Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233760719C>A | CA351066664 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6315C>A (n.856-6315C>A) c.868-6315C>A (n.868-6315C>A) c.862-6315C>A (n.862-6315C>A) c.432C>A (p.Ser144Arg) c.61-6315C>A (n.61-6315C>A) c.442-6315C>A (n.442-6315C>A) | gnomAD v4 |
2 | g.233760719C>G | CA351066665 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6315C>G (n.856-6315C>G) c.868-6315C>G (n.868-6315C>G) c.862-6315C>G (n.862-6315C>G) c.432C>G (p.Ser144Arg) c.61-6315C>G (n.61-6315C>G) c.442-6315C>G (n.442-6315C>G) | |
2 | g.233760719C>T | CA431960425 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6315C>T (n.856-6315C>T) c.868-6315C>T (n.868-6315C>T) c.862-6315C>T (n.862-6315C>T) c.432C>T (p.Ser144=) c.61-6315C>T (n.61-6315C>T) c.442-6315C>T (n.442-6315C>T) | |
2 | g.233760720T>A | CA351066666 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6314T>A (n.856-6314T>A) c.868-6314T>A (n.868-6314T>A) c.862-6314T>A (n.862-6314T>A) c.433T>A (p.Phe145Ile) c.61-6314T>A (n.61-6314T>A) c.442-6314T>A (n.442-6314T>A) | |
2 | g.233760720T>C | CA351066667 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6314T>C (n.856-6314T>C) c.868-6314T>C (n.868-6314T>C) c.862-6314T>C (n.862-6314T>C) c.433T>C (p.Phe145Leu) c.61-6314T>C (n.61-6314T>C) c.442-6314T>C (n.442-6314T>C) | |
2 | g.233760720T>G | CA351066668 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6314T>G (n.856-6314T>G) c.868-6314T>G (n.868-6314T>G) c.862-6314T>G (n.862-6314T>G) c.433T>G (p.Phe145Val) c.61-6314T>G (n.61-6314T>G) c.442-6314T>G (n.442-6314T>G) | COSMIC |
2 | g.233760721T>A | CA351066669 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6313T>A (n.856-6313T>A) c.868-6313T>A (n.868-6313T>A) c.862-6313T>A (n.862-6313T>A) c.434T>A (p.Phe145Tyr) c.61-6313T>A (n.61-6313T>A) c.442-6313T>A (n.442-6313T>A) | |
2 | g.233760721T>C | CA351066671 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6313T>C (n.856-6313T>C) c.868-6313T>C (n.868-6313T>C) c.862-6313T>C (n.862-6313T>C) c.434T>C (p.Phe145Ser) c.61-6313T>C (n.61-6313T>C) c.442-6313T>C (n.442-6313T>C) | |
2 | g.233760721T>G | CA351066670 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6313T>G (n.856-6313T>G) c.868-6313T>G (n.868-6313T>G) c.862-6313T>G (n.862-6313T>G) c.434T>G (p.Phe145Cys) c.61-6313T>G (n.61-6313T>G) c.442-6313T>G (n.442-6313T>G) | |
2 | g.233760722T>A | CA351066672 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6312T>A (n.856-6312T>A) c.868-6312T>A (n.868-6312T>A) c.862-6312T>A (n.862-6312T>A) c.435T>A (p.Phe145Leu) c.61-6312T>A (n.61-6312T>A) c.442-6312T>A (n.442-6312T>A) | |
2 | g.233760722T>C | CA431960426 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6312T>C (n.856-6312T>C) c.868-6312T>C (n.868-6312T>C) c.862-6312T>C (n.862-6312T>C) c.435T>C (p.Phe145=) c.61-6312T>C (n.61-6312T>C) c.442-6312T>C (n.442-6312T>C) | |
2 | g.233760722T>G | CA351066673 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6312T>G (n.856-6312T>G) c.868-6312T>G (n.868-6312T>G) c.862-6312T>G (n.862-6312T>G) c.435T>G (p.Phe145Leu) c.61-6312T>G (n.61-6312T>G) c.442-6312T>G (n.442-6312T>G) | |
2 | g.233760723G>A | CA351066674 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6311G>A (n.856-6311G>A) c.868-6311G>A (n.868-6311G>A) c.862-6311G>A (n.862-6311G>A) c.436G>A (p.Asp146Asn) c.61-6311G>A (n.61-6311G>A) c.442-6311G>A (n.442-6311G>A) | |
