnomAD v4 |
9 | g.36219836A= | CA1846328315 | CLTA,GNE | c.1909+2T= (n.1909+2T=) c.1639+2T= (n.1639+2T=) c.1816+2T= (n.1816+2T=) c.1594+2T= (n.1594+2T=) c.485+15657A= (n.485+15657A=) c.1486+2T= (n.1486+2T=) c.1801+2T= (n.1801+2T=) c.1756+2T= (n.1756+2T=) c.1663+2T= (n.1663+2T=) | |
9 | g.36219836A>C | CA373425455 | CLTA,GNE | c.1909+2T>G (n.1909+2T>G) c.1639+2T>G (n.1639+2T>G) c.1816+2T>G (n.1816+2T>G) c.1594+2T>G (n.1594+2T>G) c.485+15657A>C (n.485+15657A>C) c.1486+2T>G (n.1486+2T>G) c.1801+2T>G (n.1801+2T>G) c.1756+2T>G (n.1756+2T>G) c.1663+2T>G (n.1663+2T>G) | |
9 | g.36219836A>G | CA373425456 | CLTA,GNE | c.1909+2T>C (n.1909+2T>C) c.1639+2T>C (n.1639+2T>C) c.1816+2T>C (n.1816+2T>C) c.1594+2T>C (n.1594+2T>C) c.485+15657A>G (n.485+15657A>G) c.1486+2T>C (n.1486+2T>C) c.1801+2T>C (n.1801+2T>C) c.1756+2T>C (n.1756+2T>C) c.1663+2T>C (n.1663+2T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.36219836A>T | CA373425457 | CLTA,GNE | c.1909+2T>A (n.1909+2T>A) c.1639+2T>A (n.1639+2T>A) c.1816+2T>A (n.1816+2T>A) c.1594+2T>A (n.1594+2T>A) c.485+15657A>T (n.485+15657A>T) c.1486+2T>A (n.1486+2T>A) c.1801+2T>A (n.1801+2T>A) c.1756+2T>A (n.1756+2T>A) c.1663+2T>A (n.1663+2T>A) | |
9 | g.36219837C>A | CA373425458 | CLTA,GNE | c.1909+1G>T (n.1909+1G>T) c.1639+1G>T (n.1639+1G>T) c.1816+1G>T (n.1816+1G>T) c.1594+1G>T (n.1594+1G>T) c.485+15658C>A (n.485+15658C>A) c.1486+1G>T (n.1486+1G>T) c.1801+1G>T (n.1801+1G>T) c.1756+1G>T (n.1756+1G>T) c.1663+1G>T (n.1663+1G>T) | |
9 | g.36219837C>G | CA373425459 | CLTA,GNE | c.1909+1G>C (n.1909+1G>C) c.1639+1G>C (n.1639+1G>C) c.1816+1G>C (n.1816+1G>C) c.1594+1G>C (n.1594+1G>C) c.485+15658C>G (n.485+15658C>G) c.1486+1G>C (n.1486+1G>C) c.1801+1G>C (n.1801+1G>C) c.1756+1G>C (n.1756+1G>C) c.1663+1G>C (n.1663+1G>C) | |
9 | g.36219837C>T | CA373425460 | CLTA,GNE | c.1909+1G>A (n.1909+1G>A) c.1639+1G>A (n.1639+1G>A) c.1816+1G>A (n.1816+1G>A) c.1594+1G>A (n.1594+1G>A) c.485+15658C>T (n.485+15658C>T) c.1486+1G>A (n.1486+1G>A) c.1801+1G>A (n.1801+1G>A) c.1756+1G>A (n.1756+1G>A) c.1663+1G>A (n.1663+1G>A) | |
9 | g.36219838C>A | CA373425461 | CLTA,GNE | c.1909G>T (p.Glu637Ter) c.1639G>T (p.Glu547Ter) c.1816G>T (p.Glu606Ter) c.1594G>T (p.Glu532Ter) c.485+15659C>A (n.485+15659C>A) c.1486G>T (p.Glu496Ter) c.1801G>T (p.Glu601Ter) c.1756G>T (p.Glu586Ter) c.1663G>T (p.Glu555Ter) | |
9 | g.36219838C= | CA1846328322 | CLTA,GNE | c.1909G= (p.Glu637=) c.1639G= (p.Glu547=) c.1816G= (p.Glu606=) c.1594G= (p.Glu532=) c.485+15659C= (n.485+15659C=) c.1486G= (p.Glu496=) c.1801G= (p.Glu601=) c.1756G= (p.Glu586=) c.1663G= (p.Glu555=) | |
9 | g.36219838C>G | CA373425462 | CLTA,GNE | c.1909G>C (p.Glu637Gln) c.1639G>C (p.Glu547Gln) c.1816G>C (p.Glu606Gln) c.1594G>C (p.Glu532Gln) c.485+15659C>G (n.485+15659C>G) c.1486G>C (p.Glu496Gln) c.1801G>C (p.Glu601Gln) c.1756G>C (p.Glu586Gln) c.1663G>C (p.Glu555Gln) | |
9 | g.36219838C>T | CA5056422 | CLTA,GNE | c.1909G>A (p.Glu637Lys) c.1639G>A (p.Glu547Lys) c.1816G>A (p.Glu606Lys) c.1594G>A (p.Glu532Lys) c.485+15659C>T (n.485+15659C>T) c.1486G>A (p.Glu496Lys) c.1801G>A (p.Glu601Lys) c.1756G>A (p.Glu586Lys) c.1663G>A (p.Glu555Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36219839A>C | CA373425463 | CLTA,GNE | c.1908T>G (p.Asp636Glu) c.1638T>G (p.Asp546Glu) c.1815T>G (p.Asp605Glu) c.1593T>G (p.Asp531Glu) c.485+15660A>C (n.485+15660A>C) c.1485T>G (p.Asp495Glu) c.1800T>G (p.Asp600Glu) c.1755T>G (p.Asp585Glu) c.1662T>G (p.Asp554Glu) | |
9 | g.36219839A>G | CA464494929 | CLTA,GNE | c.1908T>C (p.Asp636=) c.1638T>C (p.Asp546=) c.1815T>C (p.Asp605=) c.1593T>C (p.Asp531=) c.485+15660A>G (n.485+15660A>G) c.1485T>C (p.Asp495=) c.1800T>C (p.Asp600=) c.1755T>C (p.Asp585=) c.1662T>C (p.Asp554=) | |
9 | g.36219839A>T | CA373425464 | CLTA,GNE | c.1908T>A (p.Asp636Glu) c.1638T>A (p.Asp546Glu) c.1815T>A (p.Asp605Glu) c.1593T>A (p.Asp531Glu) c.485+15660A>T (n.485+15660A>T) c.1485T>A (p.Asp495Glu) c.1800T>A (p.Asp600Glu) c.1755T>A (p.Asp585Glu) c.1662T>A (p.Asp554Glu) | |
9 | g.36219840T>A | CA373425465 | CLTA,GNE | c.1907A>T (p.Asp636Val) c.1637A>T (p.Asp546Val) c.1814A>T (p.Asp605Val) c.1592A>T (p.Asp531Val) c.485+15661T>A (n.485+15661T>A) c.1484A>T (p.Asp495Val) c.1799A>T (p.Asp600Val) c.1754A>T (p.Asp585Val) c.1661A>T (p.Asp554Val) | |
9 | g.36219840T>C | CA373425466 | CLTA,GNE | c.1907A>G (p.Asp636Gly) c.1637A>G (p.Asp546Gly) c.1814A>G (p.Asp605Gly) c.1592A>G (p.Asp531Gly) c.485+15661T>C (n.485+15661T>C) c.1484A>G (p.Asp495Gly) c.1799A>G (p.Asp600Gly) c.1754A>G (p.Asp585Gly) c.1661A>G (p.Asp554Gly) | gnomAD v4 |
9 | g.36219840T>G | CA373425467 | CLTA,GNE | c.1907A>C (p.Asp636Ala) c.1637A>C (p.Asp546Ala) c.1814A>C (p.Asp605Ala) c.1592A>C (p.Asp531Ala) c.485+15661T>G (n.485+15661T>G) c.1484A>C (p.Asp495Ala) c.1799A>C (p.Asp600Ala) c.1754A>C (p.Asp585Ala) c.1661A>C (p.Asp554Ala) | |
9 | g.36219841C>A | CA373425468 | CLTA,GNE | c.1906G>T (p.Asp636Tyr) c.1636G>T (p.Asp546Tyr) c.1813G>T (p.Asp605Tyr) c.1591G>T (p.Asp531Tyr) c.485+15662C>A (n.485+15662C>A) c.1483G>T (p.Asp495Tyr) c.1798G>T (p.Asp600Tyr) c.1753G>T (p.Asp585Tyr) c.1660G>T (p.Asp554Tyr) | gnomAD v4 |
9 | g.36219841C>G | CA373425469 | CLTA,GNE | c.1906G>C (p.Asp636His) c.1636G>C (p.Asp546His) c.1813G>C (p.Asp605His) c.1591G>C (p.Asp531His) c.485+15662C>G (n.485+15662C>G) c.1483G>C (p.Asp495His) c.1798G>C (p.Asp600His) c.1753G>C (p.Asp585His) c.1660G>C (p.Asp554His) | |
9 | g.36219841C>T | CA373425470 | CLTA,GNE | c.1906G>A (p.Asp636Asn) c.1636G>A (p.Asp546Asn) c.1813G>A (p.Asp605Asn) c.1591G>A (p.Asp531Asn) c.485+15662C>T (n.485+15662C>T) c.1483G>A (p.Asp495Asn) c.1798G>A (p.Asp600Asn) c.1753G>A (p.Asp585Asn) c.1660G>A (p.Asp554Asn) | |
9 | g.36219842A= | CA1846328331 | CLTA,GNE | c.1905T= (p.His635=) c.1635T= (p.His545=) c.1812T= (p.His604=) c.1590T= (p.His530=) c.485+15663A= (n.485+15663A=) c.1482T= (p.His494=) c.1797T= (p.His599=) c.1752T= (p.His584=) c.1659T= (p.His553=) | |
9 | g.36219842A>C | CA373425471 | CLTA,GNE | c.1905T>G (p.His635Gln) c.1635T>G (p.His545Gln) c.1812T>G (p.His604Gln) c.1590T>G (p.His530Gln) c.485+15663A>C (n.485+15663A>C) c.1482T>G (p.His494Gln) c.1797T>G (p.His599Gln) c.1752T>G (p.His584Gln) c.1659T>G (p.His553Gln) | |
9 | g.36219842A>G | CA192841294 | CLTA,GNE | c.1905T>C (p.His635=) c.1635T>C (p.His545=) c.1812T>C (p.His604=) c.1590T>C (p.His530=) c.485+15663A>G (n.485+15663A>G) c.1482T>C (p.His494=) c.1797T>C (p.His599=) c.1752T>C (p.His584=) c.1659T>C (p.His553=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.36219842A>T | CA373425472 | CLTA,GNE | c.1905T>A (p.His635Gln) c.1635T>A (p.His545Gln) c.1812T>A (p.His604Gln) c.1590T>A (p.His530Gln) c.485+15663A>T (n.485+15663A>T) c.1482T>A (p.His494Gln) c.1797T>A (p.His599Gln) c.1752T>A (p.His584Gln) c.1659T>A (p.His553Gln) | |
9 | g.36219843T>A | CA373425473 | CLTA,GNE | c.1904A>T (p.His635Leu) c.1634A>T (p.His545Leu) c.1811A>T (p.His604Leu) c.1589A>T (p.His530Leu) c.485+15664T>A (n.485+15664T>A) c.1481A>T (p.His494Leu) c.1796A>T (p.His599Leu) c.1751A>T (p.His584Leu) c.1658A>T (p.His553Leu) | |
9 | g.36219843T>C | CA5056423 | CLTA,GNE | c.1904A>G (p.His635Arg) c.1634A>G (p.His545Arg) c.1811A>G (p.His604Arg) c.1589A>G (p.His530Arg) c.485+15664T>C (n.485+15664T>C) c.1481A>G (p.His494Arg) c.1796A>G (p.His599Arg) c.1751A>G (p.His584Arg) c.1658A>G (p.His553Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36219843T>G | CA373425474 | CLTA,GNE | c.1904A>C (p.His635Pro) c.1634A>C (p.His545Pro) c.1811A>C (p.His604Pro) c.1589A>C (p.His530Pro) c.485+15664T>G (n.485+15664T>G) c.1481A>C (p.His494Pro) c.1796A>C (p.His599Pro) c.1751A>C (p.His584Pro) c.1658A>C (p.His553Pro) | |
9 | g.36219843T= | CA1846328335 | CLTA,GNE | c.1904A= (p.His635=) c.1634A= (p.His545=) c.1811A= (p.His604=) c.1589A= (p.His530=) c.485+15664T= (n.485+15664T=) c.1481A= (p.His494=) c.1796A= (p.His599=) c.1751A= (p.His584=) c.1658A= (p.His553=) | |
9 | g.36219844G>A | CA373425476 | CLTA,GNE | c.1903C>T (p.His635Tyr) c.1633C>T (p.His545Tyr) c.1810C>T (p.His604Tyr) c.1588C>T (p.His530Tyr) c.485+15665G>A (n.485+15665G>A) c.1480C>T (p.His494Tyr) c.1795C>T (p.His599Tyr) c.1750C>T (p.His584Tyr) c.1657C>T (p.His553Tyr) | |
9 | g.36219844G>C | CA373425477 | CLTA,GNE | c.1903C>G (p.His635Asp) c.1633C>G (p.His545Asp) c.1810C>G (p.His604Asp) c.1588C>G (p.His530Asp) c.485+15665G>C (n.485+15665G>C) c.1480C>G (p.His494Asp) c.1795C>G (p.His599Asp) c.1750C>G (p.His584Asp) c.1657C>G (p.His553Asp) | |
9 | g.36219844G>T | CA373425475 | CLTA,GNE | c.1903C>A (p.His635Asn) c.1633C>A (p.His545Asn) c.1810C>A (p.His604Asn) c.1588C>A (p.His530Asn) c.485+15665G>T (n.485+15665G>T) c.1480C>A (p.His494Asn) c.1795C>A (p.His599Asn) c.1750C>A (p.His584Asn) c.1657C>A (p.His553Asn) | |
9 | g.36219845G>A | CA464494931 | CLTA,GNE | c.1902C>T (p.Leu634=) c.1632C>T (p.Leu544=) c.1809C>T (p.Leu603=) c.1587C>T (p.Leu529=) c.485+15666G>A (n.485+15666G>A) c.1479C>T (p.Leu493=) c.1794C>T (p.Leu598=) c.1749C>T (p.Leu583=) c.1656C>T (p.Leu552=) | |
9 | g.36219845G>C | CA464494932 | CLTA,GNE | c.1902C>G (p.Leu634=) c.1632C>G (p.Leu544=) c.1809C>G (p.Leu603=) c.1587C>G (p.Leu529=) c.485+15666G>C (n.485+15666G>C) c.1479C>G (p.Leu493=) c.1794C>G (p.Leu598=) c.1749C>G (p.Leu583=) c.1656C>G (p.Leu552=) | |
9 | g.36219845G>T | CA464494930 | CLTA,GNE | c.1902C>A (p.Leu634=) c.1632C>A (p.Leu544=) c.1809C>A (p.Leu603=) c.1587C>A (p.Leu529=) c.485+15666G>T (n.485+15666G>T) c.1479C>A (p.Leu493=) c.1794C>A (p.Leu598=) c.1749C>A (p.Leu583=) c.1656C>A (p.Leu552=) | |
