| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.159341525G>A | CA2578224653 | RAPGEF2 | c.2052-39G>A (n.2052-39G>A) c.2535-39G>A (n.2535-39G>A) c.2517-39G>A (n.2517-39G>A) c.2181-39G>A (n.2181-39G>A) c.2187-39G>A (n.2187-39G>A) c.2199-39G>A (n.2199-39G>A) c.2169-39G>A (n.2169-39G>A) | |
| 4 | g.159341525G>T | CA2672534848 | RAPGEF2 | c.2052-39G>T (n.2052-39G>T) c.2535-39G>T (n.2535-39G>T) c.2517-39G>T (n.2517-39G>T) c.2181-39G>T (n.2181-39G>T) c.2187-39G>T (n.2187-39G>T) c.2199-39G>T (n.2199-39G>T) c.2169-39G>T (n.2169-39G>T) | gnomAD v4 |
| 4 | g.159341526C>T | CA2672534849 | RAPGEF2 | c.2052-38C>T (n.2052-38C>T) c.2535-38C>T (n.2535-38C>T) c.2517-38C>T (n.2517-38C>T) c.2181-38C>T (n.2181-38C>T) c.2187-38C>T (n.2187-38C>T) c.2199-38C>T (n.2199-38C>T) c.2169-38C>T (n.2169-38C>T) | gnomAD v4 |
| 4 | g.159341527T>C | CA556205732 | RAPGEF2 | c.2052-37T>C (n.2052-37T>C) c.2535-37T>C (n.2535-37T>C) c.2517-37T>C (n.2517-37T>C) c.2181-37T>C (n.2181-37T>C) c.2187-37T>C (n.2187-37T>C) c.2199-37T>C (n.2199-37T>C) c.2169-37T>C (n.2169-37T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.159341527T= | CA1507167675 | RAPGEF2 | c.2052-37T= (n.2052-37T=) c.2535-37T= (n.2535-37T=) c.2517-37T= (n.2517-37T=) c.2181-37T= (n.2181-37T=) c.2187-37T= (n.2187-37T=) c.2199-37T= (n.2199-37T=) c.2169-37T= (n.2169-37T=) | |
| 4 | g.159341531G>A | CA2578224654 | RAPGEF2 | c.2052-33G>A (n.2052-33G>A) c.2535-33G>A (n.2535-33G>A) c.2517-33G>A (n.2517-33G>A) c.2181-33G>A (n.2181-33G>A) c.2187-33G>A (n.2187-33G>A) c.2199-33G>A (n.2199-33G>A) c.2169-33G>A (n.2169-33G>A) | |
| 4 | g.159341531G= | CA1507167676 | RAPGEF2 | c.2052-33G= (n.2052-33G=) c.2535-33G= (n.2535-33G=) c.2517-33G= (n.2517-33G=) c.2181-33G= (n.2181-33G=) c.2187-33G= (n.2187-33G=) c.2199-33G= (n.2199-33G=) c.2169-33G= (n.2169-33G=) | |
| 4 | g.159341531G>T | CA1070051629 | RAPGEF2 | c.2052-33G>T (n.2052-33G>T) c.2535-33G>T (n.2535-33G>T) c.2517-33G>T (n.2517-33G>T) c.2181-33G>T (n.2181-33G>T) c.2187-33G>T (n.2187-33G>T) c.2199-33G>T (n.2199-33G>T) c.2169-33G>T (n.2169-33G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.159341532C= | CA1507167677 | RAPGEF2 | c.2052-32C= (n.2052-32C=) c.2535-32C= (n.2535-32C=) c.2517-32C= (n.2517-32C=) c.2181-32C= (n.2181-32C=) c.2187-32C= (n.2187-32C=) c.2199-32C= (n.2199-32C=) c.2169-32C= (n.2169-32C=) | |
| 4 | g.159341532C>G | CA3124779 | RAPGEF2 | c.2052-32C>G (n.2052-32C>G) c.2535-32C>G (n.2535-32C>G) c.2517-32C>G (n.2517-32C>G) c.2181-32C>G (n.2181-32C>G) c.2187-32C>G (n.2187-32C>G) c.2199-32C>G (n.2199-32C>G) c.2169-32C>G (n.2169-32C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.159341536G>T | CA2672534850 | RAPGEF2 | c.2052-28G>T (n.2052-28G>T) c.2535-28G>T (n.2535-28G>T) c.2517-28G>T (n.2517-28G>T) c.2181-28G>T (n.2181-28G>T) c.2187-28G>T (n.2187-28G>T) c.2199-28G>T (n.2199-28G>T) c.2169-28G>T (n.2169-28G>T) | gnomAD v4 |
| 4 | g.159341539_159341562dup | CA1070051631 | RAPGEF2 | c.2052-25_2052-2dup (n.2052-25_2052-2dup) c.2535-25_2535-2dup (n.2535-25_2535-2dup) c.2517-25_2517-2dup (n.2517-25_2517-2dup) c.2181-25_2181-2dup (n.2181-25_2181-2dup) c.2187-25_2187-2dup (n.2187-25_2187-2dup) c.2199-25_2199-2dup (n.2199-25_2199-2dup) c.2169-25_2169-2dup (n.2169-25_2169-2dup) | gnomAD v3 gnomAD v4 |
| 4 | g.159341540C= | CA1507167678 | RAPGEF2 | c.2052-24C= (n.2052-24C=) c.2535-24C= (n.2535-24C=) c.2517-24C= (n.2517-24C=) c.2181-24C= (n.2181-24C=) c.2187-24C= (n.2187-24C=) c.2199-24C= (n.2199-24C=) c.2169-24C= (n.2169-24C=) | |
| 4 | g.159341540C>G | CA1070051636 | RAPGEF2 | c.2052-24C>G (n.2052-24C>G) c.2535-24C>G (n.2535-24C>G) c.2517-24C>G (n.2517-24C>G) c.2181-24C>G (n.2181-24C>G) c.2187-24C>G (n.2187-24C>G) c.2199-24C>G (n.2199-24C>G) c.2169-24C>G (n.2169-24C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.159341541T>C | CA2672534851 | RAPGEF2 | c.2052-23T>C (n.2052-23T>C) c.2535-23T>C (n.2535-23T>C) c.2517-23T>C (n.2517-23T>C) c.2181-23T>C (n.2181-23T>C) c.2187-23T>C (n.2187-23T>C) c.2199-23T>C (n.2199-23T>C) c.2169-23T>C (n.2169-23T>C) | gnomAD v4 |
| 4 | g.159341542G>A | CA3124780 | RAPGEF2 | c.2052-22G>A (n.2052-22G>A) c.2535-22G>A (n.2535-22G>A) c.2517-22G>A (n.2517-22G>A) c.2181-22G>A (n.2181-22G>A) c.2187-22G>A (n.2187-22G>A) c.2199-22G>A (n.2199-22G>A) c.2169-22G>A (n.2169-22G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.159341542G>C | CA2672534852 | RAPGEF2 | c.2052-22G>C (n.2052-22G>C) c.2535-22G>C (n.2535-22G>C) c.2517-22G>C (n.2517-22G>C) c.2181-22G>C (n.2181-22G>C) c.2187-22G>C (n.2187-22G>C) c.2199-22G>C (n.2199-22G>C) c.2169-22G>C (n.2169-22G>C) | gnomAD v4 |
| 4 | g.159341542G= | CA1507167679 | RAPGEF2 | c.2052-22G= (n.2052-22G=) c.2535-22G= (n.2535-22G=) c.2517-22G= (n.2517-22G=) c.2181-22G= (n.2181-22G=) c.2187-22G= (n.2187-22G=) c.2199-22G= (n.2199-22G=) c.2169-22G= (n.2169-22G=) | |
| 4 | g.159341542G>T | CA2528906886 | RAPGEF2 | c.2052-22G>T (n.2052-22G>T) c.2535-22G>T (n.2535-22G>T) c.2517-22G>T (n.2517-22G>T) c.2181-22G>T (n.2181-22G>T) c.2187-22G>T (n.2187-22G>T) c.2199-22G>T (n.2199-22G>T) c.2169-22G>T (n.2169-22G>T) | |
| 4 | g.159341544T>G | CA3124781 | RAPGEF2 | c.2052-20T>G (n.2052-20T>G) c.2535-20T>G (n.2535-20T>G) c.2517-20T>G (n.2517-20T>G) c.2181-20T>G (n.2181-20T>G) c.2187-20T>G (n.2187-20T>G) c.2199-20T>G (n.2199-20T>G) c.2169-20T>G (n.2169-20T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.159341544T= | CA1507167680 | RAPGEF2 | c.2052-20T= (n.2052-20T=) c.2535-20T= (n.2535-20T=) c.2517-20T= (n.2517-20T=) c.2181-20T= (n.2181-20T=) c.2187-20T= (n.2187-20T=) c.2199-20T= (n.2199-20T=) c.2169-20T= (n.2169-20T=) | |
| 4 | g.159341545A= | CA1507167681 | RAPGEF2 | c.2052-19A= (n.2052-19A=) c.2535-19A= (n.2535-19A=) c.2517-19A= (n.2517-19A=) c.2181-19A= (n.2181-19A=) c.2187-19A= (n.2187-19A=) c.2199-19A= (n.2199-19A=) c.2169-19A= (n.2169-19A=) | |
| 4 | g.159341545A>C | CA556205734 | RAPGEF2 | c.2052-19A>C (n.2052-19A>C) c.2535-19A>C (n.2535-19A>C) c.2517-19A>C (n.2517-19A>C) c.2181-19A>C (n.2181-19A>C) c.2187-19A>C (n.2187-19A>C) c.2199-19A>C (n.2199-19A>C) c.2169-19A>C (n.2169-19A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.159341545A>G | CA1070051647 | RAPGEF2 | c.2052-19A>G (n.2052-19A>G) c.2535-19A>G (n.2535-19A>G) c.2517-19A>G (n.2517-19A>G) c.2181-19A>G (n.2181-19A>G) c.2187-19A>G (n.2187-19A>G) c.2199-19A>G (n.2199-19A>G) c.2169-19A>G (n.2169-19A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.159341547G>C | CA556205736 | RAPGEF2 | c.2052-17G>C (n.2052-17G>C) c.2535-17G>C (n.2535-17G>C) c.2517-17G>C (n.2517-17G>C) c.2181-17G>C (n.2181-17G>C) c.2187-17G>C (n.2187-17G>C) c.2199-17G>C (n.2199-17G>C) c.2169-17G>C (n.2169-17G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.159341547G= | CA1507167682 | RAPGEF2 | c.2052-17G= (n.2052-17G=) c.2535-17G= (n.2535-17G=) c.2517-17G= (n.2517-17G=) c.2181-17G= (n.2181-17G=) c.2187-17G= (n.2187-17G=) c.2199-17G= (n.2199-17G=) c.2169-17G= (n.2169-17G=) | |
| 4 | g.159341547G>T | CA2518289066 | RAPGEF2 | c.2052-17G>T (n.2052-17G>T) c.2535-17G>T (n.2535-17G>T) c.2517-17G>T (n.2517-17G>T) c.2181-17G>T (n.2181-17G>T) c.2187-17G>T (n.2187-17G>T) c.2199-17G>T (n.2199-17G>T) c.2169-17G>T (n.2169-17G>T) | |
| 4 | g.159341548T>G | CA2672534854 | RAPGEF2 | c.2052-16T>G (n.2052-16T>G) c.2535-16T>G (n.2535-16T>G) c.2517-16T>G (n.2517-16T>G) c.2181-16T>G (n.2181-16T>G) c.2187-16T>G (n.2187-16T>G) c.2199-16T>G (n.2199-16T>G) c.2169-16T>G (n.2169-16T>G) | gnomAD v4 |
| 4 | g.159341552T>C | CA2578224655 | RAPGEF2 | c.2052-12T>C (n.2052-12T>C) c.2535-12T>C (n.2535-12T>C) c.2517-12T>C (n.2517-12T>C) c.2181-12T>C (n.2181-12T>C) c.2187-12T>C (n.2187-12T>C) c.2199-12T>C (n.2199-12T>C) c.2169-12T>C (n.2169-12T>C) | gnomAD v4 |
