Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.50497280C>A | CA769780642 | NRXN1 | c.2879+53G>T (n.2879+53G>T) n.855+53G>T n.1778+53G>T n.46+53G>T c.2033+53G>T (n.2033+53G>T) c.2024+53G>T (n.2024+53G>T) c.2999+53G>T (n.2999+53G>T) c.2843+53G>T (n.2843+53G>T) c.2069+53G>T (n.2069+53G>T) c.2855+53G>T (n.2855+53G>T) c.2900+53G>T (n.2900+53G>T) c.2897+53G>T (n.2897+53G>T) c.2888+53G>T (n.2888+53G>T) c.2882+53G>T (n.2882+53G>T) c.2873+53G>T (n.2873+53G>T) c.2870+53G>T (n.2870+53G>T) c.2840+53G>T (n.2840+53G>T) c.2810+53G>T (n.2810+53G>T) c.2105+53G>T (n.2105+53G>T) c.2060+53G>T (n.2060+53G>T) c.1940+53G>T (n.1940+53G>T) c.2813+53G>T (n.2813+53G>T) c.2852+53G>T (n.2852+53G>T) c.2768+53G>T (n.2768+53G>T) c.2798+53G>T (n.2798+53G>T) c.2876+53G>T (n.2876+53G>T) c.2867+53G>T (n.2867+53G>T) c.2828+53G>T (n.2828+53G>T) c.2837+53G>T (n.2837+53G>T) c.2861+53G>T (n.2861+53G>T) | dbSNP gnomAD v4 |
2 | g.50497280C= | CA1249594689 | NRXN1 | c.2879+53G= (n.2879+53G=) n.855+53G= n.1778+53G= n.46+53G= c.2033+53G= (n.2033+53G=) c.2024+53G= (n.2024+53G=) c.2999+53G= (n.2999+53G=) c.2843+53G= (n.2843+53G=) c.2069+53G= (n.2069+53G=) c.2855+53G= (n.2855+53G=) c.2900+53G= (n.2900+53G=) c.2897+53G= (n.2897+53G=) c.2888+53G= (n.2888+53G=) c.2882+53G= (n.2882+53G=) c.2873+53G= (n.2873+53G=) c.2870+53G= (n.2870+53G=) c.2840+53G= (n.2840+53G=) c.2810+53G= (n.2810+53G=) c.2105+53G= (n.2105+53G=) c.2060+53G= (n.2060+53G=) c.1940+53G= (n.1940+53G=) c.2813+53G= (n.2813+53G=) c.2852+53G= (n.2852+53G=) c.2768+53G= (n.2768+53G=) c.2798+53G= (n.2798+53G=) c.2876+53G= (n.2876+53G=) c.2867+53G= (n.2867+53G=) c.2828+53G= (n.2828+53G=) c.2837+53G= (n.2837+53G=) c.2861+53G= (n.2861+53G=) | |
2 | g.50497280C>T | CA47360329 | NRXN1 | c.2879+53G>A (n.2879+53G>A) n.855+53G>A n.1778+53G>A n.46+53G>A c.2033+53G>A (n.2033+53G>A) c.2024+53G>A (n.2024+53G>A) c.2999+53G>A (n.2999+53G>A) c.2843+53G>A (n.2843+53G>A) c.2069+53G>A (n.2069+53G>A) c.2855+53G>A (n.2855+53G>A) c.2900+53G>A (n.2900+53G>A) c.2897+53G>A (n.2897+53G>A) c.2888+53G>A (n.2888+53G>A) c.2882+53G>A (n.2882+53G>A) c.2873+53G>A (n.2873+53G>A) c.2870+53G>A (n.2870+53G>A) c.2840+53G>A (n.2840+53G>A) c.2810+53G>A (n.2810+53G>A) c.2105+53G>A (n.2105+53G>A) c.2060+53G>A (n.2060+53G>A) c.1940+53G>A (n.1940+53G>A) c.2813+53G>A (n.2813+53G>A) c.2852+53G>A (n.2852+53G>A) c.2768+53G>A (n.2768+53G>A) c.2798+53G>A (n.2798+53G>A) c.2876+53G>A (n.2876+53G>A) c.2867+53G>A (n.2867+53G>A) c.2828+53G>A (n.2828+53G>A) c.2837+53G>A (n.2837+53G>A) c.2861+53G>A (n.2861+53G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.50497281G>A | CA47360344 | NRXN1 | c.2879+52C>T (n.2879+52C>T) n.855+52C>T n.1778+52C>T n.46+52C>T c.2033+52C>T (n.2033+52C>T) c.2024+52C>T (n.2024+52C>T) c.2999+52C>T (n.2999+52C>T) c.2843+52C>T (n.2843+52C>T) c.2069+52C>T (n.2069+52C>T) c.2855+52C>T (n.2855+52C>T) c.2900+52C>T (n.2900+52C>T) c.2897+52C>T (n.2897+52C>T) c.2888+52C>T (n.2888+52C>T) c.2882+52C>T (n.2882+52C>T) c.2873+52C>T (n.2873+52C>T) c.2870+52C>T (n.2870+52C>T) c.2840+52C>T (n.2840+52C>T) c.2810+52C>T (n.2810+52C>T) c.2105+52C>T (n.2105+52C>T) c.2060+52C>T (n.2060+52C>T) c.1940+52C>T (n.1940+52C>T) c.2813+52C>T (n.2813+52C>T) c.2852+52C>T (n.2852+52C>T) c.2768+52C>T (n.2768+52C>T) c.2798+52C>T (n.2798+52C>T) c.2876+52C>T (n.2876+52C>T) c.2867+52C>T (n.2867+52C>T) c.2828+52C>T (n.2828+52C>T) c.2837+52C>T (n.2837+52C>T) c.2861+52C>T (n.2861+52C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.50497281G= | CA1249594690 | NRXN1 | c.2879+52C= (n.2879+52C=) n.855+52C= n.1778+52C= n.46+52C= c.2033+52C= (n.2033+52C=) c.2024+52C= (n.2024+52C=) c.2999+52C= (n.2999+52C=) c.2843+52C= (n.2843+52C=) c.2069+52C= (n.2069+52C=) c.2855+52C= (n.2855+52C=) c.2900+52C= (n.2900+52C=) c.2897+52C= (n.2897+52C=) c.2888+52C= (n.2888+52C=) c.2882+52C= (n.2882+52C=) c.2873+52C= (n.2873+52C=) c.2870+52C= (n.2870+52C=) c.2840+52C= (n.2840+52C=) c.2810+52C= (n.2810+52C=) c.2105+52C= (n.2105+52C=) c.2060+52C= (n.2060+52C=) c.1940+52C= (n.1940+52C=) c.2813+52C= (n.2813+52C=) c.2852+52C= (n.2852+52C=) c.2768+52C= (n.2768+52C=) c.2798+52C= (n.2798+52C=) c.2876+52C= (n.2876+52C=) c.2867+52C= (n.2867+52C=) c.2828+52C= (n.2828+52C=) c.2837+52C= (n.2837+52C=) c.2861+52C= (n.2861+52C=) | |
2 | g.50497281G>T | CA2658985144 | NRXN1 | c.2879+52C>A (n.2879+52C>A) n.855+52C>A n.1778+52C>A n.46+52C>A c.2033+52C>A (n.2033+52C>A) c.2024+52C>A (n.2024+52C>A) c.2999+52C>A (n.2999+52C>A) c.2843+52C>A (n.2843+52C>A) c.2069+52C>A (n.2069+52C>A) c.2855+52C>A (n.2855+52C>A) c.2900+52C>A (n.2900+52C>A) c.2897+52C>A (n.2897+52C>A) c.2888+52C>A (n.2888+52C>A) c.2882+52C>A (n.2882+52C>A) c.2873+52C>A (n.2873+52C>A) c.2870+52C>A (n.2870+52C>A) c.2840+52C>A (n.2840+52C>A) c.2810+52C>A (n.2810+52C>A) c.2105+52C>A (n.2105+52C>A) c.2060+52C>A (n.2060+52C>A) c.1940+52C>A (n.1940+52C>A) c.2813+52C>A (n.2813+52C>A) c.2852+52C>A (n.2852+52C>A) c.2768+52C>A (n.2768+52C>A) c.2798+52C>A (n.2798+52C>A) c.2876+52C>A (n.2876+52C>A) c.2867+52C>A (n.2867+52C>A) c.2828+52C>A (n.2828+52C>A) c.2837+52C>A (n.2837+52C>A) c.2861+52C>A (n.2861+52C>A) | gnomAD v4 |
2 | g.50497282T>C | CA2576964691 | NRXN1 | c.2879+51A>G (n.2879+51A>G) n.855+51A>G n.1778+51A>G n.46+51A>G c.2033+51A>G (n.2033+51A>G) c.2024+51A>G (n.2024+51A>G) c.2999+51A>G (n.2999+51A>G) c.2843+51A>G (n.2843+51A>G) c.2069+51A>G (n.2069+51A>G) c.2855+51A>G (n.2855+51A>G) c.2900+51A>G (n.2900+51A>G) c.2897+51A>G (n.2897+51A>G) c.2888+51A>G (n.2888+51A>G) c.2882+51A>G (n.2882+51A>G) c.2873+51A>G (n.2873+51A>G) c.2870+51A>G (n.2870+51A>G) c.2840+51A>G (n.2840+51A>G) c.2810+51A>G (n.2810+51A>G) c.2105+51A>G (n.2105+51A>G) c.2060+51A>G (n.2060+51A>G) c.1940+51A>G (n.1940+51A>G) c.2813+51A>G (n.2813+51A>G) c.2852+51A>G (n.2852+51A>G) c.2768+51A>G (n.2768+51A>G) c.2798+51A>G (n.2798+51A>G) c.2876+51A>G (n.2876+51A>G) c.2867+51A>G (n.2867+51A>G) c.2828+51A>G (n.2828+51A>G) c.2837+51A>G (n.2837+51A>G) c.2861+51A>G (n.2861+51A>G) | |
2 | g.50497283C>A | CA2658985145 | NRXN1 | c.2879+50G>T (n.2879+50G>T) n.855+50G>T n.1778+50G>T n.46+50G>T c.2033+50G>T (n.2033+50G>T) c.2024+50G>T (n.2024+50G>T) c.2999+50G>T (n.2999+50G>T) c.2843+50G>T (n.2843+50G>T) c.2069+50G>T (n.2069+50G>T) c.2855+50G>T (n.2855+50G>T) c.2900+50G>T (n.2900+50G>T) c.2897+50G>T (n.2897+50G>T) c.2888+50G>T (n.2888+50G>T) c.2882+50G>T (n.2882+50G>T) c.2873+50G>T (n.2873+50G>T) c.2870+50G>T (n.2870+50G>T) c.2840+50G>T (n.2840+50G>T) c.2810+50G>T (n.2810+50G>T) c.2105+50G>T (n.2105+50G>T) c.2060+50G>T (n.2060+50G>T) c.1940+50G>T (n.1940+50G>T) c.2813+50G>T (n.2813+50G>T) c.2852+50G>T (n.2852+50G>T) c.2768+50G>T (n.2768+50G>T) c.2798+50G>T (n.2798+50G>T) c.2876+50G>T (n.2876+50G>T) c.2867+50G>T (n.2867+50G>T) c.2828+50G>T (n.2828+50G>T) c.2837+50G>T (n.2837+50G>T) c.2861+50G>T (n.2861+50G>T) | gnomAD v4 |
2 | g.50497284C>A | CA47360356 | NRXN1 | c.2879+49G>T (n.2879+49G>T) n.855+49G>T n.1778+49G>T n.46+49G>T c.2033+49G>T (n.2033+49G>T) c.2024+49G>T (n.2024+49G>T) c.2999+49G>T (n.2999+49G>T) c.2843+49G>T (n.2843+49G>T) c.2069+49G>T (n.2069+49G>T) c.2855+49G>T (n.2855+49G>T) c.2900+49G>T (n.2900+49G>T) c.2897+49G>T (n.2897+49G>T) c.2888+49G>T (n.2888+49G>T) c.2882+49G>T (n.2882+49G>T) c.2873+49G>T (n.2873+49G>T) c.2870+49G>T (n.2870+49G>T) c.2840+49G>T (n.2840+49G>T) c.2810+49G>T (n.2810+49G>T) c.2105+49G>T (n.2105+49G>T) c.2060+49G>T (n.2060+49G>T) c.1940+49G>T (n.1940+49G>T) c.2813+49G>T (n.2813+49G>T) c.2852+49G>T (n.2852+49G>T) c.2768+49G>T (n.2768+49G>T) c.2798+49G>T (n.2798+49G>T) c.2876+49G>T (n.2876+49G>T) c.2867+49G>T (n.2867+49G>T) c.2828+49G>T (n.2828+49G>T) c.2837+49G>T (n.2837+49G>T) c.2861+49G>T (n.2861+49G>T) | dbSNP gnomAD v4 |
2 | g.50497284C= | CA1249594691 | NRXN1 | c.2879+49G= (n.2879+49G=) n.855+49G= n.1778+49G= n.46+49G= c.2033+49G= (n.2033+49G=) c.2024+49G= (n.2024+49G=) c.2999+49G= (n.2999+49G=) c.2843+49G= (n.2843+49G=) c.2069+49G= (n.2069+49G=) c.2855+49G= (n.2855+49G=) c.2900+49G= (n.2900+49G=) c.2897+49G= (n.2897+49G=) c.2888+49G= (n.2888+49G=) c.2882+49G= (n.2882+49G=) c.2873+49G= (n.2873+49G=) c.2870+49G= (n.2870+49G=) c.2840+49G= (n.2840+49G=) c.2810+49G= (n.2810+49G=) c.2105+49G= (n.2105+49G=) c.2060+49G= (n.2060+49G=) c.1940+49G= (n.1940+49G=) c.2813+49G= (n.2813+49G=) c.2852+49G= (n.2852+49G=) c.2768+49G= (n.2768+49G=) c.2798+49G= (n.2798+49G=) c.2876+49G= (n.2876+49G=) c.2867+49G= (n.2867+49G=) c.2828+49G= (n.2828+49G=) c.2837+49G= (n.2837+49G=) c.2861+49G= (n.2861+49G=) | |
2 | g.50497284C>T | CA769780648 | NRXN1 | c.2879+49G>A (n.2879+49G>A) n.855+49G>A n.1778+49G>A n.46+49G>A c.2033+49G>A (n.2033+49G>A) c.2024+49G>A (n.2024+49G>A) c.2999+49G>A (n.2999+49G>A) c.2843+49G>A (n.2843+49G>A) c.2069+49G>A (n.2069+49G>A) c.2855+49G>A (n.2855+49G>A) c.2900+49G>A (n.2900+49G>A) c.2897+49G>A (n.2897+49G>A) c.2888+49G>A (n.2888+49G>A) c.2882+49G>A (n.2882+49G>A) c.2873+49G>A (n.2873+49G>A) c.2870+49G>A (n.2870+49G>A) c.2840+49G>A (n.2840+49G>A) c.2810+49G>A (n.2810+49G>A) c.2105+49G>A (n.2105+49G>A) c.2060+49G>A (n.2060+49G>A) c.1940+49G>A (n.1940+49G>A) c.2813+49G>A (n.2813+49G>A) c.2852+49G>A (n.2852+49G>A) c.2768+49G>A (n.2768+49G>A) c.2798+49G>A (n.2798+49G>A) c.2876+49G>A (n.2876+49G>A) c.2867+49G>A (n.2867+49G>A) c.2828+49G>A (n.2828+49G>A) c.2837+49G>A (n.2837+49G>A) c.2861+49G>A (n.2861+49G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.50497285A>T | CA2699320078 | NRXN1 | c.2879+48T>A (n.2879+48T>A) n.855+48T>A n.1778+48T>A n.46+48T>A c.2033+48T>A (n.2033+48T>A) c.2024+48T>A (n.2024+48T>A) c.2999+48T>A (n.2999+48T>A) c.2843+48T>A (n.2843+48T>A) c.2069+48T>A (n.2069+48T>A) c.2855+48T>A (n.2855+48T>A) c.2900+48T>A (n.2900+48T>A) c.2897+48T>A (n.2897+48T>A) c.2888+48T>A (n.2888+48T>A) c.2882+48T>A (n.2882+48T>A) c.2873+48T>A (n.2873+48T>A) c.2870+48T>A (n.2870+48T>A) c.2840+48T>A (n.2840+48T>A) c.2810+48T>A (n.2810+48T>A) c.2105+48T>A (n.2105+48T>A) c.2060+48T>A (n.2060+48T>A) c.1940+48T>A (n.1940+48T>A) c.2813+48T>A (n.2813+48T>A) c.2852+48T>A (n.2852+48T>A) c.2768+48T>A (n.2768+48T>A) c.2798+48T>A (n.2798+48T>A) c.2876+48T>A (n.2876+48T>A) c.2867+48T>A (n.2867+48T>A) c.2828+48T>A (n.2828+48T>A) c.2837+48T>A (n.2837+48T>A) c.2861+48T>A (n.2861+48T>A) | dbSNP |
2 | g.50497285_50497286delinsAT | CA1249594692 | NRXN1 | c.2879+47_2879+48delinsAT (n.2879+47_2879+48delinsAT) n.855+47_855+48delinsAT n.1778+47_1778+48delinsAT n.46+47_46+48delinsAT c.2033+47_2033+48delinsAT (n.2033+47_2033+48delinsAT) c.2024+47_2024+48delinsAT (n.2024+47_2024+48delinsAT) c.2999+47_2999+48delinsAT (n.2999+47_2999+48delinsAT) c.2843+47_2843+48delinsAT (n.2843+47_2843+48delinsAT) c.2069+47_2069+48delinsAT (n.2069+47_2069+48delinsAT) c.2855+47_2855+48delinsAT (n.2855+47_2855+48delinsAT) c.2900+47_2900+48delinsAT (n.2900+47_2900+48delinsAT) c.2897+47_2897+48delinsAT (n.2897+47_2897+48delinsAT) c.2888+47_2888+48delinsAT (n.2888+47_2888+48delinsAT) c.2882+47_2882+48delinsAT (n.2882+47_2882+48delinsAT) c.2873+47_2873+48delinsAT (n.2873+47_2873+48delinsAT) c.2870+47_2870+48delinsAT (n.2870+47_2870+48delinsAT) c.2840+47_2840+48delinsAT (n.2840+47_2840+48delinsAT) c.2810+47_2810+48delinsAT (n.2810+47_2810+48delinsAT) c.2105+47_2105+48delinsAT (n.2105+47_2105+48delinsAT) c.2060+47_2060+48delinsAT (n.2060+47_2060+48delinsAT) c.1940+47_1940+48delinsAT (n.1940+47_1940+48delinsAT) c.2813+47_2813+48delinsAT (n.2813+47_2813+48delinsAT) c.2852+47_2852+48delinsAT (n.2852+47_2852+48delinsAT) c.2768+47_2768+48delinsAT (n.2768+47_2768+48delinsAT) c.2798+47_2798+48delinsAT (n.2798+47_2798+48delinsAT) c.2876+47_2876+48delinsAT (n.2876+47_2876+48delinsAT) c.2867+47_2867+48delinsAT (n.2867+47_2867+48delinsAT) c.2828+47_2828+48delinsAT (n.2828+47_2828+48delinsAT) c.2837+47_2837+48delinsAT (n.2837+47_2837+48delinsAT) c.2861+47_2861+48delinsAT (n.2861+47_2861+48delinsAT) | |
2 | g.50497286T>C | CA2576964692 | NRXN1 | c.2879+47A>G (n.2879+47A>G) n.855+47A>G n.1778+47A>G n.46+47A>G c.2033+47A>G (n.2033+47A>G) c.2024+47A>G (n.2024+47A>G) c.2999+47A>G (n.2999+47A>G) c.2843+47A>G (n.2843+47A>G) c.2069+47A>G (n.2069+47A>G) c.2855+47A>G (n.2855+47A>G) c.2900+47A>G (n.2900+47A>G) c.2897+47A>G (n.2897+47A>G) c.2888+47A>G (n.2888+47A>G) c.2882+47A>G (n.2882+47A>G) c.2873+47A>G (n.2873+47A>G) c.2870+47A>G (n.2870+47A>G) c.2840+47A>G (n.2840+47A>G) c.2810+47A>G (n.2810+47A>G) c.2105+47A>G (n.2105+47A>G) c.2060+47A>G (n.2060+47A>G) c.1940+47A>G (n.1940+47A>G) c.2813+47A>G (n.2813+47A>G) c.2852+47A>G (n.2852+47A>G) c.2768+47A>G (n.2768+47A>G) c.2798+47A>G (n.2798+47A>G) c.2876+47A>G (n.2876+47A>G) c.2867+47A>G (n.2867+47A>G) c.2828+47A>G (n.2828+47A>G) c.2837+47A>G (n.2837+47A>G) c.2861+47A>G (n.2861+47A>G) | |
2 | g.50497290del | CA1249594693 | NRXN1 | c.2879+47del (n.2879+47del) n.855+47del n.1778+47del n.46+47del c.2033+47del (n.2033+47del) c.2024+47del (n.2024+47del) c.2999+47del (n.2999+47del) c.2843+47del (n.2843+47del) c.2069+47del (n.2069+47del) c.2855+47del (n.2855+47del) c.2900+47del (n.2900+47del) c.2897+47del (n.2897+47del) c.2888+47del (n.2888+47del) c.2882+47del (n.2882+47del) c.2873+47del (n.2873+47del) c.2870+47del (n.2870+47del) c.2840+47del (n.2840+47del) c.2810+47del (n.2810+47del) c.2105+47del (n.2105+47del) c.2060+47del (n.2060+47del) c.1940+47del (n.1940+47del) c.2813+47del (n.2813+47del) c.2852+47del (n.2852+47del) c.2768+47del (n.2768+47del) c.2798+47del (n.2798+47del) c.2876+47del (n.2876+47del) c.2867+47del (n.2867+47del) c.2828+47del (n.2828+47del) c.2837+47del (n.2837+47del) c.2861+47del (n.2861+47del) | dbSNP gnomAD v4 |
2 | g.50497288T>G | CA1249594694 | NRXN1 | c.2879+45A>C (n.2879+45A>C) n.855+45A>C n.1778+45A>C n.46+45A>C c.2033+45A>C (n.2033+45A>C) c.2024+45A>C (n.2024+45A>C) c.2999+45A>C (n.2999+45A>C) c.2843+45A>C (n.2843+45A>C) c.2069+45A>C (n.2069+45A>C) c.2855+45A>C (n.2855+45A>C) c.2900+45A>C (n.2900+45A>C) c.2897+45A>C (n.2897+45A>C) c.2888+45A>C (n.2888+45A>C) c.2882+45A>C (n.2882+45A>C) c.2873+45A>C (n.2873+45A>C) c.2870+45A>C (n.2870+45A>C) c.2840+45A>C (n.2840+45A>C) c.2810+45A>C (n.2810+45A>C) c.2105+45A>C (n.2105+45A>C) c.2060+45A>C (n.2060+45A>C) c.1940+45A>C (n.1940+45A>C) c.2813+45A>C (n.2813+45A>C) c.2852+45A>C (n.2852+45A>C) c.2768+45A>C (n.2768+45A>C) c.2798+45A>C (n.2798+45A>C) c.2876+45A>C (n.2876+45A>C) c.2867+45A>C (n.2867+45A>C) c.2828+45A>C (n.2828+45A>C) c.2837+45A>C (n.2837+45A>C) c.2861+45A>C (n.2861+45A>C) | dbSNP |
2 | g.50497288T= | CA1249594695 | NRXN1 | c.2879+45A= (n.2879+45A=) n.855+45A= n.1778+45A= n.46+45A= c.2033+45A= (n.2033+45A=) c.2024+45A= (n.2024+45A=) c.2999+45A= (n.2999+45A=) c.2843+45A= (n.2843+45A=) c.2069+45A= (n.2069+45A=) c.2855+45A= (n.2855+45A=) c.2900+45A= (n.2900+45A=) c.2897+45A= (n.2897+45A=) c.2888+45A= (n.2888+45A=) c.2882+45A= (n.2882+45A=) c.2873+45A= (n.2873+45A=) c.2870+45A= (n.2870+45A=) c.2840+45A= (n.2840+45A=) c.2810+45A= (n.2810+45A=) c.2105+45A= (n.2105+45A=) c.2060+45A= (n.2060+45A=) c.1940+45A= (n.1940+45A=) c.2813+45A= (n.2813+45A=) c.2852+45A= (n.2852+45A=) c.2768+45A= (n.2768+45A=) c.2798+45A= (n.2798+45A=) c.2876+45A= (n.2876+45A=) c.2867+45A= (n.2867+45A=) c.2828+45A= (n.2828+45A=) c.2837+45A= (n.2837+45A=) c.2861+45A= (n.2861+45A=) | |
2 | g.50497289T>C | CA2658985146 | NRXN1 | c.2879+44A>G (n.2879+44A>G) n.855+44A>G n.1778+44A>G n.46+44A>G c.2033+44A>G (n.2033+44A>G) c.2024+44A>G (n.2024+44A>G) c.2999+44A>G (n.2999+44A>G) c.2843+44A>G (n.2843+44A>G) c.2069+44A>G (n.2069+44A>G) c.2855+44A>G (n.2855+44A>G) c.2900+44A>G (n.2900+44A>G) c.2897+44A>G (n.2897+44A>G) c.2888+44A>G (n.2888+44A>G) c.2882+44A>G (n.2882+44A>G) c.2873+44A>G (n.2873+44A>G) c.2870+44A>G (n.2870+44A>G) c.2840+44A>G (n.2840+44A>G) c.2810+44A>G (n.2810+44A>G) c.2105+44A>G (n.2105+44A>G) c.2060+44A>G (n.2060+44A>G) c.1940+44A>G (n.1940+44A>G) c.2813+44A>G (n.2813+44A>G) c.2852+44A>G (n.2852+44A>G) c.2768+44A>G (n.2768+44A>G) c.2798+44A>G (n.2798+44A>G) c.2876+44A>G (n.2876+44A>G) c.2867+44A>G (n.2867+44A>G) c.2828+44A>G (n.2828+44A>G) c.2837+44A>G (n.2837+44A>G) c.2861+44A>G (n.2861+44A>G) | gnomAD v4 |
2 | g.50497290T>C | CA2740273364 | NRXN1 | c.2879+43A>G (n.2879+43A>G) n.855+43A>G n.1778+43A>G n.46+43A>G c.2033+43A>G (n.2033+43A>G) c.2024+43A>G (n.2024+43A>G) c.2999+43A>G (n.2999+43A>G) c.2843+43A>G (n.2843+43A>G) c.2069+43A>G (n.2069+43A>G) c.2855+43A>G (n.2855+43A>G) c.2900+43A>G (n.2900+43A>G) c.2897+43A>G (n.2897+43A>G) c.2888+43A>G (n.2888+43A>G) c.2882+43A>G (n.2882+43A>G) c.2873+43A>G (n.2873+43A>G) c.2870+43A>G (n.2870+43A>G) c.2840+43A>G (n.2840+43A>G) c.2810+43A>G (n.2810+43A>G) c.2105+43A>G (n.2105+43A>G) c.2060+43A>G (n.2060+43A>G) c.1940+43A>G (n.1940+43A>G) c.2813+43A>G (n.2813+43A>G) c.2852+43A>G (n.2852+43A>G) c.2768+43A>G (n.2768+43A>G) c.2798+43A>G (n.2798+43A>G) c.2876+43A>G (n.2876+43A>G) c.2867+43A>G (n.2867+43A>G) c.2828+43A>G (n.2828+43A>G) c.2837+43A>G (n.2837+43A>G) c.2861+43A>G (n.2861+43A>G) | |
2 | g.50497291C>A | CA2658985148 | NRXN1 | c.2879+42G>T (n.2879+42G>T) n.855+42G>T n.1778+42G>T n.46+42G>T c.2033+42G>T (n.2033+42G>T) c.2024+42G>T (n.2024+42G>T) c.2999+42G>T (n.2999+42G>T) c.2843+42G>T (n.2843+42G>T) c.2069+42G>T (n.2069+42G>T) c.2855+42G>T (n.2855+42G>T) c.2900+42G>T (n.2900+42G>T) c.2897+42G>T (n.2897+42G>T) c.2888+42G>T (n.2888+42G>T) c.2882+42G>T (n.2882+42G>T) c.2873+42G>T (n.2873+42G>T) c.2870+42G>T (n.2870+42G>T) c.2840+42G>T (n.2840+42G>T) c.2810+42G>T (n.2810+42G>T) c.2105+42G>T (n.2105+42G>T) c.2060+42G>T (n.2060+42G>T) c.1940+42G>T (n.1940+42G>T) c.2813+42G>T (n.2813+42G>T) c.2852+42G>T (n.2852+42G>T) c.2768+42G>T (n.2768+42G>T) c.2798+42G>T (n.2798+42G>T) c.2876+42G>T (n.2876+42G>T) c.2867+42G>T (n.2867+42G>T) c.2828+42G>T (n.2828+42G>T) c.2837+42G>T (n.2837+42G>T) c.2861+42G>T (n.2861+42G>T) | gnomAD v4 |
2 | g.50497291C>T | CA2658985149 | NRXN1 | c.2879+42G>A (n.2879+42G>A) n.855+42G>A n.1778+42G>A n.46+42G>A c.2033+42G>A (n.2033+42G>A) c.2024+42G>A (n.2024+42G>A) c.2999+42G>A (n.2999+42G>A) c.2843+42G>A (n.2843+42G>A) c.2069+42G>A (n.2069+42G>A) c.2855+42G>A (n.2855+42G>A) c.2900+42G>A (n.2900+42G>A) c.2897+42G>A (n.2897+42G>A) c.2888+42G>A (n.2888+42G>A) c.2882+42G>A (n.2882+42G>A) c.2873+42G>A (n.2873+42G>A) c.2870+42G>A (n.2870+42G>A) c.2840+42G>A (n.2840+42G>A) c.2810+42G>A (n.2810+42G>A) c.2105+42G>A (n.2105+42G>A) c.2060+42G>A (n.2060+42G>A) c.1940+42G>A (n.1940+42G>A) c.2813+42G>A (n.2813+42G>A) c.2852+42G>A (n.2852+42G>A) c.2768+42G>A (n.2768+42G>A) c.2798+42G>A (n.2798+42G>A) c.2876+42G>A (n.2876+42G>A) c.2867+42G>A (n.2867+42G>A) c.2828+42G>A (n.2828+42G>A) c.2837+42G>A (n.2837+42G>A) c.2861+42G>A (n.2861+42G>A) | gnomAD v4 |
2 | g.50497291_50497296del | CA2658985147 | NRXN1 | c.2879+37_2879+42del (n.2879+37_2879+42del) n.855+37_855+42del n.1778+37_1778+42del n.46+37_46+42del c.2033+37_2033+42del (n.2033+37_2033+42del) c.2024+37_2024+42del (n.2024+37_2024+42del) c.2999+37_2999+42del (n.2999+37_2999+42del) c.2843+37_2843+42del (n.2843+37_2843+42del) c.2069+37_2069+42del (n.2069+37_2069+42del) c.2855+37_2855+42del (n.2855+37_2855+42del) c.2900+37_2900+42del (n.2900+37_2900+42del) c.2897+37_2897+42del (n.2897+37_2897+42del) c.2888+37_2888+42del (n.2888+37_2888+42del) c.2882+37_2882+42del (n.2882+37_2882+42del) c.2873+37_2873+42del (n.2873+37_2873+42del) c.2870+37_2870+42del (n.2870+37_2870+42del) c.2840+37_2840+42del (n.2840+37_2840+42del) c.2810+37_2810+42del (n.2810+37_2810+42del) c.2105+37_2105+42del (n.2105+37_2105+42del) c.2060+37_2060+42del (n.2060+37_2060+42del) c.1940+37_1940+42del (n.1940+37_1940+42del) c.2813+37_2813+42del (n.2813+37_2813+42del) c.2852+37_2852+42del (n.2852+37_2852+42del) c.2768+37_2768+42del (n.2768+37_2768+42del) c.2798+37_2798+42del (n.2798+37_2798+42del) c.2876+37_2876+42del (n.2876+37_2876+42del) c.2867+37_2867+42del (n.2867+37_2867+42del) c.2828+37_2828+42del (n.2828+37_2828+42del) c.2837+37_2837+42del (n.2837+37_2837+42del) c.2861+37_2861+42del (n.2861+37_2861+42del) | gnomAD v4 |
2 | g.50497292C>A | CA2658985150 | NRXN1 | c.2879+41G>T (n.2879+41G>T) n.855+41G>T n.1778+41G>T n.46+41G>T c.2033+41G>T (n.2033+41G>T) c.2024+41G>T (n.2024+41G>T) c.2999+41G>T (n.2999+41G>T) c.2843+41G>T (n.2843+41G>T) c.2069+41G>T (n.2069+41G>T) c.2855+41G>T (n.2855+41G>T) c.2900+41G>T (n.2900+41G>T) c.2897+41G>T (n.2897+41G>T) c.2888+41G>T (n.2888+41G>T) c.2882+41G>T (n.2882+41G>T) c.2873+41G>T (n.2873+41G>T) c.2870+41G>T (n.2870+41G>T) c.2840+41G>T (n.2840+41G>T) c.2810+41G>T (n.2810+41G>T) c.2105+41G>T (n.2105+41G>T) c.2060+41G>T (n.2060+41G>T) c.1940+41G>T (n.1940+41G>T) c.2813+41G>T (n.2813+41G>T) c.2852+41G>T (n.2852+41G>T) c.2768+41G>T (n.2768+41G>T) c.2798+41G>T (n.2798+41G>T) c.2876+41G>T (n.2876+41G>T) c.2867+41G>T (n.2867+41G>T) c.2828+41G>T (n.2828+41G>T) c.2837+41G>T (n.2837+41G>T) c.2861+41G>T (n.2861+41G>T) | gnomAD v4 |
2 | g.50497292C>T | CA2658985151 | NRXN1 | c.2879+41G>A (n.2879+41G>A) n.855+41G>A n.1778+41G>A n.46+41G>A c.2033+41G>A (n.2033+41G>A) c.2024+41G>A (n.2024+41G>A) c.2999+41G>A (n.2999+41G>A) c.2843+41G>A (n.2843+41G>A) c.2069+41G>A (n.2069+41G>A) c.2855+41G>A (n.2855+41G>A) c.2900+41G>A (n.2900+41G>A) c.2897+41G>A (n.2897+41G>A) c.2888+41G>A (n.2888+41G>A) c.2882+41G>A (n.2882+41G>A) c.2873+41G>A (n.2873+41G>A) c.2870+41G>A (n.2870+41G>A) c.2840+41G>A (n.2840+41G>A) c.2810+41G>A (n.2810+41G>A) c.2105+41G>A (n.2105+41G>A) c.2060+41G>A (n.2060+41G>A) c.1940+41G>A (n.1940+41G>A) c.2813+41G>A (n.2813+41G>A) c.2852+41G>A (n.2852+41G>A) c.2768+41G>A (n.2768+41G>A) c.2798+41G>A (n.2798+41G>A) c.2876+41G>A (n.2876+41G>A) c.2867+41G>A (n.2867+41G>A) c.2828+41G>A (n.2828+41G>A) c.2837+41G>A (n.2837+41G>A) c.2861+41G>A (n.2861+41G>A) | gnomAD v4 |
2 | g.50497293A= | CA1249594696 | NRXN1 | c.2879+40T= (n.2879+40T=) n.855+40T= n.1778+40T= n.46+40T= c.2033+40T= (n.2033+40T=) c.2024+40T= (n.2024+40T=) c.2999+40T= (n.2999+40T=) c.2843+40T= (n.2843+40T=) c.2069+40T= (n.2069+40T=) c.2855+40T= (n.2855+40T=) c.2900+40T= (n.2900+40T=) c.2897+40T= (n.2897+40T=) c.2888+40T= (n.2888+40T=) c.2882+40T= (n.2882+40T=) c.2873+40T= (n.2873+40T=) c.2870+40T= (n.2870+40T=) c.2840+40T= (n.2840+40T=) c.2810+40T= (n.2810+40T=) c.2105+40T= (n.2105+40T=) c.2060+40T= (n.2060+40T=) c.1940+40T= (n.1940+40T=) c.2813+40T= (n.2813+40T=) c.2852+40T= (n.2852+40T=) c.2768+40T= (n.2768+40T=) c.2798+40T= (n.2798+40T=) c.2876+40T= (n.2876+40T=) c.2867+40T= (n.2867+40T=) c.2828+40T= (n.2828+40T=) c.2837+40T= (n.2837+40T=) c.2861+40T= (n.2861+40T=) | |
2 | g.50497293A>C | CA1654716 | NRXN1 | c.2879+40T>G (n.2879+40T>G) n.855+40T>G n.1778+40T>G n.46+40T>G c.2033+40T>G (n.2033+40T>G) c.2024+40T>G (n.2024+40T>G) c.2999+40T>G (n.2999+40T>G) c.2843+40T>G (n.2843+40T>G) c.2069+40T>G (n.2069+40T>G) c.2855+40T>G (n.2855+40T>G) c.2900+40T>G (n.2900+40T>G) c.2897+40T>G (n.2897+40T>G) c.2888+40T>G (n.2888+40T>G) c.2882+40T>G (n.2882+40T>G) c.2873+40T>G (n.2873+40T>G) c.2870+40T>G (n.2870+40T>G) c.2840+40T>G (n.2840+40T>G) c.2810+40T>G (n.2810+40T>G) c.2105+40T>G (n.2105+40T>G) c.2060+40T>G (n.2060+40T>G) c.1940+40T>G (n.1940+40T>G) c.2813+40T>G (n.2813+40T>G) c.2852+40T>G (n.2852+40T>G) c.2768+40T>G (n.2768+40T>G) c.2798+40T>G (n.2798+40T>G) c.2876+40T>G (n.2876+40T>G) c.2867+40T>G (n.2867+40T>G) c.2828+40T>G (n.2828+40T>G) c.2837+40T>G (n.2837+40T>G) c.2861+40T>G (n.2861+40T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.50497293A>G | CA1654715 | NRXN1 | c.2879+40T>C (n.2879+40T>C) n.855+40T>C n.1778+40T>C n.46+40T>C c.2033+40T>C (n.2033+40T>C) c.2024+40T>C (n.2024+40T>C) c.2999+40T>C (n.2999+40T>C) c.2843+40T>C (n.2843+40T>C) c.2069+40T>C (n.2069+40T>C) c.2855+40T>C (n.2855+40T>C) c.2900+40T>C (n.2900+40T>C) c.2897+40T>C (n.2897+40T>C) c.2888+40T>C (n.2888+40T>C) c.2882+40T>C (n.2882+40T>C) c.2873+40T>C (n.2873+40T>C) c.2870+40T>C (n.2870+40T>C) c.2840+40T>C (n.2840+40T>C) c.2810+40T>C (n.2810+40T>C) c.2105+40T>C (n.2105+40T>C) c.2060+40T>C (n.2060+40T>C) c.1940+40T>C (n.1940+40T>C) c.2813+40T>C (n.2813+40T>C) c.2852+40T>C (n.2852+40T>C) c.2768+40T>C (n.2768+40T>C) c.2798+40T>C (n.2798+40T>C) c.2876+40T>C (n.2876+40T>C) c.2867+40T>C (n.2867+40T>C) c.2828+40T>C (n.2828+40T>C) c.2837+40T>C (n.2837+40T>C) c.2861+40T>C (n.2861+40T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.50497294A= | CA1249594697 | NRXN1 | c.2879+39T= (n.2879+39T=) n.855+39T= n.1778+39T= n.46+39T= c.2033+39T= (n.2033+39T=) c.2024+39T= (n.2024+39T=) c.2999+39T= (n.2999+39T=) c.2843+39T= (n.2843+39T=) c.2069+39T= (n.2069+39T=) c.2855+39T= (n.2855+39T=) c.2900+39T= (n.2900+39T=) c.2897+39T= (n.2897+39T=) c.2888+39T= (n.2888+39T=) c.2882+39T= (n.2882+39T=) c.2873+39T= (n.2873+39T=) c.2870+39T= (n.2870+39T=) c.2840+39T= (n.2840+39T=) c.2810+39T= (n.2810+39T=) c.2105+39T= (n.2105+39T=) c.2060+39T= (n.2060+39T=) c.1940+39T= (n.1940+39T=) c.2813+39T= (n.2813+39T=) c.2852+39T= (n.2852+39T=) c.2768+39T= (n.2768+39T=) c.2798+39T= (n.2798+39T=) c.2876+39T= (n.2876+39T=) c.2867+39T= (n.2867+39T=) c.2828+39T= (n.2828+39T=) c.2837+39T= (n.2837+39T=) c.2861+39T= (n.2861+39T=) | |
2 | g.50497294A>C | CA1030531654 | NRXN1 | c.2879+39T>G (n.2879+39T>G) n.855+39T>G n.1778+39T>G n.46+39T>G c.2033+39T>G (n.2033+39T>G) c.2024+39T>G (n.2024+39T>G) c.2999+39T>G (n.2999+39T>G) c.2843+39T>G (n.2843+39T>G) c.2069+39T>G (n.2069+39T>G) c.2855+39T>G (n.2855+39T>G) c.2900+39T>G (n.2900+39T>G) c.2897+39T>G (n.2897+39T>G) c.2888+39T>G (n.2888+39T>G) c.2882+39T>G (n.2882+39T>G) c.2873+39T>G (n.2873+39T>G) c.2870+39T>G (n.2870+39T>G) c.2840+39T>G (n.2840+39T>G) c.2810+39T>G (n.2810+39T>G) c.2105+39T>G (n.2105+39T>G) c.2060+39T>G (n.2060+39T>G) c.1940+39T>G (n.1940+39T>G) c.2813+39T>G (n.2813+39T>G) c.2852+39T>G (n.2852+39T>G) c.2768+39T>G (n.2768+39T>G) c.2798+39T>G (n.2798+39T>G) c.2876+39T>G (n.2876+39T>G) c.2867+39T>G (n.2867+39T>G) c.2828+39T>G (n.2828+39T>G) c.2837+39T>G (n.2837+39T>G) c.2861+39T>G (n.2861+39T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.50497294A>G | CA2658985152 | NRXN1 | c.2879+39T>C (n.2879+39T>C) n.855+39T>C n.1778+39T>C n.46+39T>C c.2033+39T>C (n.2033+39T>C) c.2024+39T>C (n.2024+39T>C) c.2999+39T>C (n.2999+39T>C) c.2843+39T>C (n.2843+39T>C) c.2069+39T>C (n.2069+39T>C) c.2855+39T>C (n.2855+39T>C) c.2900+39T>C (n.2900+39T>C) c.2897+39T>C (n.2897+39T>C) c.2888+39T>C (n.2888+39T>C) c.2882+39T>C (n.2882+39T>C) c.2873+39T>C (n.2873+39T>C) c.2870+39T>C (n.2870+39T>C) c.2840+39T>C (n.2840+39T>C) c.2810+39T>C (n.2810+39T>C) c.2105+39T>C (n.2105+39T>C) c.2060+39T>C (n.2060+39T>C) c.1940+39T>C (n.1940+39T>C) c.2813+39T>C (n.2813+39T>C) c.2852+39T>C (n.2852+39T>C) c.2768+39T>C (n.2768+39T>C) c.2798+39T>C (n.2798+39T>C) c.2876+39T>C (n.2876+39T>C) c.2867+39T>C (n.2867+39T>C) c.2828+39T>C (n.2828+39T>C) c.2837+39T>C (n.2837+39T>C) c.2861+39T>C (n.2861+39T>C) | gnomAD v4 |
2 | g.50497295A>C | CA2658985153 | NRXN1 | c.2879+38T>G (n.2879+38T>G) n.855+38T>G n.1778+38T>G n.46+38T>G c.2033+38T>G (n.2033+38T>G) c.2024+38T>G (n.2024+38T>G) c.2999+38T>G (n.2999+38T>G) c.2843+38T>G (n.2843+38T>G) c.2069+38T>G (n.2069+38T>G) c.2855+38T>G (n.2855+38T>G) c.2900+38T>G (n.2900+38T>G) c.2897+38T>G (n.2897+38T>G) c.2888+38T>G (n.2888+38T>G) c.2882+38T>G (n.2882+38T>G) c.2873+38T>G (n.2873+38T>G) c.2870+38T>G (n.2870+38T>G) c.2840+38T>G (n.2840+38T>G) c.2810+38T>G (n.2810+38T>G) c.2105+38T>G (n.2105+38T>G) c.2060+38T>G (n.2060+38T>G) c.1940+38T>G (n.1940+38T>G) c.2813+38T>G (n.2813+38T>G) c.2852+38T>G (n.2852+38T>G) c.2768+38T>G (n.2768+38T>G) c.2798+38T>G (n.2798+38T>G) c.2876+38T>G (n.2876+38T>G) c.2867+38T>G (n.2867+38T>G) c.2828+38T>G (n.2828+38T>G) c.2837+38T>G (n.2837+38T>G) c.2861+38T>G (n.2861+38T>G) | gnomAD v4 |
2 | g.50497296G>A | CA769780651 | NRXN1 | c.2879+37C>T (n.2879+37C>T) n.855+37C>T n.1778+37C>T n.46+37C>T c.2033+37C>T (n.2033+37C>T) c.2024+37C>T (n.2024+37C>T) c.2999+37C>T (n.2999+37C>T) c.2843+37C>T (n.2843+37C>T) c.2069+37C>T (n.2069+37C>T) c.2855+37C>T (n.2855+37C>T) c.2900+37C>T (n.2900+37C>T) c.2897+37C>T (n.2897+37C>T) c.2888+37C>T (n.2888+37C>T) c.2882+37C>T (n.2882+37C>T) c.2873+37C>T (n.2873+37C>T) c.2870+37C>T (n.2870+37C>T) c.2840+37C>T (n.2840+37C>T) c.2810+37C>T (n.2810+37C>T) c.2105+37C>T (n.2105+37C>T) c.2060+37C>T (n.2060+37C>T) c.1940+37C>T (n.1940+37C>T) c.2813+37C>T (n.2813+37C>T) c.2852+37C>T (n.2852+37C>T) c.2768+37C>T (n.2768+37C>T) c.2798+37C>T (n.2798+37C>T) c.2876+37C>T (n.2876+37C>T) c.2867+37C>T (n.2867+37C>T) c.2828+37C>T (n.2828+37C>T) c.2837+37C>T (n.2837+37C>T) c.2861+37C>T (n.2861+37C>T) | dbSNP |
2 | g.50497296G>C | CA1030531656 | NRXN1 | c.2879+37C>G (n.2879+37C>G) n.855+37C>G n.1778+37C>G n.46+37C>G c.2033+37C>G (n.2033+37C>G) c.2024+37C>G (n.2024+37C>G) c.2999+37C>G (n.2999+37C>G) c.2843+37C>G (n.2843+37C>G) c.2069+37C>G (n.2069+37C>G) c.2855+37C>G (n.2855+37C>G) c.2900+37C>G (n.2900+37C>G) c.2897+37C>G (n.2897+37C>G) c.2888+37C>G (n.2888+37C>G) c.2882+37C>G (n.2882+37C>G) c.2873+37C>G (n.2873+37C>G) c.2870+37C>G (n.2870+37C>G) c.2840+37C>G (n.2840+37C>G) c.2810+37C>G (n.2810+37C>G) c.2105+37C>G (n.2105+37C>G) c.2060+37C>G (n.2060+37C>G) c.1940+37C>G (n.1940+37C>G) c.2813+37C>G (n.2813+37C>G) c.2852+37C>G (n.2852+37C>G) c.2768+37C>G (n.2768+37C>G) c.2798+37C>G (n.2798+37C>G) c.2876+37C>G (n.2876+37C>G) c.2867+37C>G (n.2867+37C>G) c.2828+37C>G (n.2828+37C>G) c.2837+37C>G (n.2837+37C>G) c.2861+37C>G (n.2861+37C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.50497296G= | CA1249594698 | NRXN1 | c.2879+37C= (n.2879+37C=) n.855+37C= n.1778+37C= n.46+37C= c.2033+37C= (n.2033+37C=) c.2024+37C= (n.2024+37C=) c.2999+37C= (n.2999+37C=) c.2843+37C= (n.2843+37C=) c.2069+37C= (n.2069+37C=) c.2855+37C= (n.2855+37C=) c.2900+37C= (n.2900+37C=) c.2897+37C= (n.2897+37C=) c.2888+37C= (n.2888+37C=) c.2882+37C= (n.2882+37C=) c.2873+37C= (n.2873+37C=) c.2870+37C= (n.2870+37C=) c.2840+37C= (n.2840+37C=) c.2810+37C= (n.2810+37C=) c.2105+37C= (n.2105+37C=) c.2060+37C= (n.2060+37C=) c.1940+37C= (n.1940+37C=) c.2813+37C= (n.2813+37C=) c.2852+37C= (n.2852+37C=) c.2768+37C= (n.2768+37C=) c.2798+37C= (n.2798+37C=) c.2876+37C= (n.2876+37C=) c.2867+37C= (n.2867+37C=) c.2828+37C= (n.2828+37C=) c.2837+37C= (n.2837+37C=) c.2861+37C= (n.2861+37C=) | |
2 | g.50497296G>T | CA2658985154 | NRXN1 | c.2879+37C>A (n.2879+37C>A) n.855+37C>A n.1778+37C>A n.46+37C>A c.2033+37C>A (n.2033+37C>A) c.2024+37C>A (n.2024+37C>A) c.2999+37C>A (n.2999+37C>A) c.2843+37C>A (n.2843+37C>A) c.2069+37C>A (n.2069+37C>A) c.2855+37C>A (n.2855+37C>A) c.2900+37C>A (n.2900+37C>A) c.2897+37C>A (n.2897+37C>A) c.2888+37C>A (n.2888+37C>A) c.2882+37C>A (n.2882+37C>A) c.2873+37C>A (n.2873+37C>A) c.2870+37C>A (n.2870+37C>A) c.2840+37C>A (n.2840+37C>A) c.2810+37C>A (n.2810+37C>A) c.2105+37C>A (n.2105+37C>A) c.2060+37C>A (n.2060+37C>A) c.1940+37C>A (n.1940+37C>A) c.2813+37C>A (n.2813+37C>A) c.2852+37C>A (n.2852+37C>A) c.2768+37C>A (n.2768+37C>A) c.2798+37C>A (n.2798+37C>A) c.2876+37C>A (n.2876+37C>A) c.2867+37C>A (n.2867+37C>A) c.2828+37C>A (n.2828+37C>A) c.2837+37C>A (n.2837+37C>A) c.2861+37C>A (n.2861+37C>A) | gnomAD v4 |
2 | g.50497297T>A | CA2658985155 | NRXN1 | c.2879+36A>T (n.2879+36A>T) n.855+36A>T n.1778+36A>T n.46+36A>T c.2033+36A>T (n.2033+36A>T) c.2024+36A>T (n.2024+36A>T) c.2999+36A>T (n.2999+36A>T) c.2843+36A>T (n.2843+36A>T) c.2069+36A>T (n.2069+36A>T) c.2855+36A>T (n.2855+36A>T) c.2900+36A>T (n.2900+36A>T) c.2897+36A>T (n.2897+36A>T) c.2888+36A>T (n.2888+36A>T) c.2882+36A>T (n.2882+36A>T) c.2873+36A>T (n.2873+36A>T) c.2870+36A>T (n.2870+36A>T) c.2840+36A>T (n.2840+36A>T) c.2810+36A>T (n.2810+36A>T) c.2105+36A>T (n.2105+36A>T) c.2060+36A>T (n.2060+36A>T) c.1940+36A>T (n.1940+36A>T) c.2813+36A>T (n.2813+36A>T) c.2852+36A>T (n.2852+36A>T) c.2768+36A>T (n.2768+36A>T) c.2798+36A>T (n.2798+36A>T) c.2876+36A>T (n.2876+36A>T) c.2867+36A>T (n.2867+36A>T) c.2828+36A>T (n.2828+36A>T) c.2837+36A>T (n.2837+36A>T) c.2861+36A>T (n.2861+36A>T) | gnomAD v4 |
2 | g.50497301A= | CA1249594699 | NRXN1 | c.2879+32T= (n.2879+32T=) n.855+32T= n.1778+32T= n.46+32T= c.2033+32T= (n.2033+32T=) c.2024+32T= (n.2024+32T=) c.2999+32T= (n.2999+32T=) c.2843+32T= (n.2843+32T=) c.2069+32T= (n.2069+32T=) c.2855+32T= (n.2855+32T=) c.2900+32T= (n.2900+32T=) c.2897+32T= (n.2897+32T=) c.2888+32T= (n.2888+32T=) c.2882+32T= (n.2882+32T=) c.2873+32T= (n.2873+32T=) c.2870+32T= (n.2870+32T=) c.2840+32T= (n.2840+32T=) c.2810+32T= (n.2810+32T=) c.2105+32T= (n.2105+32T=) c.2060+32T= (n.2060+32T=) c.1940+32T= (n.1940+32T=) c.2813+32T= (n.2813+32T=) c.2852+32T= (n.2852+32T=) c.2768+32T= (n.2768+32T=) c.2798+32T= (n.2798+32T=) c.2876+32T= (n.2876+32T=) c.2867+32T= (n.2867+32T=) c.2828+32T= (n.2828+32T=) c.2837+32T= (n.2837+32T=) c.2861+32T= (n.2861+32T=) | |
2 | g.50497301A>C | CA1249594700 | NRXN1 | c.2879+32T>G (n.2879+32T>G) n.855+32T>G n.1778+32T>G n.46+32T>G c.2033+32T>G (n.2033+32T>G) c.2024+32T>G (n.2024+32T>G) c.2999+32T>G (n.2999+32T>G) c.2843+32T>G (n.2843+32T>G) c.2069+32T>G (n.2069+32T>G) c.2855+32T>G (n.2855+32T>G) c.2900+32T>G (n.2900+32T>G) c.2897+32T>G (n.2897+32T>G) c.2888+32T>G (n.2888+32T>G) c.2882+32T>G (n.2882+32T>G) c.2873+32T>G (n.2873+32T>G) c.2870+32T>G (n.2870+32T>G) c.2840+32T>G (n.2840+32T>G) c.2810+32T>G (n.2810+32T>G) c.2105+32T>G (n.2105+32T>G) c.2060+32T>G (n.2060+32T>G) c.1940+32T>G (n.1940+32T>G) c.2813+32T>G (n.2813+32T>G) c.2852+32T>G (n.2852+32T>G) c.2768+32T>G (n.2768+32T>G) c.2798+32T>G (n.2798+32T>G) c.2876+32T>G (n.2876+32T>G) c.2867+32T>G (n.2867+32T>G) c.2828+32T>G (n.2828+32T>G) c.2837+32T>G (n.2837+32T>G) c.2861+32T>G (n.2861+32T>G) | dbSNP |
2 | g.50497301A>G | CA47360383 | NRXN1 | c.2879+32T>C (n.2879+32T>C) n.855+32T>C n.1778+32T>C n.46+32T>C c.2033+32T>C (n.2033+32T>C) c.2024+32T>C (n.2024+32T>C) c.2999+32T>C (n.2999+32T>C) c.2843+32T>C (n.2843+32T>C) c.2069+32T>C (n.2069+32T>C) c.2855+32T>C (n.2855+32T>C) c.2900+32T>C (n.2900+32T>C) c.2897+32T>C (n.2897+32T>C) c.2888+32T>C (n.2888+32T>C) c.2882+32T>C (n.2882+32T>C) c.2873+32T>C (n.2873+32T>C) c.2870+32T>C (n.2870+32T>C) c.2840+32T>C (n.2840+32T>C) c.2810+32T>C (n.2810+32T>C) c.2105+32T>C (n.2105+32T>C) c.2060+32T>C (n.2060+32T>C) c.1940+32T>C (n.1940+32T>C) c.2813+32T>C (n.2813+32T>C) c.2852+32T>C (n.2852+32T>C) c.2768+32T>C (n.2768+32T>C) c.2798+32T>C (n.2798+32T>C) c.2876+32T>C (n.2876+32T>C) c.2867+32T>C (n.2867+32T>C) c.2828+32T>C (n.2828+32T>C) c.2837+32T>C (n.2837+32T>C) c.2861+32T>C (n.2861+32T>C) | dbSNP |
2 | g.50497301A>T | CA2658985156 | NRXN1 | c.2879+32T>A (n.2879+32T>A) n.855+32T>A n.1778+32T>A n.46+32T>A c.2033+32T>A (n.2033+32T>A) c.2024+32T>A (n.2024+32T>A) c.2999+32T>A (n.2999+32T>A) c.2843+32T>A (n.2843+32T>A) c.2069+32T>A (n.2069+32T>A) c.2855+32T>A (n.2855+32T>A) c.2900+32T>A (n.2900+32T>A) c.2897+32T>A (n.2897+32T>A) c.2888+32T>A (n.2888+32T>A) c.2882+32T>A (n.2882+32T>A) c.2873+32T>A (n.2873+32T>A) c.2870+32T>A (n.2870+32T>A) c.2840+32T>A (n.2840+32T>A) c.2810+32T>A (n.2810+32T>A) c.2105+32T>A (n.2105+32T>A) c.2060+32T>A (n.2060+32T>A) c.1940+32T>A (n.1940+32T>A) c.2813+32T>A (n.2813+32T>A) c.2852+32T>A (n.2852+32T>A) c.2768+32T>A (n.2768+32T>A) c.2798+32T>A (n.2798+32T>A) c.2876+32T>A (n.2876+32T>A) c.2867+32T>A (n.2867+32T>A) c.2828+32T>A (n.2828+32T>A) c.2837+32T>A (n.2837+32T>A) c.2861+32T>A (n.2861+32T>A) | gnomAD v4 |
2 | g.50497302T>C | CA1030531658 | NRXN1 | c.2879+31A>G (n.2879+31A>G) n.855+31A>G n.1778+31A>G n.46+31A>G c.2033+31A>G (n.2033+31A>G) c.2024+31A>G (n.2024+31A>G) c.2999+31A>G (n.2999+31A>G) c.2843+31A>G (n.2843+31A>G) c.2069+31A>G (n.2069+31A>G) c.2855+31A>G (n.2855+31A>G) c.2900+31A>G (n.2900+31A>G) c.2897+31A>G (n.2897+31A>G) c.2888+31A>G (n.2888+31A>G) c.2882+31A>G (n.2882+31A>G) c.2873+31A>G (n.2873+31A>G) c.2870+31A>G (n.2870+31A>G) c.2840+31A>G (n.2840+31A>G) c.2810+31A>G (n.2810+31A>G) c.2105+31A>G (n.2105+31A>G) c.2060+31A>G (n.2060+31A>G) c.1940+31A>G (n.1940+31A>G) c.2813+31A>G (n.2813+31A>G) c.2852+31A>G (n.2852+31A>G) c.2768+31A>G (n.2768+31A>G) c.2798+31A>G (n.2798+31A>G) c.2876+31A>G (n.2876+31A>G) c.2867+31A>G (n.2867+31A>G) c.2828+31A>G (n.2828+31A>G) c.2837+31A>G (n.2837+31A>G) c.2861+31A>G (n.2861+31A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.50497302T= | CA1249594701 | NRXN1 | c.2879+31A= (n.2879+31A=) n.855+31A= n.1778+31A= n.46+31A= c.2033+31A= (n.2033+31A=) c.2024+31A= (n.2024+31A=) c.2999+31A= (n.2999+31A=) c.2843+31A= (n.2843+31A=) c.2069+31A= (n.2069+31A=) c.2855+31A= (n.2855+31A=) c.2900+31A= (n.2900+31A=) c.2897+31A= (n.2897+31A=) c.2888+31A= (n.2888+31A=) c.2882+31A= (n.2882+31A=) c.2873+31A= (n.2873+31A=) c.2870+31A= (n.2870+31A=) c.2840+31A= (n.2840+31A=) c.2810+31A= (n.2810+31A=) c.2105+31A= (n.2105+31A=) c.2060+31A= (n.2060+31A=) c.1940+31A= (n.1940+31A=) c.2813+31A= (n.2813+31A=) c.2852+31A= (n.2852+31A=) c.2768+31A= (n.2768+31A=) c.2798+31A= (n.2798+31A=) c.2876+31A= (n.2876+31A=) c.2867+31A= (n.2867+31A=) c.2828+31A= (n.2828+31A=) c.2837+31A= (n.2837+31A=) c.2861+31A= (n.2861+31A=) | |
2 | g.50497306T>C | CA1249594703 | NRXN1 | c.2879+27A>G (n.2879+27A>G) n.855+27A>G n.1778+27A>G n.46+27A>G c.2033+27A>G (n.2033+27A>G) c.2024+27A>G (n.2024+27A>G) c.2999+27A>G (n.2999+27A>G) c.2843+27A>G (n.2843+27A>G) c.2069+27A>G (n.2069+27A>G) c.2855+27A>G (n.2855+27A>G) c.2900+27A>G (n.2900+27A>G) c.2897+27A>G (n.2897+27A>G) c.2888+27A>G (n.2888+27A>G) c.2882+27A>G (n.2882+27A>G) c.2873+27A>G (n.2873+27A>G) c.2870+27A>G (n.2870+27A>G) c.2840+27A>G (n.2840+27A>G) c.2810+27A>G (n.2810+27A>G) c.2105+27A>G (n.2105+27A>G) c.2060+27A>G (n.2060+27A>G) c.1940+27A>G (n.1940+27A>G) c.2813+27A>G (n.2813+27A>G) c.2852+27A>G (n.2852+27A>G) c.2768+27A>G (n.2768+27A>G) c.2798+27A>G (n.2798+27A>G) c.2876+27A>G (n.2876+27A>G) c.2867+27A>G (n.2867+27A>G) c.2828+27A>G (n.2828+27A>G) c.2837+27A>G (n.2837+27A>G) c.2861+27A>G (n.2861+27A>G) | dbSNP |
2 | g.50497306T= | CA1249594702 | NRXN1 | c.2879+27A= (n.2879+27A=) n.855+27A= n.1778+27A= n.46+27A= c.2033+27A= (n.2033+27A=) c.2024+27A= (n.2024+27A=) c.2999+27A= (n.2999+27A=) c.2843+27A= (n.2843+27A=) c.2069+27A= (n.2069+27A=) c.2855+27A= (n.2855+27A=) c.2900+27A= (n.2900+27A=) c.2897+27A= (n.2897+27A=) c.2888+27A= (n.2888+27A=) c.2882+27A= (n.2882+27A=) c.2873+27A= (n.2873+27A=) c.2870+27A= (n.2870+27A=) c.2840+27A= (n.2840+27A=) c.2810+27A= (n.2810+27A=) c.2105+27A= (n.2105+27A=) c.2060+27A= (n.2060+27A=) c.1940+27A= (n.1940+27A=) c.2813+27A= (n.2813+27A=) c.2852+27A= (n.2852+27A=) c.2768+27A= (n.2768+27A=) c.2798+27A= (n.2798+27A=) c.2876+27A= (n.2876+27A=) c.2867+27A= (n.2867+27A=) c.2828+27A= (n.2828+27A=) c.2837+27A= (n.2837+27A=) c.2861+27A= (n.2861+27A=) | |
2 | g.50497308del | CA2658985157 | NRXN1 | c.2879+27del (n.2879+27del) n.855+27del n.1778+27del n.46+27del c.2033+27del (n.2033+27del) c.2024+27del (n.2024+27del) c.2999+27del (n.2999+27del) c.2843+27del (n.2843+27del) c.2069+27del (n.2069+27del) c.2855+27del (n.2855+27del) c.2900+27del (n.2900+27del) c.2897+27del (n.2897+27del) c.2888+27del (n.2888+27del) c.2882+27del (n.2882+27del) c.2873+27del (n.2873+27del) c.2870+27del (n.2870+27del) c.2840+27del (n.2840+27del) c.2810+27del (n.2810+27del) c.2105+27del (n.2105+27del) c.2060+27del (n.2060+27del) c.1940+27del (n.1940+27del) c.2813+27del (n.2813+27del) c.2852+27del (n.2852+27del) c.2768+27del (n.2768+27del) c.2798+27del (n.2798+27del) c.2876+27del (n.2876+27del) c.2867+27del (n.2867+27del) c.2828+27del (n.2828+27del) c.2837+27del (n.2837+27del) c.2861+27del (n.2861+27del) | gnomAD v4 |
2 | g.50497307T>G | CA2658985158 | NRXN1 | c.2879+26A>C (n.2879+26A>C) n.855+26A>C n.1778+26A>C n.46+26A>C c.2033+26A>C (n.2033+26A>C) c.2024+26A>C (n.2024+26A>C) c.2999+26A>C (n.2999+26A>C) c.2843+26A>C (n.2843+26A>C) c.2069+26A>C (n.2069+26A>C) c.2855+26A>C (n.2855+26A>C) c.2900+26A>C (n.2900+26A>C) c.2897+26A>C (n.2897+26A>C) c.2888+26A>C (n.2888+26A>C) c.2882+26A>C (n.2882+26A>C) c.2873+26A>C (n.2873+26A>C) c.2870+26A>C (n.2870+26A>C) c.2840+26A>C (n.2840+26A>C) c.2810+26A>C (n.2810+26A>C) c.2105+26A>C (n.2105+26A>C) c.2060+26A>C (n.2060+26A>C) c.1940+26A>C (n.1940+26A>C) c.2813+26A>C (n.2813+26A>C) c.2852+26A>C (n.2852+26A>C) c.2768+26A>C (n.2768+26A>C) c.2798+26A>C (n.2798+26A>C) c.2876+26A>C (n.2876+26A>C) c.2867+26A>C (n.2867+26A>C) c.2828+26A>C (n.2828+26A>C) c.2837+26A>C (n.2837+26A>C) c.2861+26A>C (n.2861+26A>C) | gnomAD v4 |
2 | g.50497308T>C | CA1030531666 | NRXN1 | c.2879+25A>G (n.2879+25A>G) n.855+25A>G n.1778+25A>G n.46+25A>G c.2033+25A>G (n.2033+25A>G) c.2024+25A>G (n.2024+25A>G) c.2999+25A>G (n.2999+25A>G) c.2843+25A>G (n.2843+25A>G) c.2069+25A>G (n.2069+25A>G) c.2855+25A>G (n.2855+25A>G) c.2900+25A>G (n.2900+25A>G) c.2897+25A>G (n.2897+25A>G) c.2888+25A>G (n.2888+25A>G) c.2882+25A>G (n.2882+25A>G) c.2873+25A>G (n.2873+25A>G) c.2870+25A>G (n.2870+25A>G) c.2840+25A>G (n.2840+25A>G) c.2810+25A>G (n.2810+25A>G) c.2105+25A>G (n.2105+25A>G) c.2060+25A>G (n.2060+25A>G) c.1940+25A>G (n.1940+25A>G) c.2813+25A>G (n.2813+25A>G) c.2852+25A>G (n.2852+25A>G) c.2768+25A>G (n.2768+25A>G) c.2798+25A>G (n.2798+25A>G) c.2876+25A>G (n.2876+25A>G) c.2867+25A>G (n.2867+25A>G) c.2828+25A>G (n.2828+25A>G) c.2837+25A>G (n.2837+25A>G) c.2861+25A>G (n.2861+25A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.50497308T= | CA1249594704 | NRXN1 | c.2879+25A= (n.2879+25A=) n.855+25A= n.1778+25A= n.46+25A= c.2033+25A= (n.2033+25A=) c.2024+25A= (n.2024+25A=) c.2999+25A= (n.2999+25A=) c.2843+25A= (n.2843+25A=) c.2069+25A= (n.2069+25A=) c.2855+25A= (n.2855+25A=) c.2900+25A= (n.2900+25A=) c.2897+25A= (n.2897+25A=) c.2888+25A= (n.2888+25A=) c.2882+25A= (n.2882+25A=) c.2873+25A= (n.2873+25A=) c.2870+25A= (n.2870+25A=) c.2840+25A= (n.2840+25A=) c.2810+25A= (n.2810+25A=) c.2105+25A= (n.2105+25A=) c.2060+25A= (n.2060+25A=) c.1940+25A= (n.1940+25A=) c.2813+25A= (n.2813+25A=) c.2852+25A= (n.2852+25A=) c.2768+25A= (n.2768+25A=) c.2798+25A= (n.2798+25A=) c.2876+25A= (n.2876+25A=) c.2867+25A= (n.2867+25A=) c.2828+25A= (n.2828+25A=) c.2837+25A= (n.2837+25A=) c.2861+25A= (n.2861+25A=) | |
2 | g.50497309G>A | CA1654717 | NRXN1 | c.2879+24C>T (n.2879+24C>T) n.855+24C>T n.1778+24C>T n.46+24C>T c.2033+24C>T (n.2033+24C>T) c.2024+24C>T (n.2024+24C>T) c.2999+24C>T (n.2999+24C>T) c.2843+24C>T (n.2843+24C>T) c.2069+24C>T (n.2069+24C>T) c.2855+24C>T (n.2855+24C>T) c.2900+24C>T (n.2900+24C>T) c.2897+24C>T (n.2897+24C>T) c.2888+24C>T (n.2888+24C>T) c.2882+24C>T (n.2882+24C>T) c.2873+24C>T (n.2873+24C>T) c.2870+24C>T (n.2870+24C>T) c.2840+24C>T (n.2840+24C>T) c.2810+24C>T (n.2810+24C>T) c.2105+24C>T (n.2105+24C>T) c.2060+24C>T (n.2060+24C>T) c.1940+24C>T (n.1940+24C>T) c.2813+24C>T (n.2813+24C>T) c.2852+24C>T (n.2852+24C>T) c.2768+24C>T (n.2768+24C>T) c.2798+24C>T (n.2798+24C>T) c.2876+24C>T (n.2876+24C>T) c.2867+24C>T (n.2867+24C>T) c.2828+24C>T (n.2828+24C>T) c.2837+24C>T (n.2837+24C>T) c.2861+24C>T (n.2861+24C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.50497309G= | CA1249594705 | NRXN1 | c.2879+24C= (n.2879+24C=) n.855+24C= n.1778+24C= n.46+24C= c.2033+24C= (n.2033+24C=) c.2024+24C= (n.2024+24C=) c.2999+24C= (n.2999+24C=) c.2843+24C= (n.2843+24C=) c.2069+24C= (n.2069+24C=) c.2855+24C= (n.2855+24C=) c.2900+24C= (n.2900+24C=) c.2897+24C= (n.2897+24C=) c.2888+24C= (n.2888+24C=) c.2882+24C= (n.2882+24C=) c.2873+24C= (n.2873+24C=) c.2870+24C= (n.2870+24C=) c.2840+24C= (n.2840+24C=) c.2810+24C= (n.2810+24C=) c.2105+24C= (n.2105+24C=) c.2060+24C= (n.2060+24C=) c.1940+24C= (n.1940+24C=) c.2813+24C= (n.2813+24C=) c.2852+24C= (n.2852+24C=) c.2768+24C= (n.2768+24C=) c.2798+24C= (n.2798+24C=) c.2876+24C= (n.2876+24C=) c.2867+24C= (n.2867+24C=) c.2828+24C= (n.2828+24C=) c.2837+24C= (n.2837+24C=) c.2861+24C= (n.2861+24C=) | |
2 | g.50497309G>T | CA2658985159 | NRXN1 | c.2879+24C>A (n.2879+24C>A) n.855+24C>A n.1778+24C>A n.46+24C>A c.2033+24C>A (n.2033+24C>A) c.2024+24C>A (n.2024+24C>A) c.2999+24C>A (n.2999+24C>A) c.2843+24C>A (n.2843+24C>A) c.2069+24C>A (n.2069+24C>A) c.2855+24C>A (n.2855+24C>A) c.2900+24C>A (n.2900+24C>A) c.2897+24C>A (n.2897+24C>A) c.2888+24C>A (n.2888+24C>A) c.2882+24C>A (n.2882+24C>A) c.2873+24C>A (n.2873+24C>A) c.2870+24C>A (n.2870+24C>A) c.2840+24C>A (n.2840+24C>A) c.2810+24C>A (n.2810+24C>A) c.2105+24C>A (n.2105+24C>A) c.2060+24C>A (n.2060+24C>A) c.1940+24C>A (n.1940+24C>A) c.2813+24C>A (n.2813+24C>A) c.2852+24C>A (n.2852+24C>A) c.2768+24C>A (n.2768+24C>A) c.2798+24C>A (n.2798+24C>A) c.2876+24C>A (n.2876+24C>A) c.2867+24C>A (n.2867+24C>A) c.2828+24C>A (n.2828+24C>A) c.2837+24C>A (n.2837+24C>A) c.2861+24C>A (n.2861+24C>A) | gnomAD v4 |
2 | g.50497310C>A | CA47360404 | NRXN1 | c.2879+23G>T (n.2879+23G>T) n.855+23G>T n.1778+23G>T n.46+23G>T c.2033+23G>T (n.2033+23G>T) c.2024+23G>T (n.2024+23G>T) c.2999+23G>T (n.2999+23G>T) c.2843+23G>T (n.2843+23G>T) c.2069+23G>T (n.2069+23G>T) c.2855+23G>T (n.2855+23G>T) c.2900+23G>T (n.2900+23G>T) c.2897+23G>T (n.2897+23G>T) c.2888+23G>T (n.2888+23G>T) c.2882+23G>T (n.2882+23G>T) c.2873+23G>T (n.2873+23G>T) c.2870+23G>T (n.2870+23G>T) c.2840+23G>T (n.2840+23G>T) c.2810+23G>T (n.2810+23G>T) c.2105+23G>T (n.2105+23G>T) c.2060+23G>T (n.2060+23G>T) c.1940+23G>T (n.1940+23G>T) c.2813+23G>T (n.2813+23G>T) c.2852+23G>T (n.2852+23G>T) c.2768+23G>T (n.2768+23G>T) c.2798+23G>T (n.2798+23G>T) c.2876+23G>T (n.2876+23G>T) c.2867+23G>T (n.2867+23G>T) c.2828+23G>T (n.2828+23G>T) c.2837+23G>T (n.2837+23G>T) c.2861+23G>T (n.2861+23G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.50497310C= | CA1249594706 | NRXN1 | c.2879+23G= (n.2879+23G=) n.855+23G= n.1778+23G= n.46+23G= c.2033+23G= (n.2033+23G=) c.2024+23G= (n.2024+23G=) c.2999+23G= (n.2999+23G=) c.2843+23G= (n.2843+23G=) c.2069+23G= (n.2069+23G=) c.2855+23G= (n.2855+23G=) c.2900+23G= (n.2900+23G=) c.2897+23G= (n.2897+23G=) c.2888+23G= (n.2888+23G=) c.2882+23G= (n.2882+23G=) c.2873+23G= (n.2873+23G=) c.2870+23G= (n.2870+23G=) c.2840+23G= (n.2840+23G=) c.2810+23G= (n.2810+23G=) c.2105+23G= (n.2105+23G=) c.2060+23G= (n.2060+23G=) c.1940+23G= (n.1940+23G=) c.2813+23G= (n.2813+23G=) c.2852+23G= (n.2852+23G=) c.2768+23G= (n.2768+23G=) c.2798+23G= (n.2798+23G=) c.2876+23G= (n.2876+23G=) c.2867+23G= (n.2867+23G=) c.2828+23G= (n.2828+23G=) c.2837+23G= (n.2837+23G=) c.2861+23G= (n.2861+23G=) | |
2 | g.50497310C>G | CA532386540 | NRXN1 | c.2879+23G>C (n.2879+23G>C) n.855+23G>C n.1778+23G>C n.46+23G>C c.2033+23G>C (n.2033+23G>C) c.2024+23G>C (n.2024+23G>C) c.2999+23G>C (n.2999+23G>C) c.2843+23G>C (n.2843+23G>C) c.2069+23G>C (n.2069+23G>C) c.2855+23G>C (n.2855+23G>C) c.2900+23G>C (n.2900+23G>C) c.2897+23G>C (n.2897+23G>C) c.2888+23G>C (n.2888+23G>C) c.2882+23G>C (n.2882+23G>C) c.2873+23G>C (n.2873+23G>C) c.2870+23G>C (n.2870+23G>C) c.2840+23G>C (n.2840+23G>C) c.2810+23G>C (n.2810+23G>C) c.2105+23G>C (n.2105+23G>C) c.2060+23G>C (n.2060+23G>C) c.1940+23G>C (n.1940+23G>C) c.2813+23G>C (n.2813+23G>C) c.2852+23G>C (n.2852+23G>C) c.2768+23G>C (n.2768+23G>C) c.2798+23G>C (n.2798+23G>C) c.2876+23G>C (n.2876+23G>C) c.2867+23G>C (n.2867+23G>C) c.2828+23G>C (n.2828+23G>C) c.2837+23G>C (n.2837+23G>C) c.2861+23G>C (n.2861+23G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.50497310C>T | CA2658985160 | NRXN1 | c.2879+23G>A (n.2879+23G>A) n.855+23G>A n.1778+23G>A n.46+23G>A c.2033+23G>A (n.2033+23G>A) c.2024+23G>A (n.2024+23G>A) c.2999+23G>A (n.2999+23G>A) c.2843+23G>A (n.2843+23G>A) c.2069+23G>A (n.2069+23G>A) c.2855+23G>A (n.2855+23G>A) c.2900+23G>A (n.2900+23G>A) c.2897+23G>A (n.2897+23G>A) c.2888+23G>A (n.2888+23G>A) c.2882+23G>A (n.2882+23G>A) c.2873+23G>A (n.2873+23G>A) c.2870+23G>A (n.2870+23G>A) c.2840+23G>A (n.2840+23G>A) c.2810+23G>A (n.2810+23G>A) c.2105+23G>A (n.2105+23G>A) c.2060+23G>A (n.2060+23G>A) c.1940+23G>A (n.1940+23G>A) c.2813+23G>A (n.2813+23G>A) c.2852+23G>A (n.2852+23G>A) c.2768+23G>A (n.2768+23G>A) c.2798+23G>A (n.2798+23G>A) c.2876+23G>A (n.2876+23G>A) c.2867+23G>A (n.2867+23G>A) c.2828+23G>A (n.2828+23G>A) c.2837+23G>A (n.2837+23G>A) c.2861+23G>A (n.2861+23G>A) | gnomAD v4 |
2 | g.50497311T>C | CA2658985161 | NRXN1 | c.2879+22A>G (n.2879+22A>G) n.855+22A>G n.1778+22A>G n.46+22A>G c.2033+22A>G (n.2033+22A>G) c.2024+22A>G (n.2024+22A>G) c.2999+22A>G (n.2999+22A>G) c.2843+22A>G (n.2843+22A>G) c.2069+22A>G (n.2069+22A>G) c.2855+22A>G (n.2855+22A>G) c.2900+22A>G (n.2900+22A>G) c.2897+22A>G (n.2897+22A>G) c.2888+22A>G (n.2888+22A>G) c.2882+22A>G (n.2882+22A>G) c.2873+22A>G (n.2873+22A>G) c.2870+22A>G (n.2870+22A>G) c.2840+22A>G (n.2840+22A>G) c.2810+22A>G (n.2810+22A>G) c.2105+22A>G (n.2105+22A>G) c.2060+22A>G (n.2060+22A>G) c.1940+22A>G (n.1940+22A>G) c.2813+22A>G (n.2813+22A>G) c.2852+22A>G (n.2852+22A>G) c.2768+22A>G (n.2768+22A>G) c.2798+22A>G (n.2798+22A>G) c.2876+22A>G (n.2876+22A>G) c.2867+22A>G (n.2867+22A>G) c.2828+22A>G (n.2828+22A>G) c.2837+22A>G (n.2837+22A>G) c.2861+22A>G (n.2861+22A>G) | gnomAD v4 |
2 | g.50497312A>G | CA2658985162 | NRXN1 | c.2879+21T>C (n.2879+21T>C) n.855+21T>C n.1778+21T>C n.46+21T>C c.2033+21T>C (n.2033+21T>C) c.2024+21T>C (n.2024+21T>C) c.2999+21T>C (n.2999+21T>C) c.2843+21T>C (n.2843+21T>C) c.2069+21T>C (n.2069+21T>C) c.2855+21T>C (n.2855+21T>C) c.2900+21T>C (n.2900+21T>C) c.2897+21T>C (n.2897+21T>C) c.2888+21T>C (n.2888+21T>C) c.2882+21T>C (n.2882+21T>C) c.2873+21T>C (n.2873+21T>C) c.2870+21T>C (n.2870+21T>C) c.2840+21T>C (n.2840+21T>C) c.2810+21T>C (n.2810+21T>C) c.2105+21T>C (n.2105+21T>C) c.2060+21T>C (n.2060+21T>C) c.1940+21T>C (n.1940+21T>C) c.2813+21T>C (n.2813+21T>C) c.2852+21T>C (n.2852+21T>C) c.2768+21T>C (n.2768+21T>C) c.2798+21T>C (n.2798+21T>C) c.2876+21T>C (n.2876+21T>C) c.2867+21T>C (n.2867+21T>C) c.2828+21T>C (n.2828+21T>C) c.2837+21T>C (n.2837+21T>C) c.2861+21T>C (n.2861+21T>C) | gnomAD v4 |
2 | g.50497313T>A | CA2658985163 | NRXN1 | c.2879+20A>T (n.2879+20A>T) n.855+20A>T n.1778+20A>T n.46+20A>T c.2033+20A>T (n.2033+20A>T) c.2024+20A>T (n.2024+20A>T) c.2999+20A>T (n.2999+20A>T) c.2843+20A>T (n.2843+20A>T) c.2069+20A>T (n.2069+20A>T) c.2855+20A>T (n.2855+20A>T) c.2900+20A>T (n.2900+20A>T) c.2897+20A>T (n.2897+20A>T) c.2888+20A>T (n.2888+20A>T) c.2882+20A>T (n.2882+20A>T) c.2873+20A>T (n.2873+20A>T) c.2870+20A>T (n.2870+20A>T) c.2840+20A>T (n.2840+20A>T) c.2810+20A>T (n.2810+20A>T) c.2105+20A>T (n.2105+20A>T) c.2060+20A>T (n.2060+20A>T) c.1940+20A>T (n.1940+20A>T) c.2813+20A>T (n.2813+20A>T) c.2852+20A>T (n.2852+20A>T) c.2768+20A>T (n.2768+20A>T) c.2798+20A>T (n.2798+20A>T) c.2876+20A>T (n.2876+20A>T) c.2867+20A>T (n.2867+20A>T) c.2828+20A>T (n.2828+20A>T) c.2837+20A>T (n.2837+20A>T) c.2861+20A>T (n.2861+20A>T) | gnomAD v4 |
2 | g.50497313T>C | CA292604 | NRXN1 | c.2879+20A>G (n.2879+20A>G) n.855+20A>G n.1778+20A>G n.46+20A>G c.2033+20A>G (n.2033+20A>G) c.2024+20A>G (n.2024+20A>G) c.2999+20A>G (n.2999+20A>G) c.2843+20A>G (n.2843+20A>G) c.2069+20A>G (n.2069+20A>G) c.2855+20A>G (n.2855+20A>G) c.2900+20A>G (n.2900+20A>G) c.2897+20A>G (n.2897+20A>G) c.2888+20A>G (n.2888+20A>G) c.2882+20A>G (n.2882+20A>G) c.2873+20A>G (n.2873+20A>G) c.2870+20A>G (n.2870+20A>G) c.2840+20A>G (n.2840+20A>G) c.2810+20A>G (n.2810+20A>G) c.2105+20A>G (n.2105+20A>G) c.2060+20A>G (n.2060+20A>G) c.1940+20A>G (n.1940+20A>G) c.2813+20A>G (n.2813+20A>G) c.2852+20A>G (n.2852+20A>G) c.2768+20A>G (n.2768+20A>G) c.2798+20A>G (n.2798+20A>G) c.2876+20A>G (n.2876+20A>G) c.2867+20A>G (n.2867+20A>G) c.2828+20A>G (n.2828+20A>G) c.2837+20A>G (n.2837+20A>G) c.2861+20A>G (n.2861+20A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.50497313T= | CA1249594707 | NRXN1 | c.2879+20A= (n.2879+20A=) n.855+20A= n.1778+20A= n.46+20A= c.2033+20A= (n.2033+20A=) c.2024+20A= (n.2024+20A=) c.2999+20A= (n.2999+20A=) c.2843+20A= (n.2843+20A=) c.2069+20A= (n.2069+20A=) c.2855+20A= (n.2855+20A=) c.2900+20A= (n.2900+20A=) c.2897+20A= (n.2897+20A=) c.2888+20A= (n.2888+20A=) c.2882+20A= (n.2882+20A=) c.2873+20A= (n.2873+20A=) c.2870+20A= (n.2870+20A=) c.2840+20A= (n.2840+20A=) c.2810+20A= (n.2810+20A=) c.2105+20A= (n.2105+20A=) c.2060+20A= (n.2060+20A=) c.1940+20A= (n.1940+20A=) c.2813+20A= (n.2813+20A=) c.2852+20A= (n.2852+20A=) c.2768+20A= (n.2768+20A=) c.2798+20A= (n.2798+20A=) c.2876+20A= (n.2876+20A=) c.2867+20A= (n.2867+20A=) c.2828+20A= (n.2828+20A=) c.2837+20A= (n.2837+20A=) c.2861+20A= (n.2861+20A=) | |
2 | g.50497314T>A | CA2573134960 | NRXN1 | c.2879+19A>T (n.2879+19A>T) n.855+19A>T n.1778+19A>T n.46+19A>T c.2033+19A>T (n.2033+19A>T) c.2024+19A>T (n.2024+19A>T) c.2999+19A>T (n.2999+19A>T) c.2843+19A>T (n.2843+19A>T) c.2069+19A>T (n.2069+19A>T) c.2855+19A>T (n.2855+19A>T) c.2900+19A>T (n.2900+19A>T) c.2897+19A>T (n.2897+19A>T) c.2888+19A>T (n.2888+19A>T) c.2882+19A>T (n.2882+19A>T) c.2873+19A>T (n.2873+19A>T) c.2870+19A>T (n.2870+19A>T) c.2840+19A>T (n.2840+19A>T) c.2810+19A>T (n.2810+19A>T) c.2105+19A>T (n.2105+19A>T) c.2060+19A>T (n.2060+19A>T) c.1940+19A>T (n.1940+19A>T) c.2813+19A>T (n.2813+19A>T) c.2852+19A>T (n.2852+19A>T) c.2768+19A>T (n.2768+19A>T) c.2798+19A>T (n.2798+19A>T) c.2876+19A>T (n.2876+19A>T) c.2867+19A>T (n.2867+19A>T) c.2828+19A>T (n.2828+19A>T) c.2837+19A>T (n.2837+19A>T) c.2861+19A>T (n.2861+19A>T) | ClinVar dbSNP gnomAD v4 |
2 | g.50497314T>G | CA1654718 | NRXN1 | c.2879+19A>C (n.2879+19A>C) n.855+19A>C n.1778+19A>C n.46+19A>C c.2033+19A>C (n.2033+19A>C) c.2024+19A>C (n.2024+19A>C) c.2999+19A>C (n.2999+19A>C) c.2843+19A>C (n.2843+19A>C) c.2069+19A>C (n.2069+19A>C) c.2855+19A>C (n.2855+19A>C) c.2900+19A>C (n.2900+19A>C) c.2897+19A>C (n.2897+19A>C) c.2888+19A>C (n.2888+19A>C) c.2882+19A>C (n.2882+19A>C) c.2873+19A>C (n.2873+19A>C) c.2870+19A>C (n.2870+19A>C) c.2840+19A>C (n.2840+19A>C) c.2810+19A>C (n.2810+19A>C) c.2105+19A>C (n.2105+19A>C) c.2060+19A>C (n.2060+19A>C) c.1940+19A>C (n.1940+19A>C) c.2813+19A>C (n.2813+19A>C) c.2852+19A>C (n.2852+19A>C) c.2768+19A>C (n.2768+19A>C) c.2798+19A>C (n.2798+19A>C) c.2876+19A>C (n.2876+19A>C) c.2867+19A>C (n.2867+19A>C) c.2828+19A>C (n.2828+19A>C) c.2837+19A>C (n.2837+19A>C) c.2861+19A>C (n.2861+19A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.50497314T= | CA1249594708 | NRXN1 | c.2879+19A= (n.2879+19A=) n.855+19A= n.1778+19A= n.46+19A= c.2033+19A= (n.2033+19A=) c.2024+19A= (n.2024+19A=) c.2999+19A= (n.2999+19A=) c.2843+19A= (n.2843+19A=) c.2069+19A= (n.2069+19A=) c.2855+19A= (n.2855+19A=) c.2900+19A= (n.2900+19A=) c.2897+19A= (n.2897+19A=) c.2888+19A= (n.2888+19A=) c.2882+19A= (n.2882+19A=) c.2873+19A= (n.2873+19A=) c.2870+19A= (n.2870+19A=) c.2840+19A= (n.2840+19A=) c.2810+19A= (n.2810+19A=) c.2105+19A= (n.2105+19A=) c.2060+19A= (n.2060+19A=) c.1940+19A= (n.1940+19A=) c.2813+19A= (n.2813+19A=) c.2852+19A= (n.2852+19A=) c.2768+19A= (n.2768+19A=) c.2798+19A= (n.2798+19A=) c.2876+19A= (n.2876+19A=) c.2867+19A= (n.2867+19A=) c.2828+19A= (n.2828+19A=) c.2837+19A= (n.2837+19A=) c.2861+19A= (n.2861+19A=) | |
2 | g.50497315G>A | CA2573134961 | NRXN1 | c.2879+18C>T (n.2879+18C>T) n.855+18C>T n.1778+18C>T n.46+18C>T c.2033+18C>T (n.2033+18C>T) c.2024+18C>T (n.2024+18C>T) c.2999+18C>T (n.2999+18C>T) c.2843+18C>T (n.2843+18C>T) c.2069+18C>T (n.2069+18C>T) c.2855+18C>T (n.2855+18C>T) c.2900+18C>T (n.2900+18C>T) c.2897+18C>T (n.2897+18C>T) c.2888+18C>T (n.2888+18C>T) c.2882+18C>T (n.2882+18C>T) c.2873+18C>T (n.2873+18C>T) c.2870+18C>T (n.2870+18C>T) c.2840+18C>T (n.2840+18C>T) c.2810+18C>T (n.2810+18C>T) c.2105+18C>T (n.2105+18C>T) c.2060+18C>T (n.2060+18C>T) c.1940+18C>T (n.1940+18C>T) c.2813+18C>T (n.2813+18C>T) c.2852+18C>T (n.2852+18C>T) c.2768+18C>T (n.2768+18C>T) c.2798+18C>T (n.2798+18C>T) c.2876+18C>T (n.2876+18C>T) c.2867+18C>T (n.2867+18C>T) c.2828+18C>T (n.2828+18C>T) c.2837+18C>T (n.2837+18C>T) c.2861+18C>T (n.2861+18C>T) | ClinVar dbSNP |
2 | g.50497315G>C | CA2658985164 | NRXN1 | c.2879+18C>G (n.2879+18C>G) n.855+18C>G n.1778+18C>G n.46+18C>G c.2033+18C>G (n.2033+18C>G) c.2024+18C>G (n.2024+18C>G) c.2999+18C>G (n.2999+18C>G) c.2843+18C>G (n.2843+18C>G) c.2069+18C>G (n.2069+18C>G) c.2855+18C>G (n.2855+18C>G) c.2900+18C>G (n.2900+18C>G) c.2897+18C>G (n.2897+18C>G) c.2888+18C>G (n.2888+18C>G) c.2882+18C>G (n.2882+18C>G) c.2873+18C>G (n.2873+18C>G) c.2870+18C>G (n.2870+18C>G) c.2840+18C>G (n.2840+18C>G) c.2810+18C>G (n.2810+18C>G) c.2105+18C>G (n.2105+18C>G) c.2060+18C>G (n.2060+18C>G) c.1940+18C>G (n.1940+18C>G) c.2813+18C>G (n.2813+18C>G) c.2852+18C>G (n.2852+18C>G) c.2768+18C>G (n.2768+18C>G) c.2798+18C>G (n.2798+18C>G) c.2876+18C>G (n.2876+18C>G) c.2867+18C>G (n.2867+18C>G) c.2828+18C>G (n.2828+18C>G) c.2837+18C>G (n.2837+18C>G) c.2861+18C>G (n.2861+18C>G) | gnomAD v4 |
2 | g.50497315G>T | CA2658985165 | NRXN1 | c.2879+18C>A (n.2879+18C>A) n.855+18C>A n.1778+18C>A n.46+18C>A c.2033+18C>A (n.2033+18C>A) c.2024+18C>A (n.2024+18C>A) c.2999+18C>A (n.2999+18C>A) c.2843+18C>A (n.2843+18C>A) c.2069+18C>A (n.2069+18C>A) c.2855+18C>A (n.2855+18C>A) c.2900+18C>A (n.2900+18C>A) c.2897+18C>A (n.2897+18C>A) c.2888+18C>A (n.2888+18C>A) c.2882+18C>A (n.2882+18C>A) c.2873+18C>A (n.2873+18C>A) c.2870+18C>A (n.2870+18C>A) c.2840+18C>A (n.2840+18C>A) c.2810+18C>A (n.2810+18C>A) c.2105+18C>A (n.2105+18C>A) c.2060+18C>A (n.2060+18C>A) c.1940+18C>A (n.1940+18C>A) c.2813+18C>A (n.2813+18C>A) c.2852+18C>A (n.2852+18C>A) c.2768+18C>A (n.2768+18C>A) c.2798+18C>A (n.2798+18C>A) c.2876+18C>A (n.2876+18C>A) c.2867+18C>A (n.2867+18C>A) c.2828+18C>A (n.2828+18C>A) c.2837+18C>A (n.2837+18C>A) c.2861+18C>A (n.2861+18C>A) | gnomAD v4 |
2 | g.50497317A>G | CA2573134962 | NRXN1 | c.2879+16T>C (n.2879+16T>C) n.855+16T>C n.1778+16T>C n.46+16T>C c.2033+16T>C (n.2033+16T>C) c.2024+16T>C (n.2024+16T>C) c.2999+16T>C (n.2999+16T>C) c.2843+16T>C (n.2843+16T>C) c.2069+16T>C (n.2069+16T>C) c.2855+16T>C (n.2855+16T>C) c.2900+16T>C (n.2900+16T>C) c.2897+16T>C (n.2897+16T>C) c.2888+16T>C (n.2888+16T>C) c.2882+16T>C (n.2882+16T>C) c.2873+16T>C (n.2873+16T>C) c.2870+16T>C (n.2870+16T>C) c.2840+16T>C (n.2840+16T>C) c.2810+16T>C (n.2810+16T>C) c.2105+16T>C (n.2105+16T>C) c.2060+16T>C (n.2060+16T>C) c.1940+16T>C (n.1940+16T>C) c.2813+16T>C (n.2813+16T>C) c.2852+16T>C (n.2852+16T>C) c.2768+16T>C (n.2768+16T>C) c.2798+16T>C (n.2798+16T>C) c.2876+16T>C (n.2876+16T>C) c.2867+16T>C (n.2867+16T>C) c.2828+16T>C (n.2828+16T>C) c.2837+16T>C (n.2837+16T>C) c.2861+16T>C (n.2861+16T>C) | ClinVar dbSNP |
2 | g.50497318C>A | CA2576964693 | NRXN1 | c.2879+15G>T (n.2879+15G>T) n.855+15G>T n.1778+15G>T n.46+15G>T c.2033+15G>T (n.2033+15G>T) c.2024+15G>T (n.2024+15G>T) c.2999+15G>T (n.2999+15G>T) c.2843+15G>T (n.2843+15G>T) c.2069+15G>T (n.2069+15G>T) c.2855+15G>T (n.2855+15G>T) c.2900+15G>T (n.2900+15G>T) c.2897+15G>T (n.2897+15G>T) c.2888+15G>T (n.2888+15G>T) c.2882+15G>T (n.2882+15G>T) c.2873+15G>T (n.2873+15G>T) c.2870+15G>T (n.2870+15G>T) c.2840+15G>T (n.2840+15G>T) c.2810+15G>T (n.2810+15G>T) c.2105+15G>T (n.2105+15G>T) c.2060+15G>T (n.2060+15G>T) c.1940+15G>T (n.1940+15G>T) c.2813+15G>T (n.2813+15G>T) c.2852+15G>T (n.2852+15G>T) c.2768+15G>T (n.2768+15G>T) c.2798+15G>T (n.2798+15G>T) c.2876+15G>T (n.2876+15G>T) c.2867+15G>T (n.2867+15G>T) c.2828+15G>T (n.2828+15G>T) c.2837+15G>T (n.2837+15G>T) c.2861+15G>T (n.2861+15G>T) | gnomAD v4 |
2 | g.50497320G>A | CA2576964694 | NRXN1 | c.2879+13C>T (n.2879+13C>T) n.855+13C>T n.1778+13C>T n.46+13C>T c.2033+13C>T (n.2033+13C>T) c.2024+13C>T (n.2024+13C>T) c.2999+13C>T (n.2999+13C>T) c.2843+13C>T (n.2843+13C>T) c.2069+13C>T (n.2069+13C>T) c.2855+13C>T (n.2855+13C>T) c.2900+13C>T (n.2900+13C>T) c.2897+13C>T (n.2897+13C>T) c.2888+13C>T (n.2888+13C>T) c.2882+13C>T (n.2882+13C>T) c.2873+13C>T (n.2873+13C>T) c.2870+13C>T (n.2870+13C>T) c.2840+13C>T (n.2840+13C>T) c.2810+13C>T (n.2810+13C>T) c.2105+13C>T (n.2105+13C>T) c.2060+13C>T (n.2060+13C>T) c.1940+13C>T (n.1940+13C>T) c.2813+13C>T (n.2813+13C>T) c.2852+13C>T (n.2852+13C>T) c.2768+13C>T (n.2768+13C>T) c.2798+13C>T (n.2798+13C>T) c.2876+13C>T (n.2876+13C>T) c.2867+13C>T (n.2867+13C>T) c.2828+13C>T (n.2828+13C>T) c.2837+13C>T (n.2837+13C>T) c.2861+13C>T (n.2861+13C>T) | |
2 | g.50497321del | CA2841056791 | NRXN1 | c.2879+13del (n.2879+13del) n.855+13del n.1778+13del n.46+13del c.2033+13del (n.2033+13del) c.2024+13del (n.2024+13del) c.2999+13del (n.2999+13del) c.2843+13del (n.2843+13del) c.2069+13del (n.2069+13del) c.2855+13del (n.2855+13del) c.2900+13del (n.2900+13del) c.2897+13del (n.2897+13del) c.2888+13del (n.2888+13del) c.2882+13del (n.2882+13del) c.2873+13del (n.2873+13del) c.2870+13del (n.2870+13del) c.2840+13del (n.2840+13del) c.2810+13del (n.2810+13del) c.2105+13del (n.2105+13del) c.2060+13del (n.2060+13del) c.1940+13del (n.1940+13del) c.2813+13del (n.2813+13del) c.2852+13del (n.2852+13del) c.2768+13del (n.2768+13del) c.2798+13del (n.2798+13del) c.2876+13del (n.2876+13del) c.2867+13del (n.2867+13del) c.2828+13del (n.2828+13del) c.2837+13del (n.2837+13del) c.2861+13del (n.2861+13del) | |
2 | g.50497321G>A | CA1654719 | NRXN1 | c.2879+12C>T (n.2879+12C>T) n.855+12C>T n.1778+12C>T n.46+12C>T c.2033+12C>T (n.2033+12C>T) c.2024+12C>T (n.2024+12C>T) c.2999+12C>T (n.2999+12C>T) c.2843+12C>T (n.2843+12C>T) c.2069+12C>T (n.2069+12C>T) c.2855+12C>T (n.2855+12C>T) c.2900+12C>T (n.2900+12C>T) c.2897+12C>T (n.2897+12C>T) c.2888+12C>T (n.2888+12C>T) c.2882+12C>T (n.2882+12C>T) c.2873+12C>T (n.2873+12C>T) c.2870+12C>T (n.2870+12C>T) c.2840+12C>T (n.2840+12C>T) c.2810+12C>T (n.2810+12C>T) c.2105+12C>T (n.2105+12C>T) c.2060+12C>T (n.2060+12C>T) c.1940+12C>T (n.1940+12C>T) c.2813+12C>T (n.2813+12C>T) c.2852+12C>T (n.2852+12C>T) c.2768+12C>T (n.2768+12C>T) c.2798+12C>T (n.2798+12C>T) c.2876+12C>T (n.2876+12C>T) c.2867+12C>T (n.2867+12C>T) c.2828+12C>T (n.2828+12C>T) c.2837+12C>T (n.2837+12C>T) c.2861+12C>T (n.2861+12C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.50497321G= | CA1249594709 | NRXN1 | c.2879+12C= (n.2879+12C=) n.855+12C= n.1778+12C= n.46+12C= c.2033+12C= (n.2033+12C=) c.2024+12C= (n.2024+12C=) c.2999+12C= (n.2999+12C=) c.2843+12C= (n.2843+12C=) c.2069+12C= (n.2069+12C=) c.2855+12C= (n.2855+12C=) c.2900+12C= (n.2900+12C=) c.2897+12C= (n.2897+12C=) c.2888+12C= (n.2888+12C=) c.2882+12C= (n.2882+12C=) c.2873+12C= (n.2873+12C=) c.2870+12C= (n.2870+12C=) c.2840+12C= (n.2840+12C=) c.2810+12C= (n.2810+12C=) c.2105+12C= (n.2105+12C=) c.2060+12C= (n.2060+12C=) c.1940+12C= (n.1940+12C=) c.2813+12C= (n.2813+12C=) c.2852+12C= (n.2852+12C=) c.2768+12C= (n.2768+12C=) c.2798+12C= (n.2798+12C=) c.2876+12C= (n.2876+12C=) c.2867+12C= (n.2867+12C=) c.2828+12C= (n.2828+12C=) c.2837+12C= (n.2837+12C=) c.2861+12C= (n.2861+12C=) | |
2 | g.50497321G>T | CA2658985166 | NRXN1 | c.2879+12C>A (n.2879+12C>A) n.855+12C>A n.1778+12C>A n.46+12C>A c.2033+12C>A (n.2033+12C>A) c.2024+12C>A (n.2024+12C>A) c.2999+12C>A (n.2999+12C>A) c.2843+12C>A (n.2843+12C>A) c.2069+12C>A (n.2069+12C>A) c.2855+12C>A (n.2855+12C>A) c.2900+12C>A (n.2900+12C>A) c.2897+12C>A (n.2897+12C>A) c.2888+12C>A (n.2888+12C>A) c.2882+12C>A (n.2882+12C>A) c.2873+12C>A (n.2873+12C>A) c.2870+12C>A (n.2870+12C>A) c.2840+12C>A (n.2840+12C>A) c.2810+12C>A (n.2810+12C>A) c.2105+12C>A (n.2105+12C>A) c.2060+12C>A (n.2060+12C>A) c.1940+12C>A (n.1940+12C>A) c.2813+12C>A (n.2813+12C>A) c.2852+12C>A (n.2852+12C>A) c.2768+12C>A (n.2768+12C>A) c.2798+12C>A (n.2798+12C>A) c.2876+12C>A (n.2876+12C>A) c.2867+12C>A (n.2867+12C>A) c.2828+12C>A (n.2828+12C>A) c.2837+12C>A (n.2837+12C>A) c.2861+12C>A (n.2861+12C>A) | gnomAD v4 |
2 | g.50497322C>A | CA1654720 | NRXN1 | c.2879+11G>T (n.2879+11G>T) n.855+11G>T n.1778+11G>T n.46+11G>T c.2033+11G>T (n.2033+11G>T) c.2024+11G>T (n.2024+11G>T) c.2999+11G>T (n.2999+11G>T) c.2843+11G>T (n.2843+11G>T) c.2069+11G>T (n.2069+11G>T) c.2855+11G>T (n.2855+11G>T) c.2900+11G>T (n.2900+11G>T) c.2897+11G>T (n.2897+11G>T) c.2888+11G>T (n.2888+11G>T) c.2882+11G>T (n.2882+11G>T) c.2873+11G>T (n.2873+11G>T) c.2870+11G>T (n.2870+11G>T) c.2840+11G>T (n.2840+11G>T) c.2810+11G>T (n.2810+11G>T) c.2105+11G>T (n.2105+11G>T) c.2060+11G>T (n.2060+11G>T) c.1940+11G>T (n.1940+11G>T) c.2813+11G>T (n.2813+11G>T) c.2852+11G>T (n.2852+11G>T) c.2768+11G>T (n.2768+11G>T) c.2798+11G>T (n.2798+11G>T) c.2876+11G>T (n.2876+11G>T) c.2867+11G>T (n.2867+11G>T) c.2828+11G>T (n.2828+11G>T) c.2837+11G>T (n.2837+11G>T) c.2861+11G>T (n.2861+11G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.50497322C= | CA1249594710 | NRXN1 | c.2879+11G= (n.2879+11G=) n.855+11G= n.1778+11G= n.46+11G= c.2033+11G= (n.2033+11G=) c.2024+11G= (n.2024+11G=) c.2999+11G= (n.2999+11G=) c.2843+11G= (n.2843+11G=) c.2069+11G= (n.2069+11G=) c.2855+11G= (n.2855+11G=) c.2900+11G= (n.2900+11G=) c.2897+11G= (n.2897+11G=) c.2888+11G= (n.2888+11G=) c.2882+11G= (n.2882+11G=) c.2873+11G= (n.2873+11G=) c.2870+11G= (n.2870+11G=) c.2840+11G= (n.2840+11G=) c.2810+11G= (n.2810+11G=) c.2105+11G= (n.2105+11G=) c.2060+11G= (n.2060+11G=) c.1940+11G= (n.1940+11G=) c.2813+11G= (n.2813+11G=) c.2852+11G= (n.2852+11G=) c.2768+11G= (n.2768+11G=) c.2798+11G= (n.2798+11G=) c.2876+11G= (n.2876+11G=) c.2867+11G= (n.2867+11G=) c.2828+11G= (n.2828+11G=) c.2837+11G= (n.2837+11G=) c.2861+11G= (n.2861+11G=) | |
2 | g.50497322C>T | CA2658985167 | NRXN1 | c.2879+11G>A (n.2879+11G>A) n.855+11G>A n.1778+11G>A n.46+11G>A c.2033+11G>A (n.2033+11G>A) c.2024+11G>A (n.2024+11G>A) c.2999+11G>A (n.2999+11G>A) c.2843+11G>A (n.2843+11G>A) c.2069+11G>A (n.2069+11G>A) c.2855+11G>A (n.2855+11G>A) c.2900+11G>A (n.2900+11G>A) c.2897+11G>A (n.2897+11G>A) c.2888+11G>A (n.2888+11G>A) c.2882+11G>A (n.2882+11G>A) c.2873+11G>A (n.2873+11G>A) c.2870+11G>A (n.2870+11G>A) c.2840+11G>A (n.2840+11G>A) c.2810+11G>A (n.2810+11G>A) c.2105+11G>A (n.2105+11G>A) c.2060+11G>A (n.2060+11G>A) c.1940+11G>A (n.1940+11G>A) c.2813+11G>A (n.2813+11G>A) c.2852+11G>A (n.2852+11G>A) c.2768+11G>A (n.2768+11G>A) c.2798+11G>A (n.2798+11G>A) c.2876+11G>A (n.2876+11G>A) c.2867+11G>A (n.2867+11G>A) c.2828+11G>A (n.2828+11G>A) c.2837+11G>A (n.2837+11G>A) c.2861+11G>A (n.2861+11G>A) | gnomAD v4 |
2 | g.50497323A= | CA1249594711 | NRXN1 | c.2879+10T= (n.2879+10T=) n.855+10T= n.1778+10T= n.46+10T= c.2033+10T= (n.2033+10T=) c.2024+10T= (n.2024+10T=) c.2999+10T= (n.2999+10T=) c.2843+10T= (n.2843+10T=) c.2069+10T= (n.2069+10T=) c.2855+10T= (n.2855+10T=) c.2900+10T= (n.2900+10T=) c.2897+10T= (n.2897+10T=) c.2888+10T= (n.2888+10T=) c.2882+10T= (n.2882+10T=) c.2873+10T= (n.2873+10T=) c.2870+10T= (n.2870+10T=) c.2840+10T= (n.2840+10T=) c.2810+10T= (n.2810+10T=) c.2105+10T= (n.2105+10T=) c.2060+10T= (n.2060+10T=) c.1940+10T= (n.1940+10T=) c.2813+10T= (n.2813+10T=) c.2852+10T= (n.2852+10T=) c.2768+10T= (n.2768+10T=) c.2798+10T= (n.2798+10T=) c.2876+10T= (n.2876+10T=) c.2867+10T= (n.2867+10T=) c.2828+10T= (n.2828+10T=) c.2837+10T= (n.2837+10T=) c.2861+10T= (n.2861+10T=) | |
2 | g.50497323A>G | CA1654721 | NRXN1 | c.2879+10T>C (n.2879+10T>C) n.855+10T>C n.1778+10T>C n.46+10T>C c.2033+10T>C (n.2033+10T>C) c.2024+10T>C (n.2024+10T>C) c.2999+10T>C (n.2999+10T>C) c.2843+10T>C (n.2843+10T>C) c.2069+10T>C (n.2069+10T>C) c.2855+10T>C (n.2855+10T>C) c.2900+10T>C (n.2900+10T>C) c.2897+10T>C (n.2897+10T>C) c.2888+10T>C (n.2888+10T>C) c.2882+10T>C (n.2882+10T>C) c.2873+10T>C (n.2873+10T>C) c.2870+10T>C (n.2870+10T>C) c.2840+10T>C (n.2840+10T>C) c.2810+10T>C (n.2810+10T>C) c.2105+10T>C (n.2105+10T>C) c.2060+10T>C (n.2060+10T>C) c.1940+10T>C (n.1940+10T>C) c.2813+10T>C (n.2813+10T>C) c.2852+10T>C (n.2852+10T>C) c.2768+10T>C (n.2768+10T>C) c.2798+10T>C (n.2798+10T>C) c.2876+10T>C (n.2876+10T>C) c.2867+10T>C (n.2867+10T>C) c.2828+10T>C (n.2828+10T>C) c.2837+10T>C (n.2837+10T>C) c.2861+10T>C (n.2861+10T>C) | dbSNP ExAC |
2 | g.50497324T>C | CA2658985168 | NRXN1 | c.2879+9A>G (n.2879+9A>G) n.855+9A>G n.1778+9A>G n.46+9A>G c.2033+9A>G (n.2033+9A>G) c.2024+9A>G (n.2024+9A>G) c.2999+9A>G (n.2999+9A>G) c.2843+9A>G (n.2843+9A>G) c.2069+9A>G (n.2069+9A>G) c.2855+9A>G (n.2855+9A>G) c.2900+9A>G (n.2900+9A>G) c.2897+9A>G (n.2897+9A>G) c.2888+9A>G (n.2888+9A>G) c.2882+9A>G (n.2882+9A>G) c.2873+9A>G (n.2873+9A>G) c.2870+9A>G (n.2870+9A>G) c.2840+9A>G (n.2840+9A>G) c.2810+9A>G (n.2810+9A>G) c.2105+9A>G (n.2105+9A>G) c.2060+9A>G (n.2060+9A>G) c.1940+9A>G (n.1940+9A>G) c.2813+9A>G (n.2813+9A>G) c.2852+9A>G (n.2852+9A>G) c.2768+9A>G (n.2768+9A>G) c.2798+9A>G (n.2798+9A>G) c.2876+9A>G (n.2876+9A>G) c.2867+9A>G (n.2867+9A>G) c.2828+9A>G (n.2828+9A>G) c.2837+9A>G (n.2837+9A>G) c.2861+9A>G (n.2861+9A>G) | gnomAD v4 |
2 | g.50497324T>G | CA2658985169 | NRXN1 | c.2879+9A>C (n.2879+9A>C) n.855+9A>C n.1778+9A>C n.46+9A>C c.2033+9A>C (n.2033+9A>C) c.2024+9A>C (n.2024+9A>C) c.2999+9A>C (n.2999+9A>C) c.2843+9A>C (n.2843+9A>C) c.2069+9A>C (n.2069+9A>C) c.2855+9A>C (n.2855+9A>C) c.2900+9A>C (n.2900+9A>C) c.2897+9A>C (n.2897+9A>C) c.2888+9A>C (n.2888+9A>C) c.2882+9A>C (n.2882+9A>C) c.2873+9A>C (n.2873+9A>C) c.2870+9A>C (n.2870+9A>C) c.2840+9A>C (n.2840+9A>C) c.2810+9A>C (n.2810+9A>C) c.2105+9A>C (n.2105+9A>C) c.2060+9A>C (n.2060+9A>C) c.1940+9A>C (n.1940+9A>C) c.2813+9A>C (n.2813+9A>C) c.2852+9A>C (n.2852+9A>C) c.2768+9A>C (n.2768+9A>C) c.2798+9A>C (n.2798+9A>C) c.2876+9A>C (n.2876+9A>C) c.2867+9A>C (n.2867+9A>C) c.2828+9A>C (n.2828+9A>C) c.2837+9A>C (n.2837+9A>C) c.2861+9A>C (n.2861+9A>C) | gnomAD v4 |
2 | g.50497325G>A | CA1654722 | NRXN1 | c.2879+8C>T (n.2879+8C>T) n.855+8C>T n.1778+8C>T n.46+8C>T c.2033+8C>T (n.2033+8C>T) c.2024+8C>T (n.2024+8C>T) c.2999+8C>T (n.2999+8C>T) c.2843+8C>T (n.2843+8C>T) c.2069+8C>T (n.2069+8C>T) c.2855+8C>T (n.2855+8C>T) c.2900+8C>T (n.2900+8C>T) c.2897+8C>T (n.2897+8C>T) c.2888+8C>T (n.2888+8C>T) c.2882+8C>T (n.2882+8C>T) c.2873+8C>T (n.2873+8C>T) c.2870+8C>T (n.2870+8C>T) c.2840+8C>T (n.2840+8C>T) c.2810+8C>T (n.2810+8C>T) c.2105+8C>T (n.2105+8C>T) c.2060+8C>T (n.2060+8C>T) c.1940+8C>T (n.1940+8C>T) c.2813+8C>T (n.2813+8C>T) c.2852+8C>T (n.2852+8C>T) c.2768+8C>T (n.2768+8C>T) c.2798+8C>T (n.2798+8C>T) c.2876+8C>T (n.2876+8C>T) c.2867+8C>T (n.2867+8C>T) c.2828+8C>T (n.2828+8C>T) c.2837+8C>T (n.2837+8C>T) c.2861+8C>T (n.2861+8C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.50497325G= | CA1249594712 | NRXN1 | c.2879+8C= (n.2879+8C=) n.855+8C= n.1778+8C= n.46+8C= c.2033+8C= (n.2033+8C=) c.2024+8C= (n.2024+8C=) c.2999+8C= (n.2999+8C=) c.2843+8C= (n.2843+8C=) c.2069+8C= (n.2069+8C=) c.2855+8C= (n.2855+8C=) c.2900+8C= (n.2900+8C=) c.2897+8C= (n.2897+8C=) c.2888+8C= (n.2888+8C=) c.2882+8C= (n.2882+8C=) c.2873+8C= (n.2873+8C=) c.2870+8C= (n.2870+8C=) c.2840+8C= (n.2840+8C=) c.2810+8C= (n.2810+8C=) c.2105+8C= (n.2105+8C=) c.2060+8C= (n.2060+8C=) c.1940+8C= (n.1940+8C=) c.2813+8C= (n.2813+8C=) c.2852+8C= (n.2852+8C=) c.2768+8C= (n.2768+8C=) c.2798+8C= (n.2798+8C=) c.2876+8C= (n.2876+8C=) c.2867+8C= (n.2867+8C=) c.2828+8C= (n.2828+8C=) c.2837+8C= (n.2837+8C=) c.2861+8C= (n.2861+8C=) | |
2 | g.50497325G>T | CA2658985170 | NRXN1 | c.2879+8C>A (n.2879+8C>A) n.855+8C>A n.1778+8C>A n.46+8C>A c.2033+8C>A (n.2033+8C>A) c.2024+8C>A (n.2024+8C>A) c.2999+8C>A (n.2999+8C>A) c.2843+8C>A (n.2843+8C>A) c.2069+8C>A (n.2069+8C>A) c.2855+8C>A (n.2855+8C>A) c.2900+8C>A (n.2900+8C>A) c.2897+8C>A (n.2897+8C>A) c.2888+8C>A (n.2888+8C>A) c.2882+8C>A (n.2882+8C>A) c.2873+8C>A (n.2873+8C>A) c.2870+8C>A (n.2870+8C>A) c.2840+8C>A (n.2840+8C>A) c.2810+8C>A (n.2810+8C>A) c.2105+8C>A (n.2105+8C>A) c.2060+8C>A (n.2060+8C>A) c.1940+8C>A (n.1940+8C>A) c.2813+8C>A (n.2813+8C>A) c.2852+8C>A (n.2852+8C>A) c.2768+8C>A (n.2768+8C>A) c.2798+8C>A (n.2798+8C>A) c.2876+8C>A (n.2876+8C>A) c.2867+8C>A (n.2867+8C>A) c.2828+8C>A (n.2828+8C>A) c.2837+8C>A (n.2837+8C>A) c.2861+8C>A (n.2861+8C>A) | gnomAD v4 |
2 | g.50497326T>A | CA2658985171 | NRXN1 | c.2879+7A>T (n.2879+7A>T) n.855+7A>T n.1778+7A>T n.46+7A>T c.2033+7A>T (n.2033+7A>T) c.2024+7A>T (n.2024+7A>T) c.2999+7A>T (n.2999+7A>T) c.2843+7A>T (n.2843+7A>T) c.2069+7A>T (n.2069+7A>T) c.2855+7A>T (n.2855+7A>T) c.2900+7A>T (n.2900+7A>T) c.2897+7A>T (n.2897+7A>T) c.2888+7A>T (n.2888+7A>T) c.2882+7A>T (n.2882+7A>T) c.2873+7A>T (n.2873+7A>T) c.2870+7A>T (n.2870+7A>T) c.2840+7A>T (n.2840+7A>T) c.2810+7A>T (n.2810+7A>T) c.2105+7A>T (n.2105+7A>T) c.2060+7A>T (n.2060+7A>T) c.1940+7A>T (n.1940+7A>T) c.2813+7A>T (n.2813+7A>T) c.2852+7A>T (n.2852+7A>T) c.2768+7A>T (n.2768+7A>T) c.2798+7A>T (n.2798+7A>T) c.2876+7A>T (n.2876+7A>T) c.2867+7A>T (n.2867+7A>T) c.2828+7A>T (n.2828+7A>T) c.2837+7A>T (n.2837+7A>T) c.2861+7A>T (n.2861+7A>T) | ClinVar gnomAD v4 |
2 | g.50497326T>C | CA221533 | NRXN1 | c.2879+7A>G (n.2879+7A>G) n.855+7A>G n.1778+7A>G n.46+7A>G c.2033+7A>G (n.2033+7A>G) c.2024+7A>G (n.2024+7A>G) c.2999+7A>G (n.2999+7A>G) c.2843+7A>G (n.2843+7A>G) c.2069+7A>G (n.2069+7A>G) c.2855+7A>G (n.2855+7A>G) c.2900+7A>G (n.2900+7A>G) c.2897+7A>G (n.2897+7A>G) c.2888+7A>G (n.2888+7A>G) c.2882+7A>G (n.2882+7A>G) c.2873+7A>G (n.2873+7A>G) c.2870+7A>G (n.2870+7A>G) c.2840+7A>G (n.2840+7A>G) c.2810+7A>G (n.2810+7A>G) c.2105+7A>G (n.2105+7A>G) c.2060+7A>G (n.2060+7A>G) c.1940+7A>G (n.1940+7A>G) c.2813+7A>G (n.2813+7A>G) c.2852+7A>G (n.2852+7A>G) c.2768+7A>G (n.2768+7A>G) c.2798+7A>G (n.2798+7A>G) c.2876+7A>G (n.2876+7A>G) c.2867+7A>G (n.2867+7A>G) c.2828+7A>G (n.2828+7A>G) c.2837+7A>G (n.2837+7A>G) c.2861+7A>G (n.2861+7A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.50497326T= | CA1249594713 | NRXN1 | c.2879+7A= (n.2879+7A=) n.855+7A= n.1778+7A= n.46+7A= c.2033+7A= (n.2033+7A=) c.2024+7A= (n.2024+7A=) c.2999+7A= (n.2999+7A=) c.2843+7A= (n.2843+7A=) c.2069+7A= (n.2069+7A=) c.2855+7A= (n.2855+7A=) c.2900+7A= (n.2900+7A=) c.2897+7A= (n.2897+7A=) c.2888+7A= (n.2888+7A=) c.2882+7A= (n.2882+7A=) c.2873+7A= (n.2873+7A=) c.2870+7A= (n.2870+7A=) c.2840+7A= (n.2840+7A=) c.2810+7A= (n.2810+7A=) c.2105+7A= (n.2105+7A=) c.2060+7A= (n.2060+7A=) c.1940+7A= (n.1940+7A=) c.2813+7A= (n.2813+7A=) c.2852+7A= (n.2852+7A=) c.2768+7A= (n.2768+7A=) c.2798+7A= (n.2798+7A=) c.2876+7A= (n.2876+7A=) c.2867+7A= (n.2867+7A=) c.2828+7A= (n.2828+7A=) c.2837+7A= (n.2837+7A=) c.2861+7A= (n.2861+7A=) | |
2 | g.50497327A= | CA1249594714 | NRXN1 | c.2879+6T= (n.2879+6T=) n.855+6T= n.1778+6T= n.46+6T= c.2033+6T= (n.2033+6T=) c.2024+6T= (n.2024+6T=) c.2999+6T= (n.2999+6T=) c.2843+6T= (n.2843+6T=) c.2069+6T= (n.2069+6T=) c.2855+6T= (n.2855+6T=) c.2900+6T= (n.2900+6T=) c.2897+6T= (n.2897+6T=) c.2888+6T= (n.2888+6T=) c.2882+6T= (n.2882+6T=) c.2873+6T= (n.2873+6T=) c.2870+6T= (n.2870+6T=) c.2840+6T= (n.2840+6T=) c.2810+6T= (n.2810+6T=) c.2105+6T= (n.2105+6T=) c.2060+6T= (n.2060+6T=) c.1940+6T= (n.1940+6T=) c.2813+6T= (n.2813+6T=) c.2852+6T= (n.2852+6T=) c.2768+6T= (n.2768+6T=) c.2798+6T= (n.2798+6T=) c.2876+6T= (n.2876+6T=) c.2867+6T= (n.2867+6T=) c.2828+6T= (n.2828+6T=) c.2837+6T= (n.2837+6T=) c.2861+6T= (n.2861+6T=) | |
2 | g.50497327A>G | CA532386560 | NRXN1 | c.2879+6T>C (n.2879+6T>C) n.855+6T>C n.1778+6T>C n.46+6T>C c.2033+6T>C (n.2033+6T>C) c.2024+6T>C (n.2024+6T>C) c.2999+6T>C (n.2999+6T>C) c.2843+6T>C (n.2843+6T>C) c.2069+6T>C (n.2069+6T>C) c.2855+6T>C (n.2855+6T>C) c.2900+6T>C (n.2900+6T>C) c.2897+6T>C (n.2897+6T>C) c.2888+6T>C (n.2888+6T>C) c.2882+6T>C (n.2882+6T>C) c.2873+6T>C (n.2873+6T>C) c.2870+6T>C (n.2870+6T>C) c.2840+6T>C (n.2840+6T>C) c.2810+6T>C (n.2810+6T>C) c.2105+6T>C (n.2105+6T>C) c.2060+6T>C (n.2060+6T>C) c.1940+6T>C (n.1940+6T>C) c.2813+6T>C (n.2813+6T>C) c.2852+6T>C (n.2852+6T>C) c.2768+6T>C (n.2768+6T>C) c.2798+6T>C (n.2798+6T>C) c.2876+6T>C (n.2876+6T>C) c.2867+6T>C (n.2867+6T>C) c.2828+6T>C (n.2828+6T>C) c.2837+6T>C (n.2837+6T>C) c.2861+6T>C (n.2861+6T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.50497328C>A | CA2658985172 | NRXN1 | c.2879+5G>T (n.2879+5G>T) n.855+5G>T n.1778+5G>T n.46+5G>T c.2033+5G>T (n.2033+5G>T) c.2024+5G>T (n.2024+5G>T) c.2999+5G>T (n.2999+5G>T) c.2843+5G>T (n.2843+5G>T) c.2069+5G>T (n.2069+5G>T) c.2855+5G>T (n.2855+5G>T) c.2900+5G>T (n.2900+5G>T) c.2897+5G>T (n.2897+5G>T) c.2888+5G>T (n.2888+5G>T) c.2882+5G>T (n.2882+5G>T) c.2873+5G>T (n.2873+5G>T) c.2870+5G>T (n.2870+5G>T) c.2840+5G>T (n.2840+5G>T) c.2810+5G>T (n.2810+5G>T) c.2105+5G>T (n.2105+5G>T) c.2060+5G>T (n.2060+5G>T) c.1940+5G>T (n.1940+5G>T) c.2813+5G>T (n.2813+5G>T) c.2852+5G>T (n.2852+5G>T) c.2768+5G>T (n.2768+5G>T) c.2798+5G>T (n.2798+5G>T) c.2876+5G>T (n.2876+5G>T) c.2867+5G>T (n.2867+5G>T) c.2828+5G>T (n.2828+5G>T) c.2837+5G>T (n.2837+5G>T) c.2861+5G>T (n.2861+5G>T) | gnomAD v4 |
