Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47401439_47411294del | CA331194 | ClinVar | ||
2 | g.47403280_47410368delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT | CA658760387 | MSH2 | c.89_641delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT c.-30-80_443delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT n.161_713delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT n.151_703delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT | |
2 | g.47408402_47410373del | CA2581463448 | MSH2 | c.213_645+1del c.15_447+1del n.285_717+1del n.275_707+1del | |
2 | g.47409413_47411458del | CA331584 | MSH2 | c.367-681_646-956del c.169-681_448-956del n.439-681_718-956del n.429-681_708-956del | ClinVar |
2 | g.47409567_47410219delinsTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG | CA2495830775 | MSH2 | c.367-527_492delinsTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG c.169-527_294delinsTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG n.439-527_564delinsTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG n.429-527_554delinsTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG | |
2 | g.47409569_47410220del | CA658795727 | MSH2 | c.367-525_493del c.169-525_295del n.439-525_565del n.429-525_555del | ClinVar dbSNP |
2 | g.47409628_47411030del | CA331583 | MSH2 | c.367-466_645+658del c.169-466_447+658del n.439-466_717+658del n.429-466_707+658del | ClinVar |
2 | g.47409642_47411692del | CA331582 | MSH2 | c.367-452_646-722del c.169-452_448-722del n.439-452_718-722del n.429-452_708-722del | ClinVar |
2 | g.47409723_47411901del | CA331581 | MSH2 | c.367-371_646-513del c.169-371_448-513del n.439-371_718-513del n.429-371_708-513del | ClinVar |
2 | g.47409971_47409975delinsCAAAA | CA2495831042 | MSH2 | c.367-123_367-119delinsCAAAA (n.367-123_367-119delinsCAAAA) c.169-123_169-119delinsCAAAA (n.169-123_169-119delinsCAAAA) n.439-123_439-119delinsCAAAA n.429-123_429-119delinsCAAAA | |
2 | g.47409979_47409980insAAAAAAAAA | CA916528779 | MSH2 | c.367-115_367-114insAAAAAAAAA (n.367-115_367-114insAAAAAAAAA) c.169-115_169-114insAAAAAAAAA (n.169-115_169-114insAAAAAAAAA) n.439-115_439-114insAAAAAAAAA n.429-115_429-114insAAAAAAAAA | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47409979dup | CA46677306 | MSH2 | c.367-115dup (n.367-115dup) c.169-115dup (n.169-115dup) n.439-115dup n.429-115dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47409978_47409979dup | CA2749801226 | MSH2 | c.367-116_367-115dup (n.367-116_367-115dup) c.169-116_169-115dup (n.169-116_169-115dup) n.439-116_439-115dup n.429-116_429-115dup | |
2 | g.47409979del | CA647033919 | MSH2 | c.367-115del (n.367-115del) c.169-115del (n.169-115del) n.439-115del n.429-115del | gnomAD v3 gnomAD v4 COSMIC |
2 | g.47409976_47409979del | CA2495831045 | MSH2 | c.367-118_367-115del (n.367-118_367-115del) c.169-118_169-115del (n.169-118_169-115del) n.439-118_439-115del n.429-118_429-115del | dbSNP gnomAD v4 |
2 | g.47409975A>G | CA2658946011 | MSH2 | c.367-119A>G (n.367-119A>G) c.169-119A>G (n.169-119A>G) n.439-119A>G n.429-119A>G | gnomAD v4 |
2 | g.47409976A>G | CA2658946012 | MSH2 | c.367-118A>G (n.367-118A>G) c.169-118A>G (n.169-118A>G) n.439-118A>G n.429-118A>G | gnomAD v4 |
2 | g.47409977_47409980delinsAAAG | CA2495831051 | MSH2 | c.367-117_367-114delinsAAAG (n.367-117_367-114delinsAAAG) c.169-117_169-114delinsAAAG (n.169-117_169-114delinsAAAG) n.439-117_439-114delinsAAAG n.429-117_429-114delinsAAAG | |
2 | g.47409978A= | CA2495831053 | MSH2 | c.367-116A= (n.367-116A=) c.169-116A= (n.169-116A=) n.439-116A= n.429-116A= | |
2 | g.47409978A>G | CA2495831052 | MSH2 | c.367-116A>G (n.367-116A>G) c.169-116A>G (n.169-116A>G) n.439-116A>G n.429-116A>G | dbSNP gnomAD v4 |
2 | g.47409979_47409981del | CA1030257981 | MSH2 | c.367-115_367-113del (n.367-115_367-113del) c.169-115_169-113del (n.169-115_169-113del) n.439-115_439-113del n.429-115_429-113del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47409979A>G | CA2658946013 | MSH2 | c.367-115A>G (n.367-115A>G) c.169-115A>G (n.169-115A>G) n.439-115A>G n.429-115A>G | gnomAD v4 |