9 | g.36219846A>C | CA373425480 | CLTA,GNE | c.1901T>G (p.Leu634Arg) c.1631T>G (p.Leu544Arg) c.1808T>G (p.Leu603Arg) c.1586T>G (p.Leu529Arg) c.485+15667A>C (n.485+15667A>C) c.1478T>G (p.Leu493Arg) c.1793T>G (p.Leu598Arg) c.1748T>G (p.Leu583Arg) c.1655T>G (p.Leu552Arg) | |
9 | g.36219846A>G | CA373425478 | CLTA,GNE | c.1901T>C (p.Leu634Pro) c.1631T>C (p.Leu544Pro) c.1808T>C (p.Leu603Pro) c.1586T>C (p.Leu529Pro) c.485+15667A>G (n.485+15667A>G) c.1478T>C (p.Leu493Pro) c.1793T>C (p.Leu598Pro) c.1748T>C (p.Leu583Pro) c.1655T>C (p.Leu552Pro) | |
9 | g.36219846A>T | CA373425479 | CLTA,GNE | c.1901T>A (p.Leu634His) c.1631T>A (p.Leu544His) c.1808T>A (p.Leu603His) c.1586T>A (p.Leu529His) c.485+15667A>T (n.485+15667A>T) c.1478T>A (p.Leu493His) c.1793T>A (p.Leu598His) c.1748T>A (p.Leu583His) c.1655T>A (p.Leu552His) | |
9 | g.36219847G>A | CA5056424 | CLTA,GNE | c.1900C>T (p.Leu634Phe) c.1630C>T (p.Leu544Phe) c.1807C>T (p.Leu603Phe) c.1585C>T (p.Leu529Phe) c.485+15668G>A (n.485+15668G>A) c.1477C>T (p.Leu493Phe) c.1792C>T (p.Leu598Phe) c.1747C>T (p.Leu583Phe) c.1654C>T (p.Leu552Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36219847G>C | CA373425481 | CLTA,GNE | c.1900C>G (p.Leu634Val) c.1630C>G (p.Leu544Val) c.1807C>G (p.Leu603Val) c.1585C>G (p.Leu529Val) c.485+15668G>C (n.485+15668G>C) c.1477C>G (p.Leu493Val) c.1792C>G (p.Leu598Val) c.1747C>G (p.Leu583Val) c.1654C>G (p.Leu552Val) | |
9 | g.36219847G= | CA1846328340 | CLTA,GNE | c.1900C= (p.Leu634=) c.1630C= (p.Leu544=) c.1807C= (p.Leu603=) c.1585C= (p.Leu529=) c.485+15668G= (n.485+15668G=) c.1477C= (p.Leu493=) c.1792C= (p.Leu598=) c.1747C= (p.Leu583=) c.1654C= (p.Leu552=) | |
9 | g.36219847G>T | CA373425482 | CLTA,GNE | c.1900C>A (p.Leu634Ile) c.1630C>A (p.Leu544Ile) c.1807C>A (p.Leu603Ile) c.1585C>A (p.Leu529Ile) c.485+15668G>T (n.485+15668G>T) c.1477C>A (p.Leu493Ile) c.1792C>A (p.Leu598Ile) c.1747C>A (p.Leu583Ile) c.1654C>A (p.Leu552Ile) | |
9 | g.36219848C>A | CA373425483 | CLTA,GNE | c.1899G>T (p.Lys633Asn) c.1629G>T (p.Lys543Asn) c.1806G>T (p.Lys602Asn) c.1584G>T (p.Lys528Asn) c.485+15669C>A (n.485+15669C>A) c.1476G>T (p.Lys492Asn) c.1791G>T (p.Lys597Asn) c.1746G>T (p.Lys582Asn) c.1653G>T (p.Lys551Asn) | |
9 | g.36219848C= | CA1846328342 | CLTA,GNE | c.1899G= (p.Lys633=) c.1629G= (p.Lys543=) c.1806G= (p.Lys602=) c.1584G= (p.Lys528=) c.485+15669C= (n.485+15669C=) c.1476G= (p.Lys492=) c.1791G= (p.Lys597=) c.1746G= (p.Lys582=) c.1653G= (p.Lys551=) | |
9 | g.36219848C>G | CA373425484 | CLTA,GNE | c.1899G>C (p.Lys633Asn) c.1629G>C (p.Lys543Asn) c.1806G>C (p.Lys602Asn) c.1584G>C (p.Lys528Asn) c.485+15669C>G (n.485+15669C>G) c.1476G>C (p.Lys492Asn) c.1791G>C (p.Lys597Asn) c.1746G>C (p.Lys582Asn) c.1653G>C (p.Lys551Asn) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36219848C>T | CA464494933 | CLTA,GNE | c.1899G>A (p.Lys633=) c.1629G>A (p.Lys543=) c.1806G>A (p.Lys602=) c.1584G>A (p.Lys528=) c.485+15669C>T (n.485+15669C>T) c.1476G>A (p.Lys492=) c.1791G>A (p.Lys597=) c.1746G>A (p.Lys582=) c.1653G>A (p.Lys551=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36219849T>A | CA373425485 | CLTA,GNE | c.1898A>T (p.Lys633Met) c.1628A>T (p.Lys543Met) c.1805A>T (p.Lys602Met) c.1583A>T (p.Lys528Met) c.485+15670T>A (n.485+15670T>A) c.1475A>T (p.Lys492Met) c.1790A>T (p.Lys597Met) c.1745A>T (p.Lys582Met) c.1652A>T (p.Lys551Met) | |
9 | g.36219849T>C | CA373425486 | CLTA,GNE | c.1898A>G (p.Lys633Arg) c.1628A>G (p.Lys543Arg) c.1805A>G (p.Lys602Arg) c.1583A>G (p.Lys528Arg) c.485+15670T>C (n.485+15670T>C) c.1475A>G (p.Lys492Arg) c.1790A>G (p.Lys597Arg) c.1745A>G (p.Lys582Arg) c.1652A>G (p.Lys551Arg) | |
9 | g.36219849T>G | CA373425487 | CLTA,GNE | c.1898A>C (p.Lys633Thr) c.1628A>C (p.Lys543Thr) c.1805A>C (p.Lys602Thr) c.1583A>C (p.Lys528Thr) c.485+15670T>G (n.485+15670T>G) c.1475A>C (p.Lys492Thr) c.1790A>C (p.Lys597Thr) c.1745A>C (p.Lys582Thr) c.1652A>C (p.Lys551Thr) | |
9 | g.36219854dup | CA2689944990 | CLTA,GNE | c.1898dup (p.Leu634AlafsTer3) c.1628dup (p.Leu544AlafsTer3) c.1805dup (p.Leu603AlafsTer3) c.1583dup (p.Leu529AlafsTer3) c.485+15675dup (n.485+15675dup) c.1475dup (p.Leu493AlafsTer3) c.1790dup (p.Leu598AlafsTer3) c.1745dup (p.Leu583AlafsTer3) c.1652dup (p.Leu552AlafsTer3) | gnomAD v4 |
9 | g.36219850T>A | CA373425488 | CLTA,GNE | c.1897A>T (p.Lys633Ter) c.1627A>T (p.Lys543Ter) c.1804A>T (p.Lys602Ter) c.1582A>T (p.Lys528Ter) c.485+15671T>A (n.485+15671T>A) c.1474A>T (p.Lys492Ter) c.1789A>T (p.Lys597Ter) c.1744A>T (p.Lys582Ter) c.1651A>T (p.Lys551Ter) | |
9 | g.36219850T>C | CA373425489 | CLTA,GNE | c.1897A>G (p.Lys633Glu) c.1627A>G (p.Lys543Glu) c.1804A>G (p.Lys602Glu) c.1582A>G (p.Lys528Glu) c.485+15671T>C (n.485+15671T>C) c.1474A>G (p.Lys492Glu) c.1789A>G (p.Lys597Glu) c.1744A>G (p.Lys582Glu) c.1651A>G (p.Lys551Glu) | |
9 | g.36219850T>G | CA373425490 | CLTA,GNE | c.1897A>C (p.Lys633Gln) c.1627A>C (p.Lys543Gln) c.1804A>C (p.Lys602Gln) c.1582A>C (p.Lys528Gln) c.485+15671T>G (n.485+15671T>G) c.1474A>C (p.Lys492Gln) c.1789A>C (p.Lys597Gln) c.1744A>C (p.Lys582Gln) c.1651A>C (p.Lys551Gln) | ClinVar dbSNP |
9 | g.36219851T>A | CA373425492 | CLTA,GNE | c.1896A>T (p.Lys632Asn) c.1626A>T (p.Lys542Asn) c.1803A>T (p.Lys601Asn) c.1581A>T (p.Lys527Asn) c.485+15672T>A (n.485+15672T>A) c.1473A>T (p.Lys491Asn) c.1788A>T (p.Lys596Asn) c.1743A>T (p.Lys581Asn) c.1650A>T (p.Lys550Asn) | |
9 | g.36219851T>C | CA464494934 | CLTA,GNE | c.1896A>G (p.Lys632=) c.1626A>G (p.Lys542=) c.1803A>G (p.Lys601=) c.1581A>G (p.Lys527=) c.485+15672T>C (n.485+15672T>C) c.1473A>G (p.Lys491=) c.1788A>G (p.Lys596=) c.1743A>G (p.Lys581=) c.1650A>G (p.Lys550=) | |
9 | g.36219851T>G | CA373425491 | CLTA,GNE | c.1896A>C (p.Lys632Asn) c.1626A>C (p.Lys542Asn) c.1803A>C (p.Lys601Asn) c.1581A>C (p.Lys527Asn) c.485+15672T>G (n.485+15672T>G) c.1473A>C (p.Lys491Asn) c.1788A>C (p.Lys596Asn) c.1743A>C (p.Lys581Asn) c.1650A>C (p.Lys550Asn) | |
9 | g.36219852T>A | CA373425493 | CLTA,GNE | c.1895A>T (p.Lys632Ile) c.1625A>T (p.Lys542Ile) c.1802A>T (p.Lys601Ile) c.1580A>T (p.Lys527Ile) c.485+15673T>A (n.485+15673T>A) c.1472A>T (p.Lys491Ile) c.1787A>T (p.Lys596Ile) c.1742A>T (p.Lys581Ile) c.1649A>T (p.Lys550Ile) | |
9 | g.36219852T>C | CA373425494 | CLTA,GNE | c.1895A>G (p.Lys632Arg) c.1625A>G (p.Lys542Arg) c.1802A>G (p.Lys601Arg) c.1580A>G (p.Lys527Arg) c.485+15673T>C (n.485+15673T>C) c.1472A>G (p.Lys491Arg) c.1787A>G (p.Lys596Arg) c.1742A>G (p.Lys581Arg) c.1649A>G (p.Lys550Arg) | |
9 | g.36219852T>G | CA373425495 | CLTA,GNE | c.1895A>C (p.Lys632Thr) c.1625A>C (p.Lys542Thr) c.1802A>C (p.Lys601Thr) c.1580A>C (p.Lys527Thr) c.485+15673T>G (n.485+15673T>G) c.1472A>C (p.Lys491Thr) c.1787A>C (p.Lys596Thr) c.1742A>C (p.Lys581Thr) c.1649A>C (p.Lys550Thr) | |
9 | g.36219853T>A | CA373425496 | CLTA,GNE | c.1894A>T (p.Lys632Ter) c.1624A>T (p.Lys542Ter) c.1801A>T (p.Lys601Ter) c.1579A>T (p.Lys527Ter) c.485+15674T>A (n.485+15674T>A) c.1471A>T (p.Lys491Ter) c.1786A>T (p.Lys596Ter) c.1741A>T (p.Lys581Ter) c.1648A>T (p.Lys550Ter) | |
9 | g.36219853T>C | CA373425497 | CLTA,GNE | c.1894A>G (p.Lys632Glu) c.1624A>G (p.Lys542Glu) c.1801A>G (p.Lys601Glu) c.1579A>G (p.Lys527Glu) c.485+15674T>C (n.485+15674T>C) c.1471A>G (p.Lys491Glu) c.1786A>G (p.Lys596Glu) c.1741A>G (p.Lys581Glu) c.1648A>G (p.Lys550Glu) | |
9 | g.36219853T>G | CA373425498 | CLTA,GNE | c.1894A>C (p.Lys632Gln) c.1624A>C (p.Lys542Gln) c.1801A>C (p.Lys601Gln) c.1579A>C (p.Lys527Gln) c.485+15674T>G (n.485+15674T>G) c.1471A>C (p.Lys491Gln) c.1786A>C (p.Lys596Gln) c.1741A>C (p.Lys581Gln) c.1648A>C (p.Lys550Gln) | |
9 | g.36219854T>A | CA464494935 | CLTA,GNE | c.1893A>T (p.Ala631=) c.1623A>T (p.Ala541=) c.1800A>T (p.Ala600=) c.1578A>T (p.Ala526=) c.485+15675T>A (n.485+15675T>A) c.1470A>T (p.Ala490=) c.1785A>T (p.Ala595=) c.1740A>T (p.Ala580=) c.1647A>T (p.Ala549=) | |
9 | g.36219854T>C | CA464494936 | CLTA,GNE | c.1893A>G (p.Ala631=) c.1623A>G (p.Ala541=) c.1800A>G (p.Ala600=) c.1578A>G (p.Ala526=) c.485+15675T>C (n.485+15675T>C) c.1470A>G (p.Ala490=) c.1785A>G (p.Ala595=) c.1740A>G (p.Ala580=) c.1647A>G (p.Ala549=) | |
9 | g.36219854T>G | CA464494937 | CLTA,GNE | c.1893A>C (p.Ala631=) c.1623A>C (p.Ala541=) c.1800A>C (p.Ala600=) c.1578A>C (p.Ala526=) c.485+15675T>G (n.485+15675T>G) c.1470A>C (p.Ala490=) c.1785A>C (p.Ala595=) c.1740A>C (p.Ala580=) c.1647A>C (p.Ala549=) | |
9 | g.36219855_36219858del | CA2689944991 | CLTA,GNE | c.1890_1893del (p.Ala631LysfsTer?) c.1620_1623del (p.Ala541LysfsTer?) c.1797_1800del (p.Ala600LysfsTer?) c.1575_1578del (p.Ala526LysfsTer?) c.485+15676_485+15679del (n.485+15676_485+15679del) c.1467_1470del (p.Ala490LysfsTer?) c.1782_1785del (p.Ala595LysfsTer?) c.1737_1740del (p.Ala580LysfsTer?) c.1644_1647del (p.Ala549LysfsTer?) | gnomAD v4 |
9 | g.36219854_36219861delinsTGCCTCCC | CA1846328343 | CLTA,GNE | c.1886_1893delinsGGGAGGCA (p.Arg629=) c.1616_1623delinsGGGAGGCA (p.Arg539=) c.1793_1800delinsGGGAGGCA (p.Arg598=) c.1571_1578delinsGGGAGGCA (p.Arg524=) c.485+15675_485+15682delinsTGCCTCCC (n.485+15675_485+15682delinsTGCCTCCC) c.1463_1470delinsGGGAGGCA (p.Arg488=) c.1778_1785delinsGGGAGGCA (p.Arg593=) c.1733_1740delinsGGGAGGCA (p.Arg578=) c.1640_1647delinsGGGAGGCA (p.Arg547=) | |
9 | g.36219855G>A | CA373425499 | CLTA,GNE | c.1892C>T (p.Ala631Val) c.1622C>T (p.Ala541Val) c.1799C>T (p.Ala600Val) c.1577C>T (p.Ala526Val) c.485+15676G>A (n.485+15676G>A) c.1469C>T (p.Ala490Val) c.1784C>T (p.Ala595Val) c.1739C>T (p.Ala580Val) c.1646C>T (p.Ala549Val) | |
9 | g.36219855G>C | CA373425500 | CLTA,GNE | c.1892C>G (p.Ala631Gly) c.1622C>G (p.Ala541Gly) c.1799C>G (p.Ala600Gly) c.1577C>G (p.Ala526Gly) c.485+15676G>C (n.485+15676G>C) c.1469C>G (p.Ala490Gly) c.1784C>G (p.Ala595Gly) c.1739C>G (p.Ala580Gly) c.1646C>G (p.Ala549Gly) | |
9 | g.36219855G>T | CA373425501 | CLTA,GNE | c.1892C>A (p.Ala631Glu) c.1622C>A (p.Ala541Glu) c.1799C>A (p.Ala600Glu) c.1577C>A (p.Ala526Glu) c.485+15676G>T (n.485+15676G>T) c.1469C>A (p.Ala490Glu) c.1784C>A (p.Ala595Glu) c.1739C>A (p.Ala580Glu) c.1646C>A (p.Ala549Glu) | |
9 | g.36219855_36219856delinsGC | CA1846328346 | CLTA,GNE | c.1891_1892delinsGC (p.Ala631=) c.1621_1622delinsGC (p.Ala541=) c.1798_1799delinsGC (p.Ala600=) c.1576_1577delinsGC (p.Ala526=) c.485+15676_485+15677delinsGC (n.485+15676_485+15677delinsGC) c.1468_1469delinsGC (p.Ala490=) c.1783_1784delinsGC (p.Ala595=) c.1738_1739delinsGC (p.Ala580=) c.1645_1646delinsGC (p.Ala549=) | |
9 | g.36219855_36219861del | CA587786759 | CLTA,GNE | c.1886_1892del (p.Arg629LysfsTer?) c.1616_1622del (p.Arg539LysfsTer?) c.1793_1799del (p.Arg598LysfsTer?) c.1571_1577del (p.Arg524LysfsTer?) c.485+15676_485+15682del (n.485+15676_485+15682del) c.1463_1469del (p.Arg488LysfsTer?) c.1778_1784del (p.Arg593LysfsTer?) c.1733_1739del (p.Arg578LysfsTer?) c.1640_1646del (p.Arg547LysfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36219856C>A | CA373425502 | CLTA,GNE | c.1891G>T (p.Ala631Ser) c.1621G>T (p.Ala541Ser) c.1798G>T (p.Ala600Ser) c.1576G>T (p.Ala526Ser) c.485+15677C>A (n.485+15677C>A) c.1468G>T (p.Ala490Ser) c.1783G>T (p.Ala595Ser) c.1738G>T (p.Ala580Ser) c.1645G>T (p.Ala549Ser) | |
9 | g.36219856C= | CA1846328356 | CLTA,GNE | c.1891G= (p.Ala631=) c.1621G= (p.Ala541=) c.1798G= (p.Ala600=) c.1576G= (p.Ala526=) c.485+15677C= (n.485+15677C=) c.1468G= (p.Ala490=) c.1783G= (p.Ala595=) c.1738G= (p.Ala580=) c.1645G= (p.Ala549=) | |
9 | g.36219856C>G | CA373425503 | CLTA,GNE | c.1891G>C (p.Ala631Pro) c.1621G>C (p.Ala541Pro) c.1798G>C (p.Ala600Pro) c.1576G>C (p.Ala526Pro) c.485+15677C>G (n.485+15677C>G) c.1468G>C (p.Ala490Pro) c.1783G>C (p.Ala595Pro) c.1738G>C (p.Ala580Pro) c.1645G>C (p.Ala549Pro) | |
9 | g.36219856C>T | CA10605332 | CLTA,GNE | c.1891G>A (p.Ala631Thr) c.1621G>A (p.Ala541Thr) c.1798G>A (p.Ala600Thr) c.1576G>A (p.Ala526Thr) c.485+15677C>T (n.485+15677C>T) c.1468G>A (p.Ala490Thr) c.1783G>A (p.Ala595Thr) c.1738G>A (p.Ala580Thr) c.1645G>A (p.Ala549Thr) | ClinVar dbSNP gnomAD v4 |
9 | g.36219857del | CA863603977 | CLTA,GNE | c.1891del (p.Ala631GlnfsTer?) c.1621del (p.Ala541GlnfsTer?) c.1798del (p.Ala600GlnfsTer?) c.1576del (p.Ala526GlnfsTer?) c.485+15678del (n.485+15678del) c.1468del (p.Ala490GlnfsTer?) c.1783del (p.Ala595GlnfsTer?) c.1738del (p.Ala580GlnfsTer?) c.1645del (p.Ala549GlnfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36219857C>A | CA373425505 | CLTA,GNE | c.1890G>T (p.Glu630Asp) c.1620G>T (p.Glu540Asp) c.1797G>T (p.Glu599Asp) c.1575G>T (p.Glu525Asp) c.485+15678C>A (n.485+15678C>A) c.1467G>T (p.Glu489Asp) c.1782G>T (p.Glu594Asp) c.1737G>T (p.Glu579Asp) c.1644G>T (p.Glu548Asp) | |
9 | g.36219857C= | CA1846328404 | CLTA,GNE | c.1890G= (p.Glu630=) c.1620G= (p.Glu540=) c.1797G= (p.Glu599=) c.1575G= (p.Glu525=) c.485+15678C= (n.485+15678C=) c.1467G= (p.Glu489=) c.1782G= (p.Glu594=) c.1737G= (p.Glu579=) c.1644G= (p.Glu548=) | |
9 | g.36219857C>G | CA373425504 | CLTA,GNE | c.1890G>C (p.Glu630Asp) c.1620G>C (p.Glu540Asp) c.1797G>C (p.Glu599Asp) c.1575G>C (p.Glu525Asp) c.485+15678C>G (n.485+15678C>G) c.1467G>C (p.Glu489Asp) c.1782G>C (p.Glu594Asp) c.1737G>C (p.Glu579Asp) c.1644G>C (p.Glu548Asp) | |
9 | g.36219857C>T | CA5056425 | CLTA,GNE | c.1890G>A (p.Glu630=) c.1620G>A (p.Glu540=) c.1797G>A (p.Glu599=) c.1575G>A (p.Glu525=) c.485+15678C>T (n.485+15678C>T) c.1467G>A (p.Glu489=) c.1782G>A (p.Glu594=) c.1737G>A (p.Glu579=) c.1644G>A (p.Glu548=) | dbSNP ExAC gnomAD v2 |
9 | g.36219858T>A | CA373425506 | CLTA,GNE | c.1889A>T (p.Glu630Val) c.1619A>T (p.Glu540Val) c.1796A>T (p.Glu599Val) c.1574A>T (p.Glu525Val) c.485+15679T>A (n.485+15679T>A) c.1466A>T (p.Glu489Val) c.1781A>T (p.Glu594Val) c.1736A>T (p.Glu579Val) c.1643A>T (p.Glu548Val) | gnomAD v4 |
9 | g.36219858T>C | CA373425507 | CLTA,GNE | c.1889A>G (p.Glu630Gly) c.1619A>G (p.Glu540Gly) c.1796A>G (p.Glu599Gly) c.1574A>G (p.Glu525Gly) c.485+15679T>C (n.485+15679T>C) c.1466A>G (p.Glu489Gly) c.1781A>G (p.Glu594Gly) c.1736A>G (p.Glu579Gly) c.1643A>G (p.Glu548Gly) | |
9 | g.36219858T>G | CA373425508 | CLTA,GNE | c.1889A>C (p.Glu630Ala) c.1619A>C (p.Glu540Ala) c.1796A>C (p.Glu599Ala) c.1574A>C (p.Glu525Ala) c.485+15679T>G (n.485+15679T>G) c.1466A>C (p.Glu489Ala) c.1781A>C (p.Glu594Ala) c.1736A>C (p.Glu579Ala) c.1643A>C (p.Glu548Ala) | |
9 | g.36219859C>A | CA5056426 | CLTA,GNE | c.1888G>T (p.Glu630Ter) c.1618G>T (p.Glu540Ter) c.1795G>T (p.Glu599Ter) c.1573G>T (p.Glu525Ter) c.485+15680C>A (n.485+15680C>A) c.1465G>T (p.Glu489Ter) c.1780G>T (p.Glu594Ter) c.1735G>T (p.Glu579Ter) c.1642G>T (p.Glu548Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36219859C= | CA1846328422 | CLTA,GNE | c.1888G= (p.Glu630=) c.1618G= (p.Glu540=) c.1795G= (p.Glu599=) c.1573G= (p.Glu525=) c.485+15680C= (n.485+15680C=) c.1465G= (p.Glu489=) c.1780G= (p.Glu594=) c.1735G= (p.Glu579=) c.1642G= (p.Glu548=) | |
9 | g.36219859C>G | CA373425509 | CLTA,GNE | c.1888G>C (p.Glu630Gln) c.1618G>C (p.Glu540Gln) c.1795G>C (p.Glu599Gln) c.1573G>C (p.Glu525Gln) c.485+15680C>G (n.485+15680C>G) c.1465G>C (p.Glu489Gln) c.1780G>C (p.Glu594Gln) c.1735G>C (p.Glu579Gln) c.1642G>C (p.Glu548Gln) | |
9 | g.36219859C>T | CA373425510 | CLTA,GNE | c.1888G>A (p.Glu630Lys) c.1618G>A (p.Glu540Lys) c.1795G>A (p.Glu599Lys) c.1573G>A (p.Glu525Lys) c.485+15680C>T (n.485+15680C>T) c.1465G>A (p.Glu489Lys) c.1780G>A (p.Glu594Lys) c.1735G>A (p.Glu579Lys) c.1642G>A (p.Glu548Lys) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36219860C>A | CA373425511 | CLTA,GNE | c.1887G>T (p.Arg629Ser) c.1617G>T (p.Arg539Ser) c.1794G>T (p.Arg598Ser) c.1572G>T (p.Arg524Ser) c.485+15681C>A (n.485+15681C>A) c.1464G>T (p.Arg488Ser) c.1779G>T (p.Arg593Ser) c.1734G>T (p.Arg578Ser) c.1641G>T (p.Arg547Ser) | |
9 | g.36219860C= | CA1846328427 | CLTA,GNE | c.1887G= (p.Arg629=) c.1617G= (p.Arg539=) c.1794G= (p.Arg598=) c.1572G= (p.Arg524=) c.485+15681C= (n.485+15681C=) c.1464G= (p.Arg488=) c.1779G= (p.Arg593=) c.1734G= (p.Arg578=) c.1641G= (p.Arg547=) | |
9 | g.36219860C>G | CA373425512 | CLTA,GNE | c.1887G>C (p.Arg629Ser) c.1617G>C (p.Arg539Ser) c.1794G>C (p.Arg598Ser) c.1572G>C (p.Arg524Ser) c.485+15681C>G (n.485+15681C>G) c.1464G>C (p.Arg488Ser) c.1779G>C (p.Arg593Ser) c.1734G>C (p.Arg578Ser) c.1641G>C (p.Arg547Ser) | |
9 | g.36219860C>T | CA464494938 | CLTA,GNE | c.1887G>A (p.Arg629=) c.1617G>A (p.Arg539=) c.1794G>A (p.Arg598=) c.1572G>A (p.Arg524=) c.485+15681C>T (n.485+15681C>T) c.1464G>A (p.Arg488=) c.1779G>A (p.Arg593=) c.1734G>A (p.Arg578=) c.1641G>A (p.Arg547=) | ClinVar |
9 | g.36219860_36219861insATGG | CA1123242785 | CLTA,GNE | c.1886_1887insCCAT (p.Arg629SerfsTer9) c.1616_1617insCCAT (p.Arg539SerfsTer9) c.1793_1794insCCAT (p.Arg598SerfsTer9) c.1571_1572insCCAT (p.Arg524SerfsTer9) c.485+15681_485+15682insATGG (n.485+15681_485+15682insATGG) c.1463_1464insCCAT (p.Arg488SerfsTer9) c.1778_1779insCCAT (p.Arg593SerfsTer9) c.1733_1734insCCAT (p.Arg578SerfsTer9) c.1640_1641insCCAT (p.Arg547SerfsTer9) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36219860_36219861insATGGCTT | CA1846328440 | CLTA,GNE | c.1886_1887insAAGCCAT (p.Glu630SerfsTer9) c.1616_1617insAAGCCAT (p.Glu540SerfsTer9) c.1793_1794insAAGCCAT (p.Glu599SerfsTer9) c.1571_1572insAAGCCAT (p.Glu525SerfsTer9) c.485+15681_485+15682insATGGCTT (n.485+15681_485+15682insATGGCTT) c.1463_1464insAAGCCAT (p.Glu489SerfsTer9) c.1778_1779insAAGCCAT (p.Glu594SerfsTer9) c.1733_1734insAAGCCAT (p.Glu579SerfsTer9) c.1640_1641insAAGCCAT (p.Glu548SerfsTer9) | dbSNP |
9 | g.36219861C>A | CA373425513 | CLTA,GNE | c.1886G>T (p.Arg629Met) c.1616G>T (p.Arg539Met) c.1793G>T (p.Arg598Met) c.1571G>T (p.Arg524Met) c.485+15682C>A (n.485+15682C>A) c.1463G>T (p.Arg488Met) c.1778G>T (p.Arg593Met) c.1733G>T (p.Arg578Met) c.1640G>T (p.Arg547Met) | |
9 | g.36219861C= | CA1846328442 | CLTA,GNE | c.1886G= (p.Arg629=) c.1616G= (p.Arg539=) c.1793G= (p.Arg598=) c.1571G= (p.Arg524=) c.485+15682C= (n.485+15682C=) c.1463G= (p.Arg488=) c.1778G= (p.Arg593=) c.1733G= (p.Arg578=) c.1640G= (p.Arg547=) | |
9 | g.36219861C>G | CA373425514 | CLTA,GNE | c.1886G>C (p.Arg629Thr) c.1616G>C (p.Arg539Thr) c.1793G>C (p.Arg598Thr) c.1571G>C (p.Arg524Thr) c.485+15682C>G (n.485+15682C>G) c.1463G>C (p.Arg488Thr) c.1778G>C (p.Arg593Thr) c.1733G>C (p.Arg578Thr) c.1640G>C (p.Arg547Thr) | |
9 | g.36219861C>T | CA373425515 | CLTA,GNE | c.1886G>A (p.Arg629Lys) c.1616G>A (p.Arg539Lys) c.1793G>A (p.Arg598Lys) c.1571G>A (p.Arg524Lys) c.485+15682C>T (n.485+15682C>T) c.1463G>A (p.Arg488Lys) c.1778G>A (p.Arg593Lys) c.1733G>A (p.Arg578Lys) c.1640G>A (p.Arg547Lys) | dbSNP |
9 | g.36219863_36219864dup | CA587786760 | CLTA,GNE | c.1885_1886dup (p.Glu630GlyfsTer?) c.1615_1616dup (p.Glu540GlyfsTer?) c.1792_1793dup (p.Glu599GlyfsTer?) c.1570_1571dup (p.Glu525GlyfsTer?) c.485+15684_485+15685dup (n.485+15684_485+15685dup) c.1462_1463dup (p.Glu489GlyfsTer?) c.1777_1778dup (p.Glu594GlyfsTer?) c.1732_1733dup (p.Glu579GlyfsTer?) c.1639_1640dup (p.Glu548GlyfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36219861_36219862insCT | CA2837995500 | CLTA,GNE | c.1885_1886insAG (p.Arg629LysfsTer?) c.1615_1616insAG (p.Arg539LysfsTer?) c.1792_1793insAG (p.Arg598LysfsTer?) c.1570_1571insAG (p.Arg524LysfsTer?) c.485+15682_485+15683insCT (n.485+15682_485+15683insCT) c.1462_1463insAG (p.Arg488LysfsTer?) c.1777_1778insAG (p.Arg593LysfsTer?) c.1732_1733insAG (p.Arg578LysfsTer?) c.1639_1640insAG (p.Arg547LysfsTer?) | |