2 | g.50497330C>A | CA2658985173 | NRXN1 | c.2879+3G>T (n.2879+3G>T) n.855+3G>T n.1778+3G>T n.46+3G>T c.2033+3G>T (n.2033+3G>T) c.2024+3G>T (n.2024+3G>T) c.2999+3G>T (n.2999+3G>T) c.2843+3G>T (n.2843+3G>T) c.2069+3G>T (n.2069+3G>T) c.2855+3G>T (n.2855+3G>T) c.2900+3G>T (n.2900+3G>T) c.2897+3G>T (n.2897+3G>T) c.2888+3G>T (n.2888+3G>T) c.2882+3G>T (n.2882+3G>T) c.2873+3G>T (n.2873+3G>T) c.2870+3G>T (n.2870+3G>T) c.2840+3G>T (n.2840+3G>T) c.2810+3G>T (n.2810+3G>T) c.2105+3G>T (n.2105+3G>T) c.2060+3G>T (n.2060+3G>T) c.1940+3G>T (n.1940+3G>T) c.2813+3G>T (n.2813+3G>T) c.2852+3G>T (n.2852+3G>T) c.2768+3G>T (n.2768+3G>T) c.2798+3G>T (n.2798+3G>T) c.2876+3G>T (n.2876+3G>T) c.2867+3G>T (n.2867+3G>T) c.2828+3G>T (n.2828+3G>T) c.2837+3G>T (n.2837+3G>T) c.2861+3G>T (n.2861+3G>T) | gnomAD v4 |
2 | g.50497330C= | CA1249594715 | NRXN1 | c.2879+3G= (n.2879+3G=) n.855+3G= n.1778+3G= n.46+3G= c.2033+3G= (n.2033+3G=) c.2024+3G= (n.2024+3G=) c.2999+3G= (n.2999+3G=) c.2843+3G= (n.2843+3G=) c.2069+3G= (n.2069+3G=) c.2855+3G= (n.2855+3G=) c.2900+3G= (n.2900+3G=) c.2897+3G= (n.2897+3G=) c.2888+3G= (n.2888+3G=) c.2882+3G= (n.2882+3G=) c.2873+3G= (n.2873+3G=) c.2870+3G= (n.2870+3G=) c.2840+3G= (n.2840+3G=) c.2810+3G= (n.2810+3G=) c.2105+3G= (n.2105+3G=) c.2060+3G= (n.2060+3G=) c.1940+3G= (n.1940+3G=) c.2813+3G= (n.2813+3G=) c.2852+3G= (n.2852+3G=) c.2768+3G= (n.2768+3G=) c.2798+3G= (n.2798+3G=) c.2876+3G= (n.2876+3G=) c.2867+3G= (n.2867+3G=) c.2828+3G= (n.2828+3G=) c.2837+3G= (n.2837+3G=) c.2861+3G= (n.2861+3G=) | |
2 | g.50497330C>T | CA1654723 | NRXN1 | c.2879+3G>A (n.2879+3G>A) n.855+3G>A n.1778+3G>A n.46+3G>A c.2033+3G>A (n.2033+3G>A) c.2024+3G>A (n.2024+3G>A) c.2999+3G>A (n.2999+3G>A) c.2843+3G>A (n.2843+3G>A) c.2069+3G>A (n.2069+3G>A) c.2855+3G>A (n.2855+3G>A) c.2900+3G>A (n.2900+3G>A) c.2897+3G>A (n.2897+3G>A) c.2888+3G>A (n.2888+3G>A) c.2882+3G>A (n.2882+3G>A) c.2873+3G>A (n.2873+3G>A) c.2870+3G>A (n.2870+3G>A) c.2840+3G>A (n.2840+3G>A) c.2810+3G>A (n.2810+3G>A) c.2105+3G>A (n.2105+3G>A) c.2060+3G>A (n.2060+3G>A) c.1940+3G>A (n.1940+3G>A) c.2813+3G>A (n.2813+3G>A) c.2852+3G>A (n.2852+3G>A) c.2768+3G>A (n.2768+3G>A) c.2798+3G>A (n.2798+3G>A) c.2876+3G>A (n.2876+3G>A) c.2867+3G>A (n.2867+3G>A) c.2828+3G>A (n.2828+3G>A) c.2837+3G>A (n.2837+3G>A) c.2861+3G>A (n.2861+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.50497331A>C | CA346776666 | NRXN1 | c.2879+2T>G (n.2879+2T>G) n.855+2T>G n.1778+2T>G n.46+2T>G c.2033+2T>G (n.2033+2T>G) c.2024+2T>G (n.2024+2T>G) c.2999+2T>G (n.2999+2T>G) c.2843+2T>G (n.2843+2T>G) c.2069+2T>G (n.2069+2T>G) c.2855+2T>G (n.2855+2T>G) c.2900+2T>G (n.2900+2T>G) c.2897+2T>G (n.2897+2T>G) c.2888+2T>G (n.2888+2T>G) c.2882+2T>G (n.2882+2T>G) c.2873+2T>G (n.2873+2T>G) c.2870+2T>G (n.2870+2T>G) c.2840+2T>G (n.2840+2T>G) c.2810+2T>G (n.2810+2T>G) c.2105+2T>G (n.2105+2T>G) c.2060+2T>G (n.2060+2T>G) c.1940+2T>G (n.1940+2T>G) c.2813+2T>G (n.2813+2T>G) c.2852+2T>G (n.2852+2T>G) c.2768+2T>G (n.2768+2T>G) c.2798+2T>G (n.2798+2T>G) c.2876+2T>G (n.2876+2T>G) c.2867+2T>G (n.2867+2T>G) c.2828+2T>G (n.2828+2T>G) c.2837+2T>G (n.2837+2T>G) c.2861+2T>G (n.2861+2T>G) | |
2 | g.50497331A>G | CA346776667 | NRXN1 | c.2879+2T>C (n.2879+2T>C) n.855+2T>C n.1778+2T>C n.46+2T>C c.2033+2T>C (n.2033+2T>C) c.2024+2T>C (n.2024+2T>C) c.2999+2T>C (n.2999+2T>C) c.2843+2T>C (n.2843+2T>C) c.2069+2T>C (n.2069+2T>C) c.2855+2T>C (n.2855+2T>C) c.2900+2T>C (n.2900+2T>C) c.2897+2T>C (n.2897+2T>C) c.2888+2T>C (n.2888+2T>C) c.2882+2T>C (n.2882+2T>C) c.2873+2T>C (n.2873+2T>C) c.2870+2T>C (n.2870+2T>C) c.2840+2T>C (n.2840+2T>C) c.2810+2T>C (n.2810+2T>C) c.2105+2T>C (n.2105+2T>C) c.2060+2T>C (n.2060+2T>C) c.1940+2T>C (n.1940+2T>C) c.2813+2T>C (n.2813+2T>C) c.2852+2T>C (n.2852+2T>C) c.2768+2T>C (n.2768+2T>C) c.2798+2T>C (n.2798+2T>C) c.2876+2T>C (n.2876+2T>C) c.2867+2T>C (n.2867+2T>C) c.2828+2T>C (n.2828+2T>C) c.2837+2T>C (n.2837+2T>C) c.2861+2T>C (n.2861+2T>C) | gnomAD v4 |
2 | g.50497331A>T | CA346776668 | NRXN1 | c.2879+2T>A (n.2879+2T>A) n.855+2T>A n.1778+2T>A n.46+2T>A c.2033+2T>A (n.2033+2T>A) c.2024+2T>A (n.2024+2T>A) c.2999+2T>A (n.2999+2T>A) c.2843+2T>A (n.2843+2T>A) c.2069+2T>A (n.2069+2T>A) c.2855+2T>A (n.2855+2T>A) c.2900+2T>A (n.2900+2T>A) c.2897+2T>A (n.2897+2T>A) c.2888+2T>A (n.2888+2T>A) c.2882+2T>A (n.2882+2T>A) c.2873+2T>A (n.2873+2T>A) c.2870+2T>A (n.2870+2T>A) c.2840+2T>A (n.2840+2T>A) c.2810+2T>A (n.2810+2T>A) c.2105+2T>A (n.2105+2T>A) c.2060+2T>A (n.2060+2T>A) c.1940+2T>A (n.1940+2T>A) c.2813+2T>A (n.2813+2T>A) c.2852+2T>A (n.2852+2T>A) c.2768+2T>A (n.2768+2T>A) c.2798+2T>A (n.2798+2T>A) c.2876+2T>A (n.2876+2T>A) c.2867+2T>A (n.2867+2T>A) c.2828+2T>A (n.2828+2T>A) c.2837+2T>A (n.2837+2T>A) c.2861+2T>A (n.2861+2T>A) | |
2 | g.50497332C>A | CA346776669 | NRXN1 | c.2879+1G>T (n.2879+1G>T) n.855+1G>T n.1778+1G>T n.46+1G>T c.2033+1G>T (n.2033+1G>T) c.2024+1G>T (n.2024+1G>T) c.2999+1G>T (n.2999+1G>T) c.2843+1G>T (n.2843+1G>T) c.2069+1G>T (n.2069+1G>T) c.2855+1G>T (n.2855+1G>T) c.2900+1G>T (n.2900+1G>T) c.2897+1G>T (n.2897+1G>T) c.2888+1G>T (n.2888+1G>T) c.2882+1G>T (n.2882+1G>T) c.2873+1G>T (n.2873+1G>T) c.2870+1G>T (n.2870+1G>T) c.2840+1G>T (n.2840+1G>T) c.2810+1G>T (n.2810+1G>T) c.2105+1G>T (n.2105+1G>T) c.2060+1G>T (n.2060+1G>T) c.1940+1G>T (n.1940+1G>T) c.2813+1G>T (n.2813+1G>T) c.2852+1G>T (n.2852+1G>T) c.2768+1G>T (n.2768+1G>T) c.2798+1G>T (n.2798+1G>T) c.2876+1G>T (n.2876+1G>T) c.2867+1G>T (n.2867+1G>T) c.2828+1G>T (n.2828+1G>T) c.2837+1G>T (n.2837+1G>T) c.2861+1G>T (n.2861+1G>T) | |
2 | g.50497332C= | CA1249594716 | NRXN1 | c.2879+1G= (n.2879+1G=) n.855+1G= n.1778+1G= n.46+1G= c.2033+1G= (n.2033+1G=) c.2024+1G= (n.2024+1G=) c.2999+1G= (n.2999+1G=) c.2843+1G= (n.2843+1G=) c.2069+1G= (n.2069+1G=) c.2855+1G= (n.2855+1G=) c.2900+1G= (n.2900+1G=) c.2897+1G= (n.2897+1G=) c.2888+1G= (n.2888+1G=) c.2882+1G= (n.2882+1G=) c.2873+1G= (n.2873+1G=) c.2870+1G= (n.2870+1G=) c.2840+1G= (n.2840+1G=) c.2810+1G= (n.2810+1G=) c.2105+1G= (n.2105+1G=) c.2060+1G= (n.2060+1G=) c.1940+1G= (n.1940+1G=) c.2813+1G= (n.2813+1G=) c.2852+1G= (n.2852+1G=) c.2768+1G= (n.2768+1G=) c.2798+1G= (n.2798+1G=) c.2876+1G= (n.2876+1G=) c.2867+1G= (n.2867+1G=) c.2828+1G= (n.2828+1G=) c.2837+1G= (n.2837+1G=) c.2861+1G= (n.2861+1G=) | |
2 | g.50497332C>G | CA346776670 | NRXN1 | c.2879+1G>C (n.2879+1G>C) n.855+1G>C n.1778+1G>C n.46+1G>C c.2033+1G>C (n.2033+1G>C) c.2024+1G>C (n.2024+1G>C) c.2999+1G>C (n.2999+1G>C) c.2843+1G>C (n.2843+1G>C) c.2069+1G>C (n.2069+1G>C) c.2855+1G>C (n.2855+1G>C) c.2900+1G>C (n.2900+1G>C) c.2897+1G>C (n.2897+1G>C) c.2888+1G>C (n.2888+1G>C) c.2882+1G>C (n.2882+1G>C) c.2873+1G>C (n.2873+1G>C) c.2870+1G>C (n.2870+1G>C) c.2840+1G>C (n.2840+1G>C) c.2810+1G>C (n.2810+1G>C) c.2105+1G>C (n.2105+1G>C) c.2060+1G>C (n.2060+1G>C) c.1940+1G>C (n.1940+1G>C) c.2813+1G>C (n.2813+1G>C) c.2852+1G>C (n.2852+1G>C) c.2768+1G>C (n.2768+1G>C) c.2798+1G>C (n.2798+1G>C) c.2876+1G>C (n.2876+1G>C) c.2867+1G>C (n.2867+1G>C) c.2828+1G>C (n.2828+1G>C) c.2837+1G>C (n.2837+1G>C) c.2861+1G>C (n.2861+1G>C) | |
2 | g.50497332C>T | CA346776671 | NRXN1 | c.2879+1G>A (n.2879+1G>A) n.855+1G>A n.1778+1G>A n.46+1G>A c.2033+1G>A (n.2033+1G>A) c.2024+1G>A (n.2024+1G>A) c.2999+1G>A (n.2999+1G>A) c.2843+1G>A (n.2843+1G>A) c.2069+1G>A (n.2069+1G>A) c.2855+1G>A (n.2855+1G>A) c.2900+1G>A (n.2900+1G>A) c.2897+1G>A (n.2897+1G>A) c.2888+1G>A (n.2888+1G>A) c.2882+1G>A (n.2882+1G>A) c.2873+1G>A (n.2873+1G>A) c.2870+1G>A (n.2870+1G>A) c.2840+1G>A (n.2840+1G>A) c.2810+1G>A (n.2810+1G>A) c.2105+1G>A (n.2105+1G>A) c.2060+1G>A (n.2060+1G>A) c.1940+1G>A (n.1940+1G>A) c.2813+1G>A (n.2813+1G>A) c.2852+1G>A (n.2852+1G>A) c.2768+1G>A (n.2768+1G>A) c.2798+1G>A (n.2798+1G>A) c.2876+1G>A (n.2876+1G>A) c.2867+1G>A (n.2867+1G>A) c.2828+1G>A (n.2828+1G>A) c.2837+1G>A (n.2837+1G>A) c.2861+1G>A (n.2861+1G>A) | dbSNP |
2 | g.50497332_50497333delinsAA | CA645538553 | NRXN1 | c.2879_2879+1delinsTT n.855_855+1delinsTT n.1778_1778+1delinsTT n.46_46+1delinsTT c.2033_2033+1delinsTT c.2024_2024+1delinsTT c.2999_2999+1delinsTT c.2843_2843+1delinsTT c.2069_2069+1delinsTT c.2855_2855+1delinsTT c.2900_2900+1delinsTT c.2897_2897+1delinsTT c.2888_2888+1delinsTT c.2882_2882+1delinsTT c.2873_2873+1delinsTT c.2870_2870+1delinsTT c.2840_2840+1delinsTT c.2810_2810+1delinsTT c.2105_2105+1delinsTT c.2060_2060+1delinsTT c.1940_1940+1delinsTT c.2813_2813+1delinsTT c.2852_2852+1delinsTT c.2768_2768+1delinsTT c.2798_2798+1delinsTT c.2876_2876+1delinsTT c.2867_2867+1delinsTT c.2828_2828+1delinsTT c.2837_2837+1delinsTT c.2861_2861+1delinsTT | COSMIC COSMIC COSMIC COSMIC |
2 | g.50497333C>A | CA346776672 | NRXN1 | c.2879G>T (p.Gly960Val) n.855G>T n.1778G>T n.46G>T c.2033G>T (p.Gly678Val) c.2024G>T (p.Gly675Val) c.2999G>T (p.Gly1000Val) c.2843G>T (p.Gly948Val) c.2069G>T (p.Gly690Val) c.2855G>T (p.Gly952Val) c.2900G>T (p.Gly967Val) c.2897G>T (p.Gly966Val) c.2888G>T (p.Gly963Val) c.2882G>T (p.Gly961Val) c.2873G>T (p.Gly958Val) c.2870G>T (p.Gly957Val) c.2840G>T (p.Gly947Val) c.2810G>T (p.Gly937Val) c.2105G>T (p.Gly702Val) c.2060G>T (p.Gly687Val) c.1940G>T (p.Gly647Val) c.2813G>T (p.Gly938Val) c.2852G>T (p.Gly951Val) c.2768G>T (p.Gly923Val) c.2798G>T (p.Gly933Val) c.2876G>T (p.Gly959Val) c.2867G>T (p.Gly956Val) c.2828G>T (p.Gly943Val) c.2837G>T (p.Gly946Val) c.2861G>T (p.Gly954Val) | gnomAD v4 |
2 | g.50497333C>G | CA346776674 | NRXN1 | c.2879G>C (p.Gly960Ala) n.855G>C n.1778G>C n.46G>C c.2033G>C (p.Gly678Ala) c.2024G>C (p.Gly675Ala) c.2999G>C (p.Gly1000Ala) c.2843G>C (p.Gly948Ala) c.2069G>C (p.Gly690Ala) c.2855G>C (p.Gly952Ala) c.2900G>C (p.Gly967Ala) c.2897G>C (p.Gly966Ala) c.2888G>C (p.Gly963Ala) c.2882G>C (p.Gly961Ala) c.2873G>C (p.Gly958Ala) c.2870G>C (p.Gly957Ala) c.2840G>C (p.Gly947Ala) c.2810G>C (p.Gly937Ala) c.2105G>C (p.Gly702Ala) c.2060G>C (p.Gly687Ala) c.1940G>C (p.Gly647Ala) c.2813G>C (p.Gly938Ala) c.2852G>C (p.Gly951Ala) c.2768G>C (p.Gly923Ala) c.2798G>C (p.Gly933Ala) c.2876G>C (p.Gly959Ala) c.2867G>C (p.Gly956Ala) c.2828G>C (p.Gly943Ala) c.2837G>C (p.Gly946Ala) c.2861G>C (p.Gly954Ala) | |
2 | g.50497333C>T | CA346776673 | NRXN1 | c.2879G>A (p.Gly960Glu) n.855G>A n.1778G>A n.46G>A c.2033G>A (p.Gly678Glu) c.2024G>A (p.Gly675Glu) c.2999G>A (p.Gly1000Glu) c.2843G>A (p.Gly948Glu) c.2069G>A (p.Gly690Glu) c.2855G>A (p.Gly952Glu) c.2900G>A (p.Gly967Glu) c.2897G>A (p.Gly966Glu) c.2888G>A (p.Gly963Glu) c.2882G>A (p.Gly961Glu) c.2873G>A (p.Gly958Glu) c.2870G>A (p.Gly957Glu) c.2840G>A (p.Gly947Glu) c.2810G>A (p.Gly937Glu) c.2105G>A (p.Gly702Glu) c.2060G>A (p.Gly687Glu) c.1940G>A (p.Gly647Glu) c.2813G>A (p.Gly938Glu) c.2852G>A (p.Gly951Glu) c.2768G>A (p.Gly923Glu) c.2798G>A (p.Gly933Glu) c.2876G>A (p.Gly959Glu) c.2867G>A (p.Gly956Glu) c.2828G>A (p.Gly943Glu) c.2837G>A (p.Gly946Glu) c.2861G>A (p.Gly954Glu) | |
2 | g.50497334C>A | CA346776675 | NRXN1 | c.2878G>T (p.Gly960Trp) n.854G>T n.1777G>T n.45G>T c.2032G>T (p.Gly678Trp) c.2023G>T (p.Gly675Trp) c.2998G>T (p.Gly1000Trp) c.2842G>T (p.Gly948Trp) c.2068G>T (p.Gly690Trp) c.2854G>T (p.Gly952Trp) c.2899G>T (p.Gly967Trp) c.2896G>T (p.Gly966Trp) c.2887G>T (p.Gly963Trp) c.2881G>T (p.Gly961Trp) c.2872G>T (p.Gly958Trp) c.2869G>T (p.Gly957Trp) c.2839G>T (p.Gly947Trp) c.2809G>T (p.Gly937Trp) c.2104G>T (p.Gly702Trp) c.2059G>T (p.Gly687Trp) c.1939G>T (p.Gly647Trp) c.2812G>T (p.Gly938Trp) c.2851G>T (p.Gly951Trp) c.2767G>T (p.Gly923Trp) c.2797G>T (p.Gly933Trp) c.2875G>T (p.Gly959Trp) c.2866G>T (p.Gly956Trp) c.2827G>T (p.Gly943Trp) c.2836G>T (p.Gly946Trp) c.2860G>T (p.Gly954Trp) | |
2 | g.50497334C>G | CA346776676 | NRXN1 | c.2878G>C (p.Gly960Arg) n.854G>C n.1777G>C n.45G>C c.2032G>C (p.Gly678Arg) c.2023G>C (p.Gly675Arg) c.2998G>C (p.Gly1000Arg) c.2842G>C (p.Gly948Arg) c.2068G>C (p.Gly690Arg) c.2854G>C (p.Gly952Arg) c.2899G>C (p.Gly967Arg) c.2896G>C (p.Gly966Arg) c.2887G>C (p.Gly963Arg) c.2881G>C (p.Gly961Arg) c.2872G>C (p.Gly958Arg) c.2869G>C (p.Gly957Arg) c.2839G>C (p.Gly947Arg) c.2809G>C (p.Gly937Arg) c.2104G>C (p.Gly702Arg) c.2059G>C (p.Gly687Arg) c.1939G>C (p.Gly647Arg) c.2812G>C (p.Gly938Arg) c.2851G>C (p.Gly951Arg) c.2767G>C (p.Gly923Arg) c.2797G>C (p.Gly933Arg) c.2875G>C (p.Gly959Arg) c.2866G>C (p.Gly956Arg) c.2827G>C (p.Gly943Arg) c.2836G>C (p.Gly946Arg) c.2860G>C (p.Gly954Arg) | COSMIC COSMIC COSMIC COSMIC |
2 | g.50497334C>T | CA346776677 | NRXN1 | c.2878G>A (p.Gly960Arg) n.854G>A n.1777G>A n.45G>A c.2032G>A (p.Gly678Arg) c.2023G>A (p.Gly675Arg) c.2998G>A (p.Gly1000Arg) c.2842G>A (p.Gly948Arg) c.2068G>A (p.Gly690Arg) c.2854G>A (p.Gly952Arg) c.2899G>A (p.Gly967Arg) c.2896G>A (p.Gly966Arg) c.2887G>A (p.Gly963Arg) c.2881G>A (p.Gly961Arg) c.2872G>A (p.Gly958Arg) c.2869G>A (p.Gly957Arg) c.2839G>A (p.Gly947Arg) c.2809G>A (p.Gly937Arg) c.2104G>A (p.Gly702Arg) c.2059G>A (p.Gly687Arg) c.1939G>A (p.Gly647Arg) c.2812G>A (p.Gly938Arg) c.2851G>A (p.Gly951Arg) c.2767G>A (p.Gly923Arg) c.2797G>A (p.Gly933Arg) c.2875G>A (p.Gly959Arg) c.2866G>A (p.Gly956Arg) c.2827G>A (p.Gly943Arg) c.2836G>A (p.Gly946Arg) c.2860G>A (p.Gly954Arg) | |
2 | g.50497335T>A | CA346776678 | NRXN1 | c.2877A>T (p.Lys959Asn) n.853A>T n.1776A>T n.44A>T c.2031A>T (p.Lys677Asn) c.2022A>T (p.Lys674Asn) c.2997A>T (p.Lys999Asn) c.2841A>T (p.Lys947Asn) c.2067A>T (p.Lys689Asn) c.2853A>T (p.Lys951Asn) c.2898A>T (p.Lys966Asn) c.2895A>T (p.Lys965Asn) c.2886A>T (p.Lys962Asn) c.2880A>T (p.Lys960Asn) c.2871A>T (p.Lys957Asn) c.2868A>T (p.Lys956Asn) c.2838A>T (p.Lys946Asn) c.2808A>T (p.Lys936Asn) c.2103A>T (p.Lys701Asn) c.2058A>T (p.Lys686Asn) c.1938A>T (p.Lys646Asn) c.2811A>T (p.Lys937Asn) c.2850A>T (p.Lys950Asn) c.2766A>T (p.Lys922Asn) c.2796A>T (p.Lys932Asn) c.2874A>T (p.Lys958Asn) c.2865A>T (p.Lys955Asn) c.2826A>T (p.Lys942Asn) c.2835A>T (p.Lys945Asn) c.2859A>T (p.Lys953Asn) | |
2 | g.50497335T>C | CA426023321 | NRXN1 | c.2877A>G (p.Lys959=) n.853A>G n.1776A>G n.44A>G c.2031A>G (p.Lys677=) c.2022A>G (p.Lys674=) c.2997A>G (p.Lys999=) c.2841A>G (p.Lys947=) c.2067A>G (p.Lys689=) c.2853A>G (p.Lys951=) c.2898A>G (p.Lys966=) c.2895A>G (p.Lys965=) c.2886A>G (p.Lys962=) c.2880A>G (p.Lys960=) c.2871A>G (p.Lys957=) c.2868A>G (p.Lys956=) c.2838A>G (p.Lys946=) c.2808A>G (p.Lys936=) c.2103A>G (p.Lys701=) c.2058A>G (p.Lys686=) c.1938A>G (p.Lys646=) c.2811A>G (p.Lys937=) c.2850A>G (p.Lys950=) c.2766A>G (p.Lys922=) c.2796A>G (p.Lys932=) c.2874A>G (p.Lys958=) c.2865A>G (p.Lys955=) c.2826A>G (p.Lys942=) c.2835A>G (p.Lys945=) c.2859A>G (p.Lys953=) | |
2 | g.50497335T>G | CA346776679 | NRXN1 | c.2877A>C (p.Lys959Asn) n.853A>C n.1776A>C n.44A>C c.2031A>C (p.Lys677Asn) c.2022A>C (p.Lys674Asn) c.2997A>C (p.Lys999Asn) c.2841A>C (p.Lys947Asn) c.2067A>C (p.Lys689Asn) c.2853A>C (p.Lys951Asn) c.2898A>C (p.Lys966Asn) c.2895A>C (p.Lys965Asn) c.2886A>C (p.Lys962Asn) c.2880A>C (p.Lys960Asn) c.2871A>C (p.Lys957Asn) c.2868A>C (p.Lys956Asn) c.2838A>C (p.Lys946Asn) c.2808A>C (p.Lys936Asn) c.2103A>C (p.Lys701Asn) c.2058A>C (p.Lys686Asn) c.1938A>C (p.Lys646Asn) c.2811A>C (p.Lys937Asn) c.2850A>C (p.Lys950Asn) c.2766A>C (p.Lys922Asn) c.2796A>C (p.Lys932Asn) c.2874A>C (p.Lys958Asn) c.2865A>C (p.Lys955Asn) c.2826A>C (p.Lys942Asn) c.2835A>C (p.Lys945Asn) c.2859A>C (p.Lys953Asn) | |
2 | g.50497336T>A | CA346776680 | NRXN1 | c.2876A>T (p.Lys959Ile) n.852A>T n.1775A>T n.43A>T c.2030A>T (p.Lys677Ile) c.2021A>T (p.Lys674Ile) c.2996A>T (p.Lys999Ile) c.2840A>T (p.Lys947Ile) c.2066A>T (p.Lys689Ile) c.2852A>T (p.Lys951Ile) c.2897A>T (p.Lys966Ile) c.2894A>T (p.Lys965Ile) c.2885A>T (p.Lys962Ile) c.2879A>T (p.Lys960Ile) c.2870A>T (p.Lys957Ile) c.2867A>T (p.Lys956Ile) c.2837A>T (p.Lys946Ile) c.2807A>T (p.Lys936Ile) c.2102A>T (p.Lys701Ile) c.2057A>T (p.Lys686Ile) c.1937A>T (p.Lys646Ile) c.2810A>T (p.Lys937Ile) c.2849A>T (p.Lys950Ile) c.2765A>T (p.Lys922Ile) c.2795A>T (p.Lys932Ile) c.2873A>T (p.Lys958Ile) c.2864A>T (p.Lys955Ile) c.2825A>T (p.Lys942Ile) c.2834A>T (p.Lys945Ile) c.2858A>T (p.Lys953Ile) | |
2 | g.50497336T>C | CA346776681 | NRXN1 | c.2876A>G (p.Lys959Arg) n.852A>G n.1775A>G n.43A>G c.2030A>G (p.Lys677Arg) c.2021A>G (p.Lys674Arg) c.2996A>G (p.Lys999Arg) c.2840A>G (p.Lys947Arg) c.2066A>G (p.Lys689Arg) c.2852A>G (p.Lys951Arg) c.2897A>G (p.Lys966Arg) c.2894A>G (p.Lys965Arg) c.2885A>G (p.Lys962Arg) c.2879A>G (p.Lys960Arg) c.2870A>G (p.Lys957Arg) c.2867A>G (p.Lys956Arg) c.2837A>G (p.Lys946Arg) c.2807A>G (p.Lys936Arg) c.2102A>G (p.Lys701Arg) c.2057A>G (p.Lys686Arg) c.1937A>G (p.Lys646Arg) c.2810A>G (p.Lys937Arg) c.2849A>G (p.Lys950Arg) c.2765A>G (p.Lys922Arg) c.2795A>G (p.Lys932Arg) c.2873A>G (p.Lys958Arg) c.2864A>G (p.Lys955Arg) c.2825A>G (p.Lys942Arg) c.2834A>G (p.Lys945Arg) c.2858A>G (p.Lys953Arg) | |
2 | g.50497336T>G | CA346776682 | NRXN1 | c.2876A>C (p.Lys959Thr) n.852A>C n.1775A>C n.43A>C c.2030A>C (p.Lys677Thr) c.2021A>C (p.Lys674Thr) c.2996A>C (p.Lys999Thr) c.2840A>C (p.Lys947Thr) c.2066A>C (p.Lys689Thr) c.2852A>C (p.Lys951Thr) c.2897A>C (p.Lys966Thr) c.2894A>C (p.Lys965Thr) c.2885A>C (p.Lys962Thr) c.2879A>C (p.Lys960Thr) c.2870A>C (p.Lys957Thr) c.2867A>C (p.Lys956Thr) c.2837A>C (p.Lys946Thr) c.2807A>C (p.Lys936Thr) c.2102A>C (p.Lys701Thr) c.2057A>C (p.Lys686Thr) c.1937A>C (p.Lys646Thr) c.2810A>C (p.Lys937Thr) c.2849A>C (p.Lys950Thr) c.2765A>C (p.Lys922Thr) c.2795A>C (p.Lys932Thr) c.2873A>C (p.Lys958Thr) c.2864A>C (p.Lys955Thr) c.2825A>C (p.Lys942Thr) c.2834A>C (p.Lys945Thr) c.2858A>C (p.Lys953Thr) | |
2 | g.50497337T>A | CA346776683 | NRXN1 | c.2875A>T (p.Lys959Ter) n.851A>T n.1774A>T n.42A>T c.2029A>T (p.Lys677Ter) c.2020A>T (p.Lys674Ter) c.2995A>T (p.Lys999Ter) c.2839A>T (p.Lys947Ter) c.2065A>T (p.Lys689Ter) c.2851A>T (p.Lys951Ter) c.2896A>T (p.Lys966Ter) c.2893A>T (p.Lys965Ter) c.2884A>T (p.Lys962Ter) c.2878A>T (p.Lys960Ter) c.2869A>T (p.Lys957Ter) c.2866A>T (p.Lys956Ter) c.2836A>T (p.Lys946Ter) c.2806A>T (p.Lys936Ter) c.2101A>T (p.Lys701Ter) c.2056A>T (p.Lys686Ter) c.1936A>T (p.Lys646Ter) c.2809A>T (p.Lys937Ter) c.2848A>T (p.Lys950Ter) c.2764A>T (p.Lys922Ter) c.2794A>T (p.Lys932Ter) c.2872A>T (p.Lys958Ter) c.2863A>T (p.Lys955Ter) c.2824A>T (p.Lys942Ter) c.2833A>T (p.Lys945Ter) c.2857A>T (p.Lys953Ter) | |
2 | g.50497337T>C | CA47360462 | NRXN1 | c.2875A>G (p.Lys959Glu) n.851A>G n.1774A>G n.42A>G c.2029A>G (p.Lys677Glu) c.2020A>G (p.Lys674Glu) c.2995A>G (p.Lys999Glu) c.2839A>G (p.Lys947Glu) c.2065A>G (p.Lys689Glu) c.2851A>G (p.Lys951Glu) c.2896A>G (p.Lys966Glu) c.2893A>G (p.Lys965Glu) c.2884A>G (p.Lys962Glu) c.2878A>G (p.Lys960Glu) c.2869A>G (p.Lys957Glu) c.2866A>G (p.Lys956Glu) c.2836A>G (p.Lys946Glu) c.2806A>G (p.Lys936Glu) c.2101A>G (p.Lys701Glu) c.2056A>G (p.Lys686Glu) c.1936A>G (p.Lys646Glu) c.2809A>G (p.Lys937Glu) c.2848A>G (p.Lys950Glu) c.2764A>G (p.Lys922Glu) c.2794A>G (p.Lys932Glu) c.2872A>G (p.Lys958Glu) c.2863A>G (p.Lys955Glu) c.2824A>G (p.Lys942Glu) c.2833A>G (p.Lys945Glu) c.2857A>G (p.Lys953Glu) | dbSNP |
2 | g.50497337T>G | CA346776684 | NRXN1 | c.2875A>C (p.Lys959Gln) n.851A>C n.1774A>C n.42A>C c.2029A>C (p.Lys677Gln) c.2020A>C (p.Lys674Gln) c.2995A>C (p.Lys999Gln) c.2839A>C (p.Lys947Gln) c.2065A>C (p.Lys689Gln) c.2851A>C (p.Lys951Gln) c.2896A>C (p.Lys966Gln) c.2893A>C (p.Lys965Gln) c.2884A>C (p.Lys962Gln) c.2878A>C (p.Lys960Gln) c.2869A>C (p.Lys957Gln) c.2866A>C (p.Lys956Gln) c.2836A>C (p.Lys946Gln) c.2806A>C (p.Lys936Gln) c.2101A>C (p.Lys701Gln) c.2056A>C (p.Lys686Gln) c.1936A>C (p.Lys646Gln) c.2809A>C (p.Lys937Gln) c.2848A>C (p.Lys950Gln) c.2764A>C (p.Lys922Gln) c.2794A>C (p.Lys932Gln) c.2872A>C (p.Lys958Gln) c.2863A>C (p.Lys955Gln) c.2824A>C (p.Lys942Gln) c.2833A>C (p.Lys945Gln) c.2857A>C (p.Lys953Gln) | |
2 | g.50497337T= | CA1249594717 | NRXN1 | c.2875A= (p.Lys959=) n.851A= n.1774A= n.42A= c.2029A= (p.Lys677=) c.2020A= (p.Lys674=) c.2995A= (p.Lys999=) c.2839A= (p.Lys947=) c.2065A= (p.Lys689=) c.2851A= (p.Lys951=) c.2896A= (p.Lys966=) c.2893A= (p.Lys965=) c.2884A= (p.Lys962=) c.2878A= (p.Lys960=) c.2869A= (p.Lys957=) c.2866A= (p.Lys956=) c.2836A= (p.Lys946=) c.2806A= (p.Lys936=) c.2101A= (p.Lys701=) c.2056A= (p.Lys686=) c.1936A= (p.Lys646=) c.2809A= (p.Lys937=) c.2848A= (p.Lys950=) c.2764A= (p.Lys922=) c.2794A= (p.Lys932=) c.2872A= (p.Lys958=) c.2863A= (p.Lys955=) c.2824A= (p.Lys942=) c.2833A= (p.Lys945=) c.2857A= (p.Lys953=) | |
2 | g.50497338A>C | CA426023322 | NRXN1 | c.2874T>G (p.Val958=) n.850T>G n.1773T>G n.41T>G c.2028T>G (p.Val676=) c.2019T>G (p.Val673=) c.2994T>G (p.Val998=) c.2838T>G (p.Val946=) c.2064T>G (p.Val688=) c.2850T>G (p.Val950=) c.2895T>G (p.Val965=) c.2892T>G (p.Val964=) c.2883T>G (p.Val961=) c.2877T>G (p.Val959=) c.2868T>G (p.Val956=) c.2865T>G (p.Val955=) c.2835T>G (p.Val945=) c.2805T>G (p.Val935=) c.2100T>G (p.Val700=) c.2055T>G (p.Val685=) c.1935T>G (p.Val645=) c.2808T>G (p.Val936=) c.2847T>G (p.Val949=) c.2763T>G (p.Val921=) c.2793T>G (p.Val931=) c.2871T>G (p.Val957=) c.2862T>G (p.Val954=) c.2823T>G (p.Val941=) c.2832T>G (p.Val944=) c.2856T>G (p.Val952=) | |
2 | g.50497338A>G | CA426023323 | NRXN1 | c.2874T>C (p.Val958=) n.850T>C n.1773T>C n.41T>C c.2028T>C (p.Val676=) c.2019T>C (p.Val673=) c.2994T>C (p.Val998=) c.2838T>C (p.Val946=) c.2064T>C (p.Val688=) c.2850T>C (p.Val950=) c.2895T>C (p.Val965=) c.2892T>C (p.Val964=) c.2883T>C (p.Val961=) c.2877T>C (p.Val959=) c.2868T>C (p.Val956=) c.2865T>C (p.Val955=) c.2835T>C (p.Val945=) c.2805T>C (p.Val935=) c.2100T>C (p.Val700=) c.2055T>C (p.Val685=) c.1935T>C (p.Val645=) c.2808T>C (p.Val936=) c.2847T>C (p.Val949=) c.2763T>C (p.Val921=) c.2793T>C (p.Val931=) c.2871T>C (p.Val957=) c.2862T>C (p.Val954=) c.2823T>C (p.Val941=) c.2832T>C (p.Val944=) c.2856T>C (p.Val952=) | gnomAD v4 |
2 | g.50497338A>T | CA426023324 | NRXN1 | c.2874T>A (p.Val958=) n.850T>A n.1773T>A n.41T>A c.2028T>A (p.Val676=) c.2019T>A (p.Val673=) c.2994T>A (p.Val998=) c.2838T>A (p.Val946=) c.2064T>A (p.Val688=) c.2850T>A (p.Val950=) c.2895T>A (p.Val965=) c.2892T>A (p.Val964=) c.2883T>A (p.Val961=) c.2877T>A (p.Val959=) c.2868T>A (p.Val956=) c.2865T>A (p.Val955=) c.2835T>A (p.Val945=) c.2805T>A (p.Val935=) c.2100T>A (p.Val700=) c.2055T>A (p.Val685=) c.1935T>A (p.Val645=) c.2808T>A (p.Val936=) c.2847T>A (p.Val949=) c.2763T>A (p.Val921=) c.2793T>A (p.Val931=) c.2871T>A (p.Val957=) c.2862T>A (p.Val954=) c.2823T>A (p.Val941=) c.2832T>A (p.Val944=) c.2856T>A (p.Val952=) | |
2 | g.50497339A= | CA1249594718 | NRXN1 | c.2873T= (p.Val958=) n.849T= n.1772T= n.40T= c.2027T= (p.Val676=) c.2018T= (p.Val673=) c.2993T= (p.Val998=) c.2837T= (p.Val946=) c.2063T= (p.Val688=) c.2849T= (p.Val950=) c.2894T= (p.Val965=) c.2891T= (p.Val964=) c.2882T= (p.Val961=) c.2876T= (p.Val959=) c.2867T= (p.Val956=) c.2864T= (p.Val955=) c.2834T= (p.Val945=) c.2804T= (p.Val935=) c.2099T= (p.Val700=) c.2054T= (p.Val685=) c.1934T= (p.Val645=) c.2807T= (p.Val936=) c.2846T= (p.Val949=) c.2762T= (p.Val921=) c.2792T= (p.Val931=) c.2870T= (p.Val957=) c.2861T= (p.Val954=) c.2822T= (p.Val941=) c.2831T= (p.Val944=) c.2855T= (p.Val952=) | |
2 | g.50497339A>C | CA346776687 | NRXN1 | c.2873T>G (p.Val958Gly) n.849T>G n.1772T>G n.40T>G c.2027T>G (p.Val676Gly) c.2018T>G (p.Val673Gly) c.2993T>G (p.Val998Gly) c.2837T>G (p.Val946Gly) c.2063T>G (p.Val688Gly) c.2849T>G (p.Val950Gly) c.2894T>G (p.Val965Gly) c.2891T>G (p.Val964Gly) c.2882T>G (p.Val961Gly) c.2876T>G (p.Val959Gly) c.2867T>G (p.Val956Gly) c.2864T>G (p.Val955Gly) c.2834T>G (p.Val945Gly) c.2804T>G (p.Val935Gly) c.2099T>G (p.Val700Gly) c.2054T>G (p.Val685Gly) c.1934T>G (p.Val645Gly) c.2807T>G (p.Val936Gly) c.2846T>G (p.Val949Gly) c.2762T>G (p.Val921Gly) c.2792T>G (p.Val931Gly) c.2870T>G (p.Val957Gly) c.2861T>G (p.Val954Gly) c.2822T>G (p.Val941Gly) c.2831T>G (p.Val944Gly) c.2855T>G (p.Val952Gly) | |
2 | g.50497339A>G | CA346776686 | NRXN1 | c.2873T>C (p.Val958Ala) n.849T>C n.1772T>C n.40T>C c.2027T>C (p.Val676Ala) c.2018T>C (p.Val673Ala) c.2993T>C (p.Val998Ala) c.2837T>C (p.Val946Ala) c.2063T>C (p.Val688Ala) c.2849T>C (p.Val950Ala) c.2894T>C (p.Val965Ala) c.2891T>C (p.Val964Ala) c.2882T>C (p.Val961Ala) c.2876T>C (p.Val959Ala) c.2867T>C (p.Val956Ala) c.2864T>C (p.Val955Ala) c.2834T>C (p.Val945Ala) c.2804T>C (p.Val935Ala) c.2099T>C (p.Val700Ala) c.2054T>C (p.Val685Ala) c.1934T>C (p.Val645Ala) c.2807T>C (p.Val936Ala) c.2846T>C (p.Val949Ala) c.2762T>C (p.Val921Ala) c.2792T>C (p.Val931Ala) c.2870T>C (p.Val957Ala) c.2861T>C (p.Val954Ala) c.2822T>C (p.Val941Ala) c.2831T>C (p.Val944Ala) c.2855T>C (p.Val952Ala) | ClinVar dbSNP |
2 | g.50497339A>T | CA346776685 | NRXN1 | c.2873T>A (p.Val958Asp) n.849T>A n.1772T>A n.40T>A c.2027T>A (p.Val676Asp) c.2018T>A (p.Val673Asp) c.2993T>A (p.Val998Asp) c.2837T>A (p.Val946Asp) c.2063T>A (p.Val688Asp) c.2849T>A (p.Val950Asp) c.2894T>A (p.Val965Asp) c.2891T>A (p.Val964Asp) c.2882T>A (p.Val961Asp) c.2876T>A (p.Val959Asp) c.2867T>A (p.Val956Asp) c.2864T>A (p.Val955Asp) c.2834T>A (p.Val945Asp) c.2804T>A (p.Val935Asp) c.2099T>A (p.Val700Asp) c.2054T>A (p.Val685Asp) c.1934T>A (p.Val645Asp) c.2807T>A (p.Val936Asp) c.2846T>A (p.Val949Asp) c.2762T>A (p.Val921Asp) c.2792T>A (p.Val931Asp) c.2870T>A (p.Val957Asp) c.2861T>A (p.Val954Asp) c.2822T>A (p.Val941Asp) c.2831T>A (p.Val944Asp) c.2855T>A (p.Val952Asp) | |
2 | g.50497340C>A | CA346776688 | NRXN1 | c.2872G>T (p.Val958Phe) n.848G>T n.1771G>T n.39G>T c.2026G>T (p.Val676Phe) c.2017G>T (p.Val673Phe) c.2992G>T (p.Val998Phe) c.2836G>T (p.Val946Phe) c.2062G>T (p.Val688Phe) c.2848G>T (p.Val950Phe) c.2893G>T (p.Val965Phe) c.2890G>T (p.Val964Phe) c.2881G>T (p.Val961Phe) c.2875G>T (p.Val959Phe) c.2866G>T (p.Val956Phe) c.2863G>T (p.Val955Phe) c.2833G>T (p.Val945Phe) c.2803G>T (p.Val935Phe) c.2098G>T (p.Val700Phe) c.2053G>T (p.Val685Phe) c.1933G>T (p.Val645Phe) c.2806G>T (p.Val936Phe) c.2845G>T (p.Val949Phe) c.2761G>T (p.Val921Phe) c.2791G>T (p.Val931Phe) c.2869G>T (p.Val957Phe) c.2860G>T (p.Val954Phe) c.2821G>T (p.Val941Phe) c.2830G>T (p.Val944Phe) c.2854G>T (p.Val952Phe) | gnomAD v4 |
2 | g.50497340C>G | CA346776689 | NRXN1 | c.2872G>C (p.Val958Leu) n.848G>C n.1771G>C n.39G>C c.2026G>C (p.Val676Leu) c.2017G>C (p.Val673Leu) c.2992G>C (p.Val998Leu) c.2836G>C (p.Val946Leu) c.2062G>C (p.Val688Leu) c.2848G>C (p.Val950Leu) c.2893G>C (p.Val965Leu) c.2890G>C (p.Val964Leu) c.2881G>C (p.Val961Leu) c.2875G>C (p.Val959Leu) c.2866G>C (p.Val956Leu) c.2863G>C (p.Val955Leu) c.2833G>C (p.Val945Leu) c.2803G>C (p.Val935Leu) c.2098G>C (p.Val700Leu) c.2053G>C (p.Val685Leu) c.1933G>C (p.Val645Leu) c.2806G>C (p.Val936Leu) c.2845G>C (p.Val949Leu) c.2761G>C (p.Val921Leu) c.2791G>C (p.Val931Leu) c.2869G>C (p.Val957Leu) c.2860G>C (p.Val954Leu) c.2821G>C (p.Val941Leu) c.2830G>C (p.Val944Leu) c.2854G>C (p.Val952Leu) | |
2 | g.50497340C>T | CA346776690 | NRXN1 | c.2872G>A (p.Val958Ile) n.848G>A n.1771G>A n.39G>A c.2026G>A (p.Val676Ile) c.2017G>A (p.Val673Ile) c.2992G>A (p.Val998Ile) c.2836G>A (p.Val946Ile) c.2062G>A (p.Val688Ile) c.2848G>A (p.Val950Ile) c.2893G>A (p.Val965Ile) c.2890G>A (p.Val964Ile) c.2881G>A (p.Val961Ile) c.2875G>A (p.Val959Ile) c.2866G>A (p.Val956Ile) c.2863G>A (p.Val955Ile) c.2833G>A (p.Val945Ile) c.2803G>A (p.Val935Ile) c.2098G>A (p.Val700Ile) c.2053G>A (p.Val685Ile) c.1933G>A (p.Val645Ile) c.2806G>A (p.Val936Ile) c.2845G>A (p.Val949Ile) c.2761G>A (p.Val921Ile) c.2791G>A (p.Val931Ile) c.2869G>A (p.Val957Ile) c.2860G>A (p.Val954Ile) c.2821G>A (p.Val941Ile) c.2830G>A (p.Val944Ile) c.2854G>A (p.Val952Ile) | |
2 | g.50497341T>A | CA346776691 | NRXN1 | c.2871A>T (p.Leu957Phe) n.847A>T n.1770A>T n.38A>T c.2025A>T (p.Leu675Phe) c.2016A>T (p.Leu672Phe) c.2991A>T (p.Leu997Phe) c.2835A>T (p.Leu945Phe) c.2061A>T (p.Leu687Phe) c.2847A>T (p.Leu949Phe) c.2892A>T (p.Leu964Phe) c.2889A>T (p.Leu963Phe) c.2880A>T (p.Leu960Phe) c.2874A>T (p.Leu958Phe) c.2865A>T (p.Leu955Phe) c.2862A>T (p.Leu954Phe) c.2832A>T (p.Leu944Phe) c.2802A>T (p.Leu934Phe) c.2097A>T (p.Leu699Phe) c.2052A>T (p.Leu684Phe) c.1932A>T (p.Leu644Phe) c.2805A>T (p.Leu935Phe) c.2844A>T (p.Leu948Phe) c.2760A>T (p.Leu920Phe) c.2790A>T (p.Leu930Phe) c.2868A>T (p.Leu956Phe) c.2859A>T (p.Leu953Phe) c.2820A>T (p.Leu940Phe) c.2829A>T (p.Leu943Phe) c.2853A>T (p.Leu951Phe) | |
2 | g.50497341T>C | CA426023325 | NRXN1 | c.2871A>G (p.Leu957=) n.847A>G n.1770A>G n.38A>G c.2025A>G (p.Leu675=) c.2016A>G (p.Leu672=) c.2991A>G (p.Leu997=) c.2835A>G (p.Leu945=) c.2061A>G (p.Leu687=) c.2847A>G (p.Leu949=) c.2892A>G (p.Leu964=) c.2889A>G (p.Leu963=) c.2880A>G (p.Leu960=) c.2874A>G (p.Leu958=) c.2865A>G (p.Leu955=) c.2862A>G (p.Leu954=) c.2832A>G (p.Leu944=) c.2802A>G (p.Leu934=) c.2097A>G (p.Leu699=) c.2052A>G (p.Leu684=) c.1932A>G (p.Leu644=) c.2805A>G (p.Leu935=) c.2844A>G (p.Leu948=) c.2760A>G (p.Leu920=) c.2790A>G (p.Leu930=) c.2868A>G (p.Leu956=) c.2859A>G (p.Leu953=) c.2820A>G (p.Leu940=) c.2829A>G (p.Leu943=) c.2853A>G (p.Leu951=) | |
2 | g.50497341T>G | CA346776692 | NRXN1 | c.2871A>C (p.Leu957Phe) n.847A>C n.1770A>C n.38A>C c.2025A>C (p.Leu675Phe) c.2016A>C (p.Leu672Phe) c.2991A>C (p.Leu997Phe) c.2835A>C (p.Leu945Phe) c.2061A>C (p.Leu687Phe) c.2847A>C (p.Leu949Phe) c.2892A>C (p.Leu964Phe) c.2889A>C (p.Leu963Phe) c.2880A>C (p.Leu960Phe) c.2874A>C (p.Leu958Phe) c.2865A>C (p.Leu955Phe) c.2862A>C (p.Leu954Phe) c.2832A>C (p.Leu944Phe) c.2802A>C (p.Leu934Phe) c.2097A>C (p.Leu699Phe) c.2052A>C (p.Leu684Phe) c.1932A>C (p.Leu644Phe) c.2805A>C (p.Leu935Phe) c.2844A>C (p.Leu948Phe) c.2760A>C (p.Leu920Phe) c.2790A>C (p.Leu930Phe) c.2868A>C (p.Leu956Phe) c.2859A>C (p.Leu953Phe) c.2820A>C (p.Leu940Phe) c.2829A>C (p.Leu943Phe) c.2853A>C (p.Leu951Phe) | |
2 | g.50497342A>C | CA346776693 | NRXN1 | c.2870T>G (p.Leu957Ter) n.846T>G n.1769T>G n.37T>G c.2024T>G (p.Leu675Ter) c.2015T>G (p.Leu672Ter) c.2990T>G (p.Leu997Ter) c.2834T>G (p.Leu945Ter) c.2060T>G (p.Leu687Ter) c.2846T>G (p.Leu949Ter) c.2891T>G (p.Leu964Ter) c.2888T>G (p.Leu963Ter) c.2879T>G (p.Leu960Ter) c.2873T>G (p.Leu958Ter) c.2864T>G (p.Leu955Ter) c.2861T>G (p.Leu954Ter) c.2831T>G (p.Leu944Ter) c.2801T>G (p.Leu934Ter) c.2096T>G (p.Leu699Ter) c.2051T>G (p.Leu684Ter) c.1931T>G (p.Leu644Ter) c.2804T>G (p.Leu935Ter) c.2843T>G (p.Leu948Ter) c.2759T>G (p.Leu920Ter) c.2789T>G (p.Leu930Ter) c.2867T>G (p.Leu956Ter) c.2858T>G (p.Leu953Ter) c.2819T>G (p.Leu940Ter) c.2828T>G (p.Leu943Ter) c.2852T>G (p.Leu951Ter) | |
2 | g.50497342A>G | CA346776694 | NRXN1 | c.2870T>C (p.Leu957Ser) n.846T>C n.1769T>C n.37T>C c.2024T>C (p.Leu675Ser) c.2015T>C (p.Leu672Ser) c.2990T>C (p.Leu997Ser) c.2834T>C (p.Leu945Ser) c.2060T>C (p.Leu687Ser) c.2846T>C (p.Leu949Ser) c.2891T>C (p.Leu964Ser) c.2888T>C (p.Leu963Ser) c.2879T>C (p.Leu960Ser) c.2873T>C (p.Leu958Ser) c.2864T>C (p.Leu955Ser) c.2861T>C (p.Leu954Ser) c.2831T>C (p.Leu944Ser) c.2801T>C (p.Leu934Ser) c.2096T>C (p.Leu699Ser) c.2051T>C (p.Leu684Ser) c.1931T>C (p.Leu644Ser) c.2804T>C (p.Leu935Ser) c.2843T>C (p.Leu948Ser) c.2759T>C (p.Leu920Ser) c.2789T>C (p.Leu930Ser) c.2867T>C (p.Leu956Ser) c.2858T>C (p.Leu953Ser) c.2819T>C (p.Leu940Ser) c.2828T>C (p.Leu943Ser) c.2852T>C (p.Leu951Ser) | |
2 | g.50497342A>T | CA346776695 | NRXN1 | c.2870T>A (p.Leu957Ter) n.846T>A n.1769T>A n.37T>A c.2024T>A (p.Leu675Ter) c.2015T>A (p.Leu672Ter) c.2990T>A (p.Leu997Ter) c.2834T>A (p.Leu945Ter) c.2060T>A (p.Leu687Ter) c.2846T>A (p.Leu949Ter) c.2891T>A (p.Leu964Ter) c.2888T>A (p.Leu963Ter) c.2879T>A (p.Leu960Ter) c.2873T>A (p.Leu958Ter) c.2864T>A (p.Leu955Ter) c.2861T>A (p.Leu954Ter) c.2831T>A (p.Leu944Ter) c.2801T>A (p.Leu934Ter) c.2096T>A (p.Leu699Ter) c.2051T>A (p.Leu684Ter) c.1931T>A (p.Leu644Ter) c.2804T>A (p.Leu935Ter) c.2843T>A (p.Leu948Ter) c.2759T>A (p.Leu920Ter) c.2789T>A (p.Leu930Ter) c.2867T>A (p.Leu956Ter) c.2858T>A (p.Leu953Ter) c.2819T>A (p.Leu940Ter) c.2828T>A (p.Leu943Ter) c.2852T>A (p.Leu951Ter) | |
2 | g.50497343A>C | CA346776696 | NRXN1 | c.2869T>G (p.Leu957Val) n.845T>G n.1768T>G n.36T>G c.2023T>G (p.Leu675Val) c.2014T>G (p.Leu672Val) c.2989T>G (p.Leu997Val) c.2833T>G (p.Leu945Val) c.2059T>G (p.Leu687Val) c.2845T>G (p.Leu949Val) c.2890T>G (p.Leu964Val) c.2887T>G (p.Leu963Val) c.2878T>G (p.Leu960Val) c.2872T>G (p.Leu958Val) c.2863T>G (p.Leu955Val) c.2860T>G (p.Leu954Val) c.2830T>G (p.Leu944Val) c.2800T>G (p.Leu934Val) c.2095T>G (p.Leu699Val) c.2050T>G (p.Leu684Val) c.1930T>G (p.Leu644Val) c.2803T>G (p.Leu935Val) c.2842T>G (p.Leu948Val) c.2758T>G (p.Leu920Val) c.2788T>G (p.Leu930Val) c.2866T>G (p.Leu956Val) c.2857T>G (p.Leu953Val) c.2818T>G (p.Leu940Val) c.2827T>G (p.Leu943Val) c.2851T>G (p.Leu951Val) | |
2 | g.50497343A>G | CA426023326 | NRXN1 | c.2869T>C (p.Leu957=) n.845T>C n.1768T>C n.36T>C c.2023T>C (p.Leu675=) c.2014T>C (p.Leu672=) c.2989T>C (p.Leu997=) c.2833T>C (p.Leu945=) c.2059T>C (p.Leu687=) c.2845T>C (p.Leu949=) c.2890T>C (p.Leu964=) c.2887T>C (p.Leu963=) c.2878T>C (p.Leu960=) c.2872T>C (p.Leu958=) c.2863T>C (p.Leu955=) c.2860T>C (p.Leu954=) c.2830T>C (p.Leu944=) c.2800T>C (p.Leu934=) c.2095T>C (p.Leu699=) c.2050T>C (p.Leu684=) c.1930T>C (p.Leu644=) c.2803T>C (p.Leu935=) c.2842T>C (p.Leu948=) c.2758T>C (p.Leu920=) c.2788T>C (p.Leu930=) c.2866T>C (p.Leu956=) c.2857T>C (p.Leu953=) c.2818T>C (p.Leu940=) c.2827T>C (p.Leu943=) c.2851T>C (p.Leu951=) | |
2 | g.50497343A>T | CA346776697 | NRXN1 | c.2869T>A (p.Leu957Ile) n.845T>A n.1768T>A n.36T>A c.2023T>A (p.Leu675Ile) c.2014T>A (p.Leu672Ile) c.2989T>A (p.Leu997Ile) c.2833T>A (p.Leu945Ile) c.2059T>A (p.Leu687Ile) c.2845T>A (p.Leu949Ile) c.2890T>A (p.Leu964Ile) c.2887T>A (p.Leu963Ile) c.2878T>A (p.Leu960Ile) c.2872T>A (p.Leu958Ile) c.2863T>A (p.Leu955Ile) c.2860T>A (p.Leu954Ile) c.2830T>A (p.Leu944Ile) c.2800T>A (p.Leu934Ile) c.2095T>A (p.Leu699Ile) c.2050T>A (p.Leu684Ile) c.1930T>A (p.Leu644Ile) c.2803T>A (p.Leu935Ile) c.2842T>A (p.Leu948Ile) c.2758T>A (p.Leu920Ile) c.2788T>A (p.Leu930Ile) c.2866T>A (p.Leu956Ile) c.2857T>A (p.Leu953Ile) c.2818T>A (p.Leu940Ile) c.2827T>A (p.Leu943Ile) c.2851T>A (p.Leu951Ile) | |
2 | g.50497344T>A | CA346776698 | NRXN1 | c.2868A>T (p.Glu956Asp) n.844A>T n.1767A>T n.35A>T c.2022A>T (p.Glu674Asp) c.2013A>T (p.Glu671Asp) c.2988A>T (p.Glu996Asp) c.2832A>T (p.Glu944Asp) c.2058A>T (p.Glu686Asp) c.2844A>T (p.Glu948Asp) c.2889A>T (p.Glu963Asp) c.2886A>T (p.Glu962Asp) c.2877A>T (p.Glu959Asp) c.2871A>T (p.Glu957Asp) c.2862A>T (p.Glu954Asp) c.2859A>T (p.Glu953Asp) c.2829A>T (p.Glu943Asp) c.2799A>T (p.Glu933Asp) c.2094A>T (p.Glu698Asp) c.2049A>T (p.Glu683Asp) c.1929A>T (p.Glu643Asp) c.2802A>T (p.Glu934Asp) c.2841A>T (p.Glu947Asp) c.2757A>T (p.Glu919Asp) c.2787A>T (p.Glu929Asp) c.2865A>T (p.Glu955Asp) c.2856A>T (p.Glu952Asp) c.2817A>T (p.Glu939Asp) c.2826A>T (p.Glu942Asp) c.2850A>T (p.Glu950Asp) | |
2 | g.50497344T>C | CA1654724 | NRXN1 | c.2868A>G (p.Glu956=) n.844A>G n.1767A>G n.35A>G c.2022A>G (p.Glu674=) c.2013A>G (p.Glu671=) c.2988A>G (p.Glu996=) c.2832A>G (p.Glu944=) c.2058A>G (p.Glu686=) c.2844A>G (p.Glu948=) c.2889A>G (p.Glu963=) c.2886A>G (p.Glu962=) c.2877A>G (p.Glu959=) c.2871A>G (p.Glu957=) c.2862A>G (p.Glu954=) c.2859A>G (p.Glu953=) c.2829A>G (p.Glu943=) c.2799A>G (p.Glu933=) c.2094A>G (p.Glu698=) c.2049A>G (p.Glu683=) c.1929A>G (p.Glu643=) c.2802A>G (p.Glu934=) c.2841A>G (p.Glu947=) c.2757A>G (p.Glu919=) c.2787A>G (p.Glu929=) c.2865A>G (p.Glu955=) c.2856A>G (p.Glu952=) c.2817A>G (p.Glu939=) c.2826A>G (p.Glu942=) c.2850A>G (p.Glu950=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.50497344T>G | CA346776699 | NRXN1 | c.2868A>C (p.Glu956Asp) n.844A>C n.1767A>C n.35A>C c.2022A>C (p.Glu674Asp) c.2013A>C (p.Glu671Asp) c.2988A>C (p.Glu996Asp) c.2832A>C (p.Glu944Asp) c.2058A>C (p.Glu686Asp) c.2844A>C (p.Glu948Asp) c.2889A>C (p.Glu963Asp) c.2886A>C (p.Glu962Asp) c.2877A>C (p.Glu959Asp) c.2871A>C (p.Glu957Asp) c.2862A>C (p.Glu954Asp) c.2859A>C (p.Glu953Asp) c.2829A>C (p.Glu943Asp) c.2799A>C (p.Glu933Asp) c.2094A>C (p.Glu698Asp) c.2049A>C (p.Glu683Asp) c.1929A>C (p.Glu643Asp) c.2802A>C (p.Glu934Asp) c.2841A>C (p.Glu947Asp) c.2757A>C (p.Glu919Asp) c.2787A>C (p.Glu929Asp) c.2865A>C (p.Glu955Asp) c.2856A>C (p.Glu952Asp) c.2817A>C (p.Glu939Asp) c.2826A>C (p.Glu942Asp) c.2850A>C (p.Glu950Asp) | |
2 | g.50497344T= | CA1249594719 | NRXN1 | c.2868A= (p.Glu956=) n.844A= n.1767A= n.35A= c.2022A= (p.Glu674=) c.2013A= (p.Glu671=) c.2988A= (p.Glu996=) c.2832A= (p.Glu944=) c.2058A= (p.Glu686=) c.2844A= (p.Glu948=) c.2889A= (p.Glu963=) c.2886A= (p.Glu962=) c.2877A= (p.Glu959=) c.2871A= (p.Glu957=) c.2862A= (p.Glu954=) c.2859A= (p.Glu953=) c.2829A= (p.Glu943=) c.2799A= (p.Glu933=) c.2094A= (p.Glu698=) c.2049A= (p.Glu683=) c.1929A= (p.Glu643=) c.2802A= (p.Glu934=) c.2841A= (p.Glu947=) c.2757A= (p.Glu919=) c.2787A= (p.Glu929=) c.2865A= (p.Glu955=) c.2856A= (p.Glu952=) c.2817A= (p.Glu939=) c.2826A= (p.Glu942=) c.2850A= (p.Glu950=) | |
2 | g.50497345T>A | CA346776701 | NRXN1 | c.2867A>T (p.Glu956Val) n.843A>T n.1766A>T n.34A>T c.2021A>T (p.Glu674Val) c.2012A>T (p.Glu671Val) c.2987A>T (p.Glu996Val) c.2831A>T (p.Glu944Val) c.2057A>T (p.Glu686Val) c.2843A>T (p.Glu948Val) c.2888A>T (p.Glu963Val) c.2885A>T (p.Glu962Val) c.2876A>T (p.Glu959Val) c.2870A>T (p.Glu957Val) c.2861A>T (p.Glu954Val) c.2858A>T (p.Glu953Val) c.2828A>T (p.Glu943Val) c.2798A>T (p.Glu933Val) c.2093A>T (p.Glu698Val) c.2048A>T (p.Glu683Val) c.1928A>T (p.Glu643Val) c.2801A>T (p.Glu934Val) c.2840A>T (p.Glu947Val) c.2756A>T (p.Glu919Val) c.2786A>T (p.Glu929Val) c.2864A>T (p.Glu955Val) c.2855A>T (p.Glu952Val) c.2816A>T (p.Glu939Val) c.2825A>T (p.Glu942Val) c.2849A>T (p.Glu950Val) | |
2 | g.50497345T>C | CA346776702 | NRXN1 | c.2867A>G (p.Glu956Gly) n.843A>G n.1766A>G n.34A>G c.2021A>G (p.Glu674Gly) c.2012A>G (p.Glu671Gly) c.2987A>G (p.Glu996Gly) c.2831A>G (p.Glu944Gly) c.2057A>G (p.Glu686Gly) c.2843A>G (p.Glu948Gly) c.2888A>G (p.Glu963Gly) c.2885A>G (p.Glu962Gly) c.2876A>G (p.Glu959Gly) c.2870A>G (p.Glu957Gly) c.2861A>G (p.Glu954Gly) c.2858A>G (p.Glu953Gly) c.2828A>G (p.Glu943Gly) c.2798A>G (p.Glu933Gly) c.2093A>G (p.Glu698Gly) c.2048A>G (p.Glu683Gly) c.1928A>G (p.Glu643Gly) c.2801A>G (p.Glu934Gly) c.2840A>G (p.Glu947Gly) c.2756A>G (p.Glu919Gly) c.2786A>G (p.Glu929Gly) c.2864A>G (p.Glu955Gly) c.2855A>G (p.Glu952Gly) c.2816A>G (p.Glu939Gly) c.2825A>G (p.Glu942Gly) c.2849A>G (p.Glu950Gly) | |
2 | g.50497345T>G | CA346776700 | NRXN1 | c.2867A>C (p.Glu956Ala) n.843A>C n.1766A>C n.34A>C c.2021A>C (p.Glu674Ala) c.2012A>C (p.Glu671Ala) c.2987A>C (p.Glu996Ala) c.2831A>C (p.Glu944Ala) c.2057A>C (p.Glu686Ala) c.2843A>C (p.Glu948Ala) c.2888A>C (p.Glu963Ala) c.2885A>C (p.Glu962Ala) c.2876A>C (p.Glu959Ala) c.2870A>C (p.Glu957Ala) c.2861A>C (p.Glu954Ala) c.2858A>C (p.Glu953Ala) c.2828A>C (p.Glu943Ala) c.2798A>C (p.Glu933Ala) c.2093A>C (p.Glu698Ala) c.2048A>C (p.Glu683Ala) c.1928A>C (p.Glu643Ala) c.2801A>C (p.Glu934Ala) c.2840A>C (p.Glu947Ala) c.2756A>C (p.Glu919Ala) c.2786A>C (p.Glu929Ala) c.2864A>C (p.Glu955Ala) c.2855A>C (p.Glu952Ala) c.2816A>C (p.Glu939Ala) c.2825A>C (p.Glu942Ala) c.2849A>C (p.Glu950Ala) | gnomAD v4 |
2 | g.50497346C>A | CA346776704 | NRXN1 | c.2866G>T (p.Glu956Ter) n.842G>T n.1765G>T n.33G>T c.2020G>T (p.Glu674Ter) c.2011G>T (p.Glu671Ter) c.2986G>T (p.Glu996Ter) c.2830G>T (p.Glu944Ter) c.2056G>T (p.Glu686Ter) c.2842G>T (p.Glu948Ter) c.2887G>T (p.Glu963Ter) c.2884G>T (p.Glu962Ter) c.2875G>T (p.Glu959Ter) c.2869G>T (p.Glu957Ter) c.2860G>T (p.Glu954Ter) c.2857G>T (p.Glu953Ter) c.2827G>T (p.Glu943Ter) c.2797G>T (p.Glu933Ter) c.2092G>T (p.Glu698Ter) c.2047G>T (p.Glu683Ter) c.1927G>T (p.Glu643Ter) c.2800G>T (p.Glu934Ter) c.2839G>T (p.Glu947Ter) c.2755G>T (p.Glu919Ter) c.2785G>T (p.Glu929Ter) c.2863G>T (p.Glu955Ter) c.2854G>T (p.Glu952Ter) c.2815G>T (p.Glu939Ter) c.2824G>T (p.Glu942Ter) c.2848G>T (p.Glu950Ter) | |
2 | g.50497346C>G | CA346776703 | NRXN1 | c.2866G>C (p.Glu956Gln) n.842G>C n.1765G>C n.33G>C c.2020G>C (p.Glu674Gln) c.2011G>C (p.Glu671Gln) c.2986G>C (p.Glu996Gln) c.2830G>C (p.Glu944Gln) c.2056G>C (p.Glu686Gln) c.2842G>C (p.Glu948Gln) c.2887G>C (p.Glu963Gln) c.2884G>C (p.Glu962Gln) c.2875G>C (p.Glu959Gln) c.2869G>C (p.Glu957Gln) c.2860G>C (p.Glu954Gln) c.2857G>C (p.Glu953Gln) c.2827G>C (p.Glu943Gln) c.2797G>C (p.Glu933Gln) c.2092G>C (p.Glu698Gln) c.2047G>C (p.Glu683Gln) c.1927G>C (p.Glu643Gln) c.2800G>C (p.Glu934Gln) c.2839G>C (p.Glu947Gln) c.2755G>C (p.Glu919Gln) c.2785G>C (p.Glu929Gln) c.2863G>C (p.Glu955Gln) c.2854G>C (p.Glu952Gln) c.2815G>C (p.Glu939Gln) c.2824G>C (p.Glu942Gln) c.2848G>C (p.Glu950Gln) | |
2 | g.50497346C>T | CA346776705 | NRXN1 | c.2866G>A (p.Glu956Lys) n.842G>A n.1765G>A n.33G>A c.2020G>A (p.Glu674Lys) c.2011G>A (p.Glu671Lys) c.2986G>A (p.Glu996Lys) c.2830G>A (p.Glu944Lys) c.2056G>A (p.Glu686Lys) c.2842G>A (p.Glu948Lys) c.2887G>A (p.Glu963Lys) c.2884G>A (p.Glu962Lys) c.2875G>A (p.Glu959Lys) c.2869G>A (p.Glu957Lys) c.2860G>A (p.Glu954Lys) c.2857G>A (p.Glu953Lys) c.2827G>A (p.Glu943Lys) c.2797G>A (p.Glu933Lys) c.2092G>A (p.Glu698Lys) c.2047G>A (p.Glu683Lys) c.1927G>A (p.Glu643Lys) c.2800G>A (p.Glu934Lys) c.2839G>A (p.Glu947Lys) c.2755G>A (p.Glu919Lys) c.2785G>A (p.Glu929Lys) c.2863G>A (p.Glu955Lys) c.2854G>A (p.Glu952Lys) c.2815G>A (p.Glu939Lys) c.2824G>A (p.Glu942Lys) c.2848G>A (p.Glu950Lys) | |
2 | g.50497347A>C | CA426023327 | NRXN1 | c.2865T>G (p.Val955=) n.841T>G n.1764T>G n.32T>G c.2019T>G (p.Val673=) c.2010T>G (p.Val670=) c.2985T>G (p.Val995=) c.2829T>G (p.Val943=) c.2055T>G (p.Val685=) c.2841T>G (p.Val947=) c.2886T>G (p.Val962=) c.2883T>G (p.Val961=) c.2874T>G (p.Val958=) c.2868T>G (p.Val956=) c.2859T>G (p.Val953=) c.2856T>G (p.Val952=) c.2826T>G (p.Val942=) c.2796T>G (p.Val932=) c.2091T>G (p.Val697=) c.2046T>G (p.Val682=) c.1926T>G (p.Val642=) c.2799T>G (p.Val933=) c.2838T>G (p.Val946=) c.2754T>G (p.Val918=) c.2784T>G (p.Val928=) c.2862T>G (p.Val954=) c.2853T>G (p.Val951=) c.2814T>G (p.Val938=) c.2823T>G (p.Val941=) c.2847T>G (p.Val949=) | |
2 | g.50497347A>G | CA426023329 | NRXN1 | c.2865T>C (p.Val955=) n.841T>C n.1764T>C n.32T>C c.2019T>C (p.Val673=) c.2010T>C (p.Val670=) c.2985T>C (p.Val995=) c.2829T>C (p.Val943=) c.2055T>C (p.Val685=) c.2841T>C (p.Val947=) c.2886T>C (p.Val962=) c.2883T>C (p.Val961=) c.2874T>C (p.Val958=) c.2868T>C (p.Val956=) c.2859T>C (p.Val953=) c.2856T>C (p.Val952=) c.2826T>C (p.Val942=) c.2796T>C (p.Val932=) c.2091T>C (p.Val697=) c.2046T>C (p.Val682=) c.1926T>C (p.Val642=) c.2799T>C (p.Val933=) c.2838T>C (p.Val946=) c.2754T>C (p.Val918=) c.2784T>C (p.Val928=) c.2862T>C (p.Val954=) c.2853T>C (p.Val951=) c.2814T>C (p.Val938=) c.2823T>C (p.Val941=) c.2847T>C (p.Val949=) | |
2 | g.50497347A>T | CA426023328 | NRXN1 | c.2865T>A (p.Val955=) n.841T>A n.1764T>A n.32T>A c.2019T>A (p.Val673=) c.2010T>A (p.Val670=) c.2985T>A (p.Val995=) c.2829T>A (p.Val943=) c.2055T>A (p.Val685=) c.2841T>A (p.Val947=) c.2886T>A (p.Val962=) c.2883T>A (p.Val961=) c.2874T>A (p.Val958=) c.2868T>A (p.Val956=) c.2859T>A (p.Val953=) c.2856T>A (p.Val952=) c.2826T>A (p.Val942=) c.2796T>A (p.Val932=) c.2091T>A (p.Val697=) c.2046T>A (p.Val682=) c.1926T>A (p.Val642=) c.2799T>A (p.Val933=) c.2838T>A (p.Val946=) c.2754T>A (p.Val918=) c.2784T>A (p.Val928=) c.2862T>A (p.Val954=) c.2853T>A (p.Val951=) c.2814T>A (p.Val938=) c.2823T>A (p.Val941=) c.2847T>A (p.Val949=) | |
2 | g.50497348A>C | CA346776706 | NRXN1 | c.2864T>G (p.Val955Gly) n.840T>G n.1763T>G n.31T>G c.2018T>G (p.Val673Gly) c.2009T>G (p.Val670Gly) c.2984T>G (p.Val995Gly) c.2828T>G (p.Val943Gly) c.2054T>G (p.Val685Gly) c.2840T>G (p.Val947Gly) c.2885T>G (p.Val962Gly) c.2882T>G (p.Val961Gly) c.2873T>G (p.Val958Gly) c.2867T>G (p.Val956Gly) c.2858T>G (p.Val953Gly) c.2855T>G (p.Val952Gly) c.2825T>G (p.Val942Gly) c.2795T>G (p.Val932Gly) c.2090T>G (p.Val697Gly) c.2045T>G (p.Val682Gly) c.1925T>G (p.Val642Gly) c.2798T>G (p.Val933Gly) c.2837T>G (p.Val946Gly) c.2753T>G (p.Val918Gly) c.2783T>G (p.Val928Gly) c.2861T>G (p.Val954Gly) c.2852T>G (p.Val951Gly) c.2813T>G (p.Val938Gly) c.2822T>G (p.Val941Gly) c.2846T>G (p.Val949Gly) | |
2 | g.50497348A>G | CA346776708 | NRXN1 | c.2864T>C (p.Val955Ala) n.840T>C n.1763T>C n.31T>C c.2018T>C (p.Val673Ala) c.2009T>C (p.Val670Ala) c.2984T>C (p.Val995Ala) c.2828T>C (p.Val943Ala) c.2054T>C (p.Val685Ala) c.2840T>C (p.Val947Ala) c.2885T>C (p.Val962Ala) c.2882T>C (p.Val961Ala) c.2873T>C (p.Val958Ala) c.2867T>C (p.Val956Ala) c.2858T>C (p.Val953Ala) c.2855T>C (p.Val952Ala) c.2825T>C (p.Val942Ala) c.2795T>C (p.Val932Ala) c.2090T>C (p.Val697Ala) c.2045T>C (p.Val682Ala) c.1925T>C (p.Val642Ala) c.2798T>C (p.Val933Ala) c.2837T>C (p.Val946Ala) c.2753T>C (p.Val918Ala) c.2783T>C (p.Val928Ala) c.2861T>C (p.Val954Ala) c.2852T>C (p.Val951Ala) c.2813T>C (p.Val938Ala) c.2822T>C (p.Val941Ala) c.2846T>C (p.Val949Ala) | |
2 | g.50497348A>T | CA346776707 | NRXN1 | c.2864T>A (p.Val955Asp) n.840T>A n.1763T>A n.31T>A c.2018T>A (p.Val673Asp) c.2009T>A (p.Val670Asp) c.2984T>A (p.Val995Asp) c.2828T>A (p.Val943Asp) c.2054T>A (p.Val685Asp) c.2840T>A (p.Val947Asp) c.2885T>A (p.Val962Asp) c.2882T>A (p.Val961Asp) c.2873T>A (p.Val958Asp) c.2867T>A (p.Val956Asp) c.2858T>A (p.Val953Asp) c.2855T>A (p.Val952Asp) c.2825T>A (p.Val942Asp) c.2795T>A (p.Val932Asp) c.2090T>A (p.Val697Asp) c.2045T>A (p.Val682Asp) c.1925T>A (p.Val642Asp) c.2798T>A (p.Val933Asp) c.2837T>A (p.Val946Asp) c.2753T>A (p.Val918Asp) c.2783T>A (p.Val928Asp) c.2861T>A (p.Val954Asp) c.2852T>A (p.Val951Asp) c.2813T>A (p.Val938Asp) c.2822T>A (p.Val941Asp) c.2846T>A (p.Val949Asp) | |
2 | g.50497349C>A | CA346776709 | NRXN1 | c.2863G>T (p.Val955Phe) n.839G>T n.1762G>T n.30G>T c.2017G>T (p.Val673Phe) c.2008G>T (p.Val670Phe) c.2983G>T (p.Val995Phe) c.2827G>T (p.Val943Phe) c.2053G>T (p.Val685Phe) c.2839G>T (p.Val947Phe) c.2884G>T (p.Val962Phe) c.2881G>T (p.Val961Phe) c.2872G>T (p.Val958Phe) c.2866G>T (p.Val956Phe) c.2857G>T (p.Val953Phe) c.2854G>T (p.Val952Phe) c.2824G>T (p.Val942Phe) c.2794G>T (p.Val932Phe) c.2089G>T (p.Val697Phe) c.2044G>T (p.Val682Phe) c.1924G>T (p.Val642Phe) c.2797G>T (p.Val933Phe) c.2836G>T (p.Val946Phe) c.2752G>T (p.Val918Phe) c.2782G>T (p.Val928Phe) c.2860G>T (p.Val954Phe) c.2851G>T (p.Val951Phe) c.2812G>T (p.Val938Phe) c.2821G>T (p.Val941Phe) c.2845G>T (p.Val949Phe) | gnomAD v4 |
2 | g.50497349C>G | CA346776710 | NRXN1 | c.2863G>C (p.Val955Leu) n.839G>C n.1762G>C n.30G>C c.2017G>C (p.Val673Leu) c.2008G>C (p.Val670Leu) c.2983G>C (p.Val995Leu) c.2827G>C (p.Val943Leu) c.2053G>C (p.Val685Leu) c.2839G>C (p.Val947Leu) c.2884G>C (p.Val962Leu) c.2881G>C (p.Val961Leu) c.2872G>C (p.Val958Leu) c.2866G>C (p.Val956Leu) c.2857G>C (p.Val953Leu) c.2854G>C (p.Val952Leu) c.2824G>C (p.Val942Leu) c.2794G>C (p.Val932Leu) c.2089G>C (p.Val697Leu) c.2044G>C (p.Val682Leu) c.1924G>C (p.Val642Leu) c.2797G>C (p.Val933Leu) c.2836G>C (p.Val946Leu) c.2752G>C (p.Val918Leu) c.2782G>C (p.Val928Leu) c.2860G>C (p.Val954Leu) c.2851G>C (p.Val951Leu) c.2812G>C (p.Val938Leu) c.2821G>C (p.Val941Leu) c.2845G>C (p.Val949Leu) | |
2 | g.50497349C>T | CA346776711 | NRXN1 | c.2863G>A (p.Val955Ile) n.839G>A n.1762G>A n.30G>A c.2017G>A (p.Val673Ile) c.2008G>A (p.Val670Ile) c.2983G>A (p.Val995Ile) c.2827G>A (p.Val943Ile) c.2053G>A (p.Val685Ile) c.2839G>A (p.Val947Ile) c.2884G>A (p.Val962Ile) c.2881G>A (p.Val961Ile) c.2872G>A (p.Val958Ile) c.2866G>A (p.Val956Ile) c.2857G>A (p.Val953Ile) c.2854G>A (p.Val952Ile) c.2824G>A (p.Val942Ile) c.2794G>A (p.Val932Ile) c.2089G>A (p.Val697Ile) c.2044G>A (p.Val682Ile) c.1924G>A (p.Val642Ile) c.2797G>A (p.Val933Ile) c.2836G>A (p.Val946Ile) c.2752G>A (p.Val918Ile) c.2782G>A (p.Val928Ile) c.2860G>A (p.Val954Ile) c.2851G>A (p.Val951Ile) c.2812G>A (p.Val938Ile) c.2821G>A (p.Val941Ile) c.2845G>A (p.Val949Ile) | |
2 | g.50497349_50497350insT | CA2527346693 | NRXN1 | c.2862_2863insA (p.Val955SerfsTer2) n.838_839insA n.1761_1762insA n.29_30insA c.2016_2017insA (p.Val673SerfsTer2) c.2007_2008insA (p.Val670SerfsTer2) c.2982_2983insA (p.Val995SerfsTer2) c.2826_2827insA (p.Val943SerfsTer2) c.2052_2053insA (p.Val685SerfsTer2) c.2838_2839insA (p.Val947SerfsTer2) c.2883_2884insA (p.Val962SerfsTer2) c.2880_2881insA (p.Val961SerfsTer2) c.2871_2872insA (p.Val958SerfsTer2) c.2865_2866insA (p.Val956SerfsTer2) c.2856_2857insA (p.Val953SerfsTer2) c.2853_2854insA (p.Val952SerfsTer2) c.2823_2824insA (p.Val942SerfsTer2) c.2793_2794insA (p.Val932SerfsTer2) c.2088_2089insA (p.Val697SerfsTer2) c.2043_2044insA (p.Val682SerfsTer2) c.1923_1924insA (p.Val642SerfsTer2) c.2796_2797insA (p.Val933SerfsTer2) c.2835_2836insA (p.Val946SerfsTer2) c.2751_2752insA (p.Val918SerfsTer2) c.2781_2782insA (p.Val928SerfsTer2) c.2859_2860insA (p.Val954SerfsTer2) c.2850_2851insA (p.Val951SerfsTer2) c.2811_2812insA (p.Val938SerfsTer2) c.2820_2821insA (p.Val941SerfsTer2) c.2844_2845insA (p.Val949SerfsTer2) | |
2 | g.50497350C>A | CA426023331 | NRXN1 | c.2862G>T (p.Val954=) n.838G>T n.1761G>T n.29G>T c.2016G>T (p.Val672=) c.2007G>T (p.Val669=) c.2982G>T (p.Val994=) c.2826G>T (p.Val942=) c.2052G>T (p.Val684=) c.2838G>T (p.Val946=) c.2883G>T (p.Val961=) c.2880G>T (p.Val960=) c.2871G>T (p.Val957=) c.2865G>T (p.Val955=) c.2856G>T (p.Val952=) c.2853G>T (p.Val951=) c.2823G>T (p.Val941=) c.2793G>T (p.Val931=) c.2088G>T (p.Val696=) c.2043G>T (p.Val681=) c.1923G>T (p.Val641=) c.2796G>T (p.Val932=) c.2835G>T (p.Val945=) c.2751G>T (p.Val917=) c.2781G>T (p.Val927=) c.2859G>T (p.Val953=) c.2850G>T (p.Val950=) c.2811G>T (p.Val937=) c.2820G>T (p.Val940=) c.2844G>T (p.Val948=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.50497350C= | CA1249594720 | NRXN1 | c.2862G= (p.Val954=) n.838G= n.1761G= n.29G= c.2016G= (p.Val672=) c.2007G= (p.Val669=) c.2982G= (p.Val994=) c.2826G= (p.Val942=) c.2052G= (p.Val684=) c.2838G= (p.Val946=) c.2883G= (p.Val961=) c.2880G= (p.Val960=) c.2871G= (p.Val957=) c.2865G= (p.Val955=) c.2856G= (p.Val952=) c.2853G= (p.Val951=) c.2823G= (p.Val941=) c.2793G= (p.Val931=) c.2088G= (p.Val696=) c.2043G= (p.Val681=) c.1923G= (p.Val641=) c.2796G= (p.Val932=) c.2835G= (p.Val945=) c.2751G= (p.Val917=) c.2781G= (p.Val927=) c.2859G= (p.Val953=) c.2850G= (p.Val950=) c.2811G= (p.Val937=) c.2820G= (p.Val940=) c.2844G= (p.Val948=) | |
2 | g.50497350C>G | CA426023332 | NRXN1 | c.2862G>C (p.Val954=) n.838G>C n.1761G>C n.29G>C c.2016G>C (p.Val672=) c.2007G>C (p.Val669=) c.2982G>C (p.Val994=) c.2826G>C (p.Val942=) c.2052G>C (p.Val684=) c.2838G>C (p.Val946=) c.2883G>C (p.Val961=) c.2880G>C (p.Val960=) c.2871G>C (p.Val957=) c.2865G>C (p.Val955=) c.2856G>C (p.Val952=) c.2853G>C (p.Val951=) c.2823G>C (p.Val941=) c.2793G>C (p.Val931=) c.2088G>C (p.Val696=) c.2043G>C (p.Val681=) c.1923G>C (p.Val641=) c.2796G>C (p.Val932=) c.2835G>C (p.Val945=) c.2751G>C (p.Val917=) c.2781G>C (p.Val927=) c.2859G>C (p.Val953=) c.2850G>C (p.Val950=) c.2811G>C (p.Val937=) c.2820G>C (p.Val940=) c.2844G>C (p.Val948=) | |
2 | g.50497350C>T | CA426023333 | NRXN1 | c.2862G>A (p.Val954=) n.838G>A n.1761G>A n.29G>A c.2016G>A (p.Val672=) c.2007G>A (p.Val669=) c.2982G>A (p.Val994=) c.2826G>A (p.Val942=) c.2052G>A (p.Val684=) c.2838G>A (p.Val946=) c.2883G>A (p.Val961=) c.2880G>A (p.Val960=) c.2871G>A (p.Val957=) c.2865G>A (p.Val955=) c.2856G>A (p.Val952=) c.2853G>A (p.Val951=) c.2823G>A (p.Val941=) c.2793G>A (p.Val931=) c.2088G>A (p.Val696=) c.2043G>A (p.Val681=) c.1923G>A (p.Val641=) c.2796G>A (p.Val932=) c.2835G>A (p.Val945=) c.2751G>A (p.Val917=) c.2781G>A (p.Val927=) c.2859G>A (p.Val953=) c.2850G>A (p.Val950=) c.2811G>A (p.Val937=) c.2820G>A (p.Val940=) c.2844G>A (p.Val948=) | dbSNP |
2 | g.50497351A>C | CA346776712 | NRXN1 | c.2861T>G (p.Val954Gly) n.837T>G n.1760T>G n.28T>G c.2015T>G (p.Val672Gly) c.2006T>G (p.Val669Gly) c.2981T>G (p.Val994Gly) c.2825T>G (p.Val942Gly) c.2051T>G (p.Val684Gly) c.2837T>G (p.Val946Gly) c.2882T>G (p.Val961Gly) c.2879T>G (p.Val960Gly) c.2870T>G (p.Val957Gly) c.2864T>G (p.Val955Gly) c.2855T>G (p.Val952Gly) c.2852T>G (p.Val951Gly) c.2822T>G (p.Val941Gly) c.2792T>G (p.Val931Gly) c.2087T>G (p.Val696Gly) c.2042T>G (p.Val681Gly) c.1922T>G (p.Val641Gly) c.2795T>G (p.Val932Gly) c.2834T>G (p.Val945Gly) c.2750T>G (p.Val917Gly) c.2780T>G (p.Val927Gly) c.2858T>G (p.Val953Gly) c.2849T>G (p.Val950Gly) c.2810T>G (p.Val937Gly) c.2819T>G (p.Val940Gly) c.2843T>G (p.Val948Gly) | |
2 | g.50497351A>G | CA346776713 | NRXN1 | c.2861T>C (p.Val954Ala) n.837T>C n.1760T>C n.28T>C c.2015T>C (p.Val672Ala) c.2006T>C (p.Val669Ala) c.2981T>C (p.Val994Ala) c.2825T>C (p.Val942Ala) c.2051T>C (p.Val684Ala) c.2837T>C (p.Val946Ala) c.2882T>C (p.Val961Ala) c.2879T>C (p.Val960Ala) c.2870T>C (p.Val957Ala) c.2864T>C (p.Val955Ala) c.2855T>C (p.Val952Ala) c.2852T>C (p.Val951Ala) c.2822T>C (p.Val941Ala) c.2792T>C (p.Val931Ala) c.2087T>C (p.Val696Ala) c.2042T>C (p.Val681Ala) c.1922T>C (p.Val641Ala) c.2795T>C (p.Val932Ala) c.2834T>C (p.Val945Ala) c.2750T>C (p.Val917Ala) c.2780T>C (p.Val927Ala) c.2858T>C (p.Val953Ala) c.2849T>C (p.Val950Ala) c.2810T>C (p.Val937Ala) c.2819T>C (p.Val940Ala) c.2843T>C (p.Val948Ala) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.50497351A>T | CA346776714 | NRXN1 | c.2861T>A (p.Val954Glu) n.837T>A n.1760T>A n.28T>A c.2015T>A (p.Val672Glu) c.2006T>A (p.Val669Glu) c.2981T>A (p.Val994Glu) c.2825T>A (p.Val942Glu) c.2051T>A (p.Val684Glu) c.2837T>A (p.Val946Glu) c.2882T>A (p.Val961Glu) c.2879T>A (p.Val960Glu) c.2870T>A (p.Val957Glu) c.2864T>A (p.Val955Glu) c.2855T>A (p.Val952Glu) c.2852T>A (p.Val951Glu) c.2822T>A (p.Val941Glu) c.2792T>A (p.Val931Glu) c.2087T>A (p.Val696Glu) c.2042T>A (p.Val681Glu) c.1922T>A (p.Val641Glu) c.2795T>A (p.Val932Glu) c.2834T>A (p.Val945Glu) c.2750T>A (p.Val917Glu) c.2780T>A (p.Val927Glu) c.2858T>A (p.Val953Glu) c.2849T>A (p.Val950Glu) c.2810T>A (p.Val937Glu) c.2819T>A (p.Val940Glu) c.2843T>A (p.Val948Glu) | |
2 | g.50497352C>A | CA346776715 | NRXN1 | c.2860G>T (p.Val954Leu) n.836G>T n.1759G>T n.27G>T c.2014G>T (p.Val672Leu) c.2005G>T (p.Val669Leu) c.2980G>T (p.Val994Leu) c.2824G>T (p.Val942Leu) c.2050G>T (p.Val684Leu) c.2836G>T (p.Val946Leu) c.2881G>T (p.Val961Leu) c.2878G>T (p.Val960Leu) c.2869G>T (p.Val957Leu) c.2863G>T (p.Val955Leu) c.2854G>T (p.Val952Leu) c.2851G>T (p.Val951Leu) c.2821G>T (p.Val941Leu) c.2791G>T (p.Val931Leu) c.2086G>T (p.Val696Leu) c.2041G>T (p.Val681Leu) c.1921G>T (p.Val641Leu) c.2794G>T (p.Val932Leu) c.2833G>T (p.Val945Leu) c.2749G>T (p.Val917Leu) c.2779G>T (p.Val927Leu) c.2857G>T (p.Val953Leu) c.2848G>T (p.Val950Leu) c.2809G>T (p.Val937Leu) c.2818G>T (p.Val940Leu) c.2842G>T (p.Val948Leu) | gnomAD v4 |
2 | g.50497352C>G | CA346776716 | NRXN1 | c.2860G>C (p.Val954Leu) n.836G>C n.1759G>C n.27G>C c.2014G>C (p.Val672Leu) c.2005G>C (p.Val669Leu) c.2980G>C (p.Val994Leu) c.2824G>C (p.Val942Leu) c.2050G>C (p.Val684Leu) c.2836G>C (p.Val946Leu) c.2881G>C (p.Val961Leu) c.2878G>C (p.Val960Leu) c.2869G>C (p.Val957Leu) c.2863G>C (p.Val955Leu) c.2854G>C (p.Val952Leu) c.2851G>C (p.Val951Leu) c.2821G>C (p.Val941Leu) c.2791G>C (p.Val931Leu) c.2086G>C (p.Val696Leu) c.2041G>C (p.Val681Leu) c.1921G>C (p.Val641Leu) c.2794G>C (p.Val932Leu) c.2833G>C (p.Val945Leu) c.2749G>C (p.Val917Leu) c.2779G>C (p.Val927Leu) c.2857G>C (p.Val953Leu) c.2848G>C (p.Val950Leu) c.2809G>C (p.Val937Leu) c.2818G>C (p.Val940Leu) c.2842G>C (p.Val948Leu) | |
2 | g.50497352C>T | CA346776717 | NRXN1 | c.2860G>A (p.Val954Met) n.836G>A n.1759G>A n.27G>A c.2014G>A (p.Val672Met) c.2005G>A (p.Val669Met) c.2980G>A (p.Val994Met) c.2824G>A (p.Val942Met) c.2050G>A (p.Val684Met) c.2836G>A (p.Val946Met) c.2881G>A (p.Val961Met) c.2878G>A (p.Val960Met) c.2869G>A (p.Val957Met) c.2863G>A (p.Val955Met) c.2854G>A (p.Val952Met) c.2851G>A (p.Val951Met) c.2821G>A (p.Val941Met) c.2791G>A (p.Val931Met) c.2086G>A (p.Val696Met) c.2041G>A (p.Val681Met) c.1921G>A (p.Val641Met) c.2794G>A (p.Val932Met) c.2833G>A (p.Val945Met) c.2749G>A (p.Val917Met) c.2779G>A (p.Val927Met) c.2857G>A (p.Val953Met) c.2848G>A (p.Val950Met) c.2809G>A (p.Val937Met) c.2818G>A (p.Val940Met) c.2842G>A (p.Val948Met) | |
2 | g.50497353A>C | CA346776718 | NRXN1 | c.2859T>G (p.Ile953Met) n.835T>G n.1758T>G n.26T>G c.2013T>G (p.Ile671Met) c.2004T>G (p.Ile668Met) c.2979T>G (p.Ile993Met) c.2823T>G (p.Ile941Met) c.2049T>G (p.Ile683Met) c.2835T>G (p.Ile945Met) c.2880T>G (p.Ile960Met) c.2877T>G (p.Ile959Met) c.2868T>G (p.Ile956Met) c.2862T>G (p.Ile954Met) c.2853T>G (p.Ile951Met) c.2850T>G (p.Ile950Met) c.2820T>G (p.Ile940Met) c.2790T>G (p.Ile930Met) c.2085T>G (p.Ile695Met) c.2040T>G (p.Ile680Met) c.1920T>G (p.Ile640Met) c.2793T>G (p.Ile931Met) c.2832T>G (p.Ile944Met) c.2748T>G (p.Ile916Met) c.2778T>G (p.Ile926Met) c.2856T>G (p.Ile952Met) c.2847T>G (p.Ile949Met) c.2808T>G (p.Ile936Met) c.2817T>G (p.Ile939Met) c.2841T>G (p.Ile947Met) | gnomAD v4 |
2 | g.50497353A>G | CA426023334 | NRXN1 | c.2859T>C (p.Ile953=) n.835T>C n.1758T>C n.26T>C c.2013T>C (p.Ile671=) c.2004T>C (p.Ile668=) c.2979T>C (p.Ile993=) c.2823T>C (p.Ile941=) c.2049T>C (p.Ile683=) c.2835T>C (p.Ile945=) c.2880T>C (p.Ile960=) c.2877T>C (p.Ile959=) c.2868T>C (p.Ile956=) c.2862T>C (p.Ile954=) c.2853T>C (p.Ile951=) c.2850T>C (p.Ile950=) c.2820T>C (p.Ile940=) c.2790T>C (p.Ile930=) c.2085T>C (p.Ile695=) c.2040T>C (p.Ile680=) c.1920T>C (p.Ile640=) c.2793T>C (p.Ile931=) c.2832T>C (p.Ile944=) c.2748T>C (p.Ile916=) c.2778T>C (p.Ile926=) c.2856T>C (p.Ile952=) c.2847T>C (p.Ile949=) c.2808T>C (p.Ile936=) c.2817T>C (p.Ile939=) c.2841T>C (p.Ile947=) | COSMIC COSMIC COSMIC COSMIC |
2 | g.50497353A>T | CA426023335 | NRXN1 | c.2859T>A (p.Ile953=) n.835T>A n.1758T>A n.26T>A c.2013T>A (p.Ile671=) c.2004T>A (p.Ile668=) c.2979T>A (p.Ile993=) c.2823T>A (p.Ile941=) c.2049T>A (p.Ile683=) c.2835T>A (p.Ile945=) c.2880T>A (p.Ile960=) c.2877T>A (p.Ile959=) c.2868T>A (p.Ile956=) c.2862T>A (p.Ile954=) c.2853T>A (p.Ile951=) c.2850T>A (p.Ile950=) c.2820T>A (p.Ile940=) c.2790T>A (p.Ile930=) c.2085T>A (p.Ile695=) c.2040T>A (p.Ile680=) c.1920T>A (p.Ile640=) c.2793T>A (p.Ile931=) c.2832T>A (p.Ile944=) c.2748T>A (p.Ile916=) c.2778T>A (p.Ile926=) c.2856T>A (p.Ile952=) c.2847T>A (p.Ile949=) c.2808T>A (p.Ile936=) c.2817T>A (p.Ile939=) c.2841T>A (p.Ile947=) | |
2 | g.50497354A>C | CA346776719 | NRXN1 | c.2858T>G (p.Ile953Ser) n.834T>G n.1757T>G n.25T>G c.2012T>G (p.Ile671Ser) c.2003T>G (p.Ile668Ser) c.2978T>G (p.Ile993Ser) c.2822T>G (p.Ile941Ser) c.2048T>G (p.Ile683Ser) c.2834T>G (p.Ile945Ser) c.2879T>G (p.Ile960Ser) c.2876T>G (p.Ile959Ser) c.2867T>G (p.Ile956Ser) c.2861T>G (p.Ile954Ser) c.2852T>G (p.Ile951Ser) c.2849T>G (p.Ile950Ser) c.2819T>G (p.Ile940Ser) c.2789T>G (p.Ile930Ser) c.2084T>G (p.Ile695Ser) c.2039T>G (p.Ile680Ser) c.1919T>G (p.Ile640Ser) c.2792T>G (p.Ile931Ser) c.2831T>G (p.Ile944Ser) c.2747T>G (p.Ile916Ser) c.2777T>G (p.Ile926Ser) c.2855T>G (p.Ile952Ser) c.2846T>G (p.Ile949Ser) c.2807T>G (p.Ile936Ser) c.2816T>G (p.Ile939Ser) c.2840T>G (p.Ile947Ser) | |
2 | g.50497354A>G | CA346776720 | NRXN1 | c.2858T>C (p.Ile953Thr) n.834T>C n.1757T>C n.25T>C c.2012T>C (p.Ile671Thr) c.2003T>C (p.Ile668Thr) c.2978T>C (p.Ile993Thr) c.2822T>C (p.Ile941Thr) c.2048T>C (p.Ile683Thr) c.2834T>C (p.Ile945Thr) c.2879T>C (p.Ile960Thr) c.2876T>C (p.Ile959Thr) c.2867T>C (p.Ile956Thr) c.2861T>C (p.Ile954Thr) c.2852T>C (p.Ile951Thr) c.2849T>C (p.Ile950Thr) c.2819T>C (p.Ile940Thr) c.2789T>C (p.Ile930Thr) c.2084T>C (p.Ile695Thr) c.2039T>C (p.Ile680Thr) c.1919T>C (p.Ile640Thr) c.2792T>C (p.Ile931Thr) c.2831T>C (p.Ile944Thr) c.2747T>C (p.Ile916Thr) c.2777T>C (p.Ile926Thr) c.2855T>C (p.Ile952Thr) c.2846T>C (p.Ile949Thr) c.2807T>C (p.Ile936Thr) c.2816T>C (p.Ile939Thr) c.2840T>C (p.Ile947Thr) | |
2 | g.50497354A>T | CA346776721 | NRXN1 | c.2858T>A (p.Ile953Asn) n.834T>A n.1757T>A n.25T>A c.2012T>A (p.Ile671Asn) c.2003T>A (p.Ile668Asn) c.2978T>A (p.Ile993Asn) c.2822T>A (p.Ile941Asn) c.2048T>A (p.Ile683Asn) c.2834T>A (p.Ile945Asn) c.2879T>A (p.Ile960Asn) c.2876T>A (p.Ile959Asn) c.2867T>A (p.Ile956Asn) c.2861T>A (p.Ile954Asn) c.2852T>A (p.Ile951Asn) c.2849T>A (p.Ile950Asn) c.2819T>A (p.Ile940Asn) c.2789T>A (p.Ile930Asn) c.2084T>A (p.Ile695Asn) c.2039T>A (p.Ile680Asn) c.1919T>A (p.Ile640Asn) c.2792T>A (p.Ile931Asn) c.2831T>A (p.Ile944Asn) c.2747T>A (p.Ile916Asn) c.2777T>A (p.Ile926Asn) c.2855T>A (p.Ile952Asn) c.2846T>A (p.Ile949Asn) c.2807T>A (p.Ile936Asn) c.2816T>A (p.Ile939Asn) c.2840T>A (p.Ile947Asn) | |
2 | g.50497355T>A | CA346776722 | NRXN1 | c.2857A>T (p.Ile953Phe) n.833A>T n.1756A>T n.24A>T c.2011A>T (p.Ile671Phe) c.2002A>T (p.Ile668Phe) c.2977A>T (p.Ile993Phe) c.2821A>T (p.Ile941Phe) c.2047A>T (p.Ile683Phe) c.2833A>T (p.Ile945Phe) c.2878A>T (p.Ile960Phe) c.2875A>T (p.Ile959Phe) c.2866A>T (p.Ile956Phe) c.2860A>T (p.Ile954Phe) c.2851A>T (p.Ile951Phe) c.2848A>T (p.Ile950Phe) c.2818A>T (p.Ile940Phe) c.2788A>T (p.Ile930Phe) c.2083A>T (p.Ile695Phe) c.2038A>T (p.Ile680Phe) c.1918A>T (p.Ile640Phe) c.2791A>T (p.Ile931Phe) c.2830A>T (p.Ile944Phe) c.2746A>T (p.Ile916Phe) c.2776A>T (p.Ile926Phe) c.2854A>T (p.Ile952Phe) c.2845A>T (p.Ile949Phe) c.2806A>T (p.Ile936Phe) c.2815A>T (p.Ile939Phe) c.2839A>T (p.Ile947Phe) | |
2 | g.50497355T>C | CA346776724 | NRXN1 | c.2857A>G (p.Ile953Val) n.833A>G n.1756A>G n.24A>G c.2011A>G (p.Ile671Val) c.2002A>G (p.Ile668Val) c.2977A>G (p.Ile993Val) c.2821A>G (p.Ile941Val) c.2047A>G (p.Ile683Val) c.2833A>G (p.Ile945Val) c.2878A>G (p.Ile960Val) c.2875A>G (p.Ile959Val) c.2866A>G (p.Ile956Val) c.2860A>G (p.Ile954Val) c.2851A>G (p.Ile951Val) c.2848A>G (p.Ile950Val) c.2818A>G (p.Ile940Val) c.2788A>G (p.Ile930Val) c.2083A>G (p.Ile695Val) c.2038A>G (p.Ile680Val) c.1918A>G (p.Ile640Val) c.2791A>G (p.Ile931Val) c.2830A>G (p.Ile944Val) c.2746A>G (p.Ile916Val) c.2776A>G (p.Ile926Val) c.2854A>G (p.Ile952Val) c.2845A>G (p.Ile949Val) c.2806A>G (p.Ile936Val) c.2815A>G (p.Ile939Val) c.2839A>G (p.Ile947Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.50497355T>G | CA346776723 | NRXN1 | c.2857A>C (p.Ile953Leu) n.833A>C n.1756A>C n.24A>C c.2011A>C (p.Ile671Leu) c.2002A>C (p.Ile668Leu) c.2977A>C (p.Ile993Leu) c.2821A>C (p.Ile941Leu) c.2047A>C (p.Ile683Leu) c.2833A>C (p.Ile945Leu) c.2878A>C (p.Ile960Leu) c.2875A>C (p.Ile959Leu) c.2866A>C (p.Ile956Leu) c.2860A>C (p.Ile954Leu) c.2851A>C (p.Ile951Leu) c.2848A>C (p.Ile950Leu) c.2818A>C (p.Ile940Leu) c.2788A>C (p.Ile930Leu) c.2083A>C (p.Ile695Leu) c.2038A>C (p.Ile680Leu) c.1918A>C (p.Ile640Leu) c.2791A>C (p.Ile931Leu) c.2830A>C (p.Ile944Leu) c.2746A>C (p.Ile916Leu) c.2776A>C (p.Ile926Leu) c.2854A>C (p.Ile952Leu) c.2845A>C (p.Ile949Leu) c.2806A>C (p.Ile936Leu) c.2815A>C (p.Ile939Leu) c.2839A>C (p.Ile947Leu) | gnomAD v4 |
2 | g.50497355T= | CA1249594721 | NRXN1 | c.2857A= (p.Ile953=) n.833A= n.1756A= n.24A= c.2011A= (p.Ile671=) c.2002A= (p.Ile668=) c.2977A= (p.Ile993=) c.2821A= (p.Ile941=) c.2047A= (p.Ile683=) c.2833A= (p.Ile945=) c.2878A= (p.Ile960=) c.2875A= (p.Ile959=) c.2866A= (p.Ile956=) c.2860A= (p.Ile954=) c.2851A= (p.Ile951=) c.2848A= (p.Ile950=) c.2818A= (p.Ile940=) c.2788A= (p.Ile930=) c.2083A= (p.Ile695=) c.2038A= (p.Ile680=) c.1918A= (p.Ile640=) c.2791A= (p.Ile931=) c.2830A= (p.Ile944=) c.2746A= (p.Ile916=) c.2776A= (p.Ile926=) c.2854A= (p.Ile952=) c.2845A= (p.Ile949=) c.2806A= (p.Ile936=) c.2815A= (p.Ile939=) c.2839A= (p.Ile947=) | |
2 | g.50497356A>C | CA346776725 | NRXN1 | c.2856T>G (p.Phe952Leu) n.832T>G n.1755T>G n.23T>G c.2010T>G (p.Phe670Leu) c.2001T>G (p.Phe667Leu) c.2976T>G (p.Phe992Leu) c.2820T>G (p.Phe940Leu) c.2046T>G (p.Phe682Leu) c.2832T>G (p.Phe944Leu) c.2877T>G (p.Phe959Leu) c.2874T>G (p.Phe958Leu) c.2865T>G (p.Phe955Leu) c.2859T>G (p.Phe953Leu) c.2850T>G (p.Phe950Leu) c.2847T>G (p.Phe949Leu) c.2817T>G (p.Phe939Leu) c.2787T>G (p.Phe929Leu) c.2082T>G (p.Phe694Leu) c.2037T>G (p.Phe679Leu) c.1917T>G (p.Phe639Leu) c.2790T>G (p.Phe930Leu) c.2829T>G (p.Phe943Leu) c.2745T>G (p.Phe915Leu) c.2775T>G (p.Phe925Leu) c.2853T>G (p.Phe951Leu) c.2844T>G (p.Phe948Leu) c.2805T>G (p.Phe935Leu) c.2814T>G (p.Phe938Leu) c.2838T>G (p.Phe946Leu) | |
2 | g.50497356A>G | CA426023336 | NRXN1 | c.2856T>C (p.Phe952=) n.832T>C n.1755T>C n.23T>C c.2010T>C (p.Phe670=) c.2001T>C (p.Phe667=) c.2976T>C (p.Phe992=) c.2820T>C (p.Phe940=) c.2046T>C (p.Phe682=) c.2832T>C (p.Phe944=) c.2877T>C (p.Phe959=) c.2874T>C (p.Phe958=) c.2865T>C (p.Phe955=) c.2859T>C (p.Phe953=) c.2850T>C (p.Phe950=) c.2847T>C (p.Phe949=) c.2817T>C (p.Phe939=) c.2787T>C (p.Phe929=) c.2082T>C (p.Phe694=) c.2037T>C (p.Phe679=) c.1917T>C (p.Phe639=) c.2790T>C (p.Phe930=) c.2829T>C (p.Phe943=) c.2745T>C (p.Phe915=) c.2775T>C (p.Phe925=) c.2853T>C (p.Phe951=) c.2844T>C (p.Phe948=) c.2805T>C (p.Phe935=) c.2814T>C (p.Phe938=) c.2838T>C (p.Phe946=) | gnomAD v4 |
2 | g.50497356A>T | CA346776726 | NRXN1 | c.2856T>A (p.Phe952Leu) n.832T>A n.1755T>A n.23T>A c.2010T>A (p.Phe670Leu) c.2001T>A (p.Phe667Leu) c.2976T>A (p.Phe992Leu) c.2820T>A (p.Phe940Leu) c.2046T>A (p.Phe682Leu) c.2832T>A (p.Phe944Leu) c.2877T>A (p.Phe959Leu) c.2874T>A (p.Phe958Leu) c.2865T>A (p.Phe955Leu) c.2859T>A (p.Phe953Leu) c.2850T>A (p.Phe950Leu) c.2847T>A (p.Phe949Leu) c.2817T>A (p.Phe939Leu) c.2787T>A (p.Phe929Leu) c.2082T>A (p.Phe694Leu) c.2037T>A (p.Phe679Leu) c.1917T>A (p.Phe639Leu) c.2790T>A (p.Phe930Leu) c.2829T>A (p.Phe943Leu) c.2745T>A (p.Phe915Leu) c.2775T>A (p.Phe925Leu) c.2853T>A (p.Phe951Leu) c.2844T>A (p.Phe948Leu) c.2805T>A (p.Phe935Leu) c.2814T>A (p.Phe938Leu) c.2838T>A (p.Phe946Leu) | |
2 | g.50497357A>C | CA346776727 | NRXN1 | c.2855T>G (p.Phe952Cys) n.831T>G n.1754T>G n.22T>G c.2009T>G (p.Phe670Cys) c.2000T>G (p.Phe667Cys) c.2975T>G (p.Phe992Cys) c.2819T>G (p.Phe940Cys) c.2045T>G (p.Phe682Cys) c.2831T>G (p.Phe944Cys) c.2876T>G (p.Phe959Cys) c.2873T>G (p.Phe958Cys) c.2864T>G (p.Phe955Cys) c.2858T>G (p.Phe953Cys) c.2849T>G (p.Phe950Cys) c.2846T>G (p.Phe949Cys) c.2816T>G (p.Phe939Cys) c.2786T>G (p.Phe929Cys) c.2081T>G (p.Phe694Cys) c.2036T>G (p.Phe679Cys) c.1916T>G (p.Phe639Cys) c.2789T>G (p.Phe930Cys) c.2828T>G (p.Phe943Cys) c.2744T>G (p.Phe915Cys) c.2774T>G (p.Phe925Cys) c.2852T>G (p.Phe951Cys) c.2843T>G (p.Phe948Cys) c.2804T>G (p.Phe935Cys) c.2813T>G (p.Phe938Cys) c.2837T>G (p.Phe946Cys) | |
2 | g.50497357A>G | CA346776728 | NRXN1 | c.2855T>C (p.Phe952Ser) n.831T>C n.1754T>C n.22T>C c.2009T>C (p.Phe670Ser) c.2000T>C (p.Phe667Ser) c.2975T>C (p.Phe992Ser) c.2819T>C (p.Phe940Ser) c.2045T>C (p.Phe682Ser) c.2831T>C (p.Phe944Ser) c.2876T>C (p.Phe959Ser) c.2873T>C (p.Phe958Ser) c.2864T>C (p.Phe955Ser) c.2858T>C (p.Phe953Ser) c.2849T>C (p.Phe950Ser) c.2846T>C (p.Phe949Ser) c.2816T>C (p.Phe939Ser) c.2786T>C (p.Phe929Ser) c.2081T>C (p.Phe694Ser) c.2036T>C (p.Phe679Ser) c.1916T>C (p.Phe639Ser) c.2789T>C (p.Phe930Ser) c.2828T>C (p.Phe943Ser) c.2744T>C (p.Phe915Ser) c.2774T>C (p.Phe925Ser) c.2852T>C (p.Phe951Ser) c.2843T>C (p.Phe948Ser) c.2804T>C (p.Phe935Ser) c.2813T>C (p.Phe938Ser) c.2837T>C (p.Phe946Ser) | |
2 | g.50497357A>T | CA346776729 | NRXN1 | c.2855T>A (p.Phe952Tyr) n.831T>A n.1754T>A n.22T>A c.2009T>A (p.Phe670Tyr) c.2000T>A (p.Phe667Tyr) c.2975T>A (p.Phe992Tyr) c.2819T>A (p.Phe940Tyr) c.2045T>A (p.Phe682Tyr) c.2831T>A (p.Phe944Tyr) c.2876T>A (p.Phe959Tyr) c.2873T>A (p.Phe958Tyr) c.2864T>A (p.Phe955Tyr) c.2858T>A (p.Phe953Tyr) c.2849T>A (p.Phe950Tyr) c.2846T>A (p.Phe949Tyr) c.2816T>A (p.Phe939Tyr) c.2786T>A (p.Phe929Tyr) c.2081T>A (p.Phe694Tyr) c.2036T>A (p.Phe679Tyr) c.1916T>A (p.Phe639Tyr) c.2789T>A (p.Phe930Tyr) c.2828T>A (p.Phe943Tyr) c.2744T>A (p.Phe915Tyr) c.2774T>A (p.Phe925Tyr) c.2852T>A (p.Phe951Tyr) c.2843T>A (p.Phe948Tyr) c.2804T>A (p.Phe935Tyr) c.2813T>A (p.Phe938Tyr) c.2837T>A (p.Phe946Tyr) | |
2 | g.50497358A>C | CA346776730 | NRXN1 | c.2854T>G (p.Phe952Val) n.830T>G n.1753T>G n.21T>G c.2008T>G (p.Phe670Val) c.1999T>G (p.Phe667Val) c.2974T>G (p.Phe992Val) c.2818T>G (p.Phe940Val) c.2044T>G (p.Phe682Val) c.2830T>G (p.Phe944Val) c.2875T>G (p.Phe959Val) c.2872T>G (p.Phe958Val) c.2863T>G (p.Phe955Val) c.2857T>G (p.Phe953Val) c.2848T>G (p.Phe950Val) c.2845T>G (p.Phe949Val) c.2815T>G (p.Phe939Val) c.2785T>G (p.Phe929Val) c.2080T>G (p.Phe694Val) c.2035T>G (p.Phe679Val) c.1915T>G (p.Phe639Val) c.2788T>G (p.Phe930Val) c.2827T>G (p.Phe943Val) c.2743T>G (p.Phe915Val) c.2773T>G (p.Phe925Val) c.2851T>G (p.Phe951Val) c.2842T>G (p.Phe948Val) c.2803T>G (p.Phe935Val) c.2812T>G (p.Phe938Val) c.2836T>G (p.Phe946Val) | COSMIC |
2 | g.50497358A>G | CA346776731 | NRXN1 | c.2854T>C (p.Phe952Leu) n.830T>C n.1753T>C n.21T>C c.2008T>C (p.Phe670Leu) c.1999T>C (p.Phe667Leu) c.2974T>C (p.Phe992Leu) c.2818T>C (p.Phe940Leu) c.2044T>C (p.Phe682Leu) c.2830T>C (p.Phe944Leu) c.2875T>C (p.Phe959Leu) c.2872T>C (p.Phe958Leu) c.2863T>C (p.Phe955Leu) c.2857T>C (p.Phe953Leu) c.2848T>C (p.Phe950Leu) c.2845T>C (p.Phe949Leu) c.2815T>C (p.Phe939Leu) c.2785T>C (p.Phe929Leu) c.2080T>C (p.Phe694Leu) c.2035T>C (p.Phe679Leu) c.1915T>C (p.Phe639Leu) c.2788T>C (p.Phe930Leu) c.2827T>C (p.Phe943Leu) c.2743T>C (p.Phe915Leu) c.2773T>C (p.Phe925Leu) c.2851T>C (p.Phe951Leu) c.2842T>C (p.Phe948Leu) c.2803T>C (p.Phe935Leu) c.2812T>C (p.Phe938Leu) c.2836T>C (p.Phe946Leu) | |
2 | g.50497358A>T | CA346776732 | NRXN1 | c.2854T>A (p.Phe952Ile) n.830T>A n.1753T>A n.21T>A c.2008T>A (p.Phe670Ile) c.1999T>A (p.Phe667Ile) c.2974T>A (p.Phe992Ile) c.2818T>A (p.Phe940Ile) c.2044T>A (p.Phe682Ile) c.2830T>A (p.Phe944Ile) c.2875T>A (p.Phe959Ile) c.2872T>A (p.Phe958Ile) c.2863T>A (p.Phe955Ile) c.2857T>A (p.Phe953Ile) c.2848T>A (p.Phe950Ile) c.2845T>A (p.Phe949Ile) c.2815T>A (p.Phe939Ile) c.2785T>A (p.Phe929Ile) c.2080T>A (p.Phe694Ile) c.2035T>A (p.Phe679Ile) c.1915T>A (p.Phe639Ile) c.2788T>A (p.Phe930Ile) c.2827T>A (p.Phe943Ile) c.2743T>A (p.Phe915Ile) c.2773T>A (p.Phe925Ile) c.2851T>A (p.Phe951Ile) c.2842T>A (p.Phe948Ile) c.2803T>A (p.Phe935Ile) c.2812T>A (p.Phe938Ile) c.2836T>A (p.Phe946Ile) | |
2 | g.50497359G>A | CA426023337 | NRXN1 | c.2853C>T (p.Asp951=) n.829C>T n.1752C>T n.20C>T c.2007C>T (p.Asp669=) c.1998C>T (p.Asp666=) c.2973C>T (p.Asp991=) c.2817C>T (p.Asp939=) c.2043C>T (p.Asp681=) c.2829C>T (p.Asp943=) c.2874C>T (p.Asp958=) c.2871C>T (p.Asp957=) c.2862C>T (p.Asp954=) c.2856C>T (p.Asp952=) c.2847C>T (p.Asp949=) c.2844C>T (p.Asp948=) c.2814C>T (p.Asp938=) c.2784C>T (p.Asp928=) c.2079C>T (p.Asp693=) c.2034C>T (p.Asp678=) c.1914C>T (p.Asp638=) c.2787C>T (p.Asp929=) c.2826C>T (p.Asp942=) c.2742C>T (p.Asp914=) c.2772C>T (p.Asp924=) c.2850C>T (p.Asp950=) c.2841C>T (p.Asp947=) c.2802C>T (p.Asp934=) c.2811C>T (p.Asp937=) c.2835C>T (p.Asp945=) | ClinVar dbSNP gnomAD v4 |
2 | g.50497359G>C | CA346776733 | NRXN1 | c.2853C>G (p.Asp951Glu) n.829C>G n.1752C>G n.20C>G c.2007C>G (p.Asp669Glu) c.1998C>G (p.Asp666Glu) c.2973C>G (p.Asp991Glu) c.2817C>G (p.Asp939Glu) c.2043C>G (p.Asp681Glu) c.2829C>G (p.Asp943Glu) c.2874C>G (p.Asp958Glu) c.2871C>G (p.Asp957Glu) c.2862C>G (p.Asp954Glu) c.2856C>G (p.Asp952Glu) c.2847C>G (p.Asp949Glu) c.2844C>G (p.Asp948Glu) c.2814C>G (p.Asp938Glu) c.2784C>G (p.Asp928Glu) c.2079C>G (p.Asp693Glu) c.2034C>G (p.Asp678Glu) c.1914C>G (p.Asp638Glu) c.2787C>G (p.Asp929Glu) c.2826C>G (p.Asp942Glu) c.2742C>G (p.Asp914Glu) c.2772C>G (p.Asp924Glu) c.2850C>G (p.Asp950Glu) c.2841C>G (p.Asp947Glu) c.2802C>G (p.Asp934Glu) c.2811C>G (p.Asp937Glu) c.2835C>G (p.Asp945Glu) | |
2 | g.50497359G= | CA1249594722 | NRXN1 | c.2853C= (p.Asp951=) n.829C= n.1752C= n.20C= c.2007C= (p.Asp669=) c.1998C= (p.Asp666=) c.2973C= (p.Asp991=) c.2817C= (p.Asp939=) c.2043C= (p.Asp681=) c.2829C= (p.Asp943=) c.2874C= (p.Asp958=) c.2871C= (p.Asp957=) c.2862C= (p.Asp954=) c.2856C= (p.Asp952=) c.2847C= (p.Asp949=) c.2844C= (p.Asp948=) c.2814C= (p.Asp938=) c.2784C= (p.Asp928=) c.2079C= (p.Asp693=) c.2034C= (p.Asp678=) c.1914C= (p.Asp638=) c.2787C= (p.Asp929=) c.2826C= (p.Asp942=) c.2742C= (p.Asp914=) c.2772C= (p.Asp924=) c.2850C= (p.Asp950=) c.2841C= (p.Asp947=) c.2802C= (p.Asp934=) c.2811C= (p.Asp937=) c.2835C= (p.Asp945=) | |
2 | g.50497359G>T | CA346776734 | NRXN1 | c.2853C>A (p.Asp951Glu) n.829C>A n.1752C>A n.20C>A c.2007C>A (p.Asp669Glu) c.1998C>A (p.Asp666Glu) c.2973C>A (p.Asp991Glu) c.2817C>A (p.Asp939Glu) c.2043C>A (p.Asp681Glu) c.2829C>A (p.Asp943Glu) c.2874C>A (p.Asp958Glu) c.2871C>A (p.Asp957Glu) c.2862C>A (p.Asp954Glu) c.2856C>A (p.Asp952Glu) c.2847C>A (p.Asp949Glu) c.2844C>A (p.Asp948Glu) c.2814C>A (p.Asp938Glu) c.2784C>A (p.Asp928Glu) c.2079C>A (p.Asp693Glu) c.2034C>A (p.Asp678Glu) c.1914C>A (p.Asp638Glu) c.2787C>A (p.Asp929Glu) c.2826C>A (p.Asp942Glu) c.2742C>A (p.Asp914Glu) c.2772C>A (p.Asp924Glu) c.2850C>A (p.Asp950Glu) c.2841C>A (p.Asp947Glu) c.2802C>A (p.Asp934Glu) c.2811C>A (p.Asp937Glu) c.2835C>A (p.Asp945Glu) | |
2 | g.50497360T>A | CA346776737 | NRXN1 | c.2852A>T (p.Asp951Val) n.828A>T n.1751A>T n.19A>T c.2006A>T (p.Asp669Val) c.1997A>T (p.Asp666Val) c.2972A>T (p.Asp991Val) c.2816A>T (p.Asp939Val) c.2042A>T (p.Asp681Val) c.2828A>T (p.Asp943Val) c.2873A>T (p.Asp958Val) c.2870A>T (p.Asp957Val) c.2861A>T (p.Asp954Val) c.2855A>T (p.Asp952Val) c.2846A>T (p.Asp949Val) c.2843A>T (p.Asp948Val) c.2813A>T (p.Asp938Val) c.2783A>T (p.Asp928Val) c.2078A>T (p.Asp693Val) c.2033A>T (p.Asp678Val) c.1913A>T (p.Asp638Val) c.2786A>T (p.Asp929Val) c.2825A>T (p.Asp942Val) c.2741A>T (p.Asp914Val) c.2771A>T (p.Asp924Val) c.2849A>T (p.Asp950Val) c.2840A>T (p.Asp947Val) c.2801A>T (p.Asp934Val) c.2810A>T (p.Asp937Val) c.2834A>T (p.Asp945Val) | |
2 | g.50497360T>C | CA346776736 | NRXN1 | c.2852A>G (p.Asp951Gly) n.828A>G n.1751A>G n.19A>G c.2006A>G (p.Asp669Gly) c.1997A>G (p.Asp666Gly) c.2972A>G (p.Asp991Gly) c.2816A>G (p.Asp939Gly) c.2042A>G (p.Asp681Gly) c.2828A>G (p.Asp943Gly) c.2873A>G (p.Asp958Gly) c.2870A>G (p.Asp957Gly) c.2861A>G (p.Asp954Gly) c.2855A>G (p.Asp952Gly) c.2846A>G (p.Asp949Gly) c.2843A>G (p.Asp948Gly) c.2813A>G (p.Asp938Gly) c.2783A>G (p.Asp928Gly) c.2078A>G (p.Asp693Gly) c.2033A>G (p.Asp678Gly) c.1913A>G (p.Asp638Gly) c.2786A>G (p.Asp929Gly) c.2825A>G (p.Asp942Gly) c.2741A>G (p.Asp914Gly) c.2771A>G (p.Asp924Gly) c.2849A>G (p.Asp950Gly) c.2840A>G (p.Asp947Gly) c.2801A>G (p.Asp934Gly) c.2810A>G (p.Asp937Gly) c.2834A>G (p.Asp945Gly) | |
2 | g.50497360T>G | CA346776735 | NRXN1 | c.2852A>C (p.Asp951Ala) n.828A>C n.1751A>C n.19A>C c.2006A>C (p.Asp669Ala) c.1997A>C (p.Asp666Ala) c.2972A>C (p.Asp991Ala) c.2816A>C (p.Asp939Ala) c.2042A>C (p.Asp681Ala) c.2828A>C (p.Asp943Ala) c.2873A>C (p.Asp958Ala) c.2870A>C (p.Asp957Ala) c.2861A>C (p.Asp954Ala) c.2855A>C (p.Asp952Ala) c.2846A>C (p.Asp949Ala) c.2843A>C (p.Asp948Ala) c.2813A>C (p.Asp938Ala) c.2783A>C (p.Asp928Ala) c.2078A>C (p.Asp693Ala) c.2033A>C (p.Asp678Ala) c.1913A>C (p.Asp638Ala) c.2786A>C (p.Asp929Ala) c.2825A>C (p.Asp942Ala) c.2741A>C (p.Asp914Ala) c.2771A>C (p.Asp924Ala) c.2849A>C (p.Asp950Ala) c.2840A>C (p.Asp947Ala) c.2801A>C (p.Asp934Ala) c.2810A>C (p.Asp937Ala) c.2834A>C (p.Asp945Ala) | |
2 | g.50497361C>A | CA346776738 | NRXN1 | c.2851G>T (p.Asp951Tyr) n.827G>T n.1750G>T n.18G>T c.2005G>T (p.Asp669Tyr) c.1996G>T (p.Asp666Tyr) c.2971G>T (p.Asp991Tyr) c.2815G>T (p.Asp939Tyr) c.2041G>T (p.Asp681Tyr) c.2827G>T (p.Asp943Tyr) c.2872G>T (p.Asp958Tyr) c.2869G>T (p.Asp957Tyr) c.2860G>T (p.Asp954Tyr) c.2854G>T (p.Asp952Tyr) c.2845G>T (p.Asp949Tyr) c.2842G>T (p.Asp948Tyr) c.2812G>T (p.Asp938Tyr) c.2782G>T (p.Asp928Tyr) c.2077G>T (p.Asp693Tyr) c.2032G>T (p.Asp678Tyr) c.1912G>T (p.Asp638Tyr) c.2785G>T (p.Asp929Tyr) c.2824G>T (p.Asp942Tyr) c.2740G>T (p.Asp914Tyr) c.2770G>T (p.Asp924Tyr) c.2848G>T (p.Asp950Tyr) c.2839G>T (p.Asp947Tyr) c.2800G>T (p.Asp934Tyr) c.2809G>T (p.Asp937Tyr) c.2833G>T (p.Asp945Tyr) | dbSNP gnomAD v4 |
2 | g.50497361C= | CA1249594723 | NRXN1 | c.2851G= (p.Asp951=) n.827G= n.1750G= n.18G= c.2005G= (p.Asp669=) c.1996G= (p.Asp666=) c.2971G= (p.Asp991=) c.2815G= (p.Asp939=) c.2041G= (p.Asp681=) c.2827G= (p.Asp943=) c.2872G= (p.Asp958=) c.2869G= (p.Asp957=) c.2860G= (p.Asp954=) c.2854G= (p.Asp952=) c.2845G= (p.Asp949=) c.2842G= (p.Asp948=) c.2812G= (p.Asp938=) c.2782G= (p.Asp928=) c.2077G= (p.Asp693=) c.2032G= (p.Asp678=) c.1912G= (p.Asp638=) c.2785G= (p.Asp929=) c.2824G= (p.Asp942=) c.2740G= (p.Asp914=) c.2770G= (p.Asp924=) c.2848G= (p.Asp950=) c.2839G= (p.Asp947=) c.2800G= (p.Asp934=) c.2809G= (p.Asp937=) c.2833G= (p.Asp945=) | |
2 | g.50497361C>G | CA346776739 | NRXN1 | c.2851G>C (p.Asp951His) n.827G>C n.1750G>C n.18G>C c.2005G>C (p.Asp669His) c.1996G>C (p.Asp666His) c.2971G>C (p.Asp991His) c.2815G>C (p.Asp939His) c.2041G>C (p.Asp681His) c.2827G>C (p.Asp943His) c.2872G>C (p.Asp958His) c.2869G>C (p.Asp957His) c.2860G>C (p.Asp954His) c.2854G>C (p.Asp952His) c.2845G>C (p.Asp949His) c.2842G>C (p.Asp948His) c.2812G>C (p.Asp938His) c.2782G>C (p.Asp928His) c.2077G>C (p.Asp693His) c.2032G>C (p.Asp678His) c.1912G>C (p.Asp638His) c.2785G>C (p.Asp929His) c.2824G>C (p.Asp942His) c.2740G>C (p.Asp914His) c.2770G>C (p.Asp924His) c.2848G>C (p.Asp950His) c.2839G>C (p.Asp947His) c.2800G>C (p.Asp934His) c.2809G>C (p.Asp937His) c.2833G>C (p.Asp945His) | |
2 | g.50497361C>T | CA346776740 | NRXN1 | c.2851G>A (p.Asp951Asn) n.827G>A n.1750G>A n.18G>A c.2005G>A (p.Asp669Asn) c.1996G>A (p.Asp666Asn) c.2971G>A (p.Asp991Asn) c.2815G>A (p.Asp939Asn) c.2041G>A (p.Asp681Asn) c.2827G>A (p.Asp943Asn) c.2872G>A (p.Asp958Asn) c.2869G>A (p.Asp957Asn) c.2860G>A (p.Asp954Asn) c.2854G>A (p.Asp952Asn) c.2845G>A (p.Asp949Asn) c.2842G>A (p.Asp948Asn) c.2812G>A (p.Asp938Asn) c.2782G>A (p.Asp928Asn) c.2077G>A (p.Asp693Asn) c.2032G>A (p.Asp678Asn) c.1912G>A (p.Asp638Asn) c.2785G>A (p.Asp929Asn) c.2824G>A (p.Asp942Asn) c.2740G>A (p.Asp914Asn) c.2770G>A (p.Asp924Asn) c.2848G>A (p.Asp950Asn) c.2839G>A (p.Asp947Asn) c.2800G>A (p.Asp934Asn) c.2809G>A (p.Asp937Asn) c.2833G>A (p.Asp945Asn) | |
2 | g.50497362A= | CA1249594724 | NRXN1 | c.2850T= (p.Asn950=) n.826T= n.1749T= n.17T= c.2004T= (p.Asn668=) c.1995T= (p.Asn665=) c.2970T= (p.Asn990=) c.2814T= (p.Asn938=) c.2040T= (p.Asn680=) c.2826T= (p.Asn942=) c.2871T= (p.Asn957=) c.2868T= (p.Asn956=) c.2859T= (p.Asn953=) c.2853T= (p.Asn951=) c.2844T= (p.Asn948=) c.2841T= (p.Asn947=) c.2811T= (p.Asn937=) c.2781T= (p.Asn927=) c.2076T= (p.Asn692=) c.2031T= (p.Asn677=) c.1911T= (p.Asn637=) c.2784T= (p.Asn928=) c.2823T= (p.Asn941=) c.2739T= (p.Asn913=) c.2769T= (p.Asn923=) c.2847T= (p.Asn949=) c.2838T= (p.Asn946=) c.2799T= (p.Asn933=) c.2808T= (p.Asn936=) c.2832T= (p.Asn944=) | |
2 | g.50497362A>C | CA346776741 | NRXN1 | c.2850T>G (p.Asn950Lys) n.826T>G n.1749T>G n.17T>G c.2004T>G (p.Asn668Lys) c.1995T>G (p.Asn665Lys) c.2970T>G (p.Asn990Lys) c.2814T>G (p.Asn938Lys) c.2040T>G (p.Asn680Lys) c.2826T>G (p.Asn942Lys) c.2871T>G (p.Asn957Lys) c.2868T>G (p.Asn956Lys) c.2859T>G (p.Asn953Lys) c.2853T>G (p.Asn951Lys) c.2844T>G (p.Asn948Lys) c.2841T>G (p.Asn947Lys) c.2811T>G (p.Asn937Lys) c.2781T>G (p.Asn927Lys) c.2076T>G (p.Asn692Lys) c.2031T>G (p.Asn677Lys) c.1911T>G (p.Asn637Lys) c.2784T>G (p.Asn928Lys) c.2823T>G (p.Asn941Lys) c.2739T>G (p.Asn913Lys) c.2769T>G (p.Asn923Lys) c.2847T>G (p.Asn949Lys) c.2838T>G (p.Asn946Lys) c.2799T>G (p.Asn933Lys) c.2808T>G (p.Asn936Lys) c.2832T>G (p.Asn944Lys) | |
2 | g.50497362A>G | CA426023338 | NRXN1 | c.2850T>C (p.Asn950=) n.826T>C n.1749T>C n.17T>C c.2004T>C (p.Asn668=) c.1995T>C (p.Asn665=) c.2970T>C (p.Asn990=) c.2814T>C (p.Asn938=) c.2040T>C (p.Asn680=) c.2826T>C (p.Asn942=) c.2871T>C (p.Asn957=) c.2868T>C (p.Asn956=) c.2859T>C (p.Asn953=) c.2853T>C (p.Asn951=) c.2844T>C (p.Asn948=) c.2841T>C (p.Asn947=) c.2811T>C (p.Asn937=) c.2781T>C (p.Asn927=) c.2076T>C (p.Asn692=) c.2031T>C (p.Asn677=) c.1911T>C (p.Asn637=) c.2784T>C (p.Asn928=) c.2823T>C (p.Asn941=) c.2739T>C (p.Asn913=) c.2769T>C (p.Asn923=) c.2847T>C (p.Asn949=) c.2838T>C (p.Asn946=) c.2799T>C (p.Asn933=) c.2808T>C (p.Asn936=) c.2832T>C (p.Asn944=) | dbSNP gnomAD v4 |
2 | g.50497362A>T | CA346776742 | NRXN1 | c.2850T>A (p.Asn950Lys) n.826T>A n.1749T>A n.17T>A c.2004T>A (p.Asn668Lys) c.1995T>A (p.Asn665Lys) c.2970T>A (p.Asn990Lys) c.2814T>A (p.Asn938Lys) c.2040T>A (p.Asn680Lys) c.2826T>A (p.Asn942Lys) c.2871T>A (p.Asn957Lys) c.2868T>A (p.Asn956Lys) c.2859T>A (p.Asn953Lys) c.2853T>A (p.Asn951Lys) c.2844T>A (p.Asn948Lys) c.2841T>A (p.Asn947Lys) c.2811T>A (p.Asn937Lys) c.2781T>A (p.Asn927Lys) c.2076T>A (p.Asn692Lys) c.2031T>A (p.Asn677Lys) c.1911T>A (p.Asn637Lys) c.2784T>A (p.Asn928Lys) c.2823T>A (p.Asn941Lys) c.2739T>A (p.Asn913Lys) c.2769T>A (p.Asn923Lys) c.2847T>A (p.Asn949Lys) c.2838T>A (p.Asn946Lys) c.2799T>A (p.Asn933Lys) c.2808T>A (p.Asn936Lys) c.2832T>A (p.Asn944Lys) | |
2 | g.50497363T>A | CA346776745 | NRXN1 | c.2849A>T (p.Asn950Ile) n.825A>T n.1748A>T n.16A>T c.2003A>T (p.Asn668Ile) c.1994A>T (p.Asn665Ile) c.2969A>T (p.Asn990Ile) c.2813A>T (p.Asn938Ile) c.2039A>T (p.Asn680Ile) c.2825A>T (p.Asn942Ile) c.2870A>T (p.Asn957Ile) c.2867A>T (p.Asn956Ile) c.2858A>T (p.Asn953Ile) c.2852A>T (p.Asn951Ile) c.2843A>T (p.Asn948Ile) c.2840A>T (p.Asn947Ile) c.2810A>T (p.Asn937Ile) c.2780A>T (p.Asn927Ile) c.2075A>T (p.Asn692Ile) c.2030A>T (p.Asn677Ile) c.1910A>T (p.Asn637Ile) c.2783A>T (p.Asn928Ile) c.2822A>T (p.Asn941Ile) c.2738A>T (p.Asn913Ile) c.2768A>T (p.Asn923Ile) c.2846A>T (p.Asn949Ile) c.2837A>T (p.Asn946Ile) c.2798A>T (p.Asn933Ile) c.2807A>T (p.Asn936Ile) c.2831A>T (p.Asn944Ile) | |
2 | g.50497363T>C | CA346776744 | NRXN1 | c.2849A>G (p.Asn950Ser) n.825A>G n.1748A>G n.16A>G c.2003A>G (p.Asn668Ser) c.1994A>G (p.Asn665Ser) c.2969A>G (p.Asn990Ser) c.2813A>G (p.Asn938Ser) c.2039A>G (p.Asn680Ser) c.2825A>G (p.Asn942Ser) c.2870A>G (p.Asn957Ser) c.2867A>G (p.Asn956Ser) c.2858A>G (p.Asn953Ser) c.2852A>G (p.Asn951Ser) c.2843A>G (p.Asn948Ser) c.2840A>G (p.Asn947Ser) c.2810A>G (p.Asn937Ser) c.2780A>G (p.Asn927Ser) c.2075A>G (p.Asn692Ser) c.2030A>G (p.Asn677Ser) c.1910A>G (p.Asn637Ser) c.2783A>G (p.Asn928Ser) c.2822A>G (p.Asn941Ser) c.2738A>G (p.Asn913Ser) c.2768A>G (p.Asn923Ser) c.2846A>G (p.Asn949Ser) c.2837A>G (p.Asn946Ser) c.2798A>G (p.Asn933Ser) c.2807A>G (p.Asn936Ser) c.2831A>G (p.Asn944Ser) | |
2 | g.50497363T>G | CA346776743 | NRXN1 | c.2849A>C (p.Asn950Thr) n.825A>C n.1748A>C n.16A>C c.2003A>C (p.Asn668Thr) c.1994A>C (p.Asn665Thr) c.2969A>C (p.Asn990Thr) c.2813A>C (p.Asn938Thr) c.2039A>C (p.Asn680Thr) c.2825A>C (p.Asn942Thr) c.2870A>C (p.Asn957Thr) c.2867A>C (p.Asn956Thr) c.2858A>C (p.Asn953Thr) c.2852A>C (p.Asn951Thr) c.2843A>C (p.Asn948Thr) c.2840A>C (p.Asn947Thr) c.2810A>C (p.Asn937Thr) c.2780A>C (p.Asn927Thr) c.2075A>C (p.Asn692Thr) c.2030A>C (p.Asn677Thr) c.1910A>C (p.Asn637Thr) c.2783A>C (p.Asn928Thr) c.2822A>C (p.Asn941Thr) c.2738A>C (p.Asn913Thr) c.2768A>C (p.Asn923Thr) c.2846A>C (p.Asn949Thr) c.2837A>C (p.Asn946Thr) c.2798A>C (p.Asn933Thr) c.2807A>C (p.Asn936Thr) c.2831A>C (p.Asn944Thr) | |
2 | g.50497364T>A | CA346776746 | NRXN1 | c.2848A>T (p.Asn950Tyr) n.824A>T n.1747A>T n.15A>T c.2002A>T (p.Asn668Tyr) c.1993A>T (p.Asn665Tyr) c.2968A>T (p.Asn990Tyr) c.2812A>T (p.Asn938Tyr) c.2038A>T (p.Asn680Tyr) c.2824A>T (p.Asn942Tyr) c.2869A>T (p.Asn957Tyr) c.2866A>T (p.Asn956Tyr) c.2857A>T (p.Asn953Tyr) c.2851A>T (p.Asn951Tyr) c.2842A>T (p.Asn948Tyr) c.2839A>T (p.Asn947Tyr) c.2809A>T (p.Asn937Tyr) c.2779A>T (p.Asn927Tyr) c.2074A>T (p.Asn692Tyr) c.2029A>T (p.Asn677Tyr) c.1909A>T (p.Asn637Tyr) c.2782A>T (p.Asn928Tyr) c.2821A>T (p.Asn941Tyr) c.2737A>T (p.Asn913Tyr) c.2767A>T (p.Asn923Tyr) c.2845A>T (p.Asn949Tyr) c.2836A>T (p.Asn946Tyr) c.2797A>T (p.Asn933Tyr) c.2806A>T (p.Asn936Tyr) c.2830A>T (p.Asn944Tyr) | |
2 | g.50497364T>C | CA346776747 | NRXN1 | c.2848A>G (p.Asn950Asp) n.824A>G n.1747A>G n.15A>G c.2002A>G (p.Asn668Asp) c.1993A>G (p.Asn665Asp) c.2968A>G (p.Asn990Asp) c.2812A>G (p.Asn938Asp) c.2038A>G (p.Asn680Asp) c.2824A>G (p.Asn942Asp) c.2869A>G (p.Asn957Asp) c.2866A>G (p.Asn956Asp) c.2857A>G (p.Asn953Asp) c.2851A>G (p.Asn951Asp) c.2842A>G (p.Asn948Asp) c.2839A>G (p.Asn947Asp) c.2809A>G (p.Asn937Asp) c.2779A>G (p.Asn927Asp) c.2074A>G (p.Asn692Asp) c.2029A>G (p.Asn677Asp) c.1909A>G (p.Asn637Asp) c.2782A>G (p.Asn928Asp) c.2821A>G (p.Asn941Asp) c.2737A>G (p.Asn913Asp) c.2767A>G (p.Asn923Asp) c.2845A>G (p.Asn949Asp) c.2836A>G (p.Asn946Asp) c.2797A>G (p.Asn933Asp) c.2806A>G (p.Asn936Asp) c.2830A>G (p.Asn944Asp) | |
2 | g.50497364T>G | CA346776748 | NRXN1 | c.2848A>C (p.Asn950His) n.824A>C n.1747A>C n.15A>C c.2002A>C (p.Asn668His) c.1993A>C (p.Asn665His) c.2968A>C (p.Asn990His) c.2812A>C (p.Asn938His) c.2038A>C (p.Asn680His) c.2824A>C (p.Asn942His) c.2869A>C (p.Asn957His) c.2866A>C (p.Asn956His) c.2857A>C (p.Asn953His) c.2851A>C (p.Asn951His) c.2842A>C (p.Asn948His) c.2839A>C (p.Asn947His) c.2809A>C (p.Asn937His) c.2779A>C (p.Asn927His) c.2074A>C (p.Asn692His) c.2029A>C (p.Asn677His) c.1909A>C (p.Asn637His) c.2782A>C (p.Asn928His) c.2821A>C (p.Asn941His) c.2737A>C (p.Asn913His) c.2767A>C (p.Asn923His) c.2845A>C (p.Asn949His) c.2836A>C (p.Asn946His) c.2797A>C (p.Asn933His) c.2806A>C (p.Asn936His) c.2830A>C (p.Asn944His) | gnomAD v4 |
2 | g.50497365T>A | CA426023339 | NRXN1 | c.2847A>T (p.Gly949=) n.823A>T n.1746A>T n.14A>T c.2001A>T (p.Gly667=) c.1992A>T (p.Gly664=) c.2967A>T (p.Gly989=) c.2811A>T (p.Gly937=) c.2037A>T (p.Gly679=) c.2823A>T (p.Gly941=) c.2868A>T (p.Gly956=) c.2865A>T (p.Gly955=) c.2856A>T (p.Gly952=) c.2850A>T (p.Gly950=) c.2841A>T (p.Gly947=) c.2838A>T (p.Gly946=) c.2808A>T (p.Gly936=) c.2778A>T (p.Gly926=) c.2073A>T (p.Gly691=) c.2028A>T (p.Gly676=) c.1908A>T (p.Gly636=) c.2781A>T (p.Gly927=) c.2820A>T (p.Gly940=) c.2736A>T (p.Gly912=) c.2766A>T (p.Gly922=) c.2844A>T (p.Gly948=) c.2835A>T (p.Gly945=) c.2796A>T (p.Gly932=) c.2805A>T (p.Gly935=) c.2829A>T (p.Gly943=) | |
2 | g.50497365T>C | CA426023340 | NRXN1 | c.2847A>G (p.Gly949=) n.823A>G n.1746A>G n.14A>G c.2001A>G (p.Gly667=) c.1992A>G (p.Gly664=) c.2967A>G (p.Gly989=) c.2811A>G (p.Gly937=) c.2037A>G (p.Gly679=) c.2823A>G (p.Gly941=) c.2868A>G (p.Gly956=) c.2865A>G (p.Gly955=) c.2856A>G (p.Gly952=) c.2850A>G (p.Gly950=) c.2841A>G (p.Gly947=) c.2838A>G (p.Gly946=) c.2808A>G (p.Gly936=) c.2778A>G (p.Gly926=) c.2073A>G (p.Gly691=) c.2028A>G (p.Gly676=) c.1908A>G (p.Gly636=) c.2781A>G (p.Gly927=) c.2820A>G (p.Gly940=) c.2736A>G (p.Gly912=) c.2766A>G (p.Gly922=) c.2844A>G (p.Gly948=) c.2835A>G (p.Gly945=) c.2796A>G (p.Gly932=) c.2805A>G (p.Gly935=) c.2829A>G (p.Gly943=) | |
2 | g.50497365T>G | CA426023341 | NRXN1 | c.2847A>C (p.Gly949=) n.823A>C n.1746A>C n.14A>C c.2001A>C (p.Gly667=) c.1992A>C (p.Gly664=) c.2967A>C (p.Gly989=) c.2811A>C (p.Gly937=) c.2037A>C (p.Gly679=) c.2823A>C (p.Gly941=) c.2868A>C (p.Gly956=) c.2865A>C (p.Gly955=) c.2856A>C (p.Gly952=) c.2850A>C (p.Gly950=) c.2841A>C (p.Gly947=) c.2838A>C (p.Gly946=) c.2808A>C (p.Gly936=) c.2778A>C (p.Gly926=) c.2073A>C (p.Gly691=) c.2028A>C (p.Gly676=) c.1908A>C (p.Gly636=) c.2781A>C (p.Gly927=) c.2820A>C (p.Gly940=) c.2736A>C (p.Gly912=) c.2766A>C (p.Gly922=) c.2844A>C (p.Gly948=) c.2835A>C (p.Gly945=) c.2796A>C (p.Gly932=) c.2805A>C (p.Gly935=) c.2829A>C (p.Gly943=) | |
2 | g.50497366C>A | CA346776749 | NRXN1 | c.2846G>T (p.Gly949Val) n.822G>T n.1745G>T n.13G>T c.2000G>T (p.Gly667Val) c.1991G>T (p.Gly664Val) c.2966G>T (p.Gly989Val) c.2810G>T (p.Gly937Val) c.2036G>T (p.Gly679Val) c.2822G>T (p.Gly941Val) c.2867G>T (p.Gly956Val) c.2864G>T (p.Gly955Val) c.2855G>T (p.Gly952Val) c.2849G>T (p.Gly950Val) c.2840G>T (p.Gly947Val) c.2837G>T (p.Gly946Val) c.2807G>T (p.Gly936Val) c.2777G>T (p.Gly926Val) c.2072G>T (p.Gly691Val) c.2027G>T (p.Gly676Val) c.1907G>T (p.Gly636Val) c.2780G>T (p.Gly927Val) c.2819G>T (p.Gly940Val) c.2735G>T (p.Gly912Val) c.2765G>T (p.Gly922Val) c.2843G>T (p.Gly948Val) c.2834G>T (p.Gly945Val) c.2795G>T (p.Gly932Val) c.2804G>T (p.Gly935Val) c.2828G>T (p.Gly943Val) | gnomAD v4 |
2 | g.50497366C>G | CA346776750 | NRXN1 | c.2846G>C (p.Gly949Ala) n.822G>C n.1745G>C n.13G>C c.2000G>C (p.Gly667Ala) c.1991G>C (p.Gly664Ala) c.2966G>C (p.Gly989Ala) c.2810G>C (p.Gly937Ala) c.2036G>C (p.Gly679Ala) c.2822G>C (p.Gly941Ala) c.2867G>C (p.Gly956Ala) c.2864G>C (p.Gly955Ala) c.2855G>C (p.Gly952Ala) c.2849G>C (p.Gly950Ala) c.2840G>C (p.Gly947Ala) c.2837G>C (p.Gly946Ala) c.2807G>C (p.Gly936Ala) c.2777G>C (p.Gly926Ala) c.2072G>C (p.Gly691Ala) c.2027G>C (p.Gly676Ala) c.1907G>C (p.Gly636Ala) c.2780G>C (p.Gly927Ala) c.2819G>C (p.Gly940Ala) c.2735G>C (p.Gly912Ala) c.2765G>C (p.Gly922Ala) c.2843G>C (p.Gly948Ala) c.2834G>C (p.Gly945Ala) c.2795G>C (p.Gly932Ala) c.2804G>C (p.Gly935Ala) c.2828G>C (p.Gly943Ala) | COSMIC COSMIC COSMIC COSMIC |
2 | g.50497366C>T | CA346776751 | NRXN1 | c.2846G>A (p.Gly949Glu) n.822G>A n.1745G>A n.13G>A c.2000G>A (p.Gly667Glu) c.1991G>A (p.Gly664Glu) c.2966G>A (p.Gly989Glu) c.2810G>A (p.Gly937Glu) c.2036G>A (p.Gly679Glu) c.2822G>A (p.Gly941Glu) c.2867G>A (p.Gly956Glu) c.2864G>A (p.Gly955Glu) c.2855G>A (p.Gly952Glu) c.2849G>A (p.Gly950Glu) c.2840G>A (p.Gly947Glu) c.2837G>A (p.Gly946Glu) c.2807G>A (p.Gly936Glu) c.2777G>A (p.Gly926Glu) c.2072G>A (p.Gly691Glu) c.2027G>A (p.Gly676Glu) c.1907G>A (p.Gly636Glu) c.2780G>A (p.Gly927Glu) c.2819G>A (p.Gly940Glu) c.2735G>A (p.Gly912Glu) c.2765G>A (p.Gly922Glu) c.2843G>A (p.Gly948Glu) c.2834G>A (p.Gly945Glu) c.2795G>A (p.Gly932Glu) c.2804G>A (p.Gly935Glu) c.2828G>A (p.Gly943Glu) | |
2 | g.50497367C>A | CA346776752 | NRXN1 | c.2845G>T (p.Gly949Ter) n.821G>T n.1744G>T n.12G>T c.1999G>T (p.Gly667Ter) c.1990G>T (p.Gly664Ter) c.2965G>T (p.Gly989Ter) c.2809G>T (p.Gly937Ter) c.2035G>T (p.Gly679Ter) c.2821G>T (p.Gly941Ter) c.2866G>T (p.Gly956Ter) c.2863G>T (p.Gly955Ter) c.2854G>T (p.Gly952Ter) c.2848G>T (p.Gly950Ter) c.2839G>T (p.Gly947Ter) c.2836G>T (p.Gly946Ter) c.2806G>T (p.Gly936Ter) c.2776G>T (p.Gly926Ter) c.2071G>T (p.Gly691Ter) c.2026G>T (p.Gly676Ter) c.1906G>T (p.Gly636Ter) c.2779G>T (p.Gly927Ter) c.2818G>T (p.Gly940Ter) c.2734G>T (p.Gly912Ter) c.2764G>T (p.Gly922Ter) c.2842G>T (p.Gly948Ter) c.2833G>T (p.Gly945Ter) c.2794G>T (p.Gly932Ter) c.2803G>T (p.Gly935Ter) c.2827G>T (p.Gly943Ter) | |
2 | g.50497367C= | CA1249594725 | NRXN1 | c.2845G= (p.Gly949=) n.821G= n.1744G= n.12G= c.1999G= (p.Gly667=) c.1990G= (p.Gly664=) c.2965G= (p.Gly989=) c.2809G= (p.Gly937=) c.2035G= (p.Gly679=) c.2821G= (p.Gly941=) c.2866G= (p.Gly956=) c.2863G= (p.Gly955=) c.2854G= (p.Gly952=) c.2848G= (p.Gly950=) c.2839G= (p.Gly947=) c.2836G= (p.Gly946=) c.2806G= (p.Gly936=) c.2776G= (p.Gly926=) c.2071G= (p.Gly691=) c.2026G= (p.Gly676=) c.1906G= (p.Gly636=) c.2779G= (p.Gly927=) c.2818G= (p.Gly940=) c.2734G= (p.Gly912=) c.2764G= (p.Gly922=) c.2842G= (p.Gly948=) c.2833G= (p.Gly945=) c.2794G= (p.Gly932=) c.2803G= (p.Gly935=) c.2827G= (p.Gly943=) | |
2 | g.50497367C>G | CA346776753 | NRXN1 | c.2845G>C (p.Gly949Arg) n.821G>C n.1744G>C n.12G>C c.1999G>C (p.Gly667Arg) c.1990G>C (p.Gly664Arg) c.2965G>C (p.Gly989Arg) c.2809G>C (p.Gly937Arg) c.2035G>C (p.Gly679Arg) c.2821G>C (p.Gly941Arg) c.2866G>C (p.Gly956Arg) c.2863G>C (p.Gly955Arg) c.2854G>C (p.Gly952Arg) c.2848G>C (p.Gly950Arg) c.2839G>C (p.Gly947Arg) c.2836G>C (p.Gly946Arg) c.2806G>C (p.Gly936Arg) c.2776G>C (p.Gly926Arg) c.2071G>C (p.Gly691Arg) c.2026G>C (p.Gly676Arg) c.1906G>C (p.Gly636Arg) c.2779G>C (p.Gly927Arg) c.2818G>C (p.Gly940Arg) c.2734G>C (p.Gly912Arg) c.2764G>C (p.Gly922Arg) c.2842G>C (p.Gly948Arg) c.2833G>C (p.Gly945Arg) c.2794G>C (p.Gly932Arg) c.2803G>C (p.Gly935Arg) c.2827G>C (p.Gly943Arg) | |
2 | g.50497367C>T | CA47360466 | NRXN1 | c.2845G>A (p.Gly949Arg) n.821G>A n.1744G>A n.12G>A c.1999G>A (p.Gly667Arg) c.1990G>A (p.Gly664Arg) c.2965G>A (p.Gly989Arg) c.2809G>A (p.Gly937Arg) c.2035G>A (p.Gly679Arg) c.2821G>A (p.Gly941Arg) c.2866G>A (p.Gly956Arg) c.2863G>A (p.Gly955Arg) c.2854G>A (p.Gly952Arg) c.2848G>A (p.Gly950Arg) c.2839G>A (p.Gly947Arg) c.2836G>A (p.Gly946Arg) c.2806G>A (p.Gly936Arg) c.2776G>A (p.Gly926Arg) c.2071G>A (p.Gly691Arg) c.2026G>A (p.Gly676Arg) c.1906G>A (p.Gly636Arg) c.2779G>A (p.Gly927Arg) c.2818G>A (p.Gly940Arg) c.2734G>A (p.Gly912Arg) c.2764G>A (p.Gly922Arg) c.2842G>A (p.Gly948Arg) c.2833G>A (p.Gly945Arg) c.2794G>A (p.Gly932Arg) c.2803G>A (p.Gly935Arg) c.2827G>A (p.Gly943Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.50497368A= | CA1249594726 | NRXN1 | c.2844T= (p.Asp948=) n.820T= n.1743T= n.11T= c.1998T= (p.Asp666=) c.1989T= (p.Asp663=) c.2964T= (p.Asp988=) c.2808T= (p.Asp936=) c.2034T= (p.Asp678=) c.2820T= (p.Asp940=) c.2865T= (p.Asp955=) c.2862T= (p.Asp954=) c.2853T= (p.Asp951=) c.2847T= (p.Asp949=) c.2838T= (p.Asp946=) c.2835T= (p.Asp945=) c.2805T= (p.Asp935=) c.2775T= (p.Asp925=) c.2070T= (p.Asp690=) c.2025T= (p.Asp675=) c.1905T= (p.Asp635=) c.2778T= (p.Asp926=) c.2817T= (p.Asp939=) c.2733T= (p.Asp911=) c.2763T= (p.Asp921=) c.2841T= (p.Asp947=) c.2832T= (p.Asp944=) c.2793T= (p.Asp931=) c.2802T= (p.Asp934=) c.2826T= (p.Asp942=) | |
2 | g.50497368A>C | CA346776754 | NRXN1 | c.2844T>G (p.Asp948Glu) n.820T>G n.1743T>G n.11T>G c.1998T>G (p.Asp666Glu) c.1989T>G (p.Asp663Glu) c.2964T>G (p.Asp988Glu) c.2808T>G (p.Asp936Glu) c.2034T>G (p.Asp678Glu) c.2820T>G (p.Asp940Glu) c.2865T>G (p.Asp955Glu) c.2862T>G (p.Asp954Glu) c.2853T>G (p.Asp951Glu) c.2847T>G (p.Asp949Glu) c.2838T>G (p.Asp946Glu) c.2835T>G (p.Asp945Glu) c.2805T>G (p.Asp935Glu) c.2775T>G (p.Asp925Glu) c.2070T>G (p.Asp690Glu) c.2025T>G (p.Asp675Glu) c.1905T>G (p.Asp635Glu) c.2778T>G (p.Asp926Glu) c.2817T>G (p.Asp939Glu) c.2733T>G (p.Asp911Glu) c.2763T>G (p.Asp921Glu) c.2841T>G (p.Asp947Glu) c.2832T>G (p.Asp944Glu) c.2793T>G (p.Asp931Glu) c.2802T>G (p.Asp934Glu) c.2826T>G (p.Asp942Glu) | |
2 | g.50497368A>G | CA426023343 | NRXN1 | c.2844T>C (p.Asp948=) n.820T>C n.1743T>C n.11T>C c.1998T>C (p.Asp666=) c.1989T>C (p.Asp663=) c.2964T>C (p.Asp988=) c.2808T>C (p.Asp936=) c.2034T>C (p.Asp678=) c.2820T>C (p.Asp940=) c.2865T>C (p.Asp955=) c.2862T>C (p.Asp954=) c.2853T>C (p.Asp951=) c.2847T>C (p.Asp949=) c.2838T>C (p.Asp946=) c.2835T>C (p.Asp945=) c.2805T>C (p.Asp935=) c.2775T>C (p.Asp925=) c.2070T>C (p.Asp690=) c.2025T>C (p.Asp675=) c.1905T>C (p.Asp635=) c.2778T>C (p.Asp926=) c.2817T>C (p.Asp939=) c.2733T>C (p.Asp911=) c.2763T>C (p.Asp921=) c.2841T>C (p.Asp947=) c.2832T>C (p.Asp944=) c.2793T>C (p.Asp931=) c.2802T>C (p.Asp934=) c.2826T>C (p.Asp942=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.50497368A>T | CA346776755 | NRXN1 | c.2844T>A (p.Asp948Glu) n.820T>A n.1743T>A n.11T>A c.1998T>A (p.Asp666Glu) c.1989T>A (p.Asp663Glu) c.2964T>A (p.Asp988Glu) c.2808T>A (p.Asp936Glu) c.2034T>A (p.Asp678Glu) c.2820T>A (p.Asp940Glu) c.2865T>A (p.Asp955Glu) c.2862T>A (p.Asp954Glu) c.2853T>A (p.Asp951Glu) c.2847T>A (p.Asp949Glu) c.2838T>A (p.Asp946Glu) c.2835T>A (p.Asp945Glu) c.2805T>A (p.Asp935Glu) c.2775T>A (p.Asp925Glu) c.2070T>A (p.Asp690Glu) c.2025T>A (p.Asp675Glu) c.1905T>A (p.Asp635Glu) c.2778T>A (p.Asp926Glu) c.2817T>A (p.Asp939Glu) c.2733T>A (p.Asp911Glu) c.2763T>A (p.Asp921Glu) c.2841T>A (p.Asp947Glu) c.2832T>A (p.Asp944Glu) c.2793T>A (p.Asp931Glu) c.2802T>A (p.Asp934Glu) c.2826T>A (p.Asp942Glu) | ClinVar dbSNP |
2 | g.50497369T>A | CA346776756 | NRXN1 | c.2843A>T (p.Asp948Val) n.819A>T n.1742A>T n.10A>T c.1997A>T (p.Asp666Val) c.1988A>T (p.Asp663Val) c.2963A>T (p.Asp988Val) c.2807A>T (p.Asp936Val) c.2033A>T (p.Asp678Val) c.2819A>T (p.Asp940Val) c.2864A>T (p.Asp955Val) c.2861A>T (p.Asp954Val) c.2852A>T (p.Asp951Val) c.2846A>T (p.Asp949Val) c.2837A>T (p.Asp946Val) c.2834A>T (p.Asp945Val) c.2804A>T (p.Asp935Val) c.2774A>T (p.Asp925Val) c.2069A>T (p.Asp690Val) c.2024A>T (p.Asp675Val) c.1904A>T (p.Asp635Val) c.2777A>T (p.Asp926Val) c.2816A>T (p.Asp939Val) c.2732A>T (p.Asp911Val) c.2762A>T (p.Asp921Val) c.2840A>T (p.Asp947Val) c.2831A>T (p.Asp944Val) c.2792A>T (p.Asp931Val) c.2801A>T (p.Asp934Val) c.2825A>T (p.Asp942Val) | gnomAD v4 |
2 | g.50497369T>C | CA16042400 | NRXN1 | c.2843A>G (p.Asp948Gly) n.819A>G n.1742A>G n.10A>G c.1997A>G (p.Asp666Gly) c.1988A>G (p.Asp663Gly) c.2963A>G (p.Asp988Gly) c.2807A>G (p.Asp936Gly) c.2033A>G (p.Asp678Gly) c.2819A>G (p.Asp940Gly) c.2864A>G (p.Asp955Gly) c.2861A>G (p.Asp954Gly) c.2852A>G (p.Asp951Gly) c.2846A>G (p.Asp949Gly) c.2837A>G (p.Asp946Gly) c.2834A>G (p.Asp945Gly) c.2804A>G (p.Asp935Gly) c.2774A>G (p.Asp925Gly) c.2069A>G (p.Asp690Gly) c.2024A>G (p.Asp675Gly) c.1904A>G (p.Asp635Gly) c.2777A>G (p.Asp926Gly) c.2816A>G (p.Asp939Gly) c.2732A>G (p.Asp911Gly) c.2762A>G (p.Asp921Gly) c.2840A>G (p.Asp947Gly) c.2831A>G (p.Asp944Gly) c.2792A>G (p.Asp931Gly) c.2801A>G (p.Asp934Gly) c.2825A>G (p.Asp942Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.50497369T>G | CA346776757 | NRXN1 | c.2843A>C (p.Asp948Ala) n.819A>C n.1742A>C n.10A>C c.1997A>C (p.Asp666Ala) c.1988A>C (p.Asp663Ala) c.2963A>C (p.Asp988Ala) c.2807A>C (p.Asp936Ala) c.2033A>C (p.Asp678Ala) c.2819A>C (p.Asp940Ala) c.2864A>C (p.Asp955Ala) c.2861A>C (p.Asp954Ala) c.2852A>C (p.Asp951Ala) c.2846A>C (p.Asp949Ala) c.2837A>C (p.Asp946Ala) c.2834A>C (p.Asp945Ala) c.2804A>C (p.Asp935Ala) c.2774A>C (p.Asp925Ala) c.2069A>C (p.Asp690Ala) c.2024A>C (p.Asp675Ala) c.1904A>C (p.Asp635Ala) c.2777A>C (p.Asp926Ala) c.2816A>C (p.Asp939Ala) c.2732A>C (p.Asp911Ala) c.2762A>C (p.Asp921Ala) c.2840A>C (p.Asp947Ala) c.2831A>C (p.Asp944Ala) c.2792A>C (p.Asp931Ala) c.2801A>C (p.Asp934Ala) c.2825A>C (p.Asp942Ala) | |
2 | g.50497369T= | CA1249594727 | NRXN1 | c.2843A= (p.Asp948=) n.819A= n.1742A= n.10A= c.1997A= (p.Asp666=) c.1988A= (p.Asp663=) c.2963A= (p.Asp988=) c.2807A= (p.Asp936=) c.2033A= (p.Asp678=) c.2819A= (p.Asp940=) c.2864A= (p.Asp955=) c.2861A= (p.Asp954=) c.2852A= (p.Asp951=) c.2846A= (p.Asp949=) c.2837A= (p.Asp946=) c.2834A= (p.Asp945=) c.2804A= (p.Asp935=) c.2774A= (p.Asp925=) c.2069A= (p.Asp690=) c.2024A= (p.Asp675=) c.1904A= (p.Asp635=) c.2777A= (p.Asp926=) c.2816A= (p.Asp939=) c.2732A= (p.Asp911=) c.2762A= (p.Asp921=) c.2840A= (p.Asp947=) c.2831A= (p.Asp944=) c.2792A= (p.Asp931=) c.2801A= (p.Asp934=) c.2825A= (p.Asp942=) | |
2 | g.50497370C>A | CA346776758 | NRXN1 | c.2842G>T (p.Asp948Tyr) n.818G>T n.1741G>T n.9G>T c.1996G>T (p.Asp666Tyr) c.1987G>T (p.Asp663Tyr) c.2962G>T (p.Asp988Tyr) c.2806G>T (p.Asp936Tyr) c.2032G>T (p.Asp678Tyr) c.2818G>T (p.Asp940Tyr) c.2863G>T (p.Asp955Tyr) c.2860G>T (p.Asp954Tyr) c.2851G>T (p.Asp951Tyr) c.2845G>T (p.Asp949Tyr) c.2836G>T (p.Asp946Tyr) c.2833G>T (p.Asp945Tyr) c.2803G>T (p.Asp935Tyr) c.2773G>T (p.Asp925Tyr) c.2068G>T (p.Asp690Tyr) c.2023G>T (p.Asp675Tyr) c.1903G>T (p.Asp635Tyr) c.2776G>T (p.Asp926Tyr) c.2815G>T (p.Asp939Tyr) c.2731G>T (p.Asp911Tyr) c.2761G>T (p.Asp921Tyr) c.2839G>T (p.Asp947Tyr) c.2830G>T (p.Asp944Tyr) c.2791G>T (p.Asp931Tyr) c.2800G>T (p.Asp934Tyr) c.2824G>T (p.Asp942Tyr) | |
2 | g.50497370C>G | CA346776759 | NRXN1 | c.2842G>C (p.Asp948His) n.818G>C n.1741G>C n.9G>C c.1996G>C (p.Asp666His) c.1987G>C (p.Asp663His) c.2962G>C (p.Asp988His) c.2806G>C (p.Asp936His) c.2032G>C (p.Asp678His) c.2818G>C (p.Asp940His) c.2863G>C (p.Asp955His) c.2860G>C (p.Asp954His) c.2851G>C (p.Asp951His) c.2845G>C (p.Asp949His) c.2836G>C (p.Asp946His) c.2833G>C (p.Asp945His) c.2803G>C (p.Asp935His) c.2773G>C (p.Asp925His) c.2068G>C (p.Asp690His) c.2023G>C (p.Asp675His) c.1903G>C (p.Asp635His) c.2776G>C (p.Asp926His) c.2815G>C (p.Asp939His) c.2731G>C (p.Asp911His) c.2761G>C (p.Asp921His) c.2839G>C (p.Asp947His) c.2830G>C (p.Asp944His) c.2791G>C (p.Asp931His) c.2800G>C (p.Asp934His) c.2824G>C (p.Asp942His) | |
2 | g.50497370C>T | CA346776760 | NRXN1 | c.2842G>A (p.Asp948Asn) n.818G>A n.1741G>A n.9G>A c.1996G>A (p.Asp666Asn) c.1987G>A (p.Asp663Asn) c.2962G>A (p.Asp988Asn) c.2806G>A (p.Asp936Asn) c.2032G>A (p.Asp678Asn) c.2818G>A (p.Asp940Asn) c.2863G>A (p.Asp955Asn) c.2860G>A (p.Asp954Asn) c.2851G>A (p.Asp951Asn) c.2845G>A (p.Asp949Asn) c.2836G>A (p.Asp946Asn) c.2833G>A (p.Asp945Asn) c.2803G>A (p.Asp935Asn) c.2773G>A (p.Asp925Asn) c.2068G>A (p.Asp690Asn) c.2023G>A (p.Asp675Asn) c.1903G>A (p.Asp635Asn) c.2776G>A (p.Asp926Asn) c.2815G>A (p.Asp939Asn) c.2731G>A (p.Asp911Asn) c.2761G>A (p.Asp921Asn) c.2839G>A (p.Asp947Asn) c.2830G>A (p.Asp944Asn) c.2791G>A (p.Asp931Asn) c.2800G>A (p.Asp934Asn) c.2824G>A (p.Asp942Asn) | COSMIC COSMIC COSMIC COSMIC |
2 | g.50497371C>A | CA47360497 | NRXN1 | c.2841G>T (p.Gly947=) n.817G>T n.1740G>T n.8G>T c.1995G>T (p.Gly665=) c.1986G>T (p.Gly662=) c.2961G>T (p.Gly987=) c.2805G>T (p.Gly935=) c.2031G>T (p.Gly677=) c.2817G>T (p.Gly939=) c.2862G>T (p.Gly954=) c.2859G>T (p.Gly953=) c.2850G>T (p.Gly950=) c.2844G>T (p.Gly948=) c.2835G>T (p.Gly945=) c.2832G>T (p.Gly944=) c.2802G>T (p.Gly934=) c.2772G>T (p.Gly924=) c.2067G>T (p.Gly689=) c.2022G>T (p.Gly674=) c.1902G>T (p.Gly634=) c.2775G>T (p.Gly925=) c.2814G>T (p.Gly938=) c.2730G>T (p.Gly910=) c.2760G>T (p.Gly920=) c.2838G>T (p.Gly946=) c.2829G>T (p.Gly943=) c.2790G>T (p.Gly930=) c.2799G>T (p.Gly933=) c.2823G>T (p.Gly941=) | dbSNP COSMIC COSMIC COSMIC COSMIC |