| 4 | g.159341556_159341557insCCATGTTGTTT | CA2830535174 | RAPGEF2 | c.2052-8_2052-7insCCATGTTGTTT (n.2052-8_2052-7insCCATGTTGTTT) c.2535-8_2535-7insCCATGTTGTTT (n.2535-8_2535-7insCCATGTTGTTT) c.2517-8_2517-7insCCATGTTGTTT (n.2517-8_2517-7insCCATGTTGTTT) c.2181-8_2181-7insCCATGTTGTTT (n.2181-8_2181-7insCCATGTTGTTT) c.2187-8_2187-7insCCATGTTGTTT (n.2187-8_2187-7insCCATGTTGTTT) c.2199-8_2199-7insCCATGTTGTTT (n.2199-8_2199-7insCCATGTTGTTT) c.2169-8_2169-7insCCATGTTGTTT (n.2169-8_2169-7insCCATGTTGTTT) | |
| 4 | g.159341553G>A | CA3124782 | RAPGEF2 | c.2052-11G>A (n.2052-11G>A) c.2535-11G>A (n.2535-11G>A) c.2517-11G>A (n.2517-11G>A) c.2181-11G>A (n.2181-11G>A) c.2187-11G>A (n.2187-11G>A) c.2199-11G>A (n.2199-11G>A) c.2169-11G>A (n.2169-11G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.159341553G= | CA1507167683 | RAPGEF2 | c.2052-11G= (n.2052-11G=) c.2535-11G= (n.2535-11G=) c.2517-11G= (n.2517-11G=) c.2181-11G= (n.2181-11G=) c.2187-11G= (n.2187-11G=) c.2199-11G= (n.2199-11G=) c.2169-11G= (n.2169-11G=) | |
| 4 | g.159341554T>A | CA2672534857 | RAPGEF2 | c.2052-10T>A (n.2052-10T>A) c.2535-10T>A (n.2535-10T>A) c.2517-10T>A (n.2517-10T>A) c.2181-10T>A (n.2181-10T>A) c.2187-10T>A (n.2187-10T>A) c.2199-10T>A (n.2199-10T>A) c.2169-10T>A (n.2169-10T>A) | gnomAD v4 |
| 4 | g.159341554T>G | CA2672534858 | RAPGEF2 | c.2052-10T>G (n.2052-10T>G) c.2535-10T>G (n.2535-10T>G) c.2517-10T>G (n.2517-10T>G) c.2181-10T>G (n.2181-10T>G) c.2187-10T>G (n.2187-10T>G) c.2199-10T>G (n.2199-10T>G) c.2169-10T>G (n.2169-10T>G) | gnomAD v4 |
| 4 | g.159341558del | CA2672534856 | RAPGEF2 | c.2052-6del (n.2052-6del) c.2535-6del (n.2535-6del) c.2517-6del (n.2517-6del) c.2181-6del (n.2181-6del) c.2187-6del (n.2187-6del) c.2199-6del (n.2199-6del) c.2169-6del (n.2169-6del) | gnomAD v4 |
| 4 | g.159341557T>G | CA1507167685 | RAPGEF2 | c.2052-7T>G (n.2052-7T>G) c.2535-7T>G (n.2535-7T>G) c.2517-7T>G (n.2517-7T>G) c.2181-7T>G (n.2181-7T>G) c.2187-7T>G (n.2187-7T>G) c.2199-7T>G (n.2199-7T>G) c.2169-7T>G (n.2169-7T>G) | dbSNP gnomAD v4 |
| 4 | g.159341557T= | CA1507167684 | RAPGEF2 | c.2052-7T= (n.2052-7T=) c.2535-7T= (n.2535-7T=) c.2517-7T= (n.2517-7T=) c.2181-7T= (n.2181-7T=) c.2187-7T= (n.2187-7T=) c.2199-7T= (n.2199-7T=) c.2169-7T= (n.2169-7T=) | |
| 4 | g.159341558T>C | CA3124783 | RAPGEF2 | c.2052-6T>C (n.2052-6T>C) c.2535-6T>C (n.2535-6T>C) c.2517-6T>C (n.2517-6T>C) c.2181-6T>C (n.2181-6T>C) c.2187-6T>C (n.2187-6T>C) c.2199-6T>C (n.2199-6T>C) c.2169-6T>C (n.2169-6T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.159341558T>G | CA2672534859 | RAPGEF2 | c.2052-6T>G (n.2052-6T>G) c.2535-6T>G (n.2535-6T>G) c.2517-6T>G (n.2517-6T>G) c.2181-6T>G (n.2181-6T>G) c.2187-6T>G (n.2187-6T>G) c.2199-6T>G (n.2199-6T>G) c.2169-6T>G (n.2169-6T>G) | gnomAD v4 |
| 4 | g.159341558T= | CA1507167686 | RAPGEF2 | c.2052-6T= (n.2052-6T=) c.2535-6T= (n.2535-6T=) c.2517-6T= (n.2517-6T=) c.2181-6T= (n.2181-6T=) c.2187-6T= (n.2187-6T=) c.2199-6T= (n.2199-6T=) c.2169-6T= (n.2169-6T=) | |
| 4 | g.159341559C= | CA1507167687 | RAPGEF2 | c.2052-5C= (n.2052-5C=) c.2535-5C= (n.2535-5C=) c.2517-5C= (n.2517-5C=) c.2181-5C= (n.2181-5C=) c.2187-5C= (n.2187-5C=) c.2199-5C= (n.2199-5C=) c.2169-5C= (n.2169-5C=) | |
| 4 | g.159341559C>T | CA108901814 | RAPGEF2 | c.2052-5C>T (n.2052-5C>T) c.2535-5C>T (n.2535-5C>T) c.2517-5C>T (n.2517-5C>T) c.2181-5C>T (n.2181-5C>T) c.2187-5C>T (n.2187-5C>T) c.2199-5C>T (n.2199-5C>T) c.2169-5C>T (n.2169-5C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.159341560A= | CA1507167688 | RAPGEF2 | c.2052-4A= (n.2052-4A=) c.2535-4A= (n.2535-4A=) c.2517-4A= (n.2517-4A=) c.2181-4A= (n.2181-4A=) c.2187-4A= (n.2187-4A=) c.2199-4A= (n.2199-4A=) c.2169-4A= (n.2169-4A=) | |
| 4 | g.159341560A>C | CA108901816 | RAPGEF2 | c.2052-4A>C (n.2052-4A>C) c.2535-4A>C (n.2535-4A>C) c.2517-4A>C (n.2517-4A>C) c.2181-4A>C (n.2181-4A>C) c.2187-4A>C (n.2187-4A>C) c.2199-4A>C (n.2199-4A>C) c.2169-4A>C (n.2169-4A>C) | dbSNP gnomAD v4 |
| 4 | g.159341560A>G | CA3124784 | RAPGEF2 | c.2052-4A>G (n.2052-4A>G) c.2535-4A>G (n.2535-4A>G) c.2517-4A>G (n.2517-4A>G) c.2181-4A>G (n.2181-4A>G) c.2187-4A>G (n.2187-4A>G) c.2199-4A>G (n.2199-4A>G) c.2169-4A>G (n.2169-4A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.159341560A>T | CA2672534860 | RAPGEF2 | c.2052-4A>T (n.2052-4A>T) c.2535-4A>T (n.2535-4A>T) c.2517-4A>T (n.2517-4A>T) c.2181-4A>T (n.2181-4A>T) c.2187-4A>T (n.2187-4A>T) c.2199-4A>T (n.2199-4A>T) c.2169-4A>T (n.2169-4A>T) | gnomAD v4 |
| 4 | g.159341561_159341562del | CA2830535179 | RAPGEF2 | c.2052-3_2052-2del (n.2052-3_2052-2del) c.2535-3_2535-2del (n.2535-3_2535-2del) c.2517-3_2517-2del (n.2517-3_2517-2del) c.2181-3_2181-2del (n.2181-3_2181-2del) c.2187-3_2187-2del (n.2187-3_2187-2del) c.2199-3_2199-2del (n.2199-3_2199-2del) c.2169-3_2169-2del (n.2169-3_2169-2del) | |
| 4 | g.159341561T>C | CA556205739 | RAPGEF2 | c.2052-3T>C (n.2052-3T>C) c.2535-3T>C (n.2535-3T>C) c.2517-3T>C (n.2517-3T>C) c.2181-3T>C (n.2181-3T>C) c.2187-3T>C (n.2187-3T>C) c.2199-3T>C (n.2199-3T>C) c.2169-3T>C (n.2169-3T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.159341561T= | CA1507167689 | RAPGEF2 | c.2052-3T= (n.2052-3T=) c.2535-3T= (n.2535-3T=) c.2517-3T= (n.2517-3T=) c.2181-3T= (n.2181-3T=) c.2187-3T= (n.2187-3T=) c.2199-3T= (n.2199-3T=) c.2169-3T= (n.2169-3T=) | |
| 4 | g.159341562A= | CA1507167690 | RAPGEF2 | c.2052-2A= (n.2052-2A=) c.2535-2A= (n.2535-2A=) c.2517-2A= (n.2517-2A=) c.2181-2A= (n.2181-2A=) c.2187-2A= (n.2187-2A=) c.2199-2A= (n.2199-2A=) c.2169-2A= (n.2169-2A=) | |
| 4 | g.159341562A>C | CA358590968 | RAPGEF2 | c.2052-2A>C (n.2052-2A>C) c.2535-2A>C (n.2535-2A>C) c.2517-2A>C (n.2517-2A>C) c.2181-2A>C (n.2181-2A>C) c.2187-2A>C (n.2187-2A>C) c.2199-2A>C (n.2199-2A>C) c.2169-2A>C (n.2169-2A>C) | |
| 4 | g.159341562A>G | CA358590969 | RAPGEF2 | c.2052-2A>G (n.2052-2A>G) c.2535-2A>G (n.2535-2A>G) c.2517-2A>G (n.2517-2A>G) c.2181-2A>G (n.2181-2A>G) c.2187-2A>G (n.2187-2A>G) c.2199-2A>G (n.2199-2A>G) c.2169-2A>G (n.2169-2A>G) | |
| 4 | g.159341562A>T | CA358590970 | RAPGEF2 | c.2052-2A>T (n.2052-2A>T) c.2535-2A>T (n.2535-2A>T) c.2517-2A>T (n.2517-2A>T) c.2181-2A>T (n.2181-2A>T) c.2187-2A>T (n.2187-2A>T) c.2199-2A>T (n.2199-2A>T) c.2169-2A>T (n.2169-2A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.159341563G>A | CA358590971 | RAPGEF2 | c.2052-1G>A (n.2052-1G>A) c.2535-1G>A (n.2535-1G>A) c.2517-1G>A (n.2517-1G>A) c.2181-1G>A (n.2181-1G>A) c.2187-1G>A (n.2187-1G>A) c.2199-1G>A (n.2199-1G>A) c.2169-1G>A (n.2169-1G>A) | |
| 4 | g.159341563G>C | CA358590972 | RAPGEF2 | c.2052-1G>C (n.2052-1G>C) c.2535-1G>C (n.2535-1G>C) c.2517-1G>C (n.2517-1G>C) c.2181-1G>C (n.2181-1G>C) c.2187-1G>C (n.2187-1G>C) c.2199-1G>C (n.2199-1G>C) c.2169-1G>C (n.2169-1G>C) | |
| 4 | g.159341563G= | CA1507167691 | RAPGEF2 | c.2052-1G= (n.2052-1G=) c.2535-1G= (n.2535-1G=) c.2517-1G= (n.2517-1G=) c.2181-1G= (n.2181-1G=) c.2187-1G= (n.2187-1G=) c.2199-1G= (n.2199-1G=) c.2169-1G= (n.2169-1G=) | |
| 4 | g.159341563G>T | CA358590973 | RAPGEF2 | c.2052-1G>T (n.2052-1G>T) c.2535-1G>T (n.2535-1G>T) c.2517-1G>T (n.2517-1G>T) c.2181-1G>T (n.2181-1G>T) c.2187-1G>T (n.2187-1G>T) c.2199-1G>T (n.2199-1G>T) c.2169-1G>T (n.2169-1G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.159341564G>A | CA442144654 | RAPGEF2 | c.2052G>A (p.Arg684=) c.2535G>A (p.Arg845=) c.2517G>A (p.Arg839=) c.2181G>A (p.Arg727=) c.2187G>A (p.Arg729=) c.2199G>A (p.Arg733=) c.2169G>A (p.Arg723=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.159341564G>C | CA358590975 | RAPGEF2 | c.2052G>C (p.Arg684Ser) c.2535G>C (p.Arg845Ser) c.2517G>C (p.Arg839Ser) c.2181G>C (p.Arg727Ser) c.2187G>C (p.Arg729Ser) c.2199G>C (p.Arg733Ser) c.2169G>C (p.Arg723Ser) | |