2 | g.233760723G>C | CA351066675 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6311G>C (n.856-6311G>C) c.868-6311G>C (n.868-6311G>C) c.862-6311G>C (n.862-6311G>C) c.436G>C (p.Asp146His) c.61-6311G>C (n.61-6311G>C) c.442-6311G>C (n.442-6311G>C) | |
2 | g.233760723G>T | CA351066676 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6311G>T (n.856-6311G>T) c.868-6311G>T (n.868-6311G>T) c.862-6311G>T (n.862-6311G>T) c.436G>T (p.Asp146Tyr) c.61-6311G>T (n.61-6311G>T) c.442-6311G>T (n.442-6311G>T) | |
2 | g.233760724A>C | CA351066677 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6310A>C (n.856-6310A>C) c.868-6310A>C (n.868-6310A>C) c.862-6310A>C (n.862-6310A>C) c.437A>C (p.Asp146Ala) c.61-6310A>C (n.61-6310A>C) c.442-6310A>C (n.442-6310A>C) | |
2 | g.233760724A>G | CA351066678 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6310A>G (n.856-6310A>G) c.868-6310A>G (n.868-6310A>G) c.862-6310A>G (n.862-6310A>G) c.437A>G (p.Asp146Gly) c.61-6310A>G (n.61-6310A>G) c.442-6310A>G (n.442-6310A>G) | |
2 | g.233760724A>T | CA351066679 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6310A>T (n.856-6310A>T) c.868-6310A>T (n.868-6310A>T) c.862-6310A>T (n.862-6310A>T) c.437A>T (p.Asp146Val) c.61-6310A>T (n.61-6310A>T) c.442-6310A>T (n.442-6310A>T) | |
2 | g.233760725T>A | CA351066680 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6309T>A (n.856-6309T>A) c.868-6309T>A (n.868-6309T>A) c.862-6309T>A (n.862-6309T>A) c.438T>A (p.Asp146Glu) c.61-6309T>A (n.61-6309T>A) c.442-6309T>A (n.442-6309T>A) | |
2 | g.233760725T>C | CA431960427 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6309T>C (n.856-6309T>C) c.868-6309T>C (n.868-6309T>C) c.862-6309T>C (n.862-6309T>C) c.438T>C (p.Asp146=) c.61-6309T>C (n.61-6309T>C) c.442-6309T>C (n.442-6309T>C) | |
2 | g.233760725T>G | CA351066681 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6309T>G (n.856-6309T>G) c.868-6309T>G (n.868-6309T>G) c.862-6309T>G (n.862-6309T>G) c.438T>G (p.Asp146Glu) c.61-6309T>G (n.61-6309T>G) c.442-6309T>G (n.442-6309T>G) | |
2 | g.233760726G>A | CA351066682 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6308G>A (n.856-6308G>A) c.868-6308G>A (n.868-6308G>A) c.862-6308G>A (n.862-6308G>A) c.439G>A (p.Val147Ile) c.61-6308G>A (n.61-6308G>A) c.442-6308G>A (n.442-6308G>A) | |
2 | g.233760726G>C | CA351066683 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6308G>C (n.856-6308G>C) c.868-6308G>C (n.868-6308G>C) c.862-6308G>C (n.862-6308G>C) c.439G>C (p.Val147Leu) c.61-6308G>C (n.61-6308G>C) c.442-6308G>C (n.442-6308G>C) | |
2 | g.233760726G>T | CA351066684 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6308G>T (n.856-6308G>T) c.868-6308G>T (n.868-6308G>T) c.862-6308G>T (n.862-6308G>T) c.439G>T (p.Val147Phe) c.61-6308G>T (n.61-6308G>T) c.442-6308G>T (n.442-6308G>T) | |
2 | g.233760727T>A | CA351066687 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6307T>A (n.856-6307T>A) c.868-6307T>A (n.868-6307T>A) c.862-6307T>A (n.862-6307T>A) c.440T>A (p.Val147Asp) c.61-6307T>A (n.61-6307T>A) c.442-6307T>A (n.442-6307T>A) | |
2 | g.233760727T>C | CA351066685 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6307T>C (n.856-6307T>C) c.868-6307T>C (n.868-6307T>C) c.862-6307T>C (n.862-6307T>C) c.440T>C (p.Val147Ala) c.61-6307T>C (n.61-6307T>C) c.442-6307T>C (n.442-6307T>C) | |
2 | g.233760727T>G | CA351066686 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6307T>G (n.856-6307T>G) c.868-6307T>G (n.868-6307T>G) c.862-6307T>G (n.862-6307T>G) c.440T>G (p.Val147Gly) c.61-6307T>G (n.61-6307T>G) c.442-6307T>G (n.442-6307T>G) | gnomAD v4 |
2 | g.233760728C>A | CA431960429 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6306C>A (n.856-6306C>A) c.868-6306C>A (n.868-6306C>A) c.862-6306C>A (n.862-6306C>A) c.441C>A (p.Val147=) c.61-6306C>A (n.61-6306C>A) c.442-6306C>A (n.442-6306C>A) | COSMIC |
2 | g.233760728C= | CA1335889371 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6306C= (n.856-6306C=) c.868-6306C= (n.868-6306C=) c.862-6306C= (n.862-6306C=) c.441C= (p.Val147=) c.61-6306C= (n.61-6306C=) c.442-6306C= (n.442-6306C=) | |
2 | g.233760728C>G | CA431960428 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6306C>G (n.856-6306C>G) c.868-6306C>G (n.868-6306C>G) c.862-6306C>G (n.862-6306C>G) c.441C>G (p.Val147=) c.61-6306C>G (n.61-6306C>G) c.442-6306C>G (n.442-6306C>G) | |
2 | g.233760728C>T | CA431960430 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6306C>T (n.856-6306C>T) c.868-6306C>T (n.868-6306C>T) c.862-6306C>T (n.862-6306C>T) c.441C>T (p.Val147=) c.61-6306C>T (n.61-6306C>T) c.442-6306C>T (n.442-6306C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760729A= | CA1335889373 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6305A= (n.856-6305A=) c.868-6305A= (n.868-6305A=) c.862-6305A= (n.862-6305A=) c.442A= (p.Met148=) c.61-6305A= (n.61-6305A=) c.442-6305A= (n.442-6305A=) | |
2 | g.233760729A>C | CA351066688 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6305A>C (n.856-6305A>C) c.868-6305A>C (n.868-6305A>C) c.862-6305A>C (n.862-6305A>C) c.442A>C (p.Met148Leu) c.61-6305A>C (n.61-6305A>C) c.442-6305A>C (n.442-6305A>C) | |
2 | g.233760729A>G | CA351066689 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6305A>G (n.856-6305A>G) c.868-6305A>G (n.868-6305A>G) c.862-6305A>G (n.862-6305A>G) c.442A>G (p.Met148Val) c.61-6305A>G (n.61-6305A>G) c.442-6305A>G (n.442-6305A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760729A>T | CA351066690 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6305A>T (n.856-6305A>T) c.868-6305A>T (n.868-6305A>T) c.862-6305A>T (n.862-6305A>T) c.442A>T (p.Met148Leu) c.61-6305A>T (n.61-6305A>T) c.442-6305A>T (n.442-6305A>T) | |
2 | g.233760730T>A | CA351066691 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6304T>A (n.856-6304T>A) c.868-6304T>A (n.868-6304T>A) c.862-6304T>A (n.862-6304T>A) c.443T>A (p.Met148Lys) c.61-6304T>A (n.61-6304T>A) c.442-6304T>A (n.442-6304T>A) | |
2 | g.233760730T>C | CA351066692 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6304T>C (n.856-6304T>C) c.868-6304T>C (n.868-6304T>C) c.862-6304T>C (n.862-6304T>C) c.443T>C (p.Met148Thr) c.61-6304T>C (n.61-6304T>C) c.442-6304T>C (n.442-6304T>C) | |
2 | g.233760730T>G | CA351066693 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6304T>G (n.856-6304T>G) c.868-6304T>G (n.868-6304T>G) c.862-6304T>G (n.862-6304T>G) c.443T>G (p.Met148Arg) c.61-6304T>G (n.61-6304T>G) c.442-6304T>G (n.442-6304T>G) | |
2 | g.233760731G>A | CA351066694 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6303G>A (n.856-6303G>A) c.868-6303G>A (n.868-6303G>A) c.862-6303G>A (n.862-6303G>A) c.444G>A (p.Met148Ile) c.61-6303G>A (n.61-6303G>A) c.442-6303G>A (n.442-6303G>A) | |
2 | g.233760731G>C | CA351066695 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6303G>C (n.856-6303G>C) c.868-6303G>C (n.868-6303G>C) c.862-6303G>C (n.862-6303G>C) c.444G>C (p.Met148Ile) c.61-6303G>C (n.61-6303G>C) c.442-6303G>C (n.442-6303G>C) | |
2 | g.233760731G>T | CA351066696 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6303G>T (n.856-6303G>T) c.868-6303G>T (n.868-6303G>T) c.862-6303G>T (n.862-6303G>T) c.444G>T (p.Met148Ile) c.61-6303G>T (n.61-6303G>T) c.442-6303G>T (n.442-6303G>T) | |
2 | g.233760732C>A | CA351066697 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6302C>A (n.856-6302C>A) c.868-6302C>A (n.868-6302C>A) c.862-6302C>A (n.862-6302C>A) c.445C>A (p.Leu149Met) c.61-6302C>A (n.61-6302C>A) c.442-6302C>A (n.442-6302C>A) | |
2 | g.233760732C>G | CA351066698 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6302C>G (n.856-6302C>G) c.868-6302C>G (n.868-6302C>G) c.862-6302C>G (n.862-6302C>G) c.445C>G (p.Leu149Val) c.61-6302C>G (n.61-6302C>G) c.442-6302C>G (n.442-6302C>G) | |
2 | g.233760732C>T | CA431960431 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6302C>T (n.856-6302C>T) c.868-6302C>T (n.868-6302C>T) c.862-6302C>T (n.862-6302C>T) c.445C>T (p.Leu149=) c.61-6302C>T (n.61-6302C>T) c.442-6302C>T (n.442-6302C>T) | |
2 | g.233760733T>A | CA351066700 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6301T>A (n.856-6301T>A) c.868-6301T>A (n.868-6301T>A) c.862-6301T>A (n.862-6301T>A) c.446T>A (p.Leu149Gln) c.61-6301T>A (n.61-6301T>A) c.442-6301T>A (n.442-6301T>A) | |
2 | g.233760733T>C | CA351066701 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6301T>C (n.856-6301T>C) c.868-6301T>C (n.868-6301T>C) c.862-6301T>C (n.862-6301T>C) c.446T>C (p.Leu149Pro) c.61-6301T>C (n.61-6301T>C) c.442-6301T>C (n.442-6301T>C) | |
2 | g.233760733T>G | CA351066699 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6301T>G (n.856-6301T>G) c.868-6301T>G (n.868-6301T>G) c.862-6301T>G (n.862-6301T>G) c.446T>G (p.Leu149Arg) c.61-6301T>G (n.61-6301T>G) c.442-6301T>G (n.442-6301T>G) | gnomAD v4 |
2 | g.233760733_233760741delinsTGACGGACC | CA1335889375 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6301_856-6293delinsTGACGGACC (n.856-6301_856-6293delinsTGACGGACC) c.868-6301_868-6293delinsTGACGGACC (n.868-6301_868-6293delinsTGACGGACC) c.862-6301_862-6293delinsTGACGGACC (n.862-6301_862-6293delinsTGACGGACC) c.446_454delinsTGACGGACC (p.Leu149=) c.61-6301_61-6293delinsTGACGGACC (n.61-6301_61-6293delinsTGACGGACC) c.442-6301_442-6293delinsTGACGGACC (n.442-6301_442-6293delinsTGACGGACC) | |
2 | g.233760734G>A | CA431960432 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6300G>A (n.856-6300G>A) c.868-6300G>A (n.868-6300G>A) c.862-6300G>A (n.862-6300G>A) c.447G>A (p.Leu149=) c.61-6300G>A (n.61-6300G>A) c.442-6300G>A (n.442-6300G>A) | |
2 | g.233760734G>C | CA431960434 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6300G>C (n.856-6300G>C) c.868-6300G>C (n.868-6300G>C) c.862-6300G>C (n.862-6300G>C) c.447G>C (p.Leu149=) c.61-6300G>C (n.61-6300G>C) c.442-6300G>C (n.442-6300G>C) | dbSNP gnomAD v3 gnomAD v4 |