UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.153870213del | CA2579732980 | L1CAM | c.837del (p.Ser280ValfsTer21) c.822del (p.Ser275ValfsTer21) | |
| X | g.153870212G>A | CA415132494 | L1CAM | c.835C>T (p.Pro279Ser) c.820C>T (p.Pro274Ser) | gnomAD v4 |
| X | g.153870212G>C | CA10554481 | L1CAM | c.835C>G (p.Pro279Ala) c.820C>G (p.Pro274Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153870212G= | CA2466507062 | L1CAM | c.835C= (p.Pro279=) c.820C= (p.Pro274=) | |
| X | g.153870212G>T | CA415132496 | L1CAM | c.835C>A (p.Pro279Thr) c.820C>A (p.Pro274Thr) | |
| X | g.153870213G>A | CA519344234 | L1CAM | c.834C>T (p.Arg278=) c.819C>T (p.Arg273=) | |
| X | g.153870213G>C | CA519344235 | L1CAM | c.834C>G (p.Arg278=) c.819C>G (p.Arg273=) | |
| X | g.153870213G>T | CA519344237 | L1CAM | c.834C>A (p.Arg278=) c.819C>A (p.Arg273=) | |
| X | g.153870214C>A | CA415132500 | L1CAM | c.833G>T (p.Arg278Leu) c.818G>T (p.Arg273Leu) | |
| X | g.153870214C= | CA2466507063 | L1CAM | c.833G= (p.Arg278=) c.818G= (p.Arg273=) | |
| X | g.153870214C>G | CA415132503 | L1CAM | c.833G>C (p.Arg278Pro) c.818G>C (p.Arg273Pro) | |
| X | g.153870214C>T | CA10554482 | L1CAM | c.833G>A (p.Arg278His) c.818G>A (p.Arg273His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.153870215G>A | CA415132506 | L1CAM | c.832C>T (p.Arg278Cys) c.817C>T (p.Arg273Cys) | dbSNP |
| X | g.153870215G>C | CA415132509 | L1CAM | c.832C>G (p.Arg278Gly) c.817C>G (p.Arg273Gly) | |
| X | g.153870215G= | CA2466507064 | L1CAM | c.832C= (p.Arg278=) c.817C= (p.Arg273=) | |
| X | g.153870215G>T | CA415132512 | L1CAM | c.832C>A (p.Arg278Ser) c.817C>A (p.Arg273Ser) | |
| X | g.153870216C>A | CA519344239 | L1CAM | c.831G>T (p.Leu277=) c.816G>T (p.Leu272=) | |
| X | g.153870216C>G | CA519344240 | L1CAM | c.831G>C (p.Leu277=) c.816G>C (p.Leu272=) | |
| X | g.153870216C>T | CA519344241 | L1CAM | c.831G>A (p.Leu277=) c.816G>A (p.Leu272=) | |
| X | g.153870217A>C | CA415132515 | L1CAM | c.830T>G (p.Leu277Arg) c.815T>G (p.Leu272Arg) | |
| X | g.153870217A>G | CA415132517 | L1CAM | c.830T>C (p.Leu277Pro) c.815T>C (p.Leu272Pro) | |
| X | g.153870217A>T | CA415132520 | L1CAM | c.830T>A (p.Leu277Gln) c.815T>A (p.Leu272Gln) | |
| X | g.153870218G>A | CA519344243 | L1CAM | c.829C>T (p.Leu277=) c.814C>T (p.Leu272=) | dbSNP gnomAD v4 |
| X | g.153870218G>C | CA415132522 | L1CAM | c.829C>G (p.Leu277Val) c.814C>G (p.Leu272Val) | |
| X | g.153870218G= | CA2466507065 | L1CAM | c.829C= (p.Leu277=) c.814C= (p.Leu272=) | |
| X | g.153870218G>T | CA415132523 | L1CAM | c.829C>A (p.Leu277Met) c.814C>A (p.Leu272Met) | |
| X | g.153870219C>A | CA415132529 | L1CAM | c.828G>T (p.Trp276Cys) c.813G>T (p.Trp271Cys) | gnomAD v4 |
| X | g.153870219C>G | CA415132536 | L1CAM | c.828G>C (p.Trp276Cys) c.813G>C (p.Trp271Cys) | |
| X | g.153870219C>T | CA415132532 | L1CAM | c.828G>A (p.Trp276Ter) c.813G>A (p.Trp271Ter) | |
| X | g.153870220C>A | CA415132538 | L1CAM | c.827G>T (p.Trp276Leu) c.812G>T (p.Trp271Leu) | ClinVar |
| X | g.153870220C>G | CA415132541 | L1CAM | c.827G>C (p.Trp276Ser) c.812G>C (p.Trp271Ser) | |
| X | g.153870220C>T | CA415132554 | L1CAM | c.827G>A (p.Trp276Ter) c.812G>A (p.Trp271Ter) | |
| X | g.153870221A= | CA2466507066 | L1CAM | c.826T= (p.Trp276=) c.811T= (p.Trp271=) | |
| X | g.153870221A>C | CA415132560 | L1CAM | c.826T>G (p.Trp276Gly) c.811T>G (p.Trp271Gly) | |
| X | g.153870221A>G | CA415132565 | L1CAM | c.826T>C (p.Trp276Arg) c.811T>C (p.Trp271Arg) | |
| X | g.153870221A>T | CA415132570 | L1CAM | c.826T>A (p.Trp276Arg) c.811T>A (p.Trp271Arg) | ClinVar dbSNP |
| X | g.153870222T>A | CA415132574 | L1CAM | c.825A>T (p.Lys275Asn) c.810A>T (p.Lys270Asn) | |
| X | g.153870222T>C | CA10554483 | L1CAM | c.825A>G (p.Lys275=) c.810A>G (p.Lys270=) | dbSNP ExAC gnomAD v2 |
| X | g.153870222T>G | CA415132584 | L1CAM | c.825A>C (p.Lys275Asn) c.810A>C (p.Lys270Asn) | |
| X | g.153870222T= | CA2466507067 | L1CAM | c.825A= (p.Lys275=) c.810A= (p.Lys270=) | |
| X | g.153870223T>A | CA415132592 | L1CAM | c.824A>T (p.Lys275Ile) c.809A>T (p.Lys270Ile) | |
| X | g.153870223T>C | CA415132595 | L1CAM | c.824A>G (p.Lys275Arg) c.809A>G (p.Lys270Arg) | |
| X | g.153870223T>G | CA415132588 | L1CAM | c.824A>C (p.Lys275Thr) c.809A>C (p.Lys270Thr) | |
| X | g.153870224T>A | CA415132599 | L1CAM | c.823A>T (p.Lys275Ter) c.808A>T (p.Lys270Ter) | |
| X | g.153870224T>C | CA415132603 | L1CAM | c.823A>G (p.Lys275Glu) c.808A>G (p.Lys270Glu) | |
| X | g.153870224T>G | CA415132606 | L1CAM | c.823A>C (p.Lys275Gln) c.808A>C (p.Lys270Gln) | |
| X | g.153870225G>A | CA519344252 | L1CAM | c.822C>T (p.Ile274=) c.807C>T (p.Ile269=) | |
| X | g.153870225G>C | CA415132609 | L1CAM | c.822C>G (p.Ile274Met) c.807C>G (p.Ile269Met) | |
| X | g.153870225G>T | CA519344253 | L1CAM | c.822C>A (p.Ile274=) c.807C>A (p.Ile269=) | gnomAD v4 |
| X | g.153870226A>C | CA415132617 | L1CAM | c.821T>G (p.Ile274Ser) c.806T>G (p.Ile269Ser) | |
| X | g.153870226A>G | CA415132615 | L1CAM | c.821T>C (p.Ile274Thr) c.806T>C (p.Ile269Thr) | |
| X | g.153870226A>T | CA415132612 | L1CAM | c.821T>A (p.Ile274Asn) c.806T>A (p.Ile269Asn) | |
| X | g.153870227T>A | CA415132621 | L1CAM | c.820A>T (p.Ile274Phe) c.805A>T (p.Ile269Phe) | |
| X | g.153870227T>C | CA415132623 | L1CAM | c.820A>G (p.Ile274Val) c.805A>G (p.Ile269Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153870227T>G | CA415132627 | L1CAM | c.820A>C (p.Ile274Leu) c.805A>C (p.Ile269Leu) | |
| X | g.153870227T= | CA2466507068 | L1CAM | c.820A= (p.Ile274=) c.805A= (p.Ile269=) | |
| X | g.153870230_153870232del | CA2695236874 | L1CAM | c.818_820del (p.Thr273del) c.803_805del (p.Thr268del) | |
| X | g.153870228G>A | CA519344258 | L1CAM | c.819C>T (p.Thr273=) c.804C>T (p.Thr268=) | |
| X | g.153870228G>C | CA519344257 | L1CAM | c.819C>G (p.Thr273=) c.804C>G (p.Thr268=) | |
| X | g.153870228G>T | CA519344256 | L1CAM | c.819C>A (p.Thr273=) c.804C>A (p.Thr268=) | |
| X | g.153870229G>A | CA415132630 | L1CAM | c.818C>T (p.Thr273Ile) c.803C>T (p.Thr268Ile) | |
| X | g.153870229G>C | CA415132631 | L1CAM | c.818C>G (p.Thr273Ser) c.803C>G (p.Thr268Ser) | |
| X | g.153870229G>T | CA415132634 | L1CAM | c.818C>A (p.Thr273Asn) c.803C>A (p.Thr268Asn) | |
| X | g.153870230T>A | CA415132636 | L1CAM | c.817A>T (p.Thr273Ser) c.802A>T (p.Thr268Ser) | |
| X | g.153870230T>C | CA415132643 | L1CAM | c.817A>G (p.Thr273Ala) c.802A>G (p.Thr268Ala) | gnomAD v4 |
| X | g.153870230T>G | CA415132639 | L1CAM | c.817A>C (p.Thr273Pro) c.802A>C (p.Thr268Pro) | |
| X | g.153870231G>A | CA519344260 | L1CAM | c.816C>T (p.Pro272=) c.801C>T (p.Pro267=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.153870231G>C | CA519344261 | L1CAM | c.816C>G (p.Pro272=) c.801C>G (p.Pro267=) | |
| X | g.153870231G= | CA2466507069 | L1CAM | c.816C= (p.Pro272=) c.801C= (p.Pro267=) | |
| X | g.153870231G>T | CA519344262 | L1CAM | c.816C>A (p.Pro272=) c.801C>A (p.Pro267=) | |
| X | g.153870232G>A | CA415132651 | L1CAM | c.815C>T (p.Pro272Leu) c.800C>T (p.Pro267Leu) | |
| X | g.153870232G>C | CA415132654 | L1CAM | c.815C>G (p.Pro272Arg) c.800C>G (p.Pro267Arg) | |
| X | g.153870232G>T | CA415132658 | L1CAM | c.815C>A (p.Pro272His) c.800C>A (p.Pro267His) | COSMIC |
| X | g.153870233G>A | CA415132661 | L1CAM | c.814C>T (p.Pro272Ser) c.799C>T (p.Pro267Ser) | |
| X | g.153870233G>C | CA415132662 | L1CAM | c.814C>G (p.Pro272Ala) c.799C>G (p.Pro267Ala) | |
| X | g.153870233G>T | CA415132664 | L1CAM | c.814C>A (p.Pro272Thr) c.799C>A (p.Pro267Thr) | |
| X | g.153870234C>A | CA519344264 | L1CAM | c.813G>T (p.Thr271=) c.798G>T (p.Thr266=) | COSMIC |
| X | g.153870234C= | CA2466507070 | L1CAM | c.813G= (p.Thr271=) c.798G= (p.Thr266=) | |
| X | g.153870234C>G | CA519344265 | L1CAM | c.813G>C (p.Thr271=) c.798G>C (p.Thr266=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.153870234C>T | CA10554484 | L1CAM | c.813G>A (p.Thr271=) c.798G>A (p.Thr266=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.153870235G>A | CA415132673 | L1CAM | c.812C>T (p.Thr271Met) c.797C>T (p.Thr266Met) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.153870235G>C | CA415132676 | L1CAM | c.812C>G (p.Thr271Arg) c.797C>G (p.Thr266Arg) | |
| X | g.153870235G= | CA2466507071 | L1CAM | c.812C= (p.Thr271=) c.797C= (p.Thr266=) | |
| X | g.153870235G>T | CA415132679 | L1CAM | c.812C>A (p.Thr271Lys) c.797C>A (p.Thr266Lys) | |
| X | g.153870236T>A | CA415132689 | L1CAM | c.811A>T (p.Thr271Ser) c.796A>T (p.Thr266Ser) | |
| X | g.153870236T>C | CA415132688 | L1CAM | c.811A>G (p.Thr271Ala) c.796A>G (p.Thr266Ala) | |
| X | g.153870236T>G | CA415132685 | L1CAM | c.811A>C (p.Thr271Pro) c.796A>C (p.Thr266Pro) | |
| X | g.153870237G>A | CA519344268 | L1CAM | c.810C>T (p.Pro270=) c.795C>T (p.Pro265=) | |
| X | g.153870237G>C | CA519344269 | L1CAM | c.810C>G (p.Pro270=) c.795C>G (p.Pro265=) | |
| X | g.153870237G>T | CA519344270 | L1CAM | c.810C>A (p.Pro270=) c.795C>A (p.Pro265=) | |
| X | g.153870238G>A | CA415132690 | L1CAM | c.809C>T (p.Pro270Leu) c.794C>T (p.Pro265Leu) | ClinVar dbSNP COSMIC |
| X | g.153870238G>C | CA415132692 | L1CAM | c.809C>G (p.Pro270Arg) c.794C>G (p.Pro265Arg) | |
| X | g.153870238G>T | CA415132691 | L1CAM | c.809C>A (p.Pro270His) c.794C>A (p.Pro265His) | |
| X | g.153870239G>A | CA415132693 | L1CAM | c.808C>T (p.Pro270Ser) c.793C>T (p.Pro265Ser) | |
| X | g.153870239G>C | CA415132695 | L1CAM | c.808C>G (p.Pro270Ala) c.793C>G (p.Pro265Ala) | |
| X | g.153870239G>T | CA415132697 | L1CAM | c.808C>A (p.Pro270Thr) c.793C>A (p.Pro265Thr) | gnomAD v4 |
| X | g.153870240A>C | CA415132701 | L1CAM | c.807T>G (p.Phe269Leu) c.792T>G (p.Phe264Leu) | |
| X | g.153870240A>G | CA519344274 | L1CAM | c.807T>C (p.Phe269=) c.792T>C (p.Phe264=) | |
| X | g.153870240A>T | CA415132704 | L1CAM | c.807T>A (p.Phe269Leu) c.792T>A (p.Phe264Leu) | |
| X | g.153870241C>A | CA415132706 | L1CAM | c.807-1G>T (n.807-1G>T) c.792-1G>T (n.792-1G>T) | |
| X | g.153870241C>G | CA415132709 | L1CAM | c.807-1G>C (n.807-1G>C) c.792-1G>C (n.792-1G>C) | |
| X | g.153870241C>T | CA415132718 | L1CAM | c.807-1G>A (n.807-1G>A) c.792-1G>A (n.792-1G>A) | |
| X | g.153870242T>A | CA415132723 | L1CAM | c.807-2A>T (n.807-2A>T) c.792-2A>T (n.792-2A>T) | |
| X | g.153870242T>C | CA415132726 | L1CAM | c.807-2A>G (n.807-2A>G) c.792-2A>G (n.792-2A>G) | |
| X | g.153870242T>G | CA415132729 | L1CAM | c.807-2A>C (n.807-2A>C) c.792-2A>C (n.792-2A>C) | |
| X | g.153870243G>A | CA2695068578 | L1CAM | c.807-3C>T (n.807-3C>T) c.792-3C>T (n.792-3C>T) | gnomAD v4 |
| X | g.153870243G>T | CA2695068579 | L1CAM | c.807-3C>A (n.807-3C>A) c.792-3C>A (n.792-3C>A) | gnomAD v4 |
| X | g.153870244C>A | CA2580101886 | L1CAM | c.807-4G>T (n.807-4G>T) c.792-4G>T (n.792-4G>T) | ClinVar |
| X | g.153870245C= | CA2466507072 | L1CAM | c.807-5G= (n.807-5G=) c.792-5G= (n.792-5G=) | |
| X | g.153870245C>T | CA10554485 | L1CAM | c.807-5G>A (n.807-5G>A) c.792-5G>A (n.792-5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153870246C= | CA2466507073 | L1CAM | c.807-6G= (n.807-6G=) c.792-6G= (n.792-6G=) | |
| X | g.153870246C>T | CA10588751 | L1CAM | c.807-6G>A (n.807-6G>A) c.792-6G>A (n.792-6G>A) | ClinVar dbSNP gnomAD v4 |
| X | g.153870247G>A | CA10554486 | L1CAM | c.807-7C>T (n.807-7C>T) c.792-7C>T (n.792-7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153870247G>C | CA645288992 | L1CAM | c.807-7C>G (n.807-7C>G) c.792-7C>G (n.792-7C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153870247G= | CA2466507074 | L1CAM | c.807-7C= (n.807-7C=) c.792-7C= (n.792-7C=) | |
| X | g.153870252G>A | CA10554487 | L1CAM | c.807-12C>T (n.807-12C>T) c.792-12C>T (n.792-12C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153870252G= | CA2466507075 | L1CAM | c.807-12C= (n.807-12C=) c.792-12C= (n.792-12C=) | |
| X | g.153870253C>A | CA2466507077 | L1CAM | c.807-13G>T (n.807-13G>T) c.792-13G>T (n.792-13G>T) | dbSNP |
| X | g.153870253C= | CA2466507076 | L1CAM | c.807-13G= (n.807-13G=) c.792-13G= (n.792-13G=) | |
| X | g.153870254A= | CA2466507078 | L1CAM | c.807-14T= (n.807-14T=) c.792-14T= (n.792-14T=) | |
| X | g.153870254A>C | CA645288993 | L1CAM | c.807-14T>G (n.807-14T>G) c.792-14T>G (n.792-14T>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153870256A>C | CA2573159352 | L1CAM | c.807-16T>G (n.807-16T>G) c.792-16T>G (n.792-16T>G) | ClinVar dbSNP |
| X | g.153870257G>A | CA645288994 | L1CAM | c.807-17C>T (n.807-17C>T) c.792-17C>T (n.792-17C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153870257G= | CA2466507079 | L1CAM | c.807-17C= (n.807-17C=) c.792-17C= (n.792-17C=) | |
| X | g.153870259G>A | CA2695068580 | L1CAM | c.807-19C>T (n.807-19C>T) c.792-19C>T (n.792-19C>T) | gnomAD v4 |
| X | g.153870259G>C | CA10554488 | L1CAM | c.807-19C>G (n.807-19C>G) c.792-19C>G (n.792-19C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153870259G= | CA2466507080 | L1CAM | c.807-19C= (n.807-19C=) c.792-19C= (n.792-19C=) | |
| X | g.153870259G>T | CA2695068581 | L1CAM | c.807-19C>A (n.807-19C>A) c.792-19C>A (n.792-19C>A) | gnomAD v4 |
| X | g.153870263_153870272del | CA2695068582 | L1CAM | c.807-28_807-19del (n.807-28_807-19del) c.792-28_792-19del (n.792-28_792-19del) | gnomAD v4 |
| X | g.153870262G>A | CA645288995 | L1CAM | c.807-22C>T (n.807-22C>T) c.792-22C>T (n.792-22C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153870262G>C | CA2695068583 | L1CAM | c.807-22C>G (n.807-22C>G) c.792-22C>G (n.792-22C>G) | gnomAD v4 |
| X | g.153870262G= | CA2466507081 | L1CAM | c.807-22C= (n.807-22C=) c.792-22C= (n.792-22C=) | |
| X | g.153870262G>T | CA2695068584 | L1CAM | c.807-22C>A (n.807-22C>A) c.792-22C>A (n.792-22C>A) | gnomAD v4 |
| X | g.153870264G>A | CA2695068585 | L1CAM | c.807-24C>T (n.807-24C>T) c.792-24C>T (n.792-24C>T) | gnomAD v4 |
| X | g.153870264G>C | CA10554489 | L1CAM | c.807-24C>G (n.807-24C>G) c.792-24C>G (n.792-24C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153870264G= | CA2466507082 | L1CAM | c.807-24C= (n.807-24C=) c.792-24C= (n.792-24C=) | |
| X | g.153870264G>T | CA2695068586 | L1CAM | c.807-24C>A (n.807-24C>A) c.792-24C>A (n.792-24C>A) | gnomAD v4 |
| X | g.153870266G>A | CA2579732981 | L1CAM | c.807-26C>T (n.807-26C>T) c.792-26C>T (n.792-26C>T) | gnomAD v4 |
| X | g.153870266G>T | CA2741806116 | L1CAM | c.807-26C>A (n.807-26C>A) c.792-26C>A (n.792-26C>A) | |
| X | g.153870267C>A | CA645288996 | L1CAM | c.807-27G>T (n.807-27G>T) c.792-27G>T (n.792-27G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153870267C= | CA2466507083 | L1CAM | c.807-27G= (n.807-27G=) c.792-27G= (n.792-27G=) | |
| X | g.153870268A= | CA2466507084 | L1CAM | c.807-28T= (n.807-28T=) c.792-28T= (n.792-28T=) | |
| X | g.153870268A>G | CA873291079 | L1CAM | c.807-28T>C (n.807-28T>C) c.792-28T>C (n.792-28T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153870269G>T | CA2695068587 | L1CAM | c.807-29C>A (n.807-29C>A) c.792-29C>A (n.792-29C>A) | gnomAD v4 |
| X | g.153870272G>A | CA2695068588 | L1CAM | c.807-32C>T (n.807-32C>T) c.792-32C>T (n.792-32C>T) | gnomAD v4 |
| X | g.153870272G>T | CA2695068589 | L1CAM | c.807-32C>A (n.807-32C>A) c.792-32C>A (n.792-32C>A) | gnomAD v4 |
| X | g.153870273G>A | CA2695068591 | L1CAM | c.807-33C>T (n.807-33C>T) c.792-33C>T (n.792-33C>T) | gnomAD v4 |
| X | g.153870273G>C | CA2466507086 | L1CAM | c.807-33C>G (n.807-33C>G) c.792-33C>G (n.792-33C>G) | dbSNP |
| X | g.153870273G= | CA2466507085 | L1CAM | c.807-33C= (n.807-33C=) c.792-33C= (n.792-33C=) | |
| X | g.153870273G>T | CA2695068590 | L1CAM | c.807-33C>A (n.807-33C>A) c.792-33C>A (n.792-33C>A) | gnomAD v4 |
| X | g.153870274G>A | CA10554490 | L1CAM | c.807-34C>T (n.807-34C>T) c.792-34C>T (n.792-34C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153870274G= | CA2466507087 | L1CAM | c.807-34C= (n.807-34C=) c.792-34C= (n.792-34C=) | |
| X | g.153870276G>A | CA2695068592 | L1CAM | c.807-36C>T (n.807-36C>T) c.792-36C>T (n.792-36C>T) | gnomAD v4 |
| X | g.153870276G>C | CA337263459 | L1CAM | c.807-36C>G (n.807-36C>G) c.792-36C>G (n.792-36C>G) | dbSNP gnomAD v4 |
| X | g.153870276G= | CA2466507088 | L1CAM | c.807-36C= (n.807-36C=) c.792-36C= (n.792-36C=) | |
| X | g.153870276G>T | CA2695068593 | L1CAM | c.807-36C>A (n.807-36C>A) c.792-36C>A (n.792-36C>A) | gnomAD v4 |
| X | g.153870278A= | CA2466507089 | L1CAM | c.807-38T= (n.807-38T=) c.792-38T= (n.792-38T=) | |
| X | g.153870278_153870279insCTTCTGGTCTT | CA920450209 | L1CAM | c.807-39_807-38insAAGACCAGAAG (n.807-39_807-38insAAGACCAGAAG) c.792-39_792-38insAAGACCAGAAG (n.792-39_792-38insAAGACCAGAAG) | dbSNP |
| X | g.153870280G>A | CA2579732982 | L1CAM | c.807-40C>T (n.807-40C>T) c.792-40C>T (n.792-40C>T) | |
| X | g.153870280G>T | CA2695068594 | L1CAM | c.807-40C>A (n.807-40C>A) c.792-40C>A (n.792-40C>A) | gnomAD v4 |
| X | g.153870282A>G | CA2695068595 | L1CAM | c.807-42T>C (n.807-42T>C) c.792-42T>C (n.792-42T>C) | gnomAD v4 |
| X | g.153870283C>G | CA2579732983 | L1CAM | c.807-43G>C (n.807-43G>C) c.792-43G>C (n.792-43G>C) | gnomAD v4 |
| X | g.153870284A= | CA2466507090 | L1CAM | c.807-44T= (n.807-44T=) c.792-44T= (n.792-44T=) | |
| X | g.153870284A>T | CA10554491 | L1CAM | c.807-44T>A (n.807-44T>A) c.792-44T>A (n.792-44T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153870287G>T | CA2695068596 | L1CAM | c.807-47C>A (n.807-47C>A) c.792-47C>A (n.792-47C>A) | gnomAD v4 |
| X | g.153870295C>A | CA2695068597 | L1CAM | c.807-55G>T (n.807-55G>T) c.792-55G>T (n.792-55G>T) | gnomAD v4 |
| X | g.153870295C= | CA2466507091 | L1CAM | c.807-55G= (n.807-55G=) c.792-55G= (n.792-55G=) | |
| X | g.153870295C>T | CA2466507092 | L1CAM | c.807-55G>A (n.807-55G>A) c.792-55G>A (n.792-55G>A) | dbSNP gnomAD v4 |
| X | g.153870296C>A | CA2695068598 | L1CAM | c.807-56G>T (n.807-56G>T) c.792-56G>T (n.792-56G>T) | gnomAD v4 |
| X | g.153870296C= | CA2466507093 | L1CAM | c.807-56G= (n.807-56G=) c.792-56G= (n.792-56G=) | |
| X | g.153870296C>G | CA2602676604 | L1CAM | c.807-56G>C (n.807-56G>C) c.792-56G>C (n.792-56G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153870296C>T | CA337263462 | L1CAM | c.807-56G>A (n.807-56G>A) c.792-56G>A (n.792-56G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153870297C>G | CA2695068600 | L1CAM | c.807-57G>C (n.807-57G>C) c.792-57G>C (n.792-57G>C) | gnomAD v4 |
| X | g.153870297C>T | CA2695068599 | L1CAM | c.807-57G>A (n.807-57G>A) c.792-57G>A (n.792-57G>A) | gnomAD v4 |
| X | g.153870298C>T | CA2579732984 | L1CAM | c.807-58G>A (n.807-58G>A) c.792-58G>A (n.792-58G>A) | |
| X | g.153870299A= | CA2466507094 | L1CAM | c.807-59T= (n.807-59T=) c.792-59T= (n.792-59T=) | |
| X | g.153870299A>G | CA2824280694 | L1CAM | c.807-59T>C (n.807-59T>C) c.792-59T>C (n.792-59T>C) | |
| X | g.153870300G>T | CA2579732985 | L1CAM | c.807-60C>A (n.807-60C>A) c.792-60C>A (n.792-60C>A) | |
| X | g.153870300dup | CA645152257 | L1CAM | c.807-60dup (n.807-60dup) c.792-60dup (n.792-60dup) | dbSNP gnomAD v2 |
| X | g.153870301C= | CA2466507095 | L1CAM | c.807-61G= (n.807-61G=) c.792-61G= (n.792-61G=) | |
| X | g.153870301C>G | CA337263464 | L1CAM | c.807-61G>C (n.807-61G>C) c.792-61G>C (n.792-61G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153870301C>T | CA2466507096 | L1CAM | c.807-61G>A (n.807-61G>A) c.792-61G>A (n.792-61G>A) | dbSNP gnomAD v4 |
| X | g.153870305del | CA2579732986 | L1CAM | c.807-61del (n.807-61del) c.792-61del (n.792-61del) | |
| X | g.153870302C>A | CA2695068601 | L1CAM | c.807-62G>T (n.807-62G>T) c.792-62G>T (n.792-62G>T) | gnomAD v4 |
| X | g.153870303C= | CA2466507097 | L1CAM | c.807-63G= (n.807-63G=) c.792-63G= (n.792-63G=) | |
| X | g.153870303C>T | CA873291085 | L1CAM | c.807-63G>A (n.807-63G>A) c.792-63G>A (n.792-63G>A) | dbSNP gnomAD v4 |
| X | g.153870304C>G | CA2695068602 | L1CAM | c.807-64G>C (n.807-64G>C) c.792-64G>C (n.792-64G>C) | gnomAD v4 |
| X | g.153870305C= | CA2466507098 | L1CAM | c.807-65G= (n.807-65G=) c.792-65G= (n.792-65G=) | |
| X | g.153870305C>G | CA2695068603 | L1CAM | c.807-65G>C (n.807-65G>C) c.792-65G>C (n.792-65G>C) | gnomAD v4 |
| X | g.153870305C>T | CA873291086 | L1CAM | c.807-65G>A (n.807-65G>A) c.792-65G>A (n.792-65G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153870306del | CA2579732987 | L1CAM | c.807-66del (n.807-66del) c.792-66del (n.792-66del) | gnomAD v4 |
| X | g.153870307A>G | CA2695068605 | L1CAM | c.807-67T>C (n.807-67T>C) c.792-67T>C (n.792-67T>C) | gnomAD v4 |
| X | g.153870307dup | CA2695068604 | L1CAM | c.807-67dup (n.807-67dup) c.792-67dup (n.792-67dup) | gnomAD v4 |
| X | g.153870310C>A | CA873291089 | L1CAM | c.807-70G>T (n.807-70G>T) c.792-70G>T (n.792-70G>T) | dbSNP gnomAD v4 |
| X | g.153870310C= | CA2466507099 | L1CAM | c.807-70G= (n.807-70G=) c.792-70G= (n.792-70G=) | |
| X | g.153870310C>G | CA2466507100 | L1CAM | c.807-70G>C (n.807-70G>C) c.792-70G>C (n.792-70G>C) | dbSNP |
| X | g.153870310C>T | CA337263466 | L1CAM | c.807-70G>A (n.807-70G>A) c.792-70G>A (n.792-70G>A) | dbSNP |
| X | g.153870312C= | CA2466507101 | L1CAM | c.807-72G= (n.807-72G=) c.792-72G= (n.792-72G=) | |
| X | g.153870312C>G | CA873291090 | L1CAM | c.807-72G>C (n.807-72G>C) c.792-72G>C (n.792-72G>C) | dbSNP gnomAD v4 |
| X | g.153870312C>T | CA2695068606 | L1CAM | c.807-72G>A (n.807-72G>A) c.792-72G>A (n.792-72G>A) | gnomAD v4 |