| 4 | g.159341564G= | CA1507167692 | RAPGEF2 | c.2052G= (p.Arg684=) c.2535G= (p.Arg845=) c.2517G= (p.Arg839=) c.2181G= (p.Arg727=) c.2187G= (p.Arg729=) c.2199G= (p.Arg733=) c.2169G= (p.Arg723=) | |
| 4 | g.159341564G>T | CA358590974 | RAPGEF2 | c.2052G>T (p.Arg684Ser) c.2535G>T (p.Arg845Ser) c.2517G>T (p.Arg839Ser) c.2181G>T (p.Arg727Ser) c.2187G>T (p.Arg729Ser) c.2199G>T (p.Arg733Ser) c.2169G>T (p.Arg723Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.159341565T>A | CA358590976 | RAPGEF2 | c.2053T>A (p.Tyr685Asn) c.2536T>A (p.Tyr846Asn) c.2518T>A (p.Tyr840Asn) c.2182T>A (p.Tyr728Asn) c.2188T>A (p.Tyr730Asn) c.2200T>A (p.Tyr734Asn) c.2170T>A (p.Tyr724Asn) | |
| 4 | g.159341565T>C | CA358590977 | RAPGEF2 | c.2053T>C (p.Tyr685His) c.2536T>C (p.Tyr846His) c.2518T>C (p.Tyr840His) c.2182T>C (p.Tyr728His) c.2188T>C (p.Tyr730His) c.2200T>C (p.Tyr734His) c.2170T>C (p.Tyr724His) | |
| 4 | g.159341565T>G | CA358590978 | RAPGEF2 | c.2053T>G (p.Tyr685Asp) c.2536T>G (p.Tyr846Asp) c.2518T>G (p.Tyr840Asp) c.2182T>G (p.Tyr728Asp) c.2188T>G (p.Tyr730Asp) c.2200T>G (p.Tyr734Asp) c.2170T>G (p.Tyr724Asp) | |
| 4 | g.159341566A>C | CA358590979 | RAPGEF2 | c.2054A>C (p.Tyr685Ser) c.2537A>C (p.Tyr846Ser) c.2519A>C (p.Tyr840Ser) c.2183A>C (p.Tyr728Ser) c.2189A>C (p.Tyr730Ser) c.2201A>C (p.Tyr734Ser) c.2171A>C (p.Tyr724Ser) | |
| 4 | g.159341566A>G | CA358590980 | RAPGEF2 | c.2054A>G (p.Tyr685Cys) c.2537A>G (p.Tyr846Cys) c.2519A>G (p.Tyr840Cys) c.2183A>G (p.Tyr728Cys) c.2189A>G (p.Tyr730Cys) c.2201A>G (p.Tyr734Cys) c.2171A>G (p.Tyr724Cys) | |
| 4 | g.159341566A>T | CA358590981 | RAPGEF2 | c.2054A>T (p.Tyr685Phe) c.2537A>T (p.Tyr846Phe) c.2519A>T (p.Tyr840Phe) c.2183A>T (p.Tyr728Phe) c.2189A>T (p.Tyr730Phe) c.2201A>T (p.Tyr734Phe) c.2171A>T (p.Tyr724Phe) | gnomAD v4 |
| 4 | g.159341567T>A | CA358590983 | RAPGEF2 | c.2055T>A (p.Tyr685Ter) c.2538T>A (p.Tyr846Ter) c.2520T>A (p.Tyr840Ter) c.2184T>A (p.Tyr728Ter) c.2190T>A (p.Tyr730Ter) c.2202T>A (p.Tyr734Ter) c.2172T>A (p.Tyr724Ter) | |
| 4 | g.159341567T>C | CA442144655 | RAPGEF2 | c.2055T>C (p.Tyr685=) c.2538T>C (p.Tyr846=) c.2520T>C (p.Tyr840=) c.2184T>C (p.Tyr728=) c.2190T>C (p.Tyr730=) c.2202T>C (p.Tyr734=) c.2172T>C (p.Tyr724=) | |
| 4 | g.159341567T>G | CA358590982 | RAPGEF2 | c.2055T>G (p.Tyr685Ter) c.2538T>G (p.Tyr846Ter) c.2520T>G (p.Tyr840Ter) c.2184T>G (p.Tyr728Ter) c.2190T>G (p.Tyr730Ter) c.2202T>G (p.Tyr734Ter) c.2172T>G (p.Tyr724Ter) | |
| 4 | g.159341568T>A | CA358590984 | RAPGEF2 | c.2056T>A (p.Tyr686Asn) c.2539T>A (p.Tyr847Asn) c.2521T>A (p.Tyr841Asn) c.2185T>A (p.Tyr729Asn) c.2191T>A (p.Tyr731Asn) c.2203T>A (p.Tyr735Asn) c.2173T>A (p.Tyr725Asn) | |
| 4 | g.159341568T>C | CA358590985 | RAPGEF2 | c.2056T>C (p.Tyr686His) c.2539T>C (p.Tyr847His) c.2521T>C (p.Tyr841His) c.2185T>C (p.Tyr729His) c.2191T>C (p.Tyr731His) c.2203T>C (p.Tyr735His) c.2173T>C (p.Tyr725His) | |
| 4 | g.159341568T>G | CA358590986 | RAPGEF2 | c.2056T>G (p.Tyr686Asp) c.2539T>G (p.Tyr847Asp) c.2521T>G (p.Tyr841Asp) c.2185T>G (p.Tyr729Asp) c.2191T>G (p.Tyr731Asp) c.2203T>G (p.Tyr735Asp) c.2173T>G (p.Tyr725Asp) | |
| 4 | g.159341569A>C | CA358590987 | RAPGEF2 | c.2057A>C (p.Tyr686Ser) c.2540A>C (p.Tyr847Ser) c.2522A>C (p.Tyr841Ser) c.2186A>C (p.Tyr729Ser) c.2192A>C (p.Tyr731Ser) c.2204A>C (p.Tyr735Ser) c.2174A>C (p.Tyr725Ser) | |
| 4 | g.159341569A>G | CA358590988 | RAPGEF2 | c.2057A>G (p.Tyr686Cys) c.2540A>G (p.Tyr847Cys) c.2522A>G (p.Tyr841Cys) c.2186A>G (p.Tyr729Cys) c.2192A>G (p.Tyr731Cys) c.2204A>G (p.Tyr735Cys) c.2174A>G (p.Tyr725Cys) | |
| 4 | g.159341569A>T | CA358590989 | RAPGEF2 | c.2057A>T (p.Tyr686Phe) c.2540A>T (p.Tyr847Phe) c.2522A>T (p.Tyr841Phe) c.2186A>T (p.Tyr729Phe) c.2192A>T (p.Tyr731Phe) c.2204A>T (p.Tyr735Phe) c.2174A>T (p.Tyr725Phe) | |
| 4 | g.159341569_159341570insCC | CA2830535180 | RAPGEF2 | c.2057_2058insCC (p.Lys688Ter) c.2540_2541insCC (p.Lys849Ter) c.2522_2523insCC (p.Lys843Ter) c.2186_2187insCC (p.Lys731Ter) c.2192_2193insCC (p.Lys733Ter) c.2204_2205insCC (p.Lys737Ter) c.2174_2175insCC (p.Lys727Ter) | |
| 4 | g.159341570T>A | CA358590990 | RAPGEF2 | c.2058T>A (p.Tyr686Ter) c.2541T>A (p.Tyr847Ter) c.2523T>A (p.Tyr841Ter) c.2187T>A (p.Tyr729Ter) c.2193T>A (p.Tyr731Ter) c.2205T>A (p.Tyr735Ter) c.2175T>A (p.Tyr725Ter) | |
| 4 | g.159341570T>C | CA3124785 | RAPGEF2 | c.2058T>C (p.Tyr686=) c.2541T>C (p.Tyr847=) c.2523T>C (p.Tyr841=) c.2187T>C (p.Tyr729=) c.2193T>C (p.Tyr731=) c.2205T>C (p.Tyr735=) c.2175T>C (p.Tyr725=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.159341570T>G | CA358590991 | RAPGEF2 | c.2058T>G (p.Tyr686Ter) c.2541T>G (p.Tyr847Ter) c.2523T>G (p.Tyr841Ter) c.2187T>G (p.Tyr729Ter) c.2193T>G (p.Tyr731Ter) c.2205T>G (p.Tyr735Ter) c.2175T>G (p.Tyr725Ter) | |
| 4 | g.159341570T= | CA1507167693 | RAPGEF2 | c.2058T= (p.Tyr686=) c.2541T= (p.Tyr847=) c.2523T= (p.Tyr841=) c.2187T= (p.Tyr729=) c.2193T= (p.Tyr731=) c.2205T= (p.Tyr735=) c.2175T= (p.Tyr725=) | |
| 4 | g.159341571C>A | CA358590992 | RAPGEF2 | c.2059C>A (p.Leu687Met) c.2542C>A (p.Leu848Met) c.2524C>A (p.Leu842Met) c.2188C>A (p.Leu730Met) c.2194C>A (p.Leu732Met) c.2206C>A (p.Leu736Met) c.2176C>A (p.Leu726Met) | |
| 4 | g.159341571C>G | CA358590993 | RAPGEF2 | c.2059C>G (p.Leu687Val) c.2542C>G (p.Leu848Val) c.2524C>G (p.Leu842Val) c.2188C>G (p.Leu730Val) c.2194C>G (p.Leu732Val) c.2206C>G (p.Leu736Val) c.2176C>G (p.Leu726Val) | gnomAD v4 |
| 4 | g.159341571C>T | CA442144656 | RAPGEF2 | c.2059C>T (p.Leu687=) c.2542C>T (p.Leu848=) c.2524C>T (p.Leu842=) c.2188C>T (p.Leu730=) c.2194C>T (p.Leu732=) c.2206C>T (p.Leu736=) c.2176C>T (p.Leu726=) | |
| 4 | g.159341572T>A | CA358590994 | RAPGEF2 | c.2060T>A (p.Leu687Gln) c.2543T>A (p.Leu848Gln) c.2525T>A (p.Leu842Gln) c.2189T>A (p.Leu730Gln) c.2195T>A (p.Leu732Gln) c.2207T>A (p.Leu736Gln) c.2177T>A (p.Leu726Gln) | |
| 4 | g.159341572T>C | CA358590995 | RAPGEF2 | c.2060T>C (p.Leu687Pro) c.2543T>C (p.Leu848Pro) c.2525T>C (p.Leu842Pro) c.2189T>C (p.Leu730Pro) c.2195T>C (p.Leu732Pro) c.2207T>C (p.Leu736Pro) c.2177T>C (p.Leu726Pro) | |
| 4 | g.159341572T>G | CA358590996 | RAPGEF2 | c.2060T>G (p.Leu687Arg) c.2543T>G (p.Leu848Arg) c.2525T>G (p.Leu842Arg) c.2189T>G (p.Leu730Arg) c.2195T>G (p.Leu732Arg) c.2207T>G (p.Leu736Arg) c.2177T>G (p.Leu726Arg) | |
| 4 | g.159341573G>A | CA442144659 | RAPGEF2 | c.2061G>A (p.Leu687=) c.2544G>A (p.Leu848=) c.2526G>A (p.Leu842=) c.2190G>A (p.Leu730=) c.2196G>A (p.Leu732=) c.2208G>A (p.Leu736=) c.2178G>A (p.Leu726=) | |
| 4 | g.159341573G>C | CA442144657 | RAPGEF2 | c.2061G>C (p.Leu687=) c.2544G>C (p.Leu848=) c.2526G>C (p.Leu842=) c.2190G>C (p.Leu730=) c.2196G>C (p.Leu732=) c.2208G>C (p.Leu736=) c.2178G>C (p.Leu726=) | |
| 4 | g.159341573G>T | CA442144658 | RAPGEF2 | c.2061G>T (p.Leu687=) c.2544G>T (p.Leu848=) c.2526G>T (p.Leu842=) c.2190G>T (p.Leu730=) c.2196G>T (p.Leu732=) c.2208G>T (p.Leu736=) c.2178G>T (p.Leu726=) | |
| 4 | g.159341574A>C | CA358590997 | RAPGEF2 | c.2062A>C (p.Lys688Gln) c.2545A>C (p.Lys849Gln) c.2527A>C (p.Lys843Gln) c.2191A>C (p.Lys731Gln) c.2197A>C (p.Lys733Gln) c.2209A>C (p.Lys737Gln) c.2179A>C (p.Lys727Gln) | |
| 4 | g.159341574A>G | CA358590998 | RAPGEF2 | c.2062A>G (p.Lys688Glu) c.2545A>G (p.Lys849Glu) c.2527A>G (p.Lys843Glu) c.2191A>G (p.Lys731Glu) c.2197A>G (p.Lys733Glu) c.2209A>G (p.Lys737Glu) c.2179A>G (p.Lys727Glu) | |
| 4 | g.159341574A>T | CA358590999 | RAPGEF2 | c.2062A>T (p.Lys688Ter) c.2545A>T (p.Lys849Ter) c.2527A>T (p.Lys843Ter) c.2191A>T (p.Lys731Ter) c.2197A>T (p.Lys733Ter) c.2209A>T (p.Lys737Ter) c.2179A>T (p.Lys727Ter) | |
| 4 | g.159341578dup | CA2764227050 | RAPGEF2 | c.2066dup (p.Asn689LysfsTer12) c.2549dup (p.Asn850LysfsTer12) c.2531dup (p.Asn844LysfsTer12) c.2195dup (p.Asn732LysfsTer12) c.2201dup (p.Asn734LysfsTer12) c.2213dup (p.Asn738LysfsTer12) c.2183dup (p.Asn728LysfsTer12) | |
| 4 | g.159341575A>C | CA358591000 | RAPGEF2 | c.2063A>C (p.Lys688Thr) c.2546A>C (p.Lys849Thr) c.2528A>C (p.Lys843Thr) c.2192A>C (p.Lys731Thr) c.2198A>C (p.Lys733Thr) c.2210A>C (p.Lys737Thr) c.2180A>C (p.Lys727Thr) | |
| 4 | g.159341575A>G | CA358591001 | RAPGEF2 | c.2063A>G (p.Lys688Arg) c.2546A>G (p.Lys849Arg) c.2528A>G (p.Lys843Arg) c.2192A>G (p.Lys731Arg) c.2198A>G (p.Lys733Arg) c.2210A>G (p.Lys737Arg) c.2180A>G (p.Lys727Arg) | |
| 4 | g.159341575A>T | CA358591002 | RAPGEF2 | c.2063A>T (p.Lys688Ile) c.2546A>T (p.Lys849Ile) c.2528A>T (p.Lys843Ile) c.2192A>T (p.Lys731Ile) c.2198A>T (p.Lys733Ile) c.2210A>T (p.Lys737Ile) c.2180A>T (p.Lys727Ile) | |
| 4 | g.159341576A>C | CA358591003 | RAPGEF2 | c.2064A>C (p.Lys688Asn) c.2547A>C (p.Lys849Asn) c.2529A>C (p.Lys843Asn) c.2193A>C (p.Lys731Asn) c.2199A>C (p.Lys733Asn) c.2211A>C (p.Lys737Asn) c.2181A>C (p.Lys727Asn) | |
| 4 | g.159341576A>G | CA442144660 | RAPGEF2 | c.2064A>G (p.Lys688=) c.2547A>G (p.Lys849=) c.2529A>G (p.Lys843=) c.2193A>G (p.Lys731=) c.2199A>G (p.Lys733=) c.2211A>G (p.Lys737=) c.2181A>G (p.Lys727=) | |
| 4 | g.159341576A>T | CA358591004 | RAPGEF2 | c.2064A>T (p.Lys688Asn) c.2547A>T (p.Lys849Asn) c.2529A>T (p.Lys843Asn) c.2193A>T (p.Lys731Asn) c.2199A>T (p.Lys733Asn) c.2211A>T (p.Lys737Asn) c.2181A>T (p.Lys727Asn) | |
| 4 | g.159341577A= | CA1507167694 | RAPGEF2 | c.2065A= (p.Asn689=) c.2548A= (p.Asn850=) c.2530A= (p.Asn844=) c.2194A= (p.Asn732=) c.2200A= (p.Asn734=) c.2212A= (p.Asn738=) c.2182A= (p.Asn728=) | |
| 4 | g.159341577A>C | CA358591005 | RAPGEF2 | c.2065A>C (p.Asn689His) c.2548A>C (p.Asn850His) c.2530A>C (p.Asn844His) c.2194A>C (p.Asn732His) c.2200A>C (p.Asn734His) c.2212A>C (p.Asn738His) c.2182A>C (p.Asn728His) | |
| 4 | g.159341577A>G | CA3124786 | RAPGEF2 | c.2065A>G (p.Asn689Asp) c.2548A>G (p.Asn850Asp) c.2530A>G (p.Asn844Asp) c.2194A>G (p.Asn732Asp) c.2200A>G (p.Asn734Asp) c.2212A>G (p.Asn738Asp) c.2182A>G (p.Asn728Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.159341577A>T | CA358591006 | RAPGEF2 | c.2065A>T (p.Asn689Tyr) c.2548A>T (p.Asn850Tyr) c.2530A>T (p.Asn844Tyr) c.2194A>T (p.Asn732Tyr) c.2200A>T (p.Asn734Tyr) c.2212A>T (p.Asn738Tyr) c.2182A>T (p.Asn728Tyr) | |
| 4 | g.159341578A>C | CA358591007 | RAPGEF2 | c.2066A>C (p.Asn689Thr) c.2549A>C (p.Asn850Thr) c.2531A>C (p.Asn844Thr) c.2195A>C (p.Asn732Thr) c.2201A>C (p.Asn734Thr) c.2213A>C (p.Asn738Thr) c.2183A>C (p.Asn728Thr) | |
| 4 | g.159341578A>G | CA358591008 | RAPGEF2 | c.2066A>G (p.Asn689Ser) c.2549A>G (p.Asn850Ser) c.2531A>G (p.Asn844Ser) c.2195A>G (p.Asn732Ser) c.2201A>G (p.Asn734Ser) c.2213A>G (p.Asn738Ser) c.2183A>G (p.Asn728Ser) | |
| 4 | g.159341578A>T | CA358591009 | RAPGEF2 | c.2066A>T (p.Asn689Ile) c.2549A>T (p.Asn850Ile) c.2531A>T (p.Asn844Ile) c.2195A>T (p.Asn732Ile) c.2201A>T (p.Asn734Ile) c.2213A>T (p.Asn738Ile) c.2183A>T (p.Asn728Ile) | |
| 4 | g.159341579C>A | CA358591010 | RAPGEF2 | c.2067C>A (p.Asn689Lys) c.2550C>A (p.Asn850Lys) c.2532C>A (p.Asn844Lys) c.2196C>A (p.Asn732Lys) c.2202C>A (p.Asn734Lys) c.2214C>A (p.Asn738Lys) c.2184C>A (p.Asn728Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.159341579C= | CA1507167695 | RAPGEF2 | c.2067C= (p.Asn689=) c.2550C= (p.Asn850=) c.2532C= (p.Asn844=) c.2196C= (p.Asn732=) c.2202C= (p.Asn734=) c.2214C= (p.Asn738=) c.2184C= (p.Asn728=) | |
| 4 | g.159341579C>G | CA358591011 | RAPGEF2 | c.2067C>G (p.Asn689Lys) c.2550C>G (p.Asn850Lys) c.2532C>G (p.Asn844Lys) c.2196C>G (p.Asn732Lys) c.2202C>G (p.Asn734Lys) c.2214C>G (p.Asn738Lys) c.2184C>G (p.Asn728Lys) | |
| 4 | g.159341579C>T | CA442144661 | RAPGEF2 | c.2067C>T (p.Asn689=) c.2550C>T (p.Asn850=) c.2532C>T (p.Asn844=) c.2196C>T (p.Asn732=) c.2202C>T (p.Asn734=) c.2214C>T (p.Asn738=) c.2184C>T (p.Asn728=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.159341580A>C | CA358591012 | RAPGEF2 | c.2068A>C (p.Asn690His) c.2551A>C (p.Asn851His) c.2533A>C (p.Asn845His) c.2197A>C (p.Asn733His) c.2203A>C (p.Asn735His) c.2215A>C (p.Asn739His) c.2185A>C (p.Asn729His) | |
| 4 | g.159341580A>G | CA358591013 | RAPGEF2 | c.2068A>G (p.Asn690Asp) c.2551A>G (p.Asn851Asp) c.2533A>G (p.Asn845Asp) c.2197A>G (p.Asn733Asp) c.2203A>G (p.Asn735Asp) c.2215A>G (p.Asn739Asp) c.2185A>G (p.Asn729Asp) | |
| 4 | g.159341580A>T | CA358591014 | RAPGEF2 | c.2068A>T (p.Asn690Tyr) c.2551A>T (p.Asn851Tyr) c.2533A>T (p.Asn845Tyr) c.2197A>T (p.Asn733Tyr) c.2203A>T (p.Asn735Tyr) c.2215A>T (p.Asn739Tyr) c.2185A>T (p.Asn729Tyr) | |
| 4 | g.159341581dup | CA645540199 | RAPGEF2 | c.2069dup (p.Asn690LysfsTer11) c.2552dup (p.Asn851LysfsTer11) c.2534dup (p.Asn845LysfsTer11) c.2198dup (p.Asn733LysfsTer11) c.2204dup (p.Asn735LysfsTer11) c.2216dup (p.Asn739LysfsTer11) c.2186dup (p.Asn729LysfsTer11) | COSMIC |
| 4 | g.159341581A>C | CA358591015 | RAPGEF2 | c.2069A>C (p.Asn690Thr) c.2552A>C (p.Asn851Thr) c.2534A>C (p.Asn845Thr) c.2198A>C (p.Asn733Thr) c.2204A>C (p.Asn735Thr) c.2216A>C (p.Asn739Thr) c.2186A>C (p.Asn729Thr) | |
| 4 | g.159341581A>G | CA358591016 | RAPGEF2 | c.2069A>G (p.Asn690Ser) c.2552A>G (p.Asn851Ser) c.2534A>G (p.Asn845Ser) c.2198A>G (p.Asn733Ser) c.2204A>G (p.Asn735Ser) c.2216A>G (p.Asn739Ser) c.2186A>G (p.Asn729Ser) | gnomAD v4 |
| 4 | g.159341581A>T | CA358591017 | RAPGEF2 | c.2069A>T (p.Asn690Ile) c.2552A>T (p.Asn851Ile) c.2534A>T (p.Asn845Ile) c.2198A>T (p.Asn733Ile) c.2204A>T (p.Asn735Ile) c.2216A>T (p.Asn739Ile) c.2186A>T (p.Asn729Ile) | |
| 4 | g.159341582C>A | CA358591019 | RAPGEF2 | c.2070C>A (p.Asn690Lys) c.2553C>A (p.Asn851Lys) c.2535C>A (p.Asn845Lys) c.2199C>A (p.Asn733Lys) c.2205C>A (p.Asn735Lys) c.2217C>A (p.Asn739Lys) c.2187C>A (p.Asn729Lys) | |
| 4 | g.159341582C>G | CA358591018 | RAPGEF2 | c.2070C>G (p.Asn690Lys) c.2553C>G (p.Asn851Lys) c.2535C>G (p.Asn845Lys) c.2199C>G (p.Asn733Lys) c.2205C>G (p.Asn735Lys) c.2217C>G (p.Asn739Lys) c.2187C>G (p.Asn729Lys) | |
| 4 | g.159341582C>T | CA442144662 | RAPGEF2 | c.2070C>T (p.Asn690=) c.2553C>T (p.Asn851=) c.2535C>T (p.Asn845=) c.2199C>T (p.Asn733=) c.2205C>T (p.Asn735=) c.2217C>T (p.Asn739=) c.2187C>T (p.Asn729=) | |
| 4 | g.159341583A>C | CA358591020 | RAPGEF2 | c.2071A>C (p.Met691Leu) c.2554A>C (p.Met852Leu) c.2536A>C (p.Met846Leu) c.2200A>C (p.Met734Leu) c.2206A>C (p.Met736Leu) c.2218A>C (p.Met740Leu) c.2188A>C (p.Met730Leu) | |
| 4 | g.159341583A>G | CA358591022 | RAPGEF2 | c.2071A>G (p.Met691Val) c.2554A>G (p.Met852Val) c.2536A>G (p.Met846Val) c.2200A>G (p.Met734Val) c.2206A>G (p.Met736Val) c.2218A>G (p.Met740Val) c.2188A>G (p.Met730Val) | gnomAD v4 |
| 4 | g.159341583A>T | CA358591021 | RAPGEF2 | c.2071A>T (p.Met691Leu) c.2554A>T (p.Met852Leu) c.2536A>T (p.Met846Leu) c.2200A>T (p.Met734Leu) c.2206A>T (p.Met736Leu) c.2218A>T (p.Met740Leu) c.2188A>T (p.Met730Leu) | gnomAD v4 |
| 4 | g.159341584T>A | CA358591023 | RAPGEF2 | c.2072T>A (p.Met691Lys) c.2555T>A (p.Met852Lys) c.2537T>A (p.Met846Lys) c.2201T>A (p.Met734Lys) c.2207T>A (p.Met736Lys) c.2219T>A (p.Met740Lys) c.2189T>A (p.Met730Lys) | |