2 | g.50497371C= | CA1249594728 | NRXN1 | c.2841G= (p.Gly947=) n.817G= n.1740G= n.8G= c.1995G= (p.Gly665=) c.1986G= (p.Gly662=) c.2961G= (p.Gly987=) c.2805G= (p.Gly935=) c.2031G= (p.Gly677=) c.2817G= (p.Gly939=) c.2862G= (p.Gly954=) c.2859G= (p.Gly953=) c.2850G= (p.Gly950=) c.2844G= (p.Gly948=) c.2835G= (p.Gly945=) c.2832G= (p.Gly944=) c.2802G= (p.Gly934=) c.2772G= (p.Gly924=) c.2067G= (p.Gly689=) c.2022G= (p.Gly674=) c.1902G= (p.Gly634=) c.2775G= (p.Gly925=) c.2814G= (p.Gly938=) c.2730G= (p.Gly910=) c.2760G= (p.Gly920=) c.2838G= (p.Gly946=) c.2829G= (p.Gly943=) c.2790G= (p.Gly930=) c.2799G= (p.Gly933=) c.2823G= (p.Gly941=) | |
2 | g.50497371C>G | CA426023344 | NRXN1 | c.2841G>C (p.Gly947=) n.817G>C n.1740G>C n.8G>C c.1995G>C (p.Gly665=) c.1986G>C (p.Gly662=) c.2961G>C (p.Gly987=) c.2805G>C (p.Gly935=) c.2031G>C (p.Gly677=) c.2817G>C (p.Gly939=) c.2862G>C (p.Gly954=) c.2859G>C (p.Gly953=) c.2850G>C (p.Gly950=) c.2844G>C (p.Gly948=) c.2835G>C (p.Gly945=) c.2832G>C (p.Gly944=) c.2802G>C (p.Gly934=) c.2772G>C (p.Gly924=) c.2067G>C (p.Gly689=) c.2022G>C (p.Gly674=) c.1902G>C (p.Gly634=) c.2775G>C (p.Gly925=) c.2814G>C (p.Gly938=) c.2730G>C (p.Gly910=) c.2760G>C (p.Gly920=) c.2838G>C (p.Gly946=) c.2829G>C (p.Gly943=) c.2790G>C (p.Gly930=) c.2799G>C (p.Gly933=) c.2823G>C (p.Gly941=) | |
2 | g.50497371C>T | CA1654725 | NRXN1 | c.2841G>A (p.Gly947=) n.817G>A n.1740G>A n.8G>A c.1995G>A (p.Gly665=) c.1986G>A (p.Gly662=) c.2961G>A (p.Gly987=) c.2805G>A (p.Gly935=) c.2031G>A (p.Gly677=) c.2817G>A (p.Gly939=) c.2862G>A (p.Gly954=) c.2859G>A (p.Gly953=) c.2850G>A (p.Gly950=) c.2844G>A (p.Gly948=) c.2835G>A (p.Gly945=) c.2832G>A (p.Gly944=) c.2802G>A (p.Gly934=) c.2772G>A (p.Gly924=) c.2067G>A (p.Gly689=) c.2022G>A (p.Gly674=) c.1902G>A (p.Gly634=) c.2775G>A (p.Gly925=) c.2814G>A (p.Gly938=) c.2730G>A (p.Gly910=) c.2760G>A (p.Gly920=) c.2838G>A (p.Gly946=) c.2829G>A (p.Gly943=) c.2790G>A (p.Gly930=) c.2799G>A (p.Gly933=) c.2823G>A (p.Gly941=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.50497372C>A | CA346776763 | NRXN1 | c.2840G>T (p.Gly947Val) n.816G>T n.1739G>T n.7G>T c.1994G>T (p.Gly665Val) c.1985G>T (p.Gly662Val) c.2960G>T (p.Gly987Val) c.2804G>T (p.Gly935Val) c.2030G>T (p.Gly677Val) c.2816G>T (p.Gly939Val) c.2861G>T (p.Gly954Val) c.2858G>T (p.Gly953Val) c.2849G>T (p.Gly950Val) c.2843G>T (p.Gly948Val) c.2834G>T (p.Gly945Val) c.2831G>T (p.Gly944Val) c.2801G>T (p.Gly934Val) c.2771G>T (p.Gly924Val) c.2066G>T (p.Gly689Val) c.2021G>T (p.Gly674Val) c.1901G>T (p.Gly634Val) c.2774G>T (p.Gly925Val) c.2813G>T (p.Gly938Val) c.2729G>T (p.Gly910Val) c.2759G>T (p.Gly920Val) c.2837G>T (p.Gly946Val) c.2828G>T (p.Gly943Val) c.2789G>T (p.Gly930Val) c.2798G>T (p.Gly933Val) c.2822G>T (p.Gly941Val) | |
2 | g.50497372C>G | CA346776762 | NRXN1 | c.2840G>C (p.Gly947Ala) n.816G>C n.1739G>C n.7G>C c.1994G>C (p.Gly665Ala) c.1985G>C (p.Gly662Ala) c.2960G>C (p.Gly987Ala) c.2804G>C (p.Gly935Ala) c.2030G>C (p.Gly677Ala) c.2816G>C (p.Gly939Ala) c.2861G>C (p.Gly954Ala) c.2858G>C (p.Gly953Ala) c.2849G>C (p.Gly950Ala) c.2843G>C (p.Gly948Ala) c.2834G>C (p.Gly945Ala) c.2831G>C (p.Gly944Ala) c.2801G>C (p.Gly934Ala) c.2771G>C (p.Gly924Ala) c.2066G>C (p.Gly689Ala) c.2021G>C (p.Gly674Ala) c.1901G>C (p.Gly634Ala) c.2774G>C (p.Gly925Ala) c.2813G>C (p.Gly938Ala) c.2729G>C (p.Gly910Ala) c.2759G>C (p.Gly920Ala) c.2837G>C (p.Gly946Ala) c.2828G>C (p.Gly943Ala) c.2789G>C (p.Gly930Ala) c.2798G>C (p.Gly933Ala) c.2822G>C (p.Gly941Ala) | |
2 | g.50497372C>T | CA346776761 | NRXN1 | c.2840G>A (p.Gly947Glu) n.816G>A n.1739G>A n.7G>A c.1994G>A (p.Gly665Glu) c.1985G>A (p.Gly662Glu) c.2960G>A (p.Gly987Glu) c.2804G>A (p.Gly935Glu) c.2030G>A (p.Gly677Glu) c.2816G>A (p.Gly939Glu) c.2861G>A (p.Gly954Glu) c.2858G>A (p.Gly953Glu) c.2849G>A (p.Gly950Glu) c.2843G>A (p.Gly948Glu) c.2834G>A (p.Gly945Glu) c.2831G>A (p.Gly944Glu) c.2801G>A (p.Gly934Glu) c.2771G>A (p.Gly924Glu) c.2066G>A (p.Gly689Glu) c.2021G>A (p.Gly674Glu) c.1901G>A (p.Gly634Glu) c.2774G>A (p.Gly925Glu) c.2813G>A (p.Gly938Glu) c.2729G>A (p.Gly910Glu) c.2759G>A (p.Gly920Glu) c.2837G>A (p.Gly946Glu) c.2828G>A (p.Gly943Glu) c.2789G>A (p.Gly930Glu) c.2798G>A (p.Gly933Glu) c.2822G>A (p.Gly941Glu) | |
2 | g.50497373C>A | CA346776764 | NRXN1 | c.2839G>T (p.Gly947Trp) n.815G>T n.1738G>T n.6G>T c.1993G>T (p.Gly665Trp) c.1984G>T (p.Gly662Trp) c.2959G>T (p.Gly987Trp) c.2803G>T (p.Gly935Trp) c.2029G>T (p.Gly677Trp) c.2815G>T (p.Gly939Trp) c.2860G>T (p.Gly954Trp) c.2857G>T (p.Gly953Trp) c.2848G>T (p.Gly950Trp) c.2842G>T (p.Gly948Trp) c.2833G>T (p.Gly945Trp) c.2830G>T (p.Gly944Trp) c.2800G>T (p.Gly934Trp) c.2770G>T (p.Gly924Trp) c.2065G>T (p.Gly689Trp) c.2020G>T (p.Gly674Trp) c.1900G>T (p.Gly634Trp) c.2773G>T (p.Gly925Trp) c.2812G>T (p.Gly938Trp) c.2728G>T (p.Gly910Trp) c.2758G>T (p.Gly920Trp) c.2836G>T (p.Gly946Trp) c.2827G>T (p.Gly943Trp) c.2788G>T (p.Gly930Trp) c.2797G>T (p.Gly933Trp) c.2821G>T (p.Gly941Trp) | |
2 | g.50497373C>G | CA346776766 | NRXN1 | c.2839G>C (p.Gly947Arg) n.815G>C n.1738G>C n.6G>C c.1993G>C (p.Gly665Arg) c.1984G>C (p.Gly662Arg) c.2959G>C (p.Gly987Arg) c.2803G>C (p.Gly935Arg) c.2029G>C (p.Gly677Arg) c.2815G>C (p.Gly939Arg) c.2860G>C (p.Gly954Arg) c.2857G>C (p.Gly953Arg) c.2848G>C (p.Gly950Arg) c.2842G>C (p.Gly948Arg) c.2833G>C (p.Gly945Arg) c.2830G>C (p.Gly944Arg) c.2800G>C (p.Gly934Arg) c.2770G>C (p.Gly924Arg) c.2065G>C (p.Gly689Arg) c.2020G>C (p.Gly674Arg) c.1900G>C (p.Gly634Arg) c.2773G>C (p.Gly925Arg) c.2812G>C (p.Gly938Arg) c.2728G>C (p.Gly910Arg) c.2758G>C (p.Gly920Arg) c.2836G>C (p.Gly946Arg) c.2827G>C (p.Gly943Arg) c.2788G>C (p.Gly930Arg) c.2797G>C (p.Gly933Arg) c.2821G>C (p.Gly941Arg) | |
2 | g.50497373C>T | CA346776765 | NRXN1 | c.2839G>A (p.Gly947Arg) n.815G>A n.1738G>A n.6G>A c.1993G>A (p.Gly665Arg) c.1984G>A (p.Gly662Arg) c.2959G>A (p.Gly987Arg) c.2803G>A (p.Gly935Arg) c.2029G>A (p.Gly677Arg) c.2815G>A (p.Gly939Arg) c.2860G>A (p.Gly954Arg) c.2857G>A (p.Gly953Arg) c.2848G>A (p.Gly950Arg) c.2842G>A (p.Gly948Arg) c.2833G>A (p.Gly945Arg) c.2830G>A (p.Gly944Arg) c.2800G>A (p.Gly934Arg) c.2770G>A (p.Gly924Arg) c.2065G>A (p.Gly689Arg) c.2020G>A (p.Gly674Arg) c.1900G>A (p.Gly634Arg) c.2773G>A (p.Gly925Arg) c.2812G>A (p.Gly938Arg) c.2728G>A (p.Gly910Arg) c.2758G>A (p.Gly920Arg) c.2836G>A (p.Gly946Arg) c.2827G>A (p.Gly943Arg) c.2788G>A (p.Gly930Arg) c.2797G>A (p.Gly933Arg) c.2821G>A (p.Gly941Arg) | |
2 | g.50497374A>C | CA346776767 | NRXN1 | c.2838T>G (p.Ser946Arg) n.814T>G n.1737T>G n.5T>G c.1992T>G (p.Ser664Arg) c.1983T>G (p.Ser661Arg) c.2958T>G (p.Ser986Arg) c.2802T>G (p.Ser934Arg) c.2028T>G (p.Ser676Arg) c.2814T>G (p.Ser938Arg) c.2859T>G (p.Ser953Arg) c.2856T>G (p.Ser952Arg) c.2847T>G (p.Ser949Arg) c.2841T>G (p.Ser947Arg) c.2832T>G (p.Ser944Arg) c.2829T>G (p.Ser943Arg) c.2799T>G (p.Ser933Arg) c.2769T>G (p.Ser923Arg) c.2064T>G (p.Ser688Arg) c.2019T>G (p.Ser673Arg) c.1899T>G (p.Ser633Arg) c.2772T>G (p.Ser924Arg) c.2811T>G (p.Ser937Arg) c.2727T>G (p.Ser909Arg) c.2757T>G (p.Ser919Arg) c.2835T>G (p.Ser945Arg) c.2826T>G (p.Ser942Arg) c.2787T>G (p.Ser929Arg) c.2796T>G (p.Ser932Arg) c.2820T>G (p.Ser940Arg) | |
2 | g.50497374A>G | CA426023345 | NRXN1 | c.2838T>C (p.Ser946=) n.814T>C n.1737T>C n.5T>C c.1992T>C (p.Ser664=) c.1983T>C (p.Ser661=) c.2958T>C (p.Ser986=) c.2802T>C (p.Ser934=) c.2028T>C (p.Ser676=) c.2814T>C (p.Ser938=) c.2859T>C (p.Ser953=) c.2856T>C (p.Ser952=) c.2847T>C (p.Ser949=) c.2841T>C (p.Ser947=) c.2832T>C (p.Ser944=) c.2829T>C (p.Ser943=) c.2799T>C (p.Ser933=) c.2769T>C (p.Ser923=) c.2064T>C (p.Ser688=) c.2019T>C (p.Ser673=) c.1899T>C (p.Ser633=) c.2772T>C (p.Ser924=) c.2811T>C (p.Ser937=) c.2727T>C (p.Ser909=) c.2757T>C (p.Ser919=) c.2835T>C (p.Ser945=) c.2826T>C (p.Ser942=) c.2787T>C (p.Ser929=) c.2796T>C (p.Ser932=) c.2820T>C (p.Ser940=) | |
2 | g.50497374A>T | CA346776768 | NRXN1 | c.2838T>A (p.Ser946Arg) n.814T>A n.1737T>A n.5T>A c.1992T>A (p.Ser664Arg) c.1983T>A (p.Ser661Arg) c.2958T>A (p.Ser986Arg) c.2802T>A (p.Ser934Arg) c.2028T>A (p.Ser676Arg) c.2814T>A (p.Ser938Arg) c.2859T>A (p.Ser953Arg) c.2856T>A (p.Ser952Arg) c.2847T>A (p.Ser949Arg) c.2841T>A (p.Ser947Arg) c.2832T>A (p.Ser944Arg) c.2829T>A (p.Ser943Arg) c.2799T>A (p.Ser933Arg) c.2769T>A (p.Ser923Arg) c.2064T>A (p.Ser688Arg) c.2019T>A (p.Ser673Arg) c.1899T>A (p.Ser633Arg) c.2772T>A (p.Ser924Arg) c.2811T>A (p.Ser937Arg) c.2727T>A (p.Ser909Arg) c.2757T>A (p.Ser919Arg) c.2835T>A (p.Ser945Arg) c.2826T>A (p.Ser942Arg) c.2787T>A (p.Ser929Arg) c.2796T>A (p.Ser932Arg) c.2820T>A (p.Ser940Arg) | gnomAD v4 |
2 | g.50497375C>A | CA1654726 | NRXN1 | c.2837G>T (p.Ser946Ile) n.813G>T n.1736G>T n.4G>T c.1991G>T (p.Ser664Ile) c.1982G>T (p.Ser661Ile) c.2957G>T (p.Ser986Ile) c.2801G>T (p.Ser934Ile) c.2027G>T (p.Ser676Ile) c.2813G>T (p.Ser938Ile) c.2858G>T (p.Ser953Ile) c.2855G>T (p.Ser952Ile) c.2846G>T (p.Ser949Ile) c.2840G>T (p.Ser947Ile) c.2831G>T (p.Ser944Ile) c.2828G>T (p.Ser943Ile) c.2798G>T (p.Ser933Ile) c.2768G>T (p.Ser923Ile) c.2063G>T (p.Ser688Ile) c.2018G>T (p.Ser673Ile) c.1898G>T (p.Ser633Ile) c.2771G>T (p.Ser924Ile) c.2810G>T (p.Ser937Ile) c.2726G>T (p.Ser909Ile) c.2756G>T (p.Ser919Ile) c.2834G>T (p.Ser945Ile) c.2825G>T (p.Ser942Ile) c.2786G>T (p.Ser929Ile) c.2795G>T (p.Ser932Ile) c.2819G>T (p.Ser940Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.50497375C= | CA1249594729 | NRXN1 | c.2837G= (p.Ser946=) n.813G= n.1736G= n.4G= c.1991G= (p.Ser664=) c.1982G= (p.Ser661=) c.2957G= (p.Ser986=) c.2801G= (p.Ser934=) c.2027G= (p.Ser676=) c.2813G= (p.Ser938=) c.2858G= (p.Ser953=) c.2855G= (p.Ser952=) c.2846G= (p.Ser949=) c.2840G= (p.Ser947=) c.2831G= (p.Ser944=) c.2828G= (p.Ser943=) c.2798G= (p.Ser933=) c.2768G= (p.Ser923=) c.2063G= (p.Ser688=) c.2018G= (p.Ser673=) c.1898G= (p.Ser633=) c.2771G= (p.Ser924=) c.2810G= (p.Ser937=) c.2726G= (p.Ser909=) c.2756G= (p.Ser919=) c.2834G= (p.Ser945=) c.2825G= (p.Ser942=) c.2786G= (p.Ser929=) c.2795G= (p.Ser932=) c.2819G= (p.Ser940=) | |
2 | g.50497375C>G | CA346776769 | NRXN1 | c.2837G>C (p.Ser946Thr) n.813G>C n.1736G>C n.4G>C c.1991G>C (p.Ser664Thr) c.1982G>C (p.Ser661Thr) c.2957G>C (p.Ser986Thr) c.2801G>C (p.Ser934Thr) c.2027G>C (p.Ser676Thr) c.2813G>C (p.Ser938Thr) c.2858G>C (p.Ser953Thr) c.2855G>C (p.Ser952Thr) c.2846G>C (p.Ser949Thr) c.2840G>C (p.Ser947Thr) c.2831G>C (p.Ser944Thr) c.2828G>C (p.Ser943Thr) c.2798G>C (p.Ser933Thr) c.2768G>C (p.Ser923Thr) c.2063G>C (p.Ser688Thr) c.2018G>C (p.Ser673Thr) c.1898G>C (p.Ser633Thr) c.2771G>C (p.Ser924Thr) c.2810G>C (p.Ser937Thr) c.2726G>C (p.Ser909Thr) c.2756G>C (p.Ser919Thr) c.2834G>C (p.Ser945Thr) c.2825G>C (p.Ser942Thr) c.2786G>C (p.Ser929Thr) c.2795G>C (p.Ser932Thr) c.2819G>C (p.Ser940Thr) | |
2 | g.50497375C>T | CA346776770 | NRXN1 | c.2837G>A (p.Ser946Asn) n.813G>A n.1736G>A n.4G>A c.1991G>A (p.Ser664Asn) c.1982G>A (p.Ser661Asn) c.2957G>A (p.Ser986Asn) c.2801G>A (p.Ser934Asn) c.2027G>A (p.Ser676Asn) c.2813G>A (p.Ser938Asn) c.2858G>A (p.Ser953Asn) c.2855G>A (p.Ser952Asn) c.2846G>A (p.Ser949Asn) c.2840G>A (p.Ser947Asn) c.2831G>A (p.Ser944Asn) c.2828G>A (p.Ser943Asn) c.2798G>A (p.Ser933Asn) c.2768G>A (p.Ser923Asn) c.2063G>A (p.Ser688Asn) c.2018G>A (p.Ser673Asn) c.1898G>A (p.Ser633Asn) c.2771G>A (p.Ser924Asn) c.2810G>A (p.Ser937Asn) c.2726G>A (p.Ser909Asn) c.2756G>A (p.Ser919Asn) c.2834G>A (p.Ser945Asn) c.2825G>A (p.Ser942Asn) c.2786G>A (p.Ser929Asn) c.2795G>A (p.Ser932Asn) c.2819G>A (p.Ser940Asn) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.50497376T>A | CA346776771 | NRXN1 | c.2836A>T (p.Ser946Cys) n.812A>T n.1735A>T n.3A>T c.1990A>T (p.Ser664Cys) c.1981A>T (p.Ser661Cys) c.2956A>T (p.Ser986Cys) c.2800A>T (p.Ser934Cys) c.2026A>T (p.Ser676Cys) c.2812A>T (p.Ser938Cys) c.2857A>T (p.Ser953Cys) c.2854A>T (p.Ser952Cys) c.2845A>T (p.Ser949Cys) c.2839A>T (p.Ser947Cys) c.2830A>T (p.Ser944Cys) c.2827A>T (p.Ser943Cys) c.2797A>T (p.Ser933Cys) c.2767A>T (p.Ser923Cys) c.2062A>T (p.Ser688Cys) c.2017A>T (p.Ser673Cys) c.1897A>T (p.Ser633Cys) c.2770A>T (p.Ser924Cys) c.2809A>T (p.Ser937Cys) c.2725A>T (p.Ser909Cys) c.2755A>T (p.Ser919Cys) c.2833A>T (p.Ser945Cys) c.2824A>T (p.Ser942Cys) c.2785A>T (p.Ser929Cys) c.2794A>T (p.Ser932Cys) c.2818A>T (p.Ser940Cys) | |
2 | g.50497376T>C | CA346776772 | NRXN1 | c.2836A>G (p.Ser946Gly) n.812A>G n.1735A>G n.3A>G c.1990A>G (p.Ser664Gly) c.1981A>G (p.Ser661Gly) c.2956A>G (p.Ser986Gly) c.2800A>G (p.Ser934Gly) c.2026A>G (p.Ser676Gly) c.2812A>G (p.Ser938Gly) c.2857A>G (p.Ser953Gly) c.2854A>G (p.Ser952Gly) c.2845A>G (p.Ser949Gly) c.2839A>G (p.Ser947Gly) c.2830A>G (p.Ser944Gly) c.2827A>G (p.Ser943Gly) c.2797A>G (p.Ser933Gly) c.2767A>G (p.Ser923Gly) c.2062A>G (p.Ser688Gly) c.2017A>G (p.Ser673Gly) c.1897A>G (p.Ser633Gly) c.2770A>G (p.Ser924Gly) c.2809A>G (p.Ser937Gly) c.2725A>G (p.Ser909Gly) c.2755A>G (p.Ser919Gly) c.2833A>G (p.Ser945Gly) c.2824A>G (p.Ser942Gly) c.2785A>G (p.Ser929Gly) c.2794A>G (p.Ser932Gly) c.2818A>G (p.Ser940Gly) | |
2 | g.50497376T>G | CA346776773 | NRXN1 | c.2836A>C (p.Ser946Arg) n.812A>C n.1735A>C n.3A>C c.1990A>C (p.Ser664Arg) c.1981A>C (p.Ser661Arg) c.2956A>C (p.Ser986Arg) c.2800A>C (p.Ser934Arg) c.2026A>C (p.Ser676Arg) c.2812A>C (p.Ser938Arg) c.2857A>C (p.Ser953Arg) c.2854A>C (p.Ser952Arg) c.2845A>C (p.Ser949Arg) c.2839A>C (p.Ser947Arg) c.2830A>C (p.Ser944Arg) c.2827A>C (p.Ser943Arg) c.2797A>C (p.Ser933Arg) c.2767A>C (p.Ser923Arg) c.2062A>C (p.Ser688Arg) c.2017A>C (p.Ser673Arg) c.1897A>C (p.Ser633Arg) c.2770A>C (p.Ser924Arg) c.2809A>C (p.Ser937Arg) c.2725A>C (p.Ser909Arg) c.2755A>C (p.Ser919Arg) c.2833A>C (p.Ser945Arg) c.2824A>C (p.Ser942Arg) c.2785A>C (p.Ser929Arg) c.2794A>C (p.Ser932Arg) c.2818A>C (p.Ser940Arg) | |
2 | g.50497377G>A | CA426023346 | NRXN1 | c.2835C>T (p.Asn945=) n.811C>T n.1734C>T n.2C>T c.1989C>T (p.Asn663=) c.1980C>T (p.Asn660=) c.2955C>T (p.Asn985=) c.2799C>T (p.Asn933=) c.2025C>T (p.Asn675=) c.2811C>T (p.Asn937=) c.2856C>T (p.Asn952=) c.2853C>T (p.Asn951=) c.2844C>T (p.Asn948=) c.2838C>T (p.Asn946=) c.2829C>T (p.Asn943=) c.2826C>T (p.Asn942=) c.2796C>T (p.Asn932=) c.2766C>T (p.Asn922=) c.2061C>T (p.Asn687=) c.2016C>T (p.Asn672=) c.1896C>T (p.Asn632=) c.2769C>T (p.Asn923=) c.2808C>T (p.Asn936=) c.2724C>T (p.Asn908=) c.2754C>T (p.Asn918=) c.2832C>T (p.Asn944=) c.2823C>T (p.Asn941=) c.2784C>T (p.Asn928=) c.2793C>T (p.Asn931=) c.2817C>T (p.Asn939=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.50497377G>C | CA346776774 | NRXN1 | c.2835C>G (p.Asn945Lys) n.811C>G n.1734C>G n.2C>G c.1989C>G (p.Asn663Lys) c.1980C>G (p.Asn660Lys) c.2955C>G (p.Asn985Lys) c.2799C>G (p.Asn933Lys) c.2025C>G (p.Asn675Lys) c.2811C>G (p.Asn937Lys) c.2856C>G (p.Asn952Lys) c.2853C>G (p.Asn951Lys) c.2844C>G (p.Asn948Lys) c.2838C>G (p.Asn946Lys) c.2829C>G (p.Asn943Lys) c.2826C>G (p.Asn942Lys) c.2796C>G (p.Asn932Lys) c.2766C>G (p.Asn922Lys) c.2061C>G (p.Asn687Lys) c.2016C>G (p.Asn672Lys) c.1896C>G (p.Asn632Lys) c.2769C>G (p.Asn923Lys) c.2808C>G (p.Asn936Lys) c.2724C>G (p.Asn908Lys) c.2754C>G (p.Asn918Lys) c.2832C>G (p.Asn944Lys) c.2823C>G (p.Asn941Lys) c.2784C>G (p.Asn928Lys) c.2793C>G (p.Asn931Lys) c.2817C>G (p.Asn939Lys) | |
2 | g.50497377G= | CA1249594730 | NRXN1 | c.2835C= (p.Asn945=) n.811C= n.1734C= n.2C= c.1989C= (p.Asn663=) c.1980C= (p.Asn660=) c.2955C= (p.Asn985=) c.2799C= (p.Asn933=) c.2025C= (p.Asn675=) c.2811C= (p.Asn937=) c.2856C= (p.Asn952=) c.2853C= (p.Asn951=) c.2844C= (p.Asn948=) c.2838C= (p.Asn946=) c.2829C= (p.Asn943=) c.2826C= (p.Asn942=) c.2796C= (p.Asn932=) c.2766C= (p.Asn922=) c.2061C= (p.Asn687=) c.2016C= (p.Asn672=) c.1896C= (p.Asn632=) c.2769C= (p.Asn923=) c.2808C= (p.Asn936=) c.2724C= (p.Asn908=) c.2754C= (p.Asn918=) c.2832C= (p.Asn944=) c.2823C= (p.Asn941=) c.2784C= (p.Asn928=) c.2793C= (p.Asn931=) c.2817C= (p.Asn939=) | |
2 | g.50497377G>T | CA346776775 | NRXN1 | c.2835C>A (p.Asn945Lys) n.811C>A n.1734C>A n.2C>A c.1989C>A (p.Asn663Lys) c.1980C>A (p.Asn660Lys) c.2955C>A (p.Asn985Lys) c.2799C>A (p.Asn933Lys) c.2025C>A (p.Asn675Lys) c.2811C>A (p.Asn937Lys) c.2856C>A (p.Asn952Lys) c.2853C>A (p.Asn951Lys) c.2844C>A (p.Asn948Lys) c.2838C>A (p.Asn946Lys) c.2829C>A (p.Asn943Lys) c.2826C>A (p.Asn942Lys) c.2796C>A (p.Asn932Lys) c.2766C>A (p.Asn922Lys) c.2061C>A (p.Asn687Lys) c.2016C>A (p.Asn672Lys) c.1896C>A (p.Asn632Lys) c.2769C>A (p.Asn923Lys) c.2808C>A (p.Asn936Lys) c.2724C>A (p.Asn908Lys) c.2754C>A (p.Asn918Lys) c.2832C>A (p.Asn944Lys) c.2823C>A (p.Asn941Lys) c.2784C>A (p.Asn928Lys) c.2793C>A (p.Asn931Lys) c.2817C>A (p.Asn939Lys) | gnomAD v4 |
2 | g.50497378T>A | CA346776777 | NRXN1 | c.2834A>T (p.Asn945Ile) n.810A>T n.1733A>T n.1A>T c.1988A>T (p.Asn663Ile) c.1979A>T (p.Asn660Ile) c.2954A>T (p.Asn985Ile) c.2798A>T (p.Asn933Ile) c.2024A>T (p.Asn675Ile) c.2810A>T (p.Asn937Ile) c.2855A>T (p.Asn952Ile) c.2852A>T (p.Asn951Ile) c.2843A>T (p.Asn948Ile) c.2837A>T (p.Asn946Ile) c.2828A>T (p.Asn943Ile) c.2825A>T (p.Asn942Ile) c.2795A>T (p.Asn932Ile) c.2765A>T (p.Asn922Ile) c.2060A>T (p.Asn687Ile) c.2015A>T (p.Asn672Ile) c.1895A>T (p.Asn632Ile) c.2768A>T (p.Asn923Ile) c.2807A>T (p.Asn936Ile) c.2723A>T (p.Asn908Ile) c.2753A>T (p.Asn918Ile) c.2831A>T (p.Asn944Ile) c.2822A>T (p.Asn941Ile) c.2783A>T (p.Asn928Ile) c.2792A>T (p.Asn931Ile) c.2816A>T (p.Asn939Ile) | |
2 | g.50497378T>C | CA1654727 | NRXN1 | c.2834A>G (p.Asn945Ser) n.810A>G n.1733A>G n.1A>G c.1988A>G (p.Asn663Ser) c.1979A>G (p.Asn660Ser) c.2954A>G (p.Asn985Ser) c.2798A>G (p.Asn933Ser) c.2024A>G (p.Asn675Ser) c.2810A>G (p.Asn937Ser) c.2855A>G (p.Asn952Ser) c.2852A>G (p.Asn951Ser) c.2843A>G (p.Asn948Ser) c.2837A>G (p.Asn946Ser) c.2828A>G (p.Asn943Ser) c.2825A>G (p.Asn942Ser) c.2795A>G (p.Asn932Ser) c.2765A>G (p.Asn922Ser) c.2060A>G (p.Asn687Ser) c.2015A>G (p.Asn672Ser) c.1895A>G (p.Asn632Ser) c.2768A>G (p.Asn923Ser) c.2807A>G (p.Asn936Ser) c.2723A>G (p.Asn908Ser) c.2753A>G (p.Asn918Ser) c.2831A>G (p.Asn944Ser) c.2822A>G (p.Asn941Ser) c.2783A>G (p.Asn928Ser) c.2792A>G (p.Asn931Ser) c.2816A>G (p.Asn939Ser) | dbSNP ExAC gnomAD v2 |
2 | g.50497378T>G | CA346776776 | NRXN1 | c.2834A>C (p.Asn945Thr) n.810A>C n.1733A>C n.1A>C c.1988A>C (p.Asn663Thr) c.1979A>C (p.Asn660Thr) c.2954A>C (p.Asn985Thr) c.2798A>C (p.Asn933Thr) c.2024A>C (p.Asn675Thr) c.2810A>C (p.Asn937Thr) c.2855A>C (p.Asn952Thr) c.2852A>C (p.Asn951Thr) c.2843A>C (p.Asn948Thr) c.2837A>C (p.Asn946Thr) c.2828A>C (p.Asn943Thr) c.2825A>C (p.Asn942Thr) c.2795A>C (p.Asn932Thr) c.2765A>C (p.Asn922Thr) c.2060A>C (p.Asn687Thr) c.2015A>C (p.Asn672Thr) c.1895A>C (p.Asn632Thr) c.2768A>C (p.Asn923Thr) c.2807A>C (p.Asn936Thr) c.2723A>C (p.Asn908Thr) c.2753A>C (p.Asn918Thr) c.2831A>C (p.Asn944Thr) c.2822A>C (p.Asn941Thr) c.2783A>C (p.Asn928Thr) c.2792A>C (p.Asn931Thr) c.2816A>C (p.Asn939Thr) | |
2 | g.50497378T= | CA1249594731 | NRXN1 | c.2834A= (p.Asn945=) n.810A= n.1733A= n.1A= c.1988A= (p.Asn663=) c.1979A= (p.Asn660=) c.2954A= (p.Asn985=) c.2798A= (p.Asn933=) c.2024A= (p.Asn675=) c.2810A= (p.Asn937=) c.2855A= (p.Asn952=) c.2852A= (p.Asn951=) c.2843A= (p.Asn948=) c.2837A= (p.Asn946=) c.2828A= (p.Asn943=) c.2825A= (p.Asn942=) c.2795A= (p.Asn932=) c.2765A= (p.Asn922=) c.2060A= (p.Asn687=) c.2015A= (p.Asn672=) c.1895A= (p.Asn632=) c.2768A= (p.Asn923=) c.2807A= (p.Asn936=) c.2723A= (p.Asn908=) c.2753A= (p.Asn918=) c.2831A= (p.Asn944=) c.2822A= (p.Asn941=) c.2783A= (p.Asn928=) c.2792A= (p.Asn931=) c.2816A= (p.Asn939=) | |
2 | g.50497379T>A | CA346776778 | NRXN1 | c.2833A>T (p.Asn945Tyr) n.809A>T n.1732A>T c.1987A>T (p.Asn663Tyr) c.1978A>T (p.Asn660Tyr) c.2953A>T (p.Asn985Tyr) c.2797A>T (p.Asn933Tyr) c.2023A>T (p.Asn675Tyr) c.2809A>T (p.Asn937Tyr) c.2854A>T (p.Asn952Tyr) c.2851A>T (p.Asn951Tyr) c.2842A>T (p.Asn948Tyr) c.2836A>T (p.Asn946Tyr) c.2827A>T (p.Asn943Tyr) c.2824A>T (p.Asn942Tyr) c.2794A>T (p.Asn932Tyr) c.2764A>T (p.Asn922Tyr) c.2059A>T (p.Asn687Tyr) c.2014A>T (p.Asn672Tyr) c.1894A>T (p.Asn632Tyr) c.2767A>T (p.Asn923Tyr) c.2806A>T (p.Asn936Tyr) c.2722A>T (p.Asn908Tyr) c.2752A>T (p.Asn918Tyr) c.2830A>T (p.Asn944Tyr) c.2821A>T (p.Asn941Tyr) c.2782A>T (p.Asn928Tyr) c.2791A>T (p.Asn931Tyr) c.2815A>T (p.Asn939Tyr) | |
2 | g.50497379T>C | CA1654728 | NRXN1 | c.2833A>G (p.Asn945Asp) n.809A>G n.1732A>G c.1987A>G (p.Asn663Asp) c.1978A>G (p.Asn660Asp) c.2953A>G (p.Asn985Asp) c.2797A>G (p.Asn933Asp) c.2023A>G (p.Asn675Asp) c.2809A>G (p.Asn937Asp) c.2854A>G (p.Asn952Asp) c.2851A>G (p.Asn951Asp) c.2842A>G (p.Asn948Asp) c.2836A>G (p.Asn946Asp) c.2827A>G (p.Asn943Asp) c.2824A>G (p.Asn942Asp) c.2794A>G (p.Asn932Asp) c.2764A>G (p.Asn922Asp) c.2059A>G (p.Asn687Asp) c.2014A>G (p.Asn672Asp) c.1894A>G (p.Asn632Asp) c.2767A>G (p.Asn923Asp) c.2806A>G (p.Asn936Asp) c.2722A>G (p.Asn908Asp) c.2752A>G (p.Asn918Asp) c.2830A>G (p.Asn944Asp) c.2821A>G (p.Asn941Asp) c.2782A>G (p.Asn928Asp) c.2791A>G (p.Asn931Asp) c.2815A>G (p.Asn939Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.50497379T>G | CA346776779 | NRXN1 | c.2833A>C (p.Asn945His) n.809A>C n.1732A>C c.1987A>C (p.Asn663His) c.1978A>C (p.Asn660His) c.2953A>C (p.Asn985His) c.2797A>C (p.Asn933His) c.2023A>C (p.Asn675His) c.2809A>C (p.Asn937His) c.2854A>C (p.Asn952His) c.2851A>C (p.Asn951His) c.2842A>C (p.Asn948His) c.2836A>C (p.Asn946His) c.2827A>C (p.Asn943His) c.2824A>C (p.Asn942His) c.2794A>C (p.Asn932His) c.2764A>C (p.Asn922His) c.2059A>C (p.Asn687His) c.2014A>C (p.Asn672His) c.1894A>C (p.Asn632His) c.2767A>C (p.Asn923His) c.2806A>C (p.Asn936His) c.2722A>C (p.Asn908His) c.2752A>C (p.Asn918His) c.2830A>C (p.Asn944His) c.2821A>C (p.Asn941His) c.2782A>C (p.Asn928His) c.2791A>C (p.Asn931His) c.2815A>C (p.Asn939His) | |
2 | g.50497379T= | CA1249594732 | NRXN1 | c.2833A= (p.Asn945=) n.809A= n.1732A= c.1987A= (p.Asn663=) c.1978A= (p.Asn660=) c.2953A= (p.Asn985=) c.2797A= (p.Asn933=) c.2023A= (p.Asn675=) c.2809A= (p.Asn937=) c.2854A= (p.Asn952=) c.2851A= (p.Asn951=) c.2842A= (p.Asn948=) c.2836A= (p.Asn946=) c.2827A= (p.Asn943=) c.2824A= (p.Asn942=) c.2794A= (p.Asn932=) c.2764A= (p.Asn922=) c.2059A= (p.Asn687=) c.2014A= (p.Asn672=) c.1894A= (p.Asn632=) c.2767A= (p.Asn923=) c.2806A= (p.Asn936=) c.2722A= (p.Asn908=) c.2752A= (p.Asn918=) c.2830A= (p.Asn944=) c.2821A= (p.Asn941=) c.2782A= (p.Asn928=) c.2791A= (p.Asn931=) c.2815A= (p.Asn939=) | |
2 | g.50497380A= | CA1249594733 | NRXN1 | c.2832T= (p.Tyr944=) n.808T= n.1731T= c.1986T= (p.Tyr662=) c.1977T= (p.Tyr659=) c.2952T= (p.Tyr984=) c.2796T= (p.Tyr932=) c.2022T= (p.Tyr674=) c.2808T= (p.Tyr936=) c.2853T= (p.Tyr951=) c.2850T= (p.Tyr950=) c.2841T= (p.Tyr947=) c.2835T= (p.Tyr945=) c.2826T= (p.Tyr942=) c.2823T= (p.Tyr941=) c.2793T= (p.Tyr931=) c.2763T= (p.Tyr921=) c.2058T= (p.Tyr686=) c.2013T= (p.Tyr671=) c.1893T= (p.Tyr631=) c.2766T= (p.Tyr922=) c.2805T= (p.Tyr935=) c.2721T= (p.Tyr907=) c.2751T= (p.Tyr917=) c.2829T= (p.Tyr943=) c.2820T= (p.Tyr940=) c.2781T= (p.Tyr927=) c.2790T= (p.Tyr930=) c.2814T= (p.Tyr938=) | |
2 | g.50497380A>C | CA16604353 | NRXN1 | c.2832T>G (p.Tyr944Ter) n.808T>G n.1731T>G c.1986T>G (p.Tyr662Ter) c.1977T>G (p.Tyr659Ter) c.2952T>G (p.Tyr984Ter) c.2796T>G (p.Tyr932Ter) c.2022T>G (p.Tyr674Ter) c.2808T>G (p.Tyr936Ter) c.2853T>G (p.Tyr951Ter) c.2850T>G (p.Tyr950Ter) c.2841T>G (p.Tyr947Ter) c.2835T>G (p.Tyr945Ter) c.2826T>G (p.Tyr942Ter) c.2823T>G (p.Tyr941Ter) c.2793T>G (p.Tyr931Ter) c.2763T>G (p.Tyr921Ter) c.2058T>G (p.Tyr686Ter) c.2013T>G (p.Tyr671Ter) c.1893T>G (p.Tyr631Ter) c.2766T>G (p.Tyr922Ter) c.2805T>G (p.Tyr935Ter) c.2721T>G (p.Tyr907Ter) c.2751T>G (p.Tyr917Ter) c.2829T>G (p.Tyr943Ter) c.2820T>G (p.Tyr940Ter) c.2781T>G (p.Tyr927Ter) c.2790T>G (p.Tyr930Ter) c.2814T>G (p.Tyr938Ter) | ClinVar dbSNP |
2 | g.50497380A>G | CA426023348 | NRXN1 | c.2832T>C (p.Tyr944=) n.808T>C n.1731T>C c.1986T>C (p.Tyr662=) c.1977T>C (p.Tyr659=) c.2952T>C (p.Tyr984=) c.2796T>C (p.Tyr932=) c.2022T>C (p.Tyr674=) c.2808T>C (p.Tyr936=) c.2853T>C (p.Tyr951=) c.2850T>C (p.Tyr950=) c.2841T>C (p.Tyr947=) c.2835T>C (p.Tyr945=) c.2826T>C (p.Tyr942=) c.2823T>C (p.Tyr941=) c.2793T>C (p.Tyr931=) c.2763T>C (p.Tyr921=) c.2058T>C (p.Tyr686=) c.2013T>C (p.Tyr671=) c.1893T>C (p.Tyr631=) c.2766T>C (p.Tyr922=) c.2805T>C (p.Tyr935=) c.2721T>C (p.Tyr907=) c.2751T>C (p.Tyr917=) c.2829T>C (p.Tyr943=) c.2820T>C (p.Tyr940=) c.2781T>C (p.Tyr927=) c.2790T>C (p.Tyr930=) c.2814T>C (p.Tyr938=) | gnomAD v4 |
2 | g.50497380A>T | CA346776780 | NRXN1 | c.2832T>A (p.Tyr944Ter) n.808T>A n.1731T>A c.1986T>A (p.Tyr662Ter) c.1977T>A (p.Tyr659Ter) c.2952T>A (p.Tyr984Ter) c.2796T>A (p.Tyr932Ter) c.2022T>A (p.Tyr674Ter) c.2808T>A (p.Tyr936Ter) c.2853T>A (p.Tyr951Ter) c.2850T>A (p.Tyr950Ter) c.2841T>A (p.Tyr947Ter) c.2835T>A (p.Tyr945Ter) c.2826T>A (p.Tyr942Ter) c.2823T>A (p.Tyr941Ter) c.2793T>A (p.Tyr931Ter) c.2763T>A (p.Tyr921Ter) c.2058T>A (p.Tyr686Ter) c.2013T>A (p.Tyr671Ter) c.1893T>A (p.Tyr631Ter) c.2766T>A (p.Tyr922Ter) c.2805T>A (p.Tyr935Ter) c.2721T>A (p.Tyr907Ter) c.2751T>A (p.Tyr917Ter) c.2829T>A (p.Tyr943Ter) c.2820T>A (p.Tyr940Ter) c.2781T>A (p.Tyr927Ter) c.2790T>A (p.Tyr930Ter) c.2814T>A (p.Tyr938Ter) |