9 | g.36219862T>A | CA373425516 | CLTA,GNE | c.1885A>T (p.Arg629Trp) c.1615A>T (p.Arg539Trp) c.1792A>T (p.Arg598Trp) c.1570A>T (p.Arg524Trp) c.485+15683T>A (n.485+15683T>A) c.1462A>T (p.Arg488Trp) c.1777A>T (p.Arg593Trp) c.1732A>T (p.Arg578Trp) c.1639A>T (p.Arg547Trp) | |
9 | g.36219862T>C | CA373425517 | CLTA,GNE | c.1885A>G (p.Arg629Gly) c.1615A>G (p.Arg539Gly) c.1792A>G (p.Arg598Gly) c.1570A>G (p.Arg524Gly) c.485+15683T>C (n.485+15683T>C) c.1462A>G (p.Arg488Gly) c.1777A>G (p.Arg593Gly) c.1732A>G (p.Arg578Gly) c.1639A>G (p.Arg547Gly) | |
9 | g.36219862T>G | CA464494939 | CLTA,GNE | c.1885A>C (p.Arg629=) c.1615A>C (p.Arg539=) c.1792A>C (p.Arg598=) c.1570A>C (p.Arg524=) c.485+15683T>G (n.485+15683T>G) c.1462A>C (p.Arg488=) c.1777A>C (p.Arg593=) c.1732A>C (p.Arg578=) c.1639A>C (p.Arg547=) | |
9 | g.36219862_36219863insTTT | CA1123242787 | CLTA,GNE | c.1885_1886insAAA (p.Gln628_Arg629insLys) c.1615_1616insAAA (p.Gln538_Arg539insLys) c.1792_1793insAAA (p.Gln597_Arg598insLys) c.1570_1571insAAA (p.Gln523_Arg524insLys) c.485+15683_485+15684insTTT (n.485+15683_485+15684insTTT) c.1462_1463insAAA (p.Gln487_Arg488insLys) c.1777_1778insAAA (p.Gln592_Arg593insLys) c.1732_1733insAAA (p.Gln577_Arg578insLys) c.1639_1640insAAA (p.Gln546_Arg547insLys) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36219863C>A | CA373425519 | CLTA,GNE | c.1884G>T (p.Gln628His) c.1614G>T (p.Gln538His) c.1791G>T (p.Gln597His) c.1569G>T (p.Gln523His) c.485+15684C>A (n.485+15684C>A) c.1461G>T (p.Gln487His) c.1776G>T (p.Gln592His) c.1731G>T (p.Gln577His) c.1638G>T (p.Gln546His) | |
9 | g.36219863C= | CA1846328457 | CLTA,GNE | c.1884G= (p.Gln628=) c.1614G= (p.Gln538=) c.1791G= (p.Gln597=) c.1569G= (p.Gln523=) c.485+15684C= (n.485+15684C=) c.1461G= (p.Gln487=) c.1776G= (p.Gln592=) c.1731G= (p.Gln577=) c.1638G= (p.Gln546=) | |
9 | g.36219863C>G | CA373425518 | CLTA,GNE | c.1884G>C (p.Gln628His) c.1614G>C (p.Gln538His) c.1791G>C (p.Gln597His) c.1569G>C (p.Gln523His) c.485+15684C>G (n.485+15684C>G) c.1461G>C (p.Gln487His) c.1776G>C (p.Gln592His) c.1731G>C (p.Gln577His) c.1638G>C (p.Gln546His) | |
9 | g.36219863C>T | CA464494940 | CLTA,GNE | c.1884G>A (p.Gln628=) c.1614G>A (p.Gln538=) c.1791G>A (p.Gln597=) c.1569G>A (p.Gln523=) c.485+15684C>T (n.485+15684C>T) c.1461G>A (p.Gln487=) c.1776G>A (p.Gln592=) c.1731G>A (p.Gln577=) c.1638G>A (p.Gln546=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.36219864T>A | CA373425520 | CLTA,GNE | c.1883A>T (p.Gln628Leu) c.1613A>T (p.Gln538Leu) c.1790A>T (p.Gln597Leu) c.1568A>T (p.Gln523Leu) c.485+15685T>A (n.485+15685T>A) c.1460A>T (p.Gln487Leu) c.1775A>T (p.Gln592Leu) c.1730A>T (p.Gln577Leu) c.1637A>T (p.Gln546Leu) | |
9 | g.36219864T>C | CA373425521 | CLTA,GNE | c.1883A>G (p.Gln628Arg) c.1613A>G (p.Gln538Arg) c.1790A>G (p.Gln597Arg) c.1568A>G (p.Gln523Arg) c.485+15685T>C (n.485+15685T>C) c.1460A>G (p.Gln487Arg) c.1775A>G (p.Gln592Arg) c.1730A>G (p.Gln577Arg) c.1637A>G (p.Gln546Arg) | |
9 | g.36219864T>G | CA373425522 | CLTA,GNE | c.1883A>C (p.Gln628Pro) c.1613A>C (p.Gln538Pro) c.1790A>C (p.Gln597Pro) c.1568A>C (p.Gln523Pro) c.485+15685T>G (n.485+15685T>G) c.1460A>C (p.Gln487Pro) c.1775A>C (p.Gln592Pro) c.1730A>C (p.Gln577Pro) c.1637A>C (p.Gln546Pro) | |
9 | g.36219865G>A | CA373425523 | CLTA,GNE | c.1882C>T (p.Gln628Ter) c.1612C>T (p.Gln538Ter) c.1789C>T (p.Gln597Ter) c.1567C>T (p.Gln523Ter) c.485+15686G>A (n.485+15686G>A) c.1459C>T (p.Gln487Ter) c.1774C>T (p.Gln592Ter) c.1729C>T (p.Gln577Ter) c.1636C>T (p.Gln546Ter) | ClinVar dbSNP |
9 | g.36219865G>C | CA373425524 | CLTA,GNE | c.1882C>G (p.Gln628Glu) c.1612C>G (p.Gln538Glu) c.1789C>G (p.Gln597Glu) c.1567C>G (p.Gln523Glu) c.485+15686G>C (n.485+15686G>C) c.1459C>G (p.Gln487Glu) c.1774C>G (p.Gln592Glu) c.1729C>G (p.Gln577Glu) c.1636C>G (p.Gln546Glu) | |
9 | g.36219865G>T | CA373425525 | CLTA,GNE | c.1882C>A (p.Gln628Lys) c.1612C>A (p.Gln538Lys) c.1789C>A (p.Gln597Lys) c.1567C>A (p.Gln523Lys) c.485+15686G>T (n.485+15686G>T) c.1459C>A (p.Gln487Lys) c.1774C>A (p.Gln592Lys) c.1729C>A (p.Gln577Lys) c.1636C>A (p.Gln546Lys) | |
9 | g.36219866C>A | CA373425526 | CLTA,GNE | c.1881G>T (p.Leu627Phe) c.1611G>T (p.Leu537Phe) c.1788G>T (p.Leu596Phe) c.1566G>T (p.Leu522Phe) c.485+15687C>A (n.485+15687C>A) c.1458G>T (p.Leu486Phe) c.1773G>T (p.Leu591Phe) c.1728G>T (p.Leu576Phe) c.1635G>T (p.Leu545Phe) | |
9 | g.36219866C= | CA1846328462 | CLTA,GNE | c.1881G= (p.Leu627=) c.1611G= (p.Leu537=) c.1788G= (p.Leu596=) c.1566G= (p.Leu522=) c.485+15687C= (n.485+15687C=) c.1458G= (p.Leu486=) c.1773G= (p.Leu591=) c.1728G= (p.Leu576=) c.1635G= (p.Leu545=) | |
9 | g.36219866C>G | CA373425527 | CLTA,GNE | c.1881G>C (p.Leu627Phe) c.1611G>C (p.Leu537Phe) c.1788G>C (p.Leu596Phe) c.1566G>C (p.Leu522Phe) c.485+15687C>G (n.485+15687C>G) c.1458G>C (p.Leu486Phe) c.1773G>C (p.Leu591Phe) c.1728G>C (p.Leu576Phe) c.1635G>C (p.Leu545Phe) | |
9 | g.36219866C>T | CA464494941 | CLTA,GNE | c.1881G>A (p.Leu627=) c.1611G>A (p.Leu537=) c.1788G>A (p.Leu596=) c.1566G>A (p.Leu522=) c.485+15687C>T (n.485+15687C>T) c.1458G>A (p.Leu486=) c.1773G>A (p.Leu591=) c.1728G>A (p.Leu576=) c.1635G>A (p.Leu545=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.36219867A= | CA1846328468 | CLTA,GNE | c.1880T= (p.Leu627=) c.1610T= (p.Leu537=) c.1787T= (p.Leu596=) c.1565T= (p.Leu522=) c.485+15688A= (n.485+15688A=) c.1457T= (p.Leu486=) c.1772T= (p.Leu591=) c.1727T= (p.Leu576=) c.1634T= (p.Leu545=) | |
9 | g.36219867A>C | CA373425528 | CLTA,GNE | c.1880T>G (p.Leu627Trp) c.1610T>G (p.Leu537Trp) c.1787T>G (p.Leu596Trp) c.1565T>G (p.Leu522Trp) c.485+15688A>C (n.485+15688A>C) c.1457T>G (p.Leu486Trp) c.1772T>G (p.Leu591Trp) c.1727T>G (p.Leu576Trp) c.1634T>G (p.Leu545Trp) | |
9 | g.36219867A>G | CA192841314 | CLTA,GNE | c.1880T>C (p.Leu627Ser) c.1610T>C (p.Leu537Ser) c.1787T>C (p.Leu596Ser) c.1565T>C (p.Leu522Ser) c.485+15688A>G (n.485+15688A>G) c.1457T>C (p.Leu486Ser) c.1772T>C (p.Leu591Ser) c.1727T>C (p.Leu576Ser) c.1634T>C (p.Leu545Ser) | dbSNP |
9 | g.36219867A>T | CA373425529 | CLTA,GNE | c.1880T>A (p.Leu627Ter) c.1610T>A (p.Leu537Ter) c.1787T>A (p.Leu596Ter) c.1565T>A (p.Leu522Ter) c.485+15688A>T (n.485+15688A>T) c.1457T>A (p.Leu486Ter) c.1772T>A (p.Leu591Ter) c.1727T>A (p.Leu576Ter) c.1634T>A (p.Leu545Ter) | ClinVar |
9 | g.36219867_36219879delinsAAGGCCATTCCAG | CA1846328470 | CLTA,GNE | c.1868_1880delinsCTGGAATGGCCTT (p.Ser623=) c.1598_1610delinsCTGGAATGGCCTT (p.Ser533=) c.1775_1787delinsCTGGAATGGCCTT (p.Ser592=) c.1553_1565delinsCTGGAATGGCCTT (p.Ser518=) c.485+15688_485+15700delinsAAGGCCATTCCAG (n.485+15688_485+15700delinsAAGGCCATTCCAG) c.1445_1457delinsCTGGAATGGCCTT (p.Ser482=) c.1760_1772delinsCTGGAATGGCCTT (p.Ser587=) c.1715_1727delinsCTGGAATGGCCTT (p.Ser572=) c.1622_1634delinsCTGGAATGGCCTT (p.Ser541=) | |
9 | g.36219868A>C | CA373425530 | CLTA,GNE | c.1879T>G (p.Leu627Val) c.1609T>G (p.Leu537Val) c.1786T>G (p.Leu596Val) c.1564T>G (p.Leu522Val) c.485+15689A>C (n.485+15689A>C) c.1456T>G (p.Leu486Val) c.1771T>G (p.Leu591Val) c.1726T>G (p.Leu576Val) c.1633T>G (p.Leu545Val) | |
9 | g.36219868A>G | CA464494942 | CLTA,GNE | c.1879T>C (p.Leu627=) c.1609T>C (p.Leu537=) c.1786T>C (p.Leu596=) c.1564T>C (p.Leu522=) c.485+15689A>G (n.485+15689A>G) c.1456T>C (p.Leu486=) c.1771T>C (p.Leu591=) c.1726T>C (p.Leu576=) c.1633T>C (p.Leu545=) | gnomAD v4 |
9 | g.36219868A>T | CA373425531 | CLTA,GNE | c.1879T>A (p.Leu627Met) c.1609T>A (p.Leu537Met) c.1786T>A (p.Leu596Met) c.1564T>A (p.Leu522Met) c.485+15689A>T (n.485+15689A>T) c.1456T>A (p.Leu486Met) c.1771T>A (p.Leu591Met) c.1726T>A (p.Leu576Met) c.1633T>A (p.Leu545Met) | |
9 | g.36219872_36219883del | CA1139660951 | CLTA,GNE | c.1868_1879del (p.Ser623_Ala626del) c.1598_1609del (p.Ser533_Ala536del) c.1775_1786del (p.Ser592_Ala595del) c.1553_1564del (p.Ser518_Ala521del) c.485+15693_485+15704del (n.485+15693_485+15704del) c.1445_1456del (p.Ser482_Ala485del) c.1760_1771del (p.Ser587_Ala590del) c.1715_1726del (p.Ser572_Ala575del) c.1622_1633del (p.Ser541_Ala544del) | ClinVar dbSNP |
9 | g.36219869G>A | CA464494943 | CLTA,GNE | c.1878C>T (p.Ala626=) c.1608C>T (p.Ala536=) c.1785C>T (p.Ala595=) c.1563C>T (p.Ala521=) c.485+15690G>A (n.485+15690G>A) c.1455C>T (p.Ala485=) c.1770C>T (p.Ala590=) c.1725C>T (p.Ala575=) c.1632C>T (p.Ala544=) | |
9 | g.36219869G>C | CA464494944 | CLTA,GNE | c.1878C>G (p.Ala626=) c.1608C>G (p.Ala536=) c.1785C>G (p.Ala595=) c.1563C>G (p.Ala521=) c.485+15690G>C (n.485+15690G>C) c.1455C>G (p.Ala485=) c.1770C>G (p.Ala590=) c.1725C>G (p.Ala575=) c.1632C>G (p.Ala544=) | |
9 | g.36219869G= | CA1846328481 | CLTA,GNE | c.1878C= (p.Ala626=) c.1608C= (p.Ala536=) c.1785C= (p.Ala595=) c.1563C= (p.Ala521=) c.485+15690G= (n.485+15690G=) c.1455C= (p.Ala485=) c.1770C= (p.Ala590=) c.1725C= (p.Ala575=) c.1632C= (p.Ala544=) | |
9 | g.36219869G>T | CA5056427 | CLTA,GNE | c.1878C>A (p.Ala626=) c.1608C>A (p.Ala536=) c.1785C>A (p.Ala595=) c.1563C>A (p.Ala521=) c.485+15690G>T (n.485+15690G>T) c.1455C>A (p.Ala485=) c.1770C>A (p.Ala590=) c.1725C>A (p.Ala575=) c.1632C>A (p.Ala544=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36219870G>A | CA373425533 | CLTA,GNE | c.1877C>T (p.Ala626Val) c.1607C>T (p.Ala536Val) c.1784C>T (p.Ala595Val) c.1562C>T (p.Ala521Val) c.485+15691G>A (n.485+15691G>A) c.1454C>T (p.Ala485Val) c.1769C>T (p.Ala590Val) c.1724C>T (p.Ala575Val) c.1631C>T (p.Ala544Val) | |