2 | g.47409979A>T | CA2658946014 | MSH2 | c.367-115A>T (n.367-115A>T) c.169-115A>T (n.169-115A>T) n.439-115A>T n.429-115A>T | gnomAD v4 |
2 | g.47409982_47409983del | CA2749801227 | MSH2 | c.367-112_367-111del (n.367-112_367-111del) c.169-112_169-111del (n.169-112_169-111del) n.439-112_439-111del n.429-112_429-111del | |
2 | g.47409980G>A | CA2658946015 | MSH2 | c.367-114G>A (n.367-114G>A) c.169-114G>A (n.169-114G>A) n.439-114G>A n.429-114G>A | gnomAD v4 |
2 | g.47409980G>T | CA2658946016 | MSH2 | c.367-114G>T (n.367-114G>T) c.169-114G>T (n.169-114G>T) n.439-114G>T n.429-114G>T | gnomAD v4 |
2 | g.47409981A>T | CA2658946017 | MSH2 | c.367-113A>T (n.367-113A>T) c.169-113A>T (n.169-113A>T) n.439-113A>T n.429-113A>T | gnomAD v4 |
2 | g.47409982G= | CA2495831054 | MSH2 | c.367-112G= (n.367-112G=) c.169-112G= (n.169-112G=) n.439-112G= n.429-112G= | |
2 | g.47409982G>T | CA1030257987 | MSH2 | c.367-112G>T (n.367-112G>T) c.169-112G>T (n.169-112G>T) n.439-112G>T n.429-112G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47409983A>G | CA2658946018 | MSH2 | c.367-111A>G (n.367-111A>G) c.169-111A>G (n.169-111A>G) n.439-111A>G n.429-111A>G | gnomAD v4 |
2 | g.47409984A>G | CA2658946019 | MSH2 | c.367-110A>G (n.367-110A>G) c.169-110A>G (n.169-110A>G) n.439-110A>G n.429-110A>G | gnomAD v4 |
2 | g.47409985A>C | CA2658946020 | MSH2 | c.367-109A>C (n.367-109A>C) c.169-109A>C (n.169-109A>C) n.439-109A>C n.429-109A>C | gnomAD v4 |
2 | g.47409986A= | CA2495831055 | MSH2 | c.367-108A= (n.367-108A=) c.169-108A= (n.169-108A=) n.439-108A= n.429-108A= | |
2 | g.47409986A>C | CA021062 | MSH2 | c.367-108A>C (n.367-108A>C) c.169-108A>C (n.169-108A>C) n.439-108A>C n.429-108A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47409986A>G | CA46677326 | MSH2 | c.367-108A>G (n.367-108A>G) c.169-108A>G (n.169-108A>G) n.439-108A>G n.429-108A>G | dbSNP gnomAD v4 |
2 | g.47409987C>A | CA2658946021 | MSH2 | c.367-107C>A (n.367-107C>A) c.169-107C>A (n.169-107C>A) n.439-107C>A n.429-107C>A | gnomAD v4 |
2 | g.47409987C= | CA2495831056 | MSH2 | c.367-107C= (n.367-107C=) c.169-107C= (n.169-107C=) n.439-107C= n.429-107C= | |
2 | g.47409987C>G | CA769450443 | MSH2 | c.367-107C>G (n.367-107C>G) c.169-107C>G (n.169-107C>G) n.439-107C>G n.429-107C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47409987C>T | CA2658946022 | MSH2 | c.367-107C>T (n.367-107C>T) c.169-107C>T (n.169-107C>T) n.439-107C>T n.429-107C>T | gnomAD v4 |
2 | g.47409988A= | CA2495831057 | MSH2 | c.367-106A= (n.367-106A=) c.169-106A= (n.169-106A=) n.439-106A= n.429-106A= | |
2 | g.47409988A>G | CA46677339 | MSH2 | c.367-106A>G (n.367-106A>G) c.169-106A>G (n.169-106A>G) n.439-106A>G n.429-106A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47409989T>G | CA2658946023 | MSH2 | c.367-105T>G (n.367-105T>G) c.169-105T>G (n.169-105T>G) n.439-105T>G n.429-105T>G | gnomAD v4 |
2 | g.47409992dup | CA46677342 | MSH2 | c.367-102dup (n.367-102dup) c.169-102dup (n.169-102dup) n.439-102dup n.429-102dup | dbSNP |
2 | g.47409990T>G | CA2658946024 | MSH2 | c.367-104T>G (n.367-104T>G) c.169-104T>G (n.169-104T>G) n.439-104T>G n.429-104T>G | gnomAD v4 |
2 | g.47409993A= | CA2495831058 | MSH2 | c.367-101A= (n.367-101A=) c.169-101A= (n.169-101A=) n.439-101A= n.429-101A= | |
2 | g.47409993A>G | CA46677343 | MSH2 | c.367-101A>G (n.367-101A>G) c.169-101A>G (n.169-101A>G) n.439-101A>G n.429-101A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47409996A>G | CA2658946025 | MSH2 | c.367-98A>G (n.367-98A>G) c.169-98A>G (n.169-98A>G) n.439-98A>G n.429-98A>G | gnomAD v4 |
2 | g.47409997A= | CA2495831059 | MSH2 | c.367-97A= (n.367-97A=) c.169-97A= (n.169-97A=) n.439-97A= n.429-97A= | |
2 | g.47409997A>G | CA2495831060 | MSH2 | c.367-97A>G (n.367-97A>G) c.169-97A>G (n.169-97A>G) n.439-97A>G n.429-97A>G | dbSNP |
2 | g.47409998T>C | CA2658946026 | MSH2 | c.367-96T>C (n.367-96T>C) c.169-96T>C (n.169-96T>C) n.439-96T>C n.429-96T>C | gnomAD v4 |