| 4 | g.159341584T>C | CA3124787 | RAPGEF2 | c.2072T>C (p.Met691Thr) c.2555T>C (p.Met852Thr) c.2537T>C (p.Met846Thr) c.2201T>C (p.Met734Thr) c.2207T>C (p.Met736Thr) c.2219T>C (p.Met740Thr) c.2189T>C (p.Met730Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.159341584T>G | CA358591024 | RAPGEF2 | c.2072T>G (p.Met691Arg) c.2555T>G (p.Met852Arg) c.2537T>G (p.Met846Arg) c.2201T>G (p.Met734Arg) c.2207T>G (p.Met736Arg) c.2219T>G (p.Met740Arg) c.2189T>G (p.Met730Arg) | |
| 4 | g.159341584T= | CA1507167696 | RAPGEF2 | c.2072T= (p.Met691=) c.2555T= (p.Met852=) c.2537T= (p.Met846=) c.2201T= (p.Met734=) c.2207T= (p.Met736=) c.2219T= (p.Met740=) c.2189T= (p.Met730=) | |
| 4 | g.159341585G>A | CA3124788 | RAPGEF2 | c.2073G>A (p.Met691Ile) c.2556G>A (p.Met852Ile) c.2538G>A (p.Met846Ile) c.2202G>A (p.Met734Ile) c.2208G>A (p.Met736Ile) c.2220G>A (p.Met740Ile) c.2190G>A (p.Met730Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.159341585G>C | CA358591025 | RAPGEF2 | c.2073G>C (p.Met691Ile) c.2556G>C (p.Met852Ile) c.2538G>C (p.Met846Ile) c.2202G>C (p.Met734Ile) c.2208G>C (p.Met736Ile) c.2220G>C (p.Met740Ile) c.2190G>C (p.Met730Ile) | |
| 4 | g.159341585G= | CA1507167697 | RAPGEF2 | c.2073G= (p.Met691=) c.2556G= (p.Met852=) c.2538G= (p.Met846=) c.2202G= (p.Met734=) c.2208G= (p.Met736=) c.2220G= (p.Met740=) c.2190G= (p.Met730=) | |
| 4 | g.159341585G>T | CA358591026 | RAPGEF2 | c.2073G>T (p.Met691Ile) c.2556G>T (p.Met852Ile) c.2538G>T (p.Met846Ile) c.2202G>T (p.Met734Ile) c.2208G>T (p.Met736Ile) c.2220G>T (p.Met740Ile) c.2190G>T (p.Met730Ile) | |
| 4 | g.159341586G>A | CA358591027 | RAPGEF2 | c.2074G>A (p.Glu692Lys) c.2557G>A (p.Glu853Lys) c.2539G>A (p.Glu847Lys) c.2203G>A (p.Glu735Lys) c.2209G>A (p.Glu737Lys) c.2221G>A (p.Glu741Lys) c.2191G>A (p.Glu731Lys) | gnomAD v4 |
| 4 | g.159341586G>C | CA358591028 | RAPGEF2 | c.2074G>C (p.Glu692Gln) c.2557G>C (p.Glu853Gln) c.2539G>C (p.Glu847Gln) c.2203G>C (p.Glu735Gln) c.2209G>C (p.Glu737Gln) c.2221G>C (p.Glu741Gln) c.2191G>C (p.Glu731Gln) | |
| 4 | g.159341586G>T | CA358591029 | RAPGEF2 | c.2074G>T (p.Glu692Ter) c.2557G>T (p.Glu853Ter) c.2539G>T (p.Glu847Ter) c.2203G>T (p.Glu735Ter) c.2209G>T (p.Glu737Ter) c.2221G>T (p.Glu741Ter) c.2191G>T (p.Glu731Ter) | |
| 4 | g.159341587A>C | CA358591030 | RAPGEF2 | c.2075A>C (p.Glu692Ala) c.2558A>C (p.Glu853Ala) c.2540A>C (p.Glu847Ala) c.2204A>C (p.Glu735Ala) c.2210A>C (p.Glu737Ala) c.2222A>C (p.Glu741Ala) c.2192A>C (p.Glu731Ala) | |
| 4 | g.159341587A>G | CA358591031 | RAPGEF2 | c.2075A>G (p.Glu692Gly) c.2558A>G (p.Glu853Gly) c.2540A>G (p.Glu847Gly) c.2204A>G (p.Glu735Gly) c.2210A>G (p.Glu737Gly) c.2222A>G (p.Glu741Gly) c.2192A>G (p.Glu731Gly) | gnomAD v4 |
| 4 | g.159341587A>T | CA358591032 | RAPGEF2 | c.2075A>T (p.Glu692Val) c.2558A>T (p.Glu853Val) c.2540A>T (p.Glu847Val) c.2204A>T (p.Glu735Val) c.2210A>T (p.Glu737Val) c.2222A>T (p.Glu741Val) c.2192A>T (p.Glu731Val) | |
| 4 | g.159341588A= | CA1507167698 | RAPGEF2 | c.2076A= (p.Glu692=) c.2559A= (p.Glu853=) c.2541A= (p.Glu847=) c.2205A= (p.Glu735=) c.2211A= (p.Glu737=) c.2223A= (p.Glu741=) c.2193A= (p.Glu731=) | |
| 4 | g.159341588A>C | CA358591033 | RAPGEF2 | c.2076A>C (p.Glu692Asp) c.2559A>C (p.Glu853Asp) c.2541A>C (p.Glu847Asp) c.2205A>C (p.Glu735Asp) c.2211A>C (p.Glu737Asp) c.2223A>C (p.Glu741Asp) c.2193A>C (p.Glu731Asp) | |
| 4 | g.159341588A>G | CA442144663 | RAPGEF2 | c.2076A>G (p.Glu692=) c.2559A>G (p.Glu853=) c.2541A>G (p.Glu847=) c.2205A>G (p.Glu735=) c.2211A>G (p.Glu737=) c.2223A>G (p.Glu741=) c.2193A>G (p.Glu731=) | dbSNP gnomAD v4 |
| 4 | g.159341588A>T | CA358591034 | RAPGEF2 | c.2076A>T (p.Glu692Asp) c.2559A>T (p.Glu853Asp) c.2541A>T (p.Glu847Asp) c.2205A>T (p.Glu735Asp) c.2211A>T (p.Glu737Asp) c.2223A>T (p.Glu741Asp) c.2193A>T (p.Glu731Asp) | |
| 4 | g.159341589A>C | CA358591037 | RAPGEF2 | c.2077A>C (p.Thr693Pro) c.2560A>C (p.Thr854Pro) c.2542A>C (p.Thr848Pro) c.2206A>C (p.Thr736Pro) c.2212A>C (p.Thr738Pro) c.2224A>C (p.Thr742Pro) c.2194A>C (p.Thr732Pro) | |
| 4 | g.159341589A>G | CA358591035 | RAPGEF2 | c.2077A>G (p.Thr693Ala) c.2560A>G (p.Thr854Ala) c.2542A>G (p.Thr848Ala) c.2206A>G (p.Thr736Ala) c.2212A>G (p.Thr738Ala) c.2224A>G (p.Thr742Ala) c.2194A>G (p.Thr732Ala) | |
| 4 | g.159341589A>T | CA358591036 | RAPGEF2 | c.2077A>T (p.Thr693Ser) c.2560A>T (p.Thr854Ser) c.2542A>T (p.Thr848Ser) c.2206A>T (p.Thr736Ser) c.2212A>T (p.Thr738Ser) c.2224A>T (p.Thr742Ser) c.2194A>T (p.Thr732Ser) | |
| 4 | g.159341590C>A | CA358591038 | RAPGEF2 | c.2078C>A (p.Thr693Lys) c.2561C>A (p.Thr854Lys) c.2543C>A (p.Thr848Lys) c.2207C>A (p.Thr736Lys) c.2213C>A (p.Thr738Lys) c.2225C>A (p.Thr742Lys) c.2195C>A (p.Thr732Lys) | |
| 4 | g.159341590C>G | CA358591039 | RAPGEF2 | c.2078C>G (p.Thr693Arg) c.2561C>G (p.Thr854Arg) c.2543C>G (p.Thr848Arg) c.2207C>G (p.Thr736Arg) c.2213C>G (p.Thr738Arg) c.2225C>G (p.Thr742Arg) c.2195C>G (p.Thr732Arg) | |
| 4 | g.159341590C>T | CA358591040 | RAPGEF2 | c.2078C>T (p.Thr693Ile) c.2561C>T (p.Thr854Ile) c.2543C>T (p.Thr848Ile) c.2207C>T (p.Thr736Ile) c.2213C>T (p.Thr738Ile) c.2225C>T (p.Thr742Ile) c.2195C>T (p.Thr732Ile) | |
| 4 | g.159341591A>C | CA442144666 | RAPGEF2 | c.2079A>C (p.Thr693=) c.2562A>C (p.Thr854=) c.2544A>C (p.Thr848=) c.2208A>C (p.Thr736=) c.2214A>C (p.Thr738=) c.2226A>C (p.Thr742=) c.2196A>C (p.Thr732=) | |
| 4 | g.159341591A>G | CA442144664 | RAPGEF2 | c.2079A>G (p.Thr693=) c.2562A>G (p.Thr854=) c.2544A>G (p.Thr848=) c.2208A>G (p.Thr736=) c.2214A>G (p.Thr738=) c.2226A>G (p.Thr742=) c.2196A>G (p.Thr732=) | |
| 4 | g.159341591A>T | CA442144665 | RAPGEF2 | c.2079A>T (p.Thr693=) c.2562A>T (p.Thr854=) c.2544A>T (p.Thr848=) c.2208A>T (p.Thr736=) c.2214A>T (p.Thr738=) c.2226A>T (p.Thr742=) c.2196A>T (p.Thr732=) | |
| 4 | g.159341592_159341593del | CA2672534869 | RAPGEF2 | c.2080_2081del (p.Glu694AsnfsTer6) c.2563_2564del (p.Glu855AsnfsTer6) c.2545_2546del (p.Glu849AsnfsTer6) c.2209_2210del (p.Glu737AsnfsTer6) c.2215_2216del (p.Glu739AsnfsTer6) c.2227_2228del (p.Glu743AsnfsTer6) c.2197_2198del (p.Glu733AsnfsTer6) | gnomAD v4 |
| 4 | g.159341592G>A | CA358591041 | RAPGEF2 | c.2080G>A (p.Glu694Lys) c.2563G>A (p.Glu855Lys) c.2545G>A (p.Glu849Lys) c.2209G>A (p.Glu737Lys) c.2215G>A (p.Glu739Lys) c.2227G>A (p.Glu743Lys) c.2197G>A (p.Glu733Lys) | |
| 4 | g.159341592G>C | CA358591042 | RAPGEF2 | c.2080G>C (p.Glu694Gln) c.2563G>C (p.Glu855Gln) c.2545G>C (p.Glu849Gln) c.2209G>C (p.Glu737Gln) c.2215G>C (p.Glu739Gln) c.2227G>C (p.Glu743Gln) c.2197G>C (p.Glu733Gln) | |
| 4 | g.159341592G>T | CA358591043 | RAPGEF2 | c.2080G>T (p.Glu694Ter) c.2563G>T (p.Glu855Ter) c.2545G>T (p.Glu849Ter) c.2209G>T (p.Glu737Ter) c.2215G>T (p.Glu739Ter) c.2227G>T (p.Glu743Ter) c.2197G>T (p.Glu733Ter) | |
| 4 | g.159341593A>C | CA358591044 | RAPGEF2 | c.2081A>C (p.Glu694Ala) c.2564A>C (p.Glu855Ala) c.2546A>C (p.Glu849Ala) c.2210A>C (p.Glu737Ala) c.2216A>C (p.Glu739Ala) c.2228A>C (p.Glu743Ala) c.2198A>C (p.Glu733Ala) | |
| 4 | g.159341593A>G | CA358591045 | RAPGEF2 | c.2081A>G (p.Glu694Gly) c.2564A>G (p.Glu855Gly) c.2546A>G (p.Glu849Gly) c.2210A>G (p.Glu737Gly) c.2216A>G (p.Glu739Gly) c.2228A>G (p.Glu743Gly) c.2198A>G (p.Glu733Gly) | |
| 4 | g.159341593A>T | CA358591046 | RAPGEF2 | c.2081A>T (p.Glu694Val) c.2564A>T (p.Glu855Val) c.2546A>T (p.Glu849Val) c.2210A>T (p.Glu737Val) c.2216A>T (p.Glu739Val) c.2228A>T (p.Glu743Val) c.2198A>T (p.Glu733Val) | |
| 4 | g.159341594A= | CA1507167699 | RAPGEF2 | c.2082A= (p.Glu694=) c.2565A= (p.Glu855=) c.2547A= (p.Glu849=) c.2211A= (p.Glu737=) c.2217A= (p.Glu739=) c.2229A= (p.Glu743=) c.2199A= (p.Glu733=) | |
| 4 | g.159341594A>C | CA358591047 | RAPGEF2 | c.2082A>C (p.Glu694Asp) c.2565A>C (p.Glu855Asp) c.2547A>C (p.Glu849Asp) c.2211A>C (p.Glu737Asp) c.2217A>C (p.Glu739Asp) c.2229A>C (p.Glu743Asp) c.2199A>C (p.Glu733Asp) | |
| 4 | g.159341594A>G | CA442144667 | RAPGEF2 | c.2082A>G (p.Glu694=) c.2565A>G (p.Glu855=) c.2547A>G (p.Glu849=) c.2211A>G (p.Glu737=) c.2217A>G (p.Glu739=) c.2229A>G (p.Glu743=) c.2199A>G (p.Glu733=) | |
| 4 | g.159341594A>T | CA358591048 | RAPGEF2 | c.2082A>T (p.Glu694Asp) c.2565A>T (p.Glu855Asp) c.2547A>T (p.Glu849Asp) c.2211A>T (p.Glu737Asp) c.2217A>T (p.Glu739Asp) c.2229A>T (p.Glu743Asp) c.2199A>T (p.Glu733Asp) | dbSNP |
| 4 | g.159341595A>C | CA358591050 | RAPGEF2 | c.2083A>C (p.Thr695Pro) c.2566A>C (p.Thr856Pro) c.2548A>C (p.Thr850Pro) c.2212A>C (p.Thr738Pro) c.2218A>C (p.Thr740Pro) c.2230A>C (p.Thr744Pro) c.2200A>C (p.Thr734Pro) | |
| 4 | g.159341595A>G | CA358591051 | RAPGEF2 | c.2083A>G (p.Thr695Ala) c.2566A>G (p.Thr856Ala) c.2548A>G (p.Thr850Ala) c.2212A>G (p.Thr738Ala) c.2218A>G (p.Thr740Ala) c.2230A>G (p.Thr744Ala) c.2200A>G (p.Thr734Ala) | |
| 4 | g.159341595A>T | CA358591049 | RAPGEF2 | c.2083A>T (p.Thr695Ser) c.2566A>T (p.Thr856Ser) c.2548A>T (p.Thr850Ser) c.2212A>T (p.Thr738Ser) c.2218A>T (p.Thr740Ser) c.2230A>T (p.Thr744Ser) c.2200A>T (p.Thr734Ser) | |
| 4 | g.159341596C>A | CA358591052 | RAPGEF2 | c.2084C>A (p.Thr695Asn) c.2567C>A (p.Thr856Asn) c.2549C>A (p.Thr850Asn) c.2213C>A (p.Thr738Asn) c.2219C>A (p.Thr740Asn) c.2231C>A (p.Thr744Asn) c.2201C>A (p.Thr734Asn) | |
| 4 | g.159341596C>G | CA358591053 | RAPGEF2 | c.2084C>G (p.Thr695Ser) c.2567C>G (p.Thr856Ser) c.2549C>G (p.Thr850Ser) c.2213C>G (p.Thr738Ser) c.2219C>G (p.Thr740Ser) c.2231C>G (p.Thr744Ser) c.2201C>G (p.Thr734Ser) | |
| 4 | g.159341596C>T | CA358591054 | RAPGEF2 | c.2084C>T (p.Thr695Ile) c.2567C>T (p.Thr856Ile) c.2549C>T (p.Thr850Ile) c.2213C>T (p.Thr738Ile) c.2219C>T (p.Thr740Ile) c.2231C>T (p.Thr744Ile) c.2201C>T (p.Thr734Ile) | |
| 4 | g.159341597T>A | CA442144668 | RAPGEF2 | c.2085T>A (p.Thr695=) c.2568T>A (p.Thr856=) c.2550T>A (p.Thr850=) c.2214T>A (p.Thr738=) c.2220T>A (p.Thr740=) c.2232T>A (p.Thr744=) c.2202T>A (p.Thr734=) | |
| 4 | g.159341597T>C | CA442144669 | RAPGEF2 | c.2085T>C (p.Thr695=) c.2568T>C (p.Thr856=) c.2550T>C (p.Thr850=) c.2214T>C (p.Thr738=) c.2220T>C (p.Thr740=) c.2232T>C (p.Thr744=) c.2202T>C (p.Thr734=) | |
| 4 | g.159341597T>G | CA442144670 | RAPGEF2 | c.2085T>G (p.Thr695=) c.2568T>G (p.Thr856=) c.2550T>G (p.Thr850=) c.2214T>G (p.Thr738=) c.2220T>G (p.Thr740=) c.2232T>G (p.Thr744=) c.2202T>G (p.Thr734=) | dbSNP gnomAD v4 |
| 4 | g.159341597T= | CA1507167700 | RAPGEF2 | c.2085T= (p.Thr695=) c.2568T= (p.Thr856=) c.2550T= (p.Thr850=) c.2214T= (p.Thr738=) c.2220T= (p.Thr740=) c.2232T= (p.Thr744=) c.2202T= (p.Thr734=) | |
| 4 | g.159341598C>A | CA358591055 | RAPGEF2 | c.2086C>A (p.Leu696Ile) c.2569C>A (p.Leu857Ile) c.2551C>A (p.Leu851Ile) c.2215C>A (p.Leu739Ile) c.2221C>A (p.Leu741Ile) c.2233C>A (p.Leu745Ile) c.2203C>A (p.Leu735Ile) | |
| 4 | g.159341598C>G | CA358591056 | RAPGEF2 | c.2086C>G (p.Leu696Val) c.2569C>G (p.Leu857Val) c.2551C>G (p.Leu851Val) c.2215C>G (p.Leu739Val) c.2221C>G (p.Leu741Val) c.2233C>G (p.Leu745Val) c.2203C>G (p.Leu735Val) | |
| 4 | g.159341598C>T | CA358591057 | RAPGEF2 | c.2086C>T (p.Leu696Phe) c.2569C>T (p.Leu857Phe) c.2551C>T (p.Leu851Phe) c.2215C>T (p.Leu739Phe) c.2221C>T (p.Leu741Phe) c.2233C>T (p.Leu745Phe) c.2203C>T (p.Leu735Phe) | |
| 4 | g.159341599T>A | CA358591058 | RAPGEF2 | c.2087T>A (p.Leu696His) c.2570T>A (p.Leu857His) c.2552T>A (p.Leu851His) c.2216T>A (p.Leu739His) c.2222T>A (p.Leu741His) c.2234T>A (p.Leu745His) c.2204T>A (p.Leu735His) | |
| 4 | g.159341599T>C | CA358591059 | RAPGEF2 | c.2087T>C (p.Leu696Pro) c.2570T>C (p.Leu857Pro) c.2552T>C (p.Leu851Pro) c.2216T>C (p.Leu739Pro) c.2222T>C (p.Leu741Pro) c.2234T>C (p.Leu745Pro) c.2204T>C (p.Leu735Pro) | |
| 4 | g.159341599T>G | CA358591060 | RAPGEF2 | c.2087T>G (p.Leu696Arg) c.2570T>G (p.Leu857Arg) c.2552T>G (p.Leu851Arg) c.2216T>G (p.Leu739Arg) c.2222T>G (p.Leu741Arg) c.2234T>G (p.Leu745Arg) c.2204T>G (p.Leu735Arg) | |
| 4 | g.159341600T>A | CA442144671 | RAPGEF2 | c.2088T>A (p.Leu696=) c.2571T>A (p.Leu857=) c.2553T>A (p.Leu851=) c.2217T>A (p.Leu739=) c.2223T>A (p.Leu741=) c.2235T>A (p.Leu745=) c.2205T>A (p.Leu735=) | |
| 4 | g.159341600T>C | CA442144672 | RAPGEF2 | c.2088T>C (p.Leu696=) c.2571T>C (p.Leu857=) c.2553T>C (p.Leu851=) c.2217T>C (p.Leu739=) c.2223T>C (p.Leu741=) c.2235T>C (p.Leu745=) c.2205T>C (p.Leu735=) | dbSNP gnomAD v4 |
| 4 | g.159341600T>G | CA442144673 | RAPGEF2 | c.2088T>G (p.Leu696=) c.2571T>G (p.Leu857=) c.2553T>G (p.Leu851=) c.2217T>G (p.Leu739=) c.2223T>G (p.Leu741=) c.2235T>G (p.Leu745=) c.2205T>G (p.Leu735=) | |
| 4 | g.159341600T= | CA1507167701 | RAPGEF2 | c.2088T= (p.Leu696=) c.2571T= (p.Leu857=) c.2553T= (p.Leu851=) c.2217T= (p.Leu739=) c.2223T= (p.Leu741=) c.2235T= (p.Leu745=) c.2205T= (p.Leu735=) | |
| 4 | g.159341601T>A | CA358591061 | RAPGEF2 | c.2089T>A (p.Cys697Ser) c.2572T>A (p.Cys858Ser) c.2554T>A (p.Cys852Ser) c.2218T>A (p.Cys740Ser) c.2224T>A (p.Cys742Ser) c.2236T>A (p.Cys746Ser) c.2206T>A (p.Cys736Ser) | |
| 4 | g.159341601T>C | CA358591062 | RAPGEF2 | c.2089T>C (p.Cys697Arg) c.2572T>C (p.Cys858Arg) c.2554T>C (p.Cys852Arg) c.2218T>C (p.Cys740Arg) c.2224T>C (p.Cys742Arg) c.2236T>C (p.Cys746Arg) c.2206T>C (p.Cys736Arg) | |
| 4 | g.159341601T>G | CA358591063 | RAPGEF2 | c.2089T>G (p.Cys697Gly) c.2572T>G (p.Cys858Gly) c.2554T>G (p.Cys852Gly) c.2218T>G (p.Cys740Gly) c.2224T>G (p.Cys742Gly) c.2236T>G (p.Cys746Gly) c.2206T>G (p.Cys736Gly) | |
| 4 | g.159341602G>A | CA358591065 | RAPGEF2 | c.2090G>A (p.Cys697Tyr) c.2573G>A (p.Cys858Tyr) c.2555G>A (p.Cys852Tyr) c.2219G>A (p.Cys740Tyr) c.2225G>A (p.Cys742Tyr) c.2237G>A (p.Cys746Tyr) c.2207G>A (p.Cys736Tyr) | |
| 4 | g.159341602G>C | CA358591066 | RAPGEF2 | c.2090G>C (p.Cys697Ser) c.2573G>C (p.Cys858Ser) c.2555G>C (p.Cys852Ser) c.2219G>C (p.Cys740Ser) c.2225G>C (p.Cys742Ser) c.2237G>C (p.Cys746Ser) c.2207G>C (p.Cys736Ser) | |
| 4 | g.159341602G>T | CA358591064 | RAPGEF2 | c.2090G>T (p.Cys697Phe) c.2573G>T (p.Cys858Phe) c.2555G>T (p.Cys852Phe) c.2219G>T (p.Cys740Phe) c.2225G>T (p.Cys742Phe) c.2237G>T (p.Cys746Phe) c.2207G>T (p.Cys736Phe) | |
| 4 | g.159341603T>A | CA358591067 | RAPGEF2 | c.2091T>A (p.Cys697Ter) c.2574T>A (p.Cys858Ter) c.2556T>A (p.Cys852Ter) c.2220T>A (p.Cys740Ter) c.2226T>A (p.Cys742Ter) c.2238T>A (p.Cys746Ter) c.2208T>A (p.Cys736Ter) | |
| 4 | g.159341603T>C | CA442144674 | RAPGEF2 | c.2091T>C (p.Cys697=) c.2574T>C (p.Cys858=) c.2556T>C (p.Cys852=) c.2220T>C (p.Cys740=) c.2226T>C (p.Cys742=) c.2238T>C (p.Cys746=) c.2208T>C (p.Cys736=) | |
| 4 | g.159341603T>G | CA358591068 | RAPGEF2 | c.2091T>G (p.Cys697Trp) c.2574T>G (p.Cys858Trp) c.2556T>G (p.Cys852Trp) c.2220T>G (p.Cys740Trp) c.2226T>G (p.Cys742Trp) c.2238T>G (p.Cys746Trp) c.2208T>G (p.Cys736Trp) | |
| 4 | g.159341604T>A | CA358591069 | RAPGEF2 | c.2092T>A (p.Ser698Thr) c.2575T>A (p.Ser859Thr) c.2557T>A (p.Ser853Thr) c.2221T>A (p.Ser741Thr) c.2227T>A (p.Ser743Thr) c.2239T>A (p.Ser747Thr) c.2209T>A (p.Ser737Thr) | |
| 4 | g.159341604T>C | CA358591070 | RAPGEF2 | c.2092T>C (p.Ser698Pro) c.2575T>C (p.Ser859Pro) c.2557T>C (p.Ser853Pro) c.2221T>C (p.Ser741Pro) c.2227T>C (p.Ser743Pro) c.2239T>C (p.Ser747Pro) c.2209T>C (p.Ser737Pro) | |
| 4 | g.159341604T>G | CA358591071 | RAPGEF2 | c.2092T>G (p.Ser698Ala) c.2575T>G (p.Ser859Ala) c.2557T>G (p.Ser853Ala) c.2221T>G (p.Ser741Ala) c.2227T>G (p.Ser743Ala) c.2239T>G (p.Ser747Ala) c.2209T>G (p.Ser737Ala) | |
| 4 | g.159341605C>A | CA358591073 | RAPGEF2 | c.2093C>A (p.Ser698Ter) c.2576C>A (p.Ser859Ter) c.2558C>A (p.Ser853Ter) c.2222C>A (p.Ser741Ter) c.2228C>A (p.Ser743Ter) c.2240C>A (p.Ser747Ter) c.2210C>A (p.Ser737Ter) | |
| 4 | g.159341605C= | CA1507167702 | RAPGEF2 | c.2093C= (p.Ser698=) c.2576C= (p.Ser859=) c.2558C= (p.Ser853=) c.2222C= (p.Ser741=) c.2228C= (p.Ser743=) c.2240C= (p.Ser747=) c.2210C= (p.Ser737=) | |
| 4 | g.159341605C>G | CA108901819 | RAPGEF2 | c.2093C>G (p.Ser698Ter) c.2576C>G (p.Ser859Ter) c.2558C>G (p.Ser853Ter) c.2222C>G (p.Ser741Ter) c.2228C>G (p.Ser743Ter) c.2240C>G (p.Ser747Ter) c.2210C>G (p.Ser737Ter) | dbSNP |
| 4 | g.159341605C>T | CA358591072 | RAPGEF2 | c.2093C>T (p.Ser698Leu) c.2576C>T (p.Ser859Leu) c.2558C>T (p.Ser853Leu) c.2222C>T (p.Ser741Leu) c.2228C>T (p.Ser743Leu) c.2240C>T (p.Ser747Leu) c.2210C>T (p.Ser737Leu) | |
| 4 | g.159341606A>C | CA442144675 | RAPGEF2 | c.2094A>C (p.Ser698=) c.2577A>C (p.Ser859=) c.2559A>C (p.Ser853=) c.2223A>C (p.Ser741=) c.2229A>C (p.Ser743=) c.2241A>C (p.Ser747=) c.2211A>C (p.Ser737=) | |
| 4 | g.159341606A>G | CA442144676 | RAPGEF2 | c.2094A>G (p.Ser698=) c.2577A>G (p.Ser859=) c.2559A>G (p.Ser853=) c.2223A>G (p.Ser741=) c.2229A>G (p.Ser743=) c.2241A>G (p.Ser747=) c.2211A>G (p.Ser737=) | |
| 4 | g.159341606A>T | CA442144677 | RAPGEF2 | c.2094A>T (p.Ser698=) c.2577A>T (p.Ser859=) c.2559A>T (p.Ser853=) c.2223A>T (p.Ser741=) c.2229A>T (p.Ser743=) c.2241A>T (p.Ser747=) c.2211A>T (p.Ser737=) | |
| 4 | g.159341607G>A | CA358591074 | RAPGEF2 | c.2095G>A (p.Asp699Asn) c.2578G>A (p.Asp860Asn) c.2560G>A (p.Asp854Asn) c.2224G>A (p.Asp742Asn) c.2230G>A (p.Asp744Asn) c.2242G>A (p.Asp748Asn) c.2212G>A (p.Asp738Asn) | |
| 4 | g.159341607G>C | CA358591075 | RAPGEF2 | c.2095G>C (p.Asp699His) c.2578G>C (p.Asp860His) c.2560G>C (p.Asp854His) c.2224G>C (p.Asp742His) c.2230G>C (p.Asp744His) c.2242G>C (p.Asp748His) c.2212G>C (p.Asp738His) | |
| 4 | g.159341607G>T | CA358591076 | RAPGEF2 | c.2095G>T (p.Asp699Tyr) c.2578G>T (p.Asp860Tyr) c.2560G>T (p.Asp854Tyr) c.2224G>T (p.Asp742Tyr) c.2230G>T (p.Asp744Tyr) c.2242G>T (p.Asp748Tyr) c.2212G>T (p.Asp738Tyr) | |
| 4 | g.159341608A= | CA1507167703 | RAPGEF2 | c.2096A= (p.Asp699=) c.2579A= (p.Asp860=) c.2561A= (p.Asp854=) c.2225A= (p.Asp742=) c.2231A= (p.Asp744=) c.2243A= (p.Asp748=) c.2213A= (p.Asp738=) | |
| 4 | g.159341608A>C | CA358591077 | RAPGEF2 | c.2096A>C (p.Asp699Ala) c.2579A>C (p.Asp860Ala) c.2561A>C (p.Asp854Ala) c.2225A>C (p.Asp742Ala) c.2231A>C (p.Asp744Ala) c.2243A>C (p.Asp748Ala) c.2213A>C (p.Asp738Ala) | |
| 4 | g.159341608A>G | CA358591078 | RAPGEF2 | c.2096A>G (p.Asp699Gly) c.2579A>G (p.Asp860Gly) c.2561A>G (p.Asp854Gly) c.2225A>G (p.Asp742Gly) c.2231A>G (p.Asp744Gly) c.2243A>G (p.Asp748Gly) c.2213A>G (p.Asp738Gly) | |
| 4 | g.159341608A>T | CA358591079 | RAPGEF2 | c.2096A>T (p.Asp699Val) c.2579A>T (p.Asp860Val) c.2561A>T (p.Asp854Val) c.2225A>T (p.Asp742Val) c.2231A>T (p.Asp744Val) c.2243A>T (p.Asp748Val) c.2213A>T (p.Asp738Val) | dbSNP |
| 4 | g.159341609T>A | CA358591080 | RAPGEF2 | c.2097T>A (p.Asp699Glu) c.2580T>A (p.Asp860Glu) c.2562T>A (p.Asp854Glu) c.2226T>A (p.Asp742Glu) c.2232T>A (p.Asp744Glu) c.2244T>A (p.Asp748Glu) c.2214T>A (p.Asp738Glu) | |
| 4 | g.159341609T>C | CA442144678 | RAPGEF2 | c.2097T>C (p.Asp699=) c.2580T>C (p.Asp860=) c.2562T>C (p.Asp854=) c.2226T>C (p.Asp742=) c.2232T>C (p.Asp744=) c.2244T>C (p.Asp748=) c.2214T>C (p.Asp738=) | |
| 4 | g.159341609T>G | CA358591081 | RAPGEF2 | c.2097T>G (p.Asp699Glu) c.2580T>G (p.Asp860Glu) c.2562T>G (p.Asp854Glu) c.2226T>G (p.Asp742Glu) c.2232T>G (p.Asp744Glu) c.2244T>G (p.Asp748Glu) c.2214T>G (p.Asp738Glu) | |
| 4 | g.159341610G>A | CA358591082 | RAPGEF2 | c.2098G>A (p.Glu700Lys) c.2581G>A (p.Glu861Lys) c.2563G>A (p.Glu855Lys) c.2227G>A (p.Glu743Lys) c.2233G>A (p.Glu745Lys) c.2245G>A (p.Glu749Lys) c.2215G>A (p.Glu739Lys) | COSMIC |
| 4 | g.159341610G>C | CA358591083 | RAPGEF2 | c.2098G>C (p.Glu700Gln) c.2581G>C (p.Glu861Gln) c.2563G>C (p.Glu855Gln) c.2227G>C (p.Glu743Gln) c.2233G>C (p.Glu745Gln) c.2245G>C (p.Glu749Gln) c.2215G>C (p.Glu739Gln) | |
| 4 | g.159341610G>T | CA358591084 | RAPGEF2 | c.2098G>T (p.Glu700Ter) c.2581G>T (p.Glu861Ter) c.2563G>T (p.Glu855Ter) c.2227G>T (p.Glu743Ter) c.2233G>T (p.Glu745Ter) c.2245G>T (p.Glu749Ter) c.2215G>T (p.Glu739Ter) | |
| 4 | g.159341611A>C | CA358591085 | RAPGEF2 | c.2099A>C (p.Glu700Ala) c.2582A>C (p.Glu861Ala) c.2564A>C (p.Glu855Ala) c.2228A>C (p.Glu743Ala) c.2234A>C (p.Glu745Ala) c.2246A>C (p.Glu749Ala) c.2216A>C (p.Glu739Ala) | |
| 4 | g.159341611A>G | CA358591086 | RAPGEF2 | c.2099A>G (p.Glu700Gly) c.2582A>G (p.Glu861Gly) c.2564A>G (p.Glu855Gly) c.2228A>G (p.Glu743Gly) c.2234A>G (p.Glu745Gly) c.2246A>G (p.Glu749Gly) c.2216A>G (p.Glu739Gly) | |
| 4 | g.159341611A>T | CA358591087 | RAPGEF2 | c.2099A>T (p.Glu700Val) c.2582A>T (p.Glu861Val) c.2564A>T (p.Glu855Val) c.2228A>T (p.Glu743Val) c.2234A>T (p.Glu745Val) c.2246A>T (p.Glu749Val) c.2216A>T (p.Glu739Val) | |
| 4 | g.159341612A>C | CA358591088 | RAPGEF2 | c.2100A>C (p.Glu700Asp) c.2583A>C (p.Glu861Asp) c.2565A>C (p.Glu855Asp) c.2229A>C (p.Glu743Asp) c.2235A>C (p.Glu745Asp) c.2247A>C (p.Glu749Asp) c.2217A>C (p.Glu739Asp) | |
| 4 | g.159341612A>G | CA442144679 | RAPGEF2 | c.2100A>G (p.Glu700=) c.2583A>G (p.Glu861=) c.2565A>G (p.Glu855=) c.2229A>G (p.Glu743=) c.2235A>G (p.Glu745=) c.2247A>G (p.Glu749=) c.2217A>G (p.Glu739=) | |
| 4 | g.159341612A>T | CA358591089 | RAPGEF2 | c.2100A>T (p.Glu700Asp) c.2583A>T (p.Glu861Asp) c.2565A>T (p.Glu855Asp) c.2229A>T (p.Glu743Asp) c.2235A>T (p.Glu745Asp) c.2247A>T (p.Glu749Asp) c.2217A>T (p.Glu739Asp) | |
| 4 | g.159341613G>A | CA358591090 | RAPGEF2 | c.2101G>A (p.Asp701Asn) c.2584G>A (p.Asp862Asn) c.2566G>A (p.Asp856Asn) c.2230G>A (p.Asp744Asn) c.2236G>A (p.Asp746Asn) c.2248G>A (p.Asp750Asn) c.2218G>A (p.Asp740Asn) | |
| 4 | g.159341613G>C | CA358591091 | RAPGEF2 | c.2101G>C (p.Asp701His) c.2584G>C (p.Asp862His) c.2566G>C (p.Asp856His) c.2230G>C (p.Asp744His) c.2236G>C (p.Asp746His) c.2248G>C (p.Asp750His) c.2218G>C (p.Asp740His) | |
| 4 | g.159341613G>T | CA358591092 | RAPGEF2 | c.2101G>T (p.Asp701Tyr) c.2584G>T (p.Asp862Tyr) c.2566G>T (p.Asp856Tyr) c.2230G>T (p.Asp744Tyr) c.2236G>T (p.Asp746Tyr) c.2248G>T (p.Asp750Tyr) c.2218G>T (p.Asp740Tyr) | |
| 4 | g.159341614A>C | CA358591093 | RAPGEF2 | c.2102A>C (p.Asp701Ala) c.2585A>C (p.Asp862Ala) c.2567A>C (p.Asp856Ala) c.2231A>C (p.Asp744Ala) c.2237A>C (p.Asp746Ala) c.2249A>C (p.Asp750Ala) c.2219A>C (p.Asp740Ala) | |
| 4 | g.159341614A>G | CA358591094 | RAPGEF2 | c.2102A>G (p.Asp701Gly) c.2585A>G (p.Asp862Gly) c.2567A>G (p.Asp856Gly) c.2231A>G (p.Asp744Gly) c.2237A>G (p.Asp746Gly) c.2249A>G (p.Asp750Gly) c.2219A>G (p.Asp740Gly) | |
| 4 | g.159341614A>T | CA358591095 | RAPGEF2 | c.2102A>T (p.Asp701Val) c.2585A>T (p.Asp862Val) c.2567A>T (p.Asp856Val) c.2231A>T (p.Asp744Val) c.2237A>T (p.Asp746Val) c.2249A>T (p.Asp750Val) c.2219A>T (p.Asp740Val) | |
| 4 | g.159341615T>A | CA358591097 | RAPGEF2 | c.2103T>A (p.Asp701Glu) c.2586T>A (p.Asp862Glu) c.2568T>A (p.Asp856Glu) c.2232T>A (p.Asp744Glu) c.2238T>A (p.Asp746Glu) c.2250T>A (p.Asp750Glu) c.2220T>A (p.Asp740Glu) | |
| 4 | g.159341615T>C | CA442144680 | RAPGEF2 | c.2103T>C (p.Asp701=) c.2586T>C (p.Asp862=) c.2568T>C (p.Asp856=) c.2232T>C (p.Asp744=) c.2238T>C (p.Asp746=) c.2250T>C (p.Asp750=) c.2220T>C (p.Asp740=) | dbSNP |
| 4 | g.159341615T>G | CA358591096 | RAPGEF2 | c.2103T>G (p.Asp701Glu) c.2586T>G (p.Asp862Glu) c.2568T>G (p.Asp856Glu) c.2232T>G (p.Asp744Glu) c.2238T>G (p.Asp746Glu) c.2250T>G (p.Asp750Glu) c.2220T>G (p.Asp740Glu) | |
| 4 | g.159341615T= | CA1507167704 | RAPGEF2 | c.2103T= (p.Asp701=) c.2586T= (p.Asp862=) c.2568T= (p.Asp856=) c.2232T= (p.Asp744=) c.2238T= (p.Asp746=) c.2250T= (p.Asp750=) c.2220T= (p.Asp740=) | |
| 4 | g.159341616G>A | CA358591098 | RAPGEF2 | c.2104G>A (p.Ala702Thr) c.2587G>A (p.Ala863Thr) c.2569G>A (p.Ala857Thr) c.2233G>A (p.Ala745Thr) c.2239G>A (p.Ala747Thr) c.2251G>A (p.Ala751Thr) c.2221G>A (p.Ala741Thr) | |
| 4 | g.159341616G>C | CA358591099 | RAPGEF2 | c.2104G>C (p.Ala702Pro) c.2587G>C (p.Ala863Pro) c.2569G>C (p.Ala857Pro) c.2233G>C (p.Ala745Pro) c.2239G>C (p.Ala747Pro) c.2251G>C (p.Ala751Pro) c.2221G>C (p.Ala741Pro) | |
| 4 | g.159341616G= | CA1507167705 | RAPGEF2 | c.2104G= (p.Ala702=) c.2587G= (p.Ala863=) c.2569G= (p.Ala857=) c.2233G= (p.Ala745=) c.2239G= (p.Ala747=) c.2251G= (p.Ala751=) c.2221G= (p.Ala741=) | |
| 4 | g.159341616G>T | CA358591100 | RAPGEF2 | c.2104G>T (p.Ala702Ser) c.2587G>T (p.Ala863Ser) c.2569G>T (p.Ala857Ser) c.2233G>T (p.Ala745Ser) c.2239G>T (p.Ala747Ser) c.2251G>T (p.Ala751Ser) c.2221G>T (p.Ala741Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.159341617C>A | CA3124790 | RAPGEF2 | c.2105C>A (p.Ala702Asp) c.2588C>A (p.Ala863Asp) c.2570C>A (p.Ala857Asp) c.2234C>A (p.Ala745Asp) c.2240C>A (p.Ala747Asp) c.2252C>A (p.Ala751Asp) c.2222C>A (p.Ala741Asp) | dbSNP ExAC |
| 4 | g.159341617C= | CA1507167706 | RAPGEF2 | c.2105C= (p.Ala702=) c.2588C= (p.Ala863=) c.2570C= (p.Ala857=) c.2234C= (p.Ala745=) c.2240C= (p.Ala747=) c.2252C= (p.Ala751=) c.2222C= (p.Ala741=) | |
| 4 | g.159341617C>G | CA3124789 | RAPGEF2 | c.2105C>G (p.Ala702Gly) c.2588C>G (p.Ala863Gly) c.2570C>G (p.Ala857Gly) c.2234C>G (p.Ala745Gly) c.2240C>G (p.Ala747Gly) c.2252C>G (p.Ala751Gly) c.2222C>G (p.Ala741Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.159341617C>T | CA358591101 | RAPGEF2 | c.2105C>T (p.Ala702Val) c.2588C>T (p.Ala863Val) c.2570C>T (p.Ala857Val) c.2234C>T (p.Ala745Val) c.2240C>T (p.Ala747Val) c.2252C>T (p.Ala751Val) c.2222C>T (p.Ala741Val) | |
| 4 | g.159341618T>A | CA442144681 | RAPGEF2 | c.2106T>A (p.Ala702=) c.2589T>A (p.Ala863=) c.2571T>A (p.Ala857=) c.2235T>A (p.Ala745=) c.2241T>A (p.Ala747=) c.2253T>A (p.Ala751=) c.2223T>A (p.Ala741=) | |
| 4 | g.159341618T>C | CA442144682 | RAPGEF2 | c.2106T>C (p.Ala702=) c.2589T>C (p.Ala863=) c.2571T>C (p.Ala857=) c.2235T>C (p.Ala745=) c.2241T>C (p.Ala747=) c.2253T>C (p.Ala751=) c.2223T>C (p.Ala741=) | |
| 4 | g.159341618T>G | CA442144683 | RAPGEF2 | c.2106T>G (p.Ala702=) c.2589T>G (p.Ala863=) c.2571T>G (p.Ala857=) c.2235T>G (p.Ala745=) c.2241T>G (p.Ala747=) c.2253T>G (p.Ala751=) c.2223T>G (p.Ala741=) | |
| 4 | g.159341619C>A | CA358591104 | RAPGEF2 | c.2107C>A (p.Gln703Lys) c.2590C>A (p.Gln864Lys) c.2572C>A (p.Gln858Lys) c.2236C>A (p.Gln746Lys) c.2242C>A (p.Gln748Lys) c.2254C>A (p.Gln752Lys) c.2224C>A (p.Gln742Lys) | gnomAD v4 |
| 4 | g.159341619C>G | CA358591102 | RAPGEF2 | c.2107C>G (p.Gln703Glu) c.2590C>G (p.Gln864Glu) c.2572C>G (p.Gln858Glu) c.2236C>G (p.Gln746Glu) c.2242C>G (p.Gln748Glu) c.2254C>G (p.Gln752Glu) c.2224C>G (p.Gln742Glu) | |
| 4 | g.159341619C>T | CA358591103 | RAPGEF2 | c.2107C>T (p.Gln703Ter) c.2590C>T (p.Gln864Ter) c.2572C>T (p.Gln858Ter) c.2236C>T (p.Gln746Ter) c.2242C>T (p.Gln748Ter) c.2254C>T (p.Gln752Ter) c.2224C>T (p.Gln742Ter) | |
| 4 | g.159341620A= | CA1507167707 | RAPGEF2 | c.2108A= (p.Gln703=) c.2591A= (p.Gln864=) c.2573A= (p.Gln858=) c.2237A= (p.Gln746=) c.2243A= (p.Gln748=) c.2255A= (p.Gln752=) c.2225A= (p.Gln742=) | |
| 4 | g.159341620A>C | CA358591105 | RAPGEF2 | c.2108A>C (p.Gln703Pro) c.2591A>C (p.Gln864Pro) c.2573A>C (p.Gln858Pro) c.2237A>C (p.Gln746Pro) c.2243A>C (p.Gln748Pro) c.2255A>C (p.Gln752Pro) c.2225A>C (p.Gln742Pro) | |
| 4 | g.159341620A>G | CA108901825 | RAPGEF2 | c.2108A>G (p.Gln703Arg) c.2591A>G (p.Gln864Arg) c.2573A>G (p.Gln858Arg) c.2237A>G (p.Gln746Arg) c.2243A>G (p.Gln748Arg) c.2255A>G (p.Gln752Arg) c.2225A>G (p.Gln742Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.159341620A>T | CA358591106 | RAPGEF2 | c.2108A>T (p.Gln703Leu) c.2591A>T (p.Gln864Leu) c.2573A>T (p.Gln858Leu) c.2237A>T (p.Gln746Leu) c.2243A>T (p.Gln748Leu) c.2255A>T (p.Gln752Leu) c.2225A>T (p.Gln742Leu) | |
| 4 | g.159341621G>A | CA442144684 | RAPGEF2 | c.2109G>A (p.Gln703=) c.2592G>A (p.Gln864=) c.2574G>A (p.Gln858=) c.2238G>A (p.Gln746=) c.2244G>A (p.Gln748=) c.2256G>A (p.Gln752=) c.2226G>A (p.Gln742=) | gnomAD v4 |
| 4 | g.159341621G>C | CA358591107 | RAPGEF2 | c.2109G>C (p.Gln703His) c.2592G>C (p.Gln864His) c.2574G>C (p.Gln858His) c.2238G>C (p.Gln746His) c.2244G>C (p.Gln748His) c.2256G>C (p.Gln752His) c.2226G>C (p.Gln742His) | |
| 4 | g.159341621G>T | CA358591108 | RAPGEF2 | c.2109G>T (p.Gln703His) c.2592G>T (p.Gln864His) c.2574G>T (p.Gln858His) c.2238G>T (p.Gln746His) c.2244G>T (p.Gln748His) c.2256G>T (p.Gln752His) c.2226G>T (p.Gln742His) | |
| 4 | g.159341622G>A | CA358591109 | RAPGEF2 | c.2110G>A (p.Glu704Lys) c.2593G>A (p.Glu865Lys) c.2575G>A (p.Glu859Lys) c.2239G>A (p.Glu747Lys) c.2245G>A (p.Glu749Lys) c.2257G>A (p.Glu753Lys) c.2227G>A (p.Glu743Lys) | |
| 4 | g.159341622G>C | CA358591111 | RAPGEF2 | c.2110G>C (p.Glu704Gln) c.2593G>C (p.Glu865Gln) c.2575G>C (p.Glu859Gln) c.2239G>C (p.Glu747Gln) c.2245G>C (p.Glu749Gln) c.2257G>C (p.Glu753Gln) c.2227G>C (p.Glu743Gln) | |
| 4 | g.159341622G>T | CA358591110 | RAPGEF2 | c.2110G>T (p.Glu704Ter) c.2593G>T (p.Glu865Ter) c.2575G>T (p.Glu859Ter) c.2239G>T (p.Glu747Ter) c.2245G>T (p.Glu749Ter) c.2257G>T (p.Glu753Ter) c.2227G>T (p.Glu743Ter) | |
| 4 | g.159341623A>C | CA358591112 | RAPGEF2 | c.2111A>C (p.Glu704Ala) c.2594A>C (p.Glu865Ala) c.2576A>C (p.Glu859Ala) c.2240A>C (p.Glu747Ala) c.2246A>C (p.Glu749Ala) c.2258A>C (p.Glu753Ala) c.2228A>C (p.Glu743Ala) | |
| 4 | g.159341623A>G | CA358591113 | RAPGEF2 | c.2111A>G (p.Glu704Gly) c.2594A>G (p.Glu865Gly) c.2576A>G (p.Glu859Gly) c.2240A>G (p.Glu747Gly) c.2246A>G (p.Glu749Gly) c.2258A>G (p.Glu753Gly) c.2228A>G (p.Glu743Gly) | |
| 4 | g.159341623A>T | CA358591114 | RAPGEF2 | c.2111A>T (p.Glu704Val) c.2594A>T (p.Glu865Val) c.2576A>T (p.Glu859Val) c.2240A>T (p.Glu747Val) c.2246A>T (p.Glu749Val) c.2258A>T (p.Glu753Val) c.2228A>T (p.Glu743Val) | |
| 4 | g.159341624G>A | CA442144685 | RAPGEF2 | c.2112G>A (p.Glu704=) c.2595G>A (p.Glu865=) c.2577G>A (p.Glu859=) c.2241G>A (p.Glu747=) c.2247G>A (p.Glu749=) c.2259G>A (p.Glu753=) c.2229G>A (p.Glu743=) | gnomAD v3 gnomAD v4 |
| 4 | g.159341624G>C | CA358591115 | RAPGEF2 | c.2112G>C (p.Glu704Asp) c.2595G>C (p.Glu865Asp) c.2577G>C (p.Glu859Asp) c.2241G>C (p.Glu747Asp) c.2247G>C (p.Glu749Asp) c.2259G>C (p.Glu753Asp) c.2229G>C (p.Glu743Asp) | |
| 4 | g.159341624G>T | CA358591116 | RAPGEF2 | c.2112G>T (p.Glu704Asp) c.2595G>T (p.Glu865Asp) c.2577G>T (p.Glu859Asp) c.2241G>T (p.Glu747Asp) c.2247G>T (p.Glu749Asp) c.2259G>T (p.Glu753Asp) c.2229G>T (p.Glu743Asp) | |
| 4 | g.159341628_159341630del | CA2672534889 | RAPGEF2 | c.2116_2118del (p.Leu706del) c.2599_2601del (p.Leu867del) c.2581_2583del (p.Leu861del) c.2245_2247del (p.Leu749del) c.2251_2253del (p.Leu751del) c.2263_2265del (p.Leu755del) c.2233_2235del (p.Leu745del) | gnomAD v4 |
| 4 | g.159341625T>A | CA358591117 | RAPGEF2 | c.2113T>A (p.Leu705Met) c.2596T>A (p.Leu866Met) c.2578T>A (p.Leu860Met) c.2242T>A (p.Leu748Met) c.2248T>A (p.Leu750Met) c.2260T>A (p.Leu754Met) c.2230T>A (p.Leu744Met) | |
| 4 | g.159341625T>C | CA442144686 | RAPGEF2 | c.2113T>C (p.Leu705=) c.2596T>C (p.Leu866=) c.2578T>C (p.Leu860=) c.2242T>C (p.Leu748=) c.2248T>C (p.Leu750=) c.2260T>C (p.Leu754=) c.2230T>C (p.Leu744=) | |
| 4 | g.159341625T>G | CA358591118 | RAPGEF2 | c.2113T>G (p.Leu705Val) c.2596T>G (p.Leu866Val) c.2578T>G (p.Leu860Val) c.2242T>G (p.Leu748Val) c.2248T>G (p.Leu750Val) c.2260T>G (p.Leu754Val) c.2230T>G (p.Leu744Val) |