9 | g.36219870G>C | CA373425534 | CLTA,GNE | c.1877C>G (p.Ala626Gly) c.1607C>G (p.Ala536Gly) c.1784C>G (p.Ala595Gly) c.1562C>G (p.Ala521Gly) c.485+15691G>C (n.485+15691G>C) c.1454C>G (p.Ala485Gly) c.1769C>G (p.Ala590Gly) c.1724C>G (p.Ala575Gly) c.1631C>G (p.Ala544Gly) | |
9 | g.36219870G>T | CA373425532 | CLTA,GNE | c.1877C>A (p.Ala626Asp) c.1607C>A (p.Ala536Asp) c.1784C>A (p.Ala595Asp) c.1562C>A (p.Ala521Asp) c.485+15691G>T (n.485+15691G>T) c.1454C>A (p.Ala485Asp) c.1769C>A (p.Ala590Asp) c.1724C>A (p.Ala575Asp) c.1631C>A (p.Ala544Asp) | |
9 | g.36219871C>A | CA373425536 | CLTA,GNE | c.1876G>T (p.Ala626Ser) c.1606G>T (p.Ala536Ser) c.1783G>T (p.Ala595Ser) c.1561G>T (p.Ala521Ser) c.485+15692C>A (n.485+15692C>A) c.1453G>T (p.Ala485Ser) c.1768G>T (p.Ala590Ser) c.1723G>T (p.Ala575Ser) c.1630G>T (p.Ala544Ser) | |
9 | g.36219871C= | CA1846328483 | CLTA,GNE | c.1876G= (p.Ala626=) c.1606G= (p.Ala536=) c.1783G= (p.Ala595=) c.1561G= (p.Ala521=) c.485+15692C= (n.485+15692C=) c.1453G= (p.Ala485=) c.1768G= (p.Ala590=) c.1723G= (p.Ala575=) c.1630G= (p.Ala544=) | |
9 | g.36219871C>G | CA373425535 | CLTA,GNE | c.1876G>C (p.Ala626Pro) c.1606G>C (p.Ala536Pro) c.1783G>C (p.Ala595Pro) c.1561G>C (p.Ala521Pro) c.485+15692C>G (n.485+15692C>G) c.1453G>C (p.Ala485Pro) c.1768G>C (p.Ala590Pro) c.1723G>C (p.Ala575Pro) c.1630G>C (p.Ala544Pro) | |
9 | g.36219871C>T | CA373425537 | CLTA,GNE | c.1876G>A (p.Ala626Thr) c.1606G>A (p.Ala536Thr) c.1783G>A (p.Ala595Thr) c.1561G>A (p.Ala521Thr) c.485+15692C>T (n.485+15692C>T) c.1453G>A (p.Ala485Thr) c.1768G>A (p.Ala590Thr) c.1723G>A (p.Ala575Thr) c.1630G>A (p.Ala544Thr) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36219872C>A | CA373425538 | CLTA,GNE | c.1875G>T (p.Met625Ile) c.1605G>T (p.Met535Ile) c.1782G>T (p.Met594Ile) c.1560G>T (p.Met520Ile) c.485+15693C>A (n.485+15693C>A) c.1452G>T (p.Met484Ile) c.1767G>T (p.Met589Ile) c.1722G>T (p.Met574Ile) c.1629G>T (p.Met543Ile) | |
9 | g.36219872C>G | CA373425539 | CLTA,GNE | c.1875G>C (p.Met625Ile) c.1605G>C (p.Met535Ile) c.1782G>C (p.Met594Ile) c.1560G>C (p.Met520Ile) c.485+15693C>G (n.485+15693C>G) c.1452G>C (p.Met484Ile) c.1767G>C (p.Met589Ile) c.1722G>C (p.Met574Ile) c.1629G>C (p.Met543Ile) | |
9 | g.36219872C>T | CA373425540 | CLTA,GNE | c.1875G>A (p.Met625Ile) c.1605G>A (p.Met535Ile) c.1782G>A (p.Met594Ile) c.1560G>A (p.Met520Ile) c.485+15693C>T (n.485+15693C>T) c.1452G>A (p.Met484Ile) c.1767G>A (p.Met589Ile) c.1722G>A (p.Met574Ile) c.1629G>A (p.Met543Ile) | |
9 | g.36219872_36219873delinsCA | CA1846328489 | CLTA,GNE | c.1874_1875delinsTG (p.Met625=) c.1604_1605delinsTG (p.Met535=) c.1781_1782delinsTG (p.Met594=) c.1559_1560delinsTG (p.Met520=) c.485+15693_485+15694delinsCA (n.485+15693_485+15694delinsCA) c.1451_1452delinsTG (p.Met484=) c.1766_1767delinsTG (p.Met589=) c.1721_1722delinsTG (p.Met574=) c.1628_1629delinsTG (p.Met543=) | |
9 | g.36219873del | CA16041309 | CLTA,GNE | c.1874del (p.Met625ArgfsTer?) c.1604del (p.Met535ArgfsTer?) c.1781del (p.Met594ArgfsTer?) c.1559del (p.Met520ArgfsTer?) c.485+15694del (n.485+15694del) c.1451del (p.Met484ArgfsTer?) c.1766del (p.Met589ArgfsTer?) c.1721del (p.Met574ArgfsTer?) c.1628del (p.Met543ArgfsTer?) | ClinVar dbSNP |
9 | g.36219873A= | CA1846328501 | CLTA,GNE | c.1874T= (p.Met625=) c.1604T= (p.Met535=) c.1781T= (p.Met594=) c.1559T= (p.Met520=) c.485+15694A= (n.485+15694A=) c.1451T= (p.Met484=) c.1766T= (p.Met589=) c.1721T= (p.Met574=) c.1628T= (p.Met543=) | |
9 | g.36219873A>C | CA373425541 | CLTA,GNE | c.1874T>G (p.Met625Arg) c.1604T>G (p.Met535Arg) c.1781T>G (p.Met594Arg) c.1559T>G (p.Met520Arg) c.485+15694A>C (n.485+15694A>C) c.1451T>G (p.Met484Arg) c.1766T>G (p.Met589Arg) c.1721T>G (p.Met574Arg) c.1628T>G (p.Met543Arg) | |
9 | g.36219873A>G | CA373425542 | CLTA,GNE | c.1874T>C (p.Met625Thr) c.1604T>C (p.Met535Thr) c.1781T>C (p.Met594Thr) c.1559T>C (p.Met520Thr) c.485+15694A>G (n.485+15694A>G) c.1451T>C (p.Met484Thr) c.1766T>C (p.Met589Thr) c.1721T>C (p.Met574Thr) c.1628T>C (p.Met543Thr) | dbSNP gnomAD v2 |
9 | g.36219873A>T | CA373425543 | CLTA,GNE | c.1874T>A (p.Met625Lys) c.1604T>A (p.Met535Lys) c.1781T>A (p.Met594Lys) c.1559T>A (p.Met520Lys) c.485+15694A>T (n.485+15694A>T) c.1451T>A (p.Met484Lys) c.1766T>A (p.Met589Lys) c.1721T>A (p.Met574Lys) c.1628T>A (p.Met543Lys) | |
9 | g.36219874T>A | CA373425544 | CLTA,GNE | c.1873A>T (p.Met625Leu) c.1603A>T (p.Met535Leu) c.1780A>T (p.Met594Leu) c.1558A>T (p.Met520Leu) c.485+15695T>A (n.485+15695T>A) c.1450A>T (p.Met484Leu) c.1765A>T (p.Met589Leu) c.1720A>T (p.Met574Leu) c.1627A>T (p.Met543Leu) | |
9 | g.36219874T>C | CA373425545 | CLTA,GNE | c.1873A>G (p.Met625Val) c.1603A>G (p.Met535Val) c.1780A>G (p.Met594Val) c.1558A>G (p.Met520Val) c.485+15695T>C (n.485+15695T>C) c.1450A>G (p.Met484Val) c.1765A>G (p.Met589Val) c.1720A>G (p.Met574Val) c.1627A>G (p.Met543Val) | |
9 | g.36219874T>G | CA373425546 | CLTA,GNE | c.1873A>C (p.Met625Leu) c.1603A>C (p.Met535Leu) c.1780A>C (p.Met594Leu) c.1558A>C (p.Met520Leu) c.485+15695T>G (n.485+15695T>G) c.1450A>C (p.Met484Leu) c.1765A>C (p.Met589Leu) c.1720A>C (p.Met574Leu) c.1627A>C (p.Met543Leu) | |
9 | g.36219875T>A | CA464494945 | CLTA,GNE | c.1872A>T (p.Gly624=) c.1602A>T (p.Gly534=) c.1779A>T (p.Gly593=) c.1557A>T (p.Gly519=) c.485+15696T>A (n.485+15696T>A) c.1449A>T (p.Gly483=) c.1764A>T (p.Gly588=) c.1719A>T (p.Gly573=) c.1626A>T (p.Gly542=) | |
9 | g.36219875T>C | CA5056428 | CLTA,GNE | c.1872A>G (p.Gly624=) c.1602A>G (p.Gly534=) c.1779A>G (p.Gly593=) c.1557A>G (p.Gly519=) c.485+15696T>C (n.485+15696T>C) c.1449A>G (p.Gly483=) c.1764A>G (p.Gly588=) c.1719A>G (p.Gly573=) c.1626A>G (p.Gly542=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36219875T>G | CA464494946 | CLTA,GNE | c.1872A>C (p.Gly624=) c.1602A>C (p.Gly534=) c.1779A>C (p.Gly593=) c.1557A>C (p.Gly519=) c.485+15696T>G (n.485+15696T>G) c.1449A>C (p.Gly483=) c.1764A>C (p.Gly588=) c.1719A>C (p.Gly573=) c.1626A>C (p.Gly542=) | |
9 | g.36219875T= | CA1846328510 | CLTA,GNE | c.1872A= (p.Gly624=) c.1602A= (p.Gly534=) c.1779A= (p.Gly593=) c.1557A= (p.Gly519=) c.485+15696T= (n.485+15696T=) c.1449A= (p.Gly483=) c.1764A= (p.Gly588=) c.1719A= (p.Gly573=) c.1626A= (p.Gly542=) | |
9 | g.36219876C>A | CA373425549 | CLTA,GNE | c.1871G>T (p.Gly624Val) c.1601G>T (p.Gly534Val) c.1778G>T (p.Gly593Val) c.1556G>T (p.Gly519Val) c.485+15697C>A (n.485+15697C>A) c.1448G>T (p.Gly483Val) c.1763G>T (p.Gly588Val) c.1718G>T (p.Gly573Val) c.1625G>T (p.Gly542Val) | |
9 | g.36219876C>G | CA373425548 | CLTA,GNE | c.1871G>C (p.Gly624Ala) c.1601G>C (p.Gly534Ala) c.1778G>C (p.Gly593Ala) c.1556G>C (p.Gly519Ala) c.485+15697C>G (n.485+15697C>G) c.1448G>C (p.Gly483Ala) c.1763G>C (p.Gly588Ala) c.1718G>C (p.Gly573Ala) c.1625G>C (p.Gly542Ala) | |
9 | g.36219876C>T | CA373425547 | CLTA,GNE | c.1871G>A (p.Gly624Glu) c.1601G>A (p.Gly534Glu) c.1778G>A (p.Gly593Glu) c.1556G>A (p.Gly519Glu) c.485+15697C>T (n.485+15697C>T) c.1448G>A (p.Gly483Glu) c.1763G>A (p.Gly588Glu) c.1718G>A (p.Gly573Glu) c.1625G>A (p.Gly542Glu) | |
9 | g.36219877C>A | CA373425550 | CLTA,GNE | c.1870G>T (p.Gly624Ter) c.1600G>T (p.Gly534Ter) c.1777G>T (p.Gly593Ter) c.1555G>T (p.Gly519Ter) c.485+15698C>A (n.485+15698C>A) c.1447G>T (p.Gly483Ter) c.1762G>T (p.Gly588Ter) c.1717G>T (p.Gly573Ter) c.1624G>T (p.Gly542Ter) | |
9 | g.36219877C>G | CA373425551 | CLTA,GNE | c.1870G>C (p.Gly624Arg) c.1600G>C (p.Gly534Arg) c.1777G>C (p.Gly593Arg) c.1555G>C (p.Gly519Arg) c.485+15698C>G (n.485+15698C>G) c.1447G>C (p.Gly483Arg) c.1762G>C (p.Gly588Arg) c.1717G>C (p.Gly573Arg) c.1624G>C (p.Gly542Arg) | |
9 | g.36219877C>T | CA373425552 | CLTA,GNE | c.1870G>A (p.Gly624Arg) c.1600G>A (p.Gly534Arg) c.1777G>A (p.Gly593Arg) c.1555G>A (p.Gly519Arg) c.485+15698C>T (n.485+15698C>T) c.1447G>A (p.Gly483Arg) c.1762G>A (p.Gly588Arg) c.1717G>A (p.Gly573Arg) c.1624G>A (p.Gly542Arg) | |
9 | g.36219878A>C | CA464494947 | CLTA,GNE | c.1869T>G (p.Ser623=) c.1599T>G (p.Ser533=) c.1776T>G (p.Ser592=) c.1554T>G (p.Ser518=) c.485+15699A>C (n.485+15699A>C) c.1446T>G (p.Ser482=) c.1761T>G (p.Ser587=) c.1716T>G (p.Ser572=) c.1623T>G (p.Ser541=) | |
9 | g.36219878A>G | CA464494948 | CLTA,GNE | c.1869T>C (p.Ser623=) c.1599T>C (p.Ser533=) c.1776T>C (p.Ser592=) c.1554T>C (p.Ser518=) c.485+15699A>G (n.485+15699A>G) c.1446T>C (p.Ser482=) c.1761T>C (p.Ser587=) c.1716T>C (p.Ser572=) c.1623T>C (p.Ser541=) | |
9 | g.36219878A>T | CA464494949 | CLTA,GNE | c.1869T>A (p.Ser623=) c.1599T>A (p.Ser533=) c.1776T>A (p.Ser592=) c.1554T>A (p.Ser518=) c.485+15699A>T (n.485+15699A>T) c.1446T>A (p.Ser482=) c.1761T>A (p.Ser587=) c.1716T>A (p.Ser572=) c.1623T>A (p.Ser541=) | |
9 | g.36219879G>A | CA373425553 | CLTA,GNE | c.1868C>T (p.Ser623Phe) c.1598C>T (p.Ser533Phe) c.1775C>T (p.Ser592Phe) c.1553C>T (p.Ser518Phe) c.485+15700G>A (n.485+15700G>A) c.1445C>T (p.Ser482Phe) c.1760C>T (p.Ser587Phe) c.1715C>T (p.Ser572Phe) c.1622C>T (p.Ser541Phe) | |
9 | g.36219879G>C | CA373425554 | CLTA,GNE | c.1868C>G (p.Ser623Cys) c.1598C>G (p.Ser533Cys) c.1775C>G (p.Ser592Cys) c.1553C>G (p.Ser518Cys) c.485+15700G>C (n.485+15700G>C) c.1445C>G (p.Ser482Cys) c.1760C>G (p.Ser587Cys) c.1715C>G (p.Ser572Cys) c.1622C>G (p.Ser541Cys) | |
