Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.52766472A= | CA1910257082 | MBL2 | c.*1665T= (n.*1665T=) | |
10 | g.52766472A>C | CA666356625 | MBL2 | c.*1665T>G (n.*1665T>G) | dbSNP |
10 | g.52766472A>G | CA593571573 | MBL2 | c.*1665T>C (n.*1665T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52766473T>C | CA2609208945 | MBL2 | c.*1664A>G (n.*1664A>G) | gnomAD v4 |
10 | g.52766473T>G | CA207456861 | MBL2 | c.*1664A>C (n.*1664A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52766473T= | CA1910257083 | MBL2 | c.*1664A= (n.*1664A=) | |
10 | g.52766476T>G | CA2721868248 | MBL2 | c.*1661A>C (n.*1661A>C) | dbSNP |
10 | g.52766479C>A | CA928435802 | MBL2 | c.*1658G>T (n.*1658G>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766479C= | CA1910257084 | MBL2 | c.*1658G= (n.*1658G=) | |
10 | g.52766479C>T | CA2788008617 | MBL2 | c.*1658G>A (n.*1658G>A) | |
10 | g.52766482G>A | CA2788008618 | MBL2 | c.*1655C>T (n.*1655C>T) | |
10 | g.52766482G>T | CA2609208946 | MBL2 | c.*1655C>A (n.*1655C>A) | gnomAD v4 |
10 | g.52766483_52766487delinsAATAG | CA1910257085 | MBL2 | c.*1650_*1654delinsCTATT (n.*1650_*1654delinsCTATT) | |
10 | g.52766489_52766492del | CA928435813 | MBL2 | c.*1650_*1653del (n.*1650_*1653del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766487G>A | CA1910257087 | MBL2 | c.*1650C>T (n.*1650C>T) | dbSNP |
10 | g.52766487G= | CA1910257086 | MBL2 | c.*1650C= (n.*1650C=) | |
10 | g.52766490_52766494delinsAGAAT | CA1910257088 | MBL2 | c.*1643_*1647delinsATTCT (n.*1643_*1647delinsATTCT) | |
10 | g.52766492_52766495del | CA1910257089 | MBL2 | c.*1643_*1646del (n.*1643_*1646del) | dbSNP |
10 | g.52766493A= | CA1910257090 | MBL2 | c.*1644T= (n.*1644T=) | |
10 | g.52766493A>G | CA666356630 | MBL2 | c.*1644T>C (n.*1644T>C) | dbSNP |
10 | g.52766500T>C | CA2524682269 | MBL2 | c.*1637A>G (n.*1637A>G) | |
10 | g.52766505A= | CA1910257091 | MBL2 | c.*1632T= (n.*1632T=) | |
10 | g.52766505A>T | CA207456862 | MBL2 | c.*1632T>A (n.*1632T>A) | dbSNP |
10 | g.52766509C>A | CA2609208947 | MBL2 | c.*1628G>T (n.*1628G>T) | gnomAD v4 |
10 | g.52766512T>C | CA928435819 | MBL2 | c.*1625A>G (n.*1625A>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766512T= | CA1910257092 | MBL2 | c.*1625A= (n.*1625A=) | |
10 | g.52766515G>C | CA1910257095 | MBL2 | c.*1622C>G (n.*1622C>G) | dbSNP |
10 | g.52766515G= | CA1910257094 | MBL2 | c.*1622C= (n.*1622C=) | |
10 | g.52766515_52766516delinsGA | CA1910257093 | MBL2 | c.*1621_*1622delinsTC (n.*1621_*1622delinsTC) | |
10 | g.52766522dup | CA666356632 | MBL2 | c.*1621dup (n.*1621dup) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766522del | CA1910257096 | MBL2 | c.*1621del (n.*1621del) | dbSNP |
10 | g.52766517A= | CA1910257097 | MBL2 | c.*1620T= (n.*1620T=) | |
10 | g.52766517A>C | CA1910257098 | MBL2 | c.*1620T>G (n.*1620T>G) | dbSNP |
10 | g.52766518A= | CA1910257099 | MBL2 | c.*1619T= (n.*1619T=) | |
10 | g.52766518A>G | CA666356637 | MBL2 | c.*1619T>C (n.*1619T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766519A= | CA1910257100 | MBL2 | c.*1618T= (n.*1618T=) | |
10 | g.52766519A>G | CA1910257101 | MBL2 | c.*1618T>C (n.*1618T>C) | dbSNP |
10 | g.52766520A= | CA1910257102 | MBL2 | c.*1617T= (n.*1617T=) | |
10 | g.52766520A>C | CA207456863 | MBL2 | c.*1617T>G (n.*1617T>G) | dbSNP |
10 | g.52766523T>A | CA1910257104 | MBL2 | c.*1614A>T (n.*1614A>T) | dbSNP |
10 | g.52766523T= | CA1910257103 | MBL2 | c.*1614A= (n.*1614A=) | |
10 | g.52766524G= | CA1910257105 | MBL2 | c.*1613C= (n.*1613C=) | |
10 | g.52766524G>T | CA666356641 | MBL2 | c.*1613C>A (n.*1613C>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766524_52766553delinsGGAAAAATATCTTCATGATTTCAAAATCAT | CA1910257106 | MBL2 | c.*1584_*1613delinsATGATTTTGAAATCATGAAGATATTTTTCC (n.*1584_*1613delinsATGATTTTGAAATCATGAAGATATTTTTCC) | |
10 | g.52766525G= | CA1910257107 | MBL2 | c.*1612C= (n.*1612C=) | |
10 | g.52766532_52766560del | CA928435826 | MBL2 | c.*1584_*1612del (n.*1584_*1612del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766530dup | CA928435829 | MBL2 | c.*1611dup (n.*1611dup) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766529A= | CA1910257108 | MBL2 | c.*1608T= (n.*1608T=) | |
10 | g.52766529A>C | CA1910257109 | MBL2 | c.*1608T>G (n.*1608T>G) | dbSNP |
10 | g.52766530A= | CA1910257110 | MBL2 | c.*1607T= (n.*1607T=) |