| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.50130488A= | CA2136058785 | SOS2 | c.3337+13T= (n.3337+13T=) c.3238+13T= (n.3238+13T=) c.3157+13T= (n.3157+13T=) c.3298+13T= (n.3298+13T=) | |
| 14 | g.50130488A>T | CA2136058786 | SOS2 | c.3337+13T>A (n.3337+13T>A) c.3238+13T>A (n.3238+13T>A) c.3157+13T>A (n.3157+13T>A) c.3298+13T>A (n.3298+13T>A) | dbSNP |
| 14 | g.50130491A= | CA2136058787 | SOS2 | c.3337+10T= (n.3337+10T=) c.3238+10T= (n.3238+10T=) c.3157+10T= (n.3157+10T=) c.3298+10T= (n.3298+10T=) | |
| 14 | g.50130491A>G | CA2136058788 | SOS2 | c.3337+10T>C (n.3337+10T>C) c.3238+10T>C (n.3238+10T>C) c.3157+10T>C (n.3157+10T>C) c.3298+10T>C (n.3298+10T>C) | ClinVar dbSNP gnomAD v4 |
| 14 | g.50130492A= | CA2136058789 | SOS2 | c.3337+9T= (n.3337+9T=) c.3238+9T= (n.3238+9T=) c.3157+9T= (n.3157+9T=) c.3298+9T= (n.3298+9T=) | |
| 14 | g.50130492A>T | CA2136058790 | SOS2 | c.3337+9T>A (n.3337+9T>A) c.3238+9T>A (n.3238+9T>A) c.3157+9T>A (n.3157+9T>A) c.3298+9T>A (n.3298+9T>A) | dbSNP |
| 14 | g.50130493A>C | CA2624769278 | SOS2 | c.3337+8T>G (n.3337+8T>G) c.3238+8T>G (n.3238+8T>G) c.3157+8T>G (n.3157+8T>G) c.3298+8T>G (n.3298+8T>G) | gnomAD v4 |
| 14 | g.50130493A>G | CA2624769279 | SOS2 | c.3337+8T>C (n.3337+8T>C) c.3238+8T>C (n.3238+8T>C) c.3157+8T>C (n.3157+8T>C) c.3298+8T>C (n.3298+8T>C) | gnomAD v4 |
| 14 | g.50130495A>C | CA2575520262 | SOS2 | c.3337+6T>G (n.3337+6T>G) c.3238+6T>G (n.3238+6T>G) c.3157+6T>G (n.3157+6T>G) c.3298+6T>G (n.3298+6T>G) | gnomAD v4 |
| 14 | g.50130495A>G | CA2624769280 | SOS2 | c.3337+6T>C (n.3337+6T>C) c.3238+6T>C (n.3238+6T>C) c.3157+6T>C (n.3157+6T>C) c.3298+6T>C (n.3298+6T>C) | gnomAD v4 |
| 14 | g.50130496C= | CA2136058791 | SOS2 | c.3337+5G= (n.3337+5G=) c.3238+5G= (n.3238+5G=) c.3157+5G= (n.3157+5G=) c.3298+5G= (n.3298+5G=) | |
| 14 | g.50130496C>T | CA7176840 | SOS2 | c.3337+5G>A (n.3337+5G>A) c.3238+5G>A (n.3238+5G>A) c.3157+5G>A (n.3157+5G>A) c.3298+5G>A (n.3298+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50130497T>A | CA2524011441 | SOS2 | c.3337+4A>T (n.3337+4A>T) c.3238+4A>T (n.3238+4A>T) c.3157+4A>T (n.3157+4A>T) c.3298+4A>T (n.3298+4A>T) | |
| 14 | g.50130497T>C | CA260713889 | SOS2 | c.3337+4A>G (n.3337+4A>G) c.3238+4A>G (n.3238+4A>G) c.3157+4A>G (n.3157+4A>G) c.3298+4A>G (n.3298+4A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50130497T>G | CA2624769281 | SOS2 | c.3337+4A>C (n.3337+4A>C) c.3238+4A>C (n.3238+4A>C) c.3157+4A>C (n.3157+4A>C) c.3298+4A>C (n.3298+4A>C) | gnomAD v4 |
| 14 | g.50130497T= | CA2136058792 | SOS2 | c.3337+4A= (n.3337+4A=) c.3238+4A= (n.3238+4A=) c.3157+4A= (n.3157+4A=) c.3298+4A= (n.3298+4A=) | |