9 | g.36219879G>T | CA373425555 | CLTA,GNE | c.1868C>A (p.Ser623Tyr) c.1598C>A (p.Ser533Tyr) c.1775C>A (p.Ser592Tyr) c.1553C>A (p.Ser518Tyr) c.485+15700G>T (n.485+15700G>T) c.1445C>A (p.Ser482Tyr) c.1760C>A (p.Ser587Tyr) c.1715C>A (p.Ser572Tyr) c.1622C>A (p.Ser541Tyr) | gnomAD v4 |
9 | g.36219880A>C | CA373425556 | CLTA,GNE | c.1867T>G (p.Ser623Ala) c.1597T>G (p.Ser533Ala) c.1774T>G (p.Ser592Ala) c.1552T>G (p.Ser518Ala) c.485+15701A>C (n.485+15701A>C) c.1444T>G (p.Ser482Ala) c.1759T>G (p.Ser587Ala) c.1714T>G (p.Ser572Ala) c.1621T>G (p.Ser541Ala) | |
9 | g.36219880A>G | CA373425557 | CLTA,GNE | c.1867T>C (p.Ser623Pro) c.1597T>C (p.Ser533Pro) c.1774T>C (p.Ser592Pro) c.1552T>C (p.Ser518Pro) c.485+15701A>G (n.485+15701A>G) c.1444T>C (p.Ser482Pro) c.1759T>C (p.Ser587Pro) c.1714T>C (p.Ser572Pro) c.1621T>C (p.Ser541Pro) | |
9 | g.36219880A>T | CA373425558 | CLTA,GNE | c.1867T>A (p.Ser623Thr) c.1597T>A (p.Ser533Thr) c.1774T>A (p.Ser592Thr) c.1552T>A (p.Ser518Thr) c.485+15701A>T (n.485+15701A>T) c.1444T>A (p.Ser482Thr) c.1759T>A (p.Ser587Thr) c.1714T>A (p.Ser572Thr) c.1621T>A (p.Ser541Thr) | COSMIC COSMIC COSMIC |
9 | g.36219881G>A | CA464494950 | CLTA,GNE | c.1866C>T (p.Ala622=) c.1596C>T (p.Ala532=) c.1773C>T (p.Ala591=) c.1551C>T (p.Ala517=) c.485+15702G>A (n.485+15702G>A) c.1443C>T (p.Ala481=) c.1758C>T (p.Ala586=) c.1713C>T (p.Ala571=) c.1620C>T (p.Ala540=) | dbSNP gnomAD v4 |
9 | g.36219881G>C | CA464494951 | CLTA,GNE | c.1866C>G (p.Ala622=) c.1596C>G (p.Ala532=) c.1773C>G (p.Ala591=) c.1551C>G (p.Ala517=) c.485+15702G>C (n.485+15702G>C) c.1443C>G (p.Ala481=) c.1758C>G (p.Ala586=) c.1713C>G (p.Ala571=) c.1620C>G (p.Ala540=) | |
9 | g.36219881G= | CA1846328516 | CLTA,GNE | c.1866C= (p.Ala622=) c.1596C= (p.Ala532=) c.1773C= (p.Ala591=) c.1551C= (p.Ala517=) c.485+15702G= (n.485+15702G=) c.1443C= (p.Ala481=) c.1758C= (p.Ala586=) c.1713C= (p.Ala571=) c.1620C= (p.Ala540=) | |
9 | g.36219881G>T | CA464494952 | CLTA,GNE | c.1866C>A (p.Ala622=) c.1596C>A (p.Ala532=) c.1773C>A (p.Ala591=) c.1551C>A (p.Ala517=) c.485+15702G>T (n.485+15702G>T) c.1443C>A (p.Ala481=) c.1758C>A (p.Ala586=) c.1713C>A (p.Ala571=) c.1620C>A (p.Ala540=) | |
9 | g.36219882G>A | CA373425559 | CLTA,GNE | c.1865C>T (p.Ala622Val) c.1595C>T (p.Ala532Val) c.1772C>T (p.Ala591Val) c.1550C>T (p.Ala517Val) c.485+15703G>A (n.485+15703G>A) c.1442C>T (p.Ala481Val) c.1757C>T (p.Ala586Val) c.1712C>T (p.Ala571Val) c.1619C>T (p.Ala540Val) | ClinVar |
9 | g.36219882G>C | CA373425560 | CLTA,GNE | c.1865C>G (p.Ala622Gly) c.1595C>G (p.Ala532Gly) c.1772C>G (p.Ala591Gly) c.1550C>G (p.Ala517Gly) c.485+15703G>C (n.485+15703G>C) c.1442C>G (p.Ala481Gly) c.1757C>G (p.Ala586Gly) c.1712C>G (p.Ala571Gly) c.1619C>G (p.Ala540Gly) | |
9 | g.36219882G>T | CA373425561 | CLTA,GNE | c.1865C>A (p.Ala622Asp) c.1595C>A (p.Ala532Asp) c.1772C>A (p.Ala591Asp) c.1550C>A (p.Ala517Asp) c.485+15703G>T (n.485+15703G>T) c.1442C>A (p.Ala481Asp) c.1757C>A (p.Ala586Asp) c.1712C>A (p.Ala571Asp) c.1619C>A (p.Ala540Asp) | |
9 | g.36219883C>A | CA373425563 | CLTA,GNE | c.1864G>T (p.Ala622Ser) c.1594G>T (p.Ala532Ser) c.1771G>T (p.Ala591Ser) c.1549G>T (p.Ala517Ser) c.485+15704C>A (n.485+15704C>A) c.1441G>T (p.Ala481Ser) c.1756G>T (p.Ala586Ser) c.1711G>T (p.Ala571Ser) c.1618G>T (p.Ala540Ser) | |
9 | g.36219883C= | CA1846328525 | CLTA,GNE | c.1864G= (p.Ala622=) c.1594G= (p.Ala532=) c.1771G= (p.Ala591=) c.1549G= (p.Ala517=) c.485+15704C= (n.485+15704C=) c.1441G= (p.Ala481=) c.1756G= (p.Ala586=) c.1711G= (p.Ala571=) c.1618G= (p.Ala540=) | |
9 | g.36219883C>G | CA373425562 | CLTA,GNE | c.1864G>C (p.Ala622Pro) c.1594G>C (p.Ala532Pro) c.1771G>C (p.Ala591Pro) c.1549G>C (p.Ala517Pro) c.485+15704C>G (n.485+15704C>G) c.1441G>C (p.Ala481Pro) c.1756G>C (p.Ala586Pro) c.1711G>C (p.Ala571Pro) c.1618G>C (p.Ala540Pro) | |
9 | g.36219883C>T | CA5056429 | CLTA,GNE | c.1864G>A (p.Ala622Thr) c.1594G>A (p.Ala532Thr) c.1771G>A (p.Ala591Thr) c.1549G>A (p.Ala517Thr) c.485+15704C>T (n.485+15704C>T) c.1441G>A (p.Ala481Thr) c.1756G>A (p.Ala586Thr) c.1711G>A (p.Ala571Thr) c.1618G>A (p.Ala540Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
9 | g.36219884G>A | CA148383 | CLTA,GNE | c.1863C>T (p.Tyr621=) c.1593C>T (p.Tyr531=) c.1770C>T (p.Tyr590=) c.1548C>T (p.Tyr516=) c.485+15705G>A (n.485+15705G>A) c.1440C>T (p.Tyr480=) c.1755C>T (p.Tyr585=) c.1710C>T (p.Tyr570=) c.1617C>T (p.Tyr539=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36219884G>C | CA373425564 | CLTA,GNE | c.1863C>G (p.Tyr621Ter) c.1593C>G (p.Tyr531Ter) c.1770C>G (p.Tyr590Ter) c.1548C>G (p.Tyr516Ter) c.485+15705G>C (n.485+15705G>C) c.1440C>G (p.Tyr480Ter) c.1755C>G (p.Tyr585Ter) c.1710C>G (p.Tyr570Ter) c.1617C>G (p.Tyr539Ter) | |
9 | g.36219884G= | CA1846328550 | CLTA,GNE | c.1863C= (p.Tyr621=) c.1593C= (p.Tyr531=) c.1770C= (p.Tyr590=) c.1548C= (p.Tyr516=) c.485+15705G= (n.485+15705G=) c.1440C= (p.Tyr480=) c.1755C= (p.Tyr585=) c.1710C= (p.Tyr570=) c.1617C= (p.Tyr539=) | |
9 | g.36219884G>T | CA373425565 | CLTA,GNE | c.1863C>A (p.Tyr621Ter) c.1593C>A (p.Tyr531Ter) c.1770C>A (p.Tyr590Ter) c.1548C>A (p.Tyr516Ter) c.485+15705G>T (n.485+15705G>T) c.1440C>A (p.Tyr480Ter) c.1755C>A (p.Tyr585Ter) c.1710C>A (p.Tyr570Ter) c.1617C>A (p.Tyr539Ter) | ClinVar dbSNP gnomAD v4 |
9 | g.36219885T>A | CA373425566 | CLTA,GNE | c.1862A>T (p.Tyr621Phe) c.1592A>T (p.Tyr531Phe) c.1769A>T (p.Tyr590Phe) c.1547A>T (p.Tyr516Phe) c.485+15706T>A (n.485+15706T>A) c.1439A>T (p.Tyr480Phe) c.1754A>T (p.Tyr585Phe) c.1709A>T (p.Tyr570Phe) c.1616A>T (p.Tyr539Phe) | |
9 | g.36219885T>C | CA373425567 | CLTA,GNE | c.1862A>G (p.Tyr621Cys) c.1592A>G (p.Tyr531Cys) c.1769A>G (p.Tyr590Cys) c.1547A>G (p.Tyr516Cys) c.485+15706T>C (n.485+15706T>C) c.1439A>G (p.Tyr480Cys) c.1754A>G (p.Tyr585Cys) c.1709A>G (p.Tyr570Cys) c.1616A>G (p.Tyr539Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
9 | g.36219885T>G | CA373425568 | CLTA,GNE | c.1862A>C (p.Tyr621Ser) c.1592A>C (p.Tyr531Ser) c.1769A>C (p.Tyr590Ser) c.1547A>C (p.Tyr516Ser) c.485+15706T>G (n.485+15706T>G) c.1439A>C (p.Tyr480Ser) c.1754A>C (p.Tyr585Ser) c.1709A>C (p.Tyr570Ser) c.1616A>C (p.Tyr539Ser) | |
9 | g.36219885T= | CA1846328563 | CLTA,GNE | c.1862A= (p.Tyr621=) c.1592A= (p.Tyr531=) c.1769A= (p.Tyr590=) c.1547A= (p.Tyr516=) c.485+15706T= (n.485+15706T=) c.1439A= (p.Tyr480=) c.1754A= (p.Tyr585=) c.1709A= (p.Tyr570=) c.1616A= (p.Tyr539=) | |
9 | g.36219886A>C | CA373425569 | CLTA,GNE | c.1861T>G (p.Tyr621Asp) c.1591T>G (p.Tyr531Asp) c.1768T>G (p.Tyr590Asp) c.1546T>G (p.Tyr516Asp) c.485+15707A>C (n.485+15707A>C) c.1438T>G (p.Tyr480Asp) c.1753T>G (p.Tyr585Asp) c.1708T>G (p.Tyr570Asp) c.1615T>G (p.Tyr539Asp) | COSMIC COSMIC COSMIC |
9 | g.36219886A>G | CA373425570 | CLTA,GNE | c.1861T>C (p.Tyr621His) c.1591T>C (p.Tyr531His) c.1768T>C (p.Tyr590His) c.1546T>C (p.Tyr516His) c.485+15707A>G (n.485+15707A>G) c.1438T>C (p.Tyr480His) c.1753T>C (p.Tyr585His) c.1708T>C (p.Tyr570His) c.1615T>C (p.Tyr539His) | dbSNP |
9 | g.36219886A>T | CA373425571 | CLTA,GNE | c.1861T>A (p.Tyr621Asn) c.1591T>A (p.Tyr531Asn) c.1768T>A (p.Tyr590Asn) c.1546T>A (p.Tyr516Asn) c.485+15707A>T (n.485+15707A>T) c.1438T>A (p.Tyr480Asn) c.1753T>A (p.Tyr585Asn) c.1708T>A (p.Tyr570Asn) c.1615T>A (p.Tyr539Asn) | ClinVar |
9 | g.36219887T>A | CA464494954 | CLTA,GNE | c.1860A>T (p.Ala620=) c.1590A>T (p.Ala530=) c.1767A>T (p.Ala589=) c.1545A>T (p.Ala515=) c.485+15708T>A (n.485+15708T>A) c.1437A>T (p.Ala479=) c.1752A>T (p.Ala584=) c.1707A>T (p.Ala569=) c.1614A>T (p.Ala538=) | ClinVar |
9 | g.36219887T>C | CA5056430 | CLTA,GNE | c.1860A>G (p.Ala620=) c.1590A>G (p.Ala530=) c.1767A>G (p.Ala589=) c.1545A>G (p.Ala515=) c.485+15708T>C (n.485+15708T>C) c.1437A>G (p.Ala479=) c.1752A>G (p.Ala584=) c.1707A>G (p.Ala569=) c.1614A>G (p.Ala538=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36219887T>G | CA464494953 | CLTA,GNE | c.1860A>C (p.Ala620=) c.1590A>C (p.Ala530=) c.1767A>C (p.Ala589=) c.1545A>C (p.Ala515=) c.485+15708T>G (n.485+15708T>G) c.1437A>C (p.Ala479=) c.1752A>C (p.Ala584=) c.1707A>C (p.Ala569=) c.1614A>C (p.Ala538=) | |
9 | g.36219887T= | CA1846328571 | CLTA,GNE | c.1860A= (p.Ala620=) c.1590A= (p.Ala530=) c.1767A= (p.Ala589=) c.1545A= (p.Ala515=) c.485+15708T= (n.485+15708T=) c.1437A= (p.Ala479=) c.1752A= (p.Ala584=) c.1707A= (p.Ala569=) c.1614A= (p.Ala538=) | |
9 | g.36219888G>A | CA373425572 | CLTA,GNE | c.1859C>T (p.Ala620Val) c.1589C>T (p.Ala530Val) c.1766C>T (p.Ala589Val) c.1544C>T (p.Ala515Val) c.485+15709G>A (n.485+15709G>A) c.1436C>T (p.Ala479Val) c.1751C>T (p.Ala584Val) c.1706C>T (p.Ala569Val) c.1613C>T (p.Ala538Val) | |
9 | g.36219888G>C | CA373425573 | CLTA,GNE | c.1859C>G (p.Ala620Gly) c.1589C>G (p.Ala530Gly) c.1766C>G (p.Ala589Gly) c.1544C>G (p.Ala515Gly) c.485+15709G>C (n.485+15709G>C) c.1436C>G (p.Ala479Gly) c.1751C>G (p.Ala584Gly) c.1706C>G (p.Ala569Gly) c.1613C>G (p.Ala538Gly) | gnomAD v4 |
9 | g.36219888G>T | CA373425574 | CLTA,GNE | c.1859C>A (p.Ala620Glu) c.1589C>A (p.Ala530Glu) c.1766C>A (p.Ala589Glu) c.1544C>A (p.Ala515Glu) c.485+15709G>T (n.485+15709G>T) c.1436C>A (p.Ala479Glu) c.1751C>A (p.Ala584Glu) c.1706C>A (p.Ala569Glu) c.1613C>A (p.Ala538Glu) | |
9 | g.36219889C>A | CA373425577 | CLTA,GNE | c.1858G>T (p.Ala620Ser) c.1588G>T (p.Ala530Ser) c.1765G>T (p.Ala589Ser) c.1543G>T (p.Ala515Ser) c.485+15710C>A (n.485+15710C>A) c.1435G>T (p.Ala479Ser) c.1750G>T (p.Ala584Ser) c.1705G>T (p.Ala569Ser) c.1612G>T (p.Ala538Ser) | |
9 | g.36219889C>G | CA373425575 | CLTA,GNE | c.1858G>C (p.Ala620Pro) c.1588G>C (p.Ala530Pro) c.1765G>C (p.Ala589Pro) c.1543G>C (p.Ala515Pro) c.485+15710C>G (n.485+15710C>G) c.1435G>C (p.Ala479Pro) c.1750G>C (p.Ala584Pro) c.1705G>C (p.Ala569Pro) c.1612G>C (p.Ala538Pro) | |
9 | g.36219889C>T | CA373425576 | CLTA,GNE | c.1858G>A (p.Ala620Thr) c.1588G>A (p.Ala530Thr) c.1765G>A (p.Ala589Thr) c.1543G>A (p.Ala515Thr) c.485+15710C>T (n.485+15710C>T) c.1435G>A (p.Ala479Thr) c.1750G>A (p.Ala584Thr) c.1705G>A (p.Ala569Thr) c.1612G>A (p.Ala538Thr) | |
9 | g.36219890T>A | CA373425578 | CLTA,GNE | c.1857A>T (p.Glu619Asp) c.1587A>T (p.Glu529Asp) c.1764A>T (p.Glu588Asp) c.1542A>T (p.Glu514Asp) c.485+15711T>A (n.485+15711T>A) c.1434A>T (p.Glu478Asp) c.1749A>T (p.Glu583Asp) c.1704A>T (p.Glu568Asp) c.1611A>T (p.Glu537Asp) | |
9 | g.36219890T>C | CA464494955 | CLTA,GNE | c.1857A>G (p.Glu619=) c.1587A>G (p.Glu529=) c.1764A>G (p.Glu588=) c.1542A>G (p.Glu514=) c.485+15711T>C (n.485+15711T>C) c.1434A>G (p.Glu478=) c.1749A>G (p.Glu583=) c.1704A>G (p.Glu568=) c.1611A>G (p.Glu537=) | |
9 | g.36219890T>G | CA373425579 | CLTA,GNE | c.1857A>C (p.Glu619Asp) c.1587A>C (p.Glu529Asp) c.1764A>C (p.Glu588Asp) c.1542A>C (p.Glu514Asp) c.485+15711T>G (n.485+15711T>G) c.1434A>C (p.Glu478Asp) c.1749A>C (p.Glu583Asp) c.1704A>C (p.Glu568Asp) c.1611A>C (p.Glu537Asp) | |
9 | g.36219891T>A | CA373425580 | CLTA,GNE | c.1856A>T (p.Glu619Val) c.1586A>T (p.Glu529Val) c.1763A>T (p.Glu588Val) c.1541A>T (p.Glu514Val) c.485+15712T>A (n.485+15712T>A) c.1433A>T (p.Glu478Val) c.1748A>T (p.Glu583Val) c.1703A>T (p.Glu568Val) c.1610A>T (p.Glu537Val) | |
9 | g.36219891T>C | CA373425581 | CLTA,GNE | c.1856A>G (p.Glu619Gly) c.1586A>G (p.Glu529Gly) c.1763A>G (p.Glu588Gly) c.1541A>G (p.Glu514Gly) c.485+15712T>C (n.485+15712T>C) c.1433A>G (p.Glu478Gly) c.1748A>G (p.Glu583Gly) c.1703A>G (p.Glu568Gly) c.1610A>G (p.Glu537Gly) | |
9 | g.36219891T>G | CA373425582 | CLTA,GNE | c.1856A>C (p.Glu619Ala) c.1586A>C (p.Glu529Ala) c.1763A>C (p.Glu588Ala) c.1541A>C (p.Glu514Ala) c.485+15712T>G (n.485+15712T>G) c.1433A>C (p.Glu478Ala) c.1748A>C (p.Glu583Ala) c.1703A>C (p.Glu568Ala) c.1610A>C (p.Glu537Ala) | |
9 | g.36219892C>A | CA373425583 | CLTA,GNE | c.1855G>T (p.Glu619Ter) c.1585G>T (p.Glu529Ter) c.1762G>T (p.Glu588Ter) c.1540G>T (p.Glu514Ter) c.485+15713C>A (n.485+15713C>A) c.1432G>T (p.Glu478Ter) c.1747G>T (p.Glu583Ter) c.1702G>T (p.Glu568Ter) c.1609G>T (p.Glu537Ter) | |
9 | g.36219892C>G | CA373425584 | CLTA,GNE | c.1855G>C (p.Glu619Gln) c.1585G>C (p.Glu529Gln) c.1762G>C (p.Glu588Gln) c.1540G>C (p.Glu514Gln) c.485+15713C>G (n.485+15713C>G) c.1432G>C (p.Glu478Gln) c.1747G>C (p.Glu583Gln) c.1702G>C (p.Glu568Gln) c.1609G>C (p.Glu537Gln) | |
9 | g.36219892C>T | CA373425585 | CLTA,GNE | c.1855G>A (p.Glu619Lys) c.1585G>A (p.Glu529Lys) c.1762G>A (p.Glu588Lys) c.1540G>A (p.Glu514Lys) c.485+15713C>T (n.485+15713C>T) c.1432G>A (p.Glu478Lys) c.1747G>A (p.Glu583Lys) c.1702G>A (p.Glu568Lys) c.1609G>A (p.Glu537Lys) | ClinVar dbSNP |
9 | g.36219893A>C | CA373425586 | CLTA,GNE | c.1854T>G (p.Ile618Met) c.1584T>G (p.Ile528Met) c.1761T>G (p.Ile587Met) c.1539T>G (p.Ile513Met) c.485+15714A>C (n.485+15714A>C) c.1431T>G (p.Ile477Met) c.1746T>G (p.Ile582Met) c.1701T>G (p.Ile567Met) c.1608T>G (p.Ile536Met) | |
9 | g.36219893A>G | CA464494957 | CLTA,GNE | c.1854T>C (p.Ile618=) c.1584T>C (p.Ile528=) c.1761T>C (p.Ile587=) c.1539T>C (p.Ile513=) c.485+15714A>G (n.485+15714A>G) c.1431T>C (p.Ile477=) c.1746T>C (p.Ile582=) c.1701T>C (p.Ile567=) c.1608T>C (p.Ile536=) | |
9 | g.36219893A>T | CA464494956 | CLTA,GNE | c.1854T>A (p.Ile618=) c.1584T>A (p.Ile528=) c.1761T>A (p.Ile587=) c.1539T>A (p.Ile513=) c.485+15714A>T (n.485+15714A>T) c.1431T>A (p.Ile477=) c.1746T>A (p.Ile582=) c.1701T>A (p.Ile567=) c.1608T>A (p.Ile536=) | |
9 | g.36219894A= | CA1846328577 | CLTA,GNE | c.1853T= (p.Ile618=) c.1583T= (p.Ile528=) c.1760T= (p.Ile587=) c.1538T= (p.Ile513=) c.485+15715A= (n.485+15715A=) c.1430T= (p.Ile477=) c.1745T= (p.Ile582=) c.1700T= (p.Ile567=) c.1607T= (p.Ile536=) | |
9 | g.36219894A>C | CA373425587 | CLTA,GNE | c.1853T>G (p.Ile618Ser) c.1583T>G (p.Ile528Ser) c.1760T>G (p.Ile587Ser) c.1538T>G (p.Ile513Ser) c.485+15715A>C (n.485+15715A>C) c.1430T>G (p.Ile477Ser) c.1745T>G (p.Ile582Ser) c.1700T>G (p.Ile567Ser) c.1607T>G (p.Ile536Ser) | |
9 | g.36219894A>G | CA274075 | CLTA,GNE | c.1853T>C (p.Ile618Thr) c.1583T>C (p.Ile528Thr) c.1760T>C (p.Ile587Thr) c.1538T>C (p.Ile513Thr) c.485+15715A>G (n.485+15715A>G) c.1430T>C (p.Ile477Thr) c.1745T>C (p.Ile582Thr) c.1700T>C (p.Ile567Thr) c.1607T>C (p.Ile536Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36219894A>T | CA373425588 | CLTA,GNE | c.1853T>A (p.Ile618Asn) c.1583T>A (p.Ile528Asn) c.1760T>A (p.Ile587Asn) c.1538T>A (p.Ile513Asn) c.485+15715A>T (n.485+15715A>T) c.1430T>A (p.Ile477Asn) c.1745T>A (p.Ile582Asn) c.1700T>A (p.Ile567Asn) c.1607T>A (p.Ile536Asn) | |
9 | g.36219895T>A | CA373425590 | CLTA,GNE | c.1852A>T (p.Ile618Phe) c.1582A>T (p.Ile528Phe) c.1759A>T (p.Ile587Phe) c.1537A>T (p.Ile513Phe) c.485+15716T>A (n.485+15716T>A) c.1429A>T (p.Ile477Phe) c.1744A>T (p.Ile582Phe) c.1699A>T (p.Ile567Phe) c.1606A>T (p.Ile536Phe) | |
9 | g.36219895T>C | CA373425591 | CLTA,GNE | c.1852A>G (p.Ile618Val) c.1582A>G (p.Ile528Val) c.1759A>G (p.Ile587Val) c.1537A>G (p.Ile513Val) c.485+15716T>C (n.485+15716T>C) c.1429A>G (p.Ile477Val) c.1744A>G (p.Ile582Val) c.1699A>G (p.Ile567Val) c.1606A>G (p.Ile536Val) | ClinVar |
9 | g.36219895T>G | CA373425589 | CLTA,GNE | c.1852A>C (p.Ile618Leu) c.1582A>C (p.Ile528Leu) c.1759A>C (p.Ile587Leu) c.1537A>C (p.Ile513Leu) c.485+15716T>G (n.485+15716T>G) c.1429A>C (p.Ile477Leu) c.1744A>C (p.Ile582Leu) c.1699A>C (p.Ile567Leu) c.1606A>C (p.Ile536Leu) | |
9 | g.36219896G>A | CA464494958 | CLTA,GNE | c.1851C>T (p.Cys617=) c.1581C>T (p.Cys527=) c.1758C>T (p.Cys586=) c.1536C>T (p.Cys512=) c.485+15717G>A (n.485+15717G>A) c.1428C>T (p.Cys476=) c.1743C>T (p.Cys581=) c.1698C>T (p.Cys566=) c.1605C>T (p.Cys535=) | |
9 | g.36219896G>C | CA373425593 | CLTA,GNE | c.1851C>G (p.Cys617Trp) c.1581C>G (p.Cys527Trp) c.1758C>G (p.Cys586Trp) c.1536C>G (p.Cys512Trp) c.485+15717G>C (n.485+15717G>C) c.1428C>G (p.Cys476Trp) c.1743C>G (p.Cys581Trp) c.1698C>G (p.Cys566Trp) c.1605C>G (p.Cys535Trp) | |
9 | g.36219896G>T | CA373425592 | CLTA,GNE | c.1851C>A (p.Cys617Ter) c.1581C>A (p.Cys527Ter) c.1758C>A (p.Cys586Ter) c.1536C>A (p.Cys512Ter) c.485+15717G>T (n.485+15717G>T) c.1428C>A (p.Cys476Ter) c.1743C>A (p.Cys581Ter) c.1698C>A (p.Cys566Ter) c.1605C>A (p.Cys535Ter) | |
9 | g.36219897C>A | CA373425594 | CLTA,GNE | c.1850G>T (p.Cys617Phe) c.1580G>T (p.Cys527Phe) c.1757G>T (p.Cys586Phe) c.1535G>T (p.Cys512Phe) c.485+15718C>A (n.485+15718C>A) c.1427G>T (p.Cys476Phe) c.1742G>T (p.Cys581Phe) c.1697G>T (p.Cys566Phe) c.1604G>T (p.Cys535Phe) | |
9 | g.36219897C>G | CA373425595 | CLTA,GNE | c.1850G>C (p.Cys617Ser) c.1580G>C (p.Cys527Ser) c.1757G>C (p.Cys586Ser) c.1535G>C (p.Cys512Ser) c.485+15718C>G (n.485+15718C>G) c.1427G>C (p.Cys476Ser) c.1742G>C (p.Cys581Ser) c.1697G>C (p.Cys566Ser) c.1604G>C (p.Cys535Ser) | |
9 | g.36219897C>T | CA373425596 | CLTA,GNE | c.1850G>A (p.Cys617Tyr) c.1580G>A (p.Cys527Tyr) c.1757G>A (p.Cys586Tyr) c.1535G>A (p.Cys512Tyr) c.485+15718C>T (n.485+15718C>T) c.1427G>A (p.Cys476Tyr) c.1742G>A (p.Cys581Tyr) c.1697G>A (p.Cys566Tyr) c.1604G>A (p.Cys535Tyr) | gnomAD v4 |
9 | g.36219898A>C | CA373425597 | CLTA,GNE | c.1849T>G (p.Cys617Gly) c.1579T>G (p.Cys527Gly) c.1756T>G (p.Cys586Gly) c.1534T>G (p.Cys512Gly) c.485+15719A>C (n.485+15719A>C) c.1426T>G (p.Cys476Gly) c.1741T>G (p.Cys581Gly) c.1696T>G (p.Cys566Gly) c.1603T>G (p.Cys535Gly) | |
9 | g.36219898A>G | CA373425598 | CLTA,GNE | c.1849T>C (p.Cys617Arg) c.1579T>C (p.Cys527Arg) c.1756T>C (p.Cys586Arg) c.1534T>C (p.Cys512Arg) c.485+15719A>G (n.485+15719A>G) c.1426T>C (p.Cys476Arg) c.1741T>C (p.Cys581Arg) c.1696T>C (p.Cys566Arg) c.1603T>C (p.Cys535Arg) | |
9 | g.36219898A>T | CA373425599 | CLTA,GNE | c.1849T>A (p.Cys617Ser) c.1579T>A (p.Cys527Ser) c.1756T>A (p.Cys586Ser) c.1534T>A (p.Cys512Ser) c.485+15719A>T (n.485+15719A>T) c.1426T>A (p.Cys476Ser) c.1741T>A (p.Cys581Ser) c.1696T>A (p.Cys566Ser) c.1603T>A (p.Cys535Ser) | |
9 | g.36219899C>A | CA464494959 | CLTA,GNE | c.1848G>T (p.Gly616=) c.1578G>T (p.Gly526=) c.1755G>T (p.Gly585=) c.1533G>T (p.Gly511=) c.485+15720C>A (n.485+15720C>A) c.1425G>T (p.Gly475=) c.1740G>T (p.Gly580=) c.1695G>T (p.Gly565=) c.1602G>T (p.Gly534=) | |
9 | g.36219899C= | CA1846328584 | CLTA,GNE | c.1848G= (p.Gly616=) c.1578G= (p.Gly526=) c.1755G= (p.Gly585=) c.1533G= (p.Gly511=) c.485+15720C= (n.485+15720C=) c.1425G= (p.Gly475=) c.1740G= (p.Gly580=) c.1695G= (p.Gly565=) c.1602G= (p.Gly534=) | |
9 | g.36219899C>G | CA464494960 | CLTA,GNE | c.1848G>C (p.Gly616=) c.1578G>C (p.Gly526=) c.1755G>C (p.Gly585=) c.1533G>C (p.Gly511=) c.485+15720C>G (n.485+15720C>G) c.1425G>C (p.Gly475=) c.1740G>C (p.Gly580=) c.1695G>C (p.Gly565=) c.1602G>C (p.Gly534=) | ClinVar dbSNP gnomAD v4 |
9 | g.36219899C>T | CA464494961 | CLTA,GNE | c.1848G>A (p.Gly616=) c.1578G>A (p.Gly526=) c.1755G>A (p.Gly585=) c.1533G>A (p.Gly511=) c.485+15720C>T (n.485+15720C>T) c.1425G>A (p.Gly475=) c.1740G>A (p.Gly580=) c.1695G>A (p.Gly565=) c.1602G>A (p.Gly534=) | dbSNP |
9 | g.36219901del | CA2695206253 | CLTA,GNE | c.1848del (p.Cys617AlafsTer?) c.1578del (p.Cys527AlafsTer?) c.1755del (p.Cys586AlafsTer?) c.1533del (p.Cys512AlafsTer?) c.485+15722del (n.485+15722del) c.1425del (p.Cys476AlafsTer?) c.1740del (p.Cys581AlafsTer?) c.1695del (p.Cys566AlafsTer?) c.1602del (p.Cys535AlafsTer?) | |
9 | g.36219900C>A | CA373425602 | CLTA,GNE | c.1847G>T (p.Gly616Val) c.1577G>T (p.Gly526Val) c.1754G>T (p.Gly585Val) c.1532G>T (p.Gly511Val) c.485+15721C>A (n.485+15721C>A) c.1424G>T (p.Gly475Val) c.1739G>T (p.Gly580Val) c.1694G>T (p.Gly565Val) c.1601G>T (p.Gly534Val) | |
9 | g.36219900C>G | CA373425600 | CLTA,GNE | c.1847G>C (p.Gly616Ala) c.1577G>C (p.Gly526Ala) c.1754G>C (p.Gly585Ala) c.1532G>C (p.Gly511Ala) c.485+15721C>G (n.485+15721C>G) c.1424G>C (p.Gly475Ala) c.1739G>C (p.Gly580Ala) c.1694G>C (p.Gly565Ala) c.1601G>C (p.Gly534Ala) | |
9 | g.36219900C>T | CA373425601 | CLTA,GNE | c.1847G>A (p.Gly616Glu) c.1577G>A (p.Gly526Glu) c.1754G>A (p.Gly585Glu) c.1532G>A (p.Gly511Glu) c.485+15721C>T (n.485+15721C>T) c.1424G>A (p.Gly475Glu) c.1739G>A (p.Gly580Glu) c.1694G>A (p.Gly565Glu) c.1601G>A (p.Gly534Glu) | |
9 | g.36219901C>A | CA373425603 | CLTA,GNE | c.1846G>T (p.Gly616Trp) c.1576G>T (p.Gly526Trp) c.1753G>T (p.Gly585Trp) c.1531G>T (p.Gly511Trp) c.485+15722C>A (n.485+15722C>A) c.1423G>T (p.Gly475Trp) c.1738G>T (p.Gly580Trp) c.1693G>T (p.Gly565Trp) c.1600G>T (p.Gly534Trp) | |
9 | g.36219901C>G | CA373425604 | CLTA,GNE | c.1846G>C (p.Gly616Arg) c.1576G>C (p.Gly526Arg) c.1753G>C (p.Gly585Arg) c.1531G>C (p.Gly511Arg) c.485+15722C>G (n.485+15722C>G) c.1423G>C (p.Gly475Arg) c.1738G>C (p.Gly580Arg) c.1693G>C (p.Gly565Arg) c.1600G>C (p.Gly534Arg) | |
9 | g.36219901C>T | CA373425605 | CLTA,GNE | c.1846G>A (p.Gly616Arg) c.1576G>A (p.Gly526Arg) c.1753G>A (p.Gly585Arg) c.1531G>A (p.Gly511Arg) c.485+15722C>T (n.485+15722C>T) c.1423G>A (p.Gly475Arg) c.1738G>A (p.Gly580Arg) c.1693G>A (p.Gly565Arg) c.1600G>A (p.Gly534Arg) | |
9 | g.36219902A= | CA1846328585 | CLTA,GNE | c.1845T= (p.His615=) c.1575T= (p.His525=) c.1752T= (p.His584=) c.1530T= (p.His510=) c.485+15723A= (n.485+15723A=) c.1422T= (p.His474=) c.1737T= (p.His579=) c.1692T= (p.His564=) c.1599T= (p.His533=) | |
9 | g.36219902A>C | CA373425606 | CLTA,GNE | c.1845T>G (p.His615Gln) c.1575T>G (p.His525Gln) c.1752T>G (p.His584Gln) c.1530T>G (p.His510Gln) c.485+15723A>C (n.485+15723A>C) c.1422T>G (p.His474Gln) c.1737T>G (p.His579Gln) c.1692T>G (p.His564Gln) c.1599T>G (p.His533Gln) | |
9 | g.36219902A>G | CA464494962 | CLTA,GNE | c.1845T>C (p.His615=) c.1575T>C (p.His525=) c.1752T>C (p.His584=) c.1530T>C (p.His510=) c.485+15723A>G (n.485+15723A>G) c.1422T>C (p.His474=) c.1737T>C (p.His579=) c.1692T>C (p.His564=) c.1599T>C (p.His533=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.36219902A>T | CA373425607 | CLTA,GNE | c.1845T>A (p.His615Gln) c.1575T>A (p.His525Gln) c.1752T>A (p.His584Gln) c.1530T>A (p.His510Gln) c.485+15723A>T (n.485+15723A>T) c.1422T>A (p.His474Gln) c.1737T>A (p.His579Gln) c.1692T>A (p.His564Gln) c.1599T>A (p.His533Gln) | |
9 | g.36219903T>A | CA373425608 | CLTA,GNE | c.1844A>T (p.His615Leu) c.1574A>T (p.His525Leu) c.1751A>T (p.His584Leu) c.1529A>T (p.His510Leu) c.485+15724T>A (n.485+15724T>A) c.1421A>T (p.His474Leu) c.1736A>T (p.His579Leu) c.1691A>T (p.His564Leu) c.1598A>T (p.His533Leu) | |
9 | g.36219903T>C | CA373425610 | CLTA,GNE | c.1844A>G (p.His615Arg) c.1574A>G (p.His525Arg) c.1751A>G (p.His584Arg) c.1529A>G (p.His510Arg) c.485+15724T>C (n.485+15724T>C) c.1421A>G (p.His474Arg) c.1736A>G (p.His579Arg) c.1691A>G (p.His564Arg) c.1598A>G (p.His533Arg) | |
9 | g.36219903T>G | CA373425609 | CLTA,GNE | c.1844A>C (p.His615Pro) c.1574A>C (p.His525Pro) c.1751A>C (p.His584Pro) c.1529A>C (p.His510Pro) c.485+15724T>G (n.485+15724T>G) c.1421A>C (p.His474Pro) c.1736A>C (p.His579Pro) c.1691A>C (p.His564Pro) c.1598A>C (p.His533Pro) | |
9 | g.36219904G>A | CA373425611 | CLTA,GNE | c.1843C>T (p.His615Tyr) c.1573C>T (p.His525Tyr) c.1750C>T (p.His584Tyr) c.1528C>T (p.His510Tyr) c.485+15725G>A (n.485+15725G>A) c.1420C>T (p.His474Tyr) c.1735C>T (p.His579Tyr) c.1690C>T (p.His564Tyr) c.1597C>T (p.His533Tyr) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36219904G>C | CA373425612 | CLTA,GNE | c.1843C>G (p.His615Asp) c.1573C>G (p.His525Asp) c.1750C>G (p.His584Asp) c.1528C>G (p.His510Asp) c.485+15725G>C (n.485+15725G>C) c.1420C>G (p.His474Asp) c.1735C>G (p.His579Asp) c.1690C>G (p.His564Asp) c.1597C>G (p.His533Asp) | |
9 | g.36219904G= | CA1846328589 | CLTA,GNE | c.1843C= (p.His615=) c.1573C= (p.His525=) c.1750C= (p.His584=) c.1528C= (p.His510=) c.485+15725G= (n.485+15725G=) c.1420C= (p.His474=) c.1735C= (p.His579=) c.1690C= (p.His564=) c.1597C= (p.His533=) | |
9 | g.36219904G>T | CA373425613 | CLTA,GNE | c.1843C>A (p.His615Asn) c.1573C>A (p.His525Asn) c.1750C>A (p.His584Asn) c.1528C>A (p.His510Asn) c.485+15725G>T (n.485+15725G>T) c.1420C>A (p.His474Asn) c.1735C>A (p.His579Asn) c.1690C>A (p.His564Asn) c.1597C>A (p.His533Asn) | gnomAD v4 |
9 | g.36219905G>A | CA464494963 | CLTA,GNE | c.1842C>T (p.Ser614=) c.1572C>T (p.Ser524=) c.1749C>T (p.Ser583=) c.1527C>T (p.Ser509=) c.485+15726G>A (n.485+15726G>A) c.1419C>T (p.Ser473=) c.1734C>T (p.Ser578=) c.1689C>T (p.Ser563=) c.1596C>T (p.Ser532=) | ClinVar |
9 | g.36219905G>C | CA373425614 | CLTA,GNE | c.1842C>G (p.Ser614Arg) c.1572C>G (p.Ser524Arg) c.1749C>G (p.Ser583Arg) c.1527C>G (p.Ser509Arg) c.485+15726G>C (n.485+15726G>C) c.1419C>G (p.Ser473Arg) c.1734C>G (p.Ser578Arg) c.1689C>G (p.Ser563Arg) c.1596C>G (p.Ser532Arg) | |
9 | g.36219905G>T | CA373425615 | CLTA,GNE | c.1842C>A (p.Ser614Arg) c.1572C>A (p.Ser524Arg) c.1749C>A (p.Ser583Arg) c.1527C>A (p.Ser509Arg) c.485+15726G>T (n.485+15726G>T) c.1419C>A (p.Ser473Arg) c.1734C>A (p.Ser578Arg) c.1689C>A (p.Ser563Arg) c.1596C>A (p.Ser532Arg) | |
9 | g.36219906C>A | CA373425616 | CLTA,GNE | c.1841G>T (p.Ser614Ile) c.1571G>T (p.Ser524Ile) c.1748G>T (p.Ser583Ile) c.1526G>T (p.Ser509Ile) c.485+15727C>A (n.485+15727C>A) c.1418G>T (p.Ser473Ile) c.1733G>T (p.Ser578Ile) c.1688G>T (p.Ser563Ile) c.1595G>T (p.Ser532Ile) | |
9 | g.36219906C= | CA1846328591 | CLTA,GNE | c.1841G= (p.Ser614=) c.1571G= (p.Ser524=) c.1748G= (p.Ser583=) c.1526G= (p.Ser509=) c.485+15727C= (n.485+15727C=) c.1418G= (p.Ser473=) c.1733G= (p.Ser578=) c.1688G= (p.Ser563=) c.1595G= (p.Ser532=) | |
9 | g.36219906C>G | CA373425617 | CLTA,GNE | c.1841G>C (p.Ser614Thr) c.1571G>C (p.Ser524Thr) c.1748G>C (p.Ser583Thr) c.1526G>C (p.Ser509Thr) c.485+15727C>G (n.485+15727C>G) c.1418G>C (p.Ser473Thr) c.1733G>C (p.Ser578Thr) c.1688G>C (p.Ser563Thr) c.1595G>C (p.Ser532Thr) | gnomAD v4 |
9 | g.36219906C>T | CA373425618 | CLTA,GNE | c.1841G>A (p.Ser614Asn) c.1571G>A (p.Ser524Asn) c.1748G>A (p.Ser583Asn) c.1526G>A (p.Ser509Asn) c.485+15727C>T (n.485+15727C>T) c.1418G>A (p.Ser473Asn) c.1733G>A (p.Ser578Asn) c.1688G>A (p.Ser563Asn) c.1595G>A (p.Ser532Asn) | dbSNP gnomAD v4 |
9 | g.36219906dup | CA2695206254 | CLTA,GNE | c.1841dup (p.Ser614ArgfsTer6) c.1571dup (p.Ser524ArgfsTer6) c.1748dup (p.Ser583ArgfsTer6) c.1526dup (p.Ser509ArgfsTer6) c.485+15727dup (n.485+15727dup) c.1418dup (p.Ser473ArgfsTer6) c.1733dup (p.Ser578ArgfsTer6) c.1688dup (p.Ser563ArgfsTer6) c.1595dup (p.Ser532ArgfsTer6) | |
9 | g.36219907T>A | CA373425619 | CLTA,GNE | c.1840A>T (p.Ser614Cys) c.1570A>T (p.Ser524Cys) c.1747A>T (p.Ser583Cys) c.1525A>T (p.Ser509Cys) c.485+15728T>A (n.485+15728T>A) c.1417A>T (p.Ser473Cys) c.1732A>T (p.Ser578Cys) c.1687A>T (p.Ser563Cys) c.1594A>T (p.Ser532Cys) | gnomAD v4 |
9 | g.36219907T>C | CA373425620 | CLTA,GNE | c.1840A>G (p.Ser614Gly) c.1570A>G (p.Ser524Gly) c.1747A>G (p.Ser583Gly) c.1525A>G (p.Ser509Gly) c.485+15728T>C (n.485+15728T>C) c.1417A>G (p.Ser473Gly) c.1732A>G (p.Ser578Gly) c.1687A>G (p.Ser563Gly) c.1594A>G (p.Ser532Gly) | |
9 | g.36219907T>G | CA373425621 | CLTA,GNE | c.1840A>C (p.Ser614Arg) c.1570A>C (p.Ser524Arg) c.1747A>C (p.Ser583Arg) c.1525A>C (p.Ser509Arg) c.485+15728T>G (n.485+15728T>G) c.1417A>C (p.Ser473Arg) c.1732A>C (p.Ser578Arg) c.1687A>C (p.Ser563Arg) c.1594A>C (p.Ser532Arg) | |
9 | g.36219908T>A | CA464494966 | CLTA,GNE | c.1839A>T (p.Gly613=) c.1569A>T (p.Gly523=) c.1746A>T (p.Gly582=) c.1524A>T (p.Gly508=) c.485+15729T>A (n.485+15729T>A) c.1416A>T (p.Gly472=) c.1731A>T (p.Gly577=) c.1686A>T (p.Gly562=) c.1593A>T (p.Gly531=) | |
9 | g.36219908T>C | CA464494965 | CLTA,GNE | c.1839A>G (p.Gly613=) c.1569A>G (p.Gly523=) c.1746A>G (p.Gly582=) c.1524A>G (p.Gly508=) c.485+15729T>C (n.485+15729T>C) c.1416A>G (p.Gly472=) c.1731A>G (p.Gly577=) c.1686A>G (p.Gly562=) c.1593A>G (p.Gly531=) | COSMIC COSMIC COSMIC |
9 | g.36219908T>G | CA464494964 | CLTA,GNE | c.1839A>C (p.Gly613=) c.1569A>C (p.Gly523=) c.1746A>C (p.Gly582=) c.1524A>C (p.Gly508=) c.485+15729T>G (n.485+15729T>G) c.1416A>C (p.Gly472=) c.1731A>C (p.Gly577=) c.1686A>C (p.Gly562=) c.1593A>C (p.Gly531=) | |
9 | g.36219909C>A | CA373425624 | CLTA,GNE | c.1838G>T (p.Gly613Val) c.1568G>T (p.Gly523Val) c.1745G>T (p.Gly582Val) c.1523G>T (p.Gly508Val) c.485+15730C>A (n.485+15730C>A) c.1415G>T (p.Gly472Val) c.1730G>T (p.Gly577Val) c.1685G>T (p.Gly562Val) c.1592G>T (p.Gly531Val) | |
9 | g.36219909C>G | CA373425623 | CLTA,GNE | c.1838G>C (p.Gly613Ala) c.1568G>C (p.Gly523Ala) c.1745G>C (p.Gly582Ala) c.1523G>C (p.Gly508Ala) c.485+15730C>G (n.485+15730C>G) c.1415G>C (p.Gly472Ala) c.1730G>C (p.Gly577Ala) c.1685G>C (p.Gly562Ala) c.1592G>C (p.Gly531Ala) | |
9 | g.36219909C>T | CA373425622 | CLTA,GNE | c.1838G>A (p.Gly613Glu) c.1568G>A (p.Gly523Glu) c.1745G>A (p.Gly582Glu) c.1523G>A (p.Gly508Glu) c.485+15730C>T (n.485+15730C>T) c.1415G>A (p.Gly472Glu) c.1730G>A (p.Gly577Glu) c.1685G>A (p.Gly562Glu) c.1592G>A (p.Gly531Glu) |