3 | g.142816388G>A | CA84786914 | PCOLCE2 | c.648+147C>T (n.648+147C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142816388G>C | CA1407141133 | PCOLCE2 | c.648+147C>G (n.648+147C>G)
| dbSNP |
3 | g.142816388G= | CA1407141134 | PCOLCE2 | c.648+147C= (n.648+147C=)
| |
3 | g.142816391G>C | CA2605050994 | PCOLCE2 | c.648+144C>G (n.648+144C>G)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.142816392T>C | CA84786917 | PCOLCE2 | c.648+143A>G (n.648+143A>G)
| dbSNP |
3 | g.142816392T>G | CA2758709071 | PCOLCE2 | c.648+143A>C (n.648+143A>C)
| |
3 | g.142816392T= | CA1407141135 | PCOLCE2 | c.648+143A= (n.648+143A=)
| |
3 | g.142816397G>T | CA2758709072 | PCOLCE2 | c.648+138C>A (n.648+138C>A)
| |
3 | g.142816398A= | CA1407141136 | PCOLCE2 | c.648+137T= (n.648+137T=)
| |
3 | g.142816398A>G | CA1054363072 | PCOLCE2 | c.648+137T>C (n.648+137T>C)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.142816399C>A | CA2668052462 | PCOLCE2 | c.648+136G>T (n.648+136G>T)
| gnomAD v4 |
3 | g.142816403C= | CA1407141137 | PCOLCE2 | c.648+132G= (n.648+132G=)
| |
3 | g.142816403C>G | CA1407141138 | PCOLCE2 | c.648+132G>C (n.648+132G>C)
| dbSNP |
3 | g.142816404C>A | CA2758709073 | PCOLCE2 | c.648+131G>T (n.648+131G>T)
| |
3 | g.142816405A= | CA1407141139 | PCOLCE2 | c.648+130T= (n.648+130T=)
| |
3 | g.142816405A>C | CA899938078 | PCOLCE2 | c.648+130T>G (n.648+130T>G)
| dbSNP |
3 | g.142816408G>T | CA2668052463 | PCOLCE2 | c.648+127C>A (n.648+127C>A)
| gnomAD v4 |
3 | g.142816409_142816413delinsCCACA | CA1407141140 | PCOLCE2 | c.648+122_648+126delinsTGTGG (n.648+122_648+126delinsTGTGG)
| |
3 | g.142816410C>T | CA2668052464 | PCOLCE2 | c.648+125G>A (n.648+125G>A)
| gnomAD v4 |
3 | g.142816415_142816416del | CA1407141141 | PCOLCE2 | c.648+124_648+125del (n.648+124_648+125del)
| dbSNP |
3 | g.142816413_142816416del | CA899938079 | PCOLCE2 | c.648+122_648+125del (n.648+122_648+125del)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.142816414C= | CA1407141143 | PCOLCE2 | c.648+121G= (n.648+121G=)
| |
3 | g.142816414C>T | CA84786920 | PCOLCE2 | c.648+121G>A (n.648+121G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142816414_142816415delinsCA | CA1407141142 | PCOLCE2 | c.648+120_648+121delinsTG (n.648+120_648+121delinsTG)
| |
3 | g.142816415del | CA1407141144 | PCOLCE2 | c.648+120del (n.648+120del)
| dbSNP |
3 | g.142816415A= | CA1407141146 | PCOLCE2 | c.648+120T= (n.648+120T=)
| |
3 | g.142816415A>G | CA546587675 | PCOLCE2 | c.648+120T>C (n.648+120T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142816415_142816417delinsACT | CA1407141145 | PCOLCE2 | c.648+118_648+120delinsAGT (n.648+118_648+120delinsAGT)
| |
3 | g.142816416_142816417del | CA917025092 | PCOLCE2 | c.648+118_648+119del (n.648+118_648+119del)
| dbSNP |
3 | g.142816416_142816418delinsCTT | CA1407141147 | PCOLCE2 | c.648+117_648+119delinsAAG (n.648+117_648+119delinsAAG)
| |
3 | g.142816419_142816420del | CA1407141148 | PCOLCE2 | c.648+117_648+118del (n.648+117_648+118del)
| dbSNP |
3 | g.142816418T>G | CA2704277625 | PCOLCE2 | c.648+117A>C (n.648+117A>C)
| dbSNP |
3 | g.142816420T>C | CA2668052465 | PCOLCE2 | c.648+115A>G (n.648+115A>G)
| gnomAD v4 |
3 | g.142816423C>T | CA2668052466 | PCOLCE2 | c.648+112G>A (n.648+112G>A)
| gnomAD v4 |
3 | g.142816424C>A | CA2581900845 | PCOLCE2 | c.648+111G>T (n.648+111G>T)
| |
3 | g.142816424C= | CA1407141149 | PCOLCE2 | c.648+111G= (n.648+111G=)
| |
3 | g.142816424C>G | CA2581900844 | PCOLCE2 | c.648+111G>C (n.648+111G>C)
| |
3 | g.142816424C>T | CA84786930 | PCOLCE2 | c.648+111G>A (n.648+111G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142816425G>A | CA84786946 | PCOLCE2 | c.648+110C>T (n.648+110C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142816425G= | CA1407141150 | PCOLCE2 | c.648+110C= (n.648+110C=)
| |
3 | g.142816427G>T | CA2560821030 | PCOLCE2 | c.648+108C>A (n.648+108C>A)
| |
3 | g.142816431C>A | CA899938083 | PCOLCE2 | c.648+104G>T (n.648+104G>T)
| dbSNP gnomAD v4 |
3 | g.142816431C= | CA1407141151 | PCOLCE2 | c.648+104G= (n.648+104G=)
| |
3 | g.142816432C>A | CA2668052467 | PCOLCE2 | c.648+103G>T (n.648+103G>T)
| gnomAD v4 |
3 | g.142816432C= | CA1407141153 | PCOLCE2 | c.648+103G= (n.648+103G=)
| |
3 | g.142816432C>T | CA1407141152 | PCOLCE2 | c.648+103G>A (n.648+103G>A)
| dbSNP |
3 | g.142816433C>A | CA2668052468 | PCOLCE2 | c.648+102G>T (n.648+102G>T)
| gnomAD v4 |
3 | g.142816448A>G | CA2668052469 | PCOLCE2 | c.648+87T>C (n.648+87T>C)
| gnomAD v4 |
3 | g.142816450T>C | CA2704277627 | PCOLCE2 | c.648+85A>G (n.648+85A>G)
| dbSNP |
3 | g.142816451A= | CA1407141154 | PCOLCE2 | c.648+84T= (n.648+84T=)
| |
3 | g.142816451A>C | CA1054363076 | PCOLCE2 | c.648+84T>G (n.648+84T>G)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.142816455T>C | CA84786949 | PCOLCE2 | c.648+80A>G (n.648+80A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142816455T= | CA1407141155 | PCOLCE2 | c.648+80A= (n.648+80A=)
| |
3 | g.142816458C>A | CA2668052470 | PCOLCE2 | c.648+77G>T (n.648+77G>T)
| gnomAD v4 |
3 | g.142816458C= | CA1407141156 | PCOLCE2 | c.648+77G= (n.648+77G=)
| |
3 | g.142816458C>G | CA2668052471 | PCOLCE2 | c.648+77G>C (n.648+77G>C)
| gnomAD v4 |
3 | g.142816458C>T | CA84786957 | PCOLCE2 | c.648+77G>A (n.648+77G>A)
| dbSNP gnomAD v4 |
3 | g.142816459A>G | CA2758709074 | PCOLCE2 | c.648+76T>C (n.648+76T>C)
| |
3 | g.142816460G>T | CA2758709075 | PCOLCE2 | c.648+75C>A (n.648+75C>A)
| |
3 | g.142816464T>A | CA899938086 | PCOLCE2 | c.648+71A>T (n.648+71A>T)
| dbSNP |
3 | g.142816464T>C | CA84786974 | PCOLCE2 | c.648+71A>G (n.648+71A>G)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.142816464T= | CA1407141157 | PCOLCE2 | c.648+71A= (n.648+71A=)
| |
3 | g.142816465G>A | CA546587678 | PCOLCE2 | c.648+70C>T (n.648+70C>T)
| dbSNP gnomAD v2 |
3 | g.142816465G= | CA1407141158 | PCOLCE2 | c.648+70C= (n.648+70C=)
| |
3 | g.142816466T>C | CA2668052472 | PCOLCE2 | c.648+69A>G (n.648+69A>G)
| gnomAD v4 |
3 | g.142816467C>A | CA2668052473 | PCOLCE2 | c.648+68G>T (n.648+68G>T)
| gnomAD v4 |
3 | g.142816467C= | CA1407141159 | PCOLCE2 | c.648+68G= (n.648+68G=)
| |
3 | g.142816467C>T | CA1054363079 | PCOLCE2 | c.648+68G>A (n.648+68G>A)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.142816470T>A | CA2668052474 | PCOLCE2 | c.648+65A>T (n.648+65A>T)
| gnomAD v4 |
3 | g.142816470T>C | CA84786997 | PCOLCE2 | c.648+65A>G (n.648+65A>G)
| dbSNP |
3 | g.142816470T= | CA1407141160 | PCOLCE2 | c.648+65A= (n.648+65A=)
| |
3 | g.142816471A>G | CA2668052475 | PCOLCE2 | c.648+64T>C (n.648+64T>C)
| gnomAD v4 |
3 | g.142816473T>C | CA899938089 | PCOLCE2 | c.648+62A>G (n.648+62A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142816473T= | CA1407141161 | PCOLCE2 | c.648+62A= (n.648+62A=)
| |
3 | g.142816479T>C | CA1407141163 | PCOLCE2 | c.648+56A>G (n.648+56A>G)
| dbSNP |
3 | g.142816479T= | CA1407141162 | PCOLCE2 | c.648+56A= (n.648+56A=)
| |
3 | g.142816480A= | CA1407141164 | PCOLCE2 | c.648+55T= (n.648+55T=)
| |
3 | g.142816480A>G | CA1054363080 | PCOLCE2 | c.648+55T>C (n.648+55T>C)
| dbSNP |
3 | g.142816484dup | CA2758709076 | PCOLCE2 | c.648+53dup (n.648+53dup)
| |
3 | g.142816482_142816487delinsTTTAGA | CA1407141165 | PCOLCE2 | c.648+48_648+53delinsTCTAAA (n.648+48_648+53delinsTCTAAA)
| |
3 | g.142816486_142816490del | CA1054363081 | PCOLCE2 | c.648+48_648+52del (n.648+48_648+52del)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.142816484_142816498delinsTAGATTACTCTTCTC | CA1407141166 | PCOLCE2 | c.648+37_648+51delinsGAGAAGAGTAATCTA (n.648+37_648+51delinsGAGAAGAGTAATCTA)
| |
3 | g.142816487_142816500del | CA1407141167 | PCOLCE2 | c.648+37_648+50del (n.648+37_648+50del)
| dbSNP |
3 | g.142816486G>T | CA2668052476 | PCOLCE2 | c.648+49C>A (n.648+49C>A)
| gnomAD v4 |