| 14 | g.50130499A= | CA2136058793 | SOS2 | c.3337+2T= (n.3337+2T=) c.3238+2T= (n.3238+2T=) c.3157+2T= (n.3157+2T=) c.3298+2T= (n.3298+2T=) | |
| 14 | g.50130499A>C | CA389640320 | SOS2 | c.3337+2T>G (n.3337+2T>G) c.3238+2T>G (n.3238+2T>G) c.3157+2T>G (n.3157+2T>G) c.3298+2T>G (n.3298+2T>G) | |
| 14 | g.50130499A>G | CA389640321 | SOS2 | c.3337+2T>C (n.3337+2T>C) c.3238+2T>C (n.3238+2T>C) c.3157+2T>C (n.3157+2T>C) c.3298+2T>C (n.3298+2T>C) | dbSNP |
| 14 | g.50130499A>T | CA389640322 | SOS2 | c.3337+2T>A (n.3337+2T>A) c.3238+2T>A (n.3238+2T>A) c.3157+2T>A (n.3157+2T>A) c.3298+2T>A (n.3298+2T>A) | |
| 14 | g.50130500C>A | CA389640323 | SOS2 | c.3337+1G>T (n.3337+1G>T) c.3238+1G>T (n.3238+1G>T) c.3157+1G>T (n.3157+1G>T) c.3298+1G>T (n.3298+1G>T) | |
| 14 | g.50130500C>G | CA389640324 | SOS2 | c.3337+1G>C (n.3337+1G>C) c.3238+1G>C (n.3238+1G>C) c.3157+1G>C (n.3157+1G>C) c.3298+1G>C (n.3298+1G>C) | gnomAD v4 |
| 14 | g.50130500C>T | CA389640325 | SOS2 | c.3337+1G>A (n.3337+1G>A) c.3238+1G>A (n.3238+1G>A) c.3157+1G>A (n.3157+1G>A) c.3298+1G>A (n.3298+1G>A) | |
| 14 | g.50130501C>A | CA389640328 | SOS2 | c.3337G>T (p.Gly1113Cys) c.3238G>T (p.Gly1080Cys) c.3157G>T (p.Gly1053Cys) c.3298G>T (p.Gly1100Cys) | gnomAD v4 |
| 14 | g.50130501C= | CA2136058794 | SOS2 | c.3337G= (p.Gly1113=) c.3238G= (p.Gly1080=) c.3157G= (p.Gly1053=) c.3298G= (p.Gly1100=) | |
| 14 | g.50130501C>G | CA389640326 | SOS2 | c.3337G>C (p.Gly1113Arg) c.3238G>C (p.Gly1080Arg) c.3157G>C (p.Gly1053Arg) c.3298G>C (p.Gly1100Arg) | |
| 14 | g.50130501C>T | CA389640327 | SOS2 | c.3337G>A (p.Gly1113Ser) c.3238G>A (p.Gly1080Ser) c.3157G>A (p.Gly1053Ser) c.3298G>A (p.Gly1100Ser) | dbSNP |
| 14 | g.50130503_50130504dup | CA2575520263 | SOS2 | c.3336_3337dup (p.Gly1113ValfsTer28) c.3237_3238dup (p.Gly1080ValfsTer28) c.3156_3157dup (p.Gly1053ValfsTer28) c.3297_3298dup (p.Gly1100ValfsTer28) | |
| 14 | g.50130502A>C | CA389640329 | SOS2 | c.3336T>G (p.Cys1112Trp) c.3237T>G (p.Cys1079Trp) c.3156T>G (p.Cys1052Trp) c.3297T>G (p.Cys1099Trp) | |
| 14 | g.50130502A>G | CA486173047 | SOS2 | c.3336T>C (p.Cys1112=) c.3237T>C (p.Cys1079=) c.3156T>C (p.Cys1052=) c.3297T>C (p.Cys1099=) | |
| 14 | g.50130502A>T | CA389640330 | SOS2 | c.3336T>A (p.Cys1112Ter) c.3237T>A (p.Cys1079Ter) c.3156T>A (p.Cys1052Ter) c.3297T>A (p.Cys1099Ter) | |
| 14 | g.50130503C>A | CA389640331 | SOS2 | c.3335G>T (p.Cys1112Phe) c.3236G>T (p.Cys1079Phe) c.3155G>T (p.Cys1052Phe) c.3296G>T (p.Cys1099Phe) | gnomAD v4 |
| 14 | g.50130503C= | CA2136058795 | SOS2 | c.3335G= (p.Cys1112=) c.3236G= (p.Cys1079=) c.3155G= (p.Cys1052=) c.3296G= (p.Cys1099=) | |
| 14 | g.50130503C>G | CA389640332 | SOS2 | c.3335G>C (p.Cys1112Ser) c.3236G>C (p.Cys1079Ser) c.3155G>C (p.Cys1052Ser) c.3296G>C (p.Cys1099Ser) | |
| 14 | g.50130503C>T | CA7176841 | SOS2 | c.3335G>A (p.Cys1112Tyr) c.3236G>A (p.Cys1079Tyr) c.3155G>A (p.Cys1052Tyr) c.3296G>A (p.Cys1099Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50130504A>C | CA389640333 | SOS2 | c.3334T>G (p.Cys1112Gly) c.3235T>G (p.Cys1079Gly) c.3154T>G (p.Cys1052Gly) c.3295T>G (p.Cys1099Gly) | |
| 14 | g.50130504A>G | CA389640334 | SOS2 | c.3334T>C (p.Cys1112Arg) c.3235T>C (p.Cys1079Arg) c.3154T>C (p.Cys1052Arg) c.3295T>C (p.Cys1099Arg) | |
| 14 | g.50130504A>T | CA389640335 | SOS2 | c.3334T>A (p.Cys1112Ser) c.3235T>A (p.Cys1079Ser) c.3154T>A (p.Cys1052Ser) c.3295T>A (p.Cys1099Ser) | |
| 14 | g.50130505G>A | CA486173048 | SOS2 | c.3333C>T (p.Ser1111=) c.3234C>T (p.Ser1078=) c.3153C>T (p.Ser1051=) c.3294C>T (p.Ser1098=) | |
| 14 | g.50130505G>C | CA486173049 | SOS2 | c.3333C>G (p.Ser1111=) c.3234C>G (p.Ser1078=) c.3153C>G (p.Ser1051=) c.3294C>G (p.Ser1098=) | |
| 14 | g.50130505G>T | CA486173050 | SOS2 | c.3333C>A (p.Ser1111=) c.3234C>A (p.Ser1078=) c.3153C>A (p.Ser1051=) c.3294C>A (p.Ser1098=) | |
| 14 | g.50130506G>A | CA389640336 | SOS2 | c.3332C>T (p.Ser1111Phe) c.3233C>T (p.Ser1078Phe) c.3152C>T (p.Ser1051Phe) c.3293C>T (p.Ser1098Phe) | ClinVar gnomAD v4 |
| 14 | g.50130506G>C | CA389640337 | SOS2 | c.3332C>G (p.Ser1111Cys) c.3233C>G (p.Ser1078Cys) c.3152C>G (p.Ser1051Cys) c.3293C>G (p.Ser1098Cys) | |
| 14 | g.50130506G>T | CA389640338 | SOS2 | c.3332C>A (p.Ser1111Tyr) c.3233C>A (p.Ser1078Tyr) c.3152C>A (p.Ser1051Tyr) c.3293C>A (p.Ser1098Tyr) | |
| 14 | g.50130507_50130511dup | CA2624769282 | SOS2 | c.3328_3332dup (p.Cys1112AlafsTer30) c.3229_3233dup (p.Cys1079AlafsTer30) c.3148_3152dup (p.Cys1052AlafsTer30) c.3289_3293dup (p.Cys1099AlafsTer30) | gnomAD v4 |
| 14 | g.50130507A>C | CA389640341 | SOS2 | c.3331T>G (p.Ser1111Ala) c.3232T>G (p.Ser1078Ala) c.3151T>G (p.Ser1051Ala) c.3292T>G (p.Ser1098Ala) | |
| 14 | g.50130507A>G | CA389640340 | SOS2 | c.3331T>C (p.Ser1111Pro) c.3232T>C (p.Ser1078Pro) c.3151T>C (p.Ser1051Pro) c.3292T>C (p.Ser1098Pro) | dbSNP |
| 14 | g.50130507A>T | CA389640339 | SOS2 | c.3331T>A (p.Ser1111Thr) c.3232T>A (p.Ser1078Thr) c.3151T>A (p.Ser1051Thr) c.3292T>A (p.Ser1098Thr) | |
| 14 | g.50130508G>A | CA486173051 | SOS2 | c.3330C>T (p.Ser1110=) c.3231C>T (p.Ser1077=) c.3150C>T (p.Ser1050=) c.3291C>T (p.Ser1097=) | |
| 14 | g.50130508G>C | CA7176842 | SOS2 | c.3330C>G (p.Ser1110Arg) c.3231C>G (p.Ser1077Arg) c.3150C>G (p.Ser1050Arg) c.3291C>G (p.Ser